Results 101 to 110 of about 369,424 (313)

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Double-chambered left ventricle diagnosis by 2D and 3D echocardiography : From fetus to birth

, 2019
Double-chambered left ventricle (DCLV) is a rare cardiac anomaly and is characterized by the division of the left ventricle by abnormal muscle and/or fiber bundles into two chambers.
Xue, Chao, Han, Jiancheng, Zhang, Ye, Gu, Xiaoyan, Henein, Michael,, He, Yihua, Zhao, Ying   +6 more
core   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Heart disease in infants of diabetic mothers [PDF]

, 2000
Congenital anomalies occur more commonly in infants born to diabetic mothers, and cardiac defects predominate. Although respiratory problems are also frequently found in those infants, they need to be differentiated from cardiovascular problems that ...
Narchi, Hassib, Kulaylat, N.
core  

Effect of Performing Real Time Three-Dimensional Transesophageal Echocardiography in Addition to Two-Dimensional Transesophageal Echocardiography on Operator Diagnostic Confidence

, 2011
This study evaluates the effects of performing real time three-dimensional transesophageal echocardiography in addition to conventional two-dimensional transesophageal echocardiography on diagnostic confidence.
Carol Ma, Torres, Silvia, Howard J. Willens, Willens, Howard J, Keith, Karen, Jian Xin Qin, Grossman, Jay R, Hendel, Robert C, Silvia Torres, Robert C. Hendel, Jay R. Grossman, Karen Keith, Mauro Moscucci, Qin, Jian Xin, Ma, Carol, Moscucci, Mauro   +15 more
core   +1 more source

Refining a preclinical model of viral myocarditis in accordance with biotech standards

Animal Models and Experimental Medicine, EarlyView.
This study aimed to refine a murine model of Coxsackievirus B3‐induced myocarditis by integrating dietary and imaging innovations to improve animal welfare, data quality, and clinical applicability. The refined diet significantly reduced animal health burden, reduced weight loss, and stabilized blood glucose during development of cardiac inflammation ...
Jonas Stewen, Julia Riedesel, Juliane Stein, Brandon H. Greene, Svenja Rohde, Sonja Suess, Bjoern Keiner, Priya Panjwani, Padmapriya Ponnuswamy, Juan E. Camacho Londoño   +9 more
wiley   +1 more source

Exercise echocardiography

World Journal of Cardiology, 2010
Exercise echocardiography has been used for 30 years. It is now considered a consolidated technique for the diagnosis and risk stratification of patients with known or suspected coronary artery disease (CAD). Of the stress echocardiography techniques, it represents the first choice for patients who are able to exercise.
Jesus, Peteiro, Alberto, Bouzas-Mosquera
openaire   +2 more sources