ABSTRACT
Duchenne muscular dystrophy is an X-linked genetic disorder resulting from mutation or deletion in the Dystrophin gene. The aim of this study was to evaluate the primary diagnosis of affected individuals that have been referred to the genetic lab of the Shafa hospital in Ahvaz. Progressive muscle weakness was present in all the patients. DNA from peripheral blood was extracted from affected patients and subsequent multiplex-PCR was performed to determine putative deletions in the Dystrophin gene. in 53% of cases were deletions identified in exons 44-51 in the Dystrophin gene and therefore the clinical diagnosis could be confirmed. On the other hand, we found no deletion in 47% of cases. it seems that the patients suffering Duchenne muscular Dystrophy in Ahvaz show, independent to their ethnicity, the gene inactivating deletion in the end part of the Dystrophin gene. These results would be used for the differential and for the prenatal diagnosis in the Khuzestan province
ABSTRACT
The study included 40 diarrheic children under 3 years of age [20 acute and 20 chronic cases] and 20 age matched controls. Fecal specimens were collected from each. Isolation and characterization of non spore forming Gram-negative anaerobic rods was carried out by using non selective media [CDC and blood agar] and selective media [KVA and PVA] media, Gram stain, relationship to oxygen, fluorescence and spot tests. Presumptive identification was done by using several biochemical identification systems [presumpto plates, rapid enzyme systems and API 20 A]. Definitive identification was carried out by using gas liquid chromatography and toxin assays on B. fragilis isolates by using tissue culture cell lines [HELF and VERO] and by inoculation [intraperitoneal and intravenous] in 3-week old mice