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001-es BibID:BIBFORM111993
035-os BibID:(cikkazonosító)1149 (WoS)001016877300001 (Scopus)85163968050
Első szerző:Balázs Gergely (csecsemő- és gyermekgyógyász, neonatológus)
Cím:Prevention of Chronic Morbidities in Extremely Premature Newborns with LISA-nCPAP Respiratory Therapy and Adjuvant Perinatal Strategies / Gergely Balázs, András Balajthy, István Seri, Thomas Hegyi, Tibor Ertl, Tamás Szabó, Tamás Röszer, Ágnes Papp, József Balla, Tamás Gáll, György Balla
Megjegyzések:Less invasive surfactant administration techniques, together with nasal continuous airway pressure (LISA-nCPAP) ventilation, an emerging noninvasive ventilation (NIV) technique in neonatology, are gaining more significance, even in extremely premature newborns (ELBW), under 27 weeks of gestational age. In this review, studies on LISA-nCPAP are compiled with an emphasis on short- and long-term morbidities associated with prematurity. Several perinatal preventative and therapeutic investigations are also discussed in order to start integrated therapies as numerous organ-saving techniques in addition to lung-protective ventilations. Two thirds of immature newborns can start their lives on NIV, and one third of them never need mechanical ventilation. With adjuvant intervention, these ratios are expected to be increased, resulting in better outcomes. Optimized cardiopulmonary transition, especially physiologic cord clamping, could have an additively beneficial effect on patient outcomes gained from NIV. Organ development and angiogenesis are strictly linked not only in the immature lung and retina, but also possibly in the kidney, and optimized interventions using angiogenic growth factors could lead to better morbidity-free survival. Corticosteroids, caffeine, insulin, thyroid hormones, antioxidants, N-acetylcysteine, and, moreover, the immunomodulatory components of mother's milk are also discussed as adjuvant treatments, since immature newborns deserve more complex neonatal interventions.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Antioxidants. - 12 : 6 (2023), p. 1-36. -
További szerzők:Balajthy András (1988-) (általános orvos) Seri István Hegyi Thomas Ertl Tibor Szabó Tamás (1968-) (gyermekgyógyász) Röszer Tamás (1979-) (orvos, biológus) Papp Ágnes (1967-) (gyermekgyógyász, pulmonológus) Balla József (1959-) (belgyógyász, nephrológus) Gáll Tamás (1982-) (molekuláris biológus, mikrobiológus) Balla György (1953-) (csecsemő és gyermekgyógyász, neonatológus)
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001-es BibID:BIBFORM090236
Első szerző:Sümegi Andrea (biológus)
Cím:A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary / Sümegi Andrea, Hendrik Zoltán, Gáll Tamás, Felszeghy Enikő, Szakszon Katalin, Antal-Szalmás Péter, Beke Lívia, Papp Ágnes, Méhes Gábor, Balla József, Balla György
ISSN:1471-2350 1471-2350
Megjegyzések:Background: Wolcott-Rallison Syndrome (WRS) is a rare autosomal recessive disease that is the most common cause of neonatal diabetes in consanguineous families. WRS is caused by various genetic alterations of the Eukaryotic Translation Initiation Factor 2-Alpha Kinase 3 (EIF2AK3) gene. Methods: Genetic analysis of a consanguineous family where two children were diagnosed with WRS was performed by Sanger sequencing. The altered protein was investigated by in vitro cloning, expression and immunohistochemistry. Results: The first cases in Hungary, ? two patients in one family, where the parents were fourth-degree cousins - showed the typical clinical features of WRS: early onset diabetes mellitus with hyperglycemia, growth retardation, infection-induced multiple organ failure. The genetic background of the disease was a novel alteration in the EIF2AK3 gene involving the splice site of exon 11? intron 11?12 boundary: g.53051_53062delinsTG. According to cDNA sequencing this created a new splice site and resulted in a frameshift and the development of an early termination codon at amino acid position 633 (p.Pro627AspfsTer7). Based on in vitro cloning and expression studies, the truncated protein was functionally inactive. Immunohistochemistry revealed that the intact protein was absent in the islets of pancreas, furthermore insulin expressing cells were also dramatically diminished. Elevated GRP78 and reduced CHOP protein expression were observed in the liver. Conclusions: The novel genetic alteration causing the absence of the EIF2AK3 protein resulted in insufficient handling of severe endoplasmic reticulum stress, leading to liver failure and demise of the patients.
taa, km
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Wolcott-Rallison syndrome
EIF2AK3 gene
Endoplasmic reticulum stress
PERK protein
Splice site variant
Indel alteration
Megjelenés:BMC Medical Genetics. - 21 : 61 (2020), p. 1-12. -
További szerzők:Hendrik Zoltán (1986-) (orvos) Gáll Tamás (1982-) (molekuláris biológus, mikrobiológus) Felszeghy Enikő Noémi (1970-) (gyermekgyógyász) Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Antal-Szalmás Péter (1968-) (laboratóriumi szakorvos) Beke Lívia Papp Ágnes (1967-) (gyermekgyógyász, pulmonológus) Méhes Gábor (1966-) (patológus) Balla József (1959-) (belgyógyász, nephrológus) Balla György (1953-) (csecsemő és gyermekgyógyász, neonatológus)
Pályázati támogatás:GINOP-2.3.2-15-2016-00043
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