Results 11 to 20 of about 21,083 (128)

Familial Primary Pulmonary Hypertension. Report of Two Siblings.

Japanese Journal of Medicine, 1991
Familial primary pulmonary hypertension was found in two siblings (sister and brother). The woman noted exertional dyspnea at the age of 28 yr. The younger brother noticed exertional dyspnea, cough with bloody sputum and pretibial edema at the age of 38 yr.
K, Kodama, M, Hamada, Y, Shigematsu, M, Suzuki, K, Hiwada, Y, Hayashi, H, Hashimoto, H, Hashimoto, A, Sugita   +8 more
openaire   +3 more sources

StratosPHere 2: study protocol for a response-adaptive randomised placebo-controlled phase II trial to evaluate hydroxychloroquine and phenylbutyrate in pulmonary arterial hypertension caused by mutations in BMPR2

Trials
Background Pulmonary arterial hypertension is a life-threatening progressive disorder characterised by high blood pressure (hypertension) in the arteries of the lungs (pulmonary artery).
Nina Deliu, Rajenki Das, Angelique May, Joseph Newman, Jo Steele, Melissa Duckworth, Rowena J. Jones, Martin R. Wilkins, Mark R. Toshner, Sofia S. Villar   +9 more
doaj   +1 more source

FAMILIAL CASES OF PRIMARY PULMONARY HYPERTENSION (PPH)

The KITAKANTO Medical Journal, 1989
Primary pulmonary hypertension (PPH) is an uncommon fatal disease. Although this is usually a nonfamilial disease, there are some cases of familial occurrence. We reported two families of PPH ; elder brother and younger sister in one family and elder sister and younger brother in the other.
YUTAKA YONEYAMA, TAKASHI IWASE, MIWAKO TAMURA, TAKESATORU FUKUDA, YOSHIMI YAMAMOTO, YOSHIHIRO TAJIMA, AKIRA HASEGAWA, TADASHI SUZUKI, AZUHIKO MURATA, AKIRA OGAWA   +9 more
openaire   +2 more sources

Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension. [PDF]

American Journal of Respiratory and Critical Care Medicine, 1995
The genetic basis of familial primary pulmonary hypertension (FPPH) is unknown, but the clinical and pathologic features are the same as in sporadically occurring primary pulmonary hypertension (PPH). Because few families with this disease have been reported, the mode of inheritance and genetic features have not been clearly established.
J E, Loyd, M G, Butler, T M, Foroud, P M, Conneally, J A, Phillips, J H, Newman   +5 more
openaire   +2 more sources

Current landscape of orphan disease clinical research in Colombia: a scoping review

Journal of Rare Diseases
Purpose The main objective of this scoping review is to evaluate the current state of clinical trial research on orphan diseases in Colombia over the past five years.
Carlos Leal-Bernal, Constanza Neri-Morales, Giovanni Rodríguez, Derly Carolina Hernández, Humberto Reynales   +4 more
doaj   +1 more source

Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension

Nature Genetics, 2000
Primary pulmonary hypertension (PPH), characterized by obstruction of pre-capillary pulmonary arteries, leads to sustained elevation of pulmonary arterial pressure (mean >25 mm Hg at rest or >30 mm Hg during exercise). The aetiology is unknown, but the histological features reveal proliferation of endothelial and smooth muscle cells with vascular ...
K. B. Lane, Rajiv Machado, M. W. Pauciulo, J. R. Thomson, J. A. Phillips, J. E. Loyd, W. C. Nichols, R. C. Trembath   +7 more
openaire   +2 more sources

Familial primary pulmonary hypertension. [PDF]

Heart, 1966
W R, Parry, D, Verel
openaire   +2 more sources

Familial primary pulmonary hypertension.

Indian heart journal, 2002
Primary pulmonary hypertension is a rare disease affecting mostly females. We report a family where 2 of the 3 male children born to consanguineous parents had severe pulmonary hypertension of unexplained cause. The occurrence of overtly manifest primary pulmonary hypertension is rare in males, especially at an early age.
openaire   +1 more source

[Primary pulmonary hypertension in childhood: familial aspects].

La Pediatria medica e chirurgica : Medical and surgical pediatrics, 1982
Primary pulmonary hypertension (PPH) is a rare, progressive and usually fatal disease. Its pathogenesis remains obscure. Probably multiple genetic and environmental factors play a role in the occurrence of PPH. PPH sometimes runs in families. We have studied two families in which some members were affected: in family A two sibs, their father and ...
SQUARCIA U, HAITINK O, GIOVANNELLI G., CARANO, Nicola, AGNETTI, Aldo   +4 more
openaire   +1 more source

Primary pulmonary hypertension: familial occurrence. [PDF]

Heart, 1968
W B, Hood, H, Spencer, R W, Lass, R, Daley   +3 more
openaire   +2 more sources