The effect of the design of the orthosis on the axial load transmission of two flexion abduction orthoses used in treating congenital hip dysplasia.

Background: With an incidence of 2-4% in all newborns, developmental dysplasia of the hip, DDH, represents the most frequent congenital disorder of the skeletal system in Germany. The therapy options are deduced with the help of a sonography. The conservative therapy approach includes the application of flexion abduction orthoses, which lead to a development of the child's hip through abduction and flexion angle.

High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations.

Cerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can cause headaches, seizures and hemorrhagic stroke. Disease-associated mutations have been identified in three genes: CCM1/KRIT1, CCM2 and CCM3/PDCD10. The precise proportion of deep-intronic variants in these genes and their clinical relevance is yet unknown.