A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.

Recently, CLPB deficiency has been shown to cause a genetic syndrome with cataracts, neutropenia, and 3-methylglutaconic aciduria. Surprisingly, the neurological presentation ranges from completely unaffected to patients with virtual absence of development. Muscular hypo- and hypertonia, movement disorder and progressive brain atrophy are frequently reported. We present the foetal, peri- and neonatal features of 31 patients, of which five are previously unreported, using a newly developed clinical severity scoring system rating the clinical, metabolic, imaging and other findings weighted by the age of onset. Our data are illustrated by foetal and neonatal videos. The patients were classified as having a mild (n = 4), moderate (n = 13) or severe (n = 14) disease phenotype. The most striking feature of the severe subtype was the neonatal absence of voluntary movements in combination with ventilator dependency and hyperexcitability. The foetal and neonatal presentation mirrored the course of disease with respect to survival (current median age 17.5 years in the mild group, median age of death 35 days in the severe group), severity and age of onset of all findings evaluated. CLPB deficiency should be considered in neonates with absence of voluntary movements, respiratory insufficiency and swallowing problems, especially if associated with 3-methylglutaconic aciduria, neutropenia and cataracts. Being an important differential diagnosis of hyperekplexia (exaggerated startle responses), we advise performing urinary organic acid analysis, blood cell counts and ophthalmological examination in these patients. The neonatal presentation of CLPB deficiency predicts the course of disease in later life, which is extremely important for counselling.

Contribution to Reduce the Influence of the Free Sliding Edge on Compression-After-Impact Testing of Thin-Walled Undamaged Composites Plates.

Standard Compression-After-Impact test devices show a weakening effect on thin-walled specimens due to a free panel edge that is required for compression. As a result, thin-walled undamaged samples do not break in the free measuring area but near the free edge and along the supports. They also show a strength reduction due to the free edge which can become potentially relevant for very weakly damaged panels. In order to reduce the free edge influence on the measured strength, a modified Compression-After-Impact test device has been developed. In an experimental investigation with carbon fiber reinforced plastics, the modified device is compared with a standard device. It is shown that thin-walled undamaged specimens investigated with the modified device now mainly break within the free measuring area and no longer at the free edge and along the bearings as it is the case for standard test devices. The modified device does not cause a free edge weakening effect in comparison to standard devices. The modified device is therefore more suitable for determining the compression strengths of undamaged thin-walled composite plates.