Results 241 to 250 of about 745,539 (303)

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +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

General Practice Utilisation for Adults With Neurological Disability Who Are National Disability Insurance Scheme Participants in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT Most adults with neurological disability rely on general practitioners for managing and preventing health complications. This study analysed patterns of general practice service utilisation among National Disability Insurance Scheme (NDIS) participants with neurological disability and compared these with people who are not NDIS participants ...
Stacey Oliver, Robin A. Ramme, Avinash Kondiboyina, Karina Gardner, Adam McLeod, Stephen Weeding, Christopher Pearce, Jacinta Douglas, Di Winkler   +8 more
wiley   +1 more source

A mouse model of mechanical stress injury to the basal ganglia using thermosensitive PNIPAM hydrogel for intracerebral hemorrhage research

Animal Models and Experimental Medicine, EarlyView.
In this study, we established a novel mouse model of intracerebral hemorrhage (ICH) by stereotactically injecting thermosensitive PNIPAM hydrogel into the internal capsule to impose localized mechanical stress on the corticospinal tract, which provides a straightforward and reproducible tool for preclinical studies on focal mechanical stress–induced ...
Mingxi Li, Yujie Chen, Rongsu Huang, Min Xia, Chao Mi, Yuan Tian, Peiwen Guo, Taotao Jin, Shilei Hao, Hua Feng, Yujie Chen, Zhi Chen   +11 more
wiley   +1 more source

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Spinal cord injury

The Lancet, 2002
More than a decade ago, spinal-cord injury meant confinement to a wheelchair and a lifetime of medical comorbidity. The physician's armamentarium of treatments was very limited, and provision of care for individuals with spinal-cord injury was usually met with frustration.
John W, McDonald, Cristina, Sadowsky
  +9 more sources

Spinal Injuries in Sports

Physical Medicine and Rehabilitation Clinics of North America, 2008
Athletic competition has long been a known source of spinal injuries. Approximately 8.7% of all new cases of spinal cord injuries in the United States are related to sports activities. The sports activities that have the highest risk of catastrophic spinal injuries are football, ice hockey, wrestling, diving, skiing, snowboarding, rugby, and ...
Barry P, Boden, Christopher G, Jarvis
openaire   +3 more sources

Spinal Cord Injury

The Journal of Pain, 2006
Pediatric spinal cord injury remains a relatively rare condition relative to its prevalence in the adult population. However, up to 5% of spinal cord injuries occur in children. In addition, age-related biomechanical and behavioral distinctions often make the detection and treatment of spine injuries in children much more challenging than in adults (1).
Wesley L, Smeal, Robert P, Yezierski, Paul J, Wrigley, Philip J, Siddall, Mark P, Jensen, Dawn M, Ehde   +5 more
openaire   +2 more sources

Neglected Spinal Injuries

Clinical Orthopaedics & Related Research, 2005
Neglected spinal injuries secondary to overlooked diagnosis may result in serious medical and medicolegal problems. These are not uncommon but are reported infrequently in the medical literature. I studied the incidence, causes, and consequences of neglected spinal injuries and recommendations for prevention and treatment by reviewing the literature ...
openaire   +2 more sources