Hypermobility type Ehlers-Danlos syndrome (HT-EDS) is a relatively frequent, although commonly misdiagnosed variant of Ehlers-Danlos syndrome, mainly characterized by marked joint instability and mild cutaneous involvement. Chronic pain, asthenia, and gastrointestinal and pelvic dysfunction are characteristic additional manifestations. We report on 21 HT-EDS patients selected from a group of 40 subjects with suspected mild hereditary connective tissue disorder. General, mucocutaneous, musculoskeletal, cardiovascular, neurologic, gastrointestinal, urogynecological, and ear-nose-throat abnormalities are investigated systematically and tabulated. Six distinct clinical presentations of HT-EDS are outlined, whose tabulation is a mnemonic for the practicing clinical geneticist in an attempt to diagnose this condition accurately. With detailed clinical records and phenotype comparison among patients of different ages, the natural history of the disorder is defined. Three phases (namely, hypermobility, pain, and stiffness) are delineated based on distinguishing manifestations. A constellation of additional, apparently uncommon abnormalities is also identified, including dolichocolon, dysphonia, and Arnold-Chiari type I malformation. Their further investigation may contribute to an understanding of the pathogenesis of the protean manifestations of HT-EDS, and a more effective approach to the evaluation and management of affected individuals.
Background and Purpose. Radial shock-wave therapy (RSWT) is a pneumatically generated, low- to medium-energy type of shock-wave therapy. This single-blind, randomized, “less active similar therapy”-controlled study was performed to evaluate the effectiveness of RSWT for the management of calcific tendinitis of the shoulder. Subjects. Ninety patients with radiographically verified calcific tendinitis of the shoulder were tested. Methods. Subjects were randomly assigned to either a treatment group (n=45) or a control group (n=45). Pain and functional level were evaluated before and after treatment and at a 6-month follow-up. Radiographic modifications in calcifications were evaluated before and after treatment. Results. The treatment group displayed improvement in all of the parameters analyzed after treatment and at the 6-month follow-up. Calcifications disappeared completely in 86.6% of the subjects in the treatment group and partially in 13.4% of subjects; only 8.8% of the subjects in the control group displayed partially reduced calcifications, and none displayed a total disappearance. Discussion and Conclusion. The results suggest that the use of RSWT for the management of calcific tendinitis of the shoulder is safe and effective, leading to a significant reduction in pain and improvement of shoulder function after 4 weeks, without adverse effects.
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