De Novo Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.

Actin molecules are fundamental for embryonic structural and functional differentiation; γ-actin is specifically required for the maintenance and function of cytoskeletal structures in the ear, resulting in hearing. Baraitser-Winter Syndrome (B-WS, OMIM #243310, #614583) is a rare, multiple-anomaly genetic disorder caused by mutations in either cytoplasmically expressed actin gene, (β-actin) or (γ-actin). The resulting actinopathies cause characteristic cerebrofrontofacial and developmental traits, including progressive sensorineural deafness.

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.

KBG syndrome is a neurodevelopmental autosomal dominant disorder characterized by short stature, macrodontia, developmental delay, behavioral problems, speech delay and delayed closing of fontanels. Most patients with KBG syndrome are found to have a mutation in the gene or a chromosomal rearrangement involving this gene. We hereby present clinical evaluations of 23 patients aged 4 months to 26 years manifesting clinical features of KBG syndrome.

Secular trends in body height, body weight, BMI and fat percentage in Polish university students in a period of 50 years.

Objectives: The aim of the study was to determine changes in the magnitude and direction of secular trends in body height, body weight, body mass index (BMI) and fat percentage in university students from a university of technology and a university of physical education in a period of 50 years.

Methods: The data were derived from the examinations of male students from the Warsaw University of Technology, conducted four times, in 1959, 1971, 1994, 2011, and male students from the Józef Piłsudski University of Physical Education in Warsaw, who were examined in 1963, 1972, 1996, and 2012. Body height, body weight and thickness of 2 skinfolds (triceps skinfold and abdomen skinfold) were measured.