Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.
A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represent a previously undescribed autosomal dominant trait. (+info)
The clinical manifestations and pathomechanics of contracture of the extensor mechanism of the knee.
Experience with thirty-eight Asian children and adolescents who presented with either stiffness of the knee, genu recurvatum, habitual dislocation of the patella or congenital lateral dislocation of the patella showed that all those disorders were manifestations of contracture of the extensor mechanism, which fell into two groups according to the components involved. In Group I the main components affected were in the midline of the limb, namely rectus femoris and vastus intermedius; these patients presented with varying degrees of stiffness of the knee, or worse, with genu recurvatum. In Group II the main components involved were lateral to the midline of the limb, namely vastus lateralis and the ilio-tibial band; these patients presented with habitual dislocation of the patella, or worse, congenital lateral dislocation of the patella. In both groups untreated patients developed secondary adaptive changes such as subluxation of the tibia or marked genu valgum which made operative procedures more formidable and less effective. Release of the contracture should therefore be performed as early as possible. (+info)
The locked patella. An unusual complication of haemophilia.
Mechanical derangements of the knee are an uncommon complication of chronic haemophiliac arthropathy. Two patients with locking of the patella were treated by manipulation. The mechanism of the injury was forced flexion of the knee joint beyond the limit of its restricted range. The injury is a serious one and may take six months to recover. (+info)
Larsen syndrome in two generations of an Italian family.
This paper describes a familial case of Larsen syndrome. Typical anomalies were present in the propositus and 2 of his 6 daughters. In addition, all patients had progressive deafness and the 2 daughters had cleft palate. The certain exclusion of any consanguinity between the couple, suggests, in this instance, the dominant mode of transmission of the syndrome. (+info)
Diagnostic classification of shoulder disorders: interobserver agreement and determinants of disagreement.
OBJECTIVES: To assess the interobserver agreement on the diagnostic classification of shoulder disorders, based on history taking and physical examination, and to identify the determinants of diagnostic disagreement. METHODS: Consecutive eligible patients with shoulder pain were recruited in various health care settings in the Netherlands. After history taking, two physiotherapists independently performed a physical examination and subsequently the shoulder complaints were classified into one of six diagnostic categories: capsular syndrome (for example, capsulitis, arthritis), acute bursitis, acromioclavicular syndrome, subacromial syndrome (for example, tendinitis, chronic bursitis), rest group (for example, unclear clinical picture, extrinsic causes) and mixed clinical picture. To quantify the interobserver agreement Cohen's kappa was calculated. Multivariate logistic regression analysis was applied to determine which clinical characteristics were determinants of diagnostic disagreement. RESULTS: The study population consisted of 201 patients with varying severity and duration of complaints. The kappa for the classification of shoulder disorders was 0.45 (95% confidence intervals (CI) 0.37, 0.54). Diagnostic disagreement was associated with bilateral involvement (odds ratio (OR) 1.9; 95% CI 1.0, 3.7), chronic complaints (OR 2.0; 95% CI 1.1, 3.7), and severe pain (OR 2.7; 95% CI 1.3, 5.3). CONCLUSIONS: Only moderate agreement was found on the classification of shoulder disorders, which implies that differentiation between the various categories of shoulder disorders is complicated. Especially patients with high pain severity, chronic complaints and bilateral involvement represent a diagnostic challenge for clinicians. As diagnostic classification is a guide for treatment decisions, unsatisfactory reproducibility might affect treatment outcome. To improve the reproducibility, more insight into the reproducibility of clinical findings and the value of additional diagnostic procedures is needed. (+info)
Do postal questionnaires change GPs' workload and referral patterns?
OBJECTIVE: We aimed to determine changes in workload in general practice associated with the postal administration of a health needs questionnaire. METHOD: We carried out controlled before-and-after intervention study of the effects of delivering a postal questionnaire to assess needs for care for patients with arthropathies of the hip and knee, groin hernia and varicose veins, and to assess health service utilization, general health status and risk factors for cardiovascular disease. The setting was a seven-partner, fundholding, group practice in Avon. The subjects were patients registered with an NHS group practice situated in Backwell and Nailsea, Avon. The outcome measures were the frequency of consultation, home visits and night visits, reasons for consultation, referral to specialist agencies and patterns of prescribing. RESULTS: There was no significant difference between the study and control group in the year before and the year after the postal administration of the questionnaire with respect to changes in overall frequency of consultation, frequency of referral (including type of referral) and frequency of prescribing of non-steroidal anti-inflammatory drugs. In the study group there was a significant (P<0.05) reduction in the number of daytime home visits and prescriptions written for analgesics. Analysis of the records of those who had received a medical examination, in addition to a postal questionnaire, showed that there was no significant difference between the study and control group with respect to frequency of consultation, referral to outside agencies or items prescribed. CONCLUSION: Administration of a health needs questionnaire to patients registered with this general practice was not associated with an increase in consultation frequency or referral, or a change in prescribing patterns. No plausible explanation could be identified for the significant reduction in the number of home visits and prescriptions written for analgesics. It was concluded that these results were a statistical artefact. On the basis of the evidence from this study, GPs can be reassured that the administration of health needs questionnaires of the type used in this study will not result in any increase in workload or costs of care incurred by increased referrals to outside agencies or increased prescribing. (+info)
Blood-induced joint damage: a human in vitro study.
OBJECTIVE: To investigate mechanisms underlying cartilage damage caused by brief exposure of cartilage to blood, such as that occurring during intraarticular bleeding. METHODS: Human articular cartilage was cultured for 4 days in the presence of blood (components; 7.5-50% volume/volume). The synthesis of cartilage matrix, as determined by proteoglycan synthesis (incorporation of 35SO4(2-)), was measured directly after exposure and after a recovery period of 20 days, during which the cartilage was cultured in the absence of blood or blood components. The production of the cytokines interleukin-1 (IL-1) and tumor necrosis factor a (TNFalpha), which have a destructive effect on cartilage, was determined by enzyme-linked immunosorbent assay, and the viability of chondrocytes was determined by measuring lactate dehydrogenase release and with electron microscopy. The involvement of oxygen metabolites was evaluated by using N-acetylcysteine. RESULTS: Brief exposure to blood resulted in dose-dependent inhibition of proteoglycan synthesis. The combination of mononuclear cells and red blood cells was responsible for this effect. The effect was irreversible, independent of IL-1 and TNFalpha production, and was accompanied by chondrocyte death. These effects were partially prevented by N-acetylcysteine. CONCLUSION: Brief exposure of cartilage to blood, as occurs after a single episode or a limited number of bleeding episodes, results in lasting cartilage damage in vitro, in which cytotoxic oxygen metabolites play a role. (+info)
Blood-induced joint damage: a canine in vivo study.
OBJECTIVE: To investigate the direct and indirect (via synovial inflammation) effects of intraarticular bleeding on cartilage in vivo. METHODS: Right knees of 14 beagle dogs were injected with autologous blood on days 0 and 2. Cartilage matrix proteoglycan turnover, collagen damage, and synovial inflammation of these knees, including the cartilage-destructive properties of the synovial tissue, were determined and compared with those of the left control knees on day 4 (short-term effects; n = 7) and day 16 (long-term effects; n = 7). RESULTS: Injected knees had a diminished content of proteoglycans in the cartilage matrix, and release of proteoglycans was enhanced (days 4 and 16). The synthesis of proteoglycans was significantly inhibited on day 4 but was enhanced on day 16. On day 4 more collagen was denatured in the injected joint than in the control joint; this effect was no longer detectable on day 16. Synovial tissue showed signs of inflammation on day 4 and day 16 but had cartilage-destructive properties only on day 16. CONCLUSION: In vivo exposure of articular cartilage to blood for a relatively short time results in lasting changes in chondrocyte activity and in cartilage matrix integrity, changes that may predict lasting joint damage over time. Interestingly, the direct effect of blood on cartilage precedes the indirect effect via synovial inflammation. (+info)