Overview of typical dental abnormalities in rare genetic syndromes occurring in the Czech Roma population

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F24%3A10489004" target="_blank" >RIV/00216208:11130/24:10489004 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11110/24:10489004 RIV/00064203:_____/24:10489004 RIV/00064165:_____/24:10489004

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=zGZOThdM3Y" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=zGZOThdM3Y</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.4149/BLL_2024_124" target="_blank" >10.4149/BLL_2024_124</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Overview of typical dental abnormalities in rare genetic syndromes occurring in the Czech Roma population

Popis výsledku v původním jazyce

BACKGROUND: The Roma population is a genetically isolated population with a shared origin, totaling between 10 to 14 million individuals worldwide, stemming from a limited number of &quot;genetic founders&quot;. Roma individuals exhibit specific hereditary diseases, often stemming from recessive genetic variants due to a higher degree of consanguinity, with recent molecular-genetic investigations shedding light on several conditions prevalent within the Czech Roma population. However, an overview of stomatological issues in diagnosing such diseases proves challenging, leading to frequent underdiagnosis or misdiagnosis. METHODS: The contribution monitors the clinical description, typical symptoms and treatment options including dental abnormalities in rare genetic diseases in the Roma population which are treated in ERN CRANIO centre at Motol University Hospital in Prague. RESULTS: Our research provides examples of autosomal recessive diseases, which can be molecularly confirmed, and prevalent within the Roma community. These include congenital cataract syndrome, facial dysmorphism and demyelinating neuropathy, non-syndromic prelingual e.g. deafness with GJB2 gene impairment, and myasthenic syndrome. CONCLUSION: Our report aimed to provide a systematic review of dental phenotypes which can relate to Czech Roma&apos;s rare genetic disorders therapy including dental treatment. Understanding is important for preventing unterdiagnosis or treatment for the patients affected review of observed (Fig. 6, Ref. 27). Text in PDF www.elis.sk

Název v anglickém jazyce

Overview of typical dental abnormalities in rare genetic syndromes occurring in the Czech Roma population

Popis výsledku anglicky

BACKGROUND: The Roma population is a genetically isolated population with a shared origin, totaling between 10 to 14 million individuals worldwide, stemming from a limited number of &quot;genetic founders&quot;. Roma individuals exhibit specific hereditary diseases, often stemming from recessive genetic variants due to a higher degree of consanguinity, with recent molecular-genetic investigations shedding light on several conditions prevalent within the Czech Roma population. However, an overview of stomatological issues in diagnosing such diseases proves challenging, leading to frequent underdiagnosis or misdiagnosis. METHODS: The contribution monitors the clinical description, typical symptoms and treatment options including dental abnormalities in rare genetic diseases in the Roma population which are treated in ERN CRANIO centre at Motol University Hospital in Prague. RESULTS: Our research provides examples of autosomal recessive diseases, which can be molecularly confirmed, and prevalent within the Roma community. These include congenital cataract syndrome, facial dysmorphism and demyelinating neuropathy, non-syndromic prelingual e.g. deafness with GJB2 gene impairment, and myasthenic syndrome. CONCLUSION: Our report aimed to provide a systematic review of dental phenotypes which can relate to Czech Roma&apos;s rare genetic disorders therapy including dental treatment. Understanding is important for preventing unterdiagnosis or treatment for the patients affected review of observed (Fig. 6, Ref. 27). Text in PDF www.elis.sk

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30208 - Dentistry, oral surgery and medicine

Projekt

<a href="/cs/project/NW24-06-00083" target="_blank" >NW24-06-00083: Ultra vzácná onemocnění s očním fenotypem: optimalizace diagnostiky a péče pomocí pokročilých genomických analýz, umělé inteligence a 3D digitálního fenotypování obličeje</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2024

Kód důvěrnosti údajů

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

Název periodika

Bratislavské lekárske listy / Bratislava Medical Journal

ISSN

0006-9248

e-ISSN

1336-0345

Svazek periodika

125

Číslo periodika v rámci svazku

12

Stát vydavatele periodika

SK - Slovenská republika

Počet stran výsledku

6

Strana od-do

807-812

Kód UT WoS článku

001383566400009

EID výsledku v databázi Scopus

2-s2.0-85211416186