Results 141 to 150 of about 2,128,557 (346)

Pacemapping [PDF]

open access: yes, 2005
Pacemapping (PM) is an electrophysiologic technique designed to help locating tachycardia sources by stimulating at different endocardial sites in order to reproduce the clinical tachycardia characteristics.
Moreno, Mauricio   +2 more
core   +2 more sources

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear   +16 more
wiley   +1 more source

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

open access: yesAmerican 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   +5 more
wiley   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim   +2 more
wiley   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

open access: yesAmerican 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   +9 more
wiley   +1 more source

Left Atrial Myxoma Following Coronary Artery Bypass Grafting with Patient Coronary Arterial Grafts: a Rarity

open access: yesBrazilian Journal of Cardiovascular Surgery
The development of left atrial myxoma after coronary artery bypass graft surgery is a rare entity. A 60-year-old man with previous off-pump coronary artery bypass grafting four years ago with patent coronary grafts was diagnosed with left atrial mass ...
Kartik Patel   +3 more
doaj   +1 more source

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta‐Analysis

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava   +5 more
wiley   +1 more source

An optimized perfusate for enhanced rat ex vivo lung perfusion and lung transplant models

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We explored a low‐cost and efficient perfusate composition for use in rat ex vivo lung perfusion (EVLP) and lung transplant models. This perfusate demonstrates better biocompatibility, likely due to a reduction in immune responses associated with high doses of xenogenic proteins, resulting in less lung injury posttransplantation.
Jie Zhang, Xuanlin Zhang, Jianxing He
wiley   +1 more source

Rapid severe hypertension and organ damage in two‐kidney two‐clip rats produced by different sizes of clips

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Blood pressure increases immediately when the 2K2C rats (made with 0.3, 0.25, and 0.2 mm U‐shaped clips) regain consciousness from anesthesia. 100% of the rats develop hypertension on the day of 2K2C surgery. Blood pressure continues to rise, resulting in severe hypertension and organ damage to the brain, heart, aorta, and kidneys at 1, 2, 4, and 6 ...
Jia‐Sheng Tian   +4 more
wiley   +1 more source

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