Database : MEDLINE
Search on : Sarcoidosis [Words]
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[PMID]: 29515731
[Au] Autor:El Euch M; Mahfoudhi M; Skouri W; Hamida FB; Jaziri F; Abdelghani KB; Turki S; Abdallah TB
[Ad] Address:Service de Médecine Interne «A¼ Hôpital Charles Nicolle, Tunis, Tunisie.
[Ti] Title:Pseudotumeur cérébrale révélant une sarcoïdose. [Pseudotumor cerebri revealing sarcoidosis].
[So] Source:Pan Afr Med J;28:113, 2017.
[Is] ISSN:1937-8688
[Cp] Country of publication:Uganda
[La] Language:fre
[Ab] Abstract:Sarcoidosis is a multivisceral granulomatosis of unknown aetiology which may have various clinical and radiological manifestations. Cerebral sarcoidosis, although rare, can appears as a misleading pseudotumor. We report the case of a young Tunisian adult hospitalized for intracranial hypertension associated with pseudotumoral lesion on radiology, which was revealed to be systemic sarcoidosis.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Process
[do] DOI:10.11604/pamj.2017.28.113.10471

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[PMID]: 29510755
[Au] Autor:Calender A; Rollat Farnier PA; Buisson A; Pinson S; Bentaher A; Lebecque S; Corvol H; Abou Taam R; Houdouin V; Bardel C; Roy P; Devouassoux G; Cottin V; Seve P; Bernaudin JF; Lim CX; Weichhart T; Valeyre D; Pacheco Y; Clement A; Nathan N; in the frame of GSF (Groupe Sarcoïdose France)
[Ad] Address:Genetics Department, Hospices Civils de LYON (HCL), University Hospital, East Pathology Center, LYON, B-A3, 59 Bld Pinel, 69677, BRON Cedex, France. alain.calender@chu-lyon.fr.
[Ti] Title:Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
[So] Source:BMC Med Genomics;11(1):23, 2018 Mar 06.
[Is] ISSN:1755-8794
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Sarcoidosis (OMIM 181000) is a multi-systemic granulomatous disorder of unknown origin. Despite multiple genome-wide association (GWAS) studies, no major pathogenic pathways have been identified to date. To find out relevant sarcoidosis predisposing genes, we searched for de novo and recessive mutations in 3 young probands with sarcoidosis and their healthy parents using a whole-exome sequencing (WES) methodology. METHODS: From the SARCFAM project based on a national network collecting familial cases of sarcoidosis, we selected three families (trios) in which a child, despite healthy parents, develop the disease before age 15 yr. Each trio was genotyped by WES (Illumina HiSEQ 2500) and we selected the gene variants segregating as 1) new mutations only occurring in affected children and 2) as recessive traits transmitted from each parents. The identified coding variants were compared between the three families. Allelic frequencies and in silico functional results were analyzed using ExAC, SIFT and Polyphenv2 databases. The clinical and genetic studies were registered by the ClinicalTrials.gov - Protocol Registration and Results System (PRS) ( https://clinicaltrials.gov ) receipt under the reference NCT02829853 and has been approved by the ethical committee (CPP LYON SUD EST - 2 - REF IRB 00009118 - September 21, 2016). RESULTS: We identified 37 genes sharing coding variants occurring either as recessive mutations in at least 2 trios or de novo mutations in one of the three affected children. The genes were classified according to their potential roles in immunity related pathways: 9 to autophagy and intracellular trafficking, 6 to G-proteins regulation, 4 to T-cell activation, 4 to cell cycle and immune synapse, 2 to innate immunity. Ten of the 37 genes were studied in a bibliographic way to evaluate the functional link with sarcoidosis. CONCLUSIONS: Whole exome analysis of case-parent trios is useful for the identification of genes predisposing to complex genetic diseases as sarcoidosis. Our data identified 37 genes that could be putatively linked to a pediatric form of sarcoidosis in three trios. Our in-depth focus on 10 of these 37 genes may suggest that the formation of the characteristic lesion in sarcoidosis, granuloma, results from combined deficits in autophagy and intracellular trafficking (ex: Sec16A, AP5B1 and RREB1), G-proteins regulation (ex: OBSCN, CTTND2 and DNAH11), T-cell activation (ex: IDO2, IGSF3), mitosis and/or immune synapse (ex: SPICE1 and KNL1). The significance of these findings needs to be confirmed by functional tests on selected gene variants.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[Cl] Clinical Trial:ClinicalTrial
[St] Status:In-Data-Review
[do] DOI:10.1186/s12920-018-0338-x

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[PMID]: 29524169
[Au] Autor:Krumm P; Mangold S; Gatidis S; Nikolaou K; Nensa F; Bamberg F; la Fougère C
[Ad] Address:Department of Radiology, Diagnostic and Interventional Radiology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany. patrick.krumm@uni-tuebingen.de.
[Ti] Title:Clinical use of cardiac PET/MRI: current state-of-the-art and potential future applications.
[So] Source:Jpn J Radiol;, 2018 Mar 10.
[Is] ISSN:1867-108X
[Cp] Country of publication:Japan
[La] Language:eng
[Ab] Abstract:Combined PET/MRI is a novel imaging method integrating the advances of functional and morphological MR imaging with PET applications that include assessment of myocardial viability, perfusion, metabolism of inflammatory tissue and tumors, as well as amyloid deposition imaging. As such, PET/MRI is a promising tool to detect and characterize ischemic and non-ischemic cardiomyopathies. To date, the greatest benefit may be expected for diagnostic evaluation of systemic diseases and cardiac masses that remain unclear in cardiac MRI, as well as for clinical and scientific studies in the setting of ischemic cardiomyopathies. Diagnosis and therapeutic monitoring of cardiac sarcoidosis has the potential of a possible 'killer-application' for combined cardiac PET/MRI. In this article, we review the current evidence and discuss current and potential future applications of cardiac PET/MRI.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher
[do] DOI:10.1007/s11604-018-0727-2

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[PMID]: 29523377
[Au] Autor:Pereiro T; Golpe A; Lourido T; Valdés L
[Ad] Address:Servicio de Neumología, Complejo Hospitalario Universitario Santiago de Compostela, Santiago de Compostela, España. Electronic address: tpereirobrea@gmail.com.
[Ti] Title:Tumores extrapulmonares y sarcoidosis. ¿Relación casual o real? Extrapulmonary Tumors and Sarcoidosis. An Incidental or Real association?
[So] Source:Arch Bronconeumol;, 2018 Mar 06.
[Is] ISSN:1579-2129
[Cp] Country of publication:Spain
[La] Language:eng; spa
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

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[PMID]: 29519901
[Au] Autor:Bhimaraj A; Trachtenberg B; Valderrábano M
[Ti] Title:Robotically Guided Left Ventricular Biopsy to Diagnose Cardiac Sarcoidosis: A Multidisciplinary Innovation Leading to First-in-Human Case.
[So] Source:Circ Heart Fail;11(3):e004627, 2018 Mar.
[Is] ISSN:1941-3297
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.1161/CIRCHEARTFAILURE.117.004627

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[PMID]: 29519356
[Au] Autor:Pereira NL; Grogan M; Dec GW
[Ad] Address:Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota.
[Ti] Title:Spectrum of Restrictive and Infiltrative Cardiomyopathies: Part 2 of a 2-Part Series.
[So] Source:J Am Coll Cardiol;71(10):1149-1166, 2018 Mar 13.
[Is] ISSN:1558-3597
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Restrictive cardiomyopathies are the least common form of heart muscle disease. They are characterized as infiltrative and noninfiltrative, storage diseases, and endomyocardial disorders. Genetic diseases commonly present during childhood or adolescence. However, a growing percentage of elderly patients with heart failure with preserved ejection fraction are being recognized as having forms of restrictive cardiomyopathy, particularly cardiac amyloidosis. Noninvasive evaluation has replaced endomyocardial biopsy in the diagnostic evaluation of most suspected etiologies. The detection of infiltrative cardiomyopathies, particularly primary and secondary forms of iron overload, as well as inflammatory diseases such as sarcoidosis has slowly led to improved outcomes via disease-specific therapies.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review

  7 / 25310 MEDLINE  
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[PMID]: 29519355
[Au] Autor:Pereira NL; Grogan M; Dec GW
[Ad] Address:Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota.
[Ti] Title:Spectrum of Restrictive and Infiltrative Cardiomyopathies: Part 1 of a 2-Part Series.
[So] Source:J Am Coll Cardiol;71(10):1130-1148, 2018 Mar 13.
[Is] ISSN:1558-3597
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Restrictive cardiomyopathies are the least common form of heart muscle disease. They are characterized as infiltrative and noninfiltrative, storage diseases, and endomyocardial disorders. Genetic diseases commonly present during childhood or adolescence. However, a growing percentage of elderly patients with heart failure with preserved ejection fraction are being recognized as having forms of restrictive cardiomyopathy, particularly cardiac amyloidosis. Noninvasive evaluation has replaced endomyocardial biopsy in the diagnostic evaluation of most suspected etiologies. The detection of infiltrative cardiomyopathies, including lysosomal and glycogen storage disorders, iron overload, and amyloidosis (both light chain amyloidosis and transthyretin amyloidosis variants), as well as inflammatory diseases such as sarcoidosis has slowly led to improved outcomes via disease-specific therapies.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review

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[PMID]: 29517495
[Au] Autor:Abdulaziz N; Shah AR; McCune WJ
[Ad] Address:Division of Rheumatology, Department of Internal Medicine.
[Ti] Title:Hydroxychloroquine: balancing the need to maintain therapeutic levels with ocular safety: an update.
[So] Source:Curr Opin Rheumatol;, 2018 Mar 06.
[Is] ISSN:1531-6963
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PURPOSE OF REVIEW: Antimalarial drugs including chloroquine, its less toxic quinolone-derivative hydroxychloroquine (HCQ), and quinacrine have become cornerstones in the treatment of autoimmune diseases including systemic lupus, rheumatoid arthritis, sarcoidosis, and Sjogren syndrome; cutaneous disorders, antiphospholipid syndrome, and have recently been employed at higher dioses in oncology. Benefits include anti-inflammatory effects, protection against thrombosis, and improved control of hyperglycemia and hyperlipidemia. In general, both the therapeutic advantages and the toxic effects of the drugs correlate with the dose and the duration of therapy. Here we summarize the current literature regarding the administration and the safety profile of HCQ in management of rheumatologic disease and focus on the most recent revised American Academy of Ophthalmology (AAO) guidelines for prevention and detection of hydroxychloroquine retinopathy to help guide therapeutic decision-making for patients. RECENT FINDINGS: The risk of antimalarial-induced retinal toxicity is better predicted by calculating the daily dosage based on 5 mg/kg total body weight rather than 6.5 mg/kg lean body weight and reducing dosage in patients with risk factors such as renal failure. The risk of retinal toxicity after 5 years is substantially increased even when these guidelines are followed; hence dose reduction is appropriate with long-term use. Newer techniques provide improved detection of early signs of retinal damage. These advances are reflected in the revised AAO guidelines 2016, which are in part based on the retrospective study by Melles and Marmor of HCQ toxicity. SUMMARY: The most important changes in practice guidelines include dose calculation based on total body weight, dose reduction after long-term use, and intensified screening with techniques including optical coherence tomography (OCT) after 5 years.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1097/BOR.0000000000000500

  9 / 25310 MEDLINE  
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[PMID]: 29515009
[Au] Autor:Lucassen EA; Bootsma AH; Overbeek MJ
[Ad] Address:Department of Internal Medicine, Medical Center Haaglanden The Hague, the Netherlands.
[Ti] Title:Pancreatitis as the presenting symptom of abdominal sarcoidosis.
[So] Source:Neth J Med;76(2):84-86, 2018 Mar.
[Is] ISSN:1872-9061
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:We present a 60-year-old woman with non-pulmonary sarcoidosis manifesting as acute pancreatitis, possibly due to hypercalcaemia. Pancreatitis in sarcoidosis is rare, particularly as a presenting symptom. This case demonstrates that sarcoidosis should be included in the differential diagnosis of pancreatitis with hypercalcaemia, even without pulmonary signs of sarcoidosis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review

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[PMID]: 29443705
[Au] Autor:Crawford B; Badlissi F; Lozano Calderón SA
[Ad] Address:From the Department of Orthopaedic Surgery, Musculoskeletal Oncology Division, Massachusetts General Hospital, Boston, MA (Dr. Crawford and Dr. Lozano Calderón), the Department of Orthopaedic Surgery (Dr. Crawford) and the Department of Rheumatology (Dr. Badlissi), Beth Israel Deaconess Medical Center, Boston, and the Department of Orthopaedic Surgery, Boston Children's Hospital, Boston (Dr. Crawford).
[Ti] Title:Orthopaedic Considerations in the Management of Skeletal Sarcoidosis.
[So] Source:J Am Acad Orthop Surg;26(6):197-203, 2018 Mar 15.
[Is] ISSN:1940-5480
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Advanced imaging has demonstrated that musculoskeletal manifestations of systemic sarcoidosis are more common than previously thought. A definitive strategy for the management of osseous sarcoidosis has not been defined. Some lesions resolve spontaneously, and no systemic medication for sarcoidosis consistently resolves lesions. The orthopaedic surgeon treating patients with musculoskeletal sarcoidosis must make an appropriate diagnosis of bony lesions, seek multidisciplinary input from specialists in pulmonology and rheumatology regarding systemic treatment, and decide when surgery is necessary to prevent dysfunction.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Process
[do] DOI:10.5435/JAAOS-D-16-00252


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