ABSTRACT
SLC26A4 gene mutations after GJB2 mutations are the second currently identifiable genetic cause of autosomal recessive non syndromic hearing loss [ARNSHL] which currently is used in molecular diagnosis of ARNSHL. Several potential STR markers related to this region have been reported .This study was carried out to identity the informativeness of D7S2456 CA repeat STR marker in SLC26A4 gene region in five ethnic groups of the Iranian population. In this descriptive study, The locus was genotyped in 165 unrelated healthy individuals of five different ethnics including Fars, Azari, Turkmen, Gilaki and Arabs ethnic groups using polymerase chain reaction [PCR] followed by polyacrylamide gel electrophoresis [PAGE] and fluorescent capillary electrophoresis. Data was analyzed by Gene Marker HID Human STR Identity software, Gene Pop program and Microsatellite Tools software. Analysis of the allelic frequency revealed the presence of 9 alleles for D7S2456 marker in the Iranian population, which allele 5 at the D7S2456 locus with 55% frequency was the most frequent. The most frequent heterozygosity with rate of 81.8% belongs to Azari ethnic group. Analysis of deviations from Hardy-Weinberg equilibrium demonstrated that all the ethnics except Fars were in equilibrium for D7S2456 locus. D7S2456 marker is a moderately informative marker in Iranian ethnic population [PIC value within 0.44 and 0.7]. D7S2456 is a moderately informative marker in diagnosis of SLC26A4 based autosomal recessive non syndromic hearing loss in Iranian population by linkage analysis
ABSTRACT
Introduction. Evaluation of patients with aseptic meningitis is a particularly challenging task. The term sub-acute aseptic meningitis refers to patients who have clinical and laboratory evidence of meningeal inflammation with negative routine bacterial cultures for more than one week. Forty two consecutive adults [ages > or = 14] with sub-acute aseptic meningitis [SAAM] and Meningoencephalitis [SAAME] treated in Mashhad medical university hospital, Iran, during years 2002 to 2004 were included in the study. The patients prospectively analyzed with respect to clinical symptomatology, cerebrospinal fluid [CSF] findings, clinical course, treatment and outcome. 54.8% of patients were female and 45.2% were male. Headache [95.2%] and fever [71.4%], nausea and vomiting [85.7] and altered mental status [26.2] were the presenting symptoms in the majority of cases. CSF findings at the first lumbar tap on admission generally revealed lymphocytic pleocytosis of less than 1000 cells per micro 1, mild to moderately elevated protein and hypoglycorrhachia. Initial antimicrobial therapy was achieved in 15 of cases, and consisted of empirical anti-tuberculosis, Ceftriaxon and Ampicillin in 23.8%, 7.1% and 4.8% respectively. Eighteen of the 42 SAAM and SAAME cases [42.9%] were caused by tuberculosis [TB], seven by Brucellosis [16.6%], three due to partially treated bacterial meningitis [7.1%], one due to carsinomatos Meningitis [2.4%], and in 13 patients [30.9%] the etiology remained unknown. Two of the patients with different type of meningitis [one Tuberculous and one carcinomatous] were died [4.7%]. The outcome was good in the majority of cases. In our country tuberculosis is an important cause of chronic or sub-acute meningitis; hence, abnormal CSF findings compatible with aseptic meningitis and low glucose and high protein should suggest Tuberculosis and specific anti-Tuberculous therapy should be started promptly