An Ethnographic Study of Patient Life Experience in Early-Stage Parkinson's Disease in the United States and Germany.

INTRODUCTION: Existing qualitative research on early-stage Parkinson's disease draws on patients' reported disease experience, aiming to capture the symptoms and impacts most relevant to patients living with the disease. As a complement to this research, the present study investigated the patient experience of early-stage Parkinson's disease from a holistic, ethnographic perspective. We explored the attitudes, beliefs, and social structures that shape how people understand and adapt to life with early-stage Parkinson's disease. METHODS: Researchers interviewed 30 people with early-stage Parkinson's disease, 10 relatives, and 10 neurologists and movement disorder specialists in the USA and Germany. Many of these interviews took place in-person, allowing researchers to spend time in participants' homes and witness their daily lives. A multidisciplinary team of social scientists, clinical researchers, and patient organization representatives led the mixed-methods study design and analysis. In-depth ethnographic interviews yielded qualitative insights, with a quantitative survey following to assess their prevalence in a larger sample of 150 patients. RESULTS: In addition to developing a patient life experience pathway of early-stage Parkinson's disease, we identified five key thematic findings that provide insight into how the clinical features of the disease become meaningful to patients on the context of their daily lives, family relations, and subjective well-being: (1) People with early-stage Parkinson's disease start coming to terms with their disease before receiving a medical diagnosis; (2) Acceptance is not a finalized achievement, but a cyclical process; (3) People with early-stage Parkinson's disease "live in the moment" to make the future more manageable; (4) Slowing disease progression is an important goal driving the actions of people with early-stage Parkinson's; and (5) People with early-stage Parkinson's disease value information that is grounded in lived experience and relevant to their stage of disease progression. CONCLUSION: This holistic, ethnographic approach to patient life experience provided five key thematic findings that complement insights from qualitative and quantitative datasets on early-stage Parkinson's disease. An enhanced understanding of how early-stage Parkinson's symptoms impact patients' health-related quality of life and their broader social lives can help us better understand how patients make decisions about their usage of healthcare services and therapies.

This study aimed to understand the experience of people living with early-stage Parkinson's. In addition to looking at how symptoms impact people's daily lives, this research examined how people think about and give meaning to early-stage Parkinson's. The first step was to conduct interviews with people with early-stage Parkinson's, their relatives, and doctors. These interviews covered topics such as how people with early-stage Parkinson's are eventually diagnosed, where they go for information, and how they approach the future. In the second step recordings and transcripts of the interviews were analyzed in detail. The ideas and themes that emerged from analysis were used to create a picture of how people experience early-stage Parkinson's as part of their broader lives. Researchers identified five key insights: (1) people often begin to come to terms with Parkinson's before being diagnosed; (2) accepting Parkinson's is an ongoing process; (3) people with early-stage Parkinson's value living in the moment; (4) people with early-stage Parkinson's see slowing the worsening of the disease as an important goal; and (5) learning from the first-hand experience of others can be more valuable than scientific information. Ultimately, this research shows that understanding how early-stage Parkinson's fits into people's everyday lives can help researchers, doctors, and patient organizations provide more effective support and care.

[Young adult onset diabetes mellitus. Clinical differences between MODY-3 and type 2 diabetes mellitus]. / Diabetes mellitus diagnosticada en el adulto joven. Diferencias clínicas entre MODY-3 y diabetes mellitus de tipo 2.

BACKGROUND AND OBJECTIVE: The aim of our study was to evaluate the clinical and metabolic characteristics of type 2 diabetes diagnosed in young adults (T2DYA) and in subjects with mutations in HNF-1* gene. PATIENTS AND METHOD: We included 8 subjects diagnosed of MODY-3 (3 women) at ages 25-45. They were matched (1/2) by gender and age of diagnosis with 16 (6 women) T2DYA. Clinical and metabolic characteristics, as well as C-reactive protein levels, were evaluated. RESULTS: There were not differences in terms of age, disease duration and family history of type 2 diabetes. MODY-3 subjects had a lower body mass index -24 (3) vs. 31 (4) kg/m2; P = .000- and in a lower proportion they had hypertension and required insulin treatment. High density lipoprotein-cholesterol value was higher -50 (4) vs. 43 (2) mg/dl; P = .000) and HbA1c -7.1% (1,0%) vs. 8.2% (1,2%); P = .036-, triglycerides -147 (17) vs. 184 (20) mg/dl; P = .000- and C-reactive protein -0.6 (0,2) vs. 1.7 (0,6) mg/l; P = .000- levels were lower in subjects with MODY-3. CONCLUSIONS: The presence of clinical and metabolic features related to metabolic syndrome could be of help in order to differentiate between T2DYA and diabetes due to mutations in HNF-1*.

A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity.

Maturity-onset diabetes of the young (MODY) is a heterogeneous single gene disorder characterized by non-insulin-dependent diabetes, an early onset and autosomal dominant inheritance. Mutations in six genes have been shown to cause MODY. Approximately 15-20% of families fitting MODY criteria do not have mutations in any of the known genes. These families provide a rich resource for the identification of new MODY genes. This will potentially enable further dissection of clinical heterogeneity and bring new insights into mechanisms of beta-cell dysfunction. To facilitate the identification of novel MODY loci, we combined the results from three genome-wide scans on a total of 23 families fitting MODY criteria. We used both a strict parametric model of inheritance with heterogeneity and a model-free analysis. We did not identify any single novel locus but provided putative evidence for linkage to chromosomes 6 (nonparametric linkage [NPL]score 2.12 at 71 cM) and 10 (NPL score 1.88 at 169-175 cM), and to chromosomes 3 (heterogeneity LOD [HLOD] score 1.27 at 124 cM) and 5 (HLOD score 1.22 at 175 cM) in 14 more strictly defined families. Our results provide evidence for further heterogeneity in MODY.

Impaired glucose tolerance: is there a case for pharmacologic intervention?

Impaired glucose tolerance (IGT) is determined by measuring plasma glucose levels 2 hours after glucose loading in the oral glucose tolerance test. There is good evidence from epidemiologic and prospective trials [e.g. Diabetes Epidemiology: Collaborative Analysis of Diagnostic Criteria in Europe (DECODE)] linking IGT with the development of type 2 diabetes mellitus and cardiovascular disease (CVD). IGT is characterized by an increase in postprandial glucose levels, which is considered the earliest metabolic abnormality in type 2 diabetes mellitus. It is one of a series of risk factors for CVD (hypertension, high triglyceride levels, low high-density lipoprotein-cholesterol and central obesity), known as the metabolic syndrome. The different factors making up this syndrome are intimately related. An impaired lipid profile can contribute to insulin resistance, as IGT may play a pathogenic role on other cardiovascular risk factors. IGT is the first easily identifiable step in the pathophysiology of type 2 diabetes mellitus. It is associated with high risk for type 2 diabetes mellitus and subsequent vascular morbidity and mortality. It is currently unknown whether treating IGT will reduce the incidence of macrovascular complications, as studies addressing this issue have yet to be conducted. Therefore, the main reason to identify and treat IGT is to prevent or delay the onset of type 2 diabetes mellitus. It has been demonstrated that lifestyle intervention with diet and exercise can reduce the incidence of type 2 diabetes mellitus. Pharmacologic intervention with metformin and acarbose is also effective. Other drugs, such as those indicated to treat other parameters of the metabolic syndrome, may also be useful. We can now be assured that prevention or delay of onset of type 2 diabetes mellitus is possible in individuals with IGT, either by changes in lifestyle or by pharmacotherapy.

[Coronary risk assessment in subjects with type 2 diabetes mellitus. General population-based scores or specific scores?]. / Estimación del riesgo coronario en pacientes con diabetes mellitus tip 2. Escalas de población general o escales específicas?

Coronary risk in patients with type 2 diabetes mellitus can be calculated using population-based scores or diabetes-specific scores. Our objective was to compare the results with both scores in a group of patients with type 2 diabetes and no history of cardiovascular disease. We analyzed the results for 101 patients aged 40 to 65 years with type 2 diabetes and no prior cardiovascular disease. Two scales were used, one based on the general population (Framingham function adapted from the REGICOR study), and the other based on the population with type 2 diabetes mellitus (UKPDS risk engine). The average 10-year likelihood of coronary events was 5.8 (2.5)% and 15.7 (8.4)% for the REGICOR risk score and the UKPDS risk score, respectively (P<.001), with a Pearson correlation coefficient of 0.525 (P<.01). Risk was higher in men (19.2 [8.7]% based on the UKPDS score, and 5.6 [2.8]% based on the REGICOR score, P<.001). The figures for women were 11.3 [5.9]% and 5.9 [2.1]% with the UKPDS and REGICOR scores, respectively (P<.001). Our results suggest that substantially different findings are obtained when general population-based scores or specific scores are used to assess cardiovascular risk in subjects with type 2 diabetes.

[Screening ability of a questionnaire designed for the detection of diabetes mellitus in hospital outpatients clinic]. / Detección de la diabetes mellitus en consultas externas hospitalarias. Utilidad de un cuestionario de cribado.

BACKGROUND AND OBJECTIVE: The socio-economical burden of type 2 diabetes mellitus (DM2) recommends its screening when the disease is suspected. In the present study we aimed to evaluate: the results of the oral glucose tolerance test (OGTT) normally indicated in hospital outpatient clinics when diabetes is suspected, and the efficacy of the American Diabetes Association (ADA) diabetes risk questionnaire to detect glucose tolerance abnormalities. PATIENTS AND METHOD: All subjects with an indication of OGTT were included consecutively. Individuals filled up a questionnaire including the ADA items. The sensitivity and specificity of the questionnaire were calculated. RESULTS: Two hundred and twenty nine subjects were studied (62.9% women): 44.1% had normal glucose tolerance (NGT) with normal fasting glucose. Moreover, 6.5%, 25.8% and 23.6% showed an impaired fasting glucose, impaired glucose tolerance and diabetes, respectively. According to the questionnaire, 45.8% of subjects undergoing the OGTT had a positive risk of diabetes. The questionnaire revealed a sensitivity = 72.2%, specificity = 60.6% and a positive predictive value = 37.1%. Age was the only variable that increased the risk of DM (odds ratio = 3.48, p = 0.0001). CONCLUSIONS: The important proportion of patients with NGT found in our study suggests the need to improve the indication of a diagnosis test when diabetes is suspected. One possibility would be to validate a questionnaire to detect the risk of diabetes in our own area.

[Evaluation on the compliance of the metabolic control aims in outpatients with type 2 diabetes mellitus in Spain. The TranSTAR study]. / Evaluación del cumplimiento de los objetivos de control metabólico de la diabetes mellitus tipo 2. Estudio TranSTAR.

BACKGROUND AND OBJECTIVE: A good metabolic control of patients with type 2 diabetes mellitus (DM2) will likely contribute to a decrease of their cardiovascular (CV) risk. Our aim was (1) to evaluate the degree of metabolic control with regard to glycemia, lipidemia and blood pressure (BP) and (2) to describe the prevalence of hypertension (HT) and hyperlipidemia in DM2 outpatients. PATIENTS AND METHOD: TranSTAR is an on-line, case-control, cross-sectional study, which was performed in outpatient from all around Spain. Data on basal glycemia (BG), glycosilated hemoglobin (A1C), lipid profile, BP and personal history of CV diseases were obtained. The postprandial glycemia (PPG) was measured in a capillary sample at 1-3 hours post-meal. Standards of metabolic control of the Sociedad Española de Diabetes were applied to evaluate the degree of glycemic, lipidemic and BP control. RESULTS: 371 pairs of patients were studied. In DM2 patients, a bad control was observed in 82.1% (CI 95%, 77.9-86.3) of them according to BG, in 88.4% (85.1-91.7) according to PPG and in 18.8% (14.3-23.3) according to A1C. An insufficient control in lipid profile was noticed in 63.3% (56.6-70.0) and in BP in 69.5% (64.2-74.8). 9.2% (0.9-17.5) and 20.5% (12.8-28.2) DM2 subjects had an unknown HT and hyperlipidemia, respectively. CONCLUSION: The rate of DM2 outpatients with a bad metabolic control is very high. The availability of data from our own population should contribute to a better clinical management of these patients.