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Prudence Dy, Cristina Lajom, Josephino Sanchez
Neurogenic tumours of the mediastinum in adults occur most often at the posterior mediastinum, majority of which are benign of nerve sheath in origin. A 72-year-old woman, known asthmatic, presented with chronic symptoms of hoarseness, dysphagia, chest heaviness, easy fatigability, cough, epigastric pain, feeling of abdominal fullness and choking with food intake and at a supine position. Treated for other disorders, routine chest X-ray incidentally found a homogenous convex radiodensity at the right paratracheal area; mass which was also observed with CT and 18F-fludeoxyglucose-positron emission tomography/CT scan studies...
March 13, 2018: BMJ Case Reports
M Colinart-Thomas, V Noël, G Roques, S Gordes-Grosjean, M Abely, C Pluchart
Sickle cell disease, a hemoglobin disorder with autosomal recessive transmission, is one of the most common genetic diseases screened in France. Thanks to early management, 95% of sickle cell patients reach adulthood and require transition from pediatric care to adult care. Through a retrospective study of records from serious sickle cell patients over 17 years old, followed in the hematology-oncology pediatric unit of Reims University Hospital Center in France, we analyzed transition conditions, compared pediatric and adult management, and proposed a plan for transition care...
March 9, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Christian Mayer, Christoph Hafemeister, Rachel C Bandler, Robert Machold, Renata Batista Brito, Xavier Jaglin, Kathryn Allaway, Andrew Butler, Gord Fishell, Rahul Satija
Diverse subsets of cortical interneurons have vital roles in higher-order brain functions. To investigate how this diversity is generated, here we used single-cell RNA sequencing to profile the transcriptomes of mouse cells collected along a developmental time course. Heterogeneity within mitotic progenitors in the ganglionic eminences is driven by a highly conserved maturation trajectory, alongside eminence-specific transcription factor expression that seeds the emergence of later diversity. Upon becoming postmitotic, progenitors diverge and differentiate into transcriptionally distinct states, including an interneuron precursor state...
March 5, 2018: Nature
N Schlueter, B Luka
Erosion is a common phenomenon in the general population of developed countries. However, due to variations in indices, sample sizes and general study designs, it is difficult to compare the various studies and to estimate actual global prevalence. Therefore, the aim of this present paper is to give a narrative overview on the data available on the global prevalence of erosion. Information on prevalence is not available from each country; in particular, data from Asia, Africa, South America, North America and large parts of South-Eastern Europe are unavailable...
March 2, 2018: British Dental Journal
R Moazzez, R Austin
There are many reasons why it is vital that dental professionals identify signs and symptoms that suggest that an individual's erosive tooth wear (ETW) may be linked to a broader medical problem than just poor diet. Primarily, spotting an underlying medical cause for ETW increases the likelihood that further deterioration in the individual's oral health will be prevented. However, perhaps more importantly, many of the medical conditions which are commonly related to ETW can have serious and even possibly fatal consequences if left untreated or not diagnosed...
March 2, 2018: British Dental Journal
Stephen D Hammack, Campbell D Carter, Aaron W Skiba, Christopher A Fugger, Josef J Felver, Joseph D Miller, James R Gord, Tonghun Lee
Planar laser-induced fluorescence (PLIF) of hydroxyl (OH) and formaldehyde (CH2 O) radicals was performed alongside stereo particle image velocimetry (PIV) at a 20 kHz repetition rate in a highly turbulent Bunsen flame. A dual-pulse burst-mode laser generated envelopes of 532 nm pulse pairs for PIV as well as a pair of 355 nm pulses, the first of which was used for CH2 O PLIF. A diode-pumped solid-state Nd:YAG/dye laser system produced the excitation beam for the OH PLIF. The combined diagnostics produced simultaneous, temporally resolved two-dimensional fields of OH and CH2 O and two-dimensional, three-component velocity fields, facilitating the observation of the interaction of fluid dynamics with flame fronts and preheat layers...
March 1, 2018: Optics Letters
Lauren Jewett, Adil Harroud, Michael D Hill, Robert Côté, Theodore Wein, Eric E Smith, Gord Gubitz, Andrew M Demchuk, Demetrios J Sahlas, David J Gladstone, M Patrice Lindsay
BACKGROUND: Rapid assessment and management of transient ischemic attacks and nondisabling strokes by specialized stroke prevention services reduces the risk of recurrent stroke and improves outcomes. In Canada, with its vast geography and with 16.8% of the population living in rural areas, access to these services is challenging, and considerable variation in access to care exists. The purpose of this multiphase study was to identify sites across Canada providing stroke prevention services, evaluate resource capacity and determine geographic access for Canadians...
February 21, 2018: CMAJ Open
Jane C Bell, Francisco J Schneuer, Christopher Harrison, Lyndal Trevena, Harriet Hiscock, Adam G Elshaug, Natasha Nassar
OBJECTIVES: To evaluate the diagnosis and management of reflux and gastro-oesophageal reflux disease (GORD) in infants aged <1 year presenting to general practitioners (GPs). DESIGN, SETTING AND PARTICIPANTS: A nationally representative, prospective, cross-sectional survey of GP activity in Australia, 2006-2016 (Bettering the Evaluation And Care of Health Study). Annually, a random sample of around 1000 GPs recorded details for 100 consecutive visits with consenting, unidentified patients...
February 22, 2018: Archives of Disease in Childhood
Timothy R Rebbeck, Tara M Friebel, Eitan Friedman, Ute Hamann, Dezheng Huo, Ava Kwong, Edith Olah, Olufunmilayo I Olopade, Angela R Solano, Soo-Hwang Teo, Mads Thomassen, Jeffrey N Weitzel, T L Chan, Fergus J Couch, David E Goldgar, Torben A Kruse, Edenir Inêz Palmero, Sue Kyung Park, Diana Torres, Elizabeth J van Rensburg, Lesley McGuffog, Michael T Parsons, Goska Leslie, Cora M Aalfs, Julio Abugattas, Julian Adlard, Simona Agata, Kristiina Aittomäki, Lesley Andrews, Irene L Andrulis, Adalgeir Arason, Norbert Arnold, Banu K Arun, Ella Asseryanis, Leo Auerbach, Jacopo Azzollini, Judith Balmaña, Monica Barile, Rosa B Barkardottir, Daniel Barrowdale, Javier Benitez, Andreas Berger, Raanan Berger, Amie M Blanco, Kathleen R Blazer, Marinus J Blok, Valérie Bonadona, Bernardo Bonanni, Angela R Bradbury, Carole Brewer, Bruno Buecher, Saundra S Buys, Trinidad Caldes, Almuth Caliebe, Maria A Caligo, Ian Campbell, Sandrine Caputo, Jocelyne Chiquette, Wendy K Chung, Kathleen B M Claes, J Margriet Collée, Jackie Cook, Rosemarie Davidson, Miguel de la Hoya, Kim De Leeneer, Antoine de Pauw, Capucine Delnatte, Orland Diez, Yuan Chun Ding, Nina Ditsch, Susan M Domchek, Cecilia M Dorfling, Carolina Velazquez, Bernd Dworniczak, Jacqueline Eason, Douglas F Easton, Ros Eeles, Hans Ehrencrona, Bent Ejlertsen, Christoph Engel, Stefanie Engert, D Gareth Evans, Laurence Faivre, Lidia Feliubadaló, Sandra Fert Ferrer, Lenka Foretova, Jeffrey Fowler, Debra Frost, Henrique C R Galvão, Patricia A Ganz, Judy Garber, Marion Gauthier-Villars, Andrea Gehrig, Anne-Marie Gerdes, Paul Gesta, Giuseppe Giannini, Sophie Giraud, Gord Glendon, Andrew K Godwin, Mark H Greene, Jacek Gronwald, Angelica Gutierrez-Barrera, Eric Hahnen, Jan Hauke, Alex Henderson, Julia Hentschel, Frans B L Hogervorst, Ellen Honisch, Evgeny N Imyanitov, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul James, Ramunas Janavicius, Uffe Birk Jensen, Esther M John, Vijai Joseph, Katarzyna Kaczmarek, Beth Y Karlan, Karin Kast, KConFab Investigators, Sung-Won Kim, Irene Konstantopoulou, Jacob Korach, Yael Laitman, Adriana Lasa, Christine Lasset, Conxi Lázaro, Annette Lee, Min Hyuk Lee, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Noralane M Lindor, Michel Longy, Jennifer T Loud, Karen H Lu, Jan Lubinski, Eva Machackova, Siranoush Manoukian, Véronique Mari, Cristina Martínez-Bouzas, Zoltan Matrai, Noura Mebirouk, Hanne E J Meijers-Heijboer, Alfons Meindl, Arjen R Mensenkamp, Ugnius Mickys, Austin Miller, Marco Montagna, Kirsten B Moysich, Anna Marie Mulligan, Jacob Musinsky, Susan L Neuhausen, Heli Nevanlinna, Joanne Ngeow, Huu Phuc Nguyen, Dieter Niederacher, Henriette Roed Nielsen, Finn Cilius Nielsen, Robert L Nussbaum, Kenneth Offit, Anna Öfverholm, Kai-Ren Ong, Ana Osorio, Laura Papi, Janos Papp, Barbara Pasini, Inge Sokilde Pedersen, Ana Peixoto MSc, Nina Peruga MSc, Paolo Peterlongo, Esther Pohl, Nisha Pradhan Ba, Karolina Prajzendanc, Fabienne Prieur, Pascal Pujol, Paolo Radice, Susan J Ramus, Johanna Rantala, Muhammad Usman Rashid, Kerstin Rhiem, Mark Robson, Gustavo C Rodriguez, Mark T Rogers, Vilius Rudaitis, Ane Y Schmidt, Rita Katharina Schmutzler, Leigha Senter, Payal D Shah, Priyanka Sharma, Lucy E Side, Jacques Simard, Christian F Singer, Anne-Bine Skytte, Thomas P Slavin, Katie Snape, Hagay Sobol, Melissa Southey, Linda Steele, Doris Steinemann, Grzegorz Sukiennicki, Christian Sutter, Csilla I Szabo, Yen Y Tan, Manuel R Teixeira, Mary Beth Terry, Alex Teulé, Abigail Thomas, Darcy L Thull, Marc Tischkowitz, Silvia Tognazzo, Amanda Ewart Toland, Sabine Topka, Alison H Trainer, Nadine Tung, Christi J van Asperen, Annemieke H van der Hout, Lizet E van der Kolk, Rob B van der Luijt, Mattias Van Heetvelde, Liliana Varesco, Raymonda Varon-Mateeva, Ana Vega, Cynthia Villarreal-Garza, Anna von Wachenfeldt, Lisa Walker, Shan Wang-Gohrke, Barbara Wappenschmidt, Bernhard H F Weber, Drakoulis Yannoukakos, Sook-Yee Yoon, Cristina Zanzottera, Jamal Zidan, Kristin K Zorn, Christina G Hutten Selkirk, Peter J Hulick, Georgia Chenevix-Trench, Amanda B Spurdle, Antonis C Antoniou, Katherine L Nathanson
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on Caucasians in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on 6 continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database...
February 15, 2018: Human Mutation
Rashi Priya, Mercedes Francisca Paredes, Theofanis Karayannis, Nusrath Yusuf, Xingchen Liu, Xavier Jaglin, Isabella Graef, Arturo Alvarez-Buylla, Gord Fishell
We demonstrate that cortical interneurons derived from ventral eminences, including the caudal ganglionic eminence, undergo programmed cell death. Moreover, with the exception of VIP interneurons, this occurs in a manner that is activity-dependent. In addition, we demonstrate that, within interneurons, Calcineurin, a calcium-dependent protein phosphatase, plays a critical role in sequentially linking activity to maturation (E15-P5) and survival (P5-P20). Specifically, embryonic inactivation of Calcineurin results in a failure of interneurons to morphologically mature and prevents them from undergoing apoptosis...
February 13, 2018: Cell Reports
Hannah Grace Dahlen, Jann P Foster, Kim Psaila, Kaye Spence, Nadia Badawi, Cathrine Fowler, Virginia Schmied, Charlene Thornton
BACKGROUND: Gastro-oesophageal reflux (GOR) is common in infants. When the condition causes pathological symptoms and/or complications it is considered gastro-oesophageal reflux disease (GORD). It appears to be increasingly diagnosed and causes great distress in the first year of infancy. In New South Wales (NSW), residential parenting services support families with early parenting difficulties. These services report a large number of babies admitted with a label of GOR/GORD. The aim of this study was to explore the maternal and infant characteristics, obstetric interventions, and reasons for clinical reporting of GOR/GORD in NSW in the first 12 months following birth (2000-2011)...
February 12, 2018: BMC Pediatrics
Paul S Hsu, Naibo Jiang, Paul M Danehy, James R Gord, Sukesh Roy
Transmission of intense ultrashort laser pulses through hollow-core fibers (HCFs) is investigated for molecular-tagging velocimetry. A low-vacuumed HCF beam-delivery system is developed to transmit high-peak-power pulses. Vacuum pressure effects on transmission efficiency and nonlinear effects at the fiber output are studied for 100 ps and 100 fs laser beams. With a 0.1 bar vacuum in the fiber, transmission efficiency increases by ∼30%, while spectral broadening is reduced. A 1 m long, 1 mm core metal-dielectric-coated HCF can transmit ∼45  mJ/pulse and ∼2...
January 20, 2018: Applied Optics
T Abdelrahman, A Latif, D S Chan, H Jones, M Farag, W G Lewis, T Havard, X Escofet
BACKGROUND: Laparoscopic Anti-Reflux Surgery (LARS) is an established alternative treatment to pharmacological therapy for patients with Gastro Osophageal Reflux Disease (GORD), yet its safety and efficacy in obese patients is controversial. A systematic review and meta-analysis was performed to compare LARS related to obesity. METHODS: Embase, MEDLINE and the Cochrane Library (January 1970 to July 2017) were searched for studies reporting clinical outcomes of LARS in patient cohorts stratified by Body Mass Index (BMI)...
January 25, 2018: International Journal of Surgery
D Prakash, B Campbell, S Wajed
Introduction Gastro-oesophageal reflux disease (GORD) is a common, chronic debilitating condition. Surgical management traditionally involves fundoplication. Magnetic sphincter augmentation (MSA) is a new definitive treatment. We describe our experience of introducing this innovative therapy into NHS practice and report the early clinical outcomes. Methods MSA was introduced into NHS practice following successful acceptance of a cost-effective business plan and close observation of National Institute for Health and Care Excellence (NICE) recommendations for new procedures, including a carefully planned prospective data collection over a two-year follow-up period...
January 24, 2018: Annals of the Royal College of Surgeons of England
Vignan Yogendrakumar, Eric E Smith, Andrew M Demchuk, Richard I Aviv, David Rodriguez-Luna, Carlos A Molina, Yolanda Silva Blas, Imanuel Dzialowski, Adam Kobayashi, Jean-Martin Boulanger, Cheemun Lum, Gord Gubitz, Vasantha Padma, Jayanta Roy, Carlos S Kase, Rohit Bhatia, Myzoon Ali, Patrick Lyden, Michael D Hill, Dar Dowlatshahi
OBJECTIVES: There are limited data as to what degree of early neurologic change best relates to outcome in acute intracerebral hemorrhage. We aimed to derive and validate a threshold for early postintracerebral hemorrhage change that best predicts 90-day outcomes. DESIGN: Derivation: retrospective analysis of collated clinical stroke trial data (Virtual International Stroke Trials Archive). VALIDATION: retrospective analysis of a prospective multicenter cohort study (Prediction of haematoma growth and outcome in patients with intracerebral haemorrhage using the CT-angiography spot sign [PREDICT])...
January 4, 2018: Critical Care Medicine
Qi Guo, Stephen Burgess, Constance Turman, Manjeet K Bolla, Qin Wang, Michael Lush, Jean Abraham, Kristiina Aittomäki, Irene L Andrulis, Carmel Apicella, Volker Arndt, Myrto Barrdahl, Javier Benitez, Christine D Berg, Carl Blomqvist, Stig E Bojesen, Bernardo Bonanni, Judith S Brand, Hermann Brenner, Annegien Broeks, Barbara Burwinkel, Carlos Caldas, Daniele Campa, Federico Canzian, Jenny Chang-Claude, Stephen J Chanock, Suet-Feung Chin, Fergus J Couch, Angela Cox, Simon S Cross, Cezary Cybulski, Kamila Czene, Hatef Darabi, Peter Devilee, W Ryan Diver, Alison M Dunning, Helena M Earl, Diana M Eccles, Arif B Ekici, Mikael Eriksson, D Gareth Evans, Peter A Fasching, Jonine Figueroa, Dieter Flesch-Janys, Henrik Flyger, Susan M Gapstur, Mia M Gaudet, Graham G Giles, Gord Glendon, Mervi Grip, Jacek Gronwald, Lothar Haeberle, Christopher A Haiman, Per Hall, Ute Hamann, Susan Hankinson, Jaana M Hartikainen, Alexander Hein, Louise Hiller, Frans B Hogervorst, Bernd Holleczek, Maartje J Hooning, Robert N Hoover, Keith Humphreys, David J Hunter, Anika Hüsing, Anna Jakubowska, Arja Jukkola-Vuorinen, Rudolf Kaaks, Maria Kabisch, Vesa Kataja, Julia A Knight, Linetta B Koppert, Veli-Matti Kosma, Vessela N Kristensen, Diether Lambrechts, Loic Le Marchand, Jingmei Li, Annika Lindblom, Sara Lindström, Jolanta Lissowska, Jan Lubinski, Mitchell J Machiela, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Federik Marme, John W M Martens, Catriona McLean, Primitiva Menéndez, Roger L Milne, Anna Marie Mulligan, Taru A Muranen, Heli Nevanlinna, Patrick Neven, Sune F Nielsen, Børge G Nordestgaard, Janet E Olson, Jose I A Perez, Paolo Peterlongo, Kelly-Anne Phillips, Christopher J Poole, Katri Pylkäs, Paolo Radice, Nazneen Rahman, Thomas Rüdiger, Anja Rudolph, Elinor J Sawyer, Fredrick Schumacher, Petra Seibold, Caroline Seynaeve, Mitul Shah, Ann Smeets, Melissa C Southey, Rob A E M Tollenaar, Ian Tomlinson, Helen Tsimiklis, Hans-Ulrich Ulmer, Celine Vachon, Ans M W van den Ouweland, Laura J Van't Veer, Hans Wildiers, Walter Willett, Robert Winqvist, M Pilar Zamora, Georgia Chenevix-Trench, Thilo Dörk, Douglas F Easton, Montserrat García-Closas, Peter Kraft, John L Hopper, Wei Zheng, Marjanka K Schmidt, Paul D P Pharoah
Background: There is increasing evidence that elevated body mass index (BMI) is associated with reduced survival for women with breast cancer. However, the underlying reasons remain unclear. We conducted a Mendelian randomization analysis to investigate a possible causal role of BMI in survival from breast cancer. Methods: We used individual-level data from six large breast cancer case-cohorts including a total of 36 210 individuals (2475 events) of European ancestry...
December 1, 2017: International Journal of Epidemiology
Antti I Koivusalo, Risto J Rintala, Mikko P Pakarinen
AIM OF THE STUDY: Conservative management of gastrooesophageal reflux (GORD) in oesophageal atresia (OA) is sometimes inefficient, and fundoplication is required. We assessed the outcomes of fundoplication among OA patients from 1980 to 2016. METHODS: After ethical consent, hospital records of 290 patients, including 22 referred patients, were reviewed. Included were 262 patients with end-to-end repair. Excluded were patients who underwent oesophageal reconstruction (n=23) or no repair (n=5)...
February 2018: Journal of Pediatric Surgery
Eivind Ness-Jensen, Jesper Lagergren
Gastro-oesophageal reflux disease (GORD) develops when reflux of gastric content causes troublesome symptoms or complications. The main symptoms are heartburn and acid regurgitation and complications include oesophagitis, strictures, Barrett's oesophagus and oesophageal adenocarcinoma. In addition to hereditary influence, GORD is associated with lifestyle factors, mainly obesity. Tobacco smoking is regarded as an aetiological factor of GORD, while alcohol consumption is considered a triggering factor of reflux episodes and not a causal factor...
October 2017: Best Practice & Research. Clinical Gastroenterology
Theodore Wein, M Patrice Lindsay, Robert Côté, Norine Foley, Joseph Berlingieri, Sanjit Bhogal, Aline Bourgoin, Brian H Buck, Jafna Cox, Dion Davidson, Dar Dowlatshahi, Jim Douketis, John Falconer, Thalia Field, Laura Gioia, Gord Gubitz, Jeffrey Habert, Sharon Jaspers, Cheemun Lum, Dana McNamara Morse, Paul Pageau, Mubeen Rafay, Amanda Rodgerson, Bill Semchuk, Mukul Sharma, Ashkan Shoamanesh, Arturo Tamayo, Elisabeth Smitko, David J Gladstone
The 2017 update of The Canadian Stroke Best Practice Recommendations for the Secondary Prevention of Stroke is a collection of current evidence-based recommendations intended for use by clinicians across a wide range of settings. The goal is to provide guidance for the prevention of ischemic stroke recurrence through the identification and management of modifiable vascular risk factors. Recommendations include those related to diagnostic testing, diet and lifestyle, smoking, hypertension, hyperlipidemia, diabetes, antiplatelet and anticoagulant therapies, carotid artery disease, atrial fibrillation, and other cardiac conditions...
January 1, 2017: International Journal of Stroke: Official Journal of the International Stroke Society
Richard H Swartz, Noor Niyar N Ladhani, Norine Foley, Kara Nerenberg, Simerpreet Bal, Jon Barrett, Cheryl Bushnell, Wee-Shian Chan, Radha Chari, Dariush Dowlatshahi, Meryem El Amrani, Shital Gandhi, Gord Gubitz, Michael D Hill, Andra James, Thomas Jeerakathil, Albert Jin, Adam Kirton, Sylvain Lanthier, Andrea Lausman, Lisa Rae Leffert, Jennifer Mandzia, Bijoy Menon, Aleksandra Pikula, Alexandre Poppe, Jayson Potts, Joel Ray, Gustavo Saposnik, Mukul Sharma, Eric E Smith, Sanjit Bhogal, Elisabeth Smitko, M Patrice Lindsay
The Canadian Stroke Best Practice Consensus Statement: Secondary Stroke Prevention during Pregnancy, is the first of a two-part series devoted to stroke in pregnancy. This document focuses on unique aspects of secondary stroke prevention in a woman with a prior history of stroke or transient ischemic attack who is, or is planning to become, pregnant. Although stroke is relatively rare in this cohort, several aspects of pregnancy can increase stroke risk during or immediately after pregnancy. The rationale for the development of this consensus statement is based on the premise that stroke in this group requires a specifically-tailored management approach...
January 1, 2017: International Journal of Stroke: Official Journal of the International Stroke Society
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