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MED12 is a subunit of the Mediator multiprotein complex with a central role in RNA polymerase II transcription and regulation of cell growth, development, and differentiation. This might underlie the variable phenotypes in males carrying missense variants in MED12, including X-linked recessive Ohdo, Lujan, and FG syndromes.

No Abstract.

Asymmetric rolling, in which the circumferential velocities of the upper and lower rolls are different, can give rise to intense plastic shear strains and in turn shear deformation textures through the sheet thickness. The ideal shear deformation texture of fcc metals can be approximated by the <111> // ND and {001}<110> orientations, among which the former improves the deep drawability. The ideal shear deformation texture for bcc metals can be approximated by the Goss {110}<001> and {112}<111> orientations, among which the former improves the magnetic permeability along the <100> directions and is the prime orientation in grain oriented silicon steels. The intense shear strains can result in the grain refinement and hence improve echanical properties. Steel sheets, especially ferritic stainless steel sheets, and luminum alloy sheets may exhibit an undesirable surface roughening known as ridging or roping, when elongated along RD and TD, respectively. The ridging or roping is caused by differently oriented colonies, which are resulted from the <100> oriented columnar structure in ingots or billets, especially for ferritic stainless steels, that is not easily destroyed by the conventional rolling. The breakdown of columnar structure and the grain refinement can be achieved by asymmetric rolling, resulting in a decrease in the ridging problem.

Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLXB9 has been identified as the major causative gene in Currarino syndrome allowing identification of asymptomatic heterozygotes. In this review, we have performed an analysis of medical publications, and our own additional cases, to identify the range of malformations and complications that occur. We have also estimated risks of malformation in heterozygotes by using Weinburg's proband method on families personally known to us in order to provide accurate genetic counselling information.

Assessment of risk of developing hereditary cancer and subsequent clinical surveillance is largely based on family history. It is considered standard practice to confirm as many diagnoses as possible in cancer families. Our aim was (1) to assess inaccuracies in reporting of cancers by families, (2) to assess the need for confirmation of diagnosis, and (3) to estimate how many families would have been entered unnecessarily or excluded from screening. A retrospective study of 595 case notes was performed in two centres. Methods of confirmation included information from the cancer registries, death certificates, hospital notes, and histopathological records. Accuracy varied by site of cancer and by the closeness of the relationship to the affected person. Reported abdominal malignancies were inaccurate in 20%, whereas 5% of reported breast cancers were inaccurate. In two families the family history of cancer proved fictitious. Management was altered in 23/213 (11%) families following cancer confirmation. The results of the study favour verification of cancer diagnoses particularly if decisions regarding surveillance or prophylactic surgery are based on the family history.