Results 61 to 70 of about 44,851 (309)

Consumed by Abdominal Distention

Arthritis Care &Research, EarlyView.
Abimbola Fadairo‐Azinge, James Grenert, Brian Haas, Mary Margaretten   +3 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

The Fate of the Outflow Tract Septal Complex in Relation to the Classification of Ventricular Septal Defects

Journal of Cardiovascular Development and Disease, 2019
It is now established that the entity often described as an “aortopulmonary septal complex„ is better considered as an “outflow tract septal complex„.
Robert H. Anderson, Justin T. Tretter, Diane E. Spicer, Shumpei Mori   +3 more
doaj   +1 more source

Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome) [PDF]

, 2005
Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities. CHD is present
Marino, Bonnie, Capolino, Rossella, Digilio, Maria Cristina, Dallapiccola, B.   +3 more
core  

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

The use of anticoagulation in pediatric cardiac disease [PDF]

, 2003
Palliation and repair of increasingly complex congenital heart defects as well as the emergence of novel contexts has led to multiple scenarios in which a real or potential risk of thromboembolism may exist. While various anticoagulation methodologies
Harris, Matthew A., Boris, Jeffrey R.
core  

Congenital Heart Defects

, 2022
Over the last 50 years, there have been remarkable developments in the diagnosis and treatment of congenital heart defects. This book addresses some of these developments, including the role of echocardiography in improving the prognosis of fetal heart ...

core   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Frequency and pattern of Congenital Heart Defects in children with Down’s Syndrome

Gomal Journal of Medical Sciences, 2012
Background: Patients with Down’s syndrome are prone to have congenital heart defects. This study was conducted to evaluate the frequency of various congenital heart defects in children with Down’s syndrome in Khyber Pukhtunkhwa province.
Inayatullah Khan, Taj Muhammad
doaj  

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source