Results 11 to 20 of about 35,344 (280)

A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 228-233, January 2023., 2023
Abstract Pulmonary arterial hypertension (PAH) is a disease characterized by pathological remodeling of the pulmonary vasculature causing elevated pulmonary artery pressures and ultimately, right ventricular failure from chronic pressure overload. Heterozygous pathogenic GDF2 (encoding bone morphogenetic protein 9 (BMP9)) variants account for some (>1%)
Paul Upton   +5 more
wiley   +1 more source

Clinical overview on RASopathies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022
Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley   +1 more source

Poor expression of miR‐195‐5p can assist the diagnosis of cerebral vasospasm after subarachnoid hemorrhage and predict adverse outcomes

open access: yesBrain and Behavior, Volume 12, Issue 12, December 2022., 2022
Abstract Objective Patients with spontaneous subarachnoid hemorrhage (SAH) may develop refractory arterial cerebral vasospasm (CVS), which is the leading cause of death in SAH patients. This study explored the clinical diagnostic value of serum miR‐195‐5p levels in CVS after SAH (SAH + CVS) and its relationship with the prognosis of SAH + CVS.
Yong Li   +3 more
wiley   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

open access: yesHepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid   +20 more
wiley   +1 more source

Unruptured brain arteriovenous malformations causing seizures localize to one common brain network

open access: yesJournal of Neuroscience Research, Volume 101, Issue 2, Page 245-255, February 2023., 2023
Seizures are a frequent symptom of unruptured brain arteriovenous malformations (bAVMs). Using VLSM and LNM analyses, we indicated that unruptured bAVMs causing seizures, while anatomically heterogeneous, were located within a common network, which could be a plausible neuroimaging biomarker for the prediction of possible seizures.
Shao‐Zhi Zhao   +9 more
wiley   +1 more source

Obstetrical and neonatal complications in hereditary haemorrhagic telangiectasia: A retrospective study

open access: yesBJOG: An International Journal of Obstetrics &Gynaecology, Volume 130, Issue 3, Page 303-311, February 2023., 2023
Abstract Objective To retrospectively describe a large series of pregnancies in women with hereditary haemorrhagic telangiectasia followed in our reference centre, plus neonatal outcomes, to better understand the risks of complications and to improve their prevention.
Laura Delagrange   +5 more
wiley   +1 more source

Impact of hyperoxia and phenylephrine on cerebral oxygenation: An experimental clinical study

open access: yesActa Anaesthesiologica Scandinavica, Volume 67, Issue 1, Page 57-65, January 2023., 2023
Abstract Background Oxygen supply to the brain is of special importance during intracranial surgery because it may be compromised by intracranial pathology. A high arterial blood pressure (mean arterial pressure above 80 mmHg) and a high arterial oxygen tension (PaO2 above 12 kPa) is therefore often targeted in these patients, when for example ...
Sofie S. Pedersen   +8 more
wiley   +1 more source

Mitigation of the Turbulence within an Arteriovenous Fistula with a Stent Implantation [PDF]

open access: yesPhysical Review Fluids, 7 (2022), 2022
The transitional flow which initiates within the junction (anastomosis) of an arteriovenous fistula (AVF) is known to be a contributing factor in the onset of vascular disease. A novel treatment method involving the implantation of a flexible stent across the anastomosis has enabled the retention of a large proportion of functioning AVFs, despite the ...
arxiv   +1 more source

Recurrent head and neck arteriovenous malformations: A case report

open access: yesRadiology Case Reports, 2023
Head and neck arteriovenous malformations are rare, congenital, and high-flow vascular malformations characterized by abnormal communication between feeding arteries and draining veins without intervening capillaries.
Tran Chi Cuong, MD, PhD   +9 more
doaj  

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