Pediatr Radiol
George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
Published: May 2021
Genetic disorders are in the differential diagnosis when young children present with unexplained fractures or intracranial hemorrhage. For medical and legal reasons, it is imperative to make the correct diagnosis and provide clear, evidence-based explanations of how alternative diagnoses were ruled out. A genetics consultation in cases of suspected child physical abuse should synthesize the history of present illness, medical history, family history, physical examination, and radiologic and laboratory findings in consultation with other specialists. The medical geneticist highlights how these disorders truly present. When the natural history of a genetic disorder is understood, it becomes clear that genetic disorders are not mysterious or difficult to diagnose. As highlighted in this case-based review, mainstream medical practice allows for differentiation among the intracranial and skeletal manifestations of osteogenesis imperfecta, Menkes disease, glutaric acidemia type 1 and child physical abuse. This review also highlights how a genetic disorder, Ehlers-Danlos syndrome, can be misused in a courtroom. Finally, this review summarizes when genetic testing is appropriate in cases of suspected child physical abuse.
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http://dx.doi.org/10.1007/s00247-020-04865-0 | DOI Listing |
PLoS One
January 2025
Department of Pediatrics, China Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Introduction: Short stature is a frequent complication of DMD, and its pathomechanisms and influencing factors are specific to this disease and the idiosyncratic treatment for DMD.
Purpose: To establish the height growth curve of early DMD, and evaluate the potential influencing markers on height growth, provide further evidence for pathological mechanism, height growth management and bone health in DMD.
Methods: A retrospective, cross-sectional study of 348 participants with DMD aged 2-12 years was conducted at West China Second Hospital of Sichuan University from January 2023 to October 2023.
Medicine (Baltimore)
January 2025
Department of Traditional Chinese Medicine, Baicheng Medical College, Baicheng, Jilin Province, China.
Background: This study aimed to assess the comparative effectiveness of massage combined with lifestyle intervention and lifestyle intervention alone in patients with simple obesity.
Methods: The PubMed, Embase, Cochrane Library, CNKI, VIP Database, and Wanfang Data were searched. Meta-analysis was conducted in accordance with the 2020 Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines.
Sci Adv
January 2025
Center for Physical Genomics and Engineering, Northwestern University, Evanston, IL 60208, USA.
In single cells, variably sized nanoscale chromatin structures are observed, but it is unknown whether these form a cohesive framework that regulates RNA transcription. Here, we demonstrate that the human genome is an emergent, self-assembling, reinforcement learning system. Conformationally defined heterogeneous, nanoscopic packing domains form by the interplay of transcription, nucleosome remodeling, and loop extrusion.
View Article and Find Full Text PDFHealthcare (Basel)
December 2024
Department of Social and Behavioural Sciences, City University of Hong Kong, Kowloon, Hong Kong.
: Transitional attachment objects, such as blankets, play a critical role in childhood by helping children manage separation anxiety and regulate emotions. Although attachment to these objects often decreases as children grow older, it may persist into adulthood and influence emotion regulation and stress responses. Their influence on emotion regulation in adulthood remains uncertain.
View Article and Find Full Text PDFHealthcare (Basel)
December 2024
Respiratory Research and Rehabilitation Laboratory (Lab3R), School of Health Sciences (ESSUA) and Institute of Biomedicine (iBiMED), University of Aveiro, Agras do Crasto-Campus Universitário de Santiago, Building 30, 3810-193 Aveiro, Portugal.
Exercise for children with cystic fibrosis leads to well-known health benefits. However, maintaining regular activity is challenging due to the daily demands of academics, clinical care, and family tasks. Home-based exercise programs offer a more adaptable alternative, fitting into family schedules.
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