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https://www.readbyqxmd.com/read/29879364/patterns-of-dental-agenesis-highlight-the-nature-of-the-causative-mutated-genes
#1
B P Fournier, M H Bruneau, S Toupenay, S Kerner, A Berdal, V Cormier-Daire, S Hadj-Rabia, A E Coudert, M de La Dure-Molla
The most common outcome of defective dental morphogenesis in human patients is dental agenesis (absence of teeth). This may affect either the primary or permanent dentition and can range from 5 or fewer missing teeth (hypodontia), 6 or more (oligodontia), to complete absence of teeth (anodontia). Both isolated and syndromic dental agenesis have been reported to be associated with a large number of mutated genes. The aim of this review was to analyze the dental phenotypes of syndromic and nonsyndromic dental agenesis linked to gene mutations...
June 1, 2018: Journal of Dental Research
https://www.readbyqxmd.com/read/29875399/networks-of-blood-proteins-in-the-neuroimmunology-of-schizophrenia
#2
Clark D Jeffries, Diana O Perkins, Margot Fournier, Kim Q Do, Michel Cuenod, Ines Khadimallah, Enrico Domenici, Jean Addington, Carrie E Bearden, Kristin S Cadenhead, Tyrone D Cannon, Barbara A Cornblatt, Daniel H Mathalon, Thomas H McGlashan, Larry J Seidman, Ming Tsuang, Elaine F Walker, Scott W Woods
Levels of certain circulating cytokines and related immune system molecules are consistently altered in schizophrenia and related disorders. In addition to absolute analyte levels, we sought analytes in correlation networks that could be prognostic. We analyzed baseline blood plasma samples with a Luminex platform from 72 subjects meeting criteria for a psychosis clinical high-risk syndrome; 32 subjects converted to a diagnosis of psychotic disorder within two years while 40 other subjects did not. Another comparison group included 35 unaffected subjects...
June 6, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29866048/intragenic-sequences-in-the-trophectoderm-harbour-the-greatest-proportion-of-methylation-errors-in-day-17-bovine-conceptuses-generated-using-assisted-reproductive-technologies
#3
Alan M O'Doherty, Paul McGettigan, Rachelle E Irwin, David A Magee, Dominic Gagne, Eric Fournier, Abdullah Al-Naib, Marc-André Sirard, Colum P Walsh, Claude Robert, Trudee Fair
BACKGROUND: Assisted reproductive technologies (ART) are widely used to treat fertility issues in humans and for the production of embryos in mammalian livestock. The use of these techniques, however, is not without consequence as they are often associated with inauspicious pre- and postnatal outcomes including premature birth, intrauterine growth restriction and increased incidence of epigenetic disorders in human and large offspring syndrome in cattle. Here, global DNA methylation profiles in the trophectoderm and embryonic discs of in vitro produced (IVP), superovulation-derived (SOV) and unstimulated, synchronised control day 17 bovine conceptuses (herein referred to as AI) were interrogated using the EmbryoGENE DNA Methylation Array (EDMA)...
June 5, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29733035/psychosocial-risks-burnout-and-intention-to-quit-following-the-introduction-of-new-software-at-work
#4
Mouna Knani, Pierre-Sébastien Fournier, Caroline Biron
BACKGROUND: Despite a rich literature on association between psychosocial factors, the demand-control-support (DCS) model and burnout, there are few integrated frameworks encompassing the DCS model, burnout and intention to quit, particularly in a technological context. OBJECTIVE: This manuscript examines the relationships between psychosocial risks, the demand-control-support (DCS) model, burnout syndrome and intention to quit following the introduction of new software at work...
May 1, 2018: Work: a Journal of Prevention, Assessment, and Rehabilitation
https://www.readbyqxmd.com/read/29696617/-clinical-and-neuropsychological-characteristics-in-congenital-central-hypoventilation-syndrome
#5
R Seijas-Gomez, B Esteso-Orduna, J Melero-Llorente, M C Fournier-Del Castillo
INTRODUCTION: Congenital central hypoventilation syndrome (CCHS) syndrome is a rare disease caused by mutations in the PHOX2B gene. Patients show a reduced response to hypercapnia and hypoxia accompanied by diffuse disturbances of the autonomic nervous system and occasionaly also disturbances in neuroimaging. A specific neuropsychological profile has not been described in children and adolescents with CCHS. CASE REPORTS: We describe three cases (aged between 4 and 19 years) with different profiles of affectation in cognitive and functionality...
May 1, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29669023/the-relevance-of-vitamin-and-iron-deficiency-in-patients-with-inflammatory-bowel-diseases-in-patients-of-the-swiss-ibd-cohort
#6
Matiar Madanchi, Stefania Fagagnini, Nicolas Fournier, Luc Biedermann, Jonas Zeitz, Edouard Battegay, Lukas Zimmerli, Stephan R Vavricka, Gerhard Rogler, Michael Scharl
Background andAims: Vitamin and iron deficiencies are common in patients with inflammatory bowel disease (IBD) as a result of chronic intestinal inflammation, increase in demand, or dietary restrictions. Here, we assessed the frequency of complications in relation to deficiency of iron, folate acid, and vitamin B12 in patients enrolled in the nationwide Swiss Inflammatory Bowel Disease Cohort Study (SIBDCS). Methods: A total of 2666 patients were included in the study, 1558 with Crohn's disease (CD) and 1108 with ulcerative colitis (UC)...
April 13, 2018: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/29627532/effector-memory-cd8-t-cells-synergize-with-co-stimulation-competent-macrophages-to-trigger-autoimmune-peripheral-neuropathy
#7
Mu Yang, Xiang Qun Shi, Corentin Peyret, Oladayo Oladiran, Sonia Wu, Julien Chambon, Sylvie Fournier, Ji Zhang
Autoimmune peripheral neuropathy (APN) such as Guillain Barre Syndrome (GBS) is a debilitating illness and sometimes life threatening. The molecular and cellular mechanisms remain elusive but exposure to environmental factors including viral/bacterial infection and injury is highly associated with disease incidence. We demonstrated previously that both male and female B7.2 (CD86) transgenic L31 and L31/CD4KO mice develop spontaneous APN. Here we further reveal that CD8+ T cells in these mice exhibit an effector/memory phenotype, which bears a resemblance to the CD8+ T cell response following persistent cytomegalovirus (CMV) infection in humans and mice, whilst CMV has been considered as one of the most relevant pathogens in APN development...
April 5, 2018: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/29619644/road-traffic-accidents-a-pictorial-review
#8
Sanaa Kissi, L Fournier, N How Kit
Road traffic accidents are still a major cause of morbidity and mortality. With well-established whole-body CT protocols in trauma, radiologists are an integral part of trauma diagnosis and management teams. Five well-recognized traumatic syndromes (seat belt syndrome, handlebar syndrome, scapulothoracic dissociation, dashboard syndrome, and brake pedal injury) with their frequent associated complications should be diagnosed precociously according to the accident mechanism to avoid diagnostic delays and poor prognosis even if the circumstances seem minor...
April 4, 2018: Emergency Radiology
https://www.readbyqxmd.com/read/29511999/med13l-related-intellectual-disability-involvement-of-missense-variants-and-delineation-of-the-phenotype
#9
T Smol, F Petit, A Piton, B Keren, D Sanlaville, A Afenjar, S Baker, E C Bedoukian, E J Bhoj, D Bonneau, E Boudry-Labis, S Bouquillon, O Boute-Benejean, R Caumes, N Chatron, C Colson, C Coubes, C Coutton, F Devillard, A Dieux-Coeslier, M Doco-Fenzy, L J Ewans, L Faivre, E Fassi, M Field, C Fournier, C Francannet, D Genevieve, I Giurgea, A Goldenberg, A K Green, A M Guerrot, D Heron, B Isidor, B A Keena, B L Krock, P Kuentz, E Lapi, N Le Meur, G Lesca, D Li, I Marey, C Mignot, C Nava, A Nesbitt, G Nicolas, C Roche-Lestienne, T Roscioli, V Satre, A Santani, M Stefanova, S Steinwall Larsen, P Saugier-Veber, S Picker-Minh, C Thuillier, A Verloes, G Vieville, M Wenzel, M Willems, S Whalen, Y A Zarate, A Ziegler, S Manouvrier-Hanu, V M Kalscheuer, B Gerard, Jamal Ghoumid
Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects. Phenotype of the patients was referred to "MED13L haploinsufficiency syndrome." Missense variants in MED13L were already previously described to cause the MED13L-related syndrome, but only in a limited number of patients. Here we report 36 patients with MED13L molecular anomaly, recruited through an international collaboration between centers of expertise for developmental anomalies...
May 2018: Neurogenetics
https://www.readbyqxmd.com/read/29275885/dynamic-qt-interval-changes-from-supine-to-standing-in-healthy-children
#10
Audrey Dionne, Anne Fournier, Nagib Dahdah, Dominic Abrams, Paul Khairy, Sylvia Abadir
BACKGROUND: QT-interval variations in response to exercise-induced increases in heart rate have been reported in children and adults in the diagnosis of long QT syndrome (LQTS). A quick standing challenge has been proposed as an alternative provocative test in adults, with no pediatric data yet available. METHODS: A standing test was performed in 100 healthy children (mean age, 9.7 ± 3.1 years) after 10 minutes in a supine position with continuous electrocardiographic recording...
January 2018: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/29153942/metabolic-syndrome-and-low-high-density-lipoprotein-cholesterol-are-associated-with-adverse-pathological-features-in-patients-with-prostate-cancer-treated-by-radical-prostatectomy
#11
Souhil Lebdai, Romain Mathieu, Julie Leger, Olivier Haillot, Sébastien Vincendeau, Nathalie Rioux-Leclercq, Georges Fournier, Marie-Aimée Perrouin-Verbe, Laurent Doucet, Abdel Rahmene Azzouzi, Jérome Rigaud, Karine Renaudin, Thomas Charles, Franck Bruyere, Gaelle Fromont
BACKGROUND: Previous studies have suggested a link between metabolic syndrome (MetS) and prostate cancer (PCa). In the present study, we aimed to assess the association between MetS and markers of PCa aggressiveness on radical prostatectomy (RP). METHODS: All patients consecutively treated for PCa by RP in 6 academic institutions between August 2013 and July 2016 were included. MetS was defined as at least 3 of 5 components (obesity, elevated blood pressure, diabetes, low high-density lipoprotein (HDL)-cholesterol, and hypertriglyceridemia)...
February 2018: Urologic Oncology
https://www.readbyqxmd.com/read/28905878/detecting-splicing-patterns-in-genes-involved-in-hereditary-breast-and-ovarian-cancer
#12
Grégoire Davy, Antoine Rousselin, Nicolas Goardon, Laurent Castéra, Valentin Harter, Angelina Legros, Etienne Muller, Robin Fouillet, Baptiste Brault, Anna S Smirnova, Fréderic Lemoine, Pierre de la Grange, Marine Guillaud-Bataille, Virginie Caux-Moncoutier, Claude Houdayer, Françoise Bonnet, Cécile Blanc-Fournier, Pascaline Gaildrat, Thierry Frebourg, Alexandra Martins, Dominique Vaur, Sophie Krieger
Interpretation of variants of unknown significance (VUS) is a major challenge for laboratories performing molecular diagnosis of hereditary breast and ovarian cancer (HBOC), especially considering that many genes are now known to be involved in this syndrome. One important way these VUS can have a functional impact is through their effects on RNA splicing. Here we present a custom RNA-Seq assay plus bioinformatics and biostatistics pipeline to analyse specifically alternative and abnormal splicing junctions in 11 targeted HBOC genes...
October 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28887729/intestinal-microbiome-gut-brain-axis-and-irritable-bowel-syndrome
#13
REVIEW
Gabriele Moser, Camille Fournier, Johannes Peter
Psychological comorbidity is highly present in irritable bowel syndrome (IBS). Recent research points to a role of intestinal microbiota in visceral hypersensitivity, anxiety, and depression. Increased disease reactivity to psychological stress has been described too. A few clinical studies have attempted to identify features of dysbiosis in IBS. While animal studies revealed strong associations between stress and gut microbiota, studies in humans are rare. This review covers the most important studies on intestinal microbial correlates of psychological and clinical features in IBS, including stress, anxiety, and depression...
March 2018: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28856443/circadian-rhythm-of-blood-cardiac-troponin-t-concentration
#14
Stephane Fournier, Lea Iten, Pedro Marques-Vidal, Olivier Boulat, Daniel Bardy, Ahmed Beggah, Rachel Calderara, Beata Morawiec, Nathalie Lauriers, Pierre Monney, Juan F Iglesias, Patrizio Pascale, Brahim Harbaoui, Eric Eeckhout, Olivier Muller
INTRODUCTION: High-sensitivity cardiac troponin assays have significantly improved the sensitivity of myocardial infarction detection by using cutoff values and early absolute changes. However, variation in repeated measures also depends on biological variability. This study aimed to assess the potential circadian component of this biological variability. METHODS: 17 healthy volunteers were recruited, and standardized conditions for physical activity, meals, exposure to light and duration of sleep were imposed...
December 2017: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
https://www.readbyqxmd.com/read/28757106/-quality-of-oocytes-and-embryos-from-women-with-polycystic-ovaries-syndrome-state-of-the-art
#15
A Fournier, A Torre, L Delaroche, A Gala, T Mullet, A Ferrières, S Hamamah
The frequency of polycystic ovary syndrome (PCOS) and the consequent fertility disorders cause many difficulties in the management of the assisted reproductive technics. Some studies are focused on different additional treatments, stimulation protocols or techniques that could optimize the in vitro fertilization cycles. The quality of the oocytes and embryos of these patients is also an outstanding issue. They remain difficult to actually evaluate during management, and none of the few published studies on this subject demonstrated any inferiority, compared to control patients...
July 27, 2017: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/28723479/infectious-complications-of-circumcision-and-their-prevention
#16
REVIEW
Itzhak Brook
CONTEXT: A growing body of evidence supports the health benefits of circumcision, but the occurrence of infectious complications is of concern. OBJECTIVE: To review literature presenting past data and studies of infectious complications of circumcision and their prevention. EVIDENCE ACQUISITION: A literature search was conducted of the Cochrane Library, Embase, Turning Research into Practice, PubMed, and Medline databases from their inception through June 25, 2015...
October 2016: European Urology Focus
https://www.readbyqxmd.com/read/28712002/mutations-in-gfpt1-related-congenital-myasthenic-syndromes-are-associated-with-synaptic-morphological-defects-and-underlie-a-tubular-aggregate-myopathy-with-synaptopathy
#17
Stéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, Marie-Joséphine Fontenille, Elodie De Bruyckere, Claire-Sophie Davoine, Guy Brochier, Julien Messéant, Lucie Wolf, Michel Fardeau, Emmanuelle Lacène, Norma Romero, Jeanine Koenig, Emmanuel Fournier, Daniel Hantaï, Nathalie Streichenberger, Veronique Manel, Arnaud Lacour, Aleksandra Nadaj-Pakleza, Sylvie Sukno, Françoise Bouhour, Pascal Laforêt, Bertrand Fontaine, Laure Strochlic, Bruno Eymard, Frédéric Chevessier, Tanya Stojkovic, Sophie Nicole
Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a limb-girdle congenital myasthenic syndrome (LG-CMS) with tubular aggregates (TAs) characterized predominantly by affection of the proximal skeletal muscles and presence of highly organized and remodeled sarcoplasmic tubules in patients' muscle biopsies. We report here the first long-term clinical follow-up of 11 French individuals suffering from LG-CMS with TAs due to GFPT1 mutations, of which nine are new...
August 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28708033/neuropsychological-profile-and-social-cognition-in-congenital-central-hypoventilation-syndrome-cchs-correlation-with-neuroimaging-in-a-clinical-case
#18
Borja Esteso Orduña, Raquel Seijas Gómez, Elena García Esparza, Emily M Briceño, Javier Melero Llorente, María de la Concepción Fournier Del Castillo
INTRODUCTION: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder due to paired-like homeobox gene (PHOX2B) mutations. CCHS patients suffer from dysregulation of the autonomic nervous system characterized by the absence of or extremely reduced response to hypercapnia and hypoxia, with neuropsychological deficits. The aim of this exploratory study is to describe the longitudinal neuropsychological profile and its correlations with magnetic resonance imaging (MRI) of a child with CCHS with a PHOX2B mutation...
February 2018: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/28698323/performance-of-highly-sensitive-cardiac-troponin-t-assay-to-detect-ischaemia-at-pet-ct-in-low-risk-patients-with-acute-coronary-syndrome-a-prospective-observational-study
#19
Beata Morawiec, Stephane Fournier, Maxime Tapponnier, John O Prior, Pierre Monney, Vincent Dunet, Nathalie Lauriers, Frederique Recordon, Catalina Trana, Juan-Fernando Iglesias, Damian Kawecki, Olivier Boulat, Daniel Bardy, Sabine Lamsidri, Eric Eeckhout, Olivier Hugli, Olivier Muller
BACKGROUND: Highly sensitive troponin T (hs-TnT) assay has improved clinical decision-making for patients admitted with chest pain. However, this assay's performance in detecting myocardial ischaemia in a lowrisk population has been poorly documented. PURPOSE: To assess hs-TnT assay's performance to detect myocardial ischaemia at positron emission tomography/CT (PET-CT) in low-risk patients admitted with chest pain. METHODS: Patients admitted for chest pain with a nonconclusive ECG and negative standard cardiac troponin T results at admission and after 6 hours were prospectively enrolled...
July 10, 2017: BMJ Open
https://www.readbyqxmd.com/read/28692440/cefepime-associated-with-phenytoin-induced-stevens-johnson-syndrome
#20
José Marco-Del Río, Esther Domingo-Chiva, Pablo Cuesta-Montero, Ana Valladolid-Walsh, Eva María García-Martínez
We describe a recent case of Stevens-Johnson Syndrome. A 49-year-old man was admitted to the Intensive Care Unit of an Anaesthesia and Resuscitation Department because of a Fournier gangrene that derived in a sepsis, ventilator-associated pneumonia, and renal failure. He was under treatment with cefepime and suffered a generalized status epilepticus, so started treatment with phenytoin. The next day he developed a "maculous cutaneous eruption in trunk and lower limbs" compatible with a Stevens-Johnson Syndrome...
July 2017: American Journal of Therapeutics
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