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https://www.readbyqxmd.com/read/29911554/-place-of-the-expert-patient-when-assessing-medicinal-products-the-industry-perspective
#1
Catherine Raynaud
No abstract text is available yet for this article.
May 2018: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/29909388/lymphedema-secondary-to-limited-cutaneous-systemic-sclerosis
#2
Sónia Moreira, Jorge Crespo, Lèlita Santos
Systemic sclerosis (SSc) is an autoimmune connective tissue disease characterised by vascular abnormalities, immune system activation and fibrosis. Lymphatic involvement in SSc was described more recently and starts in early stages. This report describes a 46-year-old patient who developed over the last 2 years asymmetric lymphedema in lower extremities. Compromise in lymphatic drainage was confirmed by lymphoscintigraphy. She also presented Raynaud's phenomenon, a scleroderma pattern in nailfold capillaroscopy, cutaneous thickening and anticentromere antibodies, which together resulted in a new diagnosis of limited cutaneous SSc...
June 15, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29903759/l-leucine-increases-translation-of-rps14-and-larp1-in-erythroblasts-from-del-5q-myelodysplastic-syndrome-patients
#3
Erica Bello, Jonathan Kerry, Shalini Singh, Bon Ham Yip, Rajko Kušec, Sally Killick, Sophie Raynaud, Jacqueline Boultwood, Andrea Pellagatti
No abstract text is available yet for this article.
June 14, 2018: Haematologica
https://www.readbyqxmd.com/read/29901772/sox9-has-distinct-regulatory-roles-in-alternative-splicing-and-transcription
#4
Michael Girardot, Elsa Bayet, Justine Maurin, Philippe Fort, Pierre Roux, Peggy Raynaud
SOX9 is known as a crucial transcription factor for various developmental processes and for tissue homeostasis. We examined here its potential role in alternative splicing by analyzing global splicing changes, using RNA-seq of colon tumor cells. We show that SOX9 knockdown alters the splicing of hundreds of genes without affecting their expression levels, revealing that SOX9 controls distinct splicing and transcriptional programs. SOX9 does not affect splicing patterns through the control of splicing factors expression...
June 13, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29901012/prognosis-in-pregnant-females-with-systemic-lupus-erythematosus
#5
Enling Liu, Yuxiu Zhou
Objectives: This study aims to analyze the relationship between pregnancy and lupus, and explore the risk factors that adversely affect maternal and infant outcomes. Patients and methods: The pregnancy outcomes in 112 pregnant females (mean age 24.3±2.8 years; range 20 to 35 years) with systemic lupus erythematosus (SLE) were retrospectively analyzed. Pregnancy outcomes before and after pregnancy were compared, and the associations with lupus nephritis, positive anti-Ro/SSA antibody, positive La/SSB antibody, complement 3 and complement 4, high blood pressure, positive anti- cardiolipin (aCL) antibody, Raynaud's phenomenon, and lupus recurrence were evaluated...
December 2017: Archives of Rheumatology
https://www.readbyqxmd.com/read/29899452/targeted-therapy-in-patients-with-pik3ca-related-overgrowth-syndrome
#6
Quitterie Venot, Thomas Blanc, Smail Hadj Rabia, Laureline Berteloot, Sophia Ladraa, Jean-Paul Duong, Estelle Blanc, Simon C Johnson, Clément Hoguin, Olivia Boccara, Sabine Sarnacki, Nathalie Boddaert, Stephanie Pannier, Frank Martinez, Sato Magassa, Junna Yamaguchi, Bertrand Knebelmann, Pierre Merville, Nicolas Grenier, Dominique Joly, Valérie Cormier-Daire, Caroline Michot, Christine Bole-Feysot, Arnaud Picard, Véronique Soupre, Stanislas Lyonnet, Jeremy Sadoine, Lotfi Slimani, Catherine Chaussain, Cécile Laroche-Raynaud, Laurent Guibaud, Christine Broissand, Jeanne Amiel, Christophe Legendre, Fabiola Terzi, Guillaume Canaud
CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA-related overgrowth syndromes (PROS). This rare condition has no specific treatment and a poor survival rate. Here, we describe a postnatal mouse model of PROS/CLOVES that partially recapitulates the human disease, and demonstrate the efficacy of BYL719, an inhibitor of PIK3CA, in preventing and improving organ dysfunction...
June 13, 2018: Nature
https://www.readbyqxmd.com/read/29875934/-localized-scleroderma-about-24-cases
#7
Sara Elloudi, Hanane Baybay, Salim Gallouj, Fatima Zohra Mernissi
Morphea, also known as localized scleroderma, is defined as a sclerosus skin condition that can extend to the subcutaneous tissue but with no Raynaud's phenomenon or visceral involvement. Some clinical forms may have a functional and aesthetic impact, hence the interest of treatment of early stage inflammation. We here describe the epidemio-clinical, therapeutic and evolutionary features of different forms of morphea, by reporting a series of 24 cases.
2018: Pan African Medical Journal
https://www.readbyqxmd.com/read/29871697/the-effects-of-upper-and-lower-limb-exercise-on-the-microvascular-reactivity-in-limited-cutaneous-systemic-sclerosis-patients
#8
A Mitropoulos, A Gumber, H Crank, M Akil, M Klonizakis
BACKGROUND: Aerobic exercise in general and high-intensity interval training (HIIT) specifically is known to improve vascular function in a range of clinical conditions. HIIT in particular has demonstrated improvements in clinical outcomes, in conditions that have a strong macroangiopathic component. Nevertheless, the effect of HIIT on microcirculation in systemic sclerosis (SSc) patients is yet to be investigated. Therefore, the purpose of the study was to compare the effects of two HIIT protocols (cycle and arm cranking) on the microcirculation of the digital area in SSc patients...
June 5, 2018: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/29866668/case-of-primary-sjogren-s-syndrome-preceded-by-dystonia
#9
Kerime Ararat, Idanis Berrios, Anas Hannoun, Carolina Ionete
There are only six cases in literature that describe development of dystonia with Sjogren's syndrome (SS). We describe a case of a 43-year-old woman who presented with symptoms including movement disorder, sensory neurogenic bladder, sensory loss and neuropathic pain, migraine like headaches, musculoskeletal pain, Raynaud's phenomenon and dysautonomia. Symptoms started in 2000, with weakness that progressed to dystonia in 2003. Diagnostic work-up was inconclusive with negative inflammatory serologies, cerebrospinal fluid and MRI for many years...
June 4, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29866252/a-rare-case-of-kikuchi-fujimoto-disease-associated-with-systemic-lupus-erythematosus
#10
Attia Bari, Fatima Zeeshan, Ghazala Hanif, Uzma Jabeen, Iqbal Bano, Ahsan Waheed Rathore
Kikuchi-Fujimoto Disease (KFD), also known as histiocytic necrotizing lymphadenitis, is a self-remitting, immune-mediated rare disorder having unique histopathological characteristics which is commonly seen in young Asian females, but can occur in all ethnicities. There is a strong association between KFD and Systemic Lupus Erythematosus (SLE). We present a case of a young Pakistani boy who presented with cervical lymphadenopathy, fever, blackish discoloration of finger tips, and Raynaud's phenomenon. His lymph node biopsy was suggestive of KFD...
June 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29851707/trends-and-patterns-of-antidepressant-use-in-french-children-and-adolescents-from-2009-to-2016-a-population-based-study-in-the-french-health-insurance-database
#11
Alexis Revet, François Montastruc, Jean-Philippe Raynaud, Bérangère Baricault, Jean-Louis Montastruc, Maryse Lapeyre-Mestre
PURPOSE/BACKGROUND: Over the last decade, the use of antidepressants (ATDs) in children and adolescents has markedly increased in several occidental countries, but recent data in French children are missing. This study aimed to assess trends of ATD use in French children (6-11 years) and adolescents (12-17 years) and to characterize changes in ATD prescribing patterns from 2009 to 2016. METHODS: Using data from the French Health Insurance Database, annual prevalence and incidence of ATD use and changes in ATD prescribing patterns were analyzed...
May 30, 2018: Journal of Clinical Psychopharmacology
https://www.readbyqxmd.com/read/29846161/prevalence-and-spectrum-of-symptomatic-pulmonary-involvement-in-primary-sj%C3%A3-gren-s-syndrome
#12
Christos F Kampolis, Sofia Fragkioudaki, Clio P Mavragani, Alexandra Zormpala, Anastasia Samakovli, Haralampos M Moutsopoulos
OBJECTIVES: The present cross-sectional study aimed to estimate the prevalence of chronic respiratory symptoms in primary Sjögren's syndrome (pSS) and define the clinical, functional and imaging characteristics of symptomatic pulmonary disease in pSS. METHODS: Four hundred and fourteen consecutive pSS patients were interviewed for the presence of chronic respiratory complaints (cough and/or dyspnea). Symptomatic pSS patients without respiratory or other comorbidities underwent further investigation with clinical evaluation and assessment with pulmonary functional testing (PFTs) and chest high resolution CT (hrCT) on inspiratory and expiratory phase...
May 29, 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29844404/dsgost-regulates-resistance-via-activation-of-autophagy-in-gastric-cancer
#13
Tae Woo Kim, Seon Young Lee, Mia Kim, Chunhoo Cheon, Bo-Hyoung Jang, Yong Cheol Shin, Seong-Gyu Ko
Danggui-Sayuk-Ga-Osuyu-Saenggang-Tang (DSGOST in Korean, Danggui-Sini-Jia-Wuzhuyu-Shengian-Tang in Chinese, and Tokishigyakukagoshuyushokyoto (TJ-38) in Japanese), a well-known traditional Korean/Chinese/Japanese medicine, has long been used to treat vascular diseases such as Raynaud's phenomenon (RP). However, anticancer effect of DSGOST remains elusive. In this study, we checked if DSGOST has an anticancer effect against gastric cancer cells, and investigated the mechanisms underlying DSGOST resistance. Moreover, DSGOST regulates chemoresistance in cisplatin-treated gastric cancer cells...
May 29, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29796907/the-impact-of-anti-u1-rnp-positivity-systemic-lupus-erythematosus-versus-mixed-connective-tissue-disease
#14
REVIEW
Alina Dima, Ciprian Jurcut, Cristian Baicus
Anti-U1-RNP positivity remains mandatory for the mixed connective tissue disease (MCTD) diagnosis, reason for which anti-U1-RNP occurrence in patients with lupus clinical features might determine diagnostic issues. Thus, the prevalence of 25-30% for anti-RNP was reported in John Hopkins and LUMINA lupus cohorts and also 13% prevalence for the anti-U1-RNP in Euro-Lupus cohort. Presence of anti-U1-RNP antibodies in patients fulfilling SLE criteria (but not the MCTD ones) was associated with manifestations such as Raynaud phenomenon, musculoskeletal and lung impairment or nail fold capillaroscopy changes, some clinical features frequently encountered in MCTD patients and only rarely described in lupus population...
May 23, 2018: Rheumatology International
https://www.readbyqxmd.com/read/29790453/thyroid-hypoplasia-in-congenital-hypothyroidism-associated-with-thyroid-peroxidase-mutations
#15
Athanasia Stoupa, Rim Chaabane, Manelle Guériouz, Catherine Raynaud-Ravni, Patrick Nitschke, Christine Bole-Feyset, Mouna Mnif, Leila Ammar Keskes, Mongia Hachicha, Neila Belguith, Michel Polak, Aurore Carré
CONTEXT: Primary congenital hypothyroidism (CH) affects about 1:3000 newborns worldwide and is mainly caused by defects in thyroid gland development (thyroid dysgenesis, TD) or hormone synthesis. A genetic cause is identified in less than 10% of TD patients. Our aim was to identify novel candidate genes in patients with TD using next-generation sequencing tools. PATIENT FINDINGS: We used whole exome sequencing (WES) to study two families, a consanguineous Tunisian family (one child with severe thyroid hypoplasia) and a French family (two newborn siblings, with a thyroid in situ that was not enlarged on ultrasound at diagnosis)...
May 23, 2018: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29787366/parasympathetic-activity-increases-with-digital-microvascular-damage-and-vascular-endothelial-growth-factor-in-systemic-sclerosis
#16
Antonietta Gigante, Domenico Margiotta, Luca Navarini, Marta Liberatori, Biagio Barbano, Luigi Tubani, Antonella Afeltra, Edoardo Rosato
OBJECTIVES: The imbalance between angiogenic and angiostatic factors with derangement of the microvasculature are hallmarks of systemic sclerosis (SSc). Raynaud's phenomenon in SSc probably is due to the impaired neuroendothelial control mechanisms between vasoconstriction and vasodilatation. The aim of this study is to evaluate autonomic nervous system function using heart rate variability (HRV) analysis and to correlate with vascular endothelial growth factor (VEGF). METHODS: Twenty-seven SSc patients were enrolled...
May 11, 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29781586/treatment-algorithms-for-systemic-sclerosis-according-to-experts
#17
Andreu Fernández-Codina, Kyle M Walker, Janet E Pope
INTRODUCTION: Treatment for many aspects of systemic sclerosis (SSc) lacks agreement. OBJECTIVES: To generate SSc treatment algorithms endorsed by high percentage of SSc experts. METHODS: Experts from the Scleroderma Clinical Trials Consortium and the Canadian Scleroderma Research group (N=170) were asked whether they agreed with SSc algorithms (from 2012). Two consensus rounds refined agreement; 62 (36%), 54 (32%) and 48 (28%) experts completed surveys...
May 21, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29774953/dermoscopic-patterns-of-filiform-papillae-of-the-tongue-in-patients-with-and-without-connective-tissue-autoimmune-diseases
#18
José Manuel Díaz-González, María E Vega-Memije, Adalberto Mosqueda-Taylor, Víctor Noé García-Edgar, Juan Carlos Cuevas-González
BACKGROUND: Connective tissue autoimmune diseases (CTADs) constitute a group of conditions, including rheumatoid arthritis; systemic lupus erythematosus; mixed connective tissue disease; calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (CREST) syndrome; scleroderma; dermatomyositis; and Sjögren syndrome. There are few studies on the alterations in filiform papillae in CTAD. Thus, the objective of this work was to determine whether there are changes in the macroscopic and dermoscopic patterns of filiform papillae...
May 18, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29762713/snap23-kif5-complex-controls-mglu1-receptor-trafficking
#19
Fabrice Raynaud, Vincent Homburger, Martial Seveno, Oana Vigy, Enora Moutin, Laurent Fagni, Julie Perroy
Metabotropic glutamate receptors are expressed at excitatory synapses and control synaptic transmission in mammalian brain. These receptors are involved in numerous patho-physiological functions. However, little is known about the molecular determinants responsible for their intracellular transport and membrane targeting. Here we investigated the nature of the molecular motor and adaptor protein responsible for trafficking and membrane localization of the group I metabotropic glutamate mGlu1 post-synaptic receptor in cultured hippocampal neurons...
May 14, 2018: Journal of Molecular Cell Biology
https://www.readbyqxmd.com/read/29750280/can-sensation-of-cold-hands-predict-raynaud-s-phenomenon-or-paraesthesia
#20
D Carlsson, J Wahlström, L Burström, M Hagberg, R Lundström, H Pettersson, T Nilsson
Background: Raynaud's phenomenon and neurosensory symptoms are common after hand-arm vibration exposure. Knowledge of early signs of vibration injuries is needed. Aims: To investigate the risk of developing Raynaud's phenomenon and paraesthesia in relation to sensation of cold hands in a cohort of male employees at an engineering plant. Methods: We followed a cohort of male manual and office workers at an engineering plant in Sweden for 21 years...
May 10, 2018: Occupational Medicine
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