The Family Investigation of Nephropathy and Diabetes (FIND) was initiated to map genes underlying susceptibility to diabetic nephropathy. A total of 11 centers participated under a single collection protocol to recruit large numbers of diabetic sibling pairs concordant and discordant for diabetic nephropathy. We report the findings from the first-phase genetic analyses in 1,227 participants from 378 pedigrees of European-American, African-American, Mexican-American, and American Indian descent recruited from eight centers. Model-free linkage analyses, using a dichotomous definition for diabetic nephropathy in 397 sibling pairs, as well as the quantitative trait urinary albumin-to-creatinine ratio (ACR), were performed using the Haseman-Elston linkage test on 404 microsatellite markers. The strongest evidence of linkage to the diabetic nephropathy trait was on chromosomes 7q21.3, 10p15.3, 14q23.1, and 18q22.3. In ACR (883 diabetic sibling pairs), the strongest linkage signals were on chromosomes 2q14.1, 7q21.1, and 15q26.3. These results confirm regions of linkage to diabetic nephropathy on chromosomes 7q, 10p, and 18q from prior reports, making it important that genes underlying these peaks be evaluated for their contribution to nephropathy susceptibility. Large family collections consisting of multiple members with diabetes and advanced nephropathy are likely to accelerate the identification of genes causing diabetic nephropathy, a life-threatening complication of diabetes. Diabetes 56:1577-1585, 2007
PURPOSE Diabetic retinopathy (DR) and diabetic nephropathy (DN) are serious microvascular complications of diabetes mellitus. Correlations between severity of DR and DN and computed heritability estimates for DR were determined in a large, multiethnic sample of diabetic families. The hypothesis was that (1) the severity of DR correlates with the presence and severity of nephropathy in individuals with diabetes mellitus, and (2) the severity of DR is under significant familial influence in members of multiplex diabetic families. METHODS The Family Investigation of Nephropathy and Diabetes (FIND) was designed to evaluate the genetic basis of DN in American Indians, European Americans, African Americans, and Mexican Americans. FIND enrolled probands with advanced DN, along with their diabetic siblings who were concordant and discordant for nephropathy. These diabetic family members were invited to participate in the FIND-Eye study to determine whether inherited factors underlie susceptibility to DR and its severity. FIND-Eye participants underwent eye examinations and had fundus photographs taken. The severity of DR was graded by using the Early Treatment Diabetic Retinopathy Study Classification (ETDRS). Sib–sib correlations were calculated with the SAGE 5.0 program FCOR, to estimate heritability of retinopathy severity. RESULTS This report summarizes the results for the first 2368 diabetic subjects from 767 families enrolled in FIND-Eye; nearly 50% were Mexican American, the largest single ethnicity within FIND. The overall prevalence of DR was high; 33.4% had proliferative DR; 7.5%, 22.8%, and 9.5% had severe, moderate, and mild nonproliferative DR, respectively; 26.6% had no DR. The severity of DR was significantly associated with severity of DN, both by phenotypic category and by increasing serum creatinine concentration (χ2 = 658.14, df = 20; P < 0.0001). The sib–sib correlation for DR severity was 0.1358 in the total sample and 0.1224 when limited to the Mexican-American sample. Broad sense heritabilities for DR were 27% overall and 24% in Mexican-American families. The polygenic heritability of liability for proliferative DR approximated 25% in this FIND-Eye sample. CONCLUSIONS These data confirm that the severity of DR parallels the presence and severity of nephropathy in individuals with diabetes mellitus. The severity of DR in members of multiplex diabetic families appears to have a significant familial connection.
Medical anthropologists involved in clinical research are often asked to help explain patients' "noncompliance" with treatment recommendations. The clinical literature on "noncompliance" tends to problematize only the patient's perspective, treating the provider's perspective as an uncontroversial point of departure. Explicating the articulation between provider and patient assumptions, expectations, and perceptions in managing chronic illness is an area well suited to the unique perspective of medical anthropologists. In this article we present an analytical framework for contrasting patient and provider goals, strategies, and evaluation criteria in chronic illness management, using examples from research on type 2 diabetes care in South Texas. This approach goes beyond contrasting patient and provider concepts and explanations of the illness itself and examines their contrasting views within the dynamic process of long-term care. This approach may prove especially useful for research aimed at a clinical audience, since it maintains a clinically relevant focus while giving serious consideration to the patient's perspective.
Studies of self-care behaviors in the management of type 2 diabetes often focus on patient knowledge and motivation, without considering the role of practitioner orientations. Using an exploratory descriptive design, we conducted open-ended interviews with 51 type 2 diabetes patients and 35 practitioners from clinics in San Antonio and Laredo, Texas. We found critical differences between patient and practitioner goals, evaluations, and strategies in diabetes management, especially regarding such key concepts as "control" and "taking care of self". Practitioners' perspectives are rooted in a clinical context, emphasizing technical considerations, whereas patients' perspectives exist within a life-world context and foreground practical and experiential considerations. These result in very different approaches to treatment. Practitioners, presuming failed treatment indicates uncooperativeness, try to inform and motivate patients. The patients we interviewed, however, understood and were committed to type 2 diabetes self-care, but lacked full access to behavioral options due to their poverty and limited social power.
This study examined nonverbal communication in relation to electronic medical record (EMR) use during the medical interview. Six physicians were videotaped during their consultations with 50 different patients at a single setting Veterans Administration Hospital. Three different office spatial designs were identified and named 'open,' 'closed' and 'blocked'. The ;open' arrangement put physicians in a position to establish better eye contact and physical orientation than did the alternative 'closed' and 'blocked' office configurations. Physicians who accessed the EMR and took 'breakpoints' (short periods of no computer use and sustained eye contact with patients) used more nonverbal cues than physicians who tended to talk with their patients while continuously working on the computer. Long pauses in conversational turn taking associated with EMR use may have positively influenced doctor-patient communication. High EMR use interviews were associated with patients asking more questions than they did in low EMR use interviews. Implications for medical education and future research are discussed.
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