MOESM3 of Parental attachment and depressive symptoms in pregnancies complicated by twin-twin transfusion syndrome: a cohort study

Additional file 3. Additional results

MOESM1 of Parental attachment and depressive symptoms in pregnancies complicated by twin-twin transfusion syndrome: a cohort study

Additional file 1. Questionnaires for parental attachment and depressive symptoms

MOESM2 of Parental attachment and depressive symptoms in pregnancies complicated by twin-twin transfusion syndrome: a cohort study

Additional file 2. Additional methods [29, 41]

Additional file 1: of First-trimester ultrasound measurements and maternal serum biomarkers as prognostic factors in monochorionic twins: a cohort study

Definition and justification of outcomes. (DOCX 19 kb

Additional file 2: of First-trimester ultrasound measurements and maternal serum biomarkers as prognostic factors in monochorionic twins: a cohort study

Additional analyses. (DOCX 13 kb

Patients' preference for administration of endocrine treatments by injection or tablets: results from a study of women with breast cancer

BACKGROUND: Endocrine therapies for advanced breast cancer include tablets and intramuscular injections. When treatments have similar efficacy and tolerability profiles, addressing preferences about routes of administration is important. PATIENTS AND METHODS: Two hundred and eight women>2 years post-breast cancer diagnosis were interviewed about their preferences for daily tablets or monthly intramuscular injections. Health-care professionals treating the women estimated patients' preferences. RESULTS: Sixty-three per cent of patients preferred tablets, 24.5% preferred the injection and 12.5% had no preference. The most cited reasons for tablet preference were convenience and dislike of needles; for injection preference, adherence and convenience. Variables associated with preferences were body mass index, educational level, attitudes towards injections and efficacy perceptions. Estimates about patients' preferences by health-care professionals varied widely. When asked to imagine scenarios where injections produced fewer hot flushes, or where two injections monthly improved efficacy, injection preference increased to 60.6% and 74.5%, respectively. Disturbingly, approximately 50% of patients admitted they sometimes forgot or chose not to take their current oral medication. CONCLUSIONS: The majority of breast cancer patients preferred hormone therapy via daily tablets rather than monthly injections. Information about side-effects or improved efficacy altered these preferences. Adherence to treatment cannot be assumed; patients' preferences about drug administration may influence this

Additional file 1 of Evaluation of post-exposure prophylaxis practices to improve the cost-effectiveness of rabies control in human cases potentially exposed to rabies in southern Bhutan

Additional file 1. Study Questionnaire

A 3-year prospective study of the effects of adjuvant treatments on cognition in women with early stage breast cancer

The neuropsychological performance of 85 women with early stage breast cancer scheduled for chemotherapy, 43 women scheduled for endocrine therapy and/or radiotherapy and 49 healthy control subjects was assessed at baseline (T1), postchemotherapy (or 6 months) (T2) and at 18 months (T3). Repeated measures analysis found no significant interactions or main effect of group after controlling for age and intelligence. Using a calculation to examine performance at an individual level, reliable decline on multiple tasks was seen in 20% of chemotherapy patients, 26% of nonchemotherapy patients and 18% of controls at T2 (18%, 14 and 11%, respectively, at T3). Patients who had experienced a treatment-induced menopause were more likely to show reliable decline on multiple measures at T2 (OR=2.6, 95% confidence interval (CI) 0.823-8.266 P=0.086). Psychological distress, quality of life measures and self-reported cognitive failures did not impact on objective tests of cognitive function, but were significantly associated with each other. The results show that a few women experienced objective measurable change in their concentration and memory following standard adjuvant therapy, but the majority were either unaffected or even improve over time

HAPRAP: a haplotype-based iterative method for statistical fine mapping using GWAS summary statistics.

MOTIVATION: Fine mapping is a widely used approach for identifying the causal variant(s) at disease-associated loci. Standard methods (e.g. multiple regression) require individual level genotypes. Recent fine mapping methods using summary-level data require the pairwise correlation coefficients (r(2)) of the variants. However, haplotypes rather than pairwise r(2), are the true biological representation of linkage disequilibrium (LD) among multiple loci. In this paper, we present an empirical iterative method, HAPlotype Regional Association analysis Program (HAPRAP), that enables fine mapping using summary statistics and haplotype information from an individual-level reference panel. RESULTS: Simulations with individual-level genotypes show that the results of HAPRAP and multiple regression are highly consistent. In simulation with summary-level data, we demonstrate that HAPRAP is less sensitive to poor LD estimates. In a parametric simulation using Genetic Investigation of ANthropometric Traits (GIANT) height data, HAPRAP performs well with a small training sample size (N<2000) while other methods become suboptimal. Moreover, HAPRAP's performance is not affected substantially by SNPs with low minor allele frequencies. We applied the method to existing quantitative trait and binary outcome meta-analyses (human height, QTc interval and gallbladder disease); all previous reported association signals were replicated and two additional variants were independently associated with human height. Due to the growing availability of summary level data, the value of HAPRAP is likely to increase markedly for future analyses (e.g. functional prediction and identification of instruments for Mendelian randomization). AVAILABILITY: The HAPRAP package and documentation are available online: http://apps.biocompute.org.uk/haprap

Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12

Background Several regions of the genome have shown to be associated with COPD in genome-wide association studies of common variants. Objective To determine rare and potentially functional single nucleotide polymorphisms (SNPs) associated with the risk of COPD and severity of airflow limitation. Methods 3226 current or former smokers of European ancestry with lung function measures indicative of Global Initiative for Chronic Obstructive Lung Disease (GOLD) 2 COPD or worse were genotyped using an exome array. An analysis of risk of COPD was carried out using ever smoking controls (n=4784). Associations with %predicted FEV1 were tested in cases. We followed-up signals of interest (p<10−5) in independent samples from a subset of the UK Biobank population and also undertook a more powerful discovery study by meta-analysing the exome array data and UK Biobank data for variants represented on both arrays. Results Among the associated variants were two in regions previously unreported for COPD; a low frequency non-synonymous SNP in MOCS3 (rs7269297, pdiscovery=3.08×10−6, preplication=0.019) and a rare SNP in IFIT3, which emerged in the meta-analysis (rs140549288, pmeta=8.56×10−6). In the meta-analysis of % predicted FEV1 in cases, the strongest association was shown for a splice variant in a previously unreported region, SERPINA12 (rs140198372, pmeta=5.72×10−6). We also confirmed previously reported associations with COPD risk at MMP12, HHIP, GPR126 and CHRNA5. No associations in novel regions reached a stringent exome-wide significance threshold (p<3.7×10−7). Conclusions This study identified several associations with the risk of COPD and severity of airflow limitation, including novel regions MOCS3, IFIT3 and SERPINA12, which warrant further study