Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Coffin-Siris syndrome (CSS) is a rare multisystemic autosomal dominant disorder. Since 2012, alterations in genes of the SWI/SNF complex were identified as the molecular basis of CSS, studying largely pediatric cohorts. Therefore, there is a lack of information on the phenotype in adulthood, particularly on the clinical outcome in adulthood and associated risks.

Impact of Inclination of Girders and Columns on the Effort and Stability of Flat Bar Frames.

The article describes a specific method of using innovative transverse systems of flat bar frames as structures forcing elastic shape transformations of nominally flat folded sheets into the forms of ruled shell roof coverings. An innovative method for parametric shaping these forms and arrangement of frames constituting structural systems of sheds with folded thin-walled roof coverings, taking account of the specificity of designing elastically transformed roof sheeting, was proposed. The proposed method for defining the loads of the considered frames supporting lower shelves of the folds of transformed roof sheeting, as loads distributed uniformly along the length of the upper chord of a roof frame girder, is also an innovative approach.

The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome.

Introduction: Silver-Russell syndrome (SRS) is characterized by clinical and genetic heterogeneity. SRS is the only disease entity associated with (epi)genetic abnormalities of 2 different chromosomes: 7 and 11. In SRS, the 2 most frequent molecular abnormalities are hypomethylation (loss of methylation) of region H19/IGF2:IG-DMR on chromosome 11p15.

The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation.

Background: Nijmegen breakage syndrome (NBS) is an autosomal-recessive chromosome instability disorder characterized by, among others, hypersensitivity to X-irradiation and an exceptionally high risk for lymphoid malignancy. The vast majority of NBS patients is homozygous for a common Slavic founder mutation, c.657del5, of the NBN gene, which is involved in the repair of DNA double-strand breaks (DSBs).