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1.
Egyptian Journal of Medical Human Genetics [The]. 2010; 11 (1): 59-68
in English | IMEMR | ID: emr-145889

ABSTRACT

Familial Mediterranean fever [FMF] which is an autosomal recessive condition that primarily affect population of the Mediterranean basin. If undiagnosed effectively and treated with coichicine for life it may lead to serious consequences in terms of renal amyloidosis and renal failure. We aim to check for the presence of FMF mutations in clinically suspected Egyptian patients, as an important step for family counseling and case management. The study is a pilot study to check for the presence of FMF mutations among suspected cases [24 cases] from Sharkia Govemorate. The control subjects [24] were selected from healthy volunteers. We examined FMF mutations by PCR technique for MEFV gene analysis in order to establish a diagnosis of FMF by examining two mutations, M694V and E148Q. We found 58.3%[14/24 cases] of cohort were positive for M694V mutation, and all cohort were negative for E148Q mutation. The normal controls were negative for previous two mutations. PCR technique provides a rapid, reliable, cost-effective, noninvasive, and sensitive test for establishing a diagnosis of FMF in symptomatic patients and also provides a rational basis for medical and genetic counseling of FMF patients and their families


Subject(s)
Humans , Male , Female , Mutation , Polymerase Chain Reaction/methods , Colchicine/adverse effects , Amyloidosis
2.
Journal of the Egyptian Society of Parasitology. 2005; 35 (3): 953-962
in English | IMEMR | ID: emr-72383

ABSTRACT

Water samples were collected form five residential areas in El Ekhewa Village where the human populations use this water for daily activity and for consumption. These water sources were Bahr El-Baker drain, low running irrigation canal, under-ground water at shallow depth [3-8 m], finished piped water and underground water > 35m deep. The samples were concentrated by flocculation method and the concentrated pellets were examined by ultraviolet [UV] epifluorescence microscopy for Cvclospora oocysts. The densities of water contamination by 8-10 pm oocysts /liter in the five sources were respectively: 2400, 1900, 700, 200 and zero. This indicated that finished water was sewage contaminated. Stool samples from 109 diarrheal patients and 231 non-diarrheal ones from these areas were examined by the acid fast-trichrome stain, Saline Haemo De single slide tri-chrome stain and by standard bacteriologic techniques. Those with Cyclospora s single pathogen were considered [5.6%] of diarrheal and [2.3%] of the non-diarrheal individuals. The correlation between the density of water contamination and the prevalence of cyclosponiasis among the individuals of each area was significant. No doubt, water was the main vehicle of transmission in the present community. Soil contact and poultry were significant risk factors


Subject(s)
Humans , Water Supply , Feces/microbiology , Urban Population , Water Pollution
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