Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.

Genetic causes of skeletal disorders are manifold and affect, among others, enzymes of bone and connective tissue synthesis pathways. We present a twelve-year-old boy with a mild skeletal dysplasia, hypermobility of joints and axial malalignment of lower limbs and feet. Exome sequencing revealed a biallelic loss of function mutation in CSGALNACT1, which encodes chondroitin sulfate N-acetylgalactosaminyltransferase 1 and plays a major role in the chondroitin sulfate chain biosynthesis and therefore in the synthesis of glycosaminoglycans.

Effects of self and familiarity on change detection in patients with schizophrenia.

In schizophrenia, processing of self-related stimuli has been shown to be altered. It is unclear whether altered self-processing in schizophrenia is confined to cognitive functions such as self-recognition, or whether it pertains to automatic lower-level perceptual processes. Visual face processing was tested in patients with schizophrenia (n=36) and healthy controls (n=33).

[Comparison of the treatment of slipped capital femoral epiphysis with K-wires and cannulated titanium screws].

Aim: The treatment of slipped capital femoral epiphysis (SCFE) is usually treated operatively, but there is still no consensus about the method to be used. Up to a 30 degrees degree of slipping, the epiphysis is normally fixed in situ. The aim of our study was to compare the intermediate results after fixation in situ by K-wires versus cannulated titanium screws (Königsee-Implantate, Königsee-Aschau, Germany).

Evaluation of femoral head vascularization in slipped capital femoral epiphysis before and after cannulated screw fixation with use of contrast-enhanced MRI: initial results.

In this study we used contrast-enhanced magnetic resonance imaging (MRI) to evaluate the vascularization of the femoral head in children with slipped capital femoral epiphysis (SCFE) before and after cannulated screw fixation. Eleven consecutive children with SCFE, seven boys and four girls, aged 10-15 years were included in the study. There were no preslips; four children had acute, three acute-on-chronic, and four chronic SCFE.

[Teutschländer disease. A rare benign differential diagnosis of proliferative space-occupying lesions in the periarticular soft tissue].

The tumoral calcinosis (synonym: Teutschländer disease) is a very rare benign metabolic dysfunction of unknown etiology. It manifests principally as massive subcutaneous soft tissue deposits of calcium phosphate near the large joints and is also characterized by slow progressive growth. Causally, a disturbance of the calcium and phosphate metabolism/balance with, among others, autosomal dominant heredity is suspected.