Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review
Movement Disorders Clinical Practice, EarlyView.Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes +6 more
wiley +1 more source
Evaluation of respiratory muscle strength in individuals having Down syndrome
O Mundo da Saúde, 2015 As a result of muscle changes caused by the generalized hypotonia found in individuals with Down syndrome (DS), these subjects develop changes in respiratory muscle strength. The objective of the study was to assess respiratory muscle strength (RMS) of
Fernanda Roseane Furlan +3 more
doaj
Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner +11 more
wiley +1 more source
A muscular hypotonia-associated STIM1 mutant at R429 induces abnormalities in intracellular Ca2+ movement and extracellular Ca2+ entry in skeletal muscle [PDF]
, 2019 Jun Hee Choi +6 more
openalex +1 more source
Pediatric Investigation, EarlyView.Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source
VIEW, EarlyView.We present ChitoSilkBioPatch, a maleimide‐functionalized chitosan/dACM hydrogel integrated with a stretchable nanopatterned silk mesh to provide intrinsic, antibiotic‐free antibacterial activity and bioactive wound support. The scaffold eliminates S. aureus and P.
Dorsa Dehghan‐Baniani +12 more
wiley +1 more source
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia [PDF]
, 2012 Radek Szklarczyk +15 more
openalex +1 more source
Bleeding Disorders in Children With Genetic Diseases: A Narrative Review
Acta Paediatrica, EarlyView.ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol +6 more
wiley +1 more source
Midwives' Physiological Approach at the Third Stage of Labour: A Scoping Review
Birth, EarlyView.Midwives play a crucial role in supporting a physiological third stage of labour by balancing trust in the woman's body with safety measures to prevent postpartum haemorrhage. This scoping review identifies key midwifery practices that promote natural placenta and highlights the importance of undisturbed, woman‐centred care.
Elena Tarlazzi +9 more
wiley +1 more source
Adult Survival in SMA Type 1: A 23-Year Journey With Home Ventilation and Multidisciplinary Support. [PDF]
Clin Case RepDiffuse brain atrophy and calvarial hyperostosis in a long‐term survivor of very early onset SMA type 1. ABSTRACT Spinal muscular atrophy (SMA) type 1 is a severe autosomal recessive neuromuscular disorder caused by loss‐of‐function variants in the SMN1 gene, typically leading to death within the first two years without intervention. Long‐term survival
Camelo-Filho AE +4 more
europepmc +2 more sources