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https://www.readbyqxmd.com/read/28549169/regulatory-dynamics-of-11p13-suggest-a-role-for-ehf-in-modifying-cf-lung-disease-severity
#1
Lindsay R Stolzenburg, Rui Yang, Jenny L Kerschner, Sara Fossum, Matthew Xu, Andrew Hoffmann, Kay-Marie Lamar, Sujana Ghosh, Sarah Wachtel, Shih-Hsing Leir, Ann Harris
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF), but are not good predictors of lung phenotype. Genome-wide association studies (GWAS) previously identified additional genomic sites associated with CF lung disease severity. One of these, at chromosome 11p13, is an intergenic region between Ets homologous factor (EHF) and Apaf-1 interacting protein (APIP). Our goal was to determine the functional significance of this region, which being intergenic is probably regulatory...
May 26, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28549105/outbreak-of-pneumocystis-jirovecii-infection-among-heart-transplant-recipients-molecular-investigation-and-management-of-an-inter-human-transmission
#2
William Vindrios, Nicolas Argy, Solène Le Gal, François-Xavier Lescure, Laurent Massias, Minh Patrick Le, Michel Wolff, Yazdan Yazdanpanah, Gilles Nevez, Sandrine Houze, Richard Dorent, Jean-Christophe Lucet
Background: An outbreak of Pneumocystis jirovecii pneumonia (PCP) occurred among heart transplant recipients (HTR) at the outpatient clinic of a university hospital, from March to September 2015. Clinical, therapeutic, biological and molecular data were analyzed to determine its origin and control the outbreak. Methods: Clinical and biological data regarding all HTR followed in the outpatient clinic were collected. PCP diagnosis was based on microscopy and real-time PCR...
May 26, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28549093/autoantibodies-in-melanoma-associated-retinopathy-recognize-an-epitope-conserved-between-trpm1-and-trpm3
#3
Robert M Duvoisin, Tammie L Haley, Gaoying Ren, Iwona Strycharska-Orczyk, James P Bonaparte, Catherine W Morgans
Purpose: Melanoma-associated retinopathy (MAR) is a paraneoplastic syndrome associated with malignant melanoma and the presence of anti-retinal autoantibodies, including autoantibodies against transient receptor potential melanopsin 1 (TRPM1), a cation channel expressed by both melanocytes and retinal bipolar cells. The goal of this study was to further map the antigenic epitope. Methods: Patient sera were tested by immunofluorescence and Western blotting on HEK293 cells transfected with enhanced green fluorescent protein (EGFP)-TRPM1 fusion constructs and mouse retina sections...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28549087/thalamic-alterations-remote-to-infarct-appear-as-focal-iron-accumulation-and-impact-clinical-outcome
#4
Grégory Kuchcinski, Fanny Munsch, Renaud Lopes, Antoine Bigourdan, Jason Su, Sharmila Sagnier, Pauline Renou, Jean-Pierre Pruvo, Brian K Rutt, Vincent Dousset, Igor Sibon, Thomas Tourdias
Thalamic alterations have been observed in infarcts initially sparing the thalamus but interrupting thalamo-cortical or cortico-thalamic projections. We aimed at extending this knowledge by demonstrating with in vivo imaging sensitive to iron accumulation, one marker of neurodegeneration, that (i) secondary thalamic alterations are focally located in specific thalamic nuclei depending on the initial infarct location; and (ii) such secondary alterations can contribute independently to the long-term outcome. To tackle this issue, 172 patients with an infarct initially sparing the thalamus were prospectively evaluated clinically and with magnetic resonance imaging to quantify iron through R2* map at 24-72 h and at 1-year follow-up...
May 25, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28547345/where-are-adults-active-an-examination-of-physical-activity-locations-using-gps-in-five-us-cities
#5
Katelyn M Holliday, Annie Green Howard, Michael Emch, Daniel A Rodríguez, Wayne D Rosamond, Kelly R Evenson
Increasing physical activity (PA) at the population level requires appropriately targeting intervention development. Identifying the locations in which participants with various sociodemographic, body weight, and geographic characteristics tend to engage in varying intensities of PA as well as locations these populations underutilize for PA may facilitate this process. A visual location-coding protocol was developed and implemented in Google Fusion Tables and Maps using data from participants (N = 223, age 18-85) in five states...
May 25, 2017: Journal of Urban Health: Bulletin of the New York Academy of Medicine
https://www.readbyqxmd.com/read/28546702/efficacy-of-sentinel-lymph-node-biopsy-in-detecting-axillary-metastasis-in-breast-cancer-using-methylene-blue
#6
Vipul V Nandu, Milind S Chaudhari
Breast cancer is the leading malignancy and the second leading cause of cancer-related deaths. Axillary lymph node status is a very important prognostic factor in breast cancer patients; nodal evaluation is therefore a critical part of breast cancer management. Axillary lymph node dissection results in significant morbidity. Sentinel lymph node biopsy (SLNB) is being used in many centers to stage the axilla in planning axillary dissection management of patients and hence plays an important part in reducing morbidity among patients with carcinoma breast...
June 2017: Indian Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28546700/advanced-primary-epithelial-ovarian-and-peritoneal-carcinoma-does-diagnostic-accuracy-of-preoperative-ct-scan-for-detection-of-peritoneal-metastatic-sites-reflect-into-prediction-of-suboptimal-debulking-a-prospective-study
#7
Kiran Bagul, D K Vijaykumar, Anupama Rajanbabu, Mitchelle Aline Antony, Venkatesan Ranganathan
Ovarian cancer is the seventh most common cancer in females worldwide. Optimal debulking is the standard treatment but possible only in 30-85% of advanced stages. Knowing exactly the disease extent preoperatively may predict suboptimal debulking. We analyzed diagnostic accuracy of preoperative CT scan in disease mapping and prediction of suboptimal debulking in a prospective observational study from March 2013 to May 2015 in a tertiary hospital. Adults below the age of 75 years with ECOG PS-0, 1, 2, clinically/radiologically newly diagnosed stage IIIc epithelial ovarian (EOC), and primary peritoneal carcinoma (PPC) were included...
June 2017: Indian Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28545577/proanthocyanidin-accumulation-and-transcriptional-responses-in-the-seed-coat-of-cranberry-beans-phaseolus-vulgaris-l-with-different-susceptibility-to-postharvest-darkening
#8
José A Freixas Coutin, Seth Munholland, Anjali Silva, Sanjeena Subedi, Lewis Lukens, William L Crosby, K Peter Pauls, Gale G Bozzo
BACKGROUND: Edible dry beans (Phaseolus vulgaris L.) that darken during postharvest storage are graded lower and are less marketable than their non-darkened counterparts. Seed coat darkening in susceptible genotypes is dependent upon the availability of proanthocyanidins, and their subsequent oxidation to reactive quinones. Mature cranberry beans lacking this postharvest darkening trait tend to be proanthocyanidin-deficient, although the underlying molecular and biochemical determinants for this metabolic phenomenon are unknown...
May 25, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28545405/genetic-complexity-of-miscanthus-cell-wall-composition-and-biomass-quality-for-biofuels
#9
Tim van der Weijde, Claire L Alvim Kamei, Edouard I Severing, Andres F Torres, Leonardo D Gomez, Oene Dolstra, Chris A Maliepaard, Simon J McQueen-Mason, Richard G F Visser, Luisa M Trindade
BACKGROUND: Miscanthus sinensis is a high yielding perennial grass species with great potential as a bioenergy feedstock. One of the challenges that currently impedes commercial cellulosic biofuel production is the technical difficulty to efficiently convert lignocellulosic biomass into biofuel. The development of feedstocks with better biomass quality will improve conversion efficiency and the sustainability of the value-chain. Progress in the genetic improvement of biomass quality may be substantially expedited by the development of genetic markers associated to quality traits, which can be used in a marker-assisted selection program...
May 25, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28545128/common-variants-upstream-of-mlf1-at-3q25-and-within-cpz-at-4p16-associated-with-neuroblastoma
#10
Lee D McDaniel, Karina L Conkrite, Xiao Chang, Mario Capasso, Zalman Vaksman, Derek A Oldridge, Anna Zachariou, Millicent Horn, Maura Diamond, Cuiping Huo, Achille Iolascon, Hakon Hakonarson, Nazneen Rahman, Marcella Devoto, Sharon J Diskin
Neuroblastoma is a cancer of the developing sympathetic nervous system that most commonly presents in young children and accounts for approximately 12% of pediatric oncology deaths. Here, we report on a genome-wide association study (GWAS) in a discovery cohort or 2,101 cases and 4,202 controls of European ancestry. We identify two new association signals at 3q25 and 4p16 that replicated robustly in multiple independent cohorts comprising 1,163 cases and 4,396 controls (3q25: rs6441201 combined P = 1.2x10-11, Odds Ratio 1...
May 18, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28544614/proteomic-profiling-of-the-hypothalamus-in-two-mouse-models-of-narcolepsy
#11
Sausan Azzam, Daniela Schlatzer, David Nethery, Dania Saleh, Xiaolin Li, Afaf Akladious, Mark R Chance, Kingman P Strohl
Narcolepsy is a disabling neurological disorder of sleepiness linked to the loss of neurons producing orexin neuropeptides in the hypothalamus. Two well characterized phenotypic mouse models of narcolepsy, loss-of-function (orexin-knockout) and progressive loss of orexin (orexin/ataxin-3) exist. The open question is whether the proteomics signatures of the hypothalamus would be different between the two models. To address this gap, we utilized a label-free proteomics approach and conducted a hypothalamic proteome analysis by comparing each disease model to that of wild type...
May 22, 2017: Proteomics
https://www.readbyqxmd.com/read/28544256/intrinsic-functional-connectivity-alterations-in-progressive-supranuclear-palsy-differential-effects-in-frontal-cortex-motor-and-midbrain-networks
#12
Johannes Rosskopf, Martin Gorges, Hans-Peter Müller, Dorothée Lulé, Ingo Uttner, Albert C Ludolph, Elmar Pinkhardt, Freimut D Juengling, Jan Kassubek
BACKGROUND: The topography of functional network changes in progressive supranuclear palsy can be mapped by intrinsic functional connectivity MRI. The objective of this study was to study functional connectivity and its clinical and behavioral correlates in dedicated networks comprising the cognition-related default mode and the motor and midbrain functional networks in patients with PSP. METHODS: Whole-brain-based "resting-state" functional MRI and high-resolution T1-weighted magnetic resonance imaging data together with neuropsychological and video-oculographic data from 34 PSP patients (22 with Richardson subtype and 12 with parkinsonian subtype) and 35 matched healthy controls were subjected to network-based functional connectivity and voxel-based morphometry analysis...
May 22, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28543915/cross-sectional-correlation-between-hepatic-r2-and-proton-density-fat-fraction-pdff-in-children-with-hepatic-steatosis
#13
Adrija Mamidipalli, Gavin Hamilton, Paul Manning, Cheng William Hong, Charlie C Park, Tanya Wolfson, Jonathan Hooker, Elhamy Heba, Alexandra Schlein, Anthony Gamst, Janis Durelle, Melissa Paiz, Michael S Middleton, Jeffrey B Schwimmer, Claude B Sirlin
PURPOSE: To determine the relationship between hepatic proton density fat fraction (PDFF) and R2* in vivo. MATERIALS AND METHODS: In this Health Insurance Portability and Accountability Act (HIPAA)-compliant, Institutional Review Board (IRB)-approved, cross-sectional study, we conducted a secondary analysis of 3T magnetic resonance imaging (MRI) exams performed as part of prospective research studies in children in whom conditions associated with iron overload were excluded clinically...
May 25, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/28543856/experimental-charge-density-from-electron-microscopic-maps
#14
Jimin Wang
The charge density (CD) distribution of an atom is the difference per unit volume between the positive charge of its nucleus and the distribution of the negative charges carried by the electrons that are associated with it. The CDs of the atoms in macromolecules are responsible for their electrostatic potential (ESP) distributions, which can now be visualized using cryo-electron microscopy at high resolution. CD maps can be recovered from experimental ESP density maps using the negative Laplacian operation...
May 20, 2017: Protein Science: a Publication of the Protein Society
https://www.readbyqxmd.com/read/28543741/detection-of-progression-of-glaucomatous-retinal-nerve-fibre-layer-defects-using-optical-coherence-tomography-guided-progression-analysis
#15
Young Hoon Hwang, Min Kyung Kim, Jae Min Wi, Jae Keun Chung, Kwan Bok Lee
PURPOSE: The aim was to investigate the agreement for detection of progression of glaucomatous retinal nerve fibre layer defects (RNFLD) between optical coherence tomography-guided progression analysis (OCT GPA) and conventional red-free fundus photography. METHODS: Four hundred and fifteen glaucomatous eyes that underwent at least four serial red-free photographic and OCT examinations were included in the study. Based on the inspection of the red-free fundus photographs and GPA maps, RNFLD progression was defined as the development of a new defect, widening or deepening of a pre-existing RNFLD in red-free fundus photography (photographic progression) or 'Likely Loss' on a GPA map (GPA progression)...
May 24, 2017: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/28543607/successful-ablation-of-a-right-atrium-axillary-ventricular-accessory-pathway-associated-with-wolff-parkinson-white-syndrome
#16
Yuan Yuan, Deyong Long, Jianzeng Dong, Ling Tao, Changsheng Ma
We report a case of a patient with right axillary ventricular. Similar congenital anomaly of the right atrium was reported as "right appendage diverticulum or right atrial diverticulum". However, this independent chamber has its own annulus, synchronizes with the right ventricular, and generates large ventricular potential. Under the guidance of CARTO mapping system, a right atrioventricular accessory pathway associated with Type B Wolff-Parkinson-White syndrome was ablated successfully. This pathway was close to the annulus of the axillary ventricular...
May 24, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28543279/role-of-ampa-receptors-in-homocysteine-nmdar-induced-crosstalk-between-erk-and-p38-map-kinase
#17
Ranjana Poddar, Alexandria Chen, Lucas Winter, Sathyanarayanan Rajagopal, Surojit Paul
Homocysteine, a metabolite of the methionine cycle has been reported to play a role in neurotoxicity through activation of NMDAR-mediated signaling pathway. The proposed mechanisms associated with homocysteine-NMDAR induced neurotoxicity involve a unique signaling pathway that triggers a crosstalk between ERK and p38 MAPKs, where activation of p38 MAPK is downstream of and dependent on ERK MAPK. However, the molecular basis of the ERK MAPK mediated p38 MAPK activation is not understood. The current study investigates whether AMPARs play a role in facilitating the ERK MAPK mediated p38 MAPK activation...
May 24, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28543071/differentiating-enhancing-multiple-sclerosis-lesions-glioblastoma-and-lymphoma-with-dynamic-texture-parameters-analysis-dtpa-a-feasibility-study
#18
Rajeev K Verma, Roland Wiest, C Locher, Mirjam R Heldner, Phillip Schucht, Andreas Raabe, Jan Gralla, Christian Philipp Kamm, Johannes Slotboom, Frauke Kellner-Weldon
PURPOSE: MR-imaging hallmarks of glioblastoma (GB), cerebral lymphoma (CL), and demyelinating lesions are gadolinium (Gd) uptake due to blood brain barrier disruption. Thus, initial diagnosis may be difficult based on conventional Gd enhanced MRI alone. Here, the added value of a dynamic texture parameter analysis (DTPA) in the differentiation between these three entities is examined. DTPA is an in-house software tool that incorporates the analysis of quantitative texture parameters extracted from dynamic susceptibility contrast enhanced (DSCE) images...
May 19, 2017: Medical Physics
https://www.readbyqxmd.com/read/28543052/norepinephrine-reduces-arterial-compliance-less-than-phenylephrine-when-treating-general-anesthesia-induced-arterial-hypotension
#19
F Vallée, O Passouant, A Le Gall, J Joachim, J Mateo, A Mebazaa, E Gayat
INTRODUCTION: During general anesthesia, arterial hypotension is frequent and may be an important contributor to perioperative morbidity. We assessed the effect of a 5 μg bolus of Norepinephrine (NA) when compared with 50 μg bolus of Phenylephrine (PE) administered to treat hypotension during maintenance anesthesia, on MAP, derived cardiac output and arterial stiffness parameters. METHODS: Patients scheduled for a neurosurgical procedure under general anesthesia were prospectively included...
May 22, 2017: Acta Anaesthesiologica Scandinavica
https://www.readbyqxmd.com/read/28542873/a-map-of-the-phosphoproteomic-alterations-that-occur-after-a-bout-of-maximal-intensity-contractions
#20
Gregory K Potts, Rachel M McNally, Rocky Blanco, Jae-Sung You, Alexander S Hebert, Michael S Westphall, Joshua J Coon, Troy A Hornberger
The maintenance of skeletal muscle mass is essential for health and quality of life. It is well recognized that maximal-intensity contractions, such as those which occur during resistance exercise, promote an increase in muscle mass. Yet, the molecules that sense the mechanical information and convert it into the signalling events (e.g. phosphorylation) that drive the increase in muscle mass remain undefined. Here we describe a phosphoproteomics workflow to examine the effects of electrically evoked maximal-intensity contractions (MIC) on protein phosphorylation in mouse skeletal muscle...
May 25, 2017: Journal of Physiology
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