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1.
Journal of Zanjan University of Medical Sciences and Health Services. 2007; 15 (58): 74-80
em Persa | IMEMR | ID: emr-112601

RESUMO

FMF is an autosomal recessive genetic disorder characterized by acute episodes of fever accompanied by severe abdominal pain, pleurisy, arthritis, and skin rashes. Clinical symptoms of the disease vary considerably in patients, and little is known about the origin of this variation. This study investigates a male patient suffering from severe FMF and his parents. The subject was a six-month-old boy with recurrent fever accompanied by severe abdominal pain and skin rashes. Molecular screening was conducted through polymerase chain reaction [PCR] and sequencing exon10 of MEFV gene. The investigation to indentify common mutations' using ARMS-PCR and exon 10 sequencing revealed an M697/M680I compound heterozygote mutation in exon 10 of the related gene. Patient's father and mother were heterozygote for mutations M680I and M694V, respectively without having the history of FMF attacks. It seems that accompaniment of mutations M680I and M694V even in compound heterozygote form might lead to severe phenotype FMF. This is the first report of early onset and severe phenotype FMF case associated with a 694V/680I compound heterozygote mutation in Iran


Assuntos
Humanos , Masculino , Dor Abdominal , Exantema , Reação em Cadeia da Polimerase , Pleurisia , Artrite , Mutação , Heterozigoto , Triagem de Portadores Genéticos , Genes Recessivos
2.
Journal of Jahrom University of Medical Sciences. 2006; 3 (3): 8-15
em Persa | IMEMR | ID: emr-137741

RESUMO

Considering the main role of digestive system in human health, programs against alimentary infectious diseases is essential. Intestinal parasitic infections are important among infectious diseases in Iran. Since contaminated food is important in transmitting infections to human, we decided to study the intestinal parasitic infections in food handlers in Arak. Food handlers in Arak were categorized into five groups [Sandwich sellers, restaurants, ice-cream sellers, confectionaries and bakeries] in five different geographic areas in Arak. Stool samples were collected from 460 people [three times for each person] and examined for parasitic agents using Formaline-Ether Concentration Method. Using statistical methods, analysis was done to find the role of different variables such as age, education and so on in intestinal parasitic infections. The prevalence of intestinal parasitic infections was 43.7% in food handlers in Arak. Entamoeba coli and Blastocytis hominis were the most prevalent agants. Within pathogen parasites, Giardia lamblia was the most common [6.3]. No significant differences were seen between education and infection [P.value=0.261]. The high prevalence of intestinal parasitic infections in food handlers in Arak indicates the necessity of more consideration on health programs

3.
Iranian Journal of Public Health. 1998; 27 (1-2): 71-80
em Persa | IMEMR | ID: emr-48154

RESUMO

Fifty six episodes of DKA occurred in 33 patients during the period between 1998 -96. These patients were admitted and treated in Bahrami children hospital, a Tehran University teaching medical center. The most frequent clinical manifestations consisted of polyuria and polydipsia [66%], nausea and vomiting [64%], reduction in consciousness [53%], and Kussmaul respiration [53.5%]. 54.6% of DKA episodes showed a pH below 7.1. There was a relationship between the severity of acidosis and the time needed for its correction. Complications during treatment appeared in 47.5% of DKA attacks, hypokalemia [18.8%], hyperkalemia [16%], hypoglycemia [10%] were the most common. No brain edema or death occurred in our patients. The most common precipitating factors of DKA include unavailability of insulin or syringes [39.4%], infections [32%], and unknown causes [28.6%]. The patients were divided in two different groups. The first group experienced 31 episodes of DKA in known patients suffering from diabetes mellitus and receiving insulin treatment. 25 episodes of DKA occurred in the second group with no previous history of diabetes; of interest is the finding that in 75% of recurrent attacks in group 1, the unavailability of insulin or syringes was the precipitating factor. The clinical, laboratory and complications of these two groups of patients were studied and the results obtained were compared with similar studies in other countries


Assuntos
Humanos , Cetoacidose Diabética/complicações , Diabetes Mellitus , Biomarcadores , Fatores Desencadeantes
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