Schistosoma Mansoni is one of the microbial species that causes similar symptoms found with S. mekongi, one of 3 species in Asia that are known to cause infection in humans. The other two are known as S. japonicum and S. Malayensis. Human infection is known as Acute Schistosomiasis, caused by helminth parasites of the genus Schistosoma and is characterized by, most commonly fever and cough, but also by myalgia, gastrointestinal complaints, fatigue and urticaria. The region of Asia where these infections have been reported was Laos, after 7 travelers from Israel had been diagnosed from serology. It has been reported that over 200 million humans are infected, but about 85% of those infected are in Africa. What is interesting to note is that anyone can be at risk who travels to endemic areas such as Laos or Africa and are exposed to fresh water. Freshwater snails are generally the host.
http://www.cdc.gov/eid/content/15/11/1823.htm
http://wwwnc.cdc.gov/travel/yellowbook/2010/chapter-5/schistosomiasis.aspx
Tuesday, May 11, 2010
Clostridium difficile is an acute, severe disease of the colon, developing as a complication of antibiotic therapy. People in good health usually don't get C. difficile disease. Doctors quite often faced with diarrhea in patients after antibiotic use. Only infected people can spread the disease to others. However, only people that are hospitalized or on antibiotics are likely to become ill. Clostridium difficile is the causative agent of the most severe complications, up to the development of fulminant colitis and toxic dilatation of the colon. The key to the pathogenesis S.diffichili associated colitis is a violation of microbial ecology in the colon, the oppression of the resident anaerobic microflora, the occurrence of metabolic niches for reproduction S.difficile and its conversion into toxinoforming form.
Clostridium difficile infections (CDIs) have increased in incidence and severity within the past decade in North America and Europe (1), in large part because of the emergence of the hypervirulent North American pulsed-field type 1 (NAP1/027/III) strains (2-5). Recently, interest has increased in the ribotype 078 strain. An infection was considered healthcare-associated CDI of the patient's symptoms occurring. An infection was considered community-onset CDI if the healthcare-associated definition was not met. Outcomes 30 days postinfection were recorded to capture severe cases, which were defined as infections in patients admitted to an intensive care unit, in patients who had undergone colectomy, or in patients who had died (12). Deaths were assessed by the Canadian Hospital Epidemiology Committee member and categorized into three groups: 1) death directly attributable to CDI, 2) death indirectly related to CDI by exacerbation of an existing disease condition, or 3) death not a result of CDI. The assessment was made from information obtained from medical charts, nurse logs, laboratory reports, and consultation with nursing and medical staff. It is harmful, so it would be great to use safety percussion to reduce the chance of a spread.
“General Information about Clostridium difficile Infections ” August 2004, Jul 22, 2005.
“Hypervirulent Clostridium difficile Strains in Hospitalized Patients, Canada”Dispatch,Vol. 16, #4, April 2010.
Clostridium difficile infections (CDIs) have increased in incidence and severity within the past decade in North America and Europe (1), in large part because of the emergence of the hypervirulent North American pulsed-field type 1 (NAP1/027/III) strains (2-5). Recently, interest has increased in the ribotype 078 strain. An infection was considered healthcare-associated CDI of the patient's symptoms occurring. An infection was considered community-onset CDI if the healthcare-associated definition was not met. Outcomes 30 days postinfection were recorded to capture severe cases, which were defined as infections in patients admitted to an intensive care unit, in patients who had undergone colectomy, or in patients who had died (12). Deaths were assessed by the Canadian Hospital Epidemiology Committee member and categorized into three groups: 1) death directly attributable to CDI, 2) death indirectly related to CDI by exacerbation of an existing disease condition, or 3) death not a result of CDI. The assessment was made from information obtained from medical charts, nurse logs, laboratory reports, and consultation with nursing and medical staff. It is harmful, so it would be great to use safety percussion to reduce the chance of a spread.
“General Information about Clostridium difficile Infections ” August 2004, Jul 22, 2005
“Hypervirulent Clostridium difficile Strains in Hospitalized Patients, Canada”Dispatch,Vol. 16, #4, April 2010
Human Plasmodium Knowlesi Infection Detected by Rapid Diagnostic Tests for Malaria
P. Knowlesi is a Malaria parasite that was regarded as a rare disease, mainly occuring in long-tailed and pig tailed macaques(monkey) but has occured sporadically in humans. There have been a large number of infected patients in Malaysian Borneo and other reports of human cases in Thailand, Myanmar, Philippines and Singapore.
"Human Plasmodium Knowlesi infection detected by rapid diagnostic tests for malaria". Dispatch, volume 15 number 9 September 2009 http://www.cdc.gov/eid/content/15/9/478.htm
P. Knowlesi is transmitted from monkeys to humans by mosquitos. Sx's of malaria include fever and flu like sx's, headach, muscle aches and tiredness, nausea, vomitting and diarrhea. May also cause juandice(yellow coloring of the skin and eyes). If not treated the infection can cause kidney failure, seizures, mental confusion, coma and death.
http://www.cdc.gov/malaria/about/faqs.htm
"Human Plasmodium Knowlesi infection detected by rapid diagnostic tests for malaria". Dispatch, volume 15 number 9 September 2009 http://www.cdc.gov/eid/content/15/9/478.htm
P. Knowlesi is transmitted from monkeys to humans by mosquitos. Sx's of malaria include fever and flu like sx's, headach, muscle aches and tiredness, nausea, vomitting and diarrhea. May also cause juandice(yellow coloring of the skin and eyes). If not treated the infection can cause kidney failure, seizures, mental confusion, coma and death.
http://www.cdc.gov/malaria/about/faqs.htm
Lymphocytic Choriomeningitis Virus Meningitis, New York, NY, USA, 2009
Lymphocytic choriomeningitis virus (LCMV)belongs to the family of the arenaviruses, which are associated with rodent-transmitted disease in humans and are zootonic. Humans can come into contact with arenaviruses by ingesting contaminated food and having direct contact with rodent excrement. Such arenavirus infections can cause severe illnesses and are more common in humans.The rodent hosts of arenaviruses have been known to be chronically infected with viruses, which do not show obvious symptoms inside the hosts. Some arenaviruses are also associated with nosocomial transmission and secondary person to person. Nosocomial transmission occurs when a person is exposed and then infected with the arenavirus from the rodent host. Once the person is infected the virus, he or she can spread it to other humans. However, person to person transmission is associated with having direct contact with one another's blood and other excretions that contain virus particles of infected individuals.
Since LCMV belongs to the family of the arenavirus, it has been discovered in the common house mouse (MUS musculus and M. domesticus), pets, and research rodents, such as hamsters and guinea pigs. LCMV is transmitted through inhalation, fomites, and direct contact with blood from infected rodents. Such a virus has also been transmitted by infected mothers during pregnancy to the fetus and through solid organ transplantation. The incubation period for LCMV is from one to two weeks and infected individual usually experience symptoms, such as fever chills, myalgia, pharyngitis, testicular pain, and photophobia.
In the article, "Lymphorcytic Choriomeningitis Virus Meningitis, New York, NY, USA, 2009," it mentioned about how a forty-nine year old man (taxi driver) received treatment for LCMV. The patient also had all the symptoms for the virus, such as chills, headache, vomiting, generalized weakness, nausea, and a seven day history of fever. The article also stated that he received a corneal transplant the previous year that may have caused LCMV. After the patient received supportive care, he fully recovered and was discharged on day twelve.
Although the patient received a corneal transplant the previous year, it was not actually the source of infection. The Centers for Disease Control and Prevention concluded that the patient experienced meningitis during the fall-winter season. Then,a febrile illness followed by brief remission before an onset of neurological illness, and CSF with a hypoglycorrachia and lymphocytosis. After the case, the Center for Disease Control and Prevention implemented new rules and regulations for diagnosing LCMV. Within the preceding three months, patients with a history of organ transplantation should be evaluated to determine whether infected organs were the primary souce of LCMV. Patients with LCMV should also be questioned about potential rodent exposure. By having a better understanding of the true incidence of LCMV, authorities will be able to prevent and control the virus.
Asnis, Deborah, "Lymphorcytic Choriomeningitis Virus Meningitis" Center for Disease Control and Prevention, February 2010, http://www.cdc.gov/eid/content/16/2/328.htm.
"Arenaviruses," Special Pathogens Branch, August 2005, http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/arena.htm.
Since LCMV belongs to the family of the arenavirus, it has been discovered in the common house mouse (MUS musculus and M. domesticus), pets, and research rodents, such as hamsters and guinea pigs. LCMV is transmitted through inhalation, fomites, and direct contact with blood from infected rodents. Such a virus has also been transmitted by infected mothers during pregnancy to the fetus and through solid organ transplantation. The incubation period for LCMV is from one to two weeks and infected individual usually experience symptoms, such as fever chills, myalgia, pharyngitis, testicular pain, and photophobia.
In the article, "Lymphorcytic Choriomeningitis Virus Meningitis, New York, NY, USA, 2009," it mentioned about how a forty-nine year old man (taxi driver) received treatment for LCMV. The patient also had all the symptoms for the virus, such as chills, headache, vomiting, generalized weakness, nausea, and a seven day history of fever. The article also stated that he received a corneal transplant the previous year that may have caused LCMV. After the patient received supportive care, he fully recovered and was discharged on day twelve.
Although the patient received a corneal transplant the previous year, it was not actually the source of infection. The Centers for Disease Control and Prevention concluded that the patient experienced meningitis during the fall-winter season. Then,a febrile illness followed by brief remission before an onset of neurological illness, and CSF with a hypoglycorrachia and lymphocytosis. After the case, the Center for Disease Control and Prevention implemented new rules and regulations for diagnosing LCMV. Within the preceding three months, patients with a history of organ transplantation should be evaluated to determine whether infected organs were the primary souce of LCMV. Patients with LCMV should also be questioned about potential rodent exposure. By having a better understanding of the true incidence of LCMV, authorities will be able to prevent and control the virus.
Asnis, Deborah, "Lymphorcytic Choriomeningitis Virus Meningitis" Center for Disease Control and Prevention, February 2010, http://www.cdc.gov/eid/content/16/2/328.htm.
"Arenaviruses," Special Pathogens Branch, August 2005, http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/arena.htm.
Q Fever in Greenland
Coxiella burnetii is the microbial agent responsible for causing Q fever in Greenland. This is zoonosis disease. Cattle, goats and sheep are reservoirs for the small bacterium yet many other animals are capable for housing it at well. The latent attribute or c. burnetti causes it so be shed during birth in animals, but in humans the symptoms are asymptomatic or just causing fever like symptoms but do not be fooled, this bacterium can also cause pneumonia or hepatitis.
A native of Greenland went to the hospital in December 2007 after having a fever for two months. As a child he had rheumatic fever and six years prior to this hospital visit, he had biological aortic and mitral valves implanted which put him at risk for Q fever endocarditis. January 2008 he was transferred to a different hospital. But he was enduring a low-grade fever, cardiac insufficiency with peripheral edema, hepatosplenomegaly, and 20% half-moon nephritis. His heart seemed fine though and his blood tests were negative for the bacterium. In may 2008, a surgery found massive endocarditis - and his biological valves were replaced with mechanical valves and his symptoms subsided.
After 30 days of incubation, the mans culture was positive after indirect immunofluorescent assay with C. burnetii phase II–specific antibodies..
Google Heath, "Q Fever"retrieved May 11, 2010 from https://health.google.com/health/ref/Q+fever
Koch A, Svendsen CB, Christensen JJ, Bundgaard H, Vindfeld L, Christiansen CB, et al. Q fever in Greenland. Emerg Infect Dis. 2010 Mar [May 11, 2010]. http://www.cdc.gov/EID/content/16/3/511.htm
A native of Greenland went to the hospital in December 2007 after having a fever for two months. As a child he had rheumatic fever and six years prior to this hospital visit, he had biological aortic and mitral valves implanted which put him at risk for Q fever endocarditis. January 2008 he was transferred to a different hospital. But he was enduring a low-grade fever, cardiac insufficiency with peripheral edema, hepatosplenomegaly, and 20% half-moon nephritis. His heart seemed fine though and his blood tests were negative for the bacterium. In may 2008, a surgery found massive endocarditis - and his biological valves were replaced with mechanical valves and his symptoms subsided.
After 30 days of incubation, the mans culture was positive after indirect immunofluorescent assay with C. burnetii phase II–specific antibodies..
Google Heath, "Q Fever"retrieved May 11, 2010 from https://health.google.com/health/ref/Q+fever
Koch A, Svendsen CB, Christensen JJ, Bundgaard H, Vindfeld L, Christiansen CB, et al. Q fever in Greenland. Emerg Infect Dis. 2010 Mar [May 11, 2010]. http://www.cdc.gov/EID/content/16/3/511.htm
Merkel Cell Polyomavirus in Cutaneous Swabs
Merkel cell polyomavirus (MCPyV) was recently discovered in Merkel cell carcinomas, rare but aggressive skin cancers. Merkel cell polyomavirus DNA has been detected in the majority of merkel cell carcinoma (MCC) and less commonly in other skin tumors and healthy skin. To determine if MCPyV might be a widespread in the general population, a retrospective study and tested MCC as well as healthy and skin lesion and mucosa samples of immuno competent and immunosuppressed persons without MCC for MCPyV DNA are conducted. The majority of patients with Merkel cell carcinoma carry MCPyV, but little is known about polyomavirus prevalence in the general population and the association between circulating antibodies against MCPyV and the rare skin cancer.
MCPyV DNA can be efficiently detected by cutaneous swabbing. This method could be useful tool for future epidemiologic studies targeting MCPyV. Indeed, this noninvasive procedure may be easily performed without the potential risk for side effects related to biopsy collection and is more acceptable than a biopsy for patients who not have a cutaneous disease. The high prevalence of MCPyV DNA at the skin surface, contrasted with its low prevalence in buccal mucosa and its absence in skin ulcers, strongly suggests that MCPyV is localized in the epidermis.
Work cited: Toland AE. Merkel cell polyomavirus in cutaneous squamous immunocompetent individuals. J Invest Dermatol. 2009
Journal of the National Cancer Institute published September 23
MCPyV DNA can be efficiently detected by cutaneous swabbing. This method could be useful tool for future epidemiologic studies targeting MCPyV. Indeed, this noninvasive procedure may be easily performed without the potential risk for side effects related to biopsy collection and is more acceptable than a biopsy for patients who not have a cutaneous disease. The high prevalence of MCPyV DNA at the skin surface, contrasted with its low prevalence in buccal mucosa and its absence in skin ulcers, strongly suggests that MCPyV is localized in the epidermis.
Work cited: Toland AE. Merkel cell polyomavirus in cutaneous squamous immunocompetent individuals. J Invest Dermatol. 2009
Journal of the National Cancer Institute published September 23
Monday, May 10, 2010
Influenza Virus A (H1N1) in Giant Anteaters (Myrmecophaga tridactyla)
Influenza (H1N1) is a subtype of influenza virus which is the most common cause of Human influenza. This virus was originally called swine flu because of the genes that are similar to flu viruses in pigs. Like other flu strains, the H1N1 flu virus is passed from person to person. H1N1 causes flu-like symptoms including, sore throat, fever, fatigue, and body aches.
Influenza is known to cross species line into mammalian species. Influenza virus is a pathogen that not only affects its avian reservoir but also mammalian species such as swine, horses, cats, dogs, and humans. In 2007, researchers documented a respiratory disease occurrence in a group of giant anteaters- the new host- at the Nashville zoo. Isolates from two affected animals were identified as a type A influenza virus related to human influenza subtype H1N1. This host could potentially impact human population as possible sources of zoonotic spread of influenza. Emergence of viruses in new host increases people’s concern. However, the good news is that the H1N1 vaccine has been developed now and is available for everyone. CDC recommends influenza vaccination as the most important step in protection the flu.
Sally Nofs, Mohamed Abd-Eldaim, Kathy V. Thomas, David Toplon, Dawn Rouse, and Melissa Kennedy “ Influenza Virus A (H1N1) in the Giant Anteaters ( Myrmecophaga tridactyla).” Emerging Infectious Disease. Volume 15, Number 7- July 2009
“2009 H1N1 Flu” Centers for Disease Control and Prevention. May 7, 2010
Influenza is known to cross species line into mammalian species. Influenza virus is a pathogen that not only affects its avian reservoir but also mammalian species such as swine, horses, cats, dogs, and humans. In 2007, researchers documented a respiratory disease occurrence in a group of giant anteaters- the new host- at the Nashville zoo. Isolates from two affected animals were identified as a type A influenza virus related to human influenza subtype H1N1. This host could potentially impact human population as possible sources of zoonotic spread of influenza. Emergence of viruses in new host increases people’s concern. However, the good news is that the H1N1 vaccine has been developed now and is available for everyone. CDC recommends influenza vaccination as the most important step in protection the flu.
Sally Nofs, Mohamed Abd-Eldaim, Kathy V. Thomas, David Toplon, Dawn Rouse, and Melissa Kennedy “ Influenza Virus A (H1N1) in the Giant Anteaters ( Myrmecophaga tridactyla).” Emerging Infectious Disease. Volume 15, Number 7- July 2009
“2009 H1N1 Flu” Centers for Disease Control and Prevention. May 7, 2010
Congenital Transmission of Chagas Disease in Latin American Immigrants in Switzerland
Chagas disease, a zoonotic infection caused by Trypanosoma cruzi, is the most important endemic parasitic infection in Mexico and Central and South America because of the number of persons who become ill or die from this disease. An estimated 8-10 million persons are infected, and =14,000 persons die each year from Chagas disease. Historically, transmission by triatomine vectors has been the most common source of infection.
In response to these 2 cases, in 2007, a retrospective serologic survey for T. cruzi infection was performed on stored serum samples from 72 undocumented pregnant Latin American women who had recieved prenatal care at the Geneva University Hospitals during the previous year. Median age was 30 years, and countries of origin were Bolivia, Brazil, Peru, Ecuador, Colombia, Chile, Honduras. Serum samples were tested by IFA using T. cruzi parasites from in vitro culture. Of the 72 samples, 7 (9.7%) were positive.
Only a small number of congenital cases of Chagas disease have been reported in countries in which this infection is nonendemic. Chagas disease affects immigrants, who frequently lack legal status and therefore experience difficulties (e.g., fear of deportation and financial and administrative constraints) in accessing quality healthcare during pregnancy.
Systematic screening of pregnant women at risk is likely to be beneficial in several ways. Treatment of infected mothers after completion of breast-feeding may reduce the risk for vertical transmission during subsequent pregnancies. Treatment of young women at the chronic, indeterminate stage of infection is likely to lower their risk for developing cardiac complications. Early screening and treatment of infected newborns are associated with high cure rates.
Microbial Agent in this article is Trypanosoma Cruzi (or "kissing bug"). An infected triatomine insect vector takes a blood meal and releases trypomastigotes in its feces near the site of the bite wound. Trypomastigotes enter the host through the wound of through intact mucosal membranes, such as the conjunctiva. Trypanosoma cruzi can also be transmitted through blood transfusions, organ transplantation, transplacentally, and in laboratory accidents.
Work Cited:
Jackson Y. Myers C, Diana A, Marti H-P, Wolff H, Chappuis F. "Congenital transmission of Chagas disease in Latin American immigrants in Switzerland." Emerg Infect Dis (serial on the internet). 2009 Apr (date cited).http://www.cdc.gov/EID/content/15/4/601.htm
"Trypanosomiasis, American" Parasites and Health. http://www.dpd.cdc.gov/dpdx/HTML/TrypanosomiasisAmerican.htm
In response to these 2 cases, in 2007, a retrospective serologic survey for T. cruzi infection was performed on stored serum samples from 72 undocumented pregnant Latin American women who had recieved prenatal care at the Geneva University Hospitals during the previous year. Median age was 30 years, and countries of origin were Bolivia, Brazil, Peru, Ecuador, Colombia, Chile, Honduras. Serum samples were tested by IFA using T. cruzi parasites from in vitro culture. Of the 72 samples, 7 (9.7%) were positive.
Only a small number of congenital cases of Chagas disease have been reported in countries in which this infection is nonendemic. Chagas disease affects immigrants, who frequently lack legal status and therefore experience difficulties (e.g., fear of deportation and financial and administrative constraints) in accessing quality healthcare during pregnancy.
Systematic screening of pregnant women at risk is likely to be beneficial in several ways. Treatment of infected mothers after completion of breast-feeding may reduce the risk for vertical transmission during subsequent pregnancies. Treatment of young women at the chronic, indeterminate stage of infection is likely to lower their risk for developing cardiac complications. Early screening and treatment of infected newborns are associated with high cure rates.
Microbial Agent in this article is Trypanosoma Cruzi (or "kissing bug"). An infected triatomine insect vector takes a blood meal and releases trypomastigotes in its feces near the site of the bite wound. Trypomastigotes enter the host through the wound of through intact mucosal membranes, such as the conjunctiva. Trypanosoma cruzi can also be transmitted through blood transfusions, organ transplantation, transplacentally, and in laboratory accidents.
Work Cited:
Jackson Y. Myers C, Diana A, Marti H-P, Wolff H, Chappuis F. "Congenital transmission of Chagas disease in Latin American immigrants in Switzerland." Emerg Infect Dis (serial on the internet). 2009 Apr (date cited).http://www.cdc.gov/EID/content/15/4/601.htm
"Trypanosomiasis, American" Parasites and Health. http://www.dpd.cdc.gov/dpdx/HTML/TrypanosomiasisAmerican.htm
Botulism from Drinking Pruno
According to the article, “Botulism from Drinking Pruno” by Dub Vugia, four inmates from a prison in Riverside California, came down with food borne botulism. After a massive investigation, it was found that the prisoners created a home-made alcoholic beverage called “Pruno.” The prisoners used ingredients such as: unpeeled potatoes, apples, old peach jelly, and ketchup. The combination of these ingredients were mixed in a plastic bag and fermented with different heating stages over several days. The investigation led them to the conclusion that the potatoes used in making pruno were the main contributor to botulism toxin. Clostridium botulism is found in soil and the spores have been found on raw potatoes. From further research, it was found that the spores on the surface of raw potatoes can survive baking and lead to production of C. botulinum toxin. Additionally, the warm fermentation process of making pruno can enhance the production of C. botulinum toxin.
When a person ingests food borne botulism toxin signs will appear within approximately 12-36 hours. The main symptoms of food borne botulism are: double vision, drooping eyelids, difficulty swallowing, dry mouth, distorted voice which causes difficulty in speaking, muscle weakness which may move down the body, typically shoulders first, upper arms, lower arms, thighs, and calves. Additionally, the paralysis can cause breathing problems which can ultimately cause the person to die.
"CDC Botulism | Clinical Description." CDC Emergency Preparedness & Response Site. 14 June 2006. Web. 10 May 2010..
"CDC | Facts About Botulism." CDC Emergency Preparedness & Response Site. 14 Oct. 2001. Web. 10 May 2010..
Vugia, Duc J. "Botulism from Drinking Pruno|CDC EID." Centers for Disease Control and Prevention. 1 Jan. 2009. Web. 10 May 2010..
Dictionary.com|Find the Meanings and Definitions of Words at Dictionary.com. Web. 10 May 2010..
When a person ingests food borne botulism toxin signs will appear within approximately 12-36 hours. The main symptoms of food borne botulism are: double vision, drooping eyelids, difficulty swallowing, dry mouth, distorted voice which causes difficulty in speaking, muscle weakness which may move down the body, typically shoulders first, upper arms, lower arms, thighs, and calves. Additionally, the paralysis can cause breathing problems which can ultimately cause the person to die.
"CDC Botulism | Clinical Description." CDC Emergency Preparedness & Response Site. 14 June 2006. Web. 10 May 2010.
"CDC | Facts About Botulism." CDC Emergency Preparedness & Response Site. 14 Oct. 2001. Web. 10 May 2010.
Vugia, Duc J. "Botulism from Drinking Pruno|CDC EID." Centers for Disease Control and Prevention. 1 Jan. 2009. Web. 10 May 2010.
Dictionary.com|Find the Meanings and Definitions of Words at Dictionary.com. Web. 10 May 2010.
Yersinia pestis in bobcats and pumas
Yersinia pestis is a causative agent of plague in mammals. Y. pestis is a group A bioterroism agent causes zoonotic disease transmitted to humans through flea bites, usually appear swollen and tender. Domestic cats are a high source of human plaque infections in North America, which puts pet owners and veterinarians at risk for Y. pestis infections. Twelve cases of transmission of plaque from nondomestic animals have been reported, including direct contact with puma which eventually resulted in death.
Pumas and bobcats are the most widepsread felids in U.S. because the distance they travel. They both may reintroduce Y. pestis positive fleas into distant regions which can greatly contribute to the spread of the plague. The study collected samples from both bobcats and pumas in western United States to analyze for Y.pestis antibody using hemagglutination assay. 17.7% had Y.pestis.Geographic location, capture season, and age were significant factors to the percentage. Colorado had 38% positive animals, whereas California had limited plague seroreactivity of 2.2% of animals tested positive for plague exposure. Death caused by plagues have been documented in wild felids and still remains a concern for vets and hunters.
Bevins SN, Tracey JA, Franklin SP, Schmit VL, MacMillan ML, Gage KL, et al, "Wild felids as hosts for human plague, western United States"Emerging Infectious Diseases,December,2009,
Drancourt M, Roux V, Dang LV, Tran-Hung L, Castex D, Chenal-Francisque V, et al,"Genotyping, Orientalis-like Yersinia pestis, and plague pandemics" Emerging Infectious Disease,September 2004,
Pumas and bobcats are the most widepsread felids in U.S. because the distance they travel. They both may reintroduce Y. pestis positive fleas into distant regions which can greatly contribute to the spread of the plague. The study collected samples from both bobcats and pumas in western United States to analyze for Y.pestis antibody using hemagglutination assay. 17.7% had Y.pestis.Geographic location, capture season, and age were significant factors to the percentage. Colorado had 38% positive animals, whereas California had limited plague seroreactivity of 2.2% of animals tested positive for plague exposure. Death caused by plagues have been documented in wild felids and still remains a concern for vets and hunters.
Bevins SN, Tracey JA, Franklin SP, Schmit VL, MacMillan ML, Gage KL, et al, "Wild felids as hosts for human plague, western United States"Emerging Infectious Diseases,December,2009,
Drancourt M, Roux V, Dang LV, Tran-Hung L, Castex D, Chenal-Francisque V, et al,"Genotyping, Orientalis-like Yersinia pestis, and plague pandemics" Emerging Infectious Disease,September 2004,
Saturday, May 8, 2010
Methicillin- Resistant staphylococcus aureus in pultury
Methicillin resistant stapyloccocus aureus (MRSA) is a staph bacteria that does not react to certain antibiotics usually causes skin infection but can also cause other infections.MRSA can be fatal.MRSA is resistant to antibiotics including methicillin, oxacillin, penicillin, and amoxicillin. These skin infections can be spread by kin to skin contact , sharing or touching a person personal item with someone infected, or touching a surface that has been in contact with someone with MRSA.
This study was done to determine if MRSA was present in pultury. There was a random selection of farms in Belgium and at each farm there was 5 laying hens sampled and 5 broiler chickens sampled. 10 farms for laying hens and 14 farms for the broiler chickens. The samples were taken from cloaca and nasal cavity. There were many tests ran on these samples. Of all the samples MRSA was not isolated from any of the laying hens. which can either mean that is just isnt present of the laying hen or that it is but in very low numbers. MRSA was isolated from 8 broiler chicken from only 2 of the 14 farms, a relativly low number. Between the nasal and cloaca amples a total of 15 MRSA isolations were found. Of all the 15 isolated they all showed resistant to 7 drugs and suseptible to 7 drugs.Molecular typing showed that all the samples were found to be spa type t1456.
Persoons D, Van Hoorebeke S, Hermans K, Butaye P, de Kruif A, Haesebrouck F, et al. Methicillin-resistant Staphylococcus aureus in poultry. Emerg Infect Dis [serial on the Internet]. 2009 Mar [date cited]. Available from http://www.cdc.gov/EID/content/15/3/452.htm
Healthcare associated methicillin restistant staphylococcus aureus (HA- MRSA) March 3, 2010 http://www,cdc.gov/ncidod/dhqplar_mrsa.html
This study was done to determine if MRSA was present in pultury. There was a random selection of farms in Belgium and at each farm there was 5 laying hens sampled and 5 broiler chickens sampled. 10 farms for laying hens and 14 farms for the broiler chickens. The samples were taken from cloaca and nasal cavity. There were many tests ran on these samples. Of all the samples MRSA was not isolated from any of the laying hens. which can either mean that is just isnt present of the laying hen or that it is but in very low numbers. MRSA was isolated from 8 broiler chicken from only 2 of the 14 farms, a relativly low number. Between the nasal and cloaca amples a total of 15 MRSA isolations were found. Of all the 15 isolated they all showed resistant to 7 drugs and suseptible to 7 drugs.Molecular typing showed that all the samples were found to be spa type t1456.
Persoons D, Van Hoorebeke S, Hermans K, Butaye P, de Kruif A, Haesebrouck F, et al. Methicillin-resistant Staphylococcus aureus in poultry. Emerg Infect Dis [serial on the Internet]. 2009 Mar [date cited]. Available from http://www.cdc.gov/EID/content/15/3/452.htm
Healthcare associated methicillin restistant staphylococcus aureus (HA- MRSA) March 3, 2010 http://www,cdc.gov/ncidod/dhqplar_mrsa.html
Immunological response of unvaccinated wool factory workers to Anthrax
Recently there was a study performed to determine immunological reactivity to Baccillus anthrax antigens. To accomplish this task scientists conducted serological testing of workers in a factory that performed scouring of wool and goal hair. During 19th and early 20th centuries industrial anthrax was a serious threat when the wool industry was flourishing. Anthrax is a zoonotic desease caused by the spore-forming bacterium Bacillus anthracis. Its spores remain viable in the environment for years, therefore it represents a potential source of infection. The spores of B. anthracis were brought into wool factories with the organic matter that was contaminating the animal fibers. A skin contact with contaminated products from infected animals leads to cutaneous anthrax, the most common type of naturally acquired anthrax infection. In addition, it could also cause a respiratory disease through inhalation of sporulated anthrax.
Today, cases of human anthrax have more rare in Europe, although sometimes can result from contact with imported contaminated materials. In the United States, the most recent and widespread human anthrax epidemic was reported in 1957 in a large goat hair-processing mill in Manchester, New Hampshire. In the most recent study, a Belgium factory, that processes and scours wool and goat hair from all over the world, was inspected and a living anthrax spores were found in goat hair fibers, air dust, and uprocesses wastewater produced from goat hair scouring. At this factroy blood samples were obtained from 66 factory workers and after serological testing that was carried out at 2 time points 6 workers tested positive for having IgG antibodies present.
This study revieled that despite some progess that was made in improving the biological safety of the industrial prodessing of wool and goat hair, Bacillus anthracis still poses a health risk to modern wool workers. In addition, anthrax vaccines that could provide long-term immunity of both the humoral and cellular type, and would be highly desirable for protection of persons working with animal products, are not yet available for the general public.
Web source citations:
Patrick J. Meehan, M.D, "Responding to Detection of Aerosolized Bacillus anthracis by Autonomous Detection Systems in the Workplace" MMWR, April, 2004,.
Pierre Wattiau, "Immunologic Response of Unvaccinated Workers Exposed to Anthrax, Belgium" Emerging Infectious Diseases, October, 2009,.
Today, cases of human anthrax have more rare in Europe, although sometimes can result from contact with imported contaminated materials. In the United States, the most recent and widespread human anthrax epidemic was reported in 1957 in a large goat hair-processing mill in Manchester, New Hampshire. In the most recent study, a Belgium factory, that processes and scours wool and goat hair from all over the world, was inspected and a living anthrax spores were found in goat hair fibers, air dust, and uprocesses wastewater produced from goat hair scouring. At this factroy blood samples were obtained from 66 factory workers and after serological testing that was carried out at 2 time points 6 workers tested positive for having IgG antibodies present.
This study revieled that despite some progess that was made in improving the biological safety of the industrial prodessing of wool and goat hair, Bacillus anthracis still poses a health risk to modern wool workers. In addition, anthrax vaccines that could provide long-term immunity of both the humoral and cellular type, and would be highly desirable for protection of persons working with animal products, are not yet available for the general public.
Web source citations:
Patrick J. Meehan, M.D, "Responding to Detection of Aerosolized Bacillus anthracis by Autonomous Detection Systems in the Workplace" MMWR, April, 2004,
Pierre Wattiau, "Immunologic Response of Unvaccinated Workers Exposed to Anthrax, Belgium" Emerging Infectious Diseases, October, 2009,
Friday, May 7, 2010
Melioidosis in a Tropical City State, Singapore
Melioidosis is an infectious disease of humans and animals caused by gram-negative bacillus found in soil and water. The causative agent for Melioidosis is Pseudomonas pseudomallei. This disease is endemic in Southeast Asia and parts of Africa. It was rare in the United States prior to recent immigration from Southeast Asia. Melioidosis is a huge public health issue because it is most common in AIDS patients and intravenous drug users.
The organism enters the body through skin abrasions, burns or wounds which are contaminated by the soil, inhalation of dust or eating food that is contaminated with P.pseudomallei. Person-to-person transmission is unusual. The incubation period is two to three days. Diagnosis should be confirmed through laboratory tests. P.pseudomallei can be cultured from patient’s blood, sputum or tissue from abscesses. There is no form of vaccine for melioidosis. Prevention requires prompt cleansing of scrapes, burns, or other areas where the disease is common and avoidance of needle sharing among drug addicts.
Melioidosis can mimic many other diseases because it can affect almost any organ. A misdiagnosis could be fatal. P.pseudomallei is susceptible to a certain amount of antibiotics. There are endemic areas where melioidosis is an important cause of illness and death in humans and animals. In 1975, a Panda introduced melioidosis to the Paris Zoo. This caused a severe outbreak. The epidemic spread to other zoos in Paris. It wiped out zoo populations and caused two human deaths. Due to this, there are fears that P.pseudomallei could be used as a biological weapon.
Melioidosis is rising as a serious public health problem in many countries. In Singapore the case-fatality rate of melioidosis has decreased. However, it has the potential to come back with adverse climate events such as heavy rainfall and flash floods.
Works Cited:
Lo TJ, Ang LW, James L, Goh KT. Melioidosis in a tropical city state, Singapore. Emerg Infect Dis [serial on the Internet] 2009 Oct [date cited] Available from http://www.cdc.gov/EID/content/15/10/1645.htm
Barnes JL, Ketheesan N. Route of infection in melioidosis. Emerg Infect Dis [serial on the Internet]. 2005 Apr [date cited]. Available from http://www.cdc.gov/ncidod/EID/vol11no04/04-1051.htm
The organism enters the body through skin abrasions, burns or wounds which are contaminated by the soil, inhalation of dust or eating food that is contaminated with P.pseudomallei. Person-to-person transmission is unusual. The incubation period is two to three days. Diagnosis should be confirmed through laboratory tests. P.pseudomallei can be cultured from patient’s blood, sputum or tissue from abscesses. There is no form of vaccine for melioidosis. Prevention requires prompt cleansing of scrapes, burns, or other areas where the disease is common and avoidance of needle sharing among drug addicts.
Melioidosis can mimic many other diseases because it can affect almost any organ. A misdiagnosis could be fatal. P.pseudomallei is susceptible to a certain amount of antibiotics. There are endemic areas where melioidosis is an important cause of illness and death in humans and animals. In 1975, a Panda introduced melioidosis to the Paris Zoo. This caused a severe outbreak. The epidemic spread to other zoos in Paris. It wiped out zoo populations and caused two human deaths. Due to this, there are fears that P.pseudomallei could be used as a biological weapon.
Melioidosis is rising as a serious public health problem in many countries. In Singapore the case-fatality rate of melioidosis has decreased. However, it has the potential to come back with adverse climate events such as heavy rainfall and flash floods.
Works Cited:
Lo TJ, Ang LW, James L, Goh KT. Melioidosis in a tropical city state, Singapore. Emerg Infect Dis [serial on the Internet] 2009 Oct [date cited] Available from http://www.cdc.gov/EID/content/15/10/1645.htm
Barnes JL, Ketheesan N. Route of infection in melioidosis. Emerg Infect Dis [serial on the Internet]. 2005 Apr [date cited]. Available from http://www.cdc.gov/ncidod/EID/vol11no04/04-1051.htm
Saturday, May 1, 2010
Avian Influenza Virus A (H7N3) in Domestic Poultry, Saskatchewan, Canada, 2007
A highly pathogenic strain of Virus A was isolated from domestic poultry after an outbreak of infection and death among the hen and rooster population at a local farm barns in Regina Beach, Saskatchewan. At one barn, over two-thirds of the rooster population was dead within a couple days of noticed outbreak.
The birds were sampled and the samples sequenced and compared to known strains of the pathogen. After a successful test using RT-PCR assays revealed the identity of the agent as the H7N3 avian flu virus. Subsequently, epidemiological testing suggested of transmission of the virus through wild water birds from nearby natural body of water. Serological testing pointed out antibodies against the avian virus. In addition, phylogenetic analysis seemed to prove the hypothesis that the strain was transmitted from a wild bird of Anseriformes or Charadriiformes.
Influenza virus A belongs to the family Orthomyxoviridae with 16 HA and 9 NA subtypes currently identified. The H7N3 strain specifically targets avian creatures, but human subjects infected with the virus also occur, but are much less common.
One of the possible modes for human infections with the H7N3 results from handling of infected poutry.
Citations
Berhane Y, Hisangaga T, Kehler H, Neufeld J, Manning L, Argue C, et al. Highly pathogenic avian influenza virus A (H7N3) in domestic poultry, Saskatchewan, Canada, 2007. Emerging Infection Diseases. http://www.cdc.gov/EID/content/15/9/1492.htm
Belser J, Bridges C, Katz J, and Tumpey T, "Past, Present, and Possible Future Human Infection with Influenza Virus A Subtype H7." Emerging Infectious Diseases. June 2009. http://www.cdc.gov/EID/content/15/6/pdfs/859.pdf
Morgan O, Kuhne M, Nair P. "Personal Protection Equipment and Risk for Avian Influenza (H7N3)." Emerging Infectious Diseases. January 2009. http://www.cdc.gov/eid/content/151/1/59.htm
The birds were sampled and the samples sequenced and compared to known strains of the pathogen. After a successful test using RT-PCR assays revealed the identity of the agent as the H7N3 avian flu virus. Subsequently, epidemiological testing suggested of transmission of the virus through wild water birds from nearby natural body of water. Serological testing pointed out antibodies against the avian virus. In addition, phylogenetic analysis seemed to prove the hypothesis that the strain was transmitted from a wild bird of Anseriformes or Charadriiformes.
Influenza virus A belongs to the family Orthomyxoviridae with 16 HA and 9 NA subtypes currently identified. The H7N3 strain specifically targets avian creatures, but human subjects infected with the virus also occur, but are much less common.
One of the possible modes for human infections with the H7N3 results from handling of infected poutry.
Citations
Berhane Y, Hisangaga T, Kehler H, Neufeld J, Manning L, Argue C, et al. Highly pathogenic avian influenza virus A (H7N3) in domestic poultry, Saskatchewan, Canada, 2007. Emerging Infection Diseases. http://www.cdc.gov/EID/content/15/9/1492.htm
Belser J, Bridges C, Katz J, and Tumpey T, "Past, Present, and Possible Future Human Infection with Influenza Virus A Subtype H7." Emerging Infectious Diseases. June 2009. http://www.cdc.gov/EID/content/15/6/pdfs/859.pdf
Morgan O, Kuhne M, Nair P. "Personal Protection Equipment and Risk for Avian Influenza (H7N3)." Emerging Infectious Diseases. January 2009. http://www.cdc.gov/eid/content/151/1/59.htm
Friday, March 19, 2010
Familia Dysautonomia
1)Familia Dysautonomia is an autonomic nervous system disorder that affects the development of sensory whether its sympathetic or parasympathetic in the autonervous system resulting in symptoms like: gastrointestinal problems, bouts of severe vomiting, recurrent pneumonia, altered sensitivity to pain and temperature and unstable heart rate, blood pressure and body temp. FD is caused by mutations in the IKBKAP gene. The disease is inherited to only a child who recieves two mutated copies of the IKBKAP gene (one from each parent) will get the disease. FD mainly affects people with Ashkenazi Jewish ancestry, and the two mutations 23andme provides data for - IVS20+6T>C and R696P - account for more than 99% of cases in this population.
2)Genetic testing can be beneficial in several ways in preventing a disease before it is diagnosed, - knowing what types of diseases you may inherit is always helpful in our daily healthy lifestyle. It may provide a sense of relief from uncertainty and help people make informed decisions about managing their health care.
Some of the disadvantages of genetic testing may be that it affects our civil rights. Yet recieving a negative genetic test can also affect family relations, with many individuals feeling "survivor guilt", for example if they have a brother or sister who has been shown to carry that gene alteration, they may feel guilty at having escaped the increased cancer risk, while their sibling is still at risk. A person may suffer severe depression like symptoms if diagnosed.
3) Yes, I would highly encourage myself and others to undergo personal genetic testing because of the curiosity of what types of diseases I might inherited from my past ancestors. If I do recieve a negative genetic test result, I will keep a positive outcome on the ability to prevent a horrendous disease whether it is avoidable or not.
2)Genetic testing can be beneficial in several ways in preventing a disease before it is diagnosed, - knowing what types of diseases you may inherit is always helpful in our daily healthy lifestyle. It may provide a sense of relief from uncertainty and help people make informed decisions about managing their health care.
Some of the disadvantages of genetic testing may be that it affects our civil rights. Yet recieving a negative genetic test can also affect family relations, with many individuals feeling "survivor guilt", for example if they have a brother or sister who has been shown to carry that gene alteration, they may feel guilty at having escaped the increased cancer risk, while their sibling is still at risk. A person may suffer severe depression like symptoms if diagnosed.
3) Yes, I would highly encourage myself and others to undergo personal genetic testing because of the curiosity of what types of diseases I might inherited from my past ancestors. If I do recieve a negative genetic test result, I will keep a positive outcome on the ability to prevent a horrendous disease whether it is avoidable or not.
Thursday, March 18, 2010
Atrial Fibrillation
1) Atrial fibrillation is characterized by chaotic electrical signals in the heart that cause the upper chambers (atria) to quiver. It is the most common type of sustained irregular heart rhythm, and while it is not usually life threatening on its own, it can have deadly complications. Atrial fibrillation can disturb smooth blood flow, increasing the risk of clots that can cause organ damage or stroke. The heart’s ability to pump blood can also deteriorate, leading to heart failure. The most common causes of atrial fibrillation are heart abnormalities and heart muscle damage, but in at least 10 percent of cases there is no underlying heart disease that explains the condition.
Most causes for Atrial Fibrillation are: hypertension (high blood pressure),Coronary artery disease, Heart valve disease, After heart surgery, Chronic lung disease, Heart failure, and Pulmonary embolism.
In at least ten percent of the cases, no underlying heart disease is found. In these cases, AF may be related to alcohol or excessive caffeine use, stress, certain drugs, electrolyte or metabolic imbalances, or severe infections. In some cases, no cause can be found. The risk of AF increases with age, particularly after age 60.
2) I think that one benefit to personal genetic testing is that it may be able to prevent disease by giving people a warning about what they are at risk for so that they may take the appropriate measures to maybe prevent acquiring the disease that they are at risk for. One concern is that if someone were to find out that they were at risk for some disease, they would suffer from severe depression after wards and would not be able to enjoy life, because they would always be worried about and thinking about this disease that they are at risk for.
3) If I had the opportunity, to undergo personal genetic testing, I don't think that I would do it, because I'd rather not know what I am at risk for because it will just stress me out even though I may never even get the disease. I would rather just try to live a healthy life and try my best to stay healthy and protect myself from any diseases this way.
Most causes for Atrial Fibrillation are: hypertension (high blood pressure),Coronary artery disease, Heart valve disease, After heart surgery, Chronic lung disease, Heart failure, and Pulmonary embolism.
In at least ten percent of the cases, no underlying heart disease is found. In these cases, AF may be related to alcohol or excessive caffeine use, stress, certain drugs, electrolyte or metabolic imbalances, or severe infections. In some cases, no cause can be found. The risk of AF increases with age, particularly after age 60.
2) I think that one benefit to personal genetic testing is that it may be able to prevent disease by giving people a warning about what they are at risk for so that they may take the appropriate measures to maybe prevent acquiring the disease that they are at risk for. One concern is that if someone were to find out that they were at risk for some disease, they would suffer from severe depression after wards and would not be able to enjoy life, because they would always be worried about and thinking about this disease that they are at risk for.
3) If I had the opportunity, to undergo personal genetic testing, I don't think that I would do it, because I'd rather not know what I am at risk for because it will just stress me out even though I may never even get the disease. I would rather just try to live a healthy life and try my best to stay healthy and protect myself from any diseases this way.
Canavan disease
Canavan disease is caused by a mutation in the ASPA gene. This mutation in ASPA causes a deficientcy in an enzyme called aspartoaclyase. Because of this deficientcy of aspartoaclyase the body builds p and enzyme called N-acetylaspartic acid (NAA). This build up of NAA causes the myelin in g the brain (white matter) to be broke down which has numerous effects on the CNS. Som effects include mental retardation, los of motor skills, abnormal muscle tone and many more. Although most people with canavan disease die during chilhood, some rare cases are seen in adults.
The Ashkenazi Jewish population account for 98% of the carriers for 2 of the 3 genes that cause Canavans disease. Theses genes are Y231X and E285A. These genes are only foud in 3% of non Jewish descent. nother gene that causes canavans disease is A305E and is found in 40-60% of non Jewish patiens with canavans disease.
Although there are many benefits from getting personal genetic testing, the possibility of finding out something horrible like being predisposed to canavs disease would be a hard pill to swallow. personally I would love to get tested so that I could take proactive measures against any disease that I'm suceptable to.
The Ashkenazi Jewish population account for 98% of the carriers for 2 of the 3 genes that cause Canavans disease. Theses genes are Y231X and E285A. These genes are only foud in 3% of non Jewish descent. nother gene that causes canavans disease is A305E and is found in 40-60% of non Jewish patiens with canavans disease.
Although there are many benefits from getting personal genetic testing, the possibility of finding out something horrible like being predisposed to canavs disease would be a hard pill to swallow. personally I would love to get tested so that I could take proactive measures against any disease that I'm suceptable to.
Glycogen Storage Disease type 1a
Glycogen Storage Disease type 1a
1. Glycogen storage disease type 1a is a metabolic disorder. This genetic disorder results by defects in the gene for an enzyme called glucose-6-phosphatease. This disorder prevents the release of glucose form the liver into the bloodstream causing low blood glucose. Reduced glycogen breakdown results in increased glycogen storage in the liver and kidney and cause enlargement of both organs. Approximately one in 100,000 people carries a mutation in both copies of the gene and affected by the disorder. Jewish people are most affected because of prevalence of a particular mutation among Jews and central and eastern European descent. GSD type 1a is inherited in a recessive manner, which means that only a child who receives two mutated copies of the gene for G6pase will get the disease. More than 85 known mutation of the gene have been documented.
2. One of the benefits of personal genetic testing is knowing about your health condition in the future. It will encourage you to choose a healthy life style in order to prevent certain diseases. However, one of the concerns would be that knowing what disease you might get in the future will make you stressful and lead you to a serious depression.
3. If I could undergo personal genetic testing from 23andMe for free, I would not do it because I am skeptical about this test and I don’t believe it is true. In addition, I don’t want to know what disease I might get in the future because it will affect my self steam and make my life miserable.
1. Glycogen storage disease type 1a is a metabolic disorder. This genetic disorder results by defects in the gene for an enzyme called glucose-6-phosphatease. This disorder prevents the release of glucose form the liver into the bloodstream causing low blood glucose. Reduced glycogen breakdown results in increased glycogen storage in the liver and kidney and cause enlargement of both organs. Approximately one in 100,000 people carries a mutation in both copies of the gene and affected by the disorder. Jewish people are most affected because of prevalence of a particular mutation among Jews and central and eastern European descent. GSD type 1a is inherited in a recessive manner, which means that only a child who receives two mutated copies of the gene for G6pase will get the disease. More than 85 known mutation of the gene have been documented.
2. One of the benefits of personal genetic testing is knowing about your health condition in the future. It will encourage you to choose a healthy life style in order to prevent certain diseases. However, one of the concerns would be that knowing what disease you might get in the future will make you stressful and lead you to a serious depression.
3. If I could undergo personal genetic testing from 23andMe for free, I would not do it because I am skeptical about this test and I don’t believe it is true. In addition, I don’t want to know what disease I might get in the future because it will affect my self steam and make my life miserable.
Celiac Disease
1. Celiac Disease causes inflammation in the small intestine due to an auto-immune response in which the immune system is triggered by "wheat gluten," an environmental factor that gets mistaken as a Pathogen. Rye and Barley antigens can also cause this immune response. As a result, this disrupts the digestion process and causes symptoms such as gas and diarrhea. About 40% of the heritable risk can be attributed to the HLA Class II genes, but the other non-HLA genes have yet to be identified.
23andme tested the TT genotype and found that people who have this genotype are 1 to 1.49 times more likely to inherit Celiac disease.
2. One good reason for genetic testing is that it can reveal potential diseases/conditions that we may be prone to developing. Perhaps the best medicine is preventative medicine, so knowing what may lie ahead, can give us an advantage in that we can possibly avoid, prevent or mitigate the onset of any disease/condition that we may be susceptible to. One concern is that once you have a genetic reading, which may reveal some potential for a life threatening disease, and if it does, that can cause even more unnecessary stress (cortisol production). We may not be able to control what conditions await us int he future, so why worry about it now.
3. I would not do the free genetic test because if I find out that I will develop some life altering disease, I would most likely become depressed and I don't have any desire to live my life that way.
23andme tested the TT genotype and found that people who have this genotype are 1 to 1.49 times more likely to inherit Celiac disease.
2. One good reason for genetic testing is that it can reveal potential diseases/conditions that we may be prone to developing. Perhaps the best medicine is preventative medicine, so knowing what may lie ahead, can give us an advantage in that we can possibly avoid, prevent or mitigate the onset of any disease/condition that we may be susceptible to. One concern is that once you have a genetic reading, which may reveal some potential for a life threatening disease, and if it does, that can cause even more unnecessary stress (cortisol production). We may not be able to control what conditions await us int he future, so why worry about it now.
3. I would not do the free genetic test because if I find out that I will develop some life altering disease, I would most likely become depressed and I don't have any desire to live my life that way.
Parkinson's Disease
1. Based on 23andme.com, Parkinsons Disease is a neurological disorder that affects the brain's motor center. Onset of the disease becomes noticable late in life, usually after 7o years of age. There are about 1.5 million Americans affected with the diseae now. Symptoms include shaking of limbs and joints, stiffness in and slowed movement of joints, and affected balance and coordination.
The gene that has the biggest association with the disease is the LRRK2 gene. Mutations in the gene is said to cause PD. There are about 50 different variants of the gene, but the best studied on is variant rs34637584. Not all people with this variant end up with PD, even though the allele is dominant.
2. One benefit of the testing performed in such places as 23andme.com may be that it helps give clients a clue on what type of diseases they are prone for, so they can at least make attempts to minimize the onset of the possible disease.
One concern, or disadvantage of this testing is fear and unnecessary worries that the prognosis could generate. Many of the prognoses don't have a good accuracy rate due to ignorance of all the factors that cause the particular disease. Such is an example with PD.
3. If I was offered a personal DNA test, I wouldn't take it, even if it was for free. For one, there is a security concern of the possibility of the results to leak to health insurance companies or other unnecessary parties. Also, even if the results would be disturbing with horrific prognosis of a high possibility of disease such as Parkinsons, I would become unnecessarily preoccupied with trying to defeat the disease, while I could just live a healthy life now and trust God with my unpredicable future in terms of diseases.
The gene that has the biggest association with the disease is the LRRK2 gene. Mutations in the gene is said to cause PD. There are about 50 different variants of the gene, but the best studied on is variant rs34637584. Not all people with this variant end up with PD, even though the allele is dominant.
2. One benefit of the testing performed in such places as 23andme.com may be that it helps give clients a clue on what type of diseases they are prone for, so they can at least make attempts to minimize the onset of the possible disease.
One concern, or disadvantage of this testing is fear and unnecessary worries that the prognosis could generate. Many of the prognoses don't have a good accuracy rate due to ignorance of all the factors that cause the particular disease. Such is an example with PD.
3. If I was offered a personal DNA test, I wouldn't take it, even if it was for free. For one, there is a security concern of the possibility of the results to leak to health insurance companies or other unnecessary parties. Also, even if the results would be disturbing with horrific prognosis of a high possibility of disease such as Parkinsons, I would become unnecessarily preoccupied with trying to defeat the disease, while I could just live a healthy life now and trust God with my unpredicable future in terms of diseases.
Alpha-1 antitrypsin deficiency
1. The alpha-1 antitrypsin (AAT) protein protects the body, especially fragile lung tissues, from the damaging effects of a powerful enzyme called neutrophil elastase that is released from white blood cells. In AAT deficiency, a genetic mutation reduces levels of the protective protein in the bloodstream. AAT deficiency can lead to chronic obstructive pulmonary disease (COPD), specifically emphysema, and liver disease. Smoking, which can inhibit what little AAT protein an affected person does have, increases the risk of lung disease.
AAT deficiency is a genetic disorder caused by mutations in the gene encoding AAT. These mutations trap the protective protein in the liver, reducing its levels in the bloodstream. AAT deficiency can lead to chronic obstructive pulmonary disease (COPD), specifically emphysema, and liver disease. Smoking, which can actually inhibit what little AAT protein an affected person's lungs do contain, increases the risk of COPD.
2.The benefit of personal genetic testing is that person can know if he/she is acquired to certain disease(s) and can make different life choices, which possibly will help to prevent the disease from occurring. Genetic testing provides important information for diagnosing, treating, and preventing of some diseases. The concern of personal genetic testing is that may open up ethical or psychological problem. Person may fall into depression by being told that he/she might develop a disease(s) that are unpreventable and can not be treated.
3. Even if I would have a chance to undergo personal genetic testing from 23andMe for free, I would not do it. I do not want to know what kind of diseases I may have. I want to deal with problems as they arise, and do not want to be afraid of things that may or may not happened.
AAT deficiency is a genetic disorder caused by mutations in the gene encoding AAT. These mutations trap the protective protein in the liver, reducing its levels in the bloodstream. AAT deficiency can lead to chronic obstructive pulmonary disease (COPD), specifically emphysema, and liver disease. Smoking, which can actually inhibit what little AAT protein an affected person's lungs do contain, increases the risk of COPD.
2.The benefit of personal genetic testing is that person can know if he/she is acquired to certain disease(s) and can make different life choices, which possibly will help to prevent the disease from occurring. Genetic testing provides important information for diagnosing, treating, and preventing of some diseases. The concern of personal genetic testing is that may open up ethical or psychological problem. Person may fall into depression by being told that he/she might develop a disease(s) that are unpreventable and can not be treated.
3. Even if I would have a chance to undergo personal genetic testing from 23andMe for free, I would not do it. I do not want to know what kind of diseases I may have. I want to deal with problems as they arise, and do not want to be afraid of things that may or may not happened.
Wednesday, March 17, 2010
Mucolipidosis IV
Mucolipidosis IV is caused by mutations in the mucolipin-1 (MCOLN1) gene that disrupt proper transport of certain fats and sugars within cells. The disease is characterized by mental and physical developmental delay, with language and physical capabilities never progressing much past those of a typical 12- to 15-month-old. There are also effects on the eyes, including corneal clouding and retinal degeneration.
A person must inherit a mutated copy of MCOLN1 from each parent in order to have mucolipidosis IV. If two parents are carriers of a mutation, there is a 25% chance their child will be born with the disorder. There is a 50% chance that their child will be an unaffected carrier for mucolipidosis IV. Each unaffected sibling of an affected child has a two in three chance of being a carrier.
More than 16 mutations in the MCOLN1 gene have been documented so far. In people with Ashkenazi Jewish ancestry, most cases of mucolipidosis are due to two specific mutations. 23andMe reports data for the more common mutation of the two. This mutation — IVS3-2A>G — is found in 70-80% of cases of mucolipidosis IV in Ashkenazi Jews. Approximately one out of every 103 Ashkenazi Jews carries a mutation that causes mucolipidosis IV. About one out of every 137 specifically carries the IVS3-2A>G mutation.
1. One of the advantages of genetic testing, is knowing what to expect. What diseases will affect you and how they will affect. It gives you a choice of not allowing your off-spring a chance to inherit a certain condition. You can center your future around your DNA,
2. If I could test for free, I would not at this point in my life. I will never give birth to a child again. Besides the damage is already done. I have four sons who might have already receive copies of my bad DNA.
A person must inherit a mutated copy of MCOLN1 from each parent in order to have mucolipidosis IV. If two parents are carriers of a mutation, there is a 25% chance their child will be born with the disorder. There is a 50% chance that their child will be an unaffected carrier for mucolipidosis IV. Each unaffected sibling of an affected child has a two in three chance of being a carrier.
More than 16 mutations in the MCOLN1 gene have been documented so far. In people with Ashkenazi Jewish ancestry, most cases of mucolipidosis are due to two specific mutations. 23andMe reports data for the more common mutation of the two. This mutation — IVS3-2A>G — is found in 70-80% of cases of mucolipidosis IV in Ashkenazi Jews. Approximately one out of every 103 Ashkenazi Jews carries a mutation that causes mucolipidosis IV. About one out of every 137 specifically carries the IVS3-2A>G mutation.
1. One of the advantages of genetic testing, is knowing what to expect. What diseases will affect you and how they will affect. It gives you a choice of not allowing your off-spring a chance to inherit a certain condition. You can center your future around your DNA,
2. If I could test for free, I would not at this point in my life. I will never give birth to a child again. Besides the damage is already done. I have four sons who might have already receive copies of my bad DNA.
Age-related macular degeneration
1.Age-related macular degeneration (AMD) is a disease that is known to be the most common cause of irreversible vision loss in the western hemisphere among people over the age of sixty. The disease also affects the central part of the retina, which is very important for daily activities, such as reading, driving, and recognizing faces. Some people might not even know that they have AMD because it can develop slowly. However, most people experience a rapid loss of sight in both eyes from this disease. Vision that is lost due to AMD cannot be restored, but there are treatments that can slow down its development. Regular, comprehensive eye exams are also recommended to detect any early signs of AMD.
The CFH gene was tested by 23andme for AMD. Such a gene encodes a protein that regulates the complement system, which is an important part of the immune system because it clears out pathogens and cellular debris. However, if the complement system loses control, it can lead to persistent inflammation and can damage the body’s own cells. In response to elevated levels of C-reactive protein (CRP), the CFH helps to stop the complement system from losing control. Thus, CPR is normally recruited to sites of injury, which are places where the tissue might be vulnerable to outside invaders.
Variations in the DNA sequence (SNP) in the CFH gene can affect a region of the CFH protein that is important for binding to CRP. It has been known that excess levels of CRP can lead to an overactive complement system, which damages the eye tissue. Since scientists have identified CFH SNP as a major genetic factor for AMD, it has helped to research for possible treatments.
2.A benefit for personal genetic testing is that one will know if he or she carries a gene for a life-threatening disease. The only concern for genetic testing is that it can determine whether or not someone is eligible to receive health care.
3. If I could undergo personal genetic testing for free, I would say, “No way.” I would not be able to handle the stress of knowing whether I was healthy or not. The best way is to live your life day by day and to put your health as your number one priority.
The CFH gene was tested by 23andme for AMD. Such a gene encodes a protein that regulates the complement system, which is an important part of the immune system because it clears out pathogens and cellular debris. However, if the complement system loses control, it can lead to persistent inflammation and can damage the body’s own cells. In response to elevated levels of C-reactive protein (CRP), the CFH helps to stop the complement system from losing control. Thus, CPR is normally recruited to sites of injury, which are places where the tissue might be vulnerable to outside invaders.
Variations in the DNA sequence (SNP) in the CFH gene can affect a region of the CFH protein that is important for binding to CRP. It has been known that excess levels of CRP can lead to an overactive complement system, which damages the eye tissue. Since scientists have identified CFH SNP as a major genetic factor for AMD, it has helped to research for possible treatments.
2.A benefit for personal genetic testing is that one will know if he or she carries a gene for a life-threatening disease. The only concern for genetic testing is that it can determine whether or not someone is eligible to receive health care.
3. If I could undergo personal genetic testing for free, I would say, “No way.” I would not be able to handle the stress of knowing whether I was healthy or not. The best way is to live your life day by day and to put your health as your number one priority.
Tuesday, March 16, 2010
Malaria Resistance
1) Parasites that cause the disease can be transferred from person to person by mosquitoes, malaria is ususally restricted to tropical and subtropical areas of the world where these insects thrive-the area hit hardest is Sub-Saharan Africa. The symptoms of malaria can be fever, chills, sweats, headaches, nausea, in severe cases neurological problems, anemia, respiratory problems, shock, and kidney failure. When a malaria-carrying mosquito bites someone, it injects the parasites it had picked up, which then make their way into the victim's red blood cells to multiply. One species of malaria parasite, Plasmodium vivax, exploits a protein on the surface of red blood cells, the "Duffy antigen," in order to enter cells. Some people, referred to as "Duffy-negative," lack the Duffy antigen on their red blood cells and are rendered resistant to infection by P.vivax malaria.
2) One of the benefits about personal genetic testing is knowing your health condition helps you plan important things in life. And one concern is that you can face really big health issue and it might discourage you make your life miserable.
3) If I could undergo personal genetic testing from 23andMe for free, I would not do it. Because I don't want to know what is going to happen in my future ahead of time. I want to live my life as I do now.
2) One of the benefits about personal genetic testing is knowing your health condition helps you plan important things in life. And one concern is that you can face really big health issue and it might discourage you make your life miserable.
3) If I could undergo personal genetic testing from 23andMe for free, I would not do it. Because I don't want to know what is going to happen in my future ahead of time. I want to live my life as I do now.
Monday, March 15, 2010
BRCA cancer mutations (selected)
1.BRCA1 and BRCA2 encode proteins involved in repairing DNA damage. BRCA1 and BRCA2 mutations are reported to be responsible for most of inherited breast cancer and ovarian cancer in women. These same mutations for men have been reported to cause an increase risk for breast cancer and possibly prostate cancer as well. Three specific cancer associated mutations were found in people with Ashkenazi Jewish ancestry-185delAG in BRCA1, 5382insC in BRCA1 and 6174delT in BRCA2.These mutations are caused by deletion or addition of one or more letters in DNA sequence. These three mutations reported to be causing up to 80-90% of heredity ovarian and breast cancers in this ethnic group. The test showed that the Ashkenazi Jewish with 185delAG , 5382insC BRCA1, or 6174deIT BRCA2 mutation their risk of developing breast cancer is approximately 19% at age 40 but rises significantly to approximately 82% by age 80.
2.By someone telling you that you are more likely to acquire certain disease(s) and taking the steps to possibly preventing the disease from occurring is a benefit if you are able to prevent disease. Even if the disease did occur despite your efforts of trying to prevent it, if you were told exercise/eating healthy could prevent disease, you still benefit by trying by living a healthier lifestyle. However on the otherside, when people are told they might develop a disease(s) that are unpreventable and incurable could really upset somebody leading into depression and a meaningless life for many.
3. I wouldn’t get tested from 23andMe even if it were free. I live a healthy lifestyle as it as by eating well and exercising, so as far as preventing any disease am already doing so. Knowing what disease I might get would just be discouraging to me therefore I rather not know.
2.By someone telling you that you are more likely to acquire certain disease(s) and taking the steps to possibly preventing the disease from occurring is a benefit if you are able to prevent disease. Even if the disease did occur despite your efforts of trying to prevent it, if you were told exercise/eating healthy could prevent disease, you still benefit by trying by living a healthier lifestyle. However on the otherside, when people are told they might develop a disease(s) that are unpreventable and incurable could really upset somebody leading into depression and a meaningless life for many.
3. I wouldn’t get tested from 23andMe even if it were free. I live a healthy lifestyle as it as by eating well and exercising, so as far as preventing any disease am already doing so. Knowing what disease I might get would just be discouraging to me therefore I rather not know.
Sunday, March 14, 2010
Factor XI deficiency
1. Factor XI deficiency is a type of hemophilia caused by mutations that cause a deficiency of clotting factor XI. Clotting factor XI is a protein that helpt body seal up breaches in blood vessels that are caused by injury such as a tumble off of your first bike or a shaving nick caused by a dull blade. Both males and females have equal chance of having factor XI deficiency. There is a great deal of variation in how factor XI deficiecy affects people. Some people will never experience abnormal bleeding, while others will bleed profusely after minor injuries. This disease is particularly common in people with Ashkenazi Jewish ancestry. Approximately one out of every 23 Ashkenazi Jews carries a mutation that can cause factor XI deficiency. 23andMe reports data for the three most common factor XI deficiency-causing mutations-F282L, E117X and IVS14-G>A. The F283L mutation is unique to Ashkenazi Jews population. The E117X mutation is found in low frequencies in other populations. Factor XI deficiency caused by these mutations is inherited in a recessive manner, meaning that only a child who receives two copies of a mutation (one from each parent) will get the disease.
2. Genetic testing can provide a sense of relief from uncertainty and help people make informed decisions about managing their healthcare. In addition, it can provide important information for diagnosing, treating, and preventing illnesses. On contrary, genetic testing results can reveal deadly disease that can cause people become depressed and can lead to suicidal attempts.
2. Genetic testing can provide a sense of relief from uncertainty and help people make informed decisions about managing their healthcare. In addition, it can provide important information for diagnosing, treating, and preventing illnesses. On contrary, genetic testing results can reveal deadly disease that can cause people become depressed and can lead to suicidal attempts.
3. Even if I could undergo personal genetic testing from 23andMe for free I would still not bother to waste my time on getting it. I do not see any benefit in getting to know about my future diseases because if I do, it would interfier with my daily life in case I am carrier of some scary diseases. One of colonical expressions in my language says: "If your eyes don't see it, you heart would not hurt."
Sickle cell anemia and Malaria resistance
1. Sickle cell anemia is an inherited blood disorder that affects hemoglobin throughout the body. It disrupts this important process by distorting normally flexible disc-shaped RBC's into stiff crescents that get stuck inside the blood vessels as the blockage leads to pain and organ damage.
A version of a SNP, one of the genes that makes the clump prone type of hemoglobin that leads to mishapen cells causes sickle cell anemia. People with two copies of the version of this SNP have the disease while people who with just one copy are carriers but they do not usually have any symptoms of disease.
2. One benefit about personal genetic testing that you learned that early identification and treatment greatly improved health and life expectancy. One concern about personal genetic testing may open up ethical or psychological problem.
3. If I could undergo personal genetic testing from 23andMe for free, I would do it because it may provide additional information about the increased risk from developing the disease. It may also provide relief from anxiety if I learn that I do not carry an altered gene.
A version of a SNP, one of the genes that makes the clump prone type of hemoglobin that leads to mishapen cells causes sickle cell anemia. People with two copies of the version of this SNP have the disease while people who with just one copy are carriers but they do not usually have any symptoms of disease.
2. One benefit about personal genetic testing that you learned that early identification and treatment greatly improved health and life expectancy. One concern about personal genetic testing may open up ethical or psychological problem.
3. If I could undergo personal genetic testing from 23andMe for free, I would do it because it may provide additional information about the increased risk from developing the disease. It may also provide relief from anxiety if I learn that I do not carry an altered gene.
Saturday, March 13, 2010
Fanconi Anemia
Fanconi Anemia mainly causes failure of the bone marrow to produce red blood cells, but can also cause skeletal malformations, skin discoloration and low birth weight. 23and me tests for FANCC, which is the gene that repairs damage to DNA. FANCC is tested to look for three mutations: IVS4+4A>T, R548X and 322delG.
I think a benefit for genetic testing would be find out if you are at a greater risk for a life threatening disease. Some people can make better decisions about their lives and how they can better themselves and their families. One concern to genetic testing would be that someone wouldn't take the news too well and would end their life because of what they found out. I probably would do the testing if I had an option of having it done for free. I would especially like to know what my risk factors for cancer were because I think it would better prepare me and I could make some changes to my lifestyle health wise. I also would change how I lived my life like not worry about the small stuff or try things I would normally be afraid to try. We all say life is short and we should live our life to the fullest, but I don't think someone does until they really know how short life really is.
I think a benefit for genetic testing would be find out if you are at a greater risk for a life threatening disease. Some people can make better decisions about their lives and how they can better themselves and their families. One concern to genetic testing would be that someone wouldn't take the news too well and would end their life because of what they found out. I probably would do the testing if I had an option of having it done for free. I would especially like to know what my risk factors for cancer were because I think it would better prepare me and I could make some changes to my lifestyle health wise. I also would change how I lived my life like not worry about the small stuff or try things I would normally be afraid to try. We all say life is short and we should live our life to the fullest, but I don't think someone does until they really know how short life really is.
Friday, March 12, 2010
Connexin 26-related sensorineural hearing loss
1. Between 1 and 3 out of every 1000 children born have some type of hearing loss. Nonsyndromic sensorineural hearing loss (NSHL) due to genetic causes can be caused by mutations in many different genes, including GJB2. 23andMe reports data for two GJB2 mutations — 35delG and 167delT.This gene encodes a protein called connexin 26. mutations in GJB2 is present from birth but can vary in severity, from moderate to profound. Nonsyndromic accounts for 70% of all genetic cases.More than 90 mutations that can lead to deafness come from the gene GJB2. Mutations reported by 23 and me is inherited in a ressesive manner.Even if your data indicate you are not a carrier you may still have a mutation (in GJB2 or another gene) or be affected by NSHL.
2.There can be both benefits and consequences/concerns that can come from personal genetic testing. One benefit of the testing can be you learning what you are at risk for and then being able to take the nessecary precautions, one being maybe if you kno that you are a carrier of a gene that would really affect a child then you can make sure that you dont have a child with a mate that carries the same trait. A concern that can come from getting genetic personal testing done is that some people may become depressed or angry from their result because they may find out that they will develope a diease that leads to a really hard life to live.
3. If I could undergo personal genetic testing from 23and me for free I still would not get it done.I wouldn't get the testing done because I feel like there is not a lot I can do if I were to find something out and im not sure how I would take bad news, so I will stay away from the testing.
2.There can be both benefits and consequences/concerns that can come from personal genetic testing. One benefit of the testing can be you learning what you are at risk for and then being able to take the nessecary precautions, one being maybe if you kno that you are a carrier of a gene that would really affect a child then you can make sure that you dont have a child with a mate that carries the same trait. A concern that can come from getting genetic personal testing done is that some people may become depressed or angry from their result because they may find out that they will develope a diease that leads to a really hard life to live.
3. If I could undergo personal genetic testing from 23and me for free I still would not get it done.I wouldn't get the testing done because I feel like there is not a lot I can do if I were to find something out and im not sure how I would take bad news, so I will stay away from the testing.
Wednesday, March 10, 2010
Crohn's Disease
1. Crohn's disease is a chronic inflammatory disease of the intestines. It causes ulcerations in the small and large intestines, but can affect the digestive system anywhere between the mouth and the anus. Cramping, bleeding and diarrhea are symptoms. It is thought that 50-60% of people with Crohn's Disease did inherit it. This estimate is a little more than people who get the disease by environmental factors. This disease has increased over the last half century, which could mean that the modern lifestyle today may have triggered new environmental reasons for Crohn's Disease. Antigens and foreign substances from diet or from bacteria in your stomach may start an inflammation.
This abnormally active immune system is believed to be genetically inherited. First degree relatives of patients with Crohn's disease are more likely to develop the disease. Furthermore, certain chromosome markers have been found in patients with Crohn's disease. The gene NO2 encodes a protein that regulates process of programmed cell death, apoptosis. The function is to recognize the bacteria components that enter a type of immune cell, which gives a signal to the rest of the immune system. The official symbol of this gene is NO2, Gene ID #64127, located on Chromosome 16.
2. Benefit of genetic testing: By knowing the odds of their having an affected child, families can make better-informed decisions and possibly explore options for starting a healthy family.
Concern of testing:Many of the risks associated with genetic testing involve the emotional, social, or financial consequences of the test results. People may feel angry, depressed, anxious, or guilty about their results.
3. Yes, if I could afford to have the genetic testing done, I would probably have the test. It would be nice to know what diseases that I am predisposed to. I already know that heart disease runs in my family, so why not verify the possibility of obtaining that disease and begin changing my lifestyle to live longer.
This abnormally active immune system is believed to be genetically inherited. First degree relatives of patients with Crohn's disease are more likely to develop the disease. Furthermore, certain chromosome markers have been found in patients with Crohn's disease. The gene NO2 encodes a protein that regulates process of programmed cell death, apoptosis. The function is to recognize the bacteria components that enter a type of immune cell, which gives a signal to the rest of the immune system. The official symbol of this gene is NO2, Gene ID #64127, located on Chromosome 16.
2. Benefit of genetic testing: By knowing the odds of their having an affected child, families can make better-informed decisions and possibly explore options for starting a healthy family.
Concern of testing:Many of the risks associated with genetic testing involve the emotional, social, or financial consequences of the test results. People may feel angry, depressed, anxious, or guilty about their results.
3. Yes, if I could afford to have the genetic testing done, I would probably have the test. It would be nice to know what diseases that I am predisposed to. I already know that heart disease runs in my family, so why not verify the possibility of obtaining that disease and begin changing my lifestyle to live longer.
Bloom's Syndrome
1. Bloom's syndrome is caused by mutations in the BLM gene. Bloom's syndrome is a rare inherited disorder characterized by multiple breaks and rearrangements in a person's chromosomes. This DNA damage greatly increases the risk of developing many cancers early in life. Recurrent infections, chronic pulmonary disease, skin discoloration and type 2 diabetes are also common complications of Bloom's syndrome.
2. Genetic testing is important because a person must inherit a mutated copy of this gene from each parent in order to have the disorder. It would be smart to be tested prior to deciding on having a child in order to prevent the posibility of him or her having Bloom's syndrome.
3. I would get tested for free from 23andMe. It would make me more careful about food choices and encourage me to exercise and stay heathy so i can attempt to beat whatever disease it said I MIGHT get..
2. Genetic testing is important because a person must inherit a mutated copy of this gene from each parent in order to have the disorder. It would be smart to be tested prior to deciding on having a child in order to prevent the posibility of him or her having Bloom's syndrome.
3. I would get tested for free from 23andMe. It would make me more careful about food choices and encourage me to exercise and stay heathy so i can attempt to beat whatever disease it said I MIGHT get..
Monday, March 1, 2010
Crohn's disease
1. Crohn's disease is a disorder causing inflammation of the digestive tract. Inflammation causes pain and usually makes intestines to empty frequently, causing diarrhea.
2. The gene name is NOD2 nucleotide-binding oligomerization domain containing 2. The gene id is 64127.
3. Protein is found in blood plays important role in immune response by recognizing muramyl dipeptide (MDP) and by activation of NFKB protein.
Tuesday, February 23, 2010
Menke's syndrome
The gene name: ATPase, Cu2+ transporting, alphapolypeptides [Homo sapiens]
The gene ID: 538
This gene encodes a protein which functions in copper transport across membranes where eventually mutations of this particular gene result in the Purkinje cell dendrites of the brain & Menke's syndrome results.
Menke's syndrome is an inborn error of "Metabolism", & it decreases the cell's ability to absorb Cu.
This causes severe cerebral degeneration and arterial changes-resulting in death in infants. Interestingly enough, the disease can be diagnosed as easily as by merely gazing upon a Menke's syndrome victim's scalp/head of hair-which appears to be whitish as well as kinked under a microscope.
This syndrome is transmitted as an X-linked recessive trait. If administered within the first months of life, Cu histidinate is sometimes effective in increasing the life expectancy from three to 13 yrs. of age. This treatment has been very helpful with mice-giving scientists a model organism for gathering insight in how to better help human beings, and their struggle for copper transport mechanisms.
Prader-Willi syndrome
Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. People with Prader-Willi syndrome typically have mental retardation or learning disabilities and behavioral problems. Some people with prader-willi syndrome have an insatiable appetite which lead to obesity.
Gene name is Prader-Willi syndrome chromosome region (homo sapiens) PWRC, and Gene ID is 6638.
The protein plays a role in a pre-MRNA processing, possibly tissue specific alternative splicing events. The protein arises from a bicistronic transcript that also encodes a protein identified as the small nuclear ribonucleoprotein (SNRPN) upstream reading frame (SNURF).
Gene name is Prader-Willi syndrome chromosome region (homo sapiens) PWRC, and Gene ID is 6638.
The protein plays a role in a pre-MRNA processing, possibly tissue specific alternative splicing events. The protein arises from a bicistronic transcript that also encodes a protein identified as the small nuclear ribonucleoprotein (SNRPN) upstream reading frame (SNURF).
Niemann-Pick type C disease
NPC1 gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.
Usually, cellular cholesterol is imported into lysosomes—'bags of enzymes' in the cell—for processing, after which it is released. Cells taken from NP-C patients have been shown to be defective in releasing cholesterol from lysosomes. This leads to an excessive build-up of cholesterol inside lysosomes, causing processing errors. NPC1 was found to have known sterol-sensing regions similar to those in other proteins, which suggests it plays a role in regulating cholesterol traffic.
Hereditary Hemochromotosis
Hereditary hemochromotosis is a disorder that increases the amount of iron that the body absorbs. The normal function of the protein associated with this disease is thought to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin.
Gene name: HFE
Gene number: 3077
Gene name: HFE
Gene number: 3077
Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome is caused by an inherited mutation of the HPRT1 gene on the X-chromosome. Males tend to suffer more from this mutation because they only have one X-chromosome, whereas females have two. Mutations can cause excessive uritic acid accumulation, which can lead to gout and urate stones. Individuals may also have to refrain from biting their fingers and tongues. Mental retardation and sever muscle weakness can occur as well.
Gene Name: HPRT1; Hypoxanthine Phosphoribosyltransferase 1
Gene ID: 3251
The normal gene produces hypoxanthine-guanine phosphoribosyltransferase, an enzyme that speeds up the recycling of purines from broken down DNA and RNA.
Gene Name: HPRT1; Hypoxanthine Phosphoribosyltransferase 1
Gene ID: 3251
The normal gene produces hypoxanthine-guanine phosphoribosyltransferase, an enzyme that speeds up the recycling of purines from broken down DNA and RNA.
Tay-Sachs Disease
Tay-Sachs disease is a inherited condition. Neurogenerative disorder of lipid metabolism. Caused by deficiency of Hexosaminidase A. Generally effects children who will often experience seizures, muscle stiffness, become blind, uncordinated, develop dementhia, and usually die before age four or five.
Gene name is: Hexa
Hexosaminidase A
Gen ID 3073
Abnormal function of enzyme beta-hexosaminidase A. This enzyme normally breaks down a membrane glycolipid called ganglio side GM2. As the excess ganglio side GM2 accumulates, the nerve cells function becomes less efficient.
Gene name is: Hexa
Hexosaminidase A
Gen ID 3073
Abnormal function of enzyme beta-hexosaminidase A. This enzyme normally breaks down a membrane glycolipid called ganglio side GM2. As the excess ganglio side GM2 accumulates, the nerve cells function becomes less efficient.
Diabetes affects our bodies ability to regulate blood glucose levels because of either the inability to make or use insulin. This can result in heart disease, blindness, kidney failure and nuralogical disorders.
"1) a gene at the locus IDDM2 on chromosome 11 and 2) the gene for glucokinase (GCK), an enzyme that is key to glucose metabolism which helps modulate insulin secretion, on chromosome 7."
Monday, February 22, 2010
Adrenoleukodystrophy
Adrenoleukodystrophy is a rare inherited diseases associated with metabolic disorders which accompanied by extensive demyelination dysfunction of the adrenal glands. Thus, the brain accumulates more fat, which over time damage the sheath that protects nerve fibers. The development of the disease begin to torment cramps and developed loss of vision. A few months starting palsy, develops deafness and then the person dies.
The full name of the gene associated with adrenoleukodystrophy:
ATP-binding cassette, sub-family D (ALD), member 1
GeneID: 215
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes.
© http://www.ncbi.nlm.nih.gov/gene/215
Refsum Disease
Refsum disease is also known as a rare disorder of lipid metabolism because it is inherited as a recessive trait. Such disease affects human health by causing peripheral neuropathy, lack of muscle coordination, retinitis pigmentosa, and bone and skin changes.
The gene name for Refsum disease is phytanoyl-CoA 2-hydroxylase. The Gene ID associated with this disease is 5264.
This gene encodes a peroxisomal protein, which is involved in alpha-oxidation of 3-methyl branched fatty acids. Mutations in this gene have shown to be associated with Refsum disease.
The gene name for Refsum disease is phytanoyl-CoA 2-hydroxylase. The Gene ID associated with this disease is 5264.
This gene encodes a peroxisomal protein, which is involved in alpha-oxidation of 3-methyl branched fatty acids. Mutations in this gene have shown to be associated with Refsum disease.
Porphyria is a diverse group of diseases in which production of heme is disrupted. Heme is composed of porphyrin, a large circular molecule made from four rings linked together with an iron atom at its center. When heme productionis faulty, porphyrins are overproducedand lend a reddish-purple color to urine.
The full name of the gene associated with Porphyria is PORC Crester type [Homo Sapiens], gene ID # 5448.
Heme synthesis takes place in several steps, each of which requires a specific enzyme of which there are 8 in total. The genes that encode these enzymes located in different chromosomes and mutation of these genes can be inherited in either an autosomal dominant or autosomal recessive fasion. Affected idividuals are unable to complete heme synthesis, porphyrin or its precursors, accumulate.
The full name of the gene associated with Porphyria is PORC Crester type [Homo Sapiens], gene ID # 5448.
Heme synthesis takes place in several steps, each of which requires a specific enzyme of which there are 8 in total. The genes that encode these enzymes located in different chromosomes and mutation of these genes can be inherited in either an autosomal dominant or autosomal recessive fasion. Affected idividuals are unable to complete heme synthesis, porphyrin or its precursors, accumulate.
Maple Syrup Urine Disease (MSUD) is an inherited disorder. This disease affects the metabolism of certain amino acids. Because they cannot be fully broken down, they accumulate in the urine. In severe form this disease can cause brain damage and leads to death.
Its gene name is BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide and the gene ID number is 593.
This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutataions in this gene result in maple syrup unrine disease.
Its gene name is BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide and the gene ID number is 593.
This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutataions in this gene result in maple syrup unrine disease.
Pancreatic Cancer
The job of the pancreas is to produce insulin which is a hormone, it also produces other substances. It also has a big part in the digestion of proteins. Cancer of the pancreas makes it not function properly, enabling it to produce sufficent amounts of the substances and hormone.
The full name of the gene associated with pancreatic cancer is Smad family member 4. The gene ID is 4089.
The gene encodes a member of the Smad Family which signals transduction proteins. Mutations or deletions in this gene have been shown to result in pancreatic cancer.
The full name of the gene associated with pancreatic cancer is Smad family member 4. The gene ID is 4089.
The gene encodes a member of the Smad Family which signals transduction proteins. Mutations or deletions in this gene have been shown to result in pancreatic cancer.
Cystic Fibrosis
1. Cystic Fibrosis causes the body to produce a thick, sticky mucus that clogs the lungs and leads to infection, and blocks the pancreas from doing what it needs to. This process stops digestive enzymes from reaching the intestines where they are required to digest food.
2. The full name of Cystic Fibrosis is: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) and the Gene ID is 1080.
3. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways.
2. The full name of Cystic Fibrosis is: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) and the Gene ID is 1080.
3. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways.
Sunday, February 21, 2010
Obesity Disease
- Obesity is an excess of body fat; doctors generally agree that men with more than 25% body fat and women with more than 30% are obese. Obesity is a known risk factor for chronic diseases including heart disease, diabetes, high blood pressure, stroke and some forms of cancer.
- Gene Name: Leptin, GeneID: 3952, also known as OB; OBS; FLJ94114; LEP
- This gene encodes a protein that is secreted by white adipocytes, and which plays a major role is the regulation of body weight. This protein, which acts through the leptin receptor, functions as part of a signaling pathway that can inhibit food intake and/or regulate energy expenditure to maintain constancy of the adipose mass.
Friday, February 19, 2010
Gaucher's Disease
Gaucher's disease is a hereditary deficiency of an enzyme called glucocerebrosidase, - an enzyme needed by the body to break down a certain type of fatty substance in our body. Once the enzyme becomes inactive, the fat accumulates mostly in the spleen, liver, and bone marrow which can lead to fatigue, liver malfunction, skeletal disorders, or even death.
Its gene name is GBA and GeneID:2629
Glucocerebrosidase normal function in the body is to be able to break down a type of fat called glucocerebroside.
Its gene name is GBA and GeneID:2629
Glucocerebrosidase normal function in the body is to be able to break down a type of fat called glucocerebroside.
Thursday, February 18, 2010
Tangier Disease
Tangier Disease or TD is a genetic disorder of cholesterol transport. Tangier disease is named after the island of Tangier located off the coast of Virginia. TD was first discovered on a five year old who was an inhabitant of the Tangier island. The five year old had orange tonsils and very low levels of HDL, and an enlarged liver and spleen. TD is caused by mutations in the ABC1 (ATP-binding cassette) gene on chromosome 9q31. People diagnosed with TD are not able to eliminate cholesterol from cells, which then causes the cholesterol to buildup in the tonsils and other organs.
The gene name for Tangier Disease is ABCA1 and the gene ID is 19.
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes.
The gene name for Tangier Disease is ABCA1 and the gene ID is 19.
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes.
Wednesday, February 17, 2010
Glucose Galactose Malabsorptions
1.Glucose Galactose Malabsorptions is a rare metabolic disease. This disease is associated with nonfunctioning or malfunctioning of SGLT1 gene which causes accumulation of glucose and galactose in the intestinal lumen which leads to diarrhea and possible death if diete is not changed.
2. Gene's name: SGLT1, Gene ID: 723986
3.SGLT1 gene is located on chromosome 22 and its function is to move glucose and the galactose, the products of lactose, from the lumen of the small intestine into intestinal cells.
2. Gene's name: SGLT1, Gene ID: 723986
3.SGLT1 gene is located on chromosome 22 and its function is to move glucose and the galactose, the products of lactose, from the lumen of the small intestine into intestinal cells.
Tuesday, February 16, 2010
Zellweger syndrome
Zellweger is a genetic hereditory disease affecting infants. Some of the signs are enlarged liver, high iron level in blood, affected vision, among others. Infants with Zellweger are said to have poor muscle tone, sometimes to the point of immobility.
There are at least 12 genes that are said to individually beresponsible for Zellweger syndrome. One of them is the homosapien peroxisomal biogenesis factor (PEX1) on chromosome 7. Its Gene ID is 5189.
The responsible genes code for the assembly for peroxisomes. The mutation in the genes results the absence of the peroxisomes. PEX1 gene encodes for a member of the AAA ATPase family that's associated with various cellular functions. The encoded protein belongs in the cytoplasm, but is often anchored to the peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisomal biogenesis.
There are at least 12 genes that are said to individually beresponsible for Zellweger syndrome. One of them is the homosapien peroxisomal biogenesis factor (PEX1) on chromosome 7. Its Gene ID is 5189.
The responsible genes code for the assembly for peroxisomes. The mutation in the genes results the absence of the peroxisomes. PEX1 gene encodes for a member of the AAA ATPase family that's associated with various cellular functions. The encoded protein belongs in the cytoplasm, but is often anchored to the peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisomal biogenesis.
Monday, February 15, 2010
Wilson's Disease: Bio 440 (Ken Kubo)
Wilson disease occurs when your body retains copper. Wilson disease is a rare and inherited disorder. Our liver would normally release any copper that it does not need into bile. When a person has Wilson disease this does not happen. Copper will build up in your liver and injures liver tissue. The damage causes your liver to release the copper directly into your bloodstream. Then the blood carries copper all over your body. Too much copper can damage your kidneys, liver, brain and eyes.
The gene for Wilson's disease (ATP7B) is mapped to chromosome 13. The GeneID is 540.
The gene is associated with the P-type cation transport ATPase family and encodes a protein with membrane-spanning domains. The protein works by exporting copper out of the cells.
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