Results 81 to 90 of about 9,783 (206)
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Complications and mortality in hereditary hemorrhagic telangiectasia: a population-based study [PDF]
OBJECTIVES: Studies report that the risks of significant neurologic complications (including stroke, cerebral abscess, and migraine) and hemorrhagic sequelae are high in patients with hereditary hemorrhagic telangiectasia (HHT), and that life ...
Donaldson, J.W. +4 more
core +1 more source
The Regulation and Function of Hippo/YAP Pathway in Cancer
Hippo/YAP pathway signaling plays critical roles in the progression of multiple cancer types. This review summarizes current knowledge of Hippo/YAP pathway regulation and function in cancer. We discuss the core components of the Hippo/YAP pathway; its crosstalk with other signaling pathways; regulation by non‐coding RNAs; roles of YAP signaling in ...
Chinmoy Ghosh +3 more
wiley +1 more source
As malformações arteriovenosas pulmonares são raras e mais de metade dos casos surgem em associação a telangiectasia hemorrágica hereditária. Faz-se uma revisão teórica sobre a apresentação clínica, abordagem diagnóstica, terapêutica e prognóstico destas
Diva Ferreira +5 more
doaj
Telangiectasia hemorrágica hereditaria Hereditary hemorrhagic telangiectasia
Se presenta el caso de una paciente de 52 años de edad, con antecedentes de hipertensión arterial desde hace cinco años, que acudió a consulta por presentar sangrado a nivel de la lengua en reiteradas ocasiones, desencadenados por pequeños traumatismos ...
Raymundo Rafael Fernández Díaz +2 more
doaj
Congenital pulmonary arteriovenous malformation: a rare cause of cyanosis in childhood [PDF]
Pulmonary arteriovenous malformation (PAVM) is a rare condition in which there is abnormal connection between pulmonary arteries and veins. The disorder usually appears in late childhood or early adult life, with dyspnea on exertion, clubbing or cyanosis.
Mohammad Hassan Nezafati +3 more
core +2 more sources
Future treatments for hereditary hemorrhagic telangiectasia
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler syndrome, is a genetic vascular disorder affecting 1 in 5000–8000 individuals worldwide.
Florian Robert +4 more
doaj +1 more source
Peliosis hepatis. Personal experience and literature review [PDF]
Peliosis hepatis (PH) is a disease characterized by multiple and small, blood-filled cysts within the parenchymatous organs. PH is a very rare disease, more common in adults, and when it affects the liver, it comes to the surgeon’s attention only in ...
Crocetti, Daniele +5 more
core +1 more source
Genetic testing for hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations. These lesions cause bleeding, particularly in the nose, gastrointestinal tract and brain.
Rakhmanov Yeltay +8 more
doaj +1 more source
Background: Arteriovenous malformations (AVMs) are a cardinal feature of hereditary hemorrhagic telangiectasia (HHT). However, whether to treat brain AVMs in patients with HHT remains questionable because of the possible risks.
M. Neil Woodall +2 more
doaj +1 more source

