keyword
MENU ▼
Read by QxMD icon Read
search

Raynauds

keyword
https://www.readbyqxmd.com/read/28811188/familial-1p36-3-microduplication-resulting-from-a-1p-9q-non-reciprocal-translocation
#1
Valentine Marquet, Sylvie Bourthoumieu, Amelia Dobrescu, Cécile Laroche-Raynaud, Catherine Yardin
Unlike the 1p36 microdeletion syndrome, which has been extensively described, 1p36 microduplications have rarely been reported. We describe a three years old boy presenting with a severe global developmental delay and a few dysmorphic features. Cytogenetic analyses revealed a maternally inherited 3.35 Mb microduplication of chromosomal band 1p36.3. The maternal grand-father is also carrier of the same chromosomal rearrangement. Interestingly, the duplicated 1p36.3 segment was found to be localized at the telomeric end of the long arms of a chromosome 9, probably deriving from a 1p36...
August 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28807722/coronary-microvascular-dysfunction-is-not-associated-with-a-history-of-reproductive-risk-factors-in-women-with-angina-pectoris-an-ipower-substudy
#2
Hannah Elena Suhrs, Anna Meta Kristensen, Anna Bay Rask, Marie Mide Michelsen, Daria Frestad, Naja Dam Mygind, Kira Bové, Eva Prescott
BACKGROUND: Reproductive risk factors such as preeclampsia and recurrent miscarriages have been associated with adverse cardiovascular (CV) events. Underlying coronary microvascular dysfunction (CMD) may be a common denominator. PURPOSE: We investigated whether a history of reproductive risk factors was associated with CMD in women with angina pectoris and no obstructive coronary artery disease (CAD). METHODS: Participants from the iPOWER study, including women with angina pectoris and no obstructive CAD (<50% stenosis), were invited to complete an electronic survey regarding reproductive risk factors: recurrent miscarriages, gestational diabetes, preeclampsia, rhesus immunity, polycystic ovary syndrome and menopausal status as well as migraine and Raynaud phenomenon...
August 11, 2017: Maturitas
https://www.readbyqxmd.com/read/28803485/raynaud-s-phenomenon-and-its-impact-on-activities-in-daily-life-during-one-year-of-follow-up-in-early-systemic-sclerosis
#3
G Sandqvist, P Wollmer, A Scheja, M Wildt, R Hesselstrand
OBJECTIVE: To investigate Raynaud's phenomenon (RP) and its impact on daily life activities during 1 year of follow-up in early systemic sclerosis (SSc). METHOD: Fourteen SSc patients with a median disease duration of 2 years were enrolled in the study. Every 7 weeks the patients completed a 7 day diary documenting the frequency and duration of RP attacks, the activity causing the attack, and how they handled the attack. The patients also recorded in the diary daily self-assessments of the difficulties with RP, using a 0-10 ordinal scale according to the Raynaud's Condition Score...
August 13, 2017: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/28796005/clinical-spectrum-of-anti-jo-1-associated-disease
#4
Sara Monti, Carlomaurizio Montecucco, Lorenzo Cavagna
PURPOSE OF REVIEW: To provide the most recent evidence on anti-Jo-1 syndrome. RECENT FINDINGS: Several new evidences on anti-Jo-1 syndrome have recently emerged. It has been clearly established that, at disease onset, the classic clinical triad (arthritis, myositis and interstitial lung disease - ILD) is only rarely observed. Indeed, disease onset with an isolated arthritis is common. Patients presenting with an isolated manifestation are at high risk for the subsequent occurrence of initially lacking triad findings...
August 8, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28794554/mucocutaneous-manifestations-in-patients-with-rheumatoid-arthritis-a-cross-sectional-study-from-eastern-india
#5
Sudip Kumar Ghosh, Debabrata Bandyopadhyay, Surajit Kumar Biswas, Ivoreen Darung
BACKGROUND: Cutaneous manifestations are fairly common in rheumatoid arthritis (RA) and they can help in early diagnosis, prompt treatment, and hence reduced morbidity from the disease. AIMS: The objective of the present study was to find out the different patterns of dermatoses in a group of patients with RA from Eastern India. METHODOLOGY: Consecutive patients fulfilling the American Rheumatism Association 1987 revised criteria for the classification of RA and who had different dermatoses were included in this cross-sectional study done over a period of 8 years in a tertiary care hospital in Eastern India...
July 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28780758/investigation-of-metabolites-for-estimating-blood-deposition-time
#6
Karolina Lech, Fan Liu, Sarah K Davies, Katrin Ackermann, Joo Ern Ang, Benita Middleton, Victoria L Revell, Florence J Raynaud, Igor Hoveijn, Roelof A Hut, Debra J Skene, Manfred Kayser
Trace deposition timing reflects a novel concept in forensic molecular biology involving the use of rhythmic biomarkers for estimating the time within a 24-h day/night cycle a human biological sample was left at the crime scene, which in principle allows verifying a sample donor's alibi. Previously, we introduced two circadian hormones for trace deposition timing and recently demonstrated that messenger RNA (mRNA) biomarkers significantly improve time prediction accuracy. Here, we investigate the suitability of metabolites measured using a targeted metabolomics approach, for trace deposition timing...
August 5, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28780561/behaviour-change-interventions-for-the-management-of-raynaud-s-phenomenon-a-systematic-review-protocol
#7
Jo Daniels, John D Pauling, Christopher Eccelston
INTRODUCTION: Raynaud's phenomenon (RP) describes excessive peripheral vasospasm to cold exposure and/or emotional stress. RP episodes are associated with digital colour changes, pain and reduced quality of life. Pharmacological interventions are of low to moderate efficacy and often result in adverse effects such as facial flushing and headaches. Recommended lifestyle and behavioural interventions have not been evaluated. The objectives of the proposed systematic review are to assess the comparative safety and efficacy of behaviour change interventions for RP and identify what we can learn to inform future interventions...
August 4, 2017: BMJ Open
https://www.readbyqxmd.com/read/28777521/blue-fingered-diver-case-report
#8
Rebecca Cable, Lindell K Weaver, Anne B Roberts, Greg Goodman, Kayla Deru
Although Raynaud's phenomenon is a well-known consequence of exposure to cold, neither its incidence in recreational divers nor case reports in that population have been reported in the medical literature. We present a case report of the initial manifestation of primary Raynaud's phenomenon during a warm-water scuba dive. A healthy 18-year-old Caucasian male made four open-circuit compressed air scuba dives over two days in the Florida Keys to a maximum depth of 90 feet. After two of those dives, he noted painless, blue discoloration on three digits of his left hand, unaccompanied by sensory changes, which resolved within an hour of surfacing...
November 2016: Undersea & Hyperbaric Medicine: Journal of the Undersea and Hyperbaric Medical Society, Inc
https://www.readbyqxmd.com/read/28776018/metathesis-activity-encoded-in-the-metallacyclobutane-carbon-13-nmr-chemical-shift-tensors
#9
Christopher P Gordon, Keishi Yamamoto, Wei-Chih Liao, Florian Allouche, Richard A Andersen, Christophe Copéret, Christophe Raynaud, Odile Eisenstein
Metallacyclobutanes are an important class of organometallic intermediates, due to their role in olefin metathesis. They can have either planar or puckered rings associated with characteristic chemical and physical properties. Metathesis active metallacyclobutanes have short M-Cα/α' and M···Cβ distances, long Cα/α'-Cβ bond length, and isotropic (13)C chemical shifts for both early d(0) and late d(4) transition metal compounds for the α- and β-carbons appearing at ca. 100 and 0 ppm, respectively. Metallacyclobutanes that do not show metathesis activity have (13)C chemical shifts of the α- and β-carbons at typically 40 and 30 ppm, respectively, for d(0) systems, with upfield shifts to ca...
July 26, 2017: ACS Central Science
https://www.readbyqxmd.com/read/28770709/timing-of-onset-affects-arthritis-presentation-pattern-in-antisyntethase-syndrome
#10
Miguel A González-Gay, Carlomaurizio Montecucco, Albert Selva-O'Callaghan, Ernesto Trallero-Araguas, Ovynd Molberg, Helena Andersson, Jorge Rojas-Serrano, Diana Isabel Perez-Roman, Jutta Bauhammer, Christoph Fiehn, Rossella Neri, Simone Barsotti, Hannes M Lorenz, Andrea Doria, Anna Ghirardello, Florenzo Iannone, Margherita Giannini, Franco Franceschini, Ilaria Cavazzana, Konstantinos Triantafyllias, Maurizio Benucci, Maria Infantino, Mariangela Manfredi, Fabrizio Conti, Andreas Schwarting, Giandomenico Sebastiani, Annamaria Iuliano, Giacomo Emmi, Elena Silvestri, Marcello Govoni, Carlo Alberto Scirè, Federica Furini, Francisco Javier Lopez-Longo, Julia Martínez-Barrio, Marco Sebastiani, Andreina Manfredi, Javier Bachiller-Corral, Walter Alberto Sifuentes Giraldo, Marco A Cimmino, Claudio Cosso, Alessandro Belotti Masserini, Giovanni Cagnotto, Veronica Codullo, Mariaeva Romano, Giuseppe Paolazzi, Raffaele Pellerito, Lesley Ann Saketkoo, Norberto Ortego-Centeno, Luca Quartuccio, Alberto Batticciotto, Elena Bartoloni Bocci, Roberto Gerli, Christof Specker, Elena Bravi, Carlo Selmi, Simone Parisi, Fausto Salaffi, Federica Meloni, Enrico Marchioni, Alberto Pesci, Giulia Dei, Marco Confalonieri, Paola Tomietto, Laura Nuno, Francesco Bonella, Nicolò Pipitone, Antonio Mera-Valera, Nair Perez-Gomez, Simone Gerzeli, Raquel Lopez-Mejias, Carlo Jorge Matos-Costa, Jose Antonio Pereira da Silva, José Cifrian, Claudia Alpini, Ignazio Olivieri, María Ángeles Blázquez Cañamero, Ana Belén Rodriguez Cambrón, Santos Castañeda, Lorenzo Cavagna
OBJECTIVES: To evaluate if the timing of appearance with respect to disease onset may influence the arthritis presentation pattern in antisynthetase syndrome (ASSD). METHODS: The patients were selected from a retrospective large international cohort of ASSD patients regularly followed-up in centres referring to AENEAS collaborative group. Patients were eligible if they had an antisynthetase antibody testing positive in at least two determinations along with arthritis occurring either at ASSD onset (Group 1) or during the course of the disease (Group 2)...
July 26, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28770006/categorisation-of-foot-complaints-in-systemic-lupus-erythematosus-sle-from-a-new-zealand-cohort
#11
Simon J Otter, Maheswaran Rohan, Kevin A Davies, Sunil Kumar, Peter Gow, Nicola Dalbeth, Michael Corkill, Sam Panthakalam, Keith Rome
BACKGROUND: Foot complaints have been shown to be common in systemic lupus erythematosus (SLE) and heterogeneous in nature. We aimed to categorize self-reported foot complaints in people with SLE and foot symptoms. METHODS: A self-administered validated questionnaire was posted to 406 people with SLE attending adult rheumatology clinics across three health boards in Auckland, New Zealand. In addition to foot pain, vascular complaints, dermatological lesions and neurological symptoms were included in the analysis...
2017: Journal of Foot and Ankle Research
https://www.readbyqxmd.com/read/28761239/sequential-autologous-hematopoietic-stem-cell-transplant-followed-by-renal-transplant-in-multiple-myeloma
#12
D Bhowmik, S Yadav, L Kumar, S Agarwal, S K Agarwal, S Gupta
A 30-year-old female was symptomatic with headache, fatigue, and weakness since October 2011 and was told to have anemia. In January 2012, she was admitted outside with pulmonary edema. Investigations revealed advanced azotemia, anemia, and hypercalcemia. Urine showed 2 + proteins and 30-35 red blood cells. There was no history of oral ulcers, rash, Raynaud's phenomenon, or hemoptysis. She was evaluated for causes of rapidly progressive "renal failure." Hemolytic work-up; antinuclear antibody, double-stranded DNA, and anti-neutrophil cytoplasmic antibody were negative...
July 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28761166/anti-centromere-antibody-exhibits-specific-distribution-levels-among-anti-nuclear-antibodies-and-may-characterize-a-distinct-subset-in-rheumatoid-arthritis
#13
Nobuo Kuramoto, Koichiro Ohmura, Katsunori Ikari, Koichiro Yano, Moritoshi Furu, Noriyuki Yamakawa, Motomu Hashimoto, Hiromu Ito, Takao Fujii, Kosaku Murakami, Ran Nakashima, Yoshitaka Imura, Naoichiro Yukawa, Hajime Yoshifuji, Atsuo Taniguchi, Shigeki Momohara, Hisashi Yamanaka, Fumihiko Matsuda, Tsuneyo Mimori, Chikashi Terao
Anti-centromere antibody (ACA) is one of the classical anti-nuclear antibody (ANA) staining patterns. However, characteristics of ACA in comparison with the other ANA patterns and clinical features of ACA-positive subjects have not been elucidated. Here, we examined all ANA patterns by indirect immunofluorescence for 859 rheumatoid arthritis (RA) patients. Together with the ANA data of 9,575 healthy volunteers, we compared distributions of the ANA levels. ACA was the only ANA that demonstrated a definite bimodal distribution of levels...
July 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28756993/conditional-selection-of-genomic-alterations-dictates-cancer-evolution-and-oncogenic-dependencies
#14
Marco Mina, Franck Raynaud, Daniele Tavernari, Elena Battistello, Stephanie Sungalee, Sadegh Saghafinia, Titouan Laessle, Francisco Sanchez-Vega, Nikolaus Schultz, Elisa Oricchio, Giovanni Ciriello
Cancer evolves through the emergence and selection of molecular alterations. Cancer genome profiling has revealed that specific events are more or less likely to be co-selected, suggesting that the selection of one event depends on the others. However, the nature of these evolutionary dependencies and their impact remain unclear. Here, we designed SELECT, an algorithmic approach to systematically identify evolutionary dependencies from alteration patterns. By analyzing 6,456 genomes from multiple tumor types, we constructed a map of oncogenic dependencies associated with cellular pathways, transcriptional readouts, and therapeutic response...
August 14, 2017: Cancer Cell
https://www.readbyqxmd.com/read/28756734/adapting-services-to-the-needs-of-children-and-families-with-complex-migration-experiences-the-toulouse-university-hospital-s%C3%A2-intercultural%C3%A2-consultation
#15
Gesine Sturm, Zohra Guerraoui, Sylvie Bonnet, Françoise Gouzvinski, Jean-Philippe Raynaud
This article presents the recently created intercultural consultation at the Medical and Psychological Health Care Service (CMP) of the University Hospital la Grave at Toulouse. The approach of the intercultural consultation was elaborated in response to the increasing diversity of children and families using the service in Toulouse. It is also based on local research that indicates the difficulties service providers encounter when trying to establish a solid therapeutic alliance with families with complex migration backgrounds who accumulate different disadvantaging factors...
January 1, 2017: Transcultural Psychiatry
https://www.readbyqxmd.com/read/28752373/skin-manifestations-of-rheumatoid-arthritis-juvenile-idiopathic-arthritis-and-spondyloarthritides
#16
REVIEW
Carolyn Jean Chua-Aguilera, Burkhard Möller, Nikhil Yawalkar
Extra-articular manifestations of rheumatoid arthritis, juvenile idiopathic arthritis, and various spondyloarthritides including psoriatic arthritis, ankylosing spondylitis, reactive arthritis, and inflammatory bowel disease-associated spondyloarthritis often involve the skin and may occur before or after diagnosis of these rheumatic diseases. Cutaneous manifestations encompass a wide range of reactions that may have a notable negative impact not only on the physical but especially on the emotional and psychosocial well-being of these patients...
July 27, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28749191/disease-related-autoantibody-profile-in-patients-with-systemic-sclerosis
#17
Christos Liaskos, Emmanouela Marou, Theodora Simopoulou, Maria Barmakoudi, Georgios Efthymiou, Thomas Scheper, Wolfgang Meyer, Dimitrios P Bogdanos, Lazaros I Sakkas
BACKGROUND: Autoantibodies (autoAbs) help in diagnosis and predicting clinical phenotypes in systemic sclerosis (SSc). AIM OF THE STUDY: To determine the clinical utility of 13 SSc-related autoAbs in SSc patients. MATERIAL AND METHODS: A total of 131 consecutive patients with SSc (111 female, mean age 58.1 ± 14 years; 49 with diffused cutaneous SSc [dcSSc] and 82 with limited cutaneous SSc [lcSSc]) were analysed by a multiplex line immunoassay (Euroimmun) for autoantibodies (autoAbs) against 13 SSc-related antigens...
July 27, 2017: Autoimmunity
https://www.readbyqxmd.com/read/28722530/are-there-risk-factors-for-scleroderma-related-calcinosis
#18
Sneha Pai, Vivien Hsu
OBJECTIVES: Pathogenesis and risk factors of scleroderma associated calcinosis is poorly understood and there is no effective treatment. This study was performed to better understand the prevalence and clinical features associated with calcinosis in a cohort of SSc outpatients. METHODS: In this cross-sectional study, we compared clinical characteristics of SSc patients with (SSc-calcinosis) and without calcinosis (SSc-control) seen in the outpatient Rutgers-RWJ Scleroderma Program between 2012 and 2015...
July 19, 2017: Modern Rheumatology
https://www.readbyqxmd.com/read/28712039/cutaneous-manifestations-of-scleroderma-and-scleroderma-like-disorders-a-comprehensive-review
#19
REVIEW
Caterina Ferreli, Giulia Gasparini, Aurora Parodi, Emanuele Cozzani, Franco Rongioletti, Laura Atzori
Scleroderma refers to an autoimmune connective tissue fibrosing disease, including three different subsets: localized scleroderma, limited cutaneous systemic sclerosis, and diffuse cutaneous systemic sclerosis with divergent patterns of organ involvement, autoantibody profiles, management, and prognostic implications. Although systemic sclerosis is considered the disease prototype that causes cutaneous sclerosis, there are many other conditions that can mimic and be confused with SSc. They can be classified into immune-mediated/inflammatory, immune-mediated/inflammatory with abnormal deposit (mucinoses), genetic, drug-induced and toxic, metabolic, panniculitis/vascular, and (para)neoplastic disorders according to clinico-pathological and pathogenetic correlations...
July 16, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28705597/-systemic-sclerosis-and-occupational-difficulties-results-of-a-prospective-study
#20
N Peres, S Morell-Dubois, E Hachulla, P Y Hatron, A Duhamel, D Godard, A S Tellart-Mamert, M Lambert, D Launay, S Fantoni-Quinton
Between 9000 and 14000 people have systemic sclerosis (ScS) in France. The work is often affected. Our study aims to assess the frequency of professional difficulties (DP) of scleroderma patients, identify these DP, the symptoms involved and the solutions used. A heteroquestionnaire was offered to scleroderma patients the Lille University Hospital. Data were cross-checked with the clinical database of the National Observatory of scleroderma patients. We used 104 questionnaires of which 84% are women. A total of 62...
July 10, 2017: La Revue de Médecine Interne
keyword
keyword
26493
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"