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Biomedical subjects

Rodney Grahame

Publications and source records attributed to Rodney Grahame.

9 recordsLinked to original sources
PubMed2004

The genetic epidemiology of joint hypermobility: a population study of female twins.

OBJECTIVE: To estimate the genetic influence on joint hypermobility in an unselected population using a classic twin study design. METHODS: A self-report questionnaire on joint hypermobility as well as data on age, height, weight, estrogen replacement therapy, and menopause status were obtained from 483 monozygotic (MZ) and 472 dizygotic (DZ) unselected female twin pairs ages 21-81 years who were registered with the St Thomas' Adult Twin Registry in the UK. RESULTS: The overall prevalence of hypermobility was 19.5% in MZ twins and 22.1% in DZ twins. The prevalence of hypermobile joints declined with age, falling from 34% in subjects ages 20-30 years to 18.4% in those ages 60 years or older. Significantly greater concordance for joint hypermobility was observed in the MZ twins when compared with the DZ twins (60% versus 36%), consistent with a genetic influence. In variance components analysis, the age- and body mass index-adjusted heritability of joint hypermobility was estimated to be 70% (95% confidence interval 57-89%). CONCLUSION: Genetic factors have a substantial contribution to joint hypermobility in the adult female population.

Adult↗
PubMed2004

Joint laxity and the benign joint hypermobility syndrome in student and professional ballet dancers.

OBJECTIVE: To ascertain the prevalence of hypermobility and the benign joint hypermobility syndrome (BJHS) in male and female student and professional ballet dancers, and explore whether BJHS has any effect on a dance career. METHODS: Students from the Royal Ballet School and professional dancers from the Royal Ballet Company, London, were compared with a control group of teenagers and adults from a local secondary school and The Royal Opera House, respectively. The data, examined by variance analysis, included anthropometric variables, the Beighton score, and clinical features constituting BJHS. Odds ratios for hypermobility and BJHS in dancers were calculated, and the prevalence and distribution of BJHS was examined. RESULTS: Hypermobility and BJHS were common in male and female dancers compared with controls. An OR of 11.0 (95% CI 3.3-31.8) was found for hypermobility in dancers for both the ballet school and the professional company. The prevalence of BJHS was found to decline both from student to professional and within the ballet company from corps de ballet to Principal. Odds ratios for BJHS in student dancers were significant, OR = 3.9 (95% CI 1.3-11.3), but not so in professional dancers: OR = 1.7 (95% CI 0.6-4.7). Arthralgia was common in dancers and was reported more often in males than females. In females, pain was reported most by dancers with other features of BJHS, in particular stretchy skin. CONCLUSION: Hypermobility and BJHS are common in both male and female student and professional ballet dancers. The fall in prevalence, and the greater reporting of arthralgia with other features of BJHS in young female dancers, suggests that BJHS may have an important negative influence, and this may have implications for training. The same pattern was not observed in males, suggesting that their pain-reporting and injury are related to factors other than BJHS.

Arthralgia↗
PubMed2003

Joint hypermobility.

Joint hypermobility is an area of neglect in rheumatology. That is not to say it is overlooked by rheumatologists. It is spotted when sought, but for many unfortunate patients, here the story ends. The act of recognition becomes the goal in itself rather than the medium through which effective therapy can be provided. This chapter serves to reinforce the clinical and epidemiological importance of a common disorder whose significance is under-appreciated and impact largely ignored. In contradistinction to our earlier chapter, published in 2000, which took for its remit the heritable disorders of connective tissue in general, the current one focuses on the commonly encountered (so-called benign) joint hypermobility syndrome, its recognition, epidemiology, clinical features and management according to the most recent literature.

Humans↗
PubMed2003

Dysautonomia in the joint hypermobility syndrome.

PURPOSE: Extraarticular manifestations of the joint hypermobility syndrome may include the peripheral nervous system. The purpose of this study was to investigate autonomic function in patients with this syndrome. METHODS: Forty-eight patients with the joint hypermobility syndrome who fulfilled the 1998 Brighton criteria and 30 healthy control subjects answered a clinical questionnaire designed to evaluate the frequency of complaints related to the autonomic nervous system. Next, 27 patients and 21 controls underwent autonomic evaluation: orthostatic testing, cardiovascular vagal and sympathetic functions, catecholamine levels, and adrenoreceptor responsiveness. RESULTS: Symptoms related to the autonomic nervous system, such as syncope and presyncope, palpitations, chest discomfort, fatigue, and heat intolerance, were significantly more common among patients. Orthostatic hypotension, postural orthostatic tachycardia syndrome, and uncategorized orthostatic intolerance were found in 78% (21/27) of patients compared with in 10% (2/21) of controls. Patients with the syndrome had a greater mean (+/- SD) drop in systolic blood pressure during hyperventilation than did controls (-11 +/- 7 mm Hg vs. -5 +/- 5 mm Hg, P = 0.02) and a greater increase in systolic blood pressure after a cold pressor test (19 +/- 10 mm Hg vs. 11 +/- 13 mm Hg, P = 0.06). Patients with the syndrome also had evidence of alpha-adrenergic (as assessed by administration of phenylephrine) and beta-adrenergic hyperresponsiveness (as assessed by administration of isoproterenol). CONCLUSION: The autonomic nervous system-related symptoms of the patients have a pathophysiological basis, which suggests that dysautonomia is an extraarticular manifestation in the joint hypermobility syndrome.

Adolescent↗
PubMed2003

The relationship of joint hypermobility, bone mineral density, and osteoarthritis in the general population: the Chingford Study.

OBJECTIVE: The prevalence of hypermobility and its consequence in an aging female population is unknown. Case studies of patients with the benign joint hypermobility syndrome suggest both a tendency toward osteopenia and an association with premature osteoarthritis (OA). We assessed hypermobility and its relationship to bone mineral density (BMD) and OA in a postmenopausal female community population. METHODS: Joint hypermobility was assessed by the Beighton and the (more quantitative) Contompasis scores in 716 female subjects under followup in the Chingford Study (age range 53-72, mean 61 yrs, SD 5.8). RESULTS: We found 79 of 716 subjects (11%) had a hypermobility score > 1/9 on the Beighton scale (spine in 75/79); 82/716 had a Contompasis score > 22 (normal < 18). Only one had a 4/9 Beighton score indicative of generalized joint hypermobility. Subjects with Contompasis > 22 were more physically active and less likely to smoke. They had a reduced risk of knee OA (joint space narrowing) (OR 0.48, 95% CI 0.27-0.83, after adjusting for age, height, weight, and activity), but no change in risk of OA in spine or hands. Hip BMD was increased by 3% in this more hypermobile subgroup (p < 0.05). A similar effect was seen for knee OA, but not BMD in those with a Beighton score > 1. CONCLUSION: Our data suggest that in this postmenopausal population the tendency to joint hypermobility may be a marker for fitness, manifested by reduced knee OA and increased hip BMD. The incidence of generalized hypermobility (Beighton > 4/9) was very low (0.14%) compared with the localized form (seen in 11%) and other studies. Those with mild degrees of hypermobility showed no evidence of premature OA or reduced BMD, as reported in some of the rarer heritable disorders of connective tissue.

Aged↗
PubMed2002

Severe periodontitis in Marfan's syndrome: a case report.

BACKGROUND: Connective tissue disorders, such as some forms of Ehlers-Danlos syndrome, have been associated with severe periodontitis. METHODS: This report describes a case of Marfan's syndrome, an inherited disorder of connective tissue caused by mutations in the fibrillin-1 gene, in which the patient presented with severe periodontitis. RESULTS: At examination, an average full-mouth clinical attachment level loss of 5.6+/-2.1 mm, furcation involvement, and severe alveolar bone loss were observed in a 41-year-old Caucasian male. Tooth hypermobility was also present. CONCLUSIONS: This case appears to be the first documentation of severe periodontitis in a patient with Marfan's syndrome. It supports the hypothesis that a variety of connective tissue disorders may confer increased susceptibility to periodontal tissue breakdown.

Adult↗