Results 51 to 60 of about 113,350 (283)

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Absence of right superior vena cava and persistence of left superior vena cava in fetus: Presenting two cases.

Revista Cubana de Cardiología y Cirugía Cardiovascular, 2011
Persistent Left Superior Vena Cava is the most common congenital vascular anomaly. In the vast majority of cases its persistence coincides with thepresence of the right superior vena cava. The absence of the latter with persistent left superior vena cava
Yamelic Bernal, Carlos García Guevara, Elsa F. Ruisanchez, Pablo Marantz, Carlos García Morejón, Andrés Savío Benavides   +5 more
doaj  

Persistent Left Superior Vena Cava in Hematological Malignancy Requiring Central Venous Catheter Insertion for Intensive Chemotherapy

Case Reports in Oncology, 2015
Persistent left superior vena cava is a congenital vascular anomaly, which is possibly arrhythmogenic and thrombogenic, rarely complicated with coronary sinus atresia.
Osamu Imataki, Hiroyuki Kubo, Yukiko Hamasaki, Maki Oku, Jun-ichiro Kida, Makiko Uemura, Harumi Matsuka   +6 more
doaj   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava, Melissa L. Crenshaw, Ivonne Bedei, Marisol Soto, Andréa T. Maciel‐Guerra, Anne Skakkebæk   +5 more
wiley   +1 more source

The accessory renal arteries: A systematic review with meta‐analysis

Clinical Anatomy, EarlyView.
Abstract The accessory renal arteries (ARAs) are a well‐described variant of the renal vasculature with clinical implications for radiologists, surgeons, and clinicians. The aim of the present systematic review with meta‐analysis was to estimate the pooled prevalence of ARAs, including their variant number, origin, and termination, and to highlight ...
George Triantafyllou, Ioannis Paschopoulos, Andrzej Węgiel, Łukasz Olewnik, George Tsakotos, Nicol Zielinska, Maria Piagkou   +6 more
wiley   +1 more source

Application of balloon dilatation during tunneled cuffed catheter replacement

Linchuang shenzangbing zazhi, 2022
ObjectiveTo explore the indication of balloon dilatation and the selection of balloon diameter during tunneled cuffed catheter replacement in the presence of fibroblastic sleeve and/or superior vena cava stenosis or occlusion and examine the causes of ...
Hou Xi-bin, Zhan Shen, Hou Fang, Cui Rui, Wang Yu-zhu   +4 more
doaj  

Superior Vena Cava Syndrome due to pericardial hematoma: A case report and mini-review of literature

SAGE Open Medical Case Reports, 2021
Superior vena cava syndrome is a life-threatening condition. Typically, the clinical presentations are gradual; hence, the diagnosis is often delayed until critical compression or obstruction has occurred.
Aninka Saboe, Andra Naufal Pramanda, Melawati Hasan, Nuraini Yasmin Kusumawardhani, Euis Maryani, Undang Ruhimat, Charlotte Johanna Cool   +6 more
doaj   +1 more source

Thyroblastoma in Pregnancy: Expanding the Cytomorphological Spectrum of a Novel DICER1‐Associated Entity, a Case Report and Literature Review

Diagnostic Cytopathology, EarlyView.
ABSTRACT Introduction Thyroblastoma is a rare, aggressive thyroid neoplasm newly classified in the 2022 WHO Classification of Endocrine Tumors. It is characterized by embryonal, multilineage morphology and DICER1 mutations. Fewer than 15 well‐characterized cases have been reported, with limited cytological descriptions.
R. Razack, A. C. van Wyk, P. T. Schubert, D. Pelletier, W. D. Foulkes, C. Njovu, W. Conradie, F. Hoosain   +7 more
wiley   +1 more source

Superior vena cava drainage improves upper body oxygenation during veno-arterial extracorporeal membrane oxygenation in sheep

Critical Care, 2015
IntroductionDifferential hypoxia is a pivotal problem in patients with femoral veno-arterial (VA) extracorporeal membrane oxygenation (ECMO) support. Despite recognition of differential hypoxia and attempts to deliver more oxygenated blood to the upper ...
X. Hou, Xiaofang Yang, Z. Du, J. Xing, Hui Li, Chun-jing Jiang, Jinhong Wang, Z. Xing, Shuanglei Li, Xiaokui Li, Feng Yang, Hong Wang, H. Zeng   +12 more
semanticscholar   +1 more source