Correlation of In-situ Hand Anatomy With Point of Care Ultrasound.

The effective use of point-of-care ultrasound for the diagnosis and treatment of hand conditions is dependent upon a thorough understanding of its anatomic bases. To facilitate this understanding, in-situ cadaveric hand dissections were correlated with handheld ultrasound images in the palm focusing on key areas of clinical relevance. The palms of an embalmed cadaver were dissected, minimizing the reflection of structures whenever possible to emphasize normal relationships and tissue planes.

[Glycogenosis type IV (Andersen disease). Clinical data, pathology, and genetics in a fatal perinatal case].

Here we report the case of a newborn with glycogenosis type IV (Andersen disease), who died shortly after birth. The diagnosis was established in the first instance by light microscopy and histochemistry, and subsequently ultrastructurally. DNA could be extracted from a fibroblast cell culture by sequencing the causative GBE1 gene (glycogen branching enzyme 1).

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.

Characterisation of breakpoints in disease-associated balanced chromosome rearrangements (DBCRs), which disrupt or inactivate specific genes, has facilitated the molecular elucidation of a wide variety of genetic disorders. However, conventional methods for mapping chromosome breakpoints, such as in situ hybridisation with fluorescent dye-labelled bacterial artificial chromosome clones (BAC-FISH), are laborious, time consuming and often with insufficient resolution to unequivocally identify the disrupted gene. By combining DNA array hybridisation with chromosome sorting, the efficiency of breakpoint mapping has dramatically improved.

[Comparison between age-dependent (Wald alpha program) and age-independent (Ulm index) analysis program for prenatal detection of Down's syndrome with serum markers].

An age-dependent analytic program (Alpha-Software from Wald) was compared to an age-independent Index (Ulm-Index) in order to determine effectivity of detection in prenatal screening for Down's Syndrome in 7060 pregnant women. The rate of accuracy was similar in both analytic programs (6 from 7), but, the rate of false-positive results was twice as high using the Ulm-Index (14.7 versus 7.