Introduction to genetic epidemiology

Genetic epidemiology is of topical and increasingly practical relevance. The subject attempts to answer 2 questions: (1) is there a genetic component to a disease, and (2) what genes are involved? This article summarizes genetic epidemiologic methods, describing family- and population-based methods used to locate and identify genes and the advantages and disadvantages of each approach. Health care professionals are faced with more and more genetic information, both from interested patients and from the media, and understanding the principles underlying genetic studies allows such information to be placed in context. © 2010 American Optometric Association.

The epidemiology of peritonsillar abscess disease in Northern Ireland

1. To describe the epidemiology of peritonsillar abscess disease in Northern Ireland. 2. To describe the impact of the nature of microbiological sampling on culture results.

Trends in the epidemiology of Candida bloodstream infections in Northern Ireland between January 1984 and December 2000

Objective: To describe the epidemiology of Candida bloodstream infections (BSI) in Northern Ireland. Methods: Retrospective collation of data relating to all clinically significant BSI in a university teaching hospital, which had been recorded prospectively, between 1984 and 2000. Results: One hundred and forty five episodes of candidaemia occurred in 144 patients (of mean age 56.6 years). The contribution of Candida spp. towards all significant BSI increased from 2.00% to 2.5%. C. albicans was the most frequently isolated species, however, its incidence fell from 70% to 53% during the study period. The greatest increase in incidence was seen with C. glabrata which was the most common non-albicans species. Twenty-nine per cent of isolates occurred in patients from an intensive care unit and, surprisingly, a further 25.5% occurred in patients from a surgical service. Conclusion: There appears to be several subtle differences in the epidemiology of candidal BSI between Northern Ireland and other countries. © 2002 The British Infection Society.

Epidemiology of giant retinal tears in the United Kingdom: The British giant retinal tear epidemiology eye study (BGEES)

To determine the incidence of giant retinal tear (GRT) in the United Kingdom and to provide epidemiologic data, clinical characteristics, treatment methods, and short-term outcomes in affected and fellow eyes. METHODS. Patients with a newly developed GRT (90° or greater in circumferential extent associated with posterior vitreous detachment) were identified prospectively over a 13-month period (January 2007-January 2008, inclusive) by active surveillance through the British Ophthalmic Surveillance Unit. Questionnaire-based data were obtained from reporting ophthalmologists at baseline and 12 months. RESULTS. Sixty patients (62 eyes) developed a new GRT, giving a U.K. annual incidence of 0.094 (95% CI 0.072-0.120) cases or 0.091 (95% CI 0.069-0.117) patients per 100,000. The GRTs were mostly idiopathic (54.8%), affected middle-aged (mean, 42.2 years), white British (93.3%) males (71.7%), with presenting vision worse than 20/40 in 59.7%, foveal detachment in 45.2%, and proliferative vitreoretinopathy of grade C (PVR-C) or worse in 11.3%. Treatment in most was managed by pars plana vitrectomy (93.5%) with laser retinopexy (52.5%) and silicone oil endotamponade (75.8%). Prophylactic 360° laser or cryotherapy was applied to 39.0% of the fellow eyes. At mean follow-up of 11.3 months, eventual retinal reattachment was attained in 94.7%, although only 42.1% achieved vision of =20/40. Neither GRT nor RD developed in any of the 19 nontraumatic, noniatrogenic, prophylactically treated fellow eyes. CONCLUSIONS. This study is the first population-based prospective effort to evaluate the epidemiology of GRT. Although onlya minority presented with PVR-C and high retinal reattachment rates were achieved, fewer than half had vision sufficient for driving in the GRT eye.

Immunophenotypic shift in a case of mycosis fungoides with vitreous invasion

The case of an 82-year-old man who developed intraocular extension from mycosis fungoides, a cutaneous T-cell lymphoma, is presented. The patient died soon after intra-ocular involvement occurred. Immunohistochemistry of a skin biopsy, taken early in the course of the disease, disclosed a predominance of T cells with a helper/inducer phenotype (CD4). However, an intraocular infiltrate obtained 7 years later contained mostly T cells with a suppressor/cytotoxic phenotype (CD8). The occurrence of ocular invasion, the change in immunophenotype, and the predominant proliferation of CD8 lymphocytes may have been related to the poor outcome in this patient.

Apolipoprotein-defined lipoproteins and apolipoproteins:Associations with abnormal albuminuria in type 1 diabetes in the diabetes control and complications trial/epidemiology of diabetes interventions and complications cohort

Dyslipoproteinemia has been associated with nephropathy in diabetes, with stronger correlations in men than in women. We aimed to characterize and compare plasma lipoprotein profiles associated with normal and increased albuminuria in men and women using apolipoprotein-defined lipoprotein subclasses and simple apolipoprotein measures.

Clinical and technical factors associated with skin intrinsic fluorescence in subjects with type 1 diabetes from the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Study

The Diabetes Control and Complications Trial (DCCT)/Epidemiology of Diabetes Interventions and Complications(EDIC) studies have established multiyear mean hemoglobin A1c (HbA1c) as predictive of microvascular complications in persons with type 1 diabetes. However, multiyear mean HbA1c is not always available in the clinical setting. Skin advanced glycation end products (AGEs) are thought to partially reflect effects of hyperglycemia over time, and measurement of skin AGEs might be a surrogate for multiyear mean HbA1c. As certain AGEs fluoresce and skin fluorescence has been demonstrated to correlate with the concentration of skin AGEs, noninvasive measurement by skin intrinsic fluorescence(SIF) facilitates the exploration of the association of mean HbA1c and other clinical/technical factors with SIF using the detailed phenotypic database available in DCCT/EDIC.

Long-term renal outcomes of patients with type 1 diabetes mellitus and microalbuminuria:an analysis of the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications cohort

Microalbuminuria is a common diagnosis in the clinical care of patients with type 1 diabetes mellitus. Long-term outcomes after the development of microalbuminuria are variable.

Modern-day clinical course of type 1 diabetes mellitus after 30 years' duration:the diabetes control and complications trial/epidemiology of diabetes interventions and complications and Pittsburgh epidemiology of diabetes complications experience (1983-2005)

Clinical treatment goals of type 1 diabetes mellitus (T1DM) have changed since the Diabetes Control and Complications Trial (DCCT) demonstrated reduced long-term complications with intensive diabetes therapy. There have been few longitudinal studies to describe the clinical course of T1DM in the age of intensive therapy. Our objective was to describe the current-day clinical course of T1DM.

Serum lipoproteins in the diabetes control and complications trial/epidemiology of diabetes intervention and complications cohort:associations with gender and glycemia

To relate the nuclear magnetic resonance (NMR)-determined lipoprotein profile, conventional lipid and apolipoprotein measures, and in vitro oxidizibility of LDL with gender and glycemia in type 1 diabetes.