[Investigation of connexin 26 mutations and three large deletions spanning connexin 30 in 63 Iranian families with autosomal recessive non-syndromic hearing loss]

Hearing loss is the most frequent neurosensory defect in human. Mutations in GJB2 and GJB6 are responsible for 50% of autosomal recessive non-syndromic hearing loss [ARNSHL] cases. Here we report on the frequencies of GJB2 and GJB6 mutations and three large deletions spanning the GJB6 gene including Del [GJB6-D13S1830], Del [GJB6-D13S1854] and a>920 kb deletion in patients affected by ARNSHL referred to Kawsar's Human Genetics Research Center. In this study, 94 patients from 63 families with ARNSHL were investigated. Patient's homozygote for 35delG were screened and left out of the study and the remaining samples were analyzed by sequencing of GJB2 and GJB6 genes. Also the three large deletions spanning the GJB6 gene were analyzed by Real Time PCR In this study we found GJB2 mutations in 13 families [20.6%] out of 63.The 35delG mutation was the most common mutation in the studied population [61.5%]. Other GJB2 mutations were delE120, R127H, W24X, and V37I. The heterozygous or negative cases for the GJB2 mutations were screened for mutation in the GJB6 gene by sequencing and no mutation was observed. Also, we checked the three large deletions in GJB6, we found no mutations. Low frequency of mutations in the GJB2 gene implies that other genes may be involved in causing non-syndromic hearing loss in our country

Comparing clinical and laboratory findings of infective endocarditis among intravenous drug users and non-drug users

Infective endocarditis [IE] is a serious complication of intravenous [IV] drug use. During the recent decades, its incidence has been increased. The present study was designed to compare the clinical and laboratory findings of IE among IV drug users and non-drug users. Totally, 40 IV drug users and 40 non-drug users were included and their medical files reviewed. Initial data including age, sex, fever, heart murmur, systemic emboli, cough, hemoptysis, pleuretic chest pain, abscess, and the possible organism were gathered by a questionnaire. IV drug users were younger and showed a male predominance. When compared with non-drug users, right-sided IE, abscess, and history of previous antibiotic therapy before admission were more commonly found among IV drug users. Staphylococci were the most prevalent causative organism among IV drug users, while among non-drug users, streptococci were the most common agents. Heart murmur was detected more frequently among non-drug users. Infective endocarditis among IV drug users is a serious entity produced mainly by S. aureus, and affects preferentially the right-side cavity. Our results emphasized on the importance of clinical characteristics of IE among IV drug users

Surveying necrotizing fasciitis in a teaching hospital in Tehran, 1999-2003

Necrotizing fasciitis is an uncommon severe infection involving the subcutaneous soft tissue, particularly the superficial and often the deep fascia. Early diagnosis is of utmost importance since the disease progress rapidly. The present study was conducted to determine clinical, laboratory and therapeutic aspects of necrotizing fasciitis in a group of Iranian patients referred to a referral center in Tehran between 1999 and 2003. For this descriptive study, all patients with the diagnosis of necrotizing fasciitis referred to Imam Khomeini hospital during a 4-year period [1999-2003] were enrolled. The diagnosis of necrotizing fasciitis was verified according to the clinical, radiologic, and direct inspection of a surgeon. Totally, 34 patients referred during the studied period with the mean age of 43.7 +/- 28.3 years and male to female ratio of 19:15. Tachycardia [41.2%] and tachypenia [44.1%] were the most common presenting signs. Lower limb was the most frequent site of involvement [70.5%]. Totally, 64 operations were performed [2.14 operation/ patient]. Necrotizing fasciitis should be ruled out in any patient presented with pain, flu-like symptoms, swelling, blisters, and necrotizing appearance skin, especially if it is associated with diabetes mellitus, injecting drug abuse or recent trauma. Prompt diagnosis, suitable antibiotic use, and extensive operation could significantly reduce mortality