Global View on Rare Diseases: A Mini Review

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11150%2F17%3A10366934" target="_blank" >RIV/00216208:11150/17:10366934 - isvavai.cz</a>

Alternative codes found

RIV/00179906:_____/17:10366934 RIV/62690094:18450/17:50014791

Result on the web

<a href="http://dx.doi.org/10.2174/0919867314666170511111803" target="_blank" >http://dx.doi.org/10.2174/0919867314666170511111803</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.2174/0919867314666170511111803" target="_blank" >10.2174/0919867314666170511111803</a>

Result language

angličtina

Original language name

Global View on Rare Diseases: A Mini Review

Original language description

Background: Rare diseases are often serious, life-threatening and debilitating group of disorders. Nowadays, there are approximately 8,000 rare diseases and it is estimated that 350 million people are affected by these conditions worldwide. Unfortunately, rare diseases are quite complex and chronic, only a small number of these diseases can be relevantly diagnosed and treated, and lifelong treatment is often required. Objective: The purpose of this mini review is to explore the issue of rare diseases, describe their classification, discuss the current treatment and management and set future research in this field. Methods: The methods applied in this review include literature review of the world&apos;s acknowledged databases such as PubMed, Springer and Web of Science, especially in the period of 2000 to 2015. Furthermore, a method of comparison and evaluation of the findings from the relevant sources is used. Results: The findings confirm that rare diseases are still quite difficult to diagnose due to their comorbidities. Once they are diagnosed, they demand costly and long-term treatment, which raises concerns of national governments. Conclusion: Therefore more research should be done in the space of rare diseases in order to broaden knowledge about them, their diagnosis and treatment, which will then lead to better training of medical staff, and ultimately will benefit the patients.

Czech name

—

Czech description

—

Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30103 - Neurosciences (including psychophysiology)

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2017

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Current Medicinal Chemistry

ISSN

0929-8673

e-ISSN

—

Volume of the periodical

24

Issue of the periodical within the volume

29

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

6

Pages from-to

3153-3158

UT code for WoS article

000412686800002

EID of the result in the Scopus database

2-s2.0-85037862551