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https://www.readbyqxmd.com/read/28435519/gt198-psmc3ip-germline-variants-in-early-onset-breast-cancer-patients-from-hereditary-breast-and-ovarian-cancer-families
#1
Stephanie Schubert, Tim Ripperger, Melanie Rood, Anthony Petkidis, Winfried Hofmann, Hildegard Frye-Boukhriss, Marcel Tauscher, Bernd Auber, Ursula Hille-Betz, Thomas Illig, Brigitte Schlegelberger, Doris Steinemann
GT198, located 470 kb downstream of BRCA1, encodes for the nuclear PSMC3-interacting protein, which functions as co-activator of steroid hormone-mediated gene expression, and is involved in RAD51 and DMC1-mediated homologous recombination during DNA repair of double-strand breaks. Recently, germline variants in GT198 have been identified in hereditary breast and ovarian cancer (HBOC) patients, mainly in cases with early-onset. We screened a cohort of 166 BRCA1/2 mutation-negative HBOC patients, of which 56 developed early-onset breast cancer before the age of 36 years, for GT198 variants...
January 2017: Genes & Cancer
https://www.readbyqxmd.com/read/28432505/3d-double-echo-steady-state-sequence-assessment-of-hip-joint-cartilage-and-labrum-at-3-tesla-comparative-analysis-of-magnetic-resonance-imaging-and-intraoperative-data
#2
Christoph Schleich, Tobias Hesper, Harish S Hosalkar, Fanni Rettegi, Christoph Zilkens, Rüdiger Krauspe, Gerald Antoch, Bernd Bittersohl
OBJECTIVES: To assess the diagnostic accuracy of a high-resolution, three-dimensional (3D) double-echo steady-state (DESS) sequence with radial imaging at 3 Tesla (T) for evaluating cartilage and labral alterations in the hip. METHODS: Magnetic resonance imaging (MRI) data obtained at 3 T, including radially reformatted DESS images and intraoperative data of 45 patients (mean age 42 ± 13.7 years) who underwent hip arthroscopy, were compared. The acetabular cartilage and labrum of the upper hemisphere of the acetabulum and the central femoral head cartilage were evaluated...
April 21, 2017: European Radiology
https://www.readbyqxmd.com/read/28431278/intranasal-oxytocin-does-not-modulate-jumping-to-conclusions-in-schizophrenia-potential-interactions-with-caudate-volume-and-baseline-social-functioning
#3
Fernando Caravaggio, Philip Gerretsen, Wanna Mar, Jun Ku Chung, Eric Plitman, Shinichiro Nakajima, Julia Kim, Yusuke Iwata, Raihaan Patel, M Mallar Chakravarty, Gary Remington, Ariel Graff-Guerrero, Mahesh Menon
BACKGROUND: Patients with schizophrenia (SCZ) tend to sample less information when making a decision, jumping to conclusions (JTC) without sufficient evidence. This "JTC bias" may be a trait marker of the disease and may not improve with antipsychotic treatment. We conducted a double-blind, placebo-controlled trial to test whether intranasal oxytocin could reduce JTC in stable, medicated patients with SCZ and healthy controls (HCs). We also explored whether striatal volume, clinical symptoms, and baseline social functioning (SF) was related to JTC performance...
March 31, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28423024/interrelationships-of-vel1-and-env1-in-light-response-and-development-in-trichoderma-reesei
#4
Hoda Bazafkan, Christoph Dattenböck, Eva Stappler, Sabrina Beier, Monika Schmoll
Sexual development is regulated by a complex regulatory mechanism in fungi. For Trichoderma reesei, the light response pathway was shown to impact sexual development, particularly through the photoreceptor ENVOY. Moreover, T. reesei communicates chemically with a potential mating partner in its vicinity, a response which is mediated by the velvet family protein VEL1 and its impact on secondary metabolism. We therefore studied the regulatory interactions of ENV1 and VEL1 with a focus on sexual development. Although individual mutants in both genes are female sterile under standard crossing conditions (light-dark cycles), an altered light regime enabled sexual development, which we found to be due to conditional female sterility of Δenv1, but not Δvel1...
2017: PloS One
https://www.readbyqxmd.com/read/28406356/the-association-between-fundamental-athletic-movements-and-physical-fitness-in-elite-junior-australian-footballers
#5
Carl T Woods, Ian McKeown, Justin Keogh, Sam Robertson
This study investigated the associations between fundamental athletic movement and physical fitness in junior Australian football (AF). Forty-four under 18 players performed a fundamental athletic movement assessment consisting of an overhead squat, double lunge, single leg Romanian deadlift and a push up. Movements were scored on three assessment criterions using a three-point scale. Additionally, participants performed five physical fitness tests commonly used for talent identification in AF. A Spearman's nonparametric correlation matrix was built, with correlation coefficients being visualised using a circularly rendered correlogram...
April 13, 2017: Journal of Sports Sciences
https://www.readbyqxmd.com/read/28395106/primary-congenital-immunodeficiency-2015-sh-eahp-workshop-report-part-5
#6
Dita Gratzinger, Elaine S Jaffe, Amy Chadburn, John K C Chan, Daphne de Jong, John R Goodlad, Jonathan Said, Yasodha Natkunam
Objectives: The 2015 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review primary immunodeficiency and related lymphoproliferations. Methods: Primary immunodeficiencies were divided into immune dysregulation, DNA repair defects, low immunoglobulins, and combined immunodeficiencies. Results: Autoimmune lymphoproliferative syndrome (ALPS) is a prototypical immune dysregulation-type immunodeficiency, with defects in T-cell signaling or apoptosis, expansion of T-cell subsets, and predisposition to hemophagocytic lymphohistiocytosis...
February 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28387859/altered-expression-of-signalling-lymphocyte-activation-molecule-receptors-in-t-cells-from-lupus-nephritis-patients-a-potential-biomarker-of-disease-activity
#7
Victoria Stratigou, Anne F Doyle, Francesco Carlucci, Lauren Stephens, Valentina Foschi, Marco Castelli, Nicola McKenna, H Terence Cook, Liz Lightstone, Thomas D Cairns, Matthew C Pickering, Marina Botto
Objectives.: The aim was to investigate whether the signalling lymphocyte activation molecule (SLAM) signalling pathways contribute to LN and whether SLAM receptors could be valuable biomarkers of disease activity. Methods.: Peripheral blood mononuclear cells from 30National Research Ethics Service SLE patients with biopsy-proven LN were analysed by flow cytometry. Clinical measures of disease activity were assessed. The expression of the SLAM family receptors on T-cell subpopulations [CD4, CD8 and double negative (DN) T cells] was measured and compared between lupus patients with active renal disease and those in remission...
April 5, 2017: Rheumatology
https://www.readbyqxmd.com/read/28378808/distribution-location-and-transcriptional-profile-of-peyer-s-patch-conventional-dc-subsets-at-steady-state-and-under-tlr7-ligand-stimulation
#8
J Bonnardel, C Da Silva, C Wagner, R Bonifay, L Chasson, M Masse, E Pollet, M Dalod, J-P Gorvel, H Lelouard
The initiation of the mucosal immune response in Peyer's patch (PP) relies on the sampling, processing, and efficient presentation of foreign antigens by dendritic cells (DCs). Among PP DCs, CD11b(+) conventional DCs (cDCs) and lysozyme-expressing DCs (LysoDCs) have distinct progenitors and functions but share many cell surface markers. This has previously led to confusion between these two subsets. In addition, another PP DC subset, termed double-negative (DN), remains poorly characterized. Here we show that both DN and CD11b(+) cDCs belong to a unique SIRPα(+) cDC subset...
April 5, 2017: Mucosal Immunology
https://www.readbyqxmd.com/read/28377505/glutamate-52-%C3%AE-at-the-%C3%AE-%C3%AE-subunit-interface-of-e-coli-class-ia-ribonucleotide-reductase-is-essential-for-conformational-gating-of-radical-transfer
#9
Qinghui Lin, Mackenzie J Parker, Alexander T Taguchi, Kanchana Ravichandran, Albert Kim, Gyunghoon Kang, Jimin Shao, Catherine L Drennan, JoAnne Stubbe
Ribonucleotide reductases (RNRs) catalyze the conversion of nucleoside diphosphate substrates (S) to deoxynucleotides with allosteric effectors (e) controlling their relative ratios and amounts, crucial for fidelity of DNA replication and repair. E. coli class Ia RNR is composed of α and β subunits that form a transient, active α2β2 complex. The E. coli RNR is rate-limited by S/e-dependent conformational change(s) that trigger the radical initiation step through a pathway of 35 Å across the subunit (α/β) interface...
April 4, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28376432/expression-and-splicing-of-ikaros-family-members-in-murine-and-human-thymocytes
#10
Julie L Mitchell, Amara Seng, Thomas M Yankee
The Ikaros family of transcription factors includes five highly homologous members that can homodimerize or heterodimerize in any combination. Dimerization is essential for their ability to bind DNA and function as transcription factors. Previous studies showed that eliminating the function of the entire family blocks lymphocyte development while deletion of individual family members has relatively minor defects. These data indicate that multiple family members function during T cell development, so we examined the changes in expression of each family member as thymocytes progressed from the CD4(-)CD8(-) double negative (DN) to the CD4(+)CD8(+) double positive (DP) developmental stage...
April 1, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28371836/differential-effects-of-biological-dmards-on-peripheral-immune-cell-phenotypes-in-patients-with-rheumatoid-arthritis
#11
Shingo Nakayamada, Satoshi Kubo, Maiko Yoshikawa, Yusuke Miyazaki, Naoki Yunoue, Shigeru Iwata, Ippei Miyagawa, Shintaro Hirata, Kazuhisa Nakano, Kazuyoshi Saito, Yoshiya Tanaka
Objective.: The aim of this study was to assess the therapeutic effects of biological DMARDs (bDMARDs) on the diversity of immune cell phenotypes in peripheral blood of patients with RA. Methods.: Peripheral immune cell phenotypes were determined in 108 RA patients who were non-responsive to conventional DMARDs and 33 healthy control subjects by eight-colour flow cytometry. We also examined the correlation between the phenotypes and clinical findings and assessed the effects of 24-week treatment with bDMARDs...
March 27, 2017: Rheumatology
https://www.readbyqxmd.com/read/28371089/detection-of-invariant-natural-killer-t-cells-in-ejaculates-from-infertile-patients-with-chronic-inflammation-of-genital-tract
#12
Yong-Gang Duan, Shujian Chen, Gerhard Haidl, Jean-Pierre Allam
Chronic inflammation of genital tract is thought to play a major role in male fertility disorder. Natural killer (NK) T cells are a heterogeneous group of T cells that share properties of both T cells and NK cells which display immunoregulatory properties. However, little is known regarding the presence and function of NK T cells in ejaculates from patients with chronic inflammation of genital tract. Invariant NK T (iNK T) cells were detected by invariant (Vα24-JαQ) TCR chain in ejaculates from patients suffering from chronic inflammation of genital tract (CIGT) using flow cytometry and immunofluorescence of double staining (n=40)...
April 3, 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/28366376/negative-dysphotopsia-causes-and-rationale-for-prevention-and-treatment
#13
Jack T Holladay, Michael J Simpson
PURPOSE: To determine the cause of negative dysphotopsia using standard ray-tracing techniques and identify the primary and secondary causative factors. SETTING: Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, USA. DESIGN: Experimental study. METHODS: Zemax ray-tracing software was used to evaluate pseudophakic and phakic eye models to show the location of retinal field images from various visual field objects...
February 2017: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/28346430/il-17c-mediates-the-recruitment-of-tumor-associated-neutrophils-and-lung-tumor-growth
#14
C Jungnickel, L H Schmidt, L Bittigkoffer, L Wolf, A Wolf, F Ritzmann, A Kamyschnikow, C Herr, M D Menger, T Spieker, R Wiewrodt, R Bals, C Beisswenger
Chronic obstructive pulmonary disease (COPD) is associated with an increased risk for lung cancer and an aberrant microbiota of the lung. Microbial colonization contributes to chronic neutrophilic inflammation in COPD. Nontypeable Haemophilus influenzae (NTHi) is frequently found in lungs of stable COPD patients and is the major pathogen triggering exacerbations. The epithelial cytokine interleukin-17C (IL-17C) promotes the recruitment of neutrophils into inflamed tissues. The purpose of this study was to investigate the function of IL-17C in the pulmonary tumor microenvironment...
March 27, 2017: Oncogene
https://www.readbyqxmd.com/read/28344897/testing-of-microsatellite-multiplexes-for-individual-identification-of-cape-parrots-poicephalus-robustus-paternity-testing-and-monitoring-trade
#15
Willem G Coetzer, Colleen T Downs, Mike R Perrin, Sandi Willows-Munro
BACKGROUND: Illegal trade in rare wildlife species is a major threat to many parrot species around the world. Wildlife forensics plays an important role in the preservation of endangered or threatened wildlife species. Identification of illegally harvested or traded animals through DNA techniques is one of the many methods used during forensic investigations. Natural populations of the South African endemic Cape Parrot (Poicephalus robustus) are negatively affected by the removal of eggs and chicks for the pet trade...
2017: PeerJ
https://www.readbyqxmd.com/read/28344578/on-how-fas-apoptosis-independent-pathways-drive-t-cell-hyperproliferation-and-lymphadenopathy-in-lpr-mice
#16
Dimitrios Balomenos, Rahman Shokri, Lidia Daszkiewicz, Cristina Vázquez-Mateo, Carlos Martínez-A
Fas induces massive apoptosis in T cells after repeated in vitro T cell receptor (TCR) stimulation and is critical for lymphocyte homeostasis in Fas-deficient (lpr) mice. Although the in vitro Fas apoptotic mechanism has been defined, there is a large conceptual gap between this in vitro phenomenon and the pathway that leads to in vivo development of lymphadenopathy and autoimmunity. A striking abnormality in lpr mice is the excessive proliferation of CD4(+) and CD8(+) T cells, and more so of the double-negative TCR(+)CD4(-)CD8(-)B220(+) T cells...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28342946/negait-a-new-parser-for-medical-text-simplification-using-morphological-sentential-and-double-negation
#17
Partha Mukherjee, Gondy Leroy, David Kauchak, Srinidhi Rajanarayanan, Damian Y Romero Diaz, Nicole P Yuan, T Gail Pritchard, Sonia Colina
Many different text features influence text readability and content comprehension. Negation is commonly suggested as one such feature, but few general-purpose tools exist to discover negation and studies of the impact of negation on text readability are rare. In this paper, we introduce a new negation parser (NegAIT) for detecting morphological, sentential, and double negation. We evaluated the parser using a human annotated gold standard containing 500 Wikipedia sentences and achieved 95%, 89% and 67% precision with 100%, 80%, and 67% recall, respectively...
March 22, 2017: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/28340607/randomised-double-blind-placebo-controlled-trials-of-non-individualised-homeopathic-treatment-systematic-review-and-meta-analysis
#18
Robert T Mathie, Nitish Ramparsad, Lynn A Legg, Jürgen Clausen, Sian Moss, Jonathan R T Davidson, Claudia-Martina Messow, Alex McConnachie
BACKGROUND: A rigorous systematic review and meta-analysis focused on randomised controlled trials (RCTs) of non-individualised homeopathic treatment has not previously been reported. We tested the null hypothesis that the main outcome of treatment using a non-individualised (standardised) homeopathic medicine is indistinguishable from that of placebo. An additional aim was to quantify any condition-specific effects of non-individualised homeopathic treatment. METHODS: Literature search strategy, data extraction and statistical analysis all followed the methods described in a pre-published protocol...
March 24, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28337202/murine-cytomegalovirus-disrupts-splenic-dendritic-cell-subsets-via-type-i-interferon-dependent-and-independent-mechanisms
#19
William T Nash, Alyssa L Gillespie, Michael G Brown
Dendritic cells (DC) are well-known modulators of immunity. This heterogeneous population is composed of defined subsets that exhibit functional specialization and are critical in initiating responses to pathogens. As such, many infectious agents employ strategies to disrupt DC functioning in attempts to evade the immune system. In some instances, this manifests as an outright loss of these cells. Previous work has suggested that, in the absence of an efficient natural killer (NK) cell response, murine cytomegalovirus (MCMV) induces large amounts of interferon (IFN)-I...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28329608/atypical-lymphoproliferative-disorder-clinical-and-pathological-features
#20
Kelly Wilmas, Madeleine Duvic, Yasuhiro Oki
Definitive diagnosis of cutaneous lymphoproliferative disorders is one of the most challenging issues in dermatopathology owing to the broad spectrum of clinical and histopathological presentations. We report a case of a 73-year-old woman who presented with a single, asymptomatic plaque limited to her left collarbone. This was followed by the appearance of several plaques and patches in addition to a tumor. Her initial biopsy suggested a CD4/CD8 double negative mycosis fungoides (MF). However, the rapidly progressive course of her disease is worrisome for peripheral T-cell lymphomas-not otherwise specified (PTCL-NOS)...
September 15, 2016: Dermatology Online Journal
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