Evaluating ethnic variations in the risk of infections in people with prediabetes and type 2 diabetes: a matched cohort study

Objective People living with type 2 diabetes (T2DM) are at higher infection risk, but it is unknown how this risk varies by ethnicity, or whether the risk is similarly observed in people with non-diabetic hyperglycaemia (“prediabetes”). Research Design and Methods We included 527,151 patients in England with T2DM and 273,216 with prediabetes, aged 18-90 and alive on 1st January 2015 on the Clinical Practice Research Datalink. Each were matched to 2 patients without diabetes or prediabetes on age, sex and ethnic group. Infections during 2015-9 were collated from primary care and linked hospitalisation records. Infection incidence rate ratios (IRR) for prediabetes or T2DM were estimated, unadjusted and adjusted for confounders. Results People with T2DM had increased risk for infections presenting in primary care (IRR=1.51, 95%CI 1.51-1.52) and hospitalisations (IRR=1.91, 1.90-1.93). This was broadly consistent overall within each ethnic group, though younger White T2DM patients (age <50) experienced a greater relative risk. Adjustment for socio-economic deprivation, smoking and co-morbidity attenuated associations, but IRRs remained similar by ethnicity. For prediabetes, a significant but smaller risk was observed (primary care IRR=1.35 1.34-1.36, hospitalisation IRR=1.33, 1.31-1.35); these were similar within each ethnicity for primary care infections, but less consistent for infection related hospitalisations. Conclusions The elevated infection risk for people with T2DM appears similar for different ethnic groups and is also seen in people with prediabetes. Infections are a substantial cause of ill-health and health service use for people with prediabetes and T2DM. This has public health implications with rising prediabetes and diabetes prevalence

Exploring the use of adjusted body mass index thresholds based on equivalent insulin resistance for defining overweight and obesity in UK South Asian children

Background Body mass index (BMI) overweight/obesity thresholds in South Asian (SA) adults, at equivalent type-2 diabetes risk are lower than for white Europeans (WE). We aimed to define adjusted overweight/obesity thresholds for UK–SA children based on equivalent insulin resistance (HOMA-IR) to WE children. Methods In 1138 WE and 1292 SA children aged 9.0–10.9 years, multi-level regression models quantified associations between BMI and HOMA-IR by ethnic group. HOMA-IR levels for WE children were calculated at established overweight/obesity thresholds (at 9.5 years and 10.5 years), based on UK90 BMI cut-offs. Quantified associations in SA children were then used to estimate adjusted SA weight-status thresholds at the calculated HOMA-IR levels. Results At 9.5 years, current WE BMI overweight and obesity thresholds were 19.2 kg/m2, 21.3 kg/m2 (boys) and 20.0 kg/m2, 22.5 kg/m2 (girls). At equivalent HOMA-IR, SA overweight and obesity thresholds were lower by 2.9 kg/m2 (95% CI: 2.5–3.3 kg/m2) and 3.2 kg/m2 (95% CI: 2.7–3.6 kg/m2) in boys and 3.0 kg/m2 (95% CI: 2.6–3.4 kg/m2) and 3.3 kg/m2 (95% CI: 2.8–3.8 kg/m2) in girls, respectively. At these lower thresholds, overweight/obesity prevalences in SA children were approximately doubled (boys: 61%, girls: 56%). Patterns at 10.5 years were similar. Conclusions SA adjusted overweight/obesity thresholds based on equivalent IR were markedly lower than BMI thresholds for WE children, and defined more than half of SA children as overweight/obese

Early onset lactating adenoma and the role of breast MRI: a case report

<p>Abstract</p> <p>Introduction</p> <p>Lactating adenoma is a benign condition, representing the most prevalent breast lesion in pregnant women and during puerperium; in this paper, a case of a woman with lactating adenoma occurring during the first trimester of pregnancy is reported. There have been no reports in the literature, according to our search, focusing on magnetic resonance imaging findings in cases of lactating adenomas. Also the early onset of the lesion during the first trimester of pregnancy is quite unusual and possibly unique.</p> <p>Case presentation</p> <p>We report the case of a primiparous 30-year-old Caucasian woman, who noted an asymptomatic lump within her left breast during the 9^thweek of gestation, slightly increasing in size over the next few weeks. Ultrasound demonstrated a hypoecoic solid mass, hypervascularized and measuring 4 cm. On magnetic resonance imaging, performed in the first month after delivery, the lesion appeared as an ovoidal homogeneous mass, with regular margins and a significant contrast enhancement indicative of a giant adenoma.</p> <p>Conclusion</p> <p>Magnetic resonance imaging could play an important role in the differential diagnosis of pregnancy-related breast lumps, particularly during puerperium, thus avoiding unnecessary surgical biopsies.</p

Practical Tools to Implement Massive Parallel Pyrosequencing of PCR Products in Next Generation Molecular Diagnostics

Despite improvements in terms of sequence quality and price per basepair, Sanger sequencing remains restricted to screening of individual disease genes. The development of massively parallel sequencing (MPS) technologies heralded an era in which molecular diagnostics for multigenic disorders becomes reality. Here, we outline different PCR amplification based strategies for the screening of a multitude of genes in a patient cohort. We performed a thorough evaluation in terms of set-up, coverage and sequencing variants on the data of 10 GS-FLX experiments (over 200 patients). Crucially, we determined the actual coverage that is required for reliable diagnostic results using MPS, and provide a tool to calculate the number of patients that can be screened in a single run. Finally, we provide an overview of factors contributing to false negative or false positive mutation calls and suggest ways to maximize sensitivity and specificity, both important in a routine setting. By describing practical strategies for screening of multigenic disorders in a multitude of samples and providing answers to questions about minimum required coverage, the number of patients that can be screened in a single run and the factors that may affect sensitivity and specificity we hope to facilitate the implementation of MPS technology in molecular diagnostics

Metabolic risk factors, physical activity and physical fitness in azorean adolescents: a cross-sectional study

<p>Abstract</p> <p>Background</p> <p>The prevalence of metabolic syndrome has increased over the last few decades in adolescents and has become an important health challenge worldwide. This study analyzed the relationships between metabolic risk factors (MRF) and physical activity (PA) and physical fitness (PF) in a sample of Azorean adolescents.</p> <p>Methods</p> <p>A cross-sectional school-based study was conducted on 417 adolescents (243 girls) aged 15-18 from the Azorean Islands, Portugal. Height, weight, waist circumference, fasting glucose, HDL-cholesterol, triglycerides, and blood pressure were measured. A sum of MRF was computed, and adolescents were classified into three groups: no MRF, one MRF and two or more MRF. PA was assessed by a sealed pedometer. PF was assessed using five tests from the Fitnessgram Test Battery. Dietary intake was obtained using a semi-quantitative food frequency questionnaire.</p> <p>Results</p> <p>Mean daily steps for girls and boys were 7427 ± 2725 and 7916 ± 3936, respectively. Fifty-nine percent of the adolescents showed at least one MRF and 57.6% were under the healthy zone in the 20 m Shuttle Run Test. Ordinal logistic regression analysis showed that after adjusting for sex, body mass index, socio-economic status and adherence to a Mediterranean diet, adolescents who were in the highest quartile of the pedometer step/counts (≥9423 steps/day) and those who achieved the healthy zone in five tests were less likely to have one or more MRF (OR = 0.56;95%CI:0.33-0.95; OR = 0.55;95%CI:0.31-0.98, respectively).</p> <p>Conclusions</p> <p>Daily step counts and PF levels were negatively associated with having one or more MRF among Azorean adolescents. Our findings emphasize the importance of promoting and increasing regular PA and PF to reduce the public health burden of chronic diseases associated with a sedentary lifestyle.</p

Overweight at age two years in a multi-ethnic cohort (ABCD study): the role of prenatal factors, birth outcomes and postnatal factors

<p>Abstract</p> <p>Background</p> <p>Childhood overweight/obesity is a major public health problem worldwide which disproportionally affects specific ethnic groups. Little is known about whether such differences already exist at an early age and which factors contribute to these ethnic differences. Therefore, the present study assessed possible ethnic differences in overweight at age 2 years, and the potential explanatory role of prenatal factors, birth outcomes and postnatal factors.</p> <p>Methods</p> <p>Data were derived from a multi-ethnic cohort in the Netherlands (the ABCD study). Weight and height data of 3,156 singleton infants at age 2 years were used. Five ethnic populations were distinguished: Dutch native (n = 1,718), African descent (n = 238), Turkish (n = 162), Moroccan (n = 245) and other non-Dutch (n = 793). Overweight status was defined by the International Obesity Task Force guidelines. The explanatory role of prenatal factors, birth outcomes and postnatal factors in ethnic disparities in overweight (including obesity) was assessed by logistic regression analysis.</p> <p>Results</p> <p>Compared to the native Dutch (7.1%), prevalence of overweight was higher in the Turkish (19.8%) and Moroccan (16.7%) group, whereas the prevalence was not increased in the African descent (9.2%) and other non-Dutch (8.8%) group. Although maternal pre-pregnancy body mass index partly explained the ethnic differences, the odds ratio (OR) of being overweight remained higher in the Turkish (OR: 2.66; 95%CI: 1.56-4.53) and Moroccan (OR: 2.11; 95%CI: 1.31-3.38) groups after adjusting for prenatal factors. The remaining differences were largely accounted for by weight gain during the first 6 months of life (postnatal factor). Maternal height, birth weight and gender were independent predictors for overweight at age 2 years, but did not explain the ethnic differences.</p> <p>Conclusion</p> <p>Turkish and Moroccan children in the Netherlands have 2- to 3-fold higher odds for being overweight at age 2 years, which is largely attributed to maternal pre-pregnancy BMI and weight gain during the first 6 months of life. Further study on the underlying factors of this early weight gain is required to tackle ethnic differences in overweight among these children.</p

Continuous use of intermittent bladder catheterization - can social support contribute?

OBJECTIVE: to investigate the factors affecting the adequate continuous use of intermittent catheterization and its relation with social support.METHOD: sectional, descriptive and correlational study involving 49 patients with neuropathic bladder caused by spinal cord injury.RESULTS: almost all (92%) participants continued the intermittent catheterization, but 46.9% made some changes in the technique. The complications (28.6% of the sample) were mainly infection and vesicolithiasis. There were high scores for social support in relation to people that were part of the patient's social support.CONCLUSION: All of them noticed great support from the family, but not from the society in general. The difficulties were related to the lack of equipment and inadequate infrastructure, leading to changes that increased urologic complications

The Netherlands Arrhythmogenic Cardiomyopathy Registry: design and status update

Background Clinical research on arrhythmogenic cardiomyopathy (ACM) is typically limited by small patient numbers, retrospective study designs, and inconsistent definitions. Aim To create a large national ACM patient cohort with a vast amount of uniformly collected high-quality data that is readily available for future research. Methods This is a multicentre, longitudinal, observational cohort study that includes (1) patients with a definite ACM diagnosis, (2) at-risk relatives of ACM patients, and (3) ACM-associated mutation carriers. At baseline and every follow-up visit, a medical history as well information regarding (non-)invasive tests is collected (e. g. electrocardiograms, Holter recordings, imaging and electrophysiological studies, pathology reports, etc.). Outcome data include (non-)sustained ventricular and atrial arrhythmias, heart failure, and (cardiac) death. Data are collected on a research electronic data capture (REDCap) platform in which every participating centre has its own restricted data access group, thus empowering local studies while facilitating data sharing. Discussion The Netherlands ACM Registry is a national observational cohort study of ACM patients and relatives. Prospective and retrospective data are obtained at multiple time points, enabling both cross-sectional and longitudinal research in a hypothesis-generating approach that extends beyond one specific research question. In so doing, this registry aims to (1) increase the scientific knowledge base on disease mechanisms, genetics, and novel diagnostic and treatment strategies of ACM; and (2) provide education for physicians and patients concerning ACM, e. g. through our website (www.acmregistry.nl) and patient conferences

Allelic diversity of S‑RNase alleles in diploid potato species

S-ribonucleases (S-RNases) control the pistil specificity of the self-incompatibility (SI) response in the genus Solanum and several other members of the Solanaceae. The nucleotide sequences of S-RNases corresponding to a large number of S-alleles or S-haplotypes have been characterised. However, surprisingly few S-RNase sequences are available for potato species. The identification of new S-alleles in diploid potato species is desirable as these stocks are important sources of traits such as biotic and abiotic resistance. S-RNase sequences are reported here from three distinct diploid types of potato: cultivated Solanum tuberosum Group Phureja, S. tuberosum Group Stenotomum, and the wild species Solanum okadae. Partial S-RNase sequences were obtained from pistil RNA by RT-PCR or 3’RACE (Rapid Amplification of cDNA Ends) using a degenerate primer. Full length sequences were obtained for two alleles by 5’RACE. Database searches with these sequences, identified sixteen S-RNases in total, all of which are novel. The sequence analysis revealed all the expected features of functional S-RNases. Phylogenetic analysis with selected published S-RNase and S-like-RNase sequences from the Solanaceae revealed extensive trans-generic evolution of the S-RNases and a clear distinction from S-like-RNases. Pollination tests were used to confirm the self-incompatibility status and cross-compatibility relationships of the S. okadae accessions. All the S. okadae accessions were found to be self-incompatible as expected with crosses amongst them exhibiting both cross-compatibility and semi-compatibility consistent with the S-genotypes determined from the S-RNase sequence data. The progeny analysis of four semi-compatible crosses examined by allele-specific PCR provided further confirmation that these are functional S-RNases