Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993-2004).
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ABSTRACT:
SUBMITTER: Bernhardt C
PROVIDER: S-EPMC2986171 | biostudies-other | 2009 Mar
REPOSITORIES: biostudies-other
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Project description:BackgroundWe aimed to investigate the association between preterm birth and body composition at 6, 18, and 30 years of age using data from three population-based birth cohort studies.MethodsGestational age (GA), defined by the date of the last menstrual period (categorized in ≤33, 34-36, and ≥ 37 weeks), was gathered in the first 24-h after delivery for all live births occurring in the city of Pelotas, Brazil, in 2004, 1993 and 1982. Body composition was assessed by air-displacement plethysmography. Outcomes included fat mass (FM, kg), percent FM (%FM), FM index (FMI, kg/m2), fat-free mass (FFM, kg); percent FFM (%FFM), FFM index (FFMI, kg/m2), body mass index (BMI, kg/m2 at 18 years in the 1993 cohort and 30 years in the 1982 cohort), and BMI Z-score (at 6 years in the 2004 cohort). We further explored the association of birth weight for GA with body composition indicators and BMI. Crude and adjusted linear regressions provided beta coefficients with 95% confidence intervals (95%CI).ResultsA total of 3036, 3027, and 3369 participants, respectively, from the 2004, 1993, and 1982 cohorts were analyzed. At 6 years, preterm boys (born at 34-36 weeks) presented lower adjusted mean of FM (β = - 0.80 kg, - 1.45;-0.16, p = 0.046), %FM (β = - 2.39%, - 3.90;-0.88, p = 0.008), FMI (β = - 0.70 kg/m2, - 1.13;-0.27, p = 0.004) as well as lower FFM (β = - 0.4 kg, - 0.77; - 0.12, p = 0.010) and FFMI (β = - 0.3 kg/m2, - 0.46;-0.10, p < 0.001), and BMI Z-score (β = - 0.69,; - 0.99;-0.40, p < 0.001); but higher %FFM (β = 2.4%, 0.87;-3.90, p = 0.008), when compared to boys born at term (≥37). At 30 years, FM (15.7 kg, 0.25;31.1, p = 0.102) was higher among males born at ≤33 weeks. No association was observed for females from the three cohorts and for 18-year-old males. The association of birth weight for GA with body composition and BMI was not significant in any cohort. At 6 years, SGA boys had lower FFMI than boys AGA.ConclusionsOur results suggest that preterm birth is associated with decreased body fat and fat-free mass in childhood but higher fat mass in adulthood. Nevertheless, results were only significant for males. SGA boys also showed lower FFMI.
| S-EPMC7871570 | biostudies-literature
Project description:ObjectiveTo describe the consumption of ultra-processed foods according to demographic and socioeconomic characteristics in three birth cohorts.DesignCross-sectional analysis.SettingData from the 2004, 1993 and 1982 Pelotas Birth Cohorts were used at 11, 22 and 30 years, respectively, collected between 2012 and 2015. Outcome was the relative contribution of ultra-processed foods from the total daily energy intake. Maternal-independent variables were self-reported skin colour, schooling, age and family income (obtained in the perinatal study), and variables of the cohort member, sex, skin colour, schooling and current family income (the last two obtained at the 11-, 22- and 30-year follow-ups of the respective cohorts). We calculated crude and adjusted means of the outcome for the whole cohorts and according to the independent variables.Participants11-, 22- and 30-year-old individuals.ResultsDaily energetic contribution from ultra-processed foods was higher in the younger cohort (33·7, 29·8 and 25·1 % at 11, 22 and 30 years, respectively). Maternal schooling and family income at birth showed an inverse dose-response relationship at 11 and 22 years, but a positive dose-response at 30 years. Female sex, lower schooling and family income at 22 years and higher schooling at 30 years were associated to a higher contribution from ultra-processed foods in the daily energy intake.ConclusionsInformation from food and nutrition policies needs a higher dissemination, mostly among women and population groups of lower income and schooling, including its promotion in media and health services, aiming for a decreased consumption of ultra-processed foods.
| S-EPMC10195471 | biostudies-literature
Project description:BackgroundIt is well known in Huntington's disease that cytosine-adenine-guanine expansion and age at study entry are predictive of the timing of motor diagnosis. The goal of this study was to assess whether additional motor, imaging, cognitive, functional, psychiatric, and demographic variables measured at study entry increased the ability to predict the risk of motor diagnosis over 12 years.MethodsOne thousand seventy-eight Huntington's disease gene-expanded carriers (64% female) from the Neurobiological Predictors of Huntington's Disease study were followed up for up to 12 y (mean = 5, standard deviation = 3.3) covering 2002 to 2014. No one had a motor diagnosis at study entry, but 225 (21%) carriers prospectively received a motor diagnosis. Analysis was performed with random survival forests, which is a machine learning method for right-censored data.ResultsAdding 34 variables along with cytosine-adenine-guanine and age substantially increased predictive accuracy relative to cytosine-adenine-guanine and age alone. Adding six of the common motor and cognitive variables (total motor score, diagnostic confidence level, Symbol Digit Modalities Test, three Stroop tests) resulted in lower predictive accuracy than the full set, but still had twice the 5-y predictive accuracy than when using cytosine-adenine-guanine and age alone. Additional analysis suggested interactions and nonlinear effects that were characterized in a post hoc Cox regression model.ConclusionsMeasurement of clinical variables can substantially increase the accuracy of predicting motor diagnosis over and above cytosine-adenine-guanine and age (and their interaction). Estimated probabilities can be used to characterize progression level and aid in future studies' sample selection.
| S-EPMC4795466 | biostudies-literature
Project description:The inherited prion diseases (IPD) are a group of untreatable neurodegenerative diseases that segregate as autosomal dominant traits. Mutations in the prion protein gene (PRNP) were first found to be causal of IPD in 1989, before the molecular genetic characterisation of any other neurodegenerative disease. Predictive testing for IPD has subsequently been carried out at a single UK clinical and research centre for 22 years. We have analysed the uptake, consequences and factors influencing the decision for predictive testing over this period. In all, 104 predictive tests were done on individuals at 50% risk, compared with 135 positive diagnostic tests. Using genealogies from clinical records, we estimated that 23% of those at 50% risk have completed testing. There was no gender bias, and unsurprisingly, there was a slight excess of normal results because some patients were already partly through the risk period because of their age. An unexpectedly large number of patients developed symptoms shortly after predictive testing, suggesting that undisclosed early symptoms of disease may prompt some patients to come forward for predictive testing. Fifteen per cent of predictive tests were done >10 years after molecular diagnosis in a proband. A strong determinant of the timing of testing in these patients was a second diagnosis in the family. IPD may generate infectious prions that might be transmitted by surgical procedures; however, we found no evidence that public health information influenced decisions about predictive testing.
| S-EPMC4091984 | biostudies-literature
Project description:The point of departure for the present work is the observation that, in comparison with Anglo-American countries or the Netherlands, Germany was responsible for only a marginal number of international publications in the field of medical education research before 2004. Recent years, however, have seen an increase in the importance of medical education research in Germany. The objective of this article is to evaluate the extent to which this trend can be substantiated by increased German publishing activity since the year 2004 in international, English-language journals in the subject area of "medical education research".In the framework of a literature and content analysis, German-author articles from the years 2004 to 2013 in six international, English-language medical education research journals were evaluated. In order to obtain an overview of German research activity in this area, all project and original works with German first and last authors were identified and subjected to a more in-depth content analysis.In total, 10,055 articles were examined. The evaluation shows that between the years 2004 and 2013 179 articles (of which 145 are project or original works) by German authors were published in the journals examined. Fluctuations over the course of time were evidenced. The project and original works are primarily cross-sectional studies (27.8%) and randomised control studies (25.6%) on the subject of "teaching and learning methods" (43.6%).In comparison with the years 2004-2008, a significant rise can be seen in the number of publications by German education researchers in international journals since the year 2009.
| S-EPMC4580754 | biostudies-other
Project description:Objectives: To compare complications associated with percutaneous gastrostomies performed using PUSH and PULL techniques, whether endoscopic (PEG) or radiological (PRG), in a tertiary-level hospital. Methods: This was a prospective observational study. Adult patients who underwent percutaneous PULL or PUSH gastrostomy using PEG or PRG techniques at the Virgen del Rocio University Hospital and subsequently followed up in the Nutrition Unit between 2009-2020 were included. X2 tests or Fisher's test were used for the comparison of proportions when necessary. Univariate analysis was conducted to study risk factors for PRG-associated complications. Results: n = 423 (PULL = 181; PUSH = 242). The PULL technique was associated with a higher percentage of total complications (37.6% vs. 23.8%; p = 0.005), exudate (18.2% vs. 11.2%; p = 0.039), and irritation (3.3% vs. 0%; p = 0.006). In the total sample, there were 5 (1.1%) cases of peritonitis, 3 (0.7%) gastrocolic fistulas, and 1 (0.2%) death due to complications associated with gastrostomy. Gender, age, and different indications were not risk factors for a higher number of complications. The most common indications were neurological diseases (35.9%), head and neck cancer (29%), and amyotrophic lateral sclerosis (17.2%). Conclusions: The PULL technique was associated with more total complications than the PUSH technique, but both were shown to be safe techniques, as the majority of complications were minor.
| S-EPMC11012573 | biostudies-literature
Project description:Background:This study examined the validity of the FitnessGram® criterion-reference cut-points for cardiorespiratory fitness (CRF) based on two samples of US adolescents (aged 12-15 years). This study also established the CRF cut-points for metabolically healthy weight status based on a recent national fitness survey for the purposes of cross-validating with pre-existing cut-points including FitnessGram. Methods:Two cross-sectional data from the 2003-2004 National Health and Nutrition Examination Survey (NHANES) (n = 378) and 2012 NHANES National Youth Fitness Survey (NNYFS) (n = 451) were used. CRF (estimated V? O2max in mL/kg/min) was estimated from a submaximal exercise test. CRF categories based on FitnessGram cut-points, a clustered cardiometabolic risk factors score and weight status were used. A series of Receiver Operating Characteristic (ROC) curve analyses were conducted to identify age- and sex-specific CRF cut-points that were optimal for metabolically healthy weight status. Results:Based on FitnessGram cut-points, having high risk CRF, but not low risk CRF, was associated with high cardiometabolic risk (OR = 3.17, 95% CI = 1.14-8.79) and unhealthy weight status (OR = 5.81, 95% CI = 3.49-9.68). The optimal CRF cut-points for 12-13-year-olds and 14-15-year-olds were 40 and 43 mL/kg/min in males and 39 and 34 mL/kg/min in females, respectively. Compared to meeting new CRF cut-points, not meeting new CRF cut-points was associated with higher odds of showing high cardiometabolic risk (OR = 2.91, 95% CI = 1.47-5.77) and metabolically unhealthy weight status (OR = 4.47, 95% CI = 2.83-7.05). Conclusion:FitnessGram CRF cut-point itself has rarely been scrutinized in previous literature. Our findings provide partial support for FitnessGram based on two samples of US adolescents. CRF cut-points established in this study supports international criterion-referenced cut-points as well as FitnessGram cut-points only for males. FitnessGram should be continuously monitored and scrutinized using different samples.
| S-EPMC7248668 | biostudies-literature
Project description:Primary culture of marrow-derived mesenchymal cells vs marrow-derived MSCs with a prolonged life span vs MSCs with a prolonged life span after neuronal induction. Keywords: repeat sample
2004-12-28 | GSE2110 | GEO
Project description:This multi-centre UK study assesses the impact of predictive testing for breast and ovarian cancer predisposition genes (BRCA1/2) in the clinical context. In the year following predictive testing, 261 adults (59 male) from nine UK genetics centres participated; 91 gene mutation carriers and 170 noncarriers. Self-report questionnaires were completed at baseline (pre-genetic testing) and 1, 4 and 12 months following the genetic test result. Men were assessed for general mental health (by general health questionnaire (GHQ)) and women for general mental health, cancer-related worry, intrusive and avoidant thoughts, perception of risk and risk management behaviour. Main comparisons were between female carriers and noncarriers on all measures and men and women for general mental health. Female noncarriers benefited psychologically, with significant reductions in cancer-related worry following testing (P<0.001). However, younger female carriers (<50 years) showed a rise in cancer-related worry 1 month post-testing (P<0.05). This returned to pre-testing baseline levels 12 months later, but worry remained significantly higher than noncarriers throughout (P<0.01). There were no significant differences in GHQ scores between males and females (both carriers and noncarriers) at any time point. Female carriers engaged in significantly more risk management strategies than noncarriers in the year following testing (e.g. mammograms; 92% carriers vs 30% noncarriers). In the 12 months post-testing, 28% carriers had bilateral risk-reducing mastectomy and 31% oophorectomy. Oophorectomy was confined to older (mean 41 yrs) women who already had children. However, worry about cancer was not assuaged by surgery following genetic testing, and this requires further investigation. In all, 20% of female carriers reported insurance problems. The data show persistent worry in younger female gene carriers and confirm changes in risk management consistent with carrier status. Men were not adversely affected by genetic testing in terms of their general mental health.
| S-EPMC2410052 | biostudies-other
Project description:BackgroundPost-concussion symptoms (PCS) are a common consequence of pediatric traumatic brain injury (pTBI). They include cognitive, emotional, and physical disturbances. To address the lack of age-adapted instruments assessing PCS after pTBI, this study examines the psychometric properties of the German 17-item post-TBI version of the Postconcussion Symptom Inventory (PCSI-SR8) in children aged 8-12 years. The study also aims to establish reference values based on data from a pediatric general population sample to better estimate the prevalence and clinical relevance of PCS after pTBI in clinical and research settings.MethodsA total of 132 children aged 8-12 years from a post-acute TBI sample and 1,047 from a general population sample were included in the analyses. The questionnaire was translated from English into German and linguistically validated using forward and backward translation and cognitive debriefing to ensure comprehensibility of the developed version. Reliability and validity were examined; descriptive comparisons were made with the results of the English study. Measurement invariance (MI) analyses between TBI and general population samples were conducted prior to establishing reference values. Factors contributing to the total and scale scores of the PCSI-SR8 were identified using regression analyses. Reference values were calculated using percentiles.ResultsMost children (TBI: 83%; general population: 79%) rated at least one symptom as "a little" bothersome. The German PCSI-SR8 met the psychometric assumptions in both samples and was comparable to the English version. The four-factor structure comprising physical, emotional, cognitive, and fatigue symptoms could be replicated. The MI assumption was retained. Therefore, reference values could be provided to determine the symptom burden of patients in relation to a comparable general population. Clinical relevance of reported symptoms is indicated by a score of 8, which is one standard deviation above the mean of the general population sample.ConclusionThe German version of the PCSI-SR8 is suitable for assessment of PCS after pTBI. The reference values allow for a more comprehensive evaluation of PCS following pTBI. Future research should focus on validation of the PCSI-SR8 in more acute phases of TBI, psychometric examination of the pre-post version, and child-proxy comparisons.
| S-EPMC10693295 | biostudies-literature