CHARGE syndrome is a rare genetic disorder which can impact every sensory system and is often associated with significant medical, communicative, developmental, and behavioral difficulties. Due to the rarity and complexity of CHARGE syndrome, educators often lack the expertise required to effectively understand and accommodate the needs of these students. Therefore, an educational checklist (i.e. "Checklist") was developed to provide a comprehensive tool that educators and related professionals can utilize to aid in the education of individuals with CHARGE syndrome. The Checklist was developed through collaboration with an international panel of experts; CHARGE Syndrome Research Lab at Central Michigan University (CMU); and a select group consisting of parents, professionals, and state deafblind project employees. The Checklist outlines major CHARGE characteristics, resulting educational needs, team members, consulting professionals, and suggested methods of accommodation. The Checklist may be utilized to develop and inform services for individuals with CHARGE syndrome in the schools.
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http://dx.doi.org/10.1080/20473869.2019.1642639 | DOI Listing |
Indian Pediatr
January 2025
ICMR Regional Medical Research Centre, Gorakhpur, Uttar Pradesh, India. Correspondence to: Dr Manoj Murhekar, Director-in-Charge, ICMR-Regional Medical Research Centre, Gorakhpur, Uttar Pradesh, India 273013.
Objective: To estimate the proportion of children with acute febrile illness (AFI) attending the peripheral health facilities in Gorakhpur, Uttar Pradesh, India, due to Orientia tsutsugamushi (Ots) and re-evaluate the strategy of presumptive administration of doxycycline/azithromycin (PDA) to patients with AFI.
Methods: Children aged 2-18 years with AFI attending 16 peripheral health facilities in Gorakhpur, Uttar Pradesh, were enrolled in September 2023. Blood samples were tested for O.
Sci Rep
December 2024
Department of Nutrition, Department of Food Science and Technology, University of California, One Shields Avenue, Davis, CA, 95616, USA.
Developmental delays have been associated with metabolic disturbances in children. Previous research in the childhood autism risk from genetics and the environment (CHARGE) case-control study identified neurodevelopment-related plasma metabolites in children, suggesting disturbances in the energy-related tricarboxylic acid (TCA) cycle and 1-carbon metabolism (1CM). Here, we investigated associations between children's neurodevelopmental outcomes and their mothers' plasma metabolite profiles in a subset of mother-child dyads from CHARGE, including those with autism spectrum disorder (ASD, n = 209), Down syndrome (DS, n = 76), idiopathic developmental delay (iDD, n = 64), and typically developed (TD, n = 185) controls.
View Article and Find Full Text PDFAm J Hum Genet
January 2025
Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address:
The mitochondrial ribosome (mitoribosome) synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA, and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders and frequently show combined oxidative phosphorylation deficiency.
View Article and Find Full Text PDFInt J Surg Case Rep
December 2024
King Khaled Eye Specialist Hospital, KKESH, Riyadh, Saudi Arabia.
Introduction And Importance: Sturge Weber Syndrome (SWS) is a congenital neurocutaneous disorder that affects several organs. Abnormal ocular findings are typically on the same side as the SWS. These changes can affect various parts of the eye, including the eyelid, front chamber, cornea, choroid, and retina.
View Article and Find Full Text PDFJ Thorac Oncol
December 2024
Department of Oncology, University of Turin, S. Luigi Gonzaga Hospital, Orbassano, Turin, Italy. Electronic address:
Introduction: The advocacy Women Against Lung Cancer in Europe (WALCE) promoted the European Program for the Routine Testing of Patients With Advanced Lung Cancer (EPROPA) and provided a free-of-charge molecular profiling platform for NSCLC sample characterization with the aim of increasing the detection of targetable drivers and improving patients' access to clinical trials in Europe.
Methods: From January 2021 to December 2023, 20 centers located at five different European countries (Greece, Slovenia, Romania, Albania, and Italy) joined EPROPA, with 555 patients with advanced NSCLC registered to the program. Anonymized patients' clinical-pathological data were shared through the EPROPA web platform and tissue samples were collected at the Molecular Pathology Unit of the Reference Center (University of Turin) for molecular analyses.
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