ABSTRACT
The manifestation of glenohumeral arthritis in the young adult is a devastating occurrence that can be difficult to manage. This review details the many underlying etiologies including genetic causes, congenital abnormalities, glenohumeral instability, posttraumatic lesions, postcapsulorraphy arthropathy, osteonecrosis, intraarticular pain pump postoperative use, radiofrequency/thermal capsulorraphy treatments, septic arthritis/infection, and inflammatory arthropathies. Although each of these potential causes have been well-studied, their contributions to the development of glenohumeral arthritis in the young person has not been described extensively.
Subject(s)
Arthritis/etiology , Shoulder Joint/physiopathology , Arthritis/congenital , Arthritis/genetics , Humans , Joint Instability/complications , Osteonecrosis/complications , Sepsis/complications , Shoulder Fractures/complicationsABSTRACT
Chronic infantile neurological cutaneous and articular (CINCA) syndrome is a severe chronic inflammatory disease of early onset, characterized by cutaneous symptoms, central-nervous-system involvement, and arthropathy. In the present study, we report, in seven unrelated patients with CINCA syndrome, distinct missense mutations within the nucleotide-binding site of CIAS1, a gene encoding cryopyrin and previously shown to cause Muckle-Wells syndrome and familial cold urticaria. Because of the severe cartilage overgrowth observed in some patients with CINCA syndrome and the implications of polymorphonuclear cell infiltration in the cutaneous and neurological manifestations of this syndrome, the tissue-specific expression of CIAS1 was evaluated. A high level of expression of CIAS1 was found to be restricted to polymorphonuclear cells and chondrocytes. These findings demonstrate that CIAS1 missense mutations can result in distinct phenotypes with only a few overlapping symptoms and suggest that this gene may function as a potential inducer of apoptosis.
Subject(s)
Arthritis/genetics , Blood Proteins/genetics , Carrier Proteins/genetics , Inflammation/genetics , Meningitis/genetics , Mutation , Skin Diseases/genetics , Amino Acid Sequence , Arthritis/congenital , Base Sequence , Child , Chondrocytes/metabolism , Chronic Disease , Female , Gene Expression , Humans , Infant , Infant, Newborn , Inflammation/congenital , Male , Meningitis/congenital , Molecular Sequence Data , NLR Family, Pyrin Domain-Containing 3 Protein , Neutrophils/metabolism , Pedigree , RNA, Messenger/genetics , RNA, Messenger/metabolism , SyndromeABSTRACT
The patient presented with progressive joint deformity, a hoarse voice, subsequent cachexia, and myoclonic seizures. She was first seen aged 22 months and died aged 6 years. A diagnosis of Farber's disease was made by demonstrating a deficiency of acid ceramidase both in leucocytes and fibroblasts.
Subject(s)
Amidohydrolases/deficiency , Lipidoses/congenital , Acid Ceramidase , Arthritis/congenital , Ceramidases , Female , Humans , Infant , Lysosomes/enzymology , SyndromeABSTRACT
Serum immunoglobulin concentrations in precolostral calves affected with weak calf syndrome (WCS), clinically normal calves, and calves which were congenitally infected during the 3rd trimester of gestation with microbial agents isolated from calves with WCS were determined by the quantitative radial immunodiffusion test. Significant difference was not seen in immunoglobulin M and immunoglobulin G concentrations between serums obtained from precolostral calves affected with WCS and clinically normal calves. However, immunoglobulin M and immunoglobulin G concentrations for precolostral calves which were congenitally infected were significantly greater (14 and 5 times, respectively) than those in serums from normal calves.