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Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.
Ther Adv Respir Dis
January 2025
Division of Pulmonary and Sleep Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, 4800 Sand Point Way NE, OC 7.730, Seattle, WA 98105, USA.
Background: Joubert syndrome (JS) is an autosomal recessive disorder with a distinctive mid-hindbrain malformation known as the "molar tooth sign" which involves the breathing control center and its connections with other structures. Literature has reported significant respiratory abnormalities which included hyperpnea interspersed with apneic episodes during wakefulness. Larger-scale studies looking at polysomnographic findings or subjective reports of sleep problems in this population have not yet been published.
View Article and Find Full Text PDFDifferences in Ocular Axial Length Between Genders and Refractive Error Groups: A Cross-Sectional Study at the Yaoundé Central Hospital, Cameroon.
Cureus
December 2024
Ophthalmology, Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, CMR.
Background: Refractive errors are a common global health issue. Previous studies in Cameroon have predominantly identified hyperopia and hyperopic astigmatism as the primary refractive errors. This study aimed to determine ocular axial length (OAL) values in Cameroonian adults and to evaluate differences between genders and refractive error groups.
View Article and Find Full Text PDFDisruptive multiple cell death pathways of bisphenol-A.
Toxicol Mech Methods
January 2025
Department of Biotechnology, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India.
Endocrine-disrupting chemicals (EDCs) significantly contribute to health issues by interfering with hormonal functions. Bisphenol A (BPA), a prominent EDC, is extensively utilized as a monomer and plasticizer in producing polycarbonate plastic and epoxy resins, making it one of the highest-demanded chemicals in commercial use. This is the major component used in plastic products, including bottles, containers, storage items, and food serving ware.
View Article and Find Full Text PDFChild Neurology: Severe -Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.
Neurology
February 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.
View Article and Find Full Text PDFLongitudinal visual outcomes in idiopathic intracranial hypertension: the role of early prognostic indicators and risk stratification in disease management.
J Neurol
January 2025
Department of Neuroscience, Central Clinical School, Faculty of Medicine, Nursing and Health Science, Monash University, Melbourne, VIC, Australia.
Background: Idiopathic intracranial hypertension (IIH) is increasingly prevalent, yet longitudinal outcome data are scarce. This study aimed to characterise demographic and longitudinal clinical changes in a cohort of patients with IIH.
Methods: Retrospective cohort analysis on adult patients diagnosed with IIH (Friedman criteria) enrolled in the neuro-ophthalmology database (NODE) across two tertiary centres.
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