Global View on Rare Diseases: A Mini Review

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Global View on Rare Diseases: A Mini Review

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Global View on Rare Diseases: A Mini Review

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30103 - Neurosciences (including psychophysiology)

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2017

Kód důvěrnosti údajů

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

Název periodika

Current Medicinal Chemistry

ISSN

0929-8673

e-ISSN

—

Svazek periodika

24

Číslo periodika v rámci svazku

29

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

6

Strana od-do

3153-3158

Kód UT WoS článku

000412686800002

EID výsledku v databázi Scopus

2-s2.0-85037862551