keyword
MENU ▼
Read by QxMD icon Read
search

Raynaud disease

keyword
https://www.readbyqxmd.com/read/28344932/mutation-in-tnxb-gene-causes-moderate-to-severe-ehlers-danlos-syndrome
#1
Carolyn S Kaufman, Merlin G Butler
We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud's phenomenon, and hypermobility. She was found to have a 6074A > T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025Val classified as likely pathogenic. We add this clinical report to the literature and classical human disease gene catalogs to identify this specific mutation as disease-causing. This gene variant was reported previously in a different 36-year-old patient who shared our patient's symptoms of joint hypermobility, skeletal and joint pain, skin elasticity and musculoskeletal problems, thereby causing a more severe presentation than seen in the hypermobility type of Ehlers-Danlos syndrome (EDS)...
May 27, 2016: World J Med Genet
https://www.readbyqxmd.com/read/28343718/-comparative-evaluation-of-dermoscopy-and-capillaroscopy-in-raynaud-s-phenomenon
#2
J Moreau, A-S Dupond, N Dan, T Untereiner, C Vidal, F Aubin
OBJECTIVE: Raynaud's phenomenon (RP) is a common cause for consultation. Capillaroscopy is a well-established technique to detect capillary abnormalities suggestive of a connective tissue disease, but it is sometimes unavailable. The aim of this study was to compare dermoscopy and capillaroscopy in the assessment of RP. METHODS: This was a prospective single-centre observational study in adult patients consulting for RP at the Hôpital Nord Franche-Comté between January 2014 and June 2015...
March 23, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28329526/chronic-granulomatous-disease-as-a-risk-factor-for-cutaneous-lupus-in-childhood
#3
Sandrina Carvalho, Susana Machado, Rita Sampaio, Margarida Guedes, Júlia Vasconcelos, Diogo Semedo, Manuela Selores
Chronic granulomatous disease (CGD) is a primaryimmunodeficiency disorder that affects the phagocyticcells of the innate immune system. It is characterizedby recurrent or persistent infections with granulomaformation. Lupus-like lesions have been reported incarriers of CGD and less frequently, in patients withCGD. Immunological study in these patients areusually negative. We describe the case of an 8-yearoldboy with CGD who developed chronic and acutecutaneous lupus erythematous with angular cheilitis,oral ulcers, Raynaud phenomenon, and positiveserologies for antinuclear, anticentromere, and anti-Saccharomyces cerevisiae antibodies...
March 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28303481/morphea-and-eosinophilic-fasciitis-an-update
#4
REVIEW
Jorre S Mertens, Marieke M B Seyger, Rogier M Thurlings, Timothy R D J Radstake, Elke M G J de Jong
Morphea, also known as localized scleroderma, encompasses a group of idiopathic sclerotic skin diseases. The spectrum ranges from relatively mild phenotypes, which generally cause few problems besides local discomfort and visible disfigurement, to subtypes with severe complications such as joint contractures and limb length discrepancies. Eosinophilic fasciitis (EF, Shulman syndrome) is often regarded as belonging to the severe end of the morphea spectrum. The exact driving mechanisms behind morphea and EF pathogenesis remain to be elucidated...
March 16, 2017: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/28292796/hand-arm-vibration-syndrome-what-family-physicians-should-know
#5
REVIEW
Shixin Cindy Shen, Ronald A House
OBJECTIVE: To provide family physicians with an understanding of the epidemiology, pathogenesis, symptoms, diagnosis, and management of hand-arm vibration syndrome (HAVS), an important and common occupational disease in Canada. SOURCES OF INFORMATION: A MEDLINE search was conducted for research and review articles on HAVS. A Google search was conducted to obtain gray literature relevant to the Canadian context. Additional references were obtained from the articles identified...
March 2017: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/28286685/acute-vision-loss-following-endoscopic-sinus-surgery
#6
Serena Byrd, Adnan S Hussaini, Jastin Antisdel
A 41-year-old female with a history of uterine cancer and Celiac and Raynaud's Disease presented to our institution with frequent migraines and nasal congestion. She underwent functional endoscopic sinus surgery (FESS) and experienced acute unilateral vision loss postoperatively. Rapid recognition of the etiology and effective treatment are paramount given the permanent and irreversible vision loss that can result. Arterial vasospasm following FESS is rare. Patients with autoimmune diseases have perhaps an increased risk for vasospasm secondary to an increased vasoreactive profile...
2017: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/28265301/assessing-histone-demethylase-inhibitors-in-cells-lessons-learned
#7
Stephanie B Hatch, Clarence Yapp, Raquel C Montenegro, Pavel Savitsky, Vicki Gamble, Anthony Tumber, Gian Filippo Ruda, Vassilios Bavetsias, Oleg Fedorov, Butrus Atrash, Florence Raynaud, Rachel Lanigan, LeAnne Carmichael, Kathy Tomlin, Rosemary Burke, Susan M Westaway, Jack A Brown, Rab K Prinjha, Elisabeth D Martinez, Udo Oppermann, Christopher J Schofield, Chas Bountra, Akane Kawamura, Julian Blagg, Paul E Brennan, Olivia Rossanese, Susanne Müller
BACKGROUND: Histone lysine demethylases (KDMs) are of interest as drug targets due to their regulatory roles in chromatin organization and their tight associations with diseases including cancer and mental disorders. The first KDM inhibitors for KDM1 have entered clinical trials, and efforts are ongoing to develop potent, selective and cell-active 'probe' molecules for this target class. Robust cellular assays to assess the specific engagement of KDM inhibitors in cells as well as their cellular selectivity are a prerequisite for the development of high-quality inhibitors...
2017: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/28256352/post-traumatic-raynaud-s-phenomenon-a-case-report
#8
Liang Jie Cheok, Chee Kheong Ooi
BACKGROUND: Raynaud's phenomenon has multiple etiologies, ranging from occupational causes to systemic disease. Most occupational causes of Raynaud's phenomenon usually present with vascular compromise. CASE REPORT: A 41-year-old Chinese woman presented to the emergency department with progressive pain and bluish discoloration over her right index finger after minor trauma. The clinical examination revealed discoloration over multiple fingertips on both hands. She was diagnosed with Raynaud's phenomenon with possible underlying systemic disease...
February 27, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28240590/a-meta-analysis-of-avascular-necrosis-in-systemic-lupus-erythematosus-prevalence-and-risk-factors
#9
Tatiana Nevskaya, Maeve P Gamble, Janet E Pope
OBJECTIVES: To determine the prevalence of and risk factors for avascular necrosis (AVN) in systemic lupus erythematosus (SLE). METHODS: MEDLINE, CINAHL, Web of Science, EMBASE and Cochrane Library were searched from inception to July, 2015 and a random effects model was used to combine frequencies; study quality was assessed using STROBE. RESULTS: 2,041 citations identified 62 articles. Many results had high heterogeneity. The prevalence of symptomatic AVN was 9% (range 0...
February 24, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28217959/anti-rnpc3-antibodies-as-a-marker-of-cancer-associated-scleroderma
#10
Ami A Shah, George Xu, Antony Rosen, Laura K Hummers, Fredrick M Wigley, Stephen J Elledge, Livia Casciola-Rosen
INTRODUCTION: Prior studies have demonstrated an increased risk of cancer-associated scleroderma in patients with RNA polymerase III (POL) autoantibodies and in patients negative for anti-centromere (CENP), anti-topoisomerase-1 (TOPO), and anti-POL antibodies (referred to as CENP/TOPO/POL (CTP)-Negative). In a recent study of 16 CTP-negative scleroderma patients with coincident cancer, we found that 25% had autoantibodies to RNPC3, a member of the minor spliceosome complex. In this investigation, we validated the relationship between anti-RNPC3 antibodies and cancer and examined the associated clinical phenotype in a large sample of scleroderma patients...
February 19, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28203114/longitudinal-analysis-of-quality-of-life-in-patients-with-undifferentiated-connective-tissue-diseases
#11
Michele Iudici, Rosaria Irace, Antonella Riccardi, Giovanna Cuomo, Serena Vettori, Gabriele Valentini
INTRODUCTION/OBJECTIVES: To prospectively assess the quality of life (QoL) of patients affected by undifferentiated connective tissue diseases (UCTDs) and to identify factors associated with changes over time. PATIENTS AND METHODS: A total of 46 consecutive UCTD patients completed the Short-Form 36 (SF-36) questionnaire at presentation and then yearly. At each 6-month visit, all patients underwent a detailed history taking and a laboratory and physical assessment, in order to follow the evolution of the disease over time and to assess the the co-existence of fibromyalgia...
2017: Patient related Outcome Measures
https://www.readbyqxmd.com/read/28197938/clinical-efficacy-and-safety-of-bathing-with-chinese-medicine-taohong-siwu-decoction-for-treatment-of-diffuse-cutaneous-systemic-sclerosis-a-randomized-placebo-controlled-trial
#12
Jing Zhou, Dong Yang, Shu-Hong Zhou, Jin-Ping Wang, Yue-Shu Liu, Shu-Lan Wang
OBJECTIVE: To examine the efficacy and safety of bathing therapy with Taohong Siwu Decoction (, TSD) in the treatment of early-stage, mild-moderate diffuse cutaneous systemic sclerosis (dcSSc). METHODS: This randomized, placebo-controlled trial enrolled 148 men and women (18-60 years) with dcSSc (disease duration ≤12 months) and baseline modified Rodnan skin score (MRSS) ≥10. Patients were randomized into a TSD group (71 cases bathing with TSD plus oral prednisone) or control group (71 cases bathing with placebo plus oral prednisone)...
February 15, 2017: Chinese Journal of Integrative Medicine
https://www.readbyqxmd.com/read/28188718/-hematopoietic-stem-cells-transplant-in-patients-with-common-variable-immunodeficiency-is-a-therapeutic-option
#13
Julio César Cambray-Gutiérrez, Diana Andrea Herrera-Sánchez, Patricia López-Pérez, Aurora Chávez-García, Marco Antonio Yamazaki-Nakashimada
BACKGROUND: Patients with common variable immunodeficiency show higher incidence of sinopulmonary and gastrointestinal infections, as well as lymphoproliferative and autoimmune diseases. The treatment of choice is replacement therapy with human gamma-globulin. Hematopoietic stem cell transplantation is a non-conventional therapeutic modality. CASE REPORT: Twenty-six-year old woman with no family or hereditary history of primary immune deficiencies or consanguinity, with repeated episodes of otitis, sinusitis, gastroenteritis and bronchitis since childhood...
January 2017: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/28147261/clinical-follow-up-predictors-of-disease-pattern-change-in-anti-jo1-positive-anti-synthetase-syndrome-results-from-a-multicenter-international-and-retrospective-study
#14
REVIEW
Elena Bartoloni, Miguel A Gonzalez-Gay, Carlo Scirè, Santos Castaneda, Roberto Gerli, Francisco Javier Lopez-Longo, Julia Martinez-Barrio, Marcello Govoni, Federica Furini, Trinitario Pina, Florenzo Iannone, Margherita Giannini, Laura Nuño, Luca Quartuccio, Norberto Ortego-Centeno, Alessia Alunno, Christopher Specker, Carlomaurizio Montecucco, Konstantinos Triantafyllias, Silvia Balduzzi, Walter Alberto Sifuentes-Giraldo, Giuseppe Paolazzi, Elena Bravi, Andreas Schwarting, Raffaele Pellerito, Alessandra Russo, Carlo Selmi, Lesley-Ann Saketkoo, Enrico Fusaro, Simone Parisi, Nicolò Pipitone, Franco Franceschini, Ilaria Cavazzana, Rossella Neri, Simone Barsotti, Veronica Codullo, Lorenzo Cavagna
OBJECTIVE: Arthritis, myositis and interstitial lung disease (ILD) constitute the classic clinical triad of anti-synthetase syndrome (ASSD). These patients experience other accompanying features, such as Raynaud's phenomenon, fever or mechanic's hands. Most ASSD patients develop the complete triad during the follow-up. In the present study we aimed to determine whether the subsequent appearance of accompanying features may suggest the development of triad findings lacking at the onset in anti-Jo1 positive ASSD patients...
March 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28092215/therapeutic-implications-from-the-pathogenesis-of-raynaud-s-phenomenon
#15
Ariane L Herrick
Raynaud's phenomenon (RP) can be either primary (idiopathic) or secondary to a number of different diseases/conditions, when vasopasm can be superimposed upon structural vascular abnormality or a hyperviscosity state and may then lead to severe ischaemia with tissue damage. Treatment must be tailored to the individual. Areas covered: This review discusses how increased understanding of the pathogenesis of RP has driven and is driving new approaches to therapy, and how we are now better able to predict which patients presenting with RP are likely to have an underlying disease requiring specific intervention...
February 3, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28089066/evaluation-and-prevention-of-the-negative-matrix-effect-of-terpenoids-on-pesticides-in-apples-quantification-by-gas-chromatography-tandem-mass-spectrometry
#16
Géraldine Giacinti, Christine Raynaud, Sophie Capblancq, Valérie Simon
The sample matrix can enhance the gas chromatography signal of pesticide residues relative to that obtained with the same concentration of pesticide in solvent. This paper is related to negative matrix effects observed in coupled gas chromatography-mass spectrometry ion trap (GC/MS(2)) quantification of pesticides in concentrated extracts of apple peel prepared by the Quick Easy Cheap Effective Rugged and Safe (QuEChERS) method. It is focused on the pesticides most frequently used on the apple varieties studied, throughout the crop cycle, right up to harvest, to combat pests and diseases and to improve fruit storage properties...
December 21, 2016: Journal of Chromatography. A
https://www.readbyqxmd.com/read/28069166/evaluation-and-prevention-of-the-negative-matrix-effect-of-terpenoids-on-pesticides-in-apples-quantification-by-gas-chromatography-tandem-mass-spectrometry
#17
Géraldine Giacinti, Christine Raynaud, Sophie Capblancq, Valérie Simon
The sample matrix can enhance the gas chromatography signal of pesticide residues relative to that obtained with the same concentration of pesticide in solvent. This paper is related to negative matrix effects observed in coupled gas chromatography-mass spectrometry ion trap (GC/MS(2)) quantification of pesticides in concentrated extracts of apple peel prepared by the Quick Easy Cheap Effective Rugged and Safe (QuEChERS) method. It is focused on the pesticides most frequently used on the apple varieties studied, throughout the crop cycle, right up to harvest, to combat pests and diseases and to improve fruit storage properties...
February 3, 2017: Journal of Chromatography. A
https://www.readbyqxmd.com/read/28065485/systemic-sclerosis-sine-scleroderma-in-mexican-patients-case-reports
#18
Olga Vera-Lastra, Christian Alexis Sauceda-Casas, María Del Pilar Cruz Domínguez, Sergio Alberto Mendoza Alvarez, Jesús Sepulceda-Delgado
Systemic sclerosis sine scleroderma (ssSSc) is a form of systemic sclerosis that is characterized by Raynaud's phenomenon (RP), visceral involvement without thickening of skin and anticentromere antibodies (ACA). We studied 10 ssSsc patients with a prevalence of 2%. The clinical signs were: RP 9/10, esophageal manifestations 8/10, pulmonary arterial hypertension 4/10, interstitial lung disease 4/10, cardiac signs 3/10 and ACA 8/10. CONCLUSION: In patients with RP, esophageal dysmotility, interstitial lung disease and pulmonary arterial hypertension should be tested for ACA in order to establish a prompt diagnosis and treatment of ssSSc...
January 3, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/28053878/microparticle-subpopulations-are-potential-markers-of-disease-progression-and-vascular-dysfunction-across-a-spectrum-of-connective-tissue-disease
#19
E M McCarthy, D Moreno-Martinez, F L Wilkinson, N J McHugh, I N Bruce, J D Pauling, M Y Alexander, B Parker
OBJECTIVE: Microparticles (MPs) are membrane-bound vesicles derived from vascular and intravascular cells such as endothelial cells (EMPs) and platelets (PMPs). We investigated EMP and PMP numbers across a spectrum of autoimmune rheumatic diseases (AIRDs) with the aim of comparing the levels of, and relationship between, EMPs and PMPs. METHODS: Patients with Systemic Lupus Erythematosus (SLE) (n = 24), Systemic Sclerosis (SSc) (n = 24), Primary Raynauds Phenomenon (RP) (n = 17) and "other CTD" (n = 15) (Primary Sjogrens Syndrome, UCTD or MCTD) as well as 15 healthy controls were recruited...
June 2017: BBA Clinical
https://www.readbyqxmd.com/read/28053559/systemic-lupus-erythematosus-and-pulmonary-arterial-hypertension-links-risks-and-management-strategies
#20
REVIEW
Konstantinos Tselios, Dafna D Gladman, Murray B Urowitz
Systemic lupus erythematosus (SLE) is characterized by the second highest prevalence of pulmonary arterial hypertension (PAH), after systemic sclerosis, among the connective tissue diseases. SLE-associated PAH is hemodynamically defined by increased mean pulmonary artery pressure at rest (≥25 mmHg) with normal pulmonary capillary wedge pressure (≤15 mmHg) and increased pulmonary vascular resistance. Estimated prevalence ranges from 0.5% to 17.5% depending on the diagnostic method used and the threshold of right ventricular systolic pressure in studies using transthoracic echocardiogram...
2017: Open Access Rheumatology: Research and Reviews
keyword
keyword
98236
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"