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systemic sclerosis guidelines

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https://www.readbyqxmd.com/read/28615037/high-sensitivity-and-negative-predictive-value-of-the%C3%A2-detect-algorithm-for-an-early-diagnosis-of-pulmonary-arterial-hypertension-in-systemic-sclerosis-application-in-a-single-center
#1
Alfredo Guillén-Del Castillo, Eduardo L Callejas-Moraga, Gabriela García, José F Rodríguez-Palomares, Antonio Román, Cristina Berastegui, Manuel López-Meseguer, Enric Domingo, Vicente Fonollosa-Plá, Carmen Pilar Simeón-Aznar
BACKGROUND: Pulmonary arterial hypertension (PAH) is one of the most relevant causes of death in systemic sclerosis. The aims of this study were to analyse the recently published DETECT algorithm comparing it with European Society of Cardiology/European Respiratory Society (ESC/ERS) 2009 guidelines: as screening of PAH; (2) identifying median pulmonary arterial pressure (mPAP) ≥21 mmHg; and (3) determining any group of pulmonary hypertension (PH). METHODS: Eighty-three patients fulfilling LeRoy's systemic sclerosis diagnostic criteria with at least right heart catheterization were studied retrospectively...
June 14, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28598975/vitamin-d-deficiency-and-clinical-correlations-in-systemic-sclerosis-patients-a-retrospective-analysis-for-possible-future-developments
#2
Amelia Chiara Trombetta, Vanessa Smith, Emanuele Gotelli, Massimo Ghio, Sabrina Paolino, Carmen Pizzorni, Amber Vanhaecke, Barbara Ruaro, Alberto Sulli, Maurizio Cutolo
OBJECTIVE: Assessment of serum 25-hydroxyvitamin D (25(OH)D) correlations with clinical parameters and evaluation of the efficacy of standard oral supplementation in systemic sclerosis (SSc) patients. METHODS: 154 SSc patients were recruited, in all seasons. Serum 25(OH)D concentrations were evaluated using LIAISON 25-OH (Diasorin, Italy). Medsger disease severity scale (DSS), nailfold videocapillaroscopy (NVC) and all instrumental exam contemplated by international guidelines were performed...
2017: PloS One
https://www.readbyqxmd.com/read/28530671/cardiopulmonary-assessment-of-patients-with-systemic-sclerosis-for-hematopoietic-stem-cell-transplantation-recommendations-from-the-european-society-for-blood-and-marrow-transplantation-autoimmune-diseases-working-party-and-collaborating-partners
#3
REVIEW
D Farge, R K Burt, M-C Oliveira, E Mousseaux, M Rovira, Z Marjanovic, J de Vries-Bouwstra, N Del Papa, R Saccardi, S J Shah, D C Lee, C Denton, T Alexander, D G Kiely, J A Snowden
Systemic sclerosis (SSc) is a rare disabling autoimmune disease with a similar mortality to many cancers. Two randomized controlled trials of autologous hematopoietic stem cell transplantation (AHSCT) for SSc have shown significant improvement in organ function, quality of life and long-term survival compared to standard therapy. However, transplant-related mortality (TRM) ranged from 3-10% in patients undergoing HSCT. In SSc, the main cause of non-transplant and TRM is cardiac related. We therefore updated the previously published guidelines for cardiac evaluation, which should be performed in dedicated centers with expertize in HSCT for SSc...
May 22, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28501823/cerebellar-atrophy-in-neurodegeneration-a-meta-analysis
#4
REVIEW
Helena M Gellersen, Christine C Guo, Claire O'Callaghan, Rachel H Tan, Saber Sami, Michael Hornberger
INTRODUCTION: The cerebellum has strong cortical and subcortical connectivity, but is rarely taken into account for clinical diagnosis in many neurodegenerative conditions, particularly in the absence of clinical ataxia. The current meta-analysis aims to assess patterns of cerebellar grey matter atrophy in seven neurodegenerative conditions (Alzheimer's disease (AD), Parkinson's disease (PD) and Huntington's disease (HD), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), multiple system atrophy (MSA), progressive supranuclear palsy (MSP))...
May 13, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28495691/screening-for-pulmonary-arterial-hypertension-in-an-unselected-prospective-systemic-sclerosis-cohort
#5
Els Vandecasteele, Benny Drieghe, Karin Melsens, Kristof Thevissen, Michel De Pauw, Ellen Deschepper, Saskia Decuman, Carolien Bonroy, Yves Piette, Filip De Keyser, Guy Brusselle, Vanessa Smith
Screening for pulmonary arterial hypertension (PAH) in systemic sclerosis (SSc) improves outcomes. The DETECT screening algorithm is recommended in a high-risk SSc subgroup. This study aims to compare prospectively the positive predictive value of screening using the DETECT algorithm and the 2009 European Society of Cardiology/European Respiratory Society (ESC/ERS) guidelines, and to compare their cost-effectiveness in an unselected, day-to-day SSc population. Post hoc, screening according to the 2015 ESC/ERS guidelines using echocardiographic parameters alone ("2015 echo screening") or combined with the DETECT algorithm ("2015 combined screening") in high-risk subjects was analysed...
May 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28417345/imaging-markers-for-monitoring-disease-activity-in-multiple-sclerosis
#6
REVIEW
Suradech Suthiphosuwan, David Kim, Aditya Bharatha, Jiwon Oh
Multiple sclerosis (MS) is an immune-mediated disease affecting the central nervous system (CNS). Magnetic resonance imaging (MRI) has long been recognized as an important tool in the diagnosis of MS. It is increasingly recognized that in addition to its role in diagnosis, MRI can play a key role as a noninvasive tool for prognostication, disease monitoring, assessment of treatment efficacy, and safety monitoring of disease-modifying therapies (DMTs). A confluence of factors, including increased availability of MRI, development of improved MRI techniques, and increased availability of DMTs have contributed to the expanding role of MRI in MS clinical care...
May 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28414398/tuberous-sclerosis-complex-a-review
#7
Stephanie Carapetian Randle
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can present at any age and can affect multiple organ systems. This disorder is usually identified in infants and children based on characteristic skin lesions, seizures, and cellular overgrowth or hamartomas in the heart, brain, and kidneys. Tuberous sclerosis complex is a genetic disorder caused by a mutation in either the TSC1 or TSC2 gene leading to dysfunction of hamartin or tuberin, respectively. Hamartin and tuberin form a protein complex that helps regulate cellular hyperplasia...
April 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28390010/vitamin-d-supplementation-in-the-prevention-and-management-of-major-chronic-diseases-not-related-to-mineral-homeostasis-in-adults-research-for-evidence-and-a-scientific-statement-from-the-european-society-for-clinical-and-economic-aspects-of-osteoporosis-and
#8
Luisella Cianferotti, Francesco Bertoldo, Heike A Bischoff-Ferrari, Olivier Bruyere, Cyrus Cooper, Maurizio Cutolo, John A Kanis, Jean-Marc Kaufman, Jean-Yves Reginster, Rene Rizzoli, Maria Luisa Brandi
INTRODUCTION: Optimal vitamin D status promotes skeletal health and is recommended with specific treatment in individuals at high risk for fragility fractures. A growing body of literature has provided indirect and some direct evidence for possible extraskeletal vitamin D-related effects. PURPOSE AND METHODS: Members of the European Society for Clinical and Economic Aspects of Osteoporosis and Osteoarthritis have reviewed the main evidence for possible proven benefits of vitamin D supplementation in adults at risk of or with overt chronic extra-skeletal diseases, providing recommendations and guidelines for future studies in this field...
April 7, 2017: Endocrine
https://www.readbyqxmd.com/read/28351834/cutaneous-manifestations-of-tuberous-sclerosis-complex-and-the-paediatrician-s-role
#9
REVIEW
Michael A Cardis, Cynthia Marie Carver DeKlotz
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder stemming from unregulated activation of the mammalian target of rapamycin (mTOR) pathway, resulting in the growth of hamartomas in multiple organs. TSC-related skin lesions often develop early in life and can be disfiguring, emotionally distressful and even painful at times. Recognition of TSC-associated skin features by paediatricians can be a catalyst for facilitating early implementation of treatment strategies and establishing appropriate follow-up care...
March 28, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28303689/non-healing-ischaemic-digital-ulcer-in-a-systemic-sclerosis-patient-a-challenging-clinical-case
#10
Sophie Blaise, Matthieu Roustit, Alexandra Forli, Bernard Imbert, Jean-Luc Cracowski
Ischaemic digital ulcers (DUs) are an indicator of the severity of the microangiopathy in patients with systemic sclerosis (SSc). DUs are a frequent complication, affecting about 50% of patients with SSc, and are often recurrent. In cross-sectional studies involving patients with SSc, the frequency of ischaemic DUs was 12-16% with a major impact on hand function and quality of life. Effective therapy for DUs remains elusive. Intravenous iloprost has been demonstrated to have a positive effect on healing of active DUs...
March 16, 2017: International Wound Journal
https://www.readbyqxmd.com/read/28302901/treatment-of-renal-angiomyolipoma-and-other-hamartomas-in-patients-with-tuberous-sclerosis-complex
#11
REVIEW
Joshua A Samuels
Tuberous sclerosis complex is an autosomal dominant genetic disease characterized by growth of benign tumors (hamartomas) in multiple organs, especially the kidneys, brain, heart, lungs, and skin. Tuberous sclerosis complex is usually caused by a mutation in either the tuberous sclerosis complex 1 or tuberous sclerosis complex 2 gene, resulting in constitutive activation of mammalian target of rapamycin signaling. Currently, mammalian target of rapamycin inhibitors are recommended in adult patients with tuberous sclerosis complex for the treatment of asymptomatic, growing renal angiomyolipoma that are >3 cm in diameter and pediatric or adult patients with brain lesions (subependymal giant cell astrocytoma) that either are growing or are not amenable to surgical resection...
March 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28270230/risk-factors-for-the-development-of-autism-spectrum-disorder-in-children-with-tuberous-sclerosis-complex-protocol-for-a-systematic-review
#12
Rebecca Mitchell, Sarah Barton, A Simon Harvey, Katrina Williams
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition, caused by mutations in either the TSC1 or TSC2 gene. It has widespread systemic manifestations and is associated with significant neurological morbidity. In addition to seizures and cerebral pathology including cortical tubers, subependymal nodules, subependymal giant cell astrocytoma and abnormal white matter, there are recognised neuropsychiatric difficulties including intellectual disability, autism spectrum disorder (ASD) and a range of learning and behaviour problems, recently conceptualised as "tuberous sclerosis-associated neuropsychiatric disorders", or "TAND"...
March 8, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28270192/epidemiology-and-disease-characteristics-of-systemic-sclerosis-related-pulmonary-arterial-hypertension-results-from-a-real-life-screening-programme
#13
Kathleen Morrisroe, Wendy Stevens, Joanne Sahhar, Candice Rabusa, Mandana Nikpour, Susanna Proudman
BACKGROUND: Pulmonary arterial hypertension (PAH) is the leading cause of death in systemic sclerosis (SSc). Annual screening with echocardiogram (ECHO) is recommended. We present the methodological aspects of a PAH screening programme in a large Australian SSc cohort, the epidemiology of SSc-PAH in this cohort, and an evaluation of factors influencing physician adherence to PAH screening guidelines. METHODS: Patient characteristics and results of PAH screening were determined in all patients enrolled in a SSc longitudinal cohort study...
March 7, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28261918/methotrexate-induced-pancytopenia-a-case-series-of-46-patients
#14
Sajal Ajmani, Yogesh Preet Singh, Shiva Prasad, Abhra Chowdhury, Amita Aggarwal, Able Lawrence, Ramnath Misra, Richa Mishra, Vikas Agarwal
AIM: Methotrexate (MTX) has the potential to cause serious adverse reactions and even mortality. We analyzed the predisposing factors and outcome in patients with MTX-induced pancytopenia admitted into our unit from 1996 to 2015. METHODS: Patients were identified by departmental database search. Pancytopenia was defined as white blood cell count (WBC) < 3500 cells/mm(3) , hemoglobin (Hb) < 11 g/dL and platelet count < 150 000 cells/mm(3) . Severe pancytopenia was defined as WBC < 2000 cells/mm(3) , Hb < 10 g/dL and platelet count < 50 000 cells/mm(3) ...
March 5, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28252608/-clinical-guidelines-for-the-use-of-dimethyl-fumarate-in-relapsing-remitting-multiple-sclerosis
#15
V M Alifirova, A N Boiko, Ya V Vlasov, M V Davydovskaya, M N Zakharova, N A Malkova, E V Popova, S A Sivertseva, N N Spirin, N V Khachanova, Т Е Shmidt
Multiple sclerosis is a chronic demyelinating and neurodegenerative disease of the central nervous system, in which autoimmune inflammation and oxidative stress play essential pathogenetic roles. Activation and infiltration of immune cells in brain tissues, lipid peroxidation products, mitochondrial dysfunction, defective antioxidant protection, and many other pathological factors result in demyelination, axonal injury and death, and apoptosis of oligodendrocytes and neurons, all of which causes constant progression of the disease...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28205373/pulmonary-hypertension-in-connective-tissue-diseases-an-update
#16
REVIEW
Ramya Aithala, Anoop G Alex, Debashish Danda
Pulmonary hypertension (PH) is a relatively commoner complication of systemic sclerosis (SSc) with estimated prevalence ranging between 8% and 12% as compared to much lower figures in other connective tissue diseases (CTD). It is a major cause of morbidity and mortality in CTDs. PH is classified into five major groups. CTD-associated PH belongs to group 1 PH, also known as pulmonary arterial hypertension (PAH). Around 30% of scleroderma-related deaths are due to PAH. Underlying pathogenesis is related to pulmonary vasculopathy involving small vessels...
January 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28093711/clinical-neurophysiology-of-multiple-sclerosis
#17
Mario Habek, Ivan Adamec, Barbara Barun, Luka Crnošija, Tereza Gabelić, Magdalena Krbot Skorić
Different neurophysiological methods such as evoked potentials (EP), testing of the autonomic nervous system (ANS) or polysomnography have the potential to detect clinically silent lesions or to confirm the existence of an association between a clinical symptom and multiple sclerosis (MS); previously undetected by MRI. Therefore, in the most recent MRI criteria for the diagnosis of MS (MAGNIMS consensus guidelines), neurophysiological confirmation of optic nerve dysfunction (slowed conduction on visual EP), support dissemination in space and, in patients without concurrent visual symptoms, dissemination in time...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28089973/malignancies-in-patients-with-anti-rna-polymerase-iii-antibodies-and-systemic-sclerosis-analysis-of-the-eular-scleroderma-trials-and-research-cohort-and-possible-recommendations-for-screening
#18
Maria-Grazia Lazzaroni, Ilaria Cavazzana, Enrico Colombo, Rucsandra Dobrota, Jasmin Hernandez, Roger Hesselstrand, Cecilia Varju, Gabriella Nagy, Vanessa Smith, Paola Caramaschi, Valeria Riccieri, Eric Hachulla, Alexandra Balbir-Gurman, Emmanuel Chatelus, Katarzyna Romanowska-Próchnicka, Ana Carolina Araújo, Oliver Distler, Yannick Allanore, Paolo Airò
OBJECTIVE: To analyze the characteristics of anti-RNA polymerase III antibodies (anti-RNAP3)- positive patients with systemic sclerosis (SSc) in the European League Against Rheumatism Scleroderma Trials and Research group (EUSTAR) registry with a focus on the risk of cancer and the characteristics of malignancies, and the aim to provide guidelines about potential cancer screening in these patients. METHODS: (1) Analysis of the EUSTAR database: 4986 patients with information on their anti-RNAP3 status were included...
May 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28088339/evidence-based-management-of-systemic-sclerosis-navigating-recommendations-and-guidelines
#19
REVIEW
Russell Edward Pellar, Janet Elizabeth Pope
OBJECTIVES: Systemic sclerosis (SSc) is a rare heterogeneous connective tissue disease. Recommendations addressing the major issues in the management of SSc including screening and treatment of organ complications are needed. METHODS: The updated European League Against Rheumatism/European Scleroderma Trial and Research (EULAR/EUSTAR) and the British Society of Rheumatology (BSR) and British Health Professionals in Rheumatology (BHPR) guidelines were compared and contrasted...
June 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28069095/deficits-in-social-cognition-an-unveiled-signature-of-multiple-sclerosis
#20
Moussa A Chalah, Samar S Ayache
BACKGROUND AND OBJECTIVES: Multiple sclerosis (MS) is a chronic progressive inflammatory disease of the central nervous system, representing the primary cause of non-traumatic disability in young adults. Cognitive dysfunction can affect patients at any time during the disease process and might alter the six core functional domains. Social cognition is a multi-component construct that includes the theory of mind, empathy and social perception of emotions from facial, bodily and vocal cues...
January 10, 2017: Journal of the International Neuropsychological Society: JINS
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