Search

The DYNC2H1 gene has been associated with short‐rib polydactyly syndrome (SRPS), among other skeletal ciliopathies. Two cases are presented of distinctive phenotypes resulting from splicing variants in DYNC2H1. The first is a 14‐week‐old fetus with enlarged nuchal translucency, oral hamartoma, malformed uvula, bifid epiglottis, short ribs, micromelia, long bone agenesis, polysyndactyly, heart defect, pancreatic cysts, multicystic dysplastic kidney, megabladder and trident acetabulum. A ciliopathies NGS panel revealed two compound heterozygous variants in DYNC2H1: c.7840‐18T>G r.7841_7964del p.Gly2614Aspfs*5 and c.11070G>A r.11044_11116del p.Ile3682Aspfs*2. Both variants were initially classified as variants of uncertain significance but were reclassified as likely pathogenic after PCR‐based RNA testing. The second is an 11‐year‐old overweight male with multiple accessory oral frenula, median cleft lip and alveolar ridge, polysyndactyly, brachydactyly, normal rib length, and hypogonadism. Exome sequencing revealed two compound heterozygous variants in DYNC2H1: c.6315del p.(Thr2106Glnfs*7), classified as likely pathogenic, and c.3303‐16A>G p.(?), classified as a variant of uncertain significance. PCR‐based RNA testing suggested that c.3303‐16A>G induces an in‐frame deletion: r.3303_3458del p.Asp1102_Arg1153del, although the normal transcript is still produced. These results are consistent with both SRPS type I/III in the first case and orofaciodigital syndrome in the second, an unprecedented description. This work thus improves the clinical and molecular knowledge of the phenotypes associated with splicing variants in the DYNC2H1 gene. [ABSTRACT FROM AUTHOR]

Carbohydrates constitute the largest source of biomass on Earth, but their synthetic modification is challenging due to their high content in oxygen functionalities. The site‐ and stereoselective modification of native sugars is a definite goal of glycochemistry research. Recent efforts to bypass the need for protecting groups, leveraging selective activation through photochemical mechanisms for site‐selective C−C bond formation from native sugars, are likely to largely impact all glycochemistry‐related areas. Davis, Koh, and co‐workers have recently presented their use of photocatalysis to develop a "cap and glycosylate" approach for the site‐ and stereoselective C‐glycosylation of native sugars. A modernized direct radical functionalization of in situ formed thioglycoside using photocatalysis was used in the synthetic manipulation of unprotected carbohydrates. This allowed reaching complex saccharides, and post‐translational modification of proteins. [ABSTRACT FROM AUTHOR]

Recycled aggregate concrete contributes to the recovery of construction and demolition waste, which is a growing societal concern. The technical feasibility of recycled aggregate concrete has been extensively tested and validated and the revisions of codes are already including clauses for recycled aggregate concrete specification and design. However, there are still doubts regarding its structural behavior. This article assesses the suitability of Eurocode 2 design clauses for concrete elements under compression when used for recycled aggregate concrete design. This is done through the analysis of model uncertainties that are estimated from a database collected from laboratory experiments on columns. Both the current version of Eurocode 2 (with and without taking confinement into account) and the upcoming (second generation) Eurocode 2 are considered. A database was collected with clearly defined criteria and includes coarse recycled aggregates produced from concrete waste, since columns made with other types of recycled aggregates are scarcely tested and do not represent the current status for structural recycled aggregate concrete design and production. The statistics of the model uncertainty for natural and recycled concrete columns were compared and it was observed that the mean model uncertainty tends to decrease slightly when recycled aggregates are used. However, a preliminary assessment of whether a partial factor for recycled aggregate concrete compression design should be used concluded that this partial factor is not necessary to ensure reliable design and the design of columns may be carried out using the same formulae used for conventional concrete. The format proposed may be used for other resistance models, provided that the partial factor is calibrated for each resistance model. [ABSTRACT FROM AUTHOR]