نتایج جستجو برای: ژن pah
تعداد نتایج: 23292 فیلتر نتایج به سال:
objective(s):phenylketonuria (pku) is a genetic inborn error of phenylalanine (phe) metabolism resulting from insufficiency in the hepatic enzyme, phenylalanine hydroxylase (pah), which leads to elevated levels of phe in the blood. the present study was carried out for mutation analysis of the pah gene in west azerbaijan province of iran. materials and methods:a total of 218 alleles from 40 pku...
We investigated the serum haptoglobin levels in patients with pulmonary arterial hypertension (PAH) based on the hypothesis that haptoglobin levels would reflect subclinical hemolysis due to microangiopathy in pulmonary arterioles.This cross-sectional study included 3 groups of patients attending Hokkaido University Hospital: PAH, chronic thromboembolic pulmonary hypertension (CTEPH), and conne...
BACKGROUND Treatment of many inherited liver enzyme deficiencies requires the removal of toxic intermediate metabolites from the blood of affected individuals. We propose that circulating toxins can be adequately cleared and disease phenotype influenced by enzyme expressed in tissues other than the liver, such as bone marrow. Our specific hypothesis was that phenylalanine hydroxylase (PAH) expr...
Patients with connective tissue disease-associated pulmonary arterial hypertension (PAH-CTD) have a poor prognosis compared with other aetiologies. The underlying CTD can influence treatment response and outcomes. We characterised the GRIPHON study PAH-CTD subgroup and evaluated response to selexipag.Of 334 patients with PAH-CTD, PAH was associated with systemic sclerosis (PAH-SSc) in 170, syst...
PAH های سرطانزا به طرق مختلف به دست انسان و یا طبیعت وارد محیط زیست می شوند .این مواد در غذا، هوا ، آب و خاک موجود می باشند . در فعالیت روزانه انسانها، به نظر می رسد که غذا و هوا، اصلیترین منابع PAH های سرطانزا باشند . جمعاً دز پتانسیل انسانها بین 1 تا 15 µg/day می باشد برای افرادی که یک یا چند پاکت سیگار بدون فیلتر در روز مصرف می کنند ،این دز بین 15-2 µg/day متغیر است .این تخمینهای دز پتانسل م...
Background and Objectives: This study was performed to determine and identify the origin, concentration and source of perylene entry and some PAH compounds in surface sediments of Ghalam Goodeh (A), Siyah Kashim (B), and Talab Markazi (C) in Anzali wetland. Materials and methods: We collected 22 samples of sediments (from each region) and 2 samples of soils (from A region) in April of 2012. Sam...
BACKGROUND Pulmonary arterial hypertension (PAH) is a hyperproliferative vascular disorder observed predominantly in women. Estrogen is a potent mitogen in human pulmonary artery smooth muscle cells and contributes to PAH in vivo; however, the mechanisms attributed to this causation remain obscure. Curiously, heightened expression of the estrogen-metabolizing enzyme cytochrome P450 1B1 (CYP1B1)...
The age at diagnosis of pulmonary arterial hypertension (PAH) and the prevalence of cardiovascular (CV) risk factors are increasing. We sought to determine whether the response to drug therapy was influenced by CV risk factors in PAH patients. We studied consecutive incident PAH patients (n = 146) between January 1, 2008, and July 15, 2011. Patients were divided into two groups: the PAH-No CV g...
BACKGROUND Pulmonary arterial hypertension (PAH) is a frequent cause of morbidity and mortality in patients with systemic sclerosis (SSc). PAH is generally considered to be a late complication of limited cutaneous SSc. This study identified and investigated a subset of SSc patients with early-onset PAH. METHODS Clinical and hemodynamic data at the time of diagnosis were collected retrospectiv...
To date, studies about historic PAH (polycyclic aromatic hydrocarbons) deposition at a regional scale have rarely been published. To address this research gap, we sampled 17 ombrotrophic peatlands across eastern Canada. The peat cores from hollows were dated with 210Pb for the period of about 1850-2000 and analyzed fortheir PAH concentration, so PAH deposition could be reconstructed. Peat sampl...
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