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Afagh Alavi Shahriar Nafissi Mohammad Rohani Babak Zamani Behnaz Sedighi Hosein Shamshiri Jian-Bing Fan Mostafa Ronaghi Elahe Elahi 《Neurobiology of aging》2013,34(5):1516.e1-1516.e8
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease, and the most common in European populations. Results of genetic analysis and mutation screening of SOD1 in a cohort of 60 Iranian ALS patients are here reported. Initially, linkage analysis in 4 families identified a disease-linked locus that included the known ALS gene, SOD1. Screening of SOD1 identified homozygous p.Asp90Ala causing mutations in all the linked families. Haplotype analysis suggests that the p.Asp90Ala alleles in the Iranian patients might share a common founder with the renowned Scandinavian recessive p.Asp90Ala allele. Subsequent screening in all the patients resulted in identification of 3 other mutations in SOD1, including p.Leu84Phe in the homozygous state. Phenotypic features of the mutation-bearing patients are presented. SOD1 mutations were found in 11.7% of the cohort, 38.5% of the familial ALS probands, and 4.25% of the sporadic ALS cases. SOD1 mutations contribute significantly to ALS among Iranians. 相似文献
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Groohi B Alaghehbandan R Lari AR 《Burns : journal of the International Society for Burn Injuries》2002,28(6):569-574
Burn injuries still produce a significant morbidity and mortality in Iran. This study was carried out to analyze the epidemiology, mortality, and current etiological factors of 1089 burn patients in the province of Kurdistan in the west of Iran during the 6 years from 21 March 1994 to 20 March 2000. There were two burn centers in Kurdistan, serving 1.4 million people in an area of 28,000 km(2). The incidence rate of burn hospitalization was 13.5 per 100,000 person-years. The median age was 18 years with 58% of the patients under 20 years. The median Body Surface Area (BSA) burned was 40%. Incidence rate of burns for females was 18 per 100,000 person-years and 9.1 per 100,000 person-years for males (P((2))<0.000001). Also there was a statistically significant association between mortality rate and age groups/gender/BBS (P((2))<0.000001). Flame was the most common type of burn (694/1089, 63.7%). There was also a significant correlation between the age groups and types of burn (P((2))<0.000001). Ninety-one percent (991/1089) of the burns were unintentional (12.3 per 100,000 person-years), while suicide attempts by burning for the population aged 13 and older accounted for 12.7% (98/771) (2 per 100,000 person-years). The mortality rate was 4.5 per 100,000 person-years. The study results provide a valuable baseline by which to assess future efforts directed toward the prevention of burn injuries in Kurdistan. 相似文献
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Marzieh Fattahi Dolat Abadi Sedigheh Mehrabian Babak Asghari Amirmorteza Ebrahimzadeh Namvar Fatemeh Ezzatifar Abdolaziz Rastegar Lari 《GMS Krankenhaushygiene interdisziplin?r》2013,8(1)
We developed an effective and non-irritant mouthwash that is alcohol-free and has a low concentration of silver nanoparticles (SNP) in order to be used for preventing oral cavity infections in immunocompromised oncologic patients. We studied antimicrobial effects of silver nanoparticles (SNP) in the range of (50–0.024 µg/ml) and 3% of ethanol (30,000 µg/ml) in mouthwash. Antimicrobial effects of two treatments were studied by doing challenge test on microorganisms such as Streptococcus mutans, Staphylococcus aureus, Escherichia coli, Pseudomonas aeruginosa, Candida albicans and measuring MIC and MBC (MFC) values of SNP toward mentioned microorganisms. These values of SNP respectively were in the range of (0.78–3.12) and (1.56–12.5 µg/ml). Results showed that SNP in the MIC and the lower concentrations killed all of the used microorganisms. No difference was observed between the antimicrobial effect of ethanol-free mouthwash containing SNP and mouthwash containing SNP and ethanol (30,000 µg/ml). SNP has high antimicrobial effects at low concentrations and it can be a good alternative for ethanol (30,000 µg/ml) because ethanol is also irritating, especially to sensitive or inflamed mucosa. 相似文献
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Alavi A Shahshahani MM Klotzle B Fan JB Ronaghi M Elahi E 《The Journal of dermatology》2012,39(4):375-381
Ichthyosis is a heterogeneous disorder characterized by abnormal skin scaling over the whole body. Autosomal recessive congenital ichthyosis (ARCI) comprises various forms, the most important of which are lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). Seven genes have been identified to be causative of ARCI, and these account for disease in 60-80% of the patients. There is notable phenotypic overlap between the major forms of ARCI, and a strong genotype-phenotype correlation has not been found. Here, we initially aimed to identify the causative gene in a large Iranian ARCI pedigree, and subsequently performed genetic analysis on four other affected pedigrees. A genotype-phenotype correlation was sought. Whole genome homozygosity mapping using high-density single nucleotide polymorphism chips was performed on the large pedigree. Linkage to chromosome 5 and a mutation in NIPAL4 causing p.G297R were identified. The same mutation was also identified in two of the remaining four Iranian pedigrees. Two of the NIPAL4 mutation bearing pedigrees were classified as CIE and one as LI. Notably, all NIPAL4 mutation-bearing patients manifested diffuse yellowish keratoderma on the palms and soles. We provide evidence suggesting presentation of this diffuse yellowish keratoderma may be indicative of mutations in NIPAL4, providing an easily assessable genotype-phenotype correlation. 相似文献
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Haji-Seyed-Javadi R Jelodari-Mamaghani S Paylakhi SH Yazdani S Nilforushan N Fan JB Klotzle B Mahmoudi MJ Ebrahimian MJ Chelich N Taghiabadi E Kamyab K Boileau C Paisan-Ruiz C Ronaghi M Elahi E 《Human mutation》2012,33(8):1182-1187
Latent transforming growth factor (TGF) beta-binding protein 2 (LTBP2) is an extracellular matrix (ECM) protein that associates with fibrillin-1 containing microfibrils. Various factors prompted considering LTBP2 in the etiology of isolated ectopia lentis and associated conditions such as Weill-Marchesani syndrome (WMS) and Marfan syndrome (MFS). LTBP2 was screened in 30 unrelated Iranian patients. Mutations were found only in one WMS proband and one MFS proband. Homozygous c.3529G>A (p.Val1177Met) was shown to cause autosomal recessive WMS or WM-like syndrome by several approaches, including homozygosity mapping. Light, fluorescent, and electron microscopy evidenced disruptions of the microfibrillar network in the ECM of the proband's skin. In conjunction with recent findings regarding other ECM proteins, the results presented strongly support the contention that anomalies in WMS patients are due to disruptions in the ECM. Heterozygous c.1642C >T (p.Arg548*) possibly contributed to MFS-related phenotypes, including ocular manifestations, mitral valve prolapse, and pectus excavatum, but was not cause of MFS. 相似文献
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Hearing loss, caused by irreversible loss of cochlear sensory hair cells, affects millions of patients worldwide. In this concise review, we examine the conundrum of inner ear stem cells, which obviously are present in the inner ear sensory epithelia of nonmammalian vertebrates, giving these ears the ability to functionally recover even from repetitive ototoxic insults. Despite the inability of the mammalian inner ear to regenerate lost hair cells, there is evidence for cells with regenerative capacity because stem cells can be isolated from vestibular sensory epithelia and from the neonatal cochlea. Challenges and recent progress toward identification of the intrinsic and extrinsic signaling pathways that could be used to re-establish stemness in the mammalian organ of Corti are discussed. 相似文献