Results 131 to 140 of about 612,233 (251)

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

A Biweekly GLP‐1R Agonist Designed With Drug‐Free Intervals for Enhanced Efficacy, Receptor Homeostasis and Gastrointestinal Tolerability

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aim To develop a next‐generation, longer‐acting, more‐clinical‐benefits agonist to achieve sustained efficacy with improved tolerability. Methods CT130 was designed from semaglutide. Binding affinity was validated via molecular dynamics and cellular assays.
Wei Ding, Qing Liu, Qiong Luo, Xiaojun Yao, Xingxing Fan   +4 more
wiley   +1 more source

Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023

Molecular and Cellular Pediatrics
Background Cerebral creatine deficiency disorders (CCDD) are rare diseases caused by defects in the enzymes L-arginine: glycine amidinotransferase (AGAT) or guanidinoacetate-N-methyltransferase (GAMT), which are involved in synthesis of creatine; or by a
Christina Kaufman, Anaïs D’Andrea, Annette Hackenberg, Martin Poms, Olivier Braissant, Johannes Häberle   +5 more
doaj   +1 more source

Eosinophilia and Hypereosinophilia: A Practical Approach to Navigating a Broad Differential Diagnosis

European Journal of Haematology, EarlyView.
ABSTRACT Eosinophilia, defined as an absolute eosinophil count (AEC) of ≥ 0.5 × 109/L, is a frequently encountered finding with a vast spectrum of potential underlying etiologies. Hypereosinophilia (HE) is defined as AEC > 1.5 × 109/L and may become life‐threatening when eosinophil‐induced organ damage occurs, defining the hypereosinophilic syndrome ...
Stijn Wigerinck, Peter Vandenberghe
wiley   +1 more source

Creatine deficiency syndromes: biochemical and molecular aspects

, 2012
Introduction: Creatine deficiency syndromes (CDS) represent a group of inborn errors of creatine biosynthesis: L-arginine-glycine amidinotransferase - AGAT and guanidinoacetate methyltransferase - GAMT deficiencies and transport (creatine transporter ...
Vilarinho, Laura, Jacobs, Cornelis, Ramos, Altina, Valongo, Carla, Almeida, Lígia, Salomons, Gajja   +5 more
core  

Anaesthetic management of a horse with acute kidney injury

Equine Veterinary Education, EarlyView.
Summary Anaesthetic management of animals with acute kidney injuries (AKI) is complex and poses considerable risk. There are no publications describing management of anaesthetised horses with AKI. Perioperative and anaesthetic care of a Thoroughbred filly presented with traumatic injuries and subsequent AKI is described.
C. T. Quinn, K. J. Hughes, A. N. Walton
wiley   +1 more source

X-linked creatine transporter deficiency [PDF]

, 2020
openaire   +2 more sources

Chd4 and ThPOK cooperate to preserve structural and electrophysiological integrity of the adult heart through Sprr1a repression

The FEBS Journal, EarlyView.
Chd4/NuRD and ThPOK cooperate to maintain transcriptional repression and nuclear organization in adult cardiomyocytes. Chd4 loss reduces miR‐150‐5p, relieving repression of Sprr1a, while ThPOK loss further enhances Sprr1a activation, possibly through altered chromatin–lamina interactions.
Fadoua El Abdellaoui‐Soussi, Apolonia Novillo, Rocío Brea, Marta Ysbert, Lorena Cussó, Gonzalo Pizarro‐Sánchez, Manuel Desco, Iván Hernández, Ángel Luis Armesilla, Ignacio Pérez de Castro, Alicia R. Folgueras, Juan Miguel Redondo, Pablo Gómez‐del Arco   +12 more
wiley   +1 more source

[18F]FDG-PET and [18F]MPPF-PET are brain biomarkers for the creatine transporter Slc6a8 loss of function mutation

Scientific Reports
Pathogenic variants in the creatine transporter gene SLC6A8, reported to represent 2% of all intellectual disabilities in males, result in a spectrum of behavioral abnormalities including developmental delay, intellectual disability, and deficit in ...
Isabel Day, Mikayla Tamboline, Lindsay Lueptow, Irina Zhuravka, Taryn Diep, Ilona Tkachyova, Shili Xu, Andreas Schulze, Gerald S. Lipshutz   +8 more
doaj   +1 more source

AI‐Assisted Literature Mining Reveals Spatiotemporal Heterogeneity and Progression Trajectories of Traditional Chinese Medicine Syndromes in Coronary Heart Disease in China

Journal of Evidence-Based Medicine, EarlyView.
ABSTRACT Despite the centrality of syndrome differentiation in guiding personalized traditional Chinese medicine (TCM) interventions for coronary heart disease (CHD), existing studies of TCM syndrome distribution are constrained by fragmented methodologies and limited spatiotemporal resolution. In this study, we employed an artificial intelligence (AI)‐
Qianzi Che, Tian Song, Zhaoyuan Gong, Chuxuan Wang, Bin Liu, Mingzhi Hu, Ning Liang, Haili Zhang, Huizhen Li, Qingyang Zeng, Lin Chen, Yuanming Leng, Xihao Cao, Jing Wan, Jing Guo, Nannan Shi   +15 more
wiley   +1 more source