Results 111 to 120 of about 90,976 (257)
Hui Lv,1,2,* Shujie Yang,1,* Yuxi Zhang,1 Yingyue Wang,3 Lijiang Zhang,1 Jingjing Wang,1 Hui Jiang1 1Institutes of Health Central Plains, Xinxiang Medical University, Xinxiang, Henan Province, People’s Republic of China; 2The First Affiliated ...
Lv H +6 more
doaj
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia +6 more
wiley +1 more source
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
From Describing Family Caregiver Burden to Developing Supportive Solutions. [PDF]
Gemperli A.
europepmc +1 more source
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
Determinants of caregiver burden in advanced Parkinson's disease: a multidimensional and sex-sensitive perspective. [PDF]
Culicetto L +10 more
europepmc +1 more source
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
Exploring Loneliness in Family Caregiver-Care Recipient Dyads: Implications for Caregiver Burden. [PDF]
Sung P, Chan A.
europepmc +1 more source
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington +2 more
wiley +1 more source
ABSTRACT Robust measurement of disadvantage is essential to identifying and addressing inequities in children's development. We tested how a multidimensional framework of child disadvantage performed relative to a traditional socioeconomic position (SEP) approach to predict developmental outcomes.
Wei Hong +7 more
wiley +1 more source

