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Maxime Lamontagne, Jean-Christophe Bérubé, Ma'en Obeidat, Michael H Cho, Brian D Hobbs, Phuwanat Sakornsakolpat, Kim de Jong, H Marike Boezen, David Nickle, Ke Hao, Wim Timens, Maarten van den Berge, Philippe Joubert, Michel Laviolette, Don D Sin, Peter D Paré, Yohan Bossé
Causal genes of chronic obstructive pulmonary disease (COPD) remain elusive. The current study aims at integrating genome-wide association studies (GWAS) and lung expression quantitative loci (eQTL) data to map COPD candidate causal genes and gain biological insights into the recently discovered COPD susceptibility loci. Two complementary genomic datasets on COPD were studied. First, the lung eQTL dataset which included whole-genome gene expression and genotyping data from 1,038 individuals. Second, the largest COPD GWAS to date from the International COPD Genetics Consortium (ICGC) with 13,710 cases and 38,062 controls...
March 14, 2018: Human Molecular Genetics
Ceren D Durmaz, Gareth Evans, Miriam J Smith, Pelin Ertop, Bengü N Akay, Timur Tuncalı
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst...
March 16, 2018: Cytogenetic and Genome Research
Julia P Slopsema, John M Boss, Lane A Heyboer, Carson M Tobias, Brooke P Draggoo, Kathleen E Finn, Payton J Hoff, Katharine H Polasek
Background: Electrical stimulation is increasingly relevant in a variety of medical treatments. In this study, surface electrical stimulation was evaluated as a method to non-invasively target a neural function, specifically natural sensation in the distal limbs. Method: Electrodes were placed over the median and ulnar nerves at the elbow and the common peroneal and lateral sural cutaneous nerves at the knee. Strength-duration curves for sensation were compared between nerves...
2018: Open Biomedical Engineering Journal
Hong Duan, Luis F de Navas, Fuqu Hu, Kailiang Sun, Yannis E Mavromatakis, Kayla Viets, Cyrus Zhou, Joshua Kavaler, Robert J Johnston, Andrew Tomlinson, Eric C Lai
Photoreceptors in the crystalline Drosophila eye are recruited by receptor tyrosine kinase (RTK)/Ras signaling, mediated by the Epidermal Growth Factor receptor (EGFR) and Sevenless receptor. Analyses of an allelic deletion series of the mir-279/996 locus, along with a panel of modified genomic rescue transgenes, show that normal Drosophila eye patterning depends on both miRNAs. Transcriptional reporter and activity sensor transgenes reveal expression and function of miR-279/996 in non-neural cells of the developing eye...
March 14, 2018: Development
Ai Peng Tan
OBJECTIVE: Majority of multi-suture craniosynostosis are related to single-gene disorders or chromosomal abnormalities. Children with craniosynostosis usually present at an early age due to the presence of an abnormal head shape, with the exception of a unique entity termed primary normocephalic pancraniosynostosis. The objective of this article is to describe an unusual case of primary normocephalic pancraniosynostosis, detected incidentally following an accidental head injury. A comprehensive review of the literature will also be included...
March 13, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Christien P Laber, Jonathan E Hunter, Filipa Carvalho, James R Collins, Elias J Hunter, Brittany M Schieler, Emmanuel Boss, Kuldeep More, Miguel Frada, Kimberlee Thamatrakoln, Christopher M Brown, Liti Haramaty, Justin Ossolinski, Helen Fredricks, Jozef I Nissimov, Rebecca Vandzura, Uri Sheyn, Yoav Lehahn, Robert J Chant, Ana M Martins, Marco J L Coolen, Assaf Vardi, Giacomo R DiTullio, Benjamin A S Van Mooy, Kay D Bidle
Marine phytoplankton account for approximately half of global primary productivity1 , making their fate an important driver of the marine carbon cycle. Viruses are thought to recycle more than one-quarter of oceanic photosynthetically fixed organic carbon2 , which can stimulate nutrient regeneration, primary production and upper ocean respiration2 via lytic infection and the 'virus shunt'. Ultimately, this limits the trophic transfer of carbon and energy to both higher food webs and the deep ocean2 . Using imagery taken by the Moderate Resolution Imaging Spectroradiometer (MODIS) onboard the Aqua satellite, along with a suite of diagnostic lipid- and gene-based molecular biomarkers, in situ optical sensors and sediment traps, we show that Coccolithovirus infections of mesoscale (~100 km) Emiliania huxleyi blooms in the North Atlantic are coupled with particle aggregation, high zooplankton grazing and greater downward vertical fluxes of both particulate organic and particulate inorganic carbon from the upper mixed layer...
March 12, 2018: Nature Microbiology
Jose María Narro-Donate, Paddy Méndez-Román, Antonio Huete-Allut, Jose Alberto Escribano-Mesa, Mario Gomar-Alba, Ascensión Contreras-Jiménez, Francisco Pedrero-García, Jose Masegosa-González
BACKGROUND: The polymalformative syndromes and craniofacial anomalies association is a well-known phenomenon in patients with Crouzon's, Pfeiffer, Apert or Muenke disease. Recently, other less frequent pathologies, such as Alagille syndrome, are showing an association with alterations in the development of cranial sutures resulting in serious cosmetic defects and neurological disorders. CASE DESCRIPTION: The authors report an exceptional case of a 30-month-old girl, nephroblastoma survivor, diagnosed with Alagille syndrome who is referred to our department with progressive anterior plagiocephaly and premature left coronal suture closure associated with a large compensating right bossing...
March 9, 2018: World Neurosurgery
Stéphanie Bossé, Bianca D'Antono, Tobias Stalder
OBJECTIVE: Childhood trauma has been associated with greater psychological and physical morbidity, including a greater risk of developing cardiovascular disease (CVD). This may partially reflect trauma-induced disturbances in how stress is later perceived and regulated. This study evaluated the associations of childhood trauma with perceived stress and hair cortisol concentrations (HCC) in a large sample of adults with coronary artery disease (CAD) and in non-CVD patients suffering from other non-fatal illnesses...
March 8, 2018: Psychosomatic Medicine
Netanja S Ter Maaten, Daniel M Mazzaferro, Ari M Wes, Sanjay Naran, Scott P Bartlett, Jesse A Taylor
BACKGROUND: Posterior vault distraction osteogenesis (PVDO) is believed to improve frontal contour in infants with syndromic craniosynostosis and turribrachycephaly. This study provides an objective craniometric analysis to determine how PVDO affects anterior cranial morphology. METHODS: A retrospective chart review of patients who underwent PVDO was performed. Inclusion criteria included pre- and postoperative computed tomography (CT) scans within 3 months before surgery and another 1 to 6 months after device removal...
March 8, 2018: Journal of Craniofacial Surgery
Jéssica Araújo Figueira, Fábio Roberto de Souza Batista, Karina Rosso, Vanessa Cristina Veltrini, Angelo José Pavan
Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant inherited disorder with high penetrance and variable expressivity. The classic triad originally described by Gorlin and Goltz in 1960 is composed of multiple nevoid basal cell carcinomas (NBCCs), odontogenic keratocysts (OKCs) in the jaws and bifid ribs. in 1977, this triad was modified by Rayner et al, and to GGS diagnosis, the OKCs had to appear in combination with calcification of the cerebellar falx or palmar and plantar pits...
March 8, 2018: Journal of Craniofacial Surgery
Eric B Jelin, Elizabeth M O'Hare, Tim Jancelewicz, Isam Nasr, Emily Boss, Daniel S Rhee
PURPOSE: We sought to determine optimal timing for CPAM resection within the first year of life. METHODS: We queried the National Surgical Quality Improvement Program pediatric database from 2012 to 2015 for elective CPAM resections on patients less than 1year of age. Patients were divided by age in months: 1-3 (n=57), 4-6 (n=135), and 6-12 (n=214). Patient operative variables and 30-day postoperative outcomes were compared. RESULTS: A total of 406 patients were included with no differences in demographics or comorbidities...
February 10, 2018: Journal of Pediatric Surgery
Sébastien Thériault, Nathalie Gaudreault, Maxime Lamontagne, Mickael Rosa, Marie-Chloé Boulanger, David Messika-Zeitoun, Marie-Annick Clavel, Romain Capoulade, François Dagenais, Philippe Pibarot, Patrick Mathieu, Yohan Bossé
Calcific aortic valve stenosis (CAVS) is a common and life-threatening heart disease and the current treatment options cannot stop or delay its progression. A GWAS on 1009 cases and 1017 ethnically matched controls was combined with a large-scale eQTL mapping study of human aortic valve tissues (n = 233) to identify susceptibility genes for CAVS. Replication was performed in the UK Biobank, including 1391 cases and 352,195 controls. A transcriptome-wide association study (TWAS) reveals PALMD (palmdelphin) as significantly associated with CAVS...
March 7, 2018: Nature Communications
F A Marcano-Fernández, Mariano Balaguer-Castro, F Fillat-Gomà, Ona Ràfols-Perramon, C Torrens, P Torner
BACKGROUND: There are many different techniques for reducing acute anterior dislocations of the shoulder, and their use depends on surgeon preference. The objective of this study was to compare the pain experienced by a patient performing a self-reduction technique with the pain felt during a reduction performed by a trained physician. METHODS: The study was carried out at the emergency department of a tertiary referral center. Patients between 18 and 60 years of age with an acute anterior shoulder dislocation were randomly allocated into 2 groups...
March 7, 2018: Journal of Bone and Joint Surgery. American Volume
Frank E Muller-Karger, Erin Hestir, Christiana Ade, Kevin Turpie, Dar A Roberts, David Siegel, Robert J Miller, David Humm, Noam Izenberg, Mary Keller, Frank Morgan, Robert Frouin, Arnold G Dekker, Royal Gardner, James Goodman, Blake Schaeffer, Bryan A Franz, Nima Pahlevan, Antonio G Mannino, Javier A Concha, Steven G Ackleson, Kyle C Cavanaugh, Anastasia Romanou, Maria Tzortziou, Emmanuel S Boss, Ryan Pavlick, Anthony Freeman, Cecile S Rousseaux, John Dunne, Matthew C Long, Eduardo Klein, Galen A McKinley, Joachim Goes, Ricardo Letelier, Maria Kavanaugh, Mitchell Roffer, Astrid Bracher, Kevin R Arrigo, Heidi Dierssen, Xiaodong Zhang, Frank W Davis, Ben Best, Robert Guralnick, John Moisan, Heidi M Sosik, Raphael Kudela, Colleen B Mouw, Andrew H Barnard, Sherry Palacios, Collin Roesler, Evangelia G Drakou, Ward Appeltans, Walter Jetz
The biodiversity and high productivity of coastal terrestrial and aquatic habitats are the foundation for important benefits to human societies around the world. These globally distributed habitats need frequent and broad systematic assessments, but field surveys only cover a small fraction of these areas. Satellite-based sensors can repeatedly record the visible and near-infrared reflectance spectra that contain the absorption, scattering, and fluorescence signatures of functional phytoplankton groups, colored dissolved matter, and particulate matter near the surface ocean, and of biologically structured habitats (floating and emergent vegetation, benthic habitats like coral, seagrass, and algae)...
March 6, 2018: Ecological Applications: a Publication of the Ecological Society of America
Sarah Pasquin, Salma Chehboun, Agnieszka Dejda, Yasmine Meliani, Virginia Savin, Gregory J Warner, Roger Bosse, Aurélie Tormo, Gaétan Mayer, Mukut Sharma, Przemyslaw Sapieha, Catherine Martel, Jean-François Gauchat
The cytokines CLCF1 and CNTF are ligands for the CNTF receptor and the apolipoprotein E (ApoE) receptor sortilin. Both share structural similarities with the N-terminal domain of ApoE, known to bind CNTF. We therefore evaluated whether ApoE or ApoE-containing lipoproteins interact with CLCF1 and regulate its activity. We observed that CLCF1 forms complexes with the three major isoforms of ApoE in co-immunoprecipitation and proximity assays. FPLC analysis of mouse and human sera mixed with CLCF1 revealed that CLCF1 co-purifies with plasma lipoproteins...
March 5, 2018: Scientific Reports
Tjalling Bosse, Remi A Nout, Jessica N McAlpine, Melissa K McConechy, Heidi Britton, Yaser R Hussein, Carlene Gonzalez, Raji Ganesan, Jane C Steele, Beth T Harrison, Esther Oliva, August Vidal, Xavier Matias-Guiu, Nadeem R Abu-Rustum, Douglas A Levine, C Blake Gilks, Robert A Soslow
Our aim was to investigate whether molecular classification can be used to refine prognosis in grade 3 endometrial endometrioid carcinomas (EECs). Grade 3 EECs were classified into 4 subgroups: p53 abnormal, based on mutant-like immunostaining (p53abn); MMR deficient, based on loss of mismatch repair protein expression (MMRd); presence of POLE exonuclease domain hotspot mutation (POLE); no specific molecular profile (NSMP), in which none of these aberrations were present. Overall survival (OS) and recurrence-free survival (RFS) rates were compared using the Kaplan-Meier method (Log-rank test) and univariable and multivariable Cox proportional hazard models...
March 2, 2018: American Journal of Surgical Pathology
Julie L Wambaugh, Sandra Wright, Emily Boss, Shannon C Mauszycki, Catharine DeLong, William Hula, Patrick J Doyle
Purpose: This investigation was designed to examine the effects of treatment intensity (i.e., dose frequency) on the outcomes of Sound Production Treatment (SPT) for acquired apraxia of speech. Method: Five men with chronic apraxia of speech and aphasia received both intense SPT (3 hr per day/3 days per week) and nonintense/traditional SPT (SPT-T; 1 hr per day/3 days per week) in the context of single-case experimental designs. Each treatment was applied separately to a designated set of experimental words with 1 treatment applied at a time...
March 1, 2018: American Journal of Speech-language Pathology
Sophie Carter, Stéphanie Miard, Alexandre Caron, Sandrine Sallé-Lefort, Philippe St-Pierre, Fernando Forato Anhê, Emilie Lavoie-Charland, Pascale Blais-Lecours, Marie-Claude Drolet, Julie S Lefebvre, Julie Lacombe, Yves Deshaies, Jacques Couet, Mathieu Laplante, Mathieu Ferron, Yohan Bossé, André Marette, Denis Richard, David Marsolais, Frédéric Picard
The current demographic shift toward an aging population has led to a robust increase in the prevalence of age-associated metabolic disorders. Interestingly, recent studies have demonstrated that the etiology of obesity-related insulin resistance developed upon aging differs from that induced by high-calorie diets. Whereas the role of adaptive immunity on the changes in energy metabolism driven by nutritional challenges has gained attention in the past years, its impact upon aging remains mostly unknown. Here, we found that follicular B2 lymphocytes and expression levels of the B cell-specific transcriptional coactivator OcaB increase with age in spleen and in intra-abdominal epididymal white adipose tissue (eWAT), concomitantly with higher circulating levels of immunoglobulin G (IgG) and impaired glucose homeostasis...
March 1, 2018: Diabetes
Ellen M Raney, Harold J P van Bosse, Kevin G Shea, Joshua M Abzug, Richard M Schwend
INTRODUCTION: The opioid epidemic in the United States has reached crisis proportions. Urgent response is needed. Hydrocodone in combination with acetaminophen is the most prescribed drug in the United States. The most common source of opioids available for misuse is the unused portions of postoperative prescriptions. Among high school seniors, 80% of those who reported nonmedical use of prescription opioids previously had legitimate prescriptions but recreationally used leftover doses...
February 27, 2018: Journal of Pediatric Orthopedics
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