Search results for "Connective Tissue Disorder"
showing 4 items of 4 documents
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hyper…
2023
Deleterious variants in collagen genes are the most common cause of hereditary connective tissue disorders (HCTD). Adaptations of the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria are still lacking. A multidisciplinary team was set up for developing specifications of the ACMG/AMP criteria for COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, COL11A2 and COL12A1, associated with various forms of HCTD featuring joint hypermobility, which is becoming one of the most common reasons of referral for molecular testing in this field. Such specifications were validated against 209 variants, and resulted effective for classifying as p…
Pulmonary functional and radiological correlations of nutritional status and physical activity in systemic sclerosis
2011
Purpose Methods and Materials Results Conclusion References Personal Information
Dystrophic calcification vs sialolithiasis in a pediactric parotid gland: A case report
2019
Calcinosis is a connective tissue disorder characterized by ectopic calcification in soft tissues. It is subdivided into: dystrophic, metastatic, idiopathic and iatrogenic calcification. The formation of mineralized material in the salivary glands is a common finding in the daily practice of dentists and other specialists. In most cases, this calcification is a sialolith. However, a type of ectopic calcification termed dystrophic calcification is characterized by inappropriate biomineralization in soft tissues and may be associated with trauma, chronic and localized infection or inflammatory diseases. We report a case of a 9-year-old female patient who complained of small nodules in the lef…
Implant-supported fixed prostheses in a Patient with Osteogenesis Imperfecta : a 4-year follow-up
2017
Osteogenesis Imperfecta (OI) is a rare autosomal dominant connective tissue disorder in wich, the bone quality and density is affected. OI includes some metabolic disorders and have a wide range of clinical presentations. In Osteogenesis Imperfecta bone has a very low density and it is a disorder currently treated with bisphosphonates. Quality and quantity of bone is important for establishment of osseointegration in dental implants. There are few reported cases in the literature. This is a case report of a 61 year-old man with grade IV OI, rehabilitated with implant-supported fixed prostheses in the posterior right and left mandible, whithout bone grafts. At the 4-year follow-up, clinical …