Results 101 to 110 of about 32,246 (328)

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source

Premature ventricular complexes: new possibilities of diagnostics and management

Евразийский Кардиологический Журнал
Premature ventricular complexes (PVC) is one of the most common arrhythmias in daily clinical practice. In the vast majority of cases, PVC has a good prognosis, but in some cases it can cause serious, including lifethreatening complications. On the other
D. A. Kuzhel, E. A. Savchenko
doaj   +1 more source

Short-term Heart Rate Turbulence Analysis Versus Variability and Baroreceptor Sensitivity in Patients With Dilated Cardiomyopathy [PDF]

, 2004
New methods for the analysis of arrhythmias and their hemodynamic consequences have been applied in risk stratification, in particular to patients after myocardial infarction.
Bauernschmitt, Robert, Malberg, Hagen, Meyerfeldt, Udo, Schirdewan, Alexander, Wessel, Niels   +4 more
core   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Predictors of Outcome After Catheter Ablation of Premature Ventricular Complexes [PDF]

, 2014
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/107382/1/jce12400 ...
Bas, Hatice Duygu, Baser, Kazim, Belardi, Diego, Bogun, Frank, Good, Eric, Latchamsetty, Rakesh, Morady, Fred, Yokokawa, Miki   +7 more
core   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Predicting factors for unresolved premature ventricular complexes in healthy children

BMC Pediatrics
Background Premature ventricular complexes (PVCs) are generally benign in healthy children, but in some cases, a persistent high PVC burden may be observed, potentially related to ventricular tachycardia or left ventricular dysfunction.
Seongjin Choi, Jae Suk Baek, Mi Jin Kim, Seulgi Cha, Jeong Jin Yu   +4 more
doaj   +1 more source

Pathophysiology, diagnosis and treatment of tachycardiomyopathy. [PDF]

, 2017
Tachycardiomyopathies (TCMP) are an important cause of left ventricular (LV) dysfunction that should be recognised by physicians as they are potentially reversible and have a significant impact on morbidity and prognosis.
Lambiase, PD, Martin, CA
core   +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

Case of idiopathic left ventricular summit premature ventricular contractions successfully treated by catheter ablation

Clinical Case Reports
Key Clinical Message CA of LVS premature beats complexes is difficult due to anatomical limitations. We report a patient with PVCs originating from the LVS region who was successfully ablated by ablation.
Na Tian, Like Ma, Yinjiao Ma, Zhen Yang
doaj   +1 more source