Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a distinct Schwann cell pathology. CMT4C is inherited as an autosomal recessive trait and has been mapped to a 13-cM linkage interval on chromosome 5q23-q33. By homozygosity mapping and allele-sharing analysis, we refined the CMT4C locus to a suggestive critical region of 1.

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

Autosomal recessive hereditary motor and sensory neuropathy or Charcot-Marie-Tooth disease (CMT) is a severe childhood-onset neuromuscular disorder. Autosomal recessive CMT is genetically heterogeneous with one locus mapped to chromosome 11p15 (CMT4B2). The histopathological hallmarks of CMT4B2 are focal outfoldings of myelin in nerve biopsies.

Alteration of the activity of the 11beta-hydroxysteroid dehydrogenase in pregnancy: relevance for the development of pregnancy-induced hypertension?

In this study we evaluated the activity of renal 11beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD2) in patients with pregnancy-induced hypertension (PIH). A reduction of the activity of 11beta-HSD2 leads to pseudohyperaldosteronism due to insufficient interconversion of cortisol to its inactive 11-oxo-metabolite cortisone in the renal tubulus cell. We measured urinary free cortisol and cortisone in patients with and without PIH and calculated the urinary free cortisol to free cortisone ratio, which is well accepted as a correlate of the activity of renal 11beta-HSD2.

[Dermatitis caused by the tropical rat mite (Ornithonyssus bacoti) in Switzerland. Case report].

The tropical rat mite, Ornithonyssus bacoti, has been detected in Switzerland for the first time in 3 patients suffering from a small papulous dermatitis. The lesions, distributed over the whole body, were especially intense on the arms and legs. The sting of O.

[Quantification of visual EEG evaluation by using the concept of optimality (author's transl)].

For the visual evaluation of the EEG in children (awake) 17 items are formulated and defined. They are to be examined and determined as beeing either optimal or non-optimal, as it is easier to define what is optimal, than what is normal. The non-optimal items are summed up for a total score.