Is this you? As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
Claim your profile
Articles by Benjamin Helm
Body Region Dysmorphology Is Predictive of Genetic Diagnoses in Infants With Congenital Heart Disease
APVR anomalous pulmonary venous return AUC area under the curve AVSD atrioventricular septal defect BRD body region dysmorphology/dysmorphism DCA decision curve analysis ECA extracardiac anomalies ES exome sequencing GS genome sequencing LVOTO left ventricular outflow tract obstruction RVOTO right ventricular outflow tract obstruction 1 Introduction Congenital heart disease/defects (CHD/CHDs) are the most common defects in humans, and genetic causes are identified in up to 20%–30% of patients...
Predicting the future for neonates with symptomatic congenital heart disease
Abstract Determine prenatal and neonatal factors that predict infantile outcomes in patients with congenital heart disease (CHD). Retrospective cohort of 415 neonates with CHD admitted to a neonatal intensive care unit (NICU). Statistical tests included Chi-square, Fisher’s Exact, Kruskal-Wallis, and multivariable logistic regression. Cardiac lesion type was associated with mortality, length of stay, and enteral feeding tube support at discharge (EFTD) (p ≤ 0.01).
Dysmorphology-Based Prediction Model for Genetic Disorders in Infants With Congenital Heart Disease
Research Article Free Accessfeatured article There is increasing recognition of Mendelian genetic disorders associated with congenital heart disease/defects (CHD/CHDs), with 20% to 30% of cases having identifiable genetic diagnoses at present.1–3 However, genetic evaluations and genetic testing remain underutilized and nonstandardized in pediatric and intensive care settings.4–9 Recommendations from the American Heart Association support the use of genetic testing in CHD to help improve...
Performance of Dysmorphology‐Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing
1 Introduction Congenital heart disease (CHD) represents the most common type of birth defect in humans, and Mendelian genetic causes are currently identified in up to 20%–30% of patients (Cowan and Ware 2015). Syndromic CHD presentations, defined here as CHD plus additional extracardiac anomalies (ECAs) and/or dysmorphic features, account for most cases with identifiable genetic causes at present (Landstrom et al. 2021).
Early ascertainment of genetic diagnoses clarifies impact on medium-term survival following neonatal congenital heart surgery
Research LetterCardiologyGenetics Open Access | 10.1172/JCI180098 J Clin Invest. https://doi.org/10.1172/JCI180098. Copyright © 2024, Landis et al. This work is licensed under the Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. View PDF Version history Version 1 (July 30, 2024): In-Press Preview
Genes | Free Full-Text | Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing
All articles published by MDPI are made immediately available worldwide under an open access license. No special permission is required to reuse all or part of the article published by MDPI, including figures and tables. For articles published under an open access Creative Common CC BY license, any part of the article may be reused without permission provided that the original article is clearly cited. For more information, please refer to https://www.mdpi.com/openaccess.
Novel NKX2.5 variant associated with congenital heart disease and increased risk of malignant arrhythmia and sudden cardiac death
Hostname: page-component-5d59c44645-zlj4b Total loading time: 0 Render date: 2024-03-01T10:58:08.275Z Has data issue: false hasContentIssue false Published online by Cambridge University Press: 12 September 2023 Benjamin M. Helm [Opens in a new window] , Adam C. Kean [Opens in a new window] and Show author details Abstract References Keywords NKX2.5conduction diseasesudden cardiac deathCHD Type Original Article Information Cardiology in the Young , Volume 34 , Issue 3 , March 2024 , pp.
Genome | In With the New
“I just don’t think we can tell her about this. Our great-aunt has early signs of dementia and is dealing with progressive multiple sclerosis. Plus, she never really coped with her son’s death. It’s a wound not worth reopening for her now.” These were the words of one of my patients, reflecting on her nearly 80-year-old aunt. Both were members of a large family with long QT syndrome (LQTS).
The Needle and the Damage Done
When my kids were little, among their favorite books was The Value of Believing in Yourself: The Story of Louis Pasteur. In it, a determined Pasteur declares that he “must find the invisible enemy,” that is, the germ that causes rabies. Meanwhile, hundreds of kilometers to the east, in a tiny village in Alsace (then part of the German Empire), a young boy named “Joey” Meister is teasing a rabid dog.
Genomics Justice League
At the end of the last millennium, the human genome sequence became an emblem of a struggle for justice. Public scientists from around the world fought off efforts to privatize the human genome.
Getting Personal
I “I’m 31. How on earth did this happen?” My older brother Bryan sat up; his eyes were dazed after a restless night in the hospital. As Bryan lifted his arm to scratch his head, I could see the bruising on his wrist from the cardiac catheter. “I feel so much better,” he said. He showed me the path the balloon catheter took to a pair of coronary arteries that were 99 and 100 percent blocked, respectively. His cheerful disposition was slightly feigned. He was scared and confused.
Did We Make the Right Decision?
The question came during my visit with the parents of a little girl who had passed away two weeks before. We reviewed the results of the whole-exome sequencing, which is an analysis of the 1 to 2 percent of the genome involved in protein-coding, in search of answers for their daughter, Leah. We all knew the results had come too late, but there were lingering questions that her parents needed answers to.
Genetic Evaluation of Inpatient Neonatal and Infantile Congenital Heart Defects: New Findings and Review of the Literature
All articles published by MDPI are made immediately available worldwide under an open access license. No special permission is required to reuse all or part of the article published by MDPI, including figures and tables. For articles published under an open access Creative Common CC BY license, any part of the article may be reused without permission provided that the original article is clearly cited.
Show More
loading
Actions
Is this you?
As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.Get in touch with Benjamin
Contact Benjamin, search articles and posts on X, monitor coverage, and track replies from one place.
Learn more about Muck Rack