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Magnetic Resonance Imaging of Gastric Motility in Conscious Rats.
Neurogastroenterol Motil
December 2024
Department of Biomedical Engineering, University of Michigan, Ann Arbor, Michigan, USA.
Introduction: Gastrointestinal (GI) magnetic resonance imaging (MRI) enables simultaneous assessment of gastric peristalsis, emptying, and intestinal filling and transit. However, GI MRI in animals typically requires anesthesia, which complicates physiology and confounds interpretation and translation to humans. This study aimed to establish GI MRI in conscious rats, and for the first time, characterize GI motor functions in awake versus anesthetized conditions.
View Article and Find Full Text PDFCase report: Multiple approach analysis in a case of clinically assessed myotonia congenita.
Front Genet
December 2024
Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in that encodes the major skeletal muscle chloride channel, ClC-1. This channel is important for the normal repolarization of muscle action potentials and consequent relaxation of the muscle, and its dysfunction leads to impaired muscle relaxation after voluntary or evoked contraction and muscle stiffness. More than 300 pathogenic variants have been found in association with congenital myotonia, inherited as recessive or dominant traits (with complete or incomplete penetrance).
View Article and Find Full Text PDFAnorectal manometry and urodynamics in children with spina bifida: can we predict the colonic dysmotility from bladder dysfunction?
BMC Urol
December 2024
Department of Pediatric Surgery, Faculty of Medicine, Istanbul Medeniyet University, Goztepe Prof. Dr. Suleyman Yalcin City Hospital, Istanbul, Türkiye, Turkey.
Introduction: Spina bifida is a condition that impacts the development of the neural tube leading to urological and gastrointestinal symptoms. Both systems are influenced together due to their shared innervation and embryological origin. Despite its impact on health and well-being there has been limited research on the relationship between manometry results and urodynamic tests, in this patient population.
View Article and Find Full Text PDFIntragastric administration of short chain fatty acids greatly reduces voluntary ethanol intake in rats.
Sci Rep
November 2024
Center for Regenerative Medicine, Faculty of Medicine Clínica Alemana-Universidad del Desarrollo, Avenida Plaza 680, Santiago, Chile.
Alcohol use disorder (AUD) represents a public health crisis with few FDA-approved medications for its treatment. Growing evidence supports the key role of the bidirectional communication between the gut microbiota and the central nervous system (CNS) during the initiation and progression of alcohol use disorder. Among the different protective molecules that could mediate this communication, short chain fatty acids (SCFAs) have emerged as attractive candidates, since these gut microbiota-derived molecules have multi-target effects that could normalize several of the functional and structural parameters altered by chronic alcohol abuse.
View Article and Find Full Text PDFThe possible association of two novel heterozygous GNB1 variants with obesity and metabolic disorders.
Hormones (Athens)
November 2024
University General Hospital of Patras, University of Patras, Patras, Greece.
Article Synopsis
- Variants in the GNB1 gene are linked to intellectual development disorders and can lead to a range of symptoms including developmental delays, hypotonia, seizures, and psychiatric issues, as well as multisystem disorders affecting hearing, vision, and growth.
- The study presents two pediatric cases with novel GNB1 gene variants: one 12-year-old girl with a history of hypotonia and obesity, and one 2-year-old girl with severe failure to thrive and congenital hypothyroidism, both showing significant health challenges.
- The findings suggest that GNB1 gene variations can result in diverse symptoms and may be important in understanding severe early onset obesity and other related metabolic and endocrine disorders.
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