Rare Disease Day 2018

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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 25374

• Ceftolozane/tazobactam: place in therapy.
  Giacobbe DR, Bassetti M, De Rosa FG, Del Bono V, Grossi PA, Menichetti F, Pea F, Rossolini G, Tumbarello M, Viale P, et al.Expert Rev Anti Infect Ther. 2018 Mar 1; . Epub 2018 Mar 1.
• Real-World Experience with Nintedanib in Patients with Idiopathic Pulmonary Fibrosis.
  Brunnemer E, Wälscher J, Tenenbaum S, Hausmanns J, Schulze K, Seiter M, Heussel CP, Warth A, Herth FJF, Kreuter M.Respiration. 2018 Feb 28; . Epub 2018 Feb 28.
• Propranolol for treating emotional, behavioural, autonomic dysregulation in children and adolescents with autism spectrum disorders.
  Sagar-Ouriaghli I, Lievesley K, Santosh PJ.J Psychopharmacol. 2018 Feb 1; :269881118756245. Epub 2018 Feb 1.
• The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities.
  Wei Y, McCormick A, MacKenzie A, O'Ferrall E, Venance S, Mah JK, Selby K, McMillan HJ, Smith G, Oskoui M, et al.Paediatr Child Health. 2018 Feb; 23(1):20-26. Epub 2017 Dec 8.
• A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease.
  Harmatz P, Whitley CB, Wang RY, Bauer M, Song W, Haller C, Kakkis E.Mol Genet Metab. 2018 Feb 12; . Epub 2018 Feb 12.

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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 1933

• Setting the IMPACT (IMProve Access to Clinical Trial data) Observatory baseline.
  Mahmić-Kaknjo M, Šimić J, Krleža-Jerić K.Biochem Med (Zagreb). 2018 Feb 15; 28(1):010201.
• Sequential analysis in neonatal research-systematic review.
  Lava SAG, Elie V, Ha PTV, Jacqz-Aigrain E.Eur J Pediatr. 2018 Feb 16; . Epub 2018 Feb 16.
• Screening for Ovarian Cancer: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.
  Henderson JT, Webber EM, Sawaya GF.JAMA. 2018 Feb 13; 319(6):595-606.
• Are Perceived Prevalences of Infection Also Biased and How? Lessons from Large Epidemics of Mosquito-Borne Diseases in Tropical Regions.
  Raude J, Peretti-Watel P, Ward J, Flamand C, Verger P.Med Decis Making. 2018 Feb 1; :272989X17750845. Epub 2018 Feb 1.
• Palmar fasciitis with polyarthritis-associated ovarian cancer: Case report and literature review.
  Kajikawa H, Sobajima T, Koiwai C, Ichigo S, Takagi H, Imai A.Mol Clin Oncol. 2018 Feb; 8(2):292-295. Epub 2017 Nov 24.

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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 17015

• The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.
  Khalaileh A, Abu-Diab A, Ben-Yosef T, Raas-Rothschild A, Lerer I, Alswaiti Y, Chowers I, Banin E, Sharon D, Khateb S.Invest Ophthalmol Vis Sci. 2018 Feb 1; 59(2):1095-1104.
• Hereditary palmoplantar keratodermas. Part I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features.
  Guerra L, Castori M, Didona B, Castiglia D, Zambruno G.J Eur Acad Dermatol Venereol. 2018 Feb 28; . Epub 2018 Feb 28.
• RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.
  Lochmüller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, Wood L, Harmuth T, Durudas A, Graessner H, et al.Eur J Hum Genet. 2018 Feb 27; . Epub 2018 Feb 27.
• Loss of p21 promoted tumorigenesis in the background of telomere dysfunctions induced by TRF2 and Wrn deficiency.
  Si X, Shao C, Li J, Jia S, Tang W, Zhang J, Yang J, Wu X, Luo Y.Int J Biol Sci. 2018; 14(2):165-177. Epub 2018 Jan 14.
• TRAPPED - an insight into two sisters' struggle to access treatment for a rare genetic disease.
  Al-Attar M.Orphanet J Rare Dis. 2018 Feb 27; 13(1):37. Epub 2018 Feb 27.

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