نتایج جستجو برای: sporadic
تعداد نتایج: 21803 فیلتر نتایج به سال:
BACKGROUND Patients with hereditary non-poliposys colorectal cancer (HNPCC) have better prognosis than sporadic colorectal cancer (CRC). Aim of our retrospective study was to compare the overall survival between sporadic CRC and HNPCC patients. METHODS We analyzed a cohort of 40 (25 males and 15 females) HNPCC cases with a hospital consecutive series of 573 (312 males and 261 females) sporadi...
BACKGROUND Germline mutations in BRCA1 and BRCA2 are responsible for 5%-10% of epithelial ovarian cancers, but the molecular pathways affected by these mutations are unknown. We used complementary DNA (cDNA) microarrays to compare gene expression patterns in ovarian cancers associated with BRCA1 or BRCA2 mutations with gene expression patterns in sporadic epithelial ovarian cancers and to ident...
OBJECTIVE Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and sporadic late cortical cerebellar atrophy. Recently, an autosomal-dominant spinocerebellar ataxia (SCA) mutation was identified in a cohort of patients with non-MSA-C sporadic cerebellar ...
PURPOSE Gluten sensitivity (GS) is related to the pathogenesis of sporadic or hereditary ataxia. METHODS Total of 194 healthy controls and patients with either hereditary ataxia (n=207) or sporadic ataxia (n=361) were tested for the circulating gluten-related autoantibodies which serve as biomarkers to interpret the existence of GS. RESULTS The incidences of GS in each population were 1% in...
Adenomatous polyposis coli (APC) gene mutations occur in most sporadic colonic adenomas and carcinomas. Precursor lesions of ulcerative colitis (UC)-associated colon carcinomas, although morphologically similar to sporadic adenomas, may be biologically distinct from them and are, in fact, managed differently. Since sporadic adenomas may also occur in UC, a method of discriminating between these...
background: despite the genetic heterogeneity reported in familial als (fals), sod1 gene mutations are the most frequent cause of fals, accounting for around 20% of familial cases (als1) and isolated sporadic cases. mutant forms of sod1 exhibit toxicity that promotes the death of motor neurons. it is well documented that fals produces protein aggregates in the motor neurons of fals patients, wh...
BACKGROUND Recently, mutations in several genes have been described to be associated with sporadic ASD, but some genetic variants remain to be identified. The aim of this study was to use whole-exome sequencing (WES) combined with bioinformatics analysis to identify novel genetic variants in cases of sporadic congenital ASD, followed by validation by Sanger sequencing. MATERIAL AND METHODS Five...
Pemphigus foliaceus (PF) is an autoimmune blistering disease presenting in endemic and sporadic forms. The typical presentation is recurrent shallow erosions in a seborrheic distribution. PF has also been found in association with autoimmune diseases such as autoimmune thyroid disease (e.g. toxic nodular goiter and Hashimoto’s thyroiditis). In some patients, PF appears to be triggered by radioi...
Thyroid cancer is a malignancy of the thyroid parenchymal cells. There are four main types of thyroid cancer: papillary thyroid cancer (PTC), follicular thyroid cancer (FTC), anaplastic thyroid carcinoma (ATC), and Medullary thyroid carcinoma (MTC). Medullary thyroid cancer (MTC) is a rare neuroendocrine tumor of the thyroid gland derived from parafollicular C-cells that produce calcitonin (CT...
brown-vialetto-van laere syndrome (bvvls) is a rare neurological disorder of unknown etiology considered to be a form of motor neuron diseases. this syndrome is characterized by bilateral deafness and involvement of lower cranial nerves, especially 7th-12th. umn signs are less frequent. until 2007, only fifty eight cases were reported. half of the reported cases were sporadic. in the remaining ...
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