نتایج جستجو برای: ژن pah

تعداد نتایج: 23292  

2016
Samia Ait Faqih Béfa Noto-Kadou-Kaza Lalla Meryam Abouamrane Naoufal Mtiou Selma El Khayat Mohamed Zamd Ghislaine Medkouri Mohamed Gharbi Benghanem Benyounes Ramdani

INTRODUCTION Pulmonary arterial hypertension (PAH), defined as a systolic pulmonary artery pressure above 35 mm Hg, is another vascular disease entity recently described in patients receiving hemodialysis. It is a major problem due to its high prevalence and morbidity and mortality. Its pathophysiological mechanism is just known and the strategies for its supported not yet defined. AIMS To de...

Journal: :The European respiratory journal 2009
L Dewachter S Adnot C Guignabert L Tu E Marcos E Fadel M Humbert P Dartevelle G Simonneau R Naeije S Eddahibi

Mutations in the gene encoding bone morphogenetic protein (BMP) receptor type 2 (BMPR-2) have been reported in pulmonary arterial hypertension (PAH), but their functional relevance remains incompletely understood. BMP receptor expression was evaluated in human lungs and in cultured pulmonary artery smooth muscle cells (PASMCs) isolated from 19 idiopathic PAH patients and nine heritable PAH pati...

Journal: :Journal of the American Society of Nephrology : JASN 2004
Pascal H E Smeets Rémon A M H van Aubel Alfons C Wouterse Jeroen J M W van den Heuvel Frans G M Russel

p-Aminohippurate (PAH) is the classical substrate used in the characterization of organic anion transport in renal proximal tubular cells. Although basolateral transporters for PAH uptake from blood into the cell have been well characterized, there is still little knowledge on the apical urinary efflux transporters. The multidrug resistance protein 2 (MRP2/ABCC2) is localized to the apical memb...

Journal: :Circulation. Cardiovascular interventions 2014
Duan-Zhen Zhang Xian-Yang Zhu Bei Lv Chun-Sheng Cui Xiu-Min Han Xiao-Tang Sheng Qi-Guang Wang Po Zhang

BACKGROUND No method is available to predict whether patients with patent ductus arteriosus (PDA) and severe pulmonary arterial hypertension (PAH) will show persistent postprocedural PAH (PP-PAH) after PDA closure. This study evaluated the usefulness of trial occlusion for predicting PP-PAH after transcatheter PDA closure in patients with severe PAH. METHODS AND RESULTS Trial occlusion was pe...

Background: Phenylketonuria (PKU), the most common inborn error of aminoacid metabolism, is an autosomal recessive disorder caused by more than 600 mutations in Phenylalanine Hydroxylase gene (PAH). Distribution pattern of mutations in the PAH gene are specific to each population. The aim of this study was to identify mutations in exons 10 and 11 of the PAH gene in patients with PKU from Golest...

Journal: :evidence based care 0
milad azami md, medical student, student research committee, ilam university of medical sciences, ilam, iran askar sufi nia md, cardiologist, department of cardiology, faculty of medicine, ilam university of medical sciences, ilam, iran mohammad hossein yektakooshali b.sc. in radiology technology, student research committee, school of nursing, midwifery and paramedicine, guilan university of medical sciences, rasht, iran sasan nikpay b.sc, laboratory student, student research committee, ilam university of medical sciences, ilam, iran yaeghoob madmoli student of nursing, student research committee of dezful university of medical sciences, dezful, iran mohammad malekshahi md, medical student, student research committee, ilam university of medical sciences, ilam, iran

pulmonary arterial hypertension (pah) is a progressive disease with high morbidity and mortality rates. research has shown that pah has a prevalence rate of 10-79% in thalassemia major patients. this cross-sectional study was carried out in 2014 to determine the prevalence and risk factors of pah in all thalassemia major patients of over 18 years of age in ilam, iran. a cardiologist measured sy...

Journal: :Molecular genetics and metabolism 2001
M Lindner D Haas E Mayatepek J Zschocke P Burgard

Recently, BH(4)-responsive phenylalanine hydroxylase (PAH) deficiency was reported in patients with specific mutations in the PAH gene, and it was suggested that BH(4) responsiveness may be determined by the respective genotypes. We now report on three patients with PAH deficiency and the same genotype but different responses to standardized BH(4) loading. Our results suggest that BH(4) respons...

2017
Konstantinos Dimopoulos Lisa Parfitt

Congenital heart disease (CHD) is one of the most common causes of pulmonary arterial hypertension (PAH), with a prevalence nearing that of idiopathic PAH in registries. Despite similarities in pulmonary vascular pathology, PAHCHD differs from idiopathic PAH and other types of PAH. In fact, PAH-CHD is a term that includes a wide spectrum of conditions and pathophysiologies, ranging from Eisenme...

2005
Jason X. - J. Yuan Lewis J. Rubin

Pulmonary hypertension can be classified into 4 categories: pulmonary arterial hypertension (PAH), pulmonary venous hypertension, pulmonary hypertension associated with hypoxemia, and pulmonary hypertension due to chronic thrombotic or embolic disease. PAH is a progressive and often fatal condition that predominantly affects women. Approximately 10% of patients diagnosed with PAH without a demo...

Journal: :Circulation journal : official journal of the Japanese Circulation Society 2013
Yoshihiro Fukumoto Norikazu Yamada Hiromi Matsubara Minori Mizoguchi Kazuaki Uchino Atsushi Yao Yasuki Kihara Mitsuhiro Kawano Hiroshi Watanabe Yutaka Takeda Takeshi Adachi Shinobu Osanai Nobuhiro Tanabe Teruo Inoue Akihiro Kubo Yuri Ota Koichiro Fukuda Takeshi Nakano Hiroaki Shimokawa

BACKGROUND We have previously demonstrated that long-term inhibition of Rho-kinase ameliorates pulmonary arterial hypertension (PAH) in animal models. In the present study, we examined the clinical effects of mid-term oral treatment with an extended release formulation of AT-877 (fasudil hydrochloride), a specific Rho-kinase inhibitor (AT-877ER) on PAH. METHODS AND RESULTS 23 PAH patients wer...

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