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From PubMed Clinical Queries

PubMed Clinical Queries is an utility offered by PubMed to search scientific literature in specific clinical research areas

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• Search PubMed Clinical Queries for "Rare diseases" 

Results: 5 of 27176

• Treatment of idiopathic inflammatory myositis associated interstitial lung disease: A systematic review and meta-analysis.
  Barba T, Fort R, Cottin V, Provencher S, Durieu I, Jardel S, Hot A, Reynaud Q, Lega JC.Autoimmun Rev. 2018 Dec 17; . Epub 2018 Dec 17.
• Non-pharmacological interventions for chronic pain in multiple sclerosis.
  Amatya B, Young J, Khan F.Cochrane Database Syst Rev. 2018 Dec 19; 12:CD012622. Epub 2018 Dec 19.
• Safety and efficacy of pridopidine in patients with Huntington's disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study.
  Reilmann R, McGarry A, Grachev ID, Savola JM, Borowsky B, Eyal E, Gross N, Langbehn D, Schubert R, Wickenberg AT, et al.Lancet Neurol. 2018 Dec 14; . Epub 2018 Dec 14.
• Baseline clinical characteristics, comorbidities and prescribed medication in a real-world population of patients with idiopathic pulmonary fibrosis: the PROOF registry.
  Wuyts WA, Dahlqvist C, Slabbynck H, Schlesser M, Gusbin N, Compere C, Maddens S, Kirchgaessler KU, Bartley K, Bondue B.BMJ Open Respir Res. 2018; 5(1):e000331. Epub 2018 Nov 21.
• Added value of chromosomal microarray analysis above conventional karyotyping in stillbirth work-up: a systematic review and meta-analysis.
  Martinez-Portilla RJ, Pauta M, Hawkins-Villarreal A, Rial-Crestelo M, Paz Y Miño F, Madrigal I, Figueras F, Borrell A.Ultrasound Obstet Gynecol. 2018 Dec 14; . Epub 2018 Dec 14.

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This column displays citations filtered to a specific clinical study category and scope. These search filters were developed by Haynes RB et al. See more filter information.

Systematic Reviews

Results: 5 of 689

• Treatment of idiopathic inflammatory myositis associated interstitial lung disease: A systematic review and meta-analysis.
  Barba T, Fort R, Cottin V, Provencher S, Durieu I, Jardel S, Hot A, Reynaud Q, Lega JC.Autoimmun Rev. 2018 Dec 17; . Epub 2018 Dec 17.
• Illustration of patient-reported outcome challenges and solutions in rare diseases: a systematic review in Cushing's syndrome.
  Knoble N, Nayroles G, Cheng C, Arnould B.Orphanet J Rare Dis. 2018 Dec 19; 13(1):228. Epub 2018 Dec 19.
• Non-pharmacological interventions for chronic pain in multiple sclerosis.
  Amatya B, Young J, Khan F.Cochrane Database Syst Rev. 2018 Dec 19; 12:CD012622. Epub 2018 Dec 19.
• Fine-needle aspiration to diagnose primary thyroid lymphoma: a systematic review and meta-analysis.
  Zhang L, Castellana M, Virili C, Crescenzi A, Giorgino F, Zucca E, Ceriani L, Cavalli F, Giovanella L, Trimboli P.Eur J Endocrinol. 2018 Dec 1; . Epub 2018 Dec 1.
• Added value of chromosomal microarray analysis above conventional karyotyping in stillbirth work-up: a systematic review and meta-analysis.
  Martinez-Portilla RJ, Pauta M, Hawkins-Villarreal A, Rial-Crestelo M, Paz Y Miño F, Madrigal I, Figueras F, Borrell A.Ultrasound Obstet Gynecol. 2018 Dec 14; . Epub 2018 Dec 14.

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This column displays citations for systematic reviews, meta-analyses, reviews of clinical trials, evidence-based medicine, consensus development conferences, and guidelines. See filter information or additional related sources.

Medical Genetics

Topic:AllDiagnosisDifferential DiagnosisClinical DescriptionManagementGenetic CounselingMolecular GeneticsGenetic Testing

Results: 5 of 18752

• Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
  Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran AA, Turner A, Belmont JW, Undiagnosed Diseases Network., Lee BH, Bacino CA, et al.Am J Med Genet A. 2018 Dec 19; . Epub 2018 Dec 19.
• Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?
  Schene IF, Korenke CG, Huidekoper HH, van der Pol L, Dooijes D, Breur JMPJ, Biskup S, Fuchs SA, Visser G.JIMD Rep. 2018 Dec 20; . Epub 2018 Dec 20.
• Factors Associated With Outcomes of Patients With Primary Sclerosing Cholangitis and Development and Validation of a Risk Scoring System.
  Goode EC, Clark AB, Mells GM, Srivastava B, Spiess K, Gelson WTH, Trivedi PJ, Kd L, Castren E, Vesterhus MN, et al.Hepatology. 2018 Dec 19; . Epub 2018 Dec 19.
• Mucopolysaccharidosis type II detection by Naïve Bayes Classifier: An example of patient classification for a rare disease using electronic medical records from the Canadian Primary Care Sentinel Surveillance Network.
  Ehsani-Moghaddam B, Queenan JA, MacKenzie J, Birtwhistle RV.PLoS One. 2018; 13(12):e0209018. Epub 2018 Dec 19.
• Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms.
  Pazmandi J, Kalinichenko A, Ardy RC, Boztug K.Immunol Rev. 2019 Jan; 287(1):162-185.

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This column displays citations pertaining to topics in medical genetics. See more filter information.