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001-es BibID:BIBFORM102577
035-os BibID:(cikkazonosító)1158 (WoS)000833358700001 (Scopus)85133387423
Első szerző:Berta Eszter (belgyógyász)
Cím:Clinical Aspects of Genetic and Non-Genetic Cardiovascular Risk Factors in Familial Hypercholesterolemia / Berta Eszter, Zsíros Noémi, Bodor Miklós, Balogh István, Lőrincz Hajnalka, Paragh György, Harangi Mariann
Dátum:2022
ISSN:2073-4425
Megjegyzések:Abstract: Familial hypercholesterolemia (FH) is the most common monogenic metabolic disorder characterized by considerably elevated low-density lipoprotein cholesterol (LDL-C) levels leading to enhanced atherogenesis, early cardiovascular disease (CVD), and premature death. However, the wide phenotypic heterogeneity in FH makes the cardiovascular risk prediction challenging in clinical practice to determine optimal therapeutic strategy. Beyond the lifetime LDL-C vascular accumulation, other genetic and non-genetic risk factors might exacerbate CVD development. Besides the most frequent variants of three genes (LDL-R, APOB, and PCSK9) in some proband variants of other genes implicated in lipid metabolism and atherogenesis are responsible for FH phenotype. Furthermore, non-genetic factors, including traditional cardiovascular risk factors, metabolic and endocrine disorders might also worsen risk profile. Although some were extensively studied previously, others, such as common endocrine disorders including thyroid disorders or polycystic ovary syndrome are not widely evaluated in FH. In this review, we summarize the most important genetic and non-genetic factors that might affect the risk prediction and therapeutic strategy in FH through the eyes of clinicians focusing on disorders that might not be in the center of FH research. The review highlights the complexity of FH care and the need of an interdisciplinary attitude to find the best therapeutic approach in FH patients.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
familial hypercholesterolemia
genetic factors
risk stratification
endocrine diseases
high-density lipoprotein
thyroid
diabetes mellitus
polycystic ovary syndrome
growth hormone
Megjelenés:Genes. - 13 : 7 (2022), p. 1-19. -
További szerzők:Zsíros Noémi (1986-) (belgyógyász) Bodor Miklós (1969-) (belgyógyász, endokrinológus) Balogh István (1972-) (molekuláris biológus, genetikus) Lőrincz Hajnalka (1986-) (biológus) Paragh György (1953-) (belgyógyász) Harangi Mariann (1974-) (belgyógyász, endokrinológus)
Pályázati támogatás:Bridging Fund to MH (University of Debrecen Faculty of Medicine)
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ÚNKP-21-4.2 New National Excellence Program of the Ministry for Innovation and Technology from the source of the National Research, Development and Innovation Fund
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001-es BibID:BIBFORM099898
035-os BibID:(cikkazonosító)153 (WoS)000757045300001 (Scopus)85123003887
Első szerző:Madar László (klinikai laboratóriumi kutató)
Cím:Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia / Madar László, Juhász Lilla, Szűcs Zsuzsanna, Kerkovits Lóránt, Harangi Mariann, Balogh István
Dátum:2022
ISSN:2073-4425
Megjegyzések:Familial hypercholesterolemia (FH) is one of the most common autosomal, dominantly inherited diseases affecting cholesterol metabolism, which, in the absence of treatment, leads to the development of cardiovascular complications. The disease is still underdiagnosed, even though an early diagnosis would be of great importance for the patient to receive proper treatment and to prevent further complications. No studies are available describing the genetic background of Hungarian FH patients. In this work, we present the clinical and molecular data of 44 unrelated individuals with suspected FH. Sequencing of five FH-causing genes (LDLR, APOB, PCSK9, LDLRAP1 and STAP1) has been performed by next-generation sequencing (NGS). In cases where a copy number variation (CNV) has been detected by NGS, confirmation by multiplex ligation-dependent probe amplification (MLPA) has also been performed. We identified 47 causal or potentially causal (including variants of uncertain significance) LDLR and APOB variants in 44 index patients. The most common variant in the APOB gene was the c.10580G>A p.(Arg3527Gln) missense alteration, this being in accordance with literature data. Several missense variants in the LDLR gene were detected in more than one index patient. LDLR variants in the Hungarian population largely overlap with variants detected in neighboring countries.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
familial hypercholesterolemia
FH
Hungary
LDLR
APOB
next-generation sequencing
NGS
Megjelenés:Genes. - 13 : 1 (2022), p. 1-13. -
További szerzők:Juhász Lilla (1990-) (általános orvos) Szűcs Zsuzsanna Kerkovits Lóránt Harangi Mariann (1974-) (belgyógyász, endokrinológus) Balogh István (1972-) (molekuláris biológus, genetikus)
Pályázati támogatás:Briging Fund
Egyéb
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
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