12 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/01/14

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

Progress in the Treatment of Breast Cancer. Reply.

N Engl J Med. 2020 01 09;382(2):e4

Authors: Hayes DF

PMID: 31914254 [PubMed - indexed for MEDLINE]

Progress in the Treatment of Breast Cancer.

N Engl J Med. 2020 01 09;382(2):e4

Authors: Konner M

PMID: 31914253 [PubMed - indexed for MEDLINE]

Chronic recurrent multifocal osteomyelitis in children: a single center experience over five years.

Turk J Pediatr. 2019;61(3):386-391

Authors: Sağ E, Sönmez HE, Demir S, Bilginer Y, Ergen FB, Aydıngöz Ü, Özen S

Abstract
Sağ E, Sönmez HE, Demir S, Bilginer Y, Ergen FB, Aydıngöz Ü, Özen S. Chronic recurrent multifocal osteomyelitis in children: a single center experience over five years. Turk J Pediatr 2019; 61: 386-391. Chronic recurrent multifocal osteomyelitis (CRMO) is a rare disease characterized by sterile bone inflammation. It is an orphan disease with many unclear aspects in terms of diagnosis, treatment and follow-up. The aim of this study was to report our experience of pediatric CRMO patients. Children who were diagnosed with CRMO, and were followed-up between January 2008 and January 2017, were included in this study. There were 15 CRMO patients (8M/7F) with a median age at diagnosis of 9.0 years (range: 0.6-15.0). Bone pain was the most common presenting symptom. All of the patients had multifocal bone lesions. Vertebrae (66.7%) and femur (66.7%) were the most commonly affected bones. Eight of the patients also had sacroiliitis; however, only one of them was HLA-B27 positive. Whole-body magnetic resonance imaging (MRI) was used as a diagnostic tool in 13 patients revealing bone marrow edema (84.6%), osteitis (69.2%), and periosteal reaction (61.5%). All patients were initially treated with non-steroidal anti-inflammatory drugs (NSAIDs), however, disease-modifying anti-rheumatic drugs, anti-TNF agents or pamidronate were added to therapy due to inadequate treatment response. Clinical remission was achieved in 12 patients (1 with NSAIDs, 3 with methotrexate, 1 with pamidronate and 7 with an anti-TNF agent). During the follow-up period, relapses were observed in four patients who presented with pain and/or a newly formed bone lesion on MRI. Eventually, however, all of these patients also reached remission. CRMO is a chronic disease which may have a progressive or relapsing-remitting course. Improvement of the knowledge about this rare disease may help to enlighten the unknowns of the disease.

PMID: 31916716 [PubMed - in process]

Milia en plaque.

Presse Med. 2019 Dec;48(12):1589-1590

Authors: Zaouak A, Chamli A, Ben Jennet S, Hammami H, Fenniche S

PMID: 31753450 [PubMed - indexed for MEDLINE]

[A rare cause of dysphagia: Plummer Vinson syndrome associated with arteria lusoria].

Presse Med. 2019 Dec;48(12):1582-1584

Authors: Kchir H, Hassine A, Gharbi O, Ridene I, Maamouri N

PMID: 31703955 [PubMed - indexed for MEDLINE]

Pedunculated hepatic angiomyolipoma: A rare entity.

Presse Med. 2019 Oct;48(10):1189-1190

Authors: Lopes CV, Goldoni MB, Barra MB, Hartmann AA, Artifon ELA

PMID: 31653540 [PubMed - indexed for MEDLINE]

Innovation in Regulatory Science Is Meeting Evolution of Clinical Evidence Generation.

Clin Pharmacol Ther. 2019 04;105(4):886-898

Authors: Lee M, Ly H, Möller CC, Ringel MS

Abstract
At the turn of the century, the pharmaceutical industry began a transition toward a focus on oncology, rare diseases, and other areas of high unmet need that required a new, more complex approach to drug development. For many of these disease states and novel approaches to therapy, traditional approaches to clinical trial design fall short, and a number of innovative trial designs have emerged. In light of these changes, regulators across the globe are implementing new programs to provide regular development program support, facilitate accelerated access, use real-world data, and use digital tools to improve patients' lives. Emerging market regulators are also focusing on simplifying their regulatory pathways via regional harmonization schemes with varying levels of ambition. These changes in the external environment imply that biopharma regulatory teams need to adapt and evolve, leveraging digital tools, data, and analytics, and positioning themselves as strategic advisors during development.

PMID: 30636288 [PubMed - indexed for MEDLINE]

Anaesthesia and orphan disease: A child with incontinentia pigmenti.

Eur J Anaesthesiol. 2020 Feb;37(2):141-143

Authors: Sugur T, Kavakli AS, Metinyurt HF

PMID: 31913936 [PubMed - in process]

Anaesthesia and orphan disease: A 2-year-old with neuronal ceroid lipofuscinosis.

Eur J Anaesthesiol. 2020 Feb;37(2):138-141

Authors: Wang S, Pei L

PMID: 31913935 [PubMed - in process]

Anaesthesia and orphan disease: Tracheal reconstruction in two children with Morquio disease.

Eur J Anaesthesiol. 2020 Feb;37(2):132-137

Authors: Hack H, Chapman I, Finucane K, Barber C

PMID: 31913934 [PubMed - in process]

Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics.

J Am Med Inform Assoc. 2019 02 01;26(2):124-133

Authors: Lee JJY, van Karnebeek CDM, Wasserman WW

Abstract
Objective: The clinical diagnosis of genetic disorders is undergoing transformation, driven by whole exome sequencing and whole genome sequencing (WES/WGS). However, such nucleotide-level resolution technologies create an interpretive challenge. Prior literature suggests that clinicians may employ characteristic cognitive processes during WES/WGS investigations to identify disruptions in genes causal for the observed disease. Based on cognitive ergonomics, we designed and evaluated a gene prioritization workflow that supported these cognitive processes.
Materials and Methods: We designed a novel workflow in which clinicians recalled known genetic diseases with similarity to patient phenotypes to inform WES/WGS data interpretation. This prototype-based workflow was evaluated against the common computational approach based on physician-specified sets of individual patient phenotypes. The evaluation was conducted as a web-based user study, in which 18 clinicians analyzed 2 simulated patient scenarios using a randomly assigned workflow. Data analysis compared the 2 workflows with respect to accuracy and efficiency in diagnostic interpretation, efficacy in collecting detailed phenotypic information, and user satisfaction.
Results: Participants interpreted genetic diagnoses faster using prototype-based workflows. The 2 workflows did not differ in other evaluated aspects.
Discussion: The user study findings indicate that prototype-based approaches, which are designed to model experts' cognitive processes, can expedite gene prioritization and provide utility in synergy with common phenotype-driven variant/gene prioritization approaches. However, further research of the extent of this effect across diverse genetic diseases is required.
Conclusion: The findings demonstrate potential for prototype-based phenotype description to accelerate computer-assisted variant/gene prioritization through complementation of skills and knowledge of clinical experts via human-computer interaction.

PMID: 30535356 [PubMed - indexed for MEDLINE]

Individuals With the Rare Disease Pemphigus: A Quest for Diagnostic.

Qual Health Res. 2019 05;29(6):889-899

Authors: Le Hénaff Y, Héas S

Abstract
This qualitative study conducted in France of "individuals living with a pemphigus" (ILPs; N = 54) highlights the taxing diagnostic trajectory of those suffering from these rare autoimmune diseases. Beyond enduring a diagnostic period that may prove long, during their numerous medical appointments, these individuals internalize the expectations of the medical professionals who are treating them. In some cases, numerous inconclusive medical tests and, at times, a doctor's condescension may push the patient toward a process of renunciation. This article relates the ILPs' critiques of the medical work conducted during the trying diagnostic period.

PMID: 30296923 [PubMed - indexed for MEDLINE]

6 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/01/08

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

6 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/01/08

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

8 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/01/07

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

12 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/01/04

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

12 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/01/04

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

6 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/01/03

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

6 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/01/03

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.