Results 111 to 120 of about 101,269 (365)

Ventricular premature complexes [PDF]

Annaly aritmologii, 2015
O.L. Bockeria, T.N. Kanametov
openaire   +3 more sources

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Electrical Storms in Brugada Syndrome: Review of Pharmacologic and Ablative Therapeutic Options [PDF]

, 2005
Electrical storm occurring in a patient with the Brugada syndrome is an exceptional but malignant and potentially lethal event. Efficient therapeutic solutions should be known and urgently applied because of the inability of usual antiarrhythmic means in
Haïssaguerre, M, Hocini, M, Maury, P
core   +2 more sources

Prognostic significance of exercise-induced premature ventricular complexes: a systematic review and meta-analysis of observational studies [PDF]

, 2017
BACKGROUND: Exercise-induced premature ventricular complexes (EI-PVCs) are common during exercise stress tests. Their optimal management and prognostic significance remain uncertain.
Lambiase, P, Lee, V, Perera, D
core   +2 more sources

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

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

Holter Monitor Rhythm Parameters in Healthy Infants, Children, and Adolescents: Defining Reference Limits With Meta‐Analysis

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Ambulatory electrocardiography has been in clinical use for 5 decades. However, reference limits for rhythm parameters in healthy infants, children, and adolescents have not been adequately defined.
James J. Joyce, Soujanya Bogarapu, Collins Odhiambo, Sunita J. Ferns, Harold L. Kennedy   +4 more
doaj   +1 more source

Big Data Based Extraction of Fuzzy Partition Rules for Heart Arrhythmia Detection: a Semi-Automated Approach [PDF]

, 2016
In this paper, we introduce a novel method to define semi-automatically fuzzy partition rules to provide a powerful and accurate insight into cardiac arrhythmia. In particular, we define a text mining approach applied to a large dataset consisting of the
Casillas, Chen, Gacto, Guillaume, Guillaume, Hosseini, Liu, Manning, Meau, Moody, Pan, Piotrkiewicz, Raghupathi, Raghupathi, Rumelhart, Schönbauer, Soheilykhah, Yu   +17 more
core   +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

T. rex cognition was T. rex‐like—A critical outlook on diverging views of the neurocognitive evolution in dinosaurs

The Anatomical Record, EarlyView.
Abstract A recent debate has emerged between Caspar et al. (2024) and Herculano‐Houzel (2023) on inferring extinct dinosaur cognition by estimating brain neuron counts. While thought‐provoking, the discussion largely overlooks the function of cognition, as well as partly neglects the difficulties involved in estimating neuron numbers, which according ...
Thomas Rejsenhus Jensen, Ivo Jacobs, Kristina Kverková, Lona Lalić, Alexandra Polonyiová, Patrik Stehlík, Stephan A. Reber, Mathias Osvath   +7 more
wiley   +1 more source