Results 171 to 180 of about 122,871 (298)

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr   +5 more
wiley   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan   +13 more
wiley   +1 more source

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source

Intraoperative Ultrasound Imaging Features Guiding Surgical Strategy in Spinal Cord Ependymoma Resection. [PDF]

open access: yesNeurosurg Pract
Ramirez-Ferrer E   +11 more
europepmc   +1 more source

‘Hurry Up and Get Me out of Here’: The Experience of People Under 65 Years (Still) Stuck in Aged Care

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Following the Royal Commission into Aged Care Quality and Safety, the Australian Government set a target for no‐one under 65 years of age to be living in residential aged care (RAC) by 2025. The numbers of young people in residential aged care (YPIRAC) have significantly declined since the start of the targets.
Elroy Dearn   +4 more
wiley   +1 more source

Comparative virology and pathology of Monkeypox virus in Syrian hamsters, C57BL/6, and BALB/c mice: A framework for preclinical model selection

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study compared monkeypox virus (MPXV) infection in three small animal models: Syrian hamsters, C57BL/6 mice, and BALB/c mice. Following intraperitoneal inoculation, Syrian hamsters exhibited the highest susceptibility, with rapid systemic viral dissemination, elevated splenic and renal viral burdens, and severe histopathological damage, followed ...
Xiaohui Wei   +9 more
wiley   +1 more source

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