Results 81 to 90 of about 115,894 (308)

Association of ECG findings with low ejection fraction and elevated right ventricular systolic pressure on echocardiogram.

, 2013
Association of ECG findings with low ejection fraction and elevated right ventricular systolic pressure on echocardiogram.
Roozbeh Sharif (200923), Brock E. Harper (478646), Richard A. Lange (478648), Hilda T. Draeger (478645), Emilio B. Gonzalez (200941), Shervin Assassi (200915), Frank C. Arnett (86979), Maureen D. Mayes (200920), Ameena Manzoor (478647)   +8 more
core   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Study on Carbamazepine induced electrocardiographic, blood pressure and echocardiographic changes in the dog [PDF]

Āsīb/shināsī-i Darmāngāhī-i Dāmpizishkī, 2019
Carbamazepine is used as an anticonvulsant drug in the treatment of simple slight convulsion and generalized tonic-clonic, trigeminal neuralgia, and also as preventive agent in manic depressive.
R Kaffash Elahi, daryoush mohajeri, alireza nourazar, Yasin Bagheri   +3 more
doaj  

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

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Fuzzy-based echocardiogram boundary enhancement [PDF]

, 2007
In cardiology, ultrasound is rapidly becoming one of the most sought after tool to investigate cardiac performance. Echocardiogram, or cardiac ultrasound, has many advantages and plays an important role in studies concerning heart disease ...
Chan, Sheila Oi Yip
core   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Utility of fetal echocardiogram in high-risk patients

, 2005
AimPatients at high risk of fetal congenital heart disease are commonly referred for second trimester fetal echocardiogram. The objective of this study was to evaluate the utility of routine fetal echocardiogram in high-risk patients after the evaluation
Herlong, J., Muller, P., James, A., Feldman, K.   +3 more
core   +1 more source

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

A Large Retrospective Study to Evaluate Utility of Zephyr Covered Stent in Transcatheter Closure of Sinus Venosus Defects

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Background Transcatheter closure (TCC) of sinus venosus defects (SVD) using balloon‐expandable covered stents is an emerging alternative to surgery. ZephyrCS (Sahajanand Laser Technologies, Gandhinagar, India) is available in long lengths to suit SVD closure.
Pramod Sagar, Puthiyedath Thejaswi, Kothandam Sivakumar, Praveen Ashok Kumar   +3 more
wiley   +1 more source