Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications.

Background: Balanced chromosomal translocations occur in approximately 0.16 to 0.20% of live births.

Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America.

Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden. The Lifetime Impact Study for Achondroplasia (LISA), aimed to assess health-related quality of life and medical resource utilization among Latin America patients with achondroplasia.

Methods: Data were collected from individuals aged 3 years and above in Argentina, Brazil, and Colombia between 2018 and 2021.

Biomechanical analysis of the snatch technique for elite and varsity weightlifters.

Understanding the importance of movement asymmetries and variations in technique proficiency across different level of weightlifters is crucial. The purpose of this study was to examine differences in joint kinematics, muscle activation, and barbell parameters between elite and varsity weightlifters during the snatch utilizing integrated 3D motion capture and EMG systems. In addition, it analyzes symmetries in joint kinematics and muscle activation in both groups.

Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.

Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder frequently linked to n.72A>G (previously known as n.70A>G and n.