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Condition: Rare Diseases
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Total 5 results found since Jan 2013.

A view of care pathways approved by Italian Regions, to face the challenge of the community-based healthcare: a quali-quantitative analysis of the Pdta Net database.
CONCLUSIONS: The high number of CPs approved in Italy confirms an increasing interest of the healthcare institutions. The collected CPs show an extreme variety of titles, text structures and disease choices. Given the absence of an institutional observatory and of devotees of shared and harmonized CPs, annually Pdta Net makes available an updated and complete overview of these governance tools, which are essential for the upcoming changes of the Italian national health service.PMID:36573531 | DOI:10.1701/3939.39228
Source: Cancer Control - December 27, 2022 Category: Cancer & Oncology Authors: Irene Dell'Anno Silvia Calabria Letizia Dondi Giulia Ronconi Leonardo Dondi Alice Addesi Antonella Pedrini Immacolata Esposito Aldo Pietro Maggioni Nello Martini Carlo Piccinni Source Type: research

What It ’s Like to Live With Stiff Person Syndrome
twIn an emotional social-media video posted Dec. 8, singer Celine Dion informed fans that she has been diagnosed with a rare neurological disease called stiff person syndrome. A diagnosis wasn’t easy or straightforward. “I’ve been dealing with problems with my health for a long time…we now know this is what’s been causing all of the spasms that I’ve been having,” said Dion, who is 54. Here’s what to know about the condition and what it feels like. What is stiff person syndrome? According to the National Institute of Neurological Disorders and Stroke, stiff person syndrome has...
Source: TIME: Health - December 9, 2022 Category: Consumer Health News Authors: Alice Park Tags: Uncategorized Disease healthscienceclimate Source Type: news

Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia
AbstractAdenosine deaminase 2 deficiency (DADA2), a rare and potentially fatal systemic autoinflammatory disease, is characterized by low or lack of ADA2 activity due toADA2 mutations. DADA2 symptoms are variable and include vasculitis, immunodeficiency, and cytopenia. Minimal data are available from Saudi Arabia. This retrospective study conducted at seven major tertiary medical centers examined the phenotypic and genotypic variabilities, clinical and diagnostic findings, and treatment outcomes among 20 Saudi patients with DADA2 from 14 families. The median age of the study cohort was 9.5  years (4–26 years). The clin...
Source: Journal of Clinical Immunology - October 14, 2022 Category: Allergy & Immunology Source Type: research

EPMA-World Congress 2015
Table of contents A1 Predictive and prognostic biomarker panel for targeted application of radioembolisation improving individual outcomes in hepatocellular carcinoma Jella-Andrea Abraham, Olga Golubnitschaja A2 Integrated market access approach amplifying value of “Rx-CDx” Ildar Akhmetov A3 Disaster response: an opportunity to improve global healthcare Russell J. Andrews, Leonidas Quintana A4 USA PPPM: proscriptive, profligate, profiteering medicine-good for 1 % wealthy, not for 99 % unhealthy Russell J. Andrews A5 The role of ...
Source: EPMA Journal - May 8, 2016 Category: Global & Universal Source Type: research

Diseases Neglected by the Media in Espírito Santo, Brazil in 2011–2012
Conclusions Media visibility acts as a strategy for legitimising priorities and contextualizing various realities. Therefore, we propose that the health problems identified should enter the public agenda and begin to be recognized as legitimate demands.
Source: PLoS Neglected Tropical Diseases - April 25, 2016 Category: Tropical Medicine Authors: Aline Guio Cavaca Source Type: research