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https://www.readbyqxmd.com/read/28905878/detecting-splicing-patterns-in-genes-involved-in-hereditary-breast-and-ovarian-cancer
#1
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
#2
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
#3
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...
August 30, 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
#4
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
#5
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
#6
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
#7
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...
July 14, 2017: 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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
https://www.readbyqxmd.com/read/28416458/on-the-origins-of-sex-based-differences-in-respiratory-disorders-lessons-and-hypotheses-from-stress-neuroendocrinology-in-developing-rats
#16
REVIEW
Jean-Philippe Rousseau, Luana Tenorio-Lopes, Cécile Baldy, Tara Adele Janes, Stéphanie Fournier, Richard Kinkead
The environment plays a critical role in shaping development and function of the brain. Stress, especially when experienced early in life, can interfere with these processes. In the context of respiratory control, perinatal stress can therefore alter the ability to achieve the "fine-tuning" necessary for proper detection of chemosensory stimuli and production of an adequate motor (respiratory) command. Depending on the timing, intensity, and duration, the detrimental consequences of perinatal exposure to adverse conditions on the respiratory network become manifest at various life stages and can persist into adulthood...
April 14, 2017: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/28413388/a-case-report-of-cushing-s-disease-presenting-as-hair-loss
#17
Emily G Lefkowitz, Jack P Cossman, John B Fournier
Cushing's syndrome is a rare endocrine disorder that comprises a large group of signs and symptoms resulting from chronic exposure to excess corticosteroids. Most cases of Cushing's syndrome are due to increased adrenocorticotropic hormone production from a pituitary adenoma, which is referred to as Cushing's disease. Most of the signs and symptoms are nonspecific and common in the general population, making a diagnosis often challenging. However, several dermatological manifestations, such as fragile skin, easy bruising, and reddish purple striae, are more discriminatory...
January 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/28412928/poplar-stem-transcriptome-is-massively-remodelled-in-response-to-single-or-repeated-mechanical-stimuli
#18
Lise Pomiès, Mélanie Decourteix, Jérôme Franchel, Bruno Moulia, Nathalie Leblanc-Fournier
BACKGROUND: Trees experience mechanical stimuli -like wind- that trigger thigmomorphogenetic syndrome, leading to modifications of plant growth and wood quality. This syndrome affects tree productivity but is also believed to improve tree acclimation to chronic wind. Wind is particularly challenging for trees, because of their stature and perenniality. Climate change forecasts are predicting that the occurrence of high wind will worsen, making it increasingly vital to understand the mechanisms regulating thigmomorphogenesis, especially in perennial plants...
April 17, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28321087/myelodysplastic-syndrome-diagnosed-on-the-occasion-of-fournier-s-gangrene
#19
Masaaki Adachi, Kimiyoshi Mitsuhashi, Hiroyuki Matsuda, Junko Watanabe, Katsuya Nakanishi
Fournier's gangrene (FG) is a fulminant infective necrotizing fasciitis, which includes the genital, perineal, and perianal regions. A 77-year-old man had previously been diagnosed as having diabetes mellitus (DM) and was treated with pioglitazone (15 mg) and miglitol (150 mg). He developed sudden perineal discomfort, fever with painful penile, and scrotal edema, subsequently leading to urinary retention. According to physical examination and CT scan results for the swollen penis and scrotum, he was diagnosed with FG...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28317816/hemophagocytic-syndrome-secondary-to-tuberculosis-at-24-week-gestation
#20
Alexandra Arteaga Fernández, David Fernández de Velasco Pérez, M C Jiménez Fournier, J C Moreno Del Prado, B Paraíso Torras, M L Cañete Palomo
Hemophagocytic syndrome is a life-threatening disease characterized by the uncontrolled activation of macrophages, resulting in hemophagocytosis of blood cells in the bone marrow. A 20-year-old gravida at 23-week and 5-day gestation was admitted to hospital to evaluate fever up to 104°F of unknown origin, moderate cytopenia, and elevated levels of liver enzymes. Bone marrow biopsy confirmed hemophagocytic syndrome, and polymerase chain reaction came back positive for Mycobacterium tuberculosis. Supportive care and tuberculosis treatment resulted in clinical improvement...
January 2017: International Journal of Mycobacteriology
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