Results 81 to 90 of about 288,653 (253)

Contribuição ao estudo da circulação venosa coronariana na doença de Chagas crônica [PDF]

, 2020
Tese (doutorado)—Universidade de Brasília, Faculdade de Medicina, Programa de Pós-Graduação em Medicina Tropical, 2020.O seio coronário (SC) é uma estrutura altamente especializada que participa ativamente na circulação venosa coronariana. Como na doença
Machado, Glauco André
core   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

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

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni   +5 more
wiley   +1 more source

Case 5/2008: 44-year-old male patient that died of cardiogenic shock on the 6th postoperative day asfter orthotopic heart transplant [PDF]

, 2008
FERREIRA, Mariane Venturoli, GUTIERREZ, Paulo Sampaio, PEDROSA, Rodrigo Pinto   +2 more
core   +3 more sources

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +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

Implante de Cardioversor-Desfibrilador de Dupla-Câmara Utilizando Cabo-Eletrodo Unico

Journal of Cardiac Arrhythmias, 2002
O modo VDD com eletrodo único para a estimulaçao cardíaca artificial em pacientes com BAVT e resposta cronotrópica do nó sinusal tem sido utilizado em casos selecionados.
Oswaldo Tadeu GRECO, Augusto CARDINALLI NETO, Marcelo José Ferreira SOARES, Carlos Alberto SANTOS, Antonio Carlos BRANDI, Joselia Menim BRANDI, Paulo Roberto PAVARINO, Paula Fernanda da MATA, Tatiana Assad DOMINGOS, Domingo Marcolino BRAILE   +9 more
doaj   +4 more sources

Bloqueio atrioventricular avançando no hiperparatireoidismo: uma complicaçao rara e irreversível [PDF]

, 2017
Hiperparatireoidismo associado a hipercalcemia causando bradicardia significativa é uma combinaçao rara. Relatamos o caso de uma paciente de 62 anos de idade em pré-operatório de paratireoidectomia total decorrente de hiperparatireoidismo primário ...
Faissal Ibrahim Soumaille, Izabela Araujo Alcazas, Júlio César Queiroz de França, Marcio Antonio dos Santos, Moacir Fernandes de Godoy   +4 more
core   +1 more source

3‐Year Outcomes of Temperature‐Controlled Radiofrequency Ablation of the Posterior Nasal Nerve in Patients With Chronic Rhinitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Temperature‐controlled radiofrequency (TCRF) ablation of the posterior nasal nerve has been shown to improve chronic rhinitis (CR) symptoms and quality of life (QoL). This study assesses the durability of TCRF's effectiveness and safety 3 years post‐procedure in patients with perennial allergic CR and nonallergic CR.
J. Pablo Stolovitzky, Randall A. Ow, Stacey L. Silvers, Bobby A. Tajudeen, Chad M. McDuffie, Marc Dean, Ahmad R. Sedaghat, Katie Phillips, Masayoshi Takashima   +8 more
wiley   +1 more source