Results 111 to 120 of about 56,492 (266)

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Spatially resolved mapping of histones reveals selective neuronal response in Rett syndrome

The FEBS Journal, EarlyView.
Loss of Mecp2 function is associated with Rett syndrome (RTT). MeCP2 regulates chromatin, yet its influence on histone composition and dynamics is unclear. Combining MALDI‐MSI with LCM–LC–MS/MS, we mapped histone proteoforms across the dentate gyrus, cornu ammonis, and cerebellum in two mouse models of RTT.
Frederike Schäfer, Giuseppina De Rocco, Moritz Völker‐Albert, Ignasi Forne, Nicoletta Landsberger, Axel Imhof, Shibojyoti Lahiri   +6 more
wiley   +1 more source

Low oxygen content as a potential risk factor for scoliosis: a school-based cross-sectional study. [PDF]

Front Public Health
Hao J, Zhang L, Zhao Z, Wang Y, Zhe S, Gao F, Li T, Shi Z.   +7 more
europepmc   +1 more source

Pejerrey (Odontesthes bonariensis) Under Siege: Main Infectious Diseases and Their Role in Aquaculture and Wild Populations Amidst Environmental Change

Journal of Fish Diseases, Volume 48, Issue 4, April 2025.
ABSTRACT The pejerrey (Odontesthes bonariensis) is a key species for recreational and commercial fisheries in Argentina and holds significant aquaculture potential. It has been introduced to various countries worldwide, including Japan, where intensive aquaculture has developed.
Aarón Torres‐Martínez, Miguel Mancini, Fabian Grosman, Gustavo Manuel Somoza, Carlos Augusto Strüssmann   +4 more
wiley   +1 more source

Koala Kyphoscoliosis: Radiographic and CT Features of Abnormal Vertebral Column Curvature in Koalas (<i>Phascolarctos cinereus</i>) of the Mount Lofty Ranges, South Australia. [PDF]

Animals (Basel)
Eddy S, Boardman WSJ, Stacy M, Woolford L, Huizing X, Turner R, Beale C, Speight N.   +7 more
europepmc   +1 more source

Exploring Parents' Values in Healthcare Decision‐Making for Rare Genetic Neurodevelopmental Disorders: A Qualitative Study to Inform Guideline Development

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders associated with intellectual disabilities can be complex and value‐laden, in which parents often play a central role. To ensure that clinical practice guideline recommendations align with the perspectives of parents, it is essential to ...
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

Clinical Evaluation of ChatGPT-5.3 Responses to Patient-Oriented Questions on Scoliosis: A Multidimensional Expert Analysis. [PDF]

Healthcare (Basel)
Doran M.
europepmc   +1 more source

Full‐Spectrum Medicinal Cannabis Plant Extract 0.08% THC (NTI164) Improves Symptoms of Rett Syndrome: An Open‐Label Study

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim The aim of this Phase I/II open‐label study was to assess the safety and efficacy of NTI164, a novel full‐spectrum medicinal cannabis plant extract 0.08% Δ‐9‐tetrahydrocannabinol (THC), in Rett syndrome (RTT). Methods Eleven female participants (5–16 years) with a pathogenic variant in the MECP2 gene were recruited to this study, receiving
B. A. Keating, Y. Ogru, T. G. Duthy, L. Douglas, K. Lichkus, E. Isikgel, M. C. Fahey, C. Ellaway   +7 more
wiley   +1 more source

Humeroradioulnar Synostosis in a Patient with Underlying Congenital Scoliosis: A Case Report. [PDF]

J Orthop Case Rep
Small T, Kahwaty S, Stall A.
europepmc   +1 more source

Growth, Feeding and Nutrition in Rett Syndrome: Retrospective Audit of Twenty Years' Experience From an Australian Multidisciplinary Management Clinic

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim This study reviewed the nutritional status, feeding skills, safety, and management of patients with Rett syndrome during childhood and adolescence. Method Retrospective chart review of 103 females with classical Rett syndrome, aged ≤ 18 years, attending a Rett syndrome Multidisciplinary Management clinic in a tertiary hospital from 2000 to
Susan Thompson, Toni Bird, Gloria Tzannes, Carolyn Ellaway   +3 more
wiley   +1 more source