Nonoccupational Risk Factors for Carpal Tunnel Syndrome

OBJECTIVE: To examine the relation between selected nonoccupational risk factors and surgery for carpal tunnel syndrome. DESIGN: Case-control study using an administrative database. PARTICIPANTS: Enrollees of New Jersey Medicare or Medicaid programs during 1989 to 1991. MEASUREMENTS: The outcome of interest was open or endoscopic carpal tunnel release. We examined the relation between carpal tunnel release and diabetes mellitus, thyroid disease, inflammatory arthritis, hemodialysis, pregnancy, use of corticosteroids, and hormone replacement therapy. MAIN RESULTS: In multivariate models, inflammatory arthritis was strongly associated with carpal tunnel release (odds ratio [OR] 2.9; 95% confidence interval [CI] 2.2, 3.8). However, corticosteroid use also appeared to be associated with a greater likelihood of undergoing carpal tunnel release, even in the absence of inflammatory arthritis (OR 1.6; 95% CI 1.2, 2.1). Diabetes had a weak but significant association with carpal tunnel release (OR 1.4; 95% CI 1.2, 1.8), as did hypothyroidism (OR 1.7; 95% CI 1.1, 2.8), although patients with hyperthyroidism did not have any change in risk. Women who underwent carpal tunnel release were almost twice as likely to be users of estrogen replacement therapy as controls (OR 1.8; 95% CI 1.0, 3.2). CONCLUSIONS: Although inflammatory arthritis is the most important nonoccupational risk factor for carpal tunnel release, these data substantiate the increase in risk associated with diabetes and untreated hypothyroidism. Further investigation in detailed clinical studies will be necessary to confirm whether changes in corticosteroid use and hormone replacement therapy offer additional means of risk reduction for this common condition

Epidemiology of cardiac syndrome X and microvascular angina

Chest pain and normal coronary angiography is seen in up 30 % of patients undergoing the investigation. Despite its notable prevalence, the epidemiology of the condition remains poorly documented. Since the turn of the twentieth century, researchers have been baffled by “unmistakable” angina in the absence of coronary artery disease. Curiosity as to the cardiac aetiology of this chest pain became the focus of several key studies investigating the clinical and haemodynamic features of patients with normal coronary angiography. From these early findings, the cardinal features of three specific disorders associated with normal coronary angiography were established – Cardiac Syndrome X, Microvascular Angina and more recently, the Coronary Slow Flow Phenomenon. Although ambiguity in the literature exists, it is likely that an ‘ischemic’ mechanism for the chest pain in these patients is explained by coronary microvascular dysfunction. It also now understood that despite the absence of significant coronary artery disease, the outcomes of patients are not entirely favourable, with studies suggesting a frequent persistence of chest pain, and increased risk of cardiac events, particularly among women. This chapter will review the available epidemiological data on patients with chest pain and normal coronary angiography, and the clinical features and possible aetiological explanations for the specific coronary microvascular disorders.Rosanna Tavella and Guy D. Eslic

BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma

Purpose From epidemiological studies it appears that breast cancer (BC) and cutaneous melanoma (CMM) in the same individual occur at a higher frequency than expected by chance. Genetic factors common to both cancers can be suspected. Our goal was to estimate the involvement of "high risk" genes in patients presenting these two neoplasia, selected irrespectively from family history and age at diagnosis. Experimental Design Eighty two patients with BC and CMM were screened for BRCA1, BRCA2, TP53, CDKN2A and CDK4 (exon 2) germline mutations. Results Deleterious mutations were identified in 6 patients: two carriers of a BRCA1 germline mutation, two carriers of TP53 germline mutations (one of which also harbored a BRCA2 deleterious mutation, the other one a BRCA2 unclassified variant), and two carriers of a CDKN2A germline mutation. In addition, 6 variants of unknown signification were identified in BRCA1 or BRCA2 genes. Regarding family history, 3/13 (23%) patients with a positive family history of BC or CMM were carriers of a germline mutation, whereas only 3/69 (4%) patients without family history were carriers of a germline mutation. Conclusion Our findings show that few patients with BC and CMM who lacked family histories of these cancers are carriers of deleterious germline mutations in four of the five genes we examined. We describe for the first time, two simultaneous BRCA2 and TP53 mutations, suggesting that analysis in more than one gene could be performed if a patient's personal or familial history does not match a single syndrome