A CLINICAL GENETIC STUDY OF FAMILIAL DUPUYTREN S DISEASE IN THE NETHERLANDS

In Egypt, Wilson disease seems to be under diagnosed and clinical data on large cohorts are limited. The aim of this study is to highlight the clinical, laboratory and genetic characteristics of this disease in our pediatric population as well as to report our experience with both treatment options[r]

Presymptomatic testing
Genetic testing in some late onset autosomal dominant disorders can be used to predict the future health of a well individual, sometimes many decades in advance of onset of symptoms. For some conditions, such as Hunting[r]

understanding of the molecular mechanisms underlying variability in drug actions. Thus, the effects of disease, drug coadministration, or familial factors in modulating drug action can now be reinterpreted as variability <[r]

The pathogenesis of multiple myeloma involves complex genetic and epigenetic events. This study aimed to investigate the role and clinical relevance of the long non-coding RNA (lncRNA), metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) in multiple myeloma.

To investigate the alterations in plasma concentration of dopamine in patients with Parkinson’s disease. Subjects and methods: Changes in plasma concentration of dopamine were analyzed to find its correlations and clinical features in 45 patients with Parkinson’s disease (PD group) and 40 healthy pe[r]

Glycogen storage disease type Ia (GSD Ia), a rare autosomal inherited disorder, is characterized by accumulation of excessive glycogen and fat in the liver. Primary symptoms of GSD Ia include hypoglycemia; metabolic acidosis; elevated levels of lactate, uric acid and lipids; hepatomagaly and growth[r]

In this study, we focus on optimizing the configurations of the full-sized structure metamaterials by using a genetic algorithm and compare the result’s absorption spectrum to those obtained by two previous methods in Ref.

In Kawasaki disease (KD), a vasculitis of unknown etiology, the most serious complication is the development of coronary artery aneurysm (CAA). To date, the exact pathomechanism of KD is unknown. Both environmental and genetic factors seem to be associated with the development of the disease.

Ancestral wheat relatives are important sources of genetic diversity for the introduction of novel traits for the improvement of modern bread wheat. In this study the aim was to assess the susceptibility of 34 accessions of the diploid wheat Triticum monococcum (A genome) to Gaeumannomyces graminis[r]

Conclusions In the present study, we found that the frequency of BRCA1andBRCA2mutations was 23.3 % in our cohort of 133 Chinese women with familial breast/ovarian cancer, and the frequen[r]

Angiogenesis plays an essential role in tumor growth and metastasis, and is a major target in cancer therapy. VEGFR and PDGFR are key players involved in this process. The purpose of this study was to assess the incidence of genetic variants in these receptors and its potential clinical implications[r]

Prostate cancer is one of the leading causes of cancer death amongst men in economically advanced countries. The disease is characterized by a greatly varying clinical course, where some patients harbor non- or slowly-progressive disease, others highly aggressive disease.

High-grade salivary gland cancer is a distinct clinical entity that has aggressive disease progression and early systemic spread. However, because of the rarity of the disease, the clinical outcomes, prognostic factors and clinical decision on the optimal treatments have not been fully understood.

In a clinical study of 40 cases, including those with severe autism, acupuncture group using JIN's 3-needling technique presented significant better results than that of the behavior int[r]

D.T. Quynh et al. / VNU Journal of Science: Medical and Pharmaceutical Sciences, Vol. 35, No. 1 (2019) 128-136
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tại Iran (2018), trên cùng đối tượng là nhân viên văn phòng cho kết quả tương đồng với nghiên cứu của chúng tôi với tỷ lệ 90,5% có nguy cơ thấp [19]. Sự tích cực[r]

In the present study, RAPD markers were employed to study the genetic diversity, a RAPD profile of 64 rice bean genotypes generated 83 bands, of which 47 were polymorphic 56.62% of polym[r]

Coxsackievirus A6 (CVA6) is one of the major agents to cause hand, foot and mouth disease (HFMD) outbreaks globally. The objective of this study is to investigate the epidemiologic and clinical manifestations of CVA6 outbreak, and thus guide the diagnosis and treatment of the disease, as well as dis[r]

Breast cancer is a heterogeneous disease with a highly variable clinical outcome in which both genetic and epigenetic changes have critical roles. We investigated tumor expression levels of histone-modifying enzymes LSD1, HDAC2 and SIRT1 in relation with patient survival and tumor relapse in a retro[r]

Hirschsprung’s disease (HSCR) is a congenital defect caused by impaired development of the enteric nervous system. Inflammatory bowel disease has an increased prevalence in patients with HSCR. We describe the clinical course of a patient with long-segment HSCR who, at the age of 12 months, developed[r]

The phenotypic and genetic heterogeneity of autism spectrum disorder (ASD) presents considerable challenges in understanding etiological pathways, selecting effective therapies, providing genetic counselling, and predicting clinical outcomes.