Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.

Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.

Individual Responses to Repeated Dosing with Anthocyanin-Rich New Zealand Blackcurrant Extract During High-Intensity Intermittent Treadmill Running in Active Males.

Unlabelled: Intake of New Zealand blackcurrant (NZBC) extract for 7 days has been shown to improve high-intensity intermittent running (HIIR) performance.

Objectives: We examined the repeat response of NZBC extract on HIIR performance.

Methods: Sixteen active males (age: 23 ± 3 yrs, height: 179 ± 5 cm, mass: 79 ± 11 kg, V˙O: 55.

Effects of New Zealand Black Currant Extract on Exercising Substrate Utilization and Postexercise Blood Pressure in Men and Women.

New Zealand black currant extract (NZBC) has been shown to increase fat oxidation during exercise and decrease the postexercise blood pressure in men and women. The change in fat oxidation by NZBC has also been shown to be correlated to body composition in men and women. There has never been a comparison of sex responses within the same study.

De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling.

Marfan syndrome (MFS) is a well-characterized rare genetic connective tissue disorder. The features of MFS are primarily skeletal, ocular, and cardiovascular and are mainly caused by single-nucleotide variants (SNVs) in the FBN1 gene (MIM#134797) located on chromosome 15q21.1.

An open-source framework for the generation of OpenSim models with personalised knee joint geometries for the estimation of articular contact mechanics.

Musculoskeletal modelling pipelines typically use generic models scaled to individual's anthropometry. The ability to represent variations in bone or joint geometry and alignment is highly limited. This may have a large effect, particularly when modelling contact between articular surfaces such as for the knee where articular contact mechanics are used to determine joint kinematics and the resulting cartilage contact pressures and locations.