Results 41 to 50 of about 52,839 (293)

A structured approach to the assessment of a floppy neonate

Journal of Pediatric Neurosciences, 2016
Hypotonia in a newborn presents a diagnostic challenge for clinicians. It is an important clinical feature that may indicate an underlying systemic illness or neurological problem at the level of the central or peripheral nervous system.
Molla Imaduddin Ahmed, Mehtab Iqbal, Nahin Hussain   +2 more
doaj   +1 more source

A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia

Frontiers in Pediatrics, 2020
UDP-glucose dehydrogenase (UGDH) encodes an oxidoreductase that converts two successive oxidations of UDP-glucose to produce UDP-glucuronic acid, a key component in the synthesis of several polysaccharides such as glycosaminoglycan and the disaccharide ...
Kheloud M. Alhamoudi, Javaid Bhat, Marwan Nashabat, Masheal Alharbi, Yusra Alyafee, Abdulaziz Asiri, Muhammad Umair, Majid Alfadhel, Majid Alfadhel   +8 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Deletion of Prepl Causes Growth Impairment and Hypotonia in Mice [PDF]

, 2014
Genetic studies of rare diseases can identify genes of unknown function that strongly impact human physiology. Prolyl endopeptidase-like (PREPL) is an uncharacterized member of the prolyl peptidase family that was discovered because of its deletion in ...
John Creemers, Saghatelian, Alan, James W. Horner (528999), Anna Mari Lone, Creemers, John, Amanda K McFedries, Mathias Leidl, James W Horner, Anna Mari Lone (435323), Lone, Anna Mari, Alan Saghatelian, Alan Saghatelian (105846), Mathias Leidl (528997), McFedries, Amanda K., Horner, James W., Amanda K. McFedries (528998), McFedries, Amanda, Leidl, Mathias, John Creemers (529000)   +18 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

The research of the state of muscular tone for children of first-year of life with the delay of motive development [PDF]

Pedagogìka, Psihologìâ ta Mediko-bìologìčnì Problemi Fìzičnogo Vihovannâ ì Sportu, 2010
Purpose: to ground the necessity of normalization of muscular tone for the children of first-year of life with the delay of motive development by facilities of physical rehabilitation. As a result of application of the developed program of early physical
Nagorna O. B.
doaj  

Vitamin B12 deficiency: case report and review of literature

The Pan African Medical Journal, 2021
Vitamin B12 deficiency in early childhood is an important cause of neurodevelopmental delay and regression. Most of these cases occur in exclusively breast-fed infants of deficient mothers.
Brahim El Hasbaoui, Nadia Mebrouk, Salahiddine Saghir, Abdelhkim El Yajouri, Rachid Abilkassem, Aomar Agadr   +5 more
doaj   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

A Rare Cause of Hypotonia: 49,XXXXX (Pentasomy X)

The Journal of Pediatric Academy, 2023
Pentasomy X syndrome is a very rare sex chromosome numerical anomaly of unknown frequency. The karyotype consists of 49,XXXXX. Musculoskeletal, craniofacial, cardiac, and kidney anomalies accompany psychomotor developmental delays. This report describes,
Kübra Aydoğan, Selcan Öztürk, Munis Dündar, Hakan Gümüş, Çetin Saatçi, Hüseyin Per   +5 more
doaj   +1 more source

Neonatal hypotonia and neuromuscular conditions

, 2019
The differential diagnosis of neonatal hypotonia is a complex task, as in newborns hypotonia can be the presenting sign of different underlying causes, including peripheral and central nervous system involvement and genetic and metabolic diseases.
Claudia Brogna, Maria Carmela Pera, Pera, Maria Carmela, Eugenio Mercuri, Brogna, Claudia, Mercuri, Eugenio   +5 more
core   +1 more source