نتایج جستجو برای: familial
تعداد نتایج: 56018 فیلتر نتایج به سال:
Familial adenomatous polyposis is characterized by over 100 colorectal adenomas in the colorectum. The disease equally affects both sexes, with an incidence estimated at 1.14025-1.8300. The disease is premature in people with familial adenomatous polyposis. Patients suffering from familial adenomatous polyposis have a range of extra-intestinal diseases such as papillae, gastric, small intestine...
Although common risk alleles for multiple myeloma (MM) were recently identified, their contribution to familial MM is unknown. Analyzing 38 familial cases identified primarily by linking Swedish nationwide registries, we demonstrate an enrichment of common MM risk alleles in familial compared with 1530 sporadic cases (P = 4.8 × 10-2 and 6.0 × 10-2, respectively, for 2 different polygenic risk s...
The aims of this study were to estimate the prevalence of familial cases in patients with Meniere's disease (MD) and to identify clinical differences between sporadic and familial MD. We recruited 1375 patients with definite MD according to the American Academy of Otolaryngology-Head and Neck Surgery criteria, obtaining the familial history of hearing loss or episodic vertigo by direct intervie...
OBJECTIVES To highlight the occurrence of familial cases and addresses, whether familial Kleine-Levine syndrome (KLS) presents the same spectrum of disease, as that seen in sporadic KLS. METHODS Between September and December 2014, reports of familial cases of KLS were identified by searching the Library of Congress, PubMed, and Web of Science databases restricted to the English language, w...
A nationwide epidemiologic survey of familial Graves' disease (GD) was conducted in 2001. "Familial GD" was defined as a patient who had at least one Graves' patient within the proband's first-degree relatives. The primary survey was performed for estimating the prevalence of patients among a random selection of 2367 departments/hospitals of internal medicine, endocrinology, thyroidology and pe...
To evaluate diagnostic and treatment issues in patients with familial Mediterranean fever (FMF) risk factors for AA-amyloidosis.
OBJECTIVE Moyamoya disease (MMD) is an uncommon cerebrovascular disorder, characterized by progressive occlusion at the terminal portion of the internal carotid artery. Incidence of the disease is high in East Asia and familial MMD accounts for about 15% of the disease. Although the pathogenesis is unknown, association of HLA class I or II alleles with MMD has been reported with conflicting res...
The contribution of BRCA1 and BRCA2 to familial and non-familial forms of breast cancer has been difficult to accurately estimate because of the myriad of potential genetic and epigenetic mechanisms that can ultimately influence their expression and involvement in cellular activities. As one of these potential mechanisms, we investigated whether allelic imbalance (AI) of BRCA1 or BRCA2 expressi...
In this article, we summarize the current knowledge of familial influences in anorexia nervosa and bulimia. Three lines of evidence are reviewed: descriptions of family interaction, familial correlates of the course and phenomenology of symptoms, and studies of familial transmission. We conclude that although certain familial patterns are associated with eating disorders, there is no single mec...
BACKGROUND Myeloproliferative neoplasms constitute a group of diverse chronic myeloid malignancies that share pathogenic features such as acquired mutations in the JAK2, TET2, CBL and MPL genes. There are recent reports that a JAK2 gene haplotype (GGCC or 46/1) confers susceptibility to JAK2 mutation-positive myeloproliferative neoplasms. The aim of this study was to examine the role of the JAK...
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