Results 221 to 230 of about 132,394 (310)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

The Spine is the Tree of Life: A Systematic Review and Meta-Analysis of the Radiographic Findings Related to Spinal Injuries in Athletes. [PDF]

Cureus
Ekhator C, Bellegarde SB, Nduma BN, Qureshi MQ, Fonkem E.   +4 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

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

Australian 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, Kate D'Cruz, Mark Brown, Jacinta Douglas, Dianne Winkler   +4 more
wiley   +1 more source

Incidence, prevalence, and causes of spinal injuries in China, 1990-2019: Findings from the Global Burden of Disease Study 2019. [PDF]

Chin Med J (Engl)
Liu C, Xu T, Xia W, Xu S, Zhu Z, Zhou M, Liu H.   +6 more
europepmc   +1 more source

Scalp electroacupuncture targeting trigeminal nerve activation alleviates post‐traumatic stress disorder–induced depression and neuroinflammation in mice

Animal Models and Experimental Medicine, EarlyView.
Scalp electroacupuncture (SA) through activation of the trigeminal pathway exerts anti‐inflammatory, antidepressant, and anxiolytic effects in an animal model of post‐traumatic stress disorder induced by single prolonged stress. This suggests that SA is involved in neuroinflammation and changes in brain‐derived neurotrophic factor protein through the ...
Bombi Lee, Yoongeun Kim, Hyungjun Kim, Dae‐Hyun Hahm   +3 more
wiley   +1 more source

Wegener's granulomatosis with subcutaneous nodules

Indian Journal of Rheumatology, 2008
AN Malaviya, S Kapoor, S Garg, P Chopra
doaj   +1 more source

Epidemiological Study of Traumatic Brain and Spinal Injuries in a Pediatric Population: A One-Year Analysis of Prevalence, Causes and Trends. [PDF]

Cureus
Todorov S, Petrov PP, Kirovakov Z, Penchev P.   +3 more
europepmc   +1 more source

Nonoperative treatment of traumatic spinal injuries in Tanzania: who is not undergoing surgery and why? [PDF]

Spinal Cord, 2020
Lessing NL, Lazaro A, Zuckerman SL, Leidinger A, Rutabasibwa N, Shabani HK, Härtl R.   +6 more
europepmc   +1 more source

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source