Proposal of a familial hypercholesterolemia paediatric
diagnostic score (FH-PeDS)

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Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS)

Přehled o publikaci

J 2025

Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS)

KAFOL, Jan; Beatriz MIRANDA; Rok SIKONJA; Jaka SIKONJA; Albert WIEGMAN et. al.

Základní údaje

Originální název

Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS)

Autoři

Vydání

EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY, OXFORD, OXFORD UNIV PRESS, 2025, 2047-4873

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Organizace

Lékařská fakulta – Masarykova univerzita – Repozitář

DOI

https://doi.org/10.1093/eurjpc/zwaf352

UT WoS

001550751800001

EID Scopus

999

Klíčová slova anglicky

Familial hypercholesterolemia; Diagnostic criteria; Detection; Machine learning model; Cardiovascular disease; Children

Návaznosti

LX22NPO5104, projekt VaV.

Změněno: 2. 9. 2025 00:50, RNDr. Daniel Jakubík

Anotace

V originále

lt; 0.01) despite population differences. Conclusion Current FH diagnostic criteria perform sub-optimally in children. FH-PeDS and ML-FH-PeDS provide tools to improve FH detection, particularly where genetic testing is limited. They also help guide genetic testing decisions for hypercholesterolemic children. By enabling earlier diagnosis and intervention, these tools may reduce long-term cardiovascular risk and improve outcomes.

Přiložené soubory

https://is.muni.cz/publication/2514928/Proposal_of_a_familial_hypercholesterolemia_paediatric_diagnostic_score__FH-PeDS_.pdf

Citovat

KAFOL, Jan; Beatriz MIRANDA; Rok SIKONJA; Jaka SIKONJA; Albert WIEGMAN; Ana Margarida MEDEIROS; Ana Catarina ALVES; Tomáš FREIBERGER; Barbara A HUTTEN; Matej MLINARIC; Tadej BATTELINO; Steve E HUMPHRIES; Mafalda BOURBON a Urh GROSELJ. Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS). EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY. OXFORD: OXFORD UNIV PRESS, 2025, 13 s. ISSN 2047-4873. Dostupné z: https://doi.org/10.1093/eurjpc/zwaf352.

@article{82335,
   author = {Kafol, Jan and Miranda, Beatriz and Sikonja, Rok and Sikonja, Jaka and Wiegman, Albert and Medeiros, Ana Margarida and Alves, Ana Catarina and Freiberger, Tomáš and Hutten, Barbara A and Mlinaric, Matej and Battelino, Tadej and Humphries, Steve E and Bourbon, Mafalda and Groselj, Urh},
   article_location = {OXFORD},
   doi = {https://doi.org/10.1093/eurjpc/zwaf352},
   keywords = {Familial hypercholesterolemia; Diagnostic criteria; Detection; Machine learning model; Cardiovascular disease; Children},
   language = {eng},
   issn = {2047-4873},
   journal = {EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY},
   title = {Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS)},
   url = {https://academic.oup.com/eurjpc/advance-article/doi/10.1093/eurjpc/zwaf352/8169832?login=true},
   year = {2025}
}

TY  - JOUR
ID  - 82335
AU  - Kafol, Jan - Miranda, Beatriz - Sikonja, Rok - Sikonja, Jaka - Wiegman, Albert - Medeiros, Ana Margarida - Alves, Ana Catarina - Freiberger, Tomáš - Hutten, Barbara A - Mlinaric, Matej - Battelino, Tadej - Humphries, Steve E - Bourbon, Mafalda - Groselj, Urh
PY  - 2025
TI  - Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS)
JF  - EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
PB  - OXFORD UNIV PRESS
SN  - 2047-4873
KW  - Familial hypercholesterolemia
KW  - Diagnostic criteria
KW  - Detection
KW  - Machine learning model
KW  - Cardiovascular disease
KW  - Children
UR  - https://academic.oup.com/eurjpc/advance-article/doi/10.1093/eurjpc/zwaf352/8169832?login=true
N2  - lt; 0.01) despite population differences. Conclusion Current FH diagnostic criteria perform sub-optimally in children. FH-PeDS and ML-FH-PeDS provide tools to improve FH detection, particularly where genetic testing is limited. They also help guide genetic testing decisions for hypercholesterolemic children. By enabling earlier diagnosis and intervention, these tools may reduce long-term cardiovascular risk and improve outcomes.
ER  -

KAFOL, Jan; Beatriz MIRANDA; Rok SIKONJA; Jaka SIKONJA; Albert WIEGMAN; Ana Margarida MEDEIROS; Ana Catarina ALVES; Tomáš FREIBERGER; Barbara A HUTTEN; Matej MLINARIC; Tadej BATTELINO; Steve E HUMPHRIES; Mafalda BOURBON a Urh GROSELJ. Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS). \textit{EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY}. OXFORD: OXFORD UNIV PRESS, 2025, 13 s. ISSN~2047-4873. Dostupné z: https://doi.org/10.1093/eurjpc/zwaf352.