hereditary inclusion body myopathy (hibm) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. this myopathy is autosomal recessive and associated to upd-n-acetylglucosamine-2-epimerase/n-acetylmannosamine kinase (gne) gene mutations. in this study, we report a novel gne homozygous point mutation c.1834t>g that results in amino acid substitution of cysteine 6...

An interval algebra is a Boolean which isomorphic to the of finite unions half-open intervals, linearly ordered set. hereditary if every subalgebra an algebra. We answer question M. Bekkali and S. Todorcevic, by showing that it consistent σ-centered size $$\mathfrak{b}$$ hereditary. also show there is, in ZFC, cardinality ℵ1.

normal 0 false false false en-us x-none ar-sa microsoftinternetexplorer4 colorectal cancer is classified in to three forms: sporadic (70-75%), familial (20-25%) and hereditary (5-10%). hereditary colorectal cancer syndromes classified into two different subtypes: polyposis and non polyposis. familial adenomatous polyposis (fap; omim #175100) is the most common polyposis syndrome, account for <1...

objective: since the identification of the two highly penetrant dominantly inherited genes, brca1/2, in the 1990s, a number of other genes have been identified which account for approximately 25% of the genetic basis for hereditary breast cancer. at least 75% are unidentified. the goal of this study is to investigate the presence or absence of a recessive pattern of inheritance in this heteroge...

normal 0 false false false en-us x-none ar-sa microsoftinternetexplorer4 background : there is a lack of data on familial aggregation of colorectal cancer (crc) in iran. we aimed to determine the frequency of hereditary nonpolyposis colorectal cancer (hnpcc) and familial colorectal cancer (fcc) and to determine the frequency of extracolonic cancers in these families in isfahan. methods : we rev...

background and aims: human t-lymphotropic virus (htlv) is a human retrovirus which has been known to cause adult t-cell leukemia/lymphoma and some other inflammatory disorders. patients with hereditary bleeding diseases are at high risk for these viruses. in this study, we evaluated serological htlv-i/ii infection among these patients in west azerbaijan of iran. material and methods: we studied...

parkinsonism is used to describe a syndrome manifested by any combination of six cardinal features: tremor at rest, rigidity, bradykinesia, loss of postural reflexes, flexed posture and the freezing. decreased dopaminergic neurotransmission in the basal ganglia is the core biochemical pathology in parkinsonism. hereditary parkinsonism includes various heredodegenerative diseases such as hallerv...

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Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia. One the most frequently occurring types of mutation is trinucleotide repeat expansion. The present study was conducted with the aim of investigating the cause...

A population-based, cross-sectional study was performed in southeast Norway, between January 2002 and February 2008, to identify subjects with hereditary ataxia and hereditary spastic paraplegia, and to estimate the prevalence of these disorders. Patients were recruited through colleagues, families, searches in computerized hospital archives and the National Patients' Association for Hereditary...