Deletions in the MAL gene result in loss of Mal protein, defining the rare inherited AnWj-negative blood group phenotype.

The genetic background of the high prevalence red blood cell antigen AnWj has remained unresolved since its identification in 1972, despite reported associations with both CD44 and Smyd1 histone methyltransferase. Development of anti-AnWj, which may be clinically significant, is usually due to transient suppression of antigen expression, but a small number of individuals with persistent, autosomally recessive inherited AnWj-negative phenotype have been reported. Whole-exome sequencing of individuals with the rare inherited AnWj-negative phenotype revealed no shared mutations in CD44H or SMYD1; instead, we discovered homozygosity for the same large exonic deletion in MAL, which was confirmed in additional unrelated AnWj-negative individuals.

Trainability of affordance judgments in right and left hemisphere stroke patients.

Whenever we are confronted with action opportunities in everyday life, e.g., when passing an opening, we rely on our ability to precisely estimate our own bodily capabilities in relation to the environmental conditions.

Pediatric Respiratory Emergencies-Recognition, Approach, and Management.

This article reviews the current trends and management of respiratory emergencies in children. Respiratory emergencies are a common report in pediatrics and often require prompt recognition and intervention. It is important to differentiate upper from lower respiratory disease processes because the management is often different.

100 years after Liepmann-Lesion correlates of diminished selection and application of familiar versus novel tools.

100 years ago, Liepmann highlighted the role of left ventro-dorsal lesions for impairments in conceptual (rather ventral) and motor (more dorsal) related aspects of apraxia. Many studies thereafter attributed to an extended left fronto-temporo-parietal network. Yet, to date there are only few studies that looked at apraxic performance in the selection and application of familiar versus novel tools.