Search results for "Case-Control Studies"
showing 10 items of 1567 documents
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
2010
Summary Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein ( VCP ) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mutation in a pathologically proven case of ALS. VCP protein is essential for maturation of ubiquitin-containing autophagosomes, and mutant VCP toxicity is partially mediated through its effect on…
Orbital volume and shape in Treacher Collins syndrome
2018
Orbito-palpebral reconstruction is a challenge in Treacher Collins syndrome (TCS). This study investigates orbital phenotypes in TCS using cephalometry and orbital shape analysis. Eighteen TCS and 52 control patients were included in this study, using the Dr Warehouse database. Orbital cephalometry was based on 20 landmarks, 10 planes, 16 angles, and 22 distances. Orbits were segmented. Registration-based, age-specific mean models were generated using semi-automatic segmentation, and aligned and compared using color-coded distance maps - mean absolute distance (MAD), Hausdorff distance (HD), and Dice similarity coefficient (DSC). Symmetry was assessed by mirroring and DSC computing. Central…
Single-cell RNA sequencing of oocytes from ovarian endometriosis patients reveals a differential transcriptomic profile associated with lower quality
2018
Abstract STUDY QUESTION Do oocytes from women with ovarian endometriosis (OE) have a different transcriptomic profile than those from healthy women? SUMMARY ANSWER Oocytes from endometriosis patients, independently of whether they came from the affected ovary, exhibited a differential transcriptomic profile compared to oocytes from healthy egg donors. WHAT IS KNOWN ALREADY Studies of endometriosis have sought to determine whether OE affects oocyte quality. While many reports indicate that oocytes recovered from endometriotic ovaries may be affected by the disease, other studies have found no significant differences among oocyte/embryo quality and fertilization, implantation and pregnancy ra…
The Endobiota Study: Comparison of Vaginal, Cervical and Gut Microbiota Between Women with Stage 3/4 Endometriosis and Healthy Controls
2019
Dysbiosis in the genital tract or gut microbiome can be associated with endometriosis. We sampled vaginal, cervical and gut microbiota from 14 women with histology proven stage 3/4 endometriosis and 14 healthy controls. The V3 and V4 regions of the 16S rRNA gene were amplified following the 16S Metagenomic Sequencing Library Preparation. Despite overall similar vaginal, cervical and intestinal microbiota composition between stage 3/4 endometriosis group and controls, we observed differences at genus level. The complete absence of Atopobium in the vaginal and cervical microbiota of the stage 3/4 endometriosis group was noteworthy. In the cervical microbiota, Gardnerella, Streptococcus, Esche…
Epithelial contribution to the profibrotic stiff microenvironment and myofibroblast population in lung fibrosis
2017
The contribution of epithelial-to-mesenchymal transition (EMT) to the profibrotic stiff microenvironment and myofibroblast accumulation in pulmonary fibrosis remains unclear. We examined EMT-competent lung epithelial cells and lung fibroblasts from control (fibrosisfree) donors or patients with idiopathic pulmonary fibrosis (IPF), which is a very aggressive fibrotic disorder. Cells were cultured on profibrotic conditions including stiff substrata and TGF-β1, and analyzed in terms of morphology, stiffness, and expression of EMT/myofibroblast markers and fibrillar collagens. All fibroblasts acquired a robust myofibroblast phenotype on TGF-β1 stimulation. Yet IPF myofibroblasts exhibited highe…
Cervical pregnancy in assisted reproduction: an analysis of risk factors in 91,067 ongoing pregnancies
2019
Abstract Research question What is the frequency of cervical pregnancy in women undergoing assisted reproductive technologies (ART) and what are the risk factors? Design Case-control study of women undergoing assisted reproductive technology (ART) at 25 private assisted reproduction clinics run by the same group in Spain. Two control groups (tubal ectopic pregnancies and intrauterine pregnancies) were established. The main outcome measure was frequency of cervical pregnancy. Demographic, clinical factors and IVF parameters were assessed for their influence on cervical pregnancy risk. Results Thirty-two clinical pregnancies were achieved out of 91,067 ongoing pregnancies, yielding a rate of …
Body image avoidance affects interpersonal distance perception: A virtual environment experiment.
2019
OBJECTIVE Eating disorders have a considerable influence on social contacts. The avoidance towards the own body may result in the avoidance of others. Previous research has found a preference for larger interaction distances in individuals with eating disorders (ED) as compared to control participants (CG). We aimed to replicate these findings and to investigate whether the body weight of the interactant moderates the effect. METHOD We recruited a female sample with mixed ED subtypes (n = 21) and a female CG (n = 28). Participants were immersed in a virtual environment and engaged in a number of fictitious social interactions. They approached a virtual person until a comfortable distance fo…
Implicitly measured aggressiveness self-concepts in women with borderline personality disorder as assessed by an Implicit Association Test.
2020
Abstract Background Aggressiveness resulting from inappropriately intense anger plays a major role in borderline personality disorder (BPD) and research using self-report measures has consistently found elevated levels of aggression in this condition. However, while self-report assesses explicit dimensions of the self-concept, it cannot elucidate implicit processes that are at least equally important as they guide the perceptions of the self and influence behavioral responses. The present study aimed to extend the research on aggressiveness self-concepts in BPD utilizing an indirect latency-based measure. Methods Twenty-nine female inpatients with BPD and 21 healthy women were assessed with…
Phenotype and functional changes of Vγ9/Vδ2 T lymphocytes in Behçet's disease and the effect of infliximab on Vγ9/Vδ2 T cell expansion, activation an…
2010
Introduction: Infliximab is a chimeric monoclonal antibody against tumor necrosis factor alpha (TNF-α) that has been introduced recently for Behcet's disease (BD) patients who were resistant to standard treatment. The aim of this study was to analyse the functional changes of Vγ9/Vδ2 T lymphocytes in both active and inactive disease and the effect of infliximab on Vγ9/Vδ2 T cell expansion, activation and cytotoxicity. Methods: We investigated 1) cell expansion, 2) expression of TNFRII receptor, 3) perforin and gamma interferon (IFN) content, 4) release of granzyme A (GrA) and 5) phenotype changes, in vitro and in vivo, in Vγ9/Vδ2 T lymphocytes by means of fluorescence-activated cell sorter …
Sexual disorders and dyspnoea among women with obstructive sleep apnea
2020
Abstract Purpose We aimed to assess sexual function, sexual distress and the prevalence of female sexual dysfunction (FSD) among women with obstructive sleep apnea syndrome (OSA), and to assess if the presence of OSA and dyspnea influences the prevalence of FSD, body image during sexual activity and sexual function. Methods We assessed 23 women with new OSA diagnosis and 23 healthy age and body mass index (BMI) matched controls. Sexual functions were evaluated by Changes in Sexual Functioning Questionnaire (CSFQ), sexual dysfunction was diagnosed based on DSM-5 criteria during the semi-structured sexual interview, whereas body image was evaluated by Body Exposure during Sexual Activities Qu…