Chondrodysplasia punctata represents clinically and genetically a heterogeneous group of disorders characterized by the presence of multiple congenital anomalies and stippled epiphyses. We present clinical course of the disease and the results of metabolic, X-ray and molecular analyses in 19-months old girl with X-linked dominant chondrodysplasia punctata with intrauterine growth retardation, c...

Background: The ideal treatment of distal metaphyseal tibia fractures is still controversial. With the development of extremely distal locking multidirectional holes, the application of intramedullary nailing has extended to the treatment of distal metaphyseal tibial fractures. The aim of the study was to evaluate the results of interlocking intramedullary nailing in extra-articular distal meta...

Conventional uncemented femoral implants provide dependable long-term fixation in patients with a wide range of clinical function. However, challenges with proximal-distal femoral mismatch, preservation of bone stock, and minimally invasive approaches have led to exploration into various other implant designs. Short-stem designs focusing on a stable metaphyseal fit have emerged to address these...

Aims. To investigate regional lower limb bone density and associations with weight, PTH, and bone breakdown in coeliac men. Methods. From whole body DXA scans bone mineral density (BMD) was measured in 28 coeliac men, in the lower limb (subdivided into 6 regions, 3 being metaphyseal (mainly trabecular) and 2 diaphyseal (mainly cortical)). BMD at femoral neck (FN) and lumbar spine L2-4, body wei...

Several patients have been described recently who suffer from a non-rhizomelic type of chondrodysplasia punctata (CDP), but who show all the biochemical abnormalities characteristic of the rhizomelic form of chondrodysplasia punctata (RCDP), a peroxisomal disorder. We have used protease protection experiments and microinjection of repotter-protein-encoding expression plasmids to show that perox...

The collagen type II alpha 1 (COL2A1) mutation causes severe skeletal malformations, but the pathogenic mechanisms of how this occurs are unclear. To understand how this may happen, a col2a1 p.Gly1170Ser mutated mouse model was constructed and in homozygotes, the chondrodysplasia phenotype was observed. Misfolded procollagen was largely synthesized and retained in dilated endoplasmic reticulum ...

The development of transgenic technology has made possible the generation of targeted gene-mutated mouse lines suitable for use in experimental osteoarthritis (OA) research. Transgenic mice harbouring mutations in cartilage collagen types II and IX develop early-onset OA and are therefore promising models of age-related OA, even though the mice often show signs of chondrodysplasia. Also, mouse ...

Despite abundant research on the distribution of glottal stops and glottalization in English and other languages, it is still unclear which factors matter most in predicting where glottal stops occur. In this study, logistic mixed-effects regression modeling is used to predict the occurrence of word-initial full glottal stops vs. no voicing irregularity. The results indicate that prominence and...