A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
Identifikátory výsledku
Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F16%3A10327668" target="_blank" >RIV/00064165:_____/16:10327668 - isvavai.cz</a>
Nalezeny alternativní kódy
RIV/00216208:11110/16:10327668
Výsledek na webu
<a href="http://dx.doi.org/10.1186/s12887-016-0641-7" target="_blank" >http://dx.doi.org/10.1186/s12887-016-0641-7</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1186/s12887-016-0641-7" target="_blank" >10.1186/s12887-016-0641-7</a>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
Popis výsledku v původním jazyce
Background: Niemann-Pick disease Type C (NP-C) is difficult to diagnose due to heterogeneous and nonspecific clinical presentation. The NP-C Suspicion Index (SI) was developed to identify patients with a high likelihood of NP-C; however, it was less reliable in patients aged < 4 years. Methods: An early-onset NP-C SI was constructed following retrospective chart review of symptom presentation in 200 patients from nine centres comprised of 106 NP-C cases, 31 non-cases and 63 controls. Statistical analyses defined strength of association between symptoms and a diagnosis of NP-C and assigned risk prediction scores to each symptom. Results: Visceral symptoms were amongst the strongest predictors. Except for gelastic cataplexy and vertical supranuclear gaze palsy, central nervous system symptoms were not discriminatory in this population. Performance of the early-onset NP-C SI was superior versus the original NP-C SI in patients aged <= 4 years. Conclusions: The early-onset NP-C SI can help physicians, especially those with limited knowledge of NP-C, to identify patients aged <= 4 years who warrant further investigation for NP-C.
Název v anglickém jazyce
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
Popis výsledku anglicky
Background: Niemann-Pick disease Type C (NP-C) is difficult to diagnose due to heterogeneous and nonspecific clinical presentation. The NP-C Suspicion Index (SI) was developed to identify patients with a high likelihood of NP-C; however, it was less reliable in patients aged < 4 years. Methods: An early-onset NP-C SI was constructed following retrospective chart review of symptom presentation in 200 patients from nine centres comprised of 106 NP-C cases, 31 non-cases and 63 controls. Statistical analyses defined strength of association between symptoms and a diagnosis of NP-C and assigned risk prediction scores to each symptom. Results: Visceral symptoms were amongst the strongest predictors. Except for gelastic cataplexy and vertical supranuclear gaze palsy, central nervous system symptoms were not discriminatory in this population. Performance of the early-onset NP-C SI was superior versus the original NP-C SI in patients aged <= 4 years. Conclusions: The early-onset NP-C SI can help physicians, especially those with limited knowledge of NP-C, to identify patients aged <= 4 years who warrant further investigation for NP-C.
Klasifikace
Druh
J<sub>x</sub> - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
CEP obor
FH - Neurologie, neurochirurgie, neurovědy
OECD FORD obor
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Návaznosti výsledku
Projekt
<a href="/cs/project/NT12239" target="_blank" >NT12239: Niemann-Pickova choroba typu C: klinická, molekulárně genetická, biochemická a morfologická studie. Návrh nových diagnostických a prediktivních algoritmů</a><br>
Návaznosti
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Ostatní
Rok uplatnění
2016
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
BMC Pediatrics
ISSN
1471-2431
e-ISSN
—
Svazek periodika
16
Číslo periodika v rámci svazku
July
Stát vydavatele periodika
GB - Spojené království Velké Británie a Severního Irska
Počet stran výsledku
10
Strana od-do
—
Kód UT WoS článku
000380242200004
EID výsledku v databázi Scopus
2-s2.0-84979246942