Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis
BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY
Authors: Unger, Sheila; Bonafe, Luisa; Superti-Furga, Andrea
Abstract
Multiple epiphyseal dysplasia is one of the more common skeletal dysplasias but it can still be difficult to diagnose. The presenting signs are often rheumatological ('joint pain') or neurological ('myopathy') in nature, and the cardinal feature of skeletal dysplasia (short stature) may not be present. A radiographic skeletal survey is necessary to delineate the pattern of generalized delayed epiphyseal ossification and changes in epiphyseal contour. Once the diagnosis of multiple epiphyseal dysplasia has been established, careful examination of the radiographs can help to determine which genes should be analysed. Mutations in at least six different genes can cause multiple epiphyseal dysplasia, and it can be either dominant or recessive. Molecular diagnosis is important for accurate prognosis and genetic counselling.
The Pathology of Bone Tissue during Peri-Implantitis
JOURNAL OF DENTAL RESEARCH
Authors: Schminke, B.; vom Orde, F.; Gruber, R.; Schliephake, H.; Buergers, R.; Miosge, N.
Abstract
Dental implants are one of the most frequently used treatment options for tooth replacement. Approximately 30% of patients with dental implants develop peri-implantitis, which is an oral inflammatory disease that leads to loss of the supporting tissues, predominately the bone. For the development of future therapeutic strategies, it is essential to understand the molecular pathophysiology of human dental peri-implant infections. Here, we describe the gene and protein expression patterns of peri-implantitis bone tissue compared with healthy peri-implant bone tissue. Furthermore, cells from the osteoblastic lineage derived from peri-implantitis samples were immortalized and characterized. We applied microarray, quantitative reverse transcription polymerase chain reaction, fluorescence-activated cell sorting, and Western blot analyses. The levels of typical bone matrix molecules, including SPP1, BGLAP, and COL9A1, in patients with peri-implantitis were reduced, while the inflammation marker interleukin 8 (IL8) was highly expressed. RUNX2, one of the transcription factors of mature osteoblasts, was also decreased in peri-implantitis. Finally, the human telomerase reverse transcriptase immortalized cell line from peri-implantitis exhibited a more fibro-osteoblastic character than did the healthy control.