Results 41 to 50 of about 41,590 (263)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Tbx20 Is Required in Mid-Gestation Cardiomyocytes and Plays a Central Role in Atrial Development. [PDF]

, 2018
RationaleMutations in the transcription factor TBX20 (T-box 20) are associated with congenital heart disease. Germline ablation of Tbx20 results in abnormal heart development and embryonic lethality by embryonic day 9.5.
Aneas, Ivy, Bogomolovas, Julius, Boogerd, Cornelis J, Chen, Ju, Evans, Sylvia M, Joslin, Amelia C, Montefiori, Lindsey, Nobrega, Marcelo A, Sakabe, Noboru, Sobreira, Debora R, Zhang, Lunfeng, Zhou, Bin, Zhu, Xiaoming   +12 more
core   +2 more sources

Totally thoracoscopic closure for atrial septal defect on perfused beating hearts [PDF]

European Journal of Cardio-Thoracic Surgery, 2011
To investigate the feasibility and safety of non-robotically assisted totally thoracoscopic closure for atrial septal defect (ASD) on perfused beating hearts.Twenty-four patients (8-45 years, mean 14.4 ± 18.7) underwent ASD closure on beating hearts by a totally thoracoscopic approach without the aid of a robotic surgical system. Additional 72 patients
Zeng-Shan, Ma, Ming-Feng, Dong, Qiu-Yang, Yin, Zhi-Yu, Feng, Le-Xin, Wang   +4 more
openaire   +2 more sources

Heart failure caused by iatrogenic atrial septal defect after cryoballoon ablation for atrial fibrillation

Journal of Cardiology Cases, 2021
An 83-year-old man with no structural heart disease underwent pulmonary vein isolation (PVI) for symptomatic paroxysmal atrial fibrillation (AF). The PVI was successfully performed by cryoballoon ablation with a single transseptal puncture. A 12Fr deflectable sheath and an 8.5Fr long sheath crossed the interatrial septum via the same puncture site ...
Yasunobu Yamagishi, Yasushi Oginosawa, Kan Kikuchi, Jun Muneuchi, Keishiro Yagyu, Taro Miyamoto, Keita Tsukahara, Hisaharu Ohe, Ritsuko Kohno, Haruhiko Abe   +9 more
openaire   +3 more sources

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Ethnical variations in the incidence of congenital heart defects in Gorgan, Northern Iran: A single-center study [PDF]

, 2014
Background: Congenital heart disease (CHD) is the most common congenital anomaly in newborns. This study was performed to determine the live birth incidence of CHD by ethnicity and sex in Gorgan, Northern Iran.
Golalipour, M.J., Nikyar, A., Nikyar, B., Qorbani, M., Sedehi, M.   +4 more
core  

Economic Analysis of Children's Surgical Care in Low- and Middle-Income Countries: A Systematic Review and Analysis. [PDF]

, 2016
BackgroundUnderstanding the economic value of health interventions is essential for policy makers to make informed resource allocation decisions. The objective of this systematic review was to summarize available information on the economic impact of ...
Ameh, Emmanuel A, Farmer, Diana, Ozgediz, Doruk, Poenaru, Dan, Rice, Henry E, Saxton, Anthony T, Smith, Emily R   +6 more
core   +4 more sources

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report

Journal of Medical Case Reports, 2018
Background Atrial septal defect often become more severe when encountered in genetic syndromes. Congenital disorder of glycosylation type 1a is an inherited metabolic disorder associated with mutations in PMM2 gene and can affect almost all organs ...
Ruo-hao Wu, Dong-fang Li, Wen-ting Tang, Kun-yin Qiu, Yu Li, Xiong-yu Liao, Dan-xia Tang, Li-jun Qin, Bing-qing Deng, Xiang-yang Luo   +9 more
doaj   +1 more source

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