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Pathogenic Glomulin Gene Variant in a Patient with Idiopathic Pulmonary Arterial Hypertension: A Novel Association Case Report [PDF]
ReportsBackground and Clinical Significance: Idiopathic pulmonary arterial hypertension is a rare disorder, often linked to genetic predisposition. Canonical pulmonary arterial hypertension genes such as BMPR2, KCNK3, and TBX4 are well described, but novel ...
Ilias E. Dimeas +5 more
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Pulmonary Circulation, 2019 Idiopathic pulmonary arterial hypertension is a rare and life-shortening condition often diagnosed at an advanced stage. Despite increased awareness, the delay to diagnosis remains unchanged.
David G. Kiely +10 more
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Idiopathic pulmonary arterial hypertension and co-existing lung disease: is this a new phenotype?
Pulmonary Circulation, 2020 Patients classified as idiopathic pulmonary arterial hypertension (defined as Group 1 on European Respiratory Society (ERS)/European Cardiac Society (ESC) criteria) may have evidence of minor co-existing lung disease on thoracic computed tomography.
Andrew J. Peacock +16 more
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Growing up with Idiopathic Pulmonary Arterial Hypertension: An Arduous Journey [PDF]
Pediatric Reports, 2023 Idiopathic pulmonary arterial hypertension (IPAH) is an uncommon and severe disease. We report the case of a 7-year-old boy investigated for cardiac murmur and exercise intolerance.
Tanguy Dutilleux +4 more
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Cardiac sympathetic dysfunction in pulmonary arterial hypertension: lesson from left-sided heart failure [PDF]
Pulmonary Circulation, 2019 Sympathetic nervous system hyperactivity has a well-recognized role in the pathophysiology of heart failure with reduced left ventricular ejection fraction.
Valentina Mercurio +10 more
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Reverse Potts for the Treatment of Severe Idiopathic Pulmonary Hypertension in Children [PDF]
Brazilian Journal of Cardiovascular Surgery, 2023 Idiopathic pulmonary arterial hypertension is a rare and progressive disease with poor prognosis. Many patients progressively worsen even when using combinations of specific drugs for its treatment.
Marcelo Frederigue de Castro +5 more
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Pulmonary hypertension associated with neurofibromatosis type 2
Pulmonary Circulation, 2021 Although precapillary pulmonary hypertension is a rare but severe complication of patients with neurofibromatosis type 1 (NF1), its association with NF2 remains unknown.
Hirohisa Taniguchi +9 more
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Pulmonary Circulation, 2020 Platelet-derived growth factor is one of the major growth factors found in human and mammalian serum and tissues. Abnormal activation of platelet-derived growth factor signaling pathway through platelet-derived growth factor receptors may contribute to ...
Kang Wu +21 more
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Nature Communications, 2021 Idiopathic pulmonary arterial hypertension is a rare and fatal disease with a heterogeneous treatment response. Here the authors show that unsupervised machine learning of whole blood transcriptomes from 359 patients with idiopathic pulmonary arterial ...
Sokratis Kariotis +34 more
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Pulmonary Circulation, 2021 Inhalation profiles to support use of dry powder inhalers for drug delivery in patients with pulmonary arterial hypertension have not been reported. We aimed to evaluate the inspiratory flow pattern associated with low and medium flow resistance dry ...
Mariana Faria-Urbina +4 more
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