9 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 2019/07/04

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.

What can independent research for mesothelioma achieve to treat this orphan disease?

Expert Opin Investig Drugs. 2019 Jul 01;:1-14

Authors: Guazzelli A, Meysami P, Bakker E, Bonanni E, Demonacos C, Krstic-Demonacos M, Mutti L

Abstract
Introduction: Malignant pleural mesothelioma (MPM) is a rare neoplasm with a poor prognosis, as current therapies are ineffective. Despite the increased understanding of the molecular biology of mesothelioma, there is still a lack of drugs that dramatically enhance patient survival. Area Covered: This review discusses recent and complete clinical trials supported by the NIH, other U.S. Federal agencies, universities and organizations found on clinicaltrials.gov. Firstly, chemotherapy-based trials are described, followed by immunotherapy and multitargeted therapy. Then we introduce drug repositioning and the use of drug docking as tools to find new interesting molecules. Finally, we highlight potential molecular pathways that may play a role in mesothelioma biology and therapy. Expert Opinion: Numerous biases are present in the clinical trials due to a restricted number of cases, inappropriate endpoints and inaccurate stratification of patients which delay the finding of a treatment for MPM. The most crucial issue of independent research for MPM is the lack of more substantive funding to translate these findings to the clinical setting. However, this approach is not necessarily scientific given the low mutational load of mesothelioma relative to other cancers, and therefore patients need a more solid rationale to have a good chance of successful treatment.

PMID: 31262194 [PubMed - as supplied by publisher]

Gallbladder Hydrops Associated With Kawasaki Disease: A Case Report and Literature Review.

Clin Pediatr (Phila). 2018 03;57(3):341-343

Authors: Sun Q, Zhang J, Yang Y

PMID: 28952362 [PubMed - indexed for MEDLINE]

Osteochondroma of the Hyoid: First Pediatric Case and Literature Review.

Clin Pediatr (Phila). 2018 03;57(3):307-310

Authors: Raggio BS, Ficenec S, Flowers TC, Lawlor C, Rodriguez K

Abstract
Osteochondromas, the most common benign bone tumors, are cartilaginous neoplasms of unknown origin with rare malignant potential. Osteochondromas rarely occur in the head and neck, and diagnosis relies on a combination of clinical, radiological, and histological criteria. Excision is often curative. We describe the first reported case of hyoid osteochondroma in an adolescent male with multiple osteochondroma, discuss its surgical management, and perform a review of the salient literature. Osteochondroma represents a rare diagnosis to include in the differential of any midline neck mass.

PMID: 28728426 [PubMed - indexed for MEDLINE]

Neonatal Lemierre Syndrome: Youngest Reported Case and Literature Review.

Clin Pediatr (Phila). 2018 03;57(3):294-299

Authors: Raggio BS, Grant MC, Rodriguez K, Cripe PJ

Abstract
A previously healthy 5-week-old female was admitted for sepsis secondary to methicillin-resistant Staphylococcus aureus (MRSA) bacteremia. After several days of hospitalization, she experienced acute decompensation in mental status despite having received targeted antibiotic therapy. Imaging revealed left peritonsillar/parapharyngeal space abscess, left venous thrombophlebitis of the internal jugular vein, and septic emboli of the lungs and brain consistent with Lemierre syndrome. Bedside needle aspiration of the parapharyngeal abscess confirmed MRSA involvement. Unfortunately, the patient continued to deteriorate over the next several days and life support was withdrawn on hospital day 16. We present the youngest reported case of Lemierre syndrome and review the literature.

PMID: 28719983 [PubMed - indexed for MEDLINE]

10 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 2019/07/02

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.

18 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 2019/06/30

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.

18 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 2019/06/30

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.

16 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 2019/06/27

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.

14 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 2019/06/27

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.

14 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 2019/06/25

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.

Challenges of diagnosing and managing bronchiectasis in resource-limited settings: a case study.

Pan Afr Med J. 2019;32:82

Authors: Adetiloye A, Erhabor G, Awopeju O, Adewole O, Onini E, Adewuya O

Abstract
Bronchiectasis, once an orphan disease is now gaining renewed attention as a significant cause of morbidity and mortality. It is a morphologic term used to describe abnormal, irreversibly dilated and thick-walled bronchi, with many etiologies. The management of bronchiectasis can be challenging because its pathogenetic mechanisms is still evolving. Its diagnosis and management is particularly more demanding especially in resource-limited settings like Nigeria because of delayed diagnosis and improper management with devastating consequences, hence this case study.

PMID: 31223373 [PubMed - in process]

Ultra-orphan lysosomal storage diseases: a cross-sectional quantitative analysis of the natural history of alpha-mannosidosis.

J Inherit Metab Dis. 2019 Jun 20;:

Authors: Zielonka M, Garbade SF, Kölker S, Hoffmann GF, Ries M

Abstract
PURPOSE: Alpha-mannosidosis (OMIM 248500) is a rare lysosomal storage disorder caused by a deficiency of the enzyme alpha-mannosidase. Recently, enzyme replacement therapy was approved in the European Union for the treatment of alpha-mannosidosis, but evaluation regarding long-term efficacy and safety is hard to assess due to missing quantitative natural history data, in particular survival.
METHODS: We performed a quantitative analysis of published cases (N=111) with alpha-mannosidosis. Main outcome measures were age of disease onset, diagnostic delay and survival (overall and by subgroup exploration). Residual alpha-mannosidase activity and age of onset were explored as potential predictors of survival. STROBE criteria were respected.
RESULTS: Median age of onset was 12 months. Median diagnostic delay was 6 years. At the age of 41 years 72.3% of patients were alive (N=111). Residual alpha-mannosidase activity (N=34) predicted survival: Patients with a residual alpha-mannosidase activity below or equal to 4.5% of normal in fibroblasts had a median survival of 3.5 years, whereas patients with alpha-mannosidase activity above this threshold all survived during the observation period reported. Patients with age of onset above 7 years survived significantly longer than patients with age of onset below or equal to 7 years. Patient distribution was panethnic with hotspots in the USA and Germany.
SYNOPSIS: We defined age of onset, diagnostic delay and survival characteristics in a global cohort of 111 patients with alpha-mannosidosis by retrospective quantitative natural history modeling. These data expand the quantitative understanding of the clinical phenotype. This article is protected by copyright. All rights reserved.

PMID: 31222755 [PubMed - as supplied by publisher]

[Bartter syndrome, severe rare orphan kidney disease: a step towards therapy through pharmacogenetic and epidemiological studies].

G Ital Nefrol. 2018 May;35(3):

Authors: Conte E, Imbrici P, Sahbani D, Liantonio A, Conte D

Abstract
Bartter syndromes (BS) types 1-5 are rare salt-losing tubulopathies presenting with overlapping clinical phenotypes including marked salt wasting and hypokalemia leading to polyuria, polydipsia, volume contraction, muscle weakness and growth retardation. These diseases are due to an impairment of sodium, potassium, chloride reabsorption caused by mutations in genes encoding for ion channel or transporters expressed in specific nephron tubule segments. Particularly, BS type 3 is a clinically heterogeneous form caused by mutations in CLCNKB gene which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. Specific therapy for BS is lacking and the only pharmacotherapy up today available is purely symptomatic and characterized by limiting side effects. The improvement of our understanding of the phenotype/genotype correlation and of the precise pathogenic mechanisms associated with BS type 3 as well as the pharmacological characterization of ClC-K chloride channels are fundamental to design therapies tailored upon patients' mutation. This mini review focused on recent studies representing relevant forward steps in the field as well as noteworthy examples of how basic and clinical research can cooperate to gain insight into the pathophysiology of this renal channelopathy, paving the way for a personalized therapy.

PMID: 29786180 [PubMed - indexed for MEDLINE]

Children's rare disease rehabilitation: from multidisciplinarity to the transdisciplinarity approach.

Eur J Phys Rehabil Med. 2019 Feb;55(1):136-137

Authors: Trabacca A, Russo L

Abstract

PMID: 29099161 [PubMed - indexed for MEDLINE]

Rare case of severe acute pancreatitis following over-the-scope clip-assisted duodenal endoscopic mucosal resection using a cap-fitted endoscope in a patient with pancreas divisum.

Dig Endosc. 2018 09;30(5):679

Authors: Tashima T, Ryozawa S, Ohata K

PMID: 29856503 [PubMed - indexed for MEDLINE]

Modeling Rare Bone Diseases in Animals.

Curr Osteoporos Rep. 2018 08;16(4):458-465

Authors: O'Brien CA, Morello R

Abstract
PURPOSE OF REVIEW: The goal of this review is to highlight some of the considerations involved in creating animal models to study rare bone diseases and then to compare and contrast approaches to creating such models, focusing on the advantages and novel opportunities offered by the CRISPR-Cas system.
RECENT FINDINGS: Gene editing after creation of double-stranded breaks in chromosomal DNA is increasingly being used to modify animal genomes. Multiple tools can be used to create such breaks, with the newest ones being based on the bacterial adaptive immune system known as CRISPR/Cas. Advances in gene editing have increased the ease and speed, while reducing the cost, of creating novel animal models of disease. Gene editing has also expanded the number of animal species in which genetic modification can be performed. These changes have significantly increased the options for investigators seeking to model rare bone diseases in animals.

PMID: 29802575 [PubMed - indexed for MEDLINE]

Case of pyloric gland adenoma accompanied by a component of foveolar epithelial-type adenoma within the lesion.

Dig Endosc. 2018 09;30(5):673

Authors: Nakajo K, Oono Y, Kuwata T

PMID: 29729058 [PubMed - indexed for MEDLINE]

International experiences in multicriteria decision analysis (MCDA) for evaluating orphan drugs: a scoping review.

Expert Rev Pharmacoecon Outcomes Res. 2019 Jun 18;:

Authors: Lasalvia P, Prieto L, Moreno M, Castrillón J, Romano G, Garzón N, Rosselli D

Abstract
Introduction Orphan diseases are low-prevalence conditions with chronically debilitating or life-threatening consequences. Their treatments are generally called orphan drugs (OD). Health technology assessment processes have traditionally considered cost-effectiveness analysis (CEA), when making reimbursement and pricing decisions for healthcare plans. Valuing OD with standard CEA raises important issues due to uncertain evidence, inability to meet cost-effectiveness thresholds for reimbursement and high budget impact, among others. Multi-criteria decision analysis (MCDA) allows to overcome these issues and improve technical and ethical quality of decisions regarding prioritization, coverage and reimbursement of OD. Areas covered A scoping review was conducted in order to characterize MCDA frameworks for assessing OD and implementation experiences. We reviewed electronic databases (Medline, Embase, Cochrane Library, EBSCO, CINAHL, EconLit, Web of Science, LILACS, Google Scholar) key journals (Orphanet Journal of Rare Diseases and Value in Health) and organization repositories. Expert opinion The theoretical framework for MCDA considers areas related to characteristics of orphan diseases and their technologies' clinical and economic impact. Participation processes are critical in incorporating societal values in weighting different dimensions and constructing decision rules. Local implementation pilots considering different stakeholders are necessary in order to pinpoint specific barriers and opportunities.

PMID: 31210065 [PubMed - as supplied by publisher]

Genome-Wide Profiling of Laron Syndrome Patients Identifies Novel Cancer Protection Pathways.

Cells. 2019 Jun 15;8(6):

Authors: Werner H, Lapkina-Gendler L, Achlaug L, Nagaraj K, Somri L, Yaron-Saminsky D, Pasmanik-Chor M, Sarfstein R, Laron Z, Yakar S

Abstract
Laron syndrome (LS), or primary growth hormone resistance, is a prototypical congenital insulin-like growth factor 1 (IGF1) deficiency. The recent epidemiological finding that LS patients do not develop cancer is of major scientific and clinical relevance. Epidemiological data suggest that congenital IGF1 deficiency confers protection against the development of malignancies. This 'experiment of nature' reflects the critical role of IGF1 in tumor biology. The present review article provides an overview of recently conducted genome-wide profiling analyses aimed at identifying mechanisms and signaling pathways that are directly responsible for the link between life-time low IGF1 levels and protection from tumor development. The review underscores the concept that 'data mining' an orphan disease might translate into new developments in oncology.

PMID: 31208077 [PubMed]