Results 71 to 80 of about 4,566,680 (308)

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

The effect of mother’s and infant nutrition on functional constipation in children between 1-4 months

Trends in Pediatrics
Objective: Constipation is the infrequent and painful passage of hardened stools, occurring less than three times a week, often accompanied by excessive straining and discomfort.
Gülberat Totur, Maşallah Baran
doaj   +1 more source

An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

Annals of Neurology, EarlyView.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +1 more source

Altered Primary Somatosensory Neuron Development in a Pten Heterozygous Model for Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by deficits in social interactions, repetitive behaviors, and hyper‐ or hyposensitivity to sensory stimuli. The cellular mechanisms underlying the emergence of abnormal sensory sensitivity in ASD are not fully understood.
Alejandra Fernandez, Nick Sarn, Charis Eng, Kevin M. Wright   +3 more
wiley   +1 more source

The Aging Gut–Brain Axis: Effects of Dietary Polyphenols and Metal Exposure

Chronic Diseases and Translational Medicine, EarlyView.
The influence of gut microbiota on brain health ABSTRACT Diet provides essential metals, which are required for the growth, development, and well‐functioning of the body. Nonetheless, some natural and human activities add toxic heavy metals to the diet, consequently introducing them to our bodies, resulting in several disorders and death. The intestine,
Luqi Cao, Saurabh Kumar Jha, Neha Gupta, Xiang Chen, Renuka Soni, Luoxi Yuan, Rashi Srivastava, Zhe‐Sheng Chen   +7 more
wiley   +1 more source

Experience of application of modern laxatives at treatment of functional constipation at adults

Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2010
Aim of investigation. To estimate efficacy and tolerability of Forlax® in non-interventional observation study as laxative agent at short-term constipation for achievement of one-time laxative effect and at long course treatment of functional chronic ...
Ye. K. Baranskaya
doaj  

Relative Bioavailability, Food Effect, and Bioequivalence Studies to Assess a New Zanubrutinib 160‐mg Tablet: Results From 2 Phase 1 Studies in Healthy Volunteers

Clinical Pharmacology in Drug Development, EarlyView.
Abstract Zanubrutinib is a next‐generation Bruton tyrosine kinase inhibitor approved for treating B‐cell malignancies. Two phase 1 studies evaluated a new 160‐mg zanubrutinib tablet versus 80‐mg capsules. In study BGB‐3111‐115 (n = 43), a randomized 3‐period crossover trial, relative bioavailability and food effects were assessed.
Bilal Tariq, Chester Lin, Vaibhav Mundra, Yang Gao, Dan Zhang, Ying C. Ou   +5 more
wiley   +1 more source

Safety, Pharmacokinetics, and Pharmacodynamics of Osivelotor for Sickle Cell Disease: First‐in‐Human Studies in Healthy Participants and Patients

Clinical Pharmacology &Therapeutics, EarlyView.
The investigational agent osivelotor, a small molecule hemoglobin (Hb) modifier in development for the treatment of sickle cell disease (SCD), acts by increasing Hb‐oxygen affinity and inhibiting the polymerization of sickle Hb. We report safety, pharmacokinetic (PK), and pharmacodynamic (PD) data from the first two phase 1 clinical trials of ...
Eleanor A. Lisbon, R. Clark Brown, Andrew Redfern, Ken Duchin, Aline Barth, Erika S. Roberts, Polo Gaputan, Kobina Dufu, Arthur Lo, Mira Patel Pochron, David R. Archer, Wai Chin, Karena Kong, Carla B. Washington, Adeyemi Adenola, Eric I. Zimmerman   +15 more
wiley   +1 more source

The Prevalence and Burden of Avoidant/Restrictive Food Intake Disorder (ARFID) Symptoms in the Adult General Population of the UK and USA

International Journal of Eating Disorders, EarlyView.
ABSTRACT Introduction Avoidant/Restrictive Food Intake Disorder (ARFID) is a feeding and eating disorder characterized by avoidant/restrictive eating behaviors that lead to medical and/or functional impairments. While ARFID is increasingly recognized within pediatric populations and specialist clinics, data on its prevalence and burden within the adult
Grace Brownlow, Rosie Flack, Helen Burton‐Murray, Olafur Palsson, Imran Aziz   +4 more
wiley   +1 more source