Results 61 to 70 of about 65,633 (254)

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha   +6 more
wiley   +1 more source

Expanded characterization of the valproic acid zebrafish larval model of autism spectrum disorder: Insights into dysregulation in the gut

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Meticulous calculation of zebrafish‐equivalent therapeutic valproic acid (VPA) dosage maximized the translational value of the data. Hyposerotonergic tone underpinned an anxiety‐like outcome as a core symptom of autism spectrum disorder (ASD). Compartment‐specific dopaminergic and serotonergic dysregulation in the brain versus gut provided mechanistic ...
Lesha Pretorius   +3 more
wiley   +1 more source

The Diagnostic Accuracy of Abdominal X-ray in Childhood Constipation: A Systematic Review of the Literature

open access: yesGastrointestinal Disorders
Background: Previous systematic reviews have found insufficient and conflicting evidence for an association between the clinical and radiographic diagnosis of functional constipation.
David Avelar Rodriguez   +4 more
doaj   +1 more source

Blood pressure effects of SGLT2 inhibitors and GLP‐1 receptor agonists: Mechanisms, trial evidence and Real‐world data

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
SGLT2 inhibitors and GLP‐1 receptor agonists modestly lower blood pressure across diverse patient populations, including those without diabetes. These effects appear largely independent of glycaemic control and offer additive value in high‐risk patients with overlapping comorbidities.
Andrej Belančić   +7 more
wiley   +1 more source

Pediatric Functional Constipation: A New Challenge

open access: yesAdvanced Gut & Microbiome Research
Functional constipation is a common gastrointestinal disorder worldwide in children, adolescents, and adults. Functional constipation is persistent, difficult, and infrequent hard stooling with incomplete rectal emptying that does not have an ...
Samina Khan Bashir, Muhammad Bashir Khan
doaj   +1 more source

Constipation in childhood and adolescent age [PDF]

open access: yesSrpski Arhiv za Celokupno Lekarstvo
Constipation is a common problem in childhood and adolescence. It occurs as a functional (primary or idiopathic) disorder or as part of various pathological conditions that compromise intestinal emptying. In 90–95% of cases, constipation in childhood and
Radlović Vladimir   +6 more
doaj   +1 more source

Gabapentin as an add‐on analgesic to morphine in paediatric patients with chronic pain

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Aims Off‐label use of gabapentin for the treatment of chronic pain in children has increased over the last decade, with multiple clinical trials evaluating its role pain management and potential opioid‐sparing effects. To date, however, these studies appear to rely on empirical evidence without further consideration of pharmacokinetic‐pharmacodynamic ...
Paul Healy   +15 more
wiley   +1 more source

Histamine and the mechanisms of nausea and vomiting: Translating the uncertain pharmacology of cyclizine

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Abstract Cyclizine is a long‐established, short‐acting drug, registered for preventing motion sickness, post‐operative nausea and vomiting (PONV) and ‘vomiting of known cause’. The latter is not defined but may include pregnancy and patients receiving palliative care, historically accepted without large, controlled trials.
Gareth J. Sanger, Paul L. R. Andrews
wiley   +1 more source

Validation of Parent‐Report Questionnaires for Large‐Scale Online Screening of Avoidant/Restrictive Food Intake Disorder in Children and Adolescents

open access: yesInternational Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Studies assessing the validity of screening measures for avoidant/restrictive food intake disorder (ARFID) remain scarce. We evaluated the diagnostic performance and validity of an online, parent‐reported screening approach for ARFID in a population‐based sample of children.
Diana Friskson   +6 more
wiley   +1 more source

Intestinal microbiome alterations in pediatric epilepsy: Implications for seizures and therapeutic approaches

open access: yesEpilepsia Open, EarlyView.
Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza   +4 more
wiley   +1 more source

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