نتایج جستجو برای: hereditary non
تعداد نتایج: 1390343 فیلتر نتایج به سال:
Introduction Fibrous dysplasia (FD) of the clivus, first described by Lichtenstein in 1938, is a very rare developmental, non-hereditary disorder caused by abnormal proliferation and maturation of fibroblasts resulting in replacement of mature bone by weak and immature bone.
BACKGROUND Amyloidosis is a heterogeneous disease caused by deposition of amyloid fibrils in organs and thereby interfering with physiological functions. Hardly any incidence data are available and most survival data are limited to specialist clinics. METHODS Amyloidosis patients were identified from the Swedish Hospital Discharge and Outpatients Registers from years 2001 through 2008. RESU...
Acquired prosopagnosia (PA) is a rare condition after, for example, a stroke or brain injury. The congenital form of PA is generally considered to be even less common. Beside a few single case reports and anecdotal mentioning of familial cases no data on the epidemiology exists. Following a questionnaire-based screening in local secondary schools and at our medical faculty, candidates suspiciou...
Hereditary non-polyposis colorectal cancer (HNPCC) is the commonest form of inherited colorectal cancer (CRC) predisposition and by definition describes families which conform to the Amsterdam Criteria or reiterations thereof. In ~50% of patients adhering to the Amsterdam criteria germline variants are identified in one of four DNA Mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. Loss of ...
OBJECTIVE To compare familial inflammatory inclusion body myositis (IBM) with hereditary inclusion body myopathies and sporadic IBM. PATIENTS AND METHODS Clinical, biological, MRI, and histological data were analysed in two siblings with inflammatory IBM and compared with those of patients with sporadic and hereditary IBM. RESULTS Both patients had a clinical phenotype of sporadic IBM, whic...
Introduction: Hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. Most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (NSHL). Mutations in GJB2 gene are major cause of inherited deafness in the European an...
Recently, Chakrabarty et al. [5] initiated a systematic study of capacitated set cover problems, and considered the question of how their approximability relates to that of the uncapacitated problem on the same underlying set system. Here, we investigate this connection further and give several results, both positive and negative. In particular, we show that if the underlying set system satisfi...
In this work we introduce, characterize, and provide algorithmic results for (k, +)–distance-hereditary graphs, k ≥ 0. These graphs can be used to model interconnection networks with desirable connectivity properties; a network modeled as a (k, +)–distance-hereditary graph can be characterized as follows: if some nodes have failed, as long as two nodes remain connected, the distance between the...
A 52-year-old male, who noticed a sudden onset of general fatigue and appetite loss, visited our hospital. No other family member had a history of renal disease. He had been diagnosed with alcoholic hepatopathy 10 years before. His blood pressure was 112/72 mmHg. His right kidney was felt during palpation at the upper right abdominal area. Laboratory findings showed elevated levels of liver enz...
3 " There is nothing, Sir, too little for so little a creature as man. It is by studying little things that we attain the great art of having as little misery and as much happiness as possible. "
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