Results 51 to 60 of about 9,783 (206)

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Hereditary hemorrhagic telangiectasia, embolization, and Young’s procedure: oral surgical management

Journal of Oral Medicine and Oral Surgery, 2018
Hereditary hemorrhagic telangiectasia (HHT) case with history of embolization and Young’s procedure: surgical management. Introduction: Osler–Weber–Rendu disease hereditary hemorrhagic telangiectasia (HHT) is a genetic vascular dysplasia.
Malthiery Eve, de Thierrens Carle Favre, Bouchiha Kevin, Levallois Bernard, Torres Jacques-Henri, Fauroux Marie-Alix   +5 more
doaj   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Hereditary hemorrhagic telangiectasia patient presenting with brain abscess due to silent pulmonary arteriovenous malformation

The Pan African Medical Journal, 2016
Hereditary hemorrhagic telangiectasia is a rare autosomal dominant inherited disease that is usually complicated by visceral vascular malformations. Patients harboring such malformations are at increased risk of brain abscess formation, which despite ...
Marios Themistocleous, Dimitrios Giakoumettis, Andreas Mitsios, Christos Anagnostopoulos, Aristoteles Kalyvas, Christos Koutsarnakis   +5 more
doaj   +1 more source

Central nervous system manganese induced lesions and clinical consequences in patients with hereditary hemorrhagic telangiectasia [PDF]

, 2017
Background Around 47–74% of patients with hereditary hemorrhagic telangiectasia (HHT) have hepatic vascular malformations (HVMs); magnetic resonance images (MRI) of the central nervous system (CNS) might show in T1 sequences a hyper-intensity signal in ...
Bandi, J.C., Bauso, D., Besada, C.H., Cabana Cal, A., Elizondo, C.M., Giunta, D.H., Golimstok, A.B., Saenz, A., Serra, M.M., Stefani, C.V.   +9 more
core   +2 more sources

Kaposiform hemangioendothelioma: Diagnosis and treatment

Pediatric Investigation, EarlyView.
Vascular endothelial growth factor‐C (VEGF‐C)/vascular endothelial growth factor receptor‐3 (VEGFR‐3) and angiopoietin‐2 (Ang‐2)/tyrosine kinase with immunoglobulin‐like and EGF‐like domain 2 (TIE2) signaling pathways play an important role in lymphangiogenesis.
Yi Tian, Yuanyuan Tian, Li Wei, Zigang Xu, Li Li, Lin Ma   +5 more
wiley   +1 more source

Radiofrequency for Treatment of Refractory Epistaxis in Hereditary Hemorrhagic Telangiectasia

Acta Médica Portuguesa, 2018
Hereditary hemorrhagic telangiectasia is a rare multi-systemic autosomal dominant disorder characterized by dysplasia of the vascular connective tissue and recurrent bleeding tendency. Epistaxis is the most common and earliest symptom. It is usually mild
Mariana Donato, João Pimentel, Rui Cabral, Pedro Escada   +3 more
doaj   +1 more source

Hemobilia from biliary angiodysplasia diagnosed with cholangioscopy [PDF]

, 2016
Biliary angiodysplasia is extremely rare. Our background search revealed only a few case reports in the English literature. We present a case of angiodysplasia of the proximal common bile duct in a patient with subacute upper gastrointestinal bleeding ...
Foong, Kap Sum, Kudakachira, Shaismy, Lee, Ashley, Ramberan, Hemchand   +3 more
core   +2 more sources

Advances in mucosal injury mechanisms in radiation‐induced esophagitis associated with thoracic radiotherapy

Precision Radiation Oncology, EarlyView.
There is no specific therapeutic drug regimen for radiation esophagitis. In previous studies, radiation esophagitis was considered a self‐limiting disease; however, current clinical approaches are limited to symptomatic treatment, which yields unsatisfactory therapeutic outcomes.
Hao Zhang, Liangxue Luo, Chaofen Zhao, Bibo Wu, Jing Zhang, Lingfeng Liu, Bing Lu, Shengfa Su   +7 more
wiley   +1 more source

Telangiectasia hemorrágica hereditária e malformações arteriovenosas pulmonares – Embolização com rolhão vascular Amplatzer

Revista Portuguesa de Pneumologia, 2009
Resumo: As malformações arteriovenosas pulmonares (MAVP) estão associadas a telangiectasia hemorrágica hereditária em cerca de 70% dos casos, podendo cursar com complicações neurológicas graves decorrentes do em-bolismo paradoxal potencial.
Cláudia Sofia Santos, Ana Norte, Ilda Ferreira, Paulo Almeida, A. Segorbe Luís, Mário Loureiro, M. Fontes Baganha   +6 more
doaj   +1 more source