Results 131 to 140 of about 52,908 (304)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Comprehensive Cardiac Monitoring and Early Intervention in a Patient with Hypertension Using Smartphone-based Portable Electrocardiogram

Journal of Indian College of Cardiology
Cardiovascular diseases pose significant global health challenges, necessitating effective early detection and management strategies. Smartphone-based portable electrocardiogram (ECG) devices offer a promising solution by enabling convenient, real-time ...
Yogendra Singh, C. B. Pandey, Shashank Pandey, Nitin Chandola, Deeksha Agarwal   +4 more
doaj   +1 more source

Back Again to the Future: A New Era for Cerebroprotection

Annals of Neurology, EarlyView.
Cerebroprotection is a fresh framework for designing neurological therapy that targets glia and vascular cells, in addition to neurons. In the future, successful cerebroprotection will involve targeting all elements of the neurovascular unit. Preclinical trials must include functional outcomes, as well as lesion morphometry.
Patrick Lyden
wiley   +1 more source

Role of Diet as a Predisposing Factor for Dilated Cardiomyopathy in Dogs: A Narrative Review

Veterinary Sciences
In 2018, the Food and Drug Administration (FDA) reported cases of dilated cardiomyopathy (DCM) in dogs, including breeds without known genetic predisposition, fed diets containing a high proportion of legumes or potatoes, many labeled grain-free. Despite
Léa Mornard, Anna Carolina Massara Brasileiro, Mário Marcondes-Santos   +2 more
doaj   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

The effects of premature ventricular complex ablation on cardiac repolarization; evaluation of changes in the frontal QRS-T angle

Europace
Abstract Aims and Goals Premature ventricular complex (PVC) is one of the most common arrhythmias in the general population, and may cause cardiomyopathy in some individuals. Although this condition, called PVC induced cardiomyopathy, does not develop in every individual; current literature on which ...
Uzun, M H, Kuyumcu, M S, Ozgeyik, M, Dural, I E, Gokaslan, S   +4 more
openaire   +1 more source

Severe, Non‐apneic Respiratory Dysfunction and Hypoxia following Generalized Convulsive Seizures

Annals of Neurology, EarlyView.
Objective Sudden unexpected death in epilepsy (SUDEP) is a devastating consequence of some generalized convulsive seizures (GCS). Recent work has focused on seizure related apnea as a biomarker of SUDEP risk, frequently without characterizing the adequacy of non‐apneic ventilation or identifying other dysfunctional breathing patterns.
Haley E. Pysick, Rup K. Sainju, Roshni Nair, Deidre N. Dragon, Eduardo Bravo, Laura Vilella, Xiaojin Li, Samden D. Lhatoo, George B. Richerson, Brian K. Gehlbach   +9 more
wiley   +1 more source

Cardiac and metabolic effects in patients who present with a multinodular goitre [PDF]

, 2003
Twenty-six consecutive patients who presented with clinically euthyroid multinodular goitre were studied for an overnight fasting serum lipid profile and 24 h Holter monitoring.
Berghout, A. (Arie), Klootwijk, A.P.J. (Peter), Wetering, J. (Jacqueline) van de   +2 more
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