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https://www.readbyqxmd.com/read/29790453/thyroid-hypoplasia-in-congenital-hypothyroidism-associated-with-thyroid-peroxidase-mutations
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/29745875/interstitial-lung-disease-in-patients-with-mixed-connective-tissue-disease-pilot-study-on-predictors-of-lung-involvement
#7
Neha Narula, Tathagat Narula, Isabel Mira-Avendano, Benjamin Wang, Andy Abril
OBJECTIVES: Mixed connective tissue disease (MCTD) is an immune-mediated systemic disorder characterised by serum autoantibodies against U1-ribonucleoprotein and diverse multisystemic clinical manifestations. Approximately 50% of patients with MCTD develop a radiologic pattern of interstitial lung disease (ILD). Our single centre, cross-sectional study sought to identify clinical and serologic associations of ILD in patients with MCTD which may serve as predictors of lung disease and prognosis...
May 8, 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29732705/persistent-acrocyanosis-a-rare-manifestation-revealing-anti-pl12-syndrome
#8
Philippe Mertz, Mathilde Herber, Juliette Jeannel, Anne-Sophie Korganow, Aurélien Guffroy
A 69-year-old woman with asthenia, anorexia and weight loss lasting for several weeks was referred for a subacute onset of painful permanent acrocyanosis of the four extremities without Raynaud's phenomenon. She also had concomitantly developed grade I/IV (NYHA) dyspnea. A physical examination revealed livedoid acrocyanosis of distal phalanges of the hands (Fig. 1A), which was associated with flame-shaped hemorrhages (Fig. 1B, arrow-head), dilated capillaries at the proximal nailfolds (Fig. 1B, arrow), Gottron's sign over the MCP and PIP joints and a discrete heliotrope rash with a palpable V-shaped rash of the upper chest and forehead...
May 6, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29728705/pathogenic-variants-in-e3-ubiquitin-ligase-rlim-rnf12-lead-to-a-syndromic-x-linked-intellectual-disability-and-behavior-disorder
#9
Suzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, Ute Grasshoff, Bas de Hoon, Michael Field, Sylvie Manouvrier-Hanu, Scott E Hickey, Molka Kammoun, Karen W Gripp, Claudia Bauer, Christopher Schroeder, Annick Toutain, Theresa Mihalic Mosher, Benjamin J Kelly, Peter White, Andreas Dufke, Eveline Rentmeester, Sungjin Moon, Daniel C Koboldt, Kees E P van Roozendaal, Hao Hu, Stefan A Haas, Hans-Hilger Ropers, Lucinda Murray, Eric Haan, Marie Shaw, Renee Carroll, Kathryn Friend, Jan Liebelt, Lynne Hobson, Marjan De Rademaeker, Joep Geraedts, Jean-Pierre Fryns, Joris Vermeesch, Martine Raynaud, Olaf Riess, Joost Gribnau, Nicholas Katsanis, Koen Devriendt, Peter Bauer, Jozef Gecz, Christelle Golzio, Cristina Gontan, Vera M Kalscheuer
RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We report the genetic and clinical findings of 84 individuals from nine unrelated families, eight of whom who have pathogenic variants in RLIM (RING finger LIM domain-interacting protein). A total of 40 affected males have X-linked intellectual disability (XLID) and variable behavioral anomalies with or without congenital malformations...
May 4, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29728522/muscular-and-extramuscular-clinical-features-of-patients-with-anti-pm-scl-autoantibodies
#10
Rebecca De Lorenzo, Iago Pinal-Fernandez, Wilson Huang, Jemima Albayda, Eleni Tiniakou, Cheilonda Johnson, Jose C Milisenda, Maria Casal-Dominguez, Andrea M Corse, Sonye K Danoff, Lisa Christopher-Stine, Julie J Paik, Andrew L Mammen
OBJECTIVE: To define the clinical features of myositis patients with anti-PM/Scl-75 and/or anti-PM/Scl-100 autoantibodies at disease onset and during the course of disease and compare them to patients with other forms of myositis. METHODS: In this longitudinal cohort study, the prevalence and severity of clinical features at disease onset and during follow-up were compared between anti-PM/Scl-positive patients and those with the antisynthetase syndrome (AS), dermatomyositis (DM), and immune-mediated necrotizing myopathy (IMNM)...
May 4, 2018: Neurology
https://www.readbyqxmd.com/read/29710694/seeking-the-optimal-hematocrit-may-hemorheological-modelling-provide-a-solution
#11
Jean-Frédéric Brun, Emmanuelle Varlet-Marie, Marlène Richou, Eric Raynaud de Mauverger
Hematocrit increases during exercise and is usually decreased after regular training. However the interpretation of these facts is ambiguous since hematocrit is both a determinant of oxygen supply and the major determinant of blood viscosity. Classically hematocrit was assumed to impair blood flow, but it has been evidenced to exert a biphasic effect on it. In order to cope with these two apparently opposite effects of hematocrit, hemorheologists have proposed the concept hematocrit/viscosity ratio (h/η). This h/η ratio is related to tissue oxygenation in vascular diseases (eg, POAD) but not in healthy subjects...
April 14, 2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29709561/selective-recovery-of-rnas-from-bacterial-pathogens-after-their-internalization-by-human-host-cells
#12
Simon Raynaud, Hélène LePabic, Brice Felden
Selective RNA extractions are required when studying bacterial gene expression within complex mixtures of pathogens and human cells, during adhesion, internalization and survival within the host. New technologies should be developed and implemented to enrich the amount of bacterial RNAs since the majority of RNAs are from the eukaryotic host cells, requiring high read depth coverage to capture the bacterial transcriptomes in dual-RNAseq studies. This will improve our understanding about bacterial adaptation to the host cell defenses, and about how they will adapt to an intracellular life...
April 27, 2018: Methods: a Companion to Methods in Enzymology
https://www.readbyqxmd.com/read/29706243/practical-suggestions-on-intravenous-iloprost-in-raynaud-s-phenomenon-and-digital-ulcer-secondary-to-systemic-sclerosis-systematic-literature-review-and-expert-consensus
#13
REVIEW
Francesca Ingegnoli, Tommaso Schioppo, Yannick Allanore, Roberto Caporali, Michele Colaci, Oliver Distler, Daniel E Furst, Nicolas Hunzelmann, Florenzo Iannone, Dinesh Khanna, Marco Matucci-Cerinic
BACKGROUND: Systemic sclerosis (SSc) is an autoimmune chronic disease characterized by vascular impairment, immune dysfunction and collagen deposition. Raynaud's phenomenon (RP) and digital ulcers (DU) are prominent features of SSc. Intravenous (IV) iloprost (ILO), according to the recently updated EULAR recommendations, is indicated for RP after failure of oral therapy. Moreover, IV ILO could be useful in DU healing. IV ILO is currently available mainly on the European market approved for RP secondary to SSc with 3-5 days infusion cycle...
April 4, 2018: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/29698501/association-of-raynaud-s-phenomenon-with-a-polymorphism-in-the-nos1-gene
#14
Sabrina Munir, Maxim B Freidin, Susan Brain, Frances M K Williams
BACKGROUND: Raynaud's phenomenon (RP) describes the phenomenon of recurrent vasospasm of digital arteries, associated with skin colour changes: pallor, cyanosis and erythema. Twin studies have indicated a genetic predisposition for RP; however, the precise aetiology of RP remains unknown. It is thought that genetic variation in temperature-responsive or vasospastic genes might underlie RP so performed a candidate gene study in a large, population based sample. We assessed the association between RP and single nucleotide polymorphisms (SNPs) in the TRPA1, TRPM8, CALCA, CALCB and NOS1 genes...
2018: PloS One
https://www.readbyqxmd.com/read/29687566/intralesional-bleomycin-injection-vs-microneedling-assisted-topical-bleomycin-spraying-in-treatment-of-plantar-warts
#15
Mohamed R Al-Naggar, Ahmad S Al-Adl, Ali R Rabie, Mahmoud R Abdelkhalk, Mohamed L Elsaie
BACKGROUND: Warts, or verrucae, are benign epithelial profilerations of skin and mucosa caused by infection with HPV and poses a challenge to treat. OBJECTIVE: To compare between single and microneedling-assisted multipuncture techniques of intralesional application in treatment of plantar warts. METHODS: The study included 60 Patients who were divided into two groups (A&B). Each group consisted of (30) patients. Group (A) subjects received intralesional bleomycin with a single injection using syringe needle...
April 23, 2018: Journal of Cosmetic Dermatology
https://www.readbyqxmd.com/read/29686439/clinical-pattern-of-systemic-sclerosis-in-central-ukraine-association-between-clinical-manifestations-of-systemic-sclerosis-and-hypertension
#16
Viktor Semenov, Olexandr Kuryata, Tatiana Lysunets
Objectives: Systemic sclerosis (SSc) is a rare disease of connective tissue, manifestations of which may vary in different geographical areas. We aimed to describe the clinical portrait of patients with SSc in Dnipropetrovsk region and to investigate how initial clinical and laboratory characteristics are connected with the presence of hypertension in SSc onset. Material and methods: Patients were enrolled to this study from the registry of SSc patients, established in the Rheumatology Department, Mechnikov Dnipropetrovsk Regional Clinic, Dnipro...
2018: Reumatologia
https://www.readbyqxmd.com/read/29667101/clinical-features-risk-factors-and-outcomes-of-patients-with-interstitial-pneumonia-with-autoimmune-features-a-population-based-study
#17
Jinghong Dai, Lei Wang, Xin Yan, Hui Li, Kefeng Zhou, Jian He, Fanqing Meng, Siyi Xu, Geyu Liang, Hourong Cai
To investigate the clinical features, risk factors and outcomes of patients with interstitial pneumonia with autoimmune features (IPAF). A total of 1429 patients with idiopathic interstitial pneumonia (IIP) and undifferentiated connective tissue disease-associated interstitial lung disease (UCTD-ILD) were screened to identify patients who met IPAF criteria. Clinical, serological, and morphological features of patients with IPAF were characterized. Outcomes between patients with IPAF, UCTD-ILD, and IIP who were divided into idiopathic pulmonary fibrosis (IPF) and non-IPF groups were compared using survival as an endpoint...
April 18, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29666638/from-localized-scleroderma-to-systemic-sclerosis-coexistence-or-possible-evolution
#18
Giuggioli Dilia, Colaci Michele, Cocchiara Emanuele, Spinella Amelia, Lumetti Federica, Ferri Clodoveo
Background: Systemic sclerosis (SSc) and localized scleroderma (LoS) are two different diseases that may share some features. We evaluated the relationship between SSc and LoS in our case series of SSc patients. Methods: We analysed the clinical records of 330 SSc patients, in order to find the eventual occurrence of both the two diseases. Results: Eight (2.4%) female patients presented both the two diagnoses in their clinical histories...
2018: Dermatology Research and Practice
https://www.readbyqxmd.com/read/29665800/mda-5-associated-rapidly-progressive-interstitial-lung-disease-with-recurrent-pneumothoraces-a-case-report
#19
Safi Alqatari, Peter Riddell, Sinead Harney, Michael Henry, Grainne Murphy
BACKGROUND: Clinically hypomyopathic dermatomyositis is a rare disease that is important to recognize, investigate and treat early as it is associated with poor prognosis. In a proportion of patients, myositis specific antibodies could be negative, but with high clinical suspicion, myositis associated antibodies should be ordered. Anti-MDA-5 antibodies was reported in literature to be associated with severe and rapidly progressive interstitial lung disease, with few case reports of pneumothorax and/or pneumomediastinum...
April 17, 2018: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/29660919/blood-rheology-as-a-mirror-of-endocrine-and-metabolic-homeostasis-in-health-and-disease1
#20
Jean-Frédéric Brun, Emmanuelle Varlet-Marie, Marlène Richou, Jacques Mercier, Eric Raynaud de Mauverger
 Rheological properties of plasma and blood cells are markedly influenced by the surrounding milieu: physicochemical factors, metabolism and hormones. Acid/base status, osmolality, lipid status, plasma protein pattern, oxidative stress induced by increased free radicals production, endothelium-derived factors such as nitric oxide (NO), achidonic acid derivatives modulate both red blood cell (RBC) and white cell mechanics. Therefore, regulatory axes involving liver, endothelium, kidney, pancreas, adrenal gland, endocrine heart, adipose tissue, pituitary gland, and surely other tissues play important roles in the regulation of blood fluidity...
April 7, 2018: Clinical Hemorheology and Microcirculation
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