Results 171 to 180 of about 48,003 (331)

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

open access: yesClinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot   +13 more
wiley   +1 more source

Peroral endoscopic myotomy in spastic esophageal disorders: Clinical outcomes and optimal approaches

open access: yesDigestive Endoscopy, EarlyView.
Objectives The efficacy and safety of peroral endoscopic myotomy (POEM) for spastic esophageal disorders (SED), including type III achalasia, distal esophageal spasm (DES), and jackhammer esophagus (JE), remain uncertain due to its rarity. This study aimed to evaluate the clinical outcomes and optimal strategies for managing SED.
Tetsuya Tatsuta   +15 more
wiley   +1 more source

Mobility device use in children with cerebral palsy

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Abstract Aims To quantify the number and types of mobility devices used by children with cerebral palsy (CP) and explore the relationships between Gross Motor Functional Classification System (GMFCS) level, age, insurance, income, and number and types of devices. Method This was a secondary analysis of a cohort from a larger randomized controlled trial.
Elizabeth Maus   +2 more
wiley   +1 more source

Interrater Reliability of the Modified Tardieu Scale in the Assessment of Muscle Spasticity in Stroke Patients

open access: yesJournal of Rehabilitation, 2008
Objective: Spasticity is one component of the upper motor neurone syndrome, which is characterised by a velocity dependent increase in the tonic stretch reflexes.
Nouroddin Nakhostin-Ansari   +6 more
doaj  

Treatment of spasticity of the intrinsic muscles of the fingers

open access: yesAnnals of Physical and Rehabilitation Medicine, 2014
C. Leclercq, M. Gras
openaire   +2 more sources

Respiratory admissions and impact of COVID‐19 lockdowns for children with severe cerebral palsy

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
In a population cohort of children with severe cerebral palsy, there was a reduced frequency of hospitalization for respiratory illness during periods of restricted social contact, implemented to reduce transmission of COVID‐19. This mirrored trends in the wider population and underlines the importance of community viral transmission in these children.
Susan M. Reid   +9 more
wiley   +1 more source

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