keyword
MENU ▼
Read by QxMD icon Read
search

fournier syndrome

keyword
https://www.readbyqxmd.com/read/29627532/effector-memory-cd8-t-cells-synergize-with-co-stimulation-competent-macrophages-to-trigger-autoimmune-peripheral-neuropathy
#1
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 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
#2
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
#3
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...
March 6, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29275885/dynamic-qt-interval-changes-from-supine-to-standing-in-healthy-children
#4
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
#5
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
#6
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
#7
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...
September 8, 2017: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28856443/circadian-rhythm-of-blood-cardiac-troponin-t-concentration
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/28679547/connected-gene-communities-underlie-transcriptional-changes-in-cornelia-de-lange-syndrome
#15
Imène Boudaoud, Éric Fournier, Audrey Baguette, Maxime Vallée, Fabien C Lamaze, Arnaud Droit, Steve Bilodeau
Cornelia de Lange syndrome (CdLS) is a complex multisystem developmental disorder caused by mutations in cohesin subunits and regulators. While its precise molecular mechanisms are not well defined, they point toward a global deregulation of the transcriptional gene expression program. Cohesin is associated with the boundaries of chromosome domains and with enhancer and promoter regions connecting the three-dimensional genome organization with transcriptional regulation. Here, we show that connected gene communities, structures emerging from the interactions of noncoding regulatory elements and genes in the three-dimensional chromosomal space, provide a molecular explanation for the pathoetiology of CdLS associated with mutations in the cohesin-loading factor NIPBL and the cohesin subunit SMC1A NIPBL and cohesin are important constituents of connected gene communities that are centrally positioned at noncoding regulatory elements...
September 2017: Genetics
https://www.readbyqxmd.com/read/28673974/mrg15-mediated-tethering-of-palb2-to-unperturbed-chromatin-protects-active-genes-from-genotoxic-stress
#16
Jean-Yves Bleuyard, Marjorie Fournier, Ryuichiro Nakato, Anthony M Couturier, Yuki Katou, Christine Ralf, Svenja S Hester, Daniel Dominguez, Daniela Rhodes, Timothy C Humphrey, Katsuhiko Shirahige, Fumiko Esashi
The partner and localiser of BRCA2 (PALB2) plays important roles in the maintenance of genome integrity and protection against cancer. Although PALB2 is commonly described as a repair factor recruited to sites of DNA breaks, recent studies provide evidence that PALB2 also associates with unperturbed chromatin. Here, we investigated the previously poorly described role of chromatin-associated PALB2 in undamaged cells. We found that PALB2 associates with active genes through its major binding partner, MRG15, which recognizes histone H3 trimethylated at lysine 36 (H3K36me3) by the SETD2 methyltransferase...
July 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28588577/immune-reconstitution-inflammatory-syndrome-unmasking-or-worsening-aids-related-progressive-multifocal-leukoencephalopathy-a-literature-review
#17
REVIEW
Anna Fournier, Guillaume Martin-Blondel, Emmanuèle Lechapt-Zalcman, Julia Dina, Apolline Kazemi, Renaud Verdon, Emmanuel Mortier, Arnaud de La Blanchardière
Incidence of progressive multifocal leukoencephalopathy (PML) in HIV-infected patients has declined in the combined antiretroviral therapy (cART) era although a growing number of acquired immunodeficiency syndrome (AIDS)-related PML-immune reconstitution inflammatory syndromes (PML-IRIS) have been published during the same period. Therapeutic management of PML-IRIS is not consensual and mainly relies on corticosteroids. Our main aim was, in addition to provide a thoughtful analysis of published PML-IRIS cases, to assess the benefit of corticosteroids in the management of PML-IRIS, focusing on confirmed cases...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28574193/emergency-department-visits-for-dental-problems-not-associated-with-trauma-in-alberta-canada
#18
Rafael Figueiredo, Kerri Fournier, Liran Levin
OBJECTIVES: The objective of this report was to describe the frequency of emergency department (ED) visits for dental problems not associated with trauma (DPNAT) in Alberta, Canada, over a 5-year period. METHODS: In Alberta, ED visits for DPNAT between 1 January 2011 and 30 April 2016 were identified using the codes from the International Statistical Classification of Diseases and Related Health Problems, 10th Revision, Canada (ICD-10-CA). The codes for DPNAT range from K00 to K14, described as diseases of the oral cavity, salivary glands and jaws...
June 2, 2017: International Dental Journal
https://www.readbyqxmd.com/read/28566930/fournier-s-gangrene-a-rare-complication-of-sweet-s-syndrome
#19
Hoon Choi, Yoon Soo Kim, Chan Ho Na, Bong Seok Shin
No abstract text is available yet for this article.
June 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/28499586/-gemcitabine-induced-thrombotic-microangiopathy-can-we%C3%A2-improve-screening-and%C3%A2-treatment
#20
Xavier Charmetant, Anne Jolivot, Thomas Fournier, Jean-Charles Puthet, Philippe Cassier, Sandrine Lemoine, Laurent Juillard
Thrombotic microangiopathy is a rare but severe complication of treatment with gemcitabine. Its prevalence increases because gemcitabine's indications are growing. We report four cases, which presented with common clinical and biological manifestations, i.e. high blood pressure, proteinuria and increasing plasmatic creatinine level. However, severity was not similar, hemodialysis was inconstant. There is no consensus on treatment for this condition. Stopping gemcitabine is essential. Treatment was dispensed considering the severity of the presentation: plasma exchange therapy of variable outcome, and eculizumab, which was efficient when used...
June 2017: Néphrologie & Thérapeutique
keyword
keyword
55859
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"