Results 211 to 220 of about 3,882,814 (300)

Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of “Incompatibility With Life” in a South African and Low‐and Middle‐Income Country Context

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as “lethal” or “incompatible with life,” contributing to diagnosis‐based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac ...
H. L. Malherbe   +9 more
wiley   +1 more source

Beyond Pain: Redefining Rehabilitation in Complex Regional Pain Syndrome. [PDF]

open access: yesJ Orthop Case Rep
Deshpande S, Kale S, Pandit U, Shyam A.
europepmc   +1 more source

From Cognitive Processing to Daily Functioning: Language, Visuomotor Integration, and Adaptive Behavior in Children With Coffin‐Siris Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Studying Mendelian neurodevelopmental disorders (NDDs) from a bottom‐up perspective, in which neurocognitive functioning is conceptualized as a mediator between genotype and behavioral phenotype, may facilitate early identification of syndrome‐specific vulnerabilities.
Myrthe R. M. Kamphof   +3 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

Implementation of a complex intervention for hip fracture care: a protocol for an embedded mixed-methods process evaluation of a multicentre cluster randomised trial in India, Nepal, the Philippines, Thailand and Vietnam. [PDF]

open access: yesBMJ Open
Armstrong E   +22 more
europepmc   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom   +5 more
wiley   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi   +20 more
wiley   +1 more source

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