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001-es BibID:	BIBFORM054857
Első szerző:	Gyöngyösi Adrienn (biológus)
Cím:	Measuring expression levels of small regulatory RNA molecules from body fluids and formalin-fixed, paraffin-embedded samples / Adrienn Gyongyosi, Otto Docs, Zsolt Czimmerer, Laszlo Orosz, Attila Horvath, Olga Török, Gabor Mehes, Laszlo Nagy, Balint L. Balint
Dátum:	2014
Megjegyzések:	MicroRNAs are involved in the regulation of various pathophysiological processes such as immune regulation and cancer. Next-generation sequencing methods enable us to monitor their presence in various types of samples but we need flexible methods for validating datasets generated by high-throughput methods. Here we describe the detailed protocols to be used with our MiRNA Primer Design Tool assay design system. The presented methods allow the flexible design of the oligonucleotides needed for the RT-qPCR detection of any variant of small regulatory RNA molecules from virtually any species. This method can be used to measure miRNA levels from formalin-fixed, paraffin-embedded (FFPE) samples and various body fluids. As an example, we show the results of the hsa-miR-515-3p, hsa-miR-325, and hsa-miR-155 quantification using a specific UPL probe (Universal Probe Library) and a stem-loop RT-qPCR assay. The small nucleolar RNA RNU43 is used as endogenous control for normalization of the results. Urine from healthy pregnant women and FFPE samples from patients diagnosed with colorectal cancer and treated with antibody-based anti-EGFR monotherapy were used as samples.
ISBN:	978-1-4939-1061-8 (Print) 978-1-4939-1062-5 (Online)
Tárgyszavak:	Orvostudományok Klinikai orvostudományok könyvfejezet miRNS FFPE
Megjelenés:	RNA Mapping : Methods and Protocols / ed. M. Lucrecia Alvarez, Mahtab Nourbakhsh. - p. 105-119. -
További szerzők:	Dócs Ottó Czimmerer Zsolt (1981-) (molekuláris biológus) Orosz László (1984-) (szülész-nőgyógyász) Horváth Attila (1988-) (programtervező informatikus) Török Olga (1956-) (szülész-nőgyógyász, humángenetikus) Méhes Gábor (1966-) (patológus) Nagy László (1966-) (molekuláris sejtbiológus, biokémikus) Bálint Bálint László (1971-) (kutató orvos)
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001-es BibID:	BIBFORM104482
035-os BibID:	(WOS)000881107000001 (Scopus)85141650749
Első szerző:	Szűcs Zsuzsanna
Cím:	An Ultra-Rare Manifestation of an X-Linked Recessive Disorder : duchenne Muscular Dystrophy in a Female Patient / Szűcs Zsuzsanna, Pinti Éva, Haltrich Irén, Pálné Szén Orsolya, Nagy Tibor, Barta Endre, Méhes Gábor, Bidiga László, Török Olga, Ujfalusi Anikó, Koczok Katalin, Balogh István
Dátum:	2022
ISSN:	1422-0067
Megjegyzések:	Duchenne muscular dystrophy (DMD) is the most common inherited muscle dystrophy. Patients are characterized by muscle weakness, gross motor delay, and elevated serum creatinine kinase (CK) levels. The disease is caused by mutations in the DMD gene located on the X chromosome. Due to the X-linked recessive inheritance pattern, DMD most commonly affects males, who are generally diagnosed between the age of 3?5 years. Here we present an ultra-rare manifestation of DMD in a female patient. Cytogenetic examination showed that she has a t(X;10)(p21.1;p12.1) translocation, which turned out to affect the DMD gene with one of the breakpoints located in exon 54 (detected by genome sequencing). The X-inactivation test revealed skewed X-inactivation (ratio 99:1). Muscle histology and dystrophin immunohistochemistry showed severe dystrophic changes and highly reduced dystrophin expression, respectively. These results, in accordance with the clinical picture and a highly elevated serum CK, led to the diagnosis of DMD. In conclusion, although in very rare cases, DMD can manifest in female patients as well. In this case, a balanced X-autosome reciprocal translocation disrupts the DMD gene and skewed X-inactivation leads to the manifestation of the DMD phenotype.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	International Journal Of Molecular Sciences. - 23 : 21 (2022), p. 1-15. -
További szerzők:	Pinti Éva Haltrich Irén Pálné Szén Orsolya Nagy Tibor (bioinformatika) Barta Endre (1963-) (molekuláris biológus) Méhes Gábor (1966-) (patológus) Bidiga László (1977-) (patológus) Török Olga (1956-) (szülész-nőgyógyász, humángenetikus) Ujfalusi Anikó (1968-) (gyermekorvos, laboratóriumi szakorvos) Koczok Katalin (1979-) (labororvos) Balogh István (1972-) (molekuláris biológus, genetikus)
Pályázati támogatás:	TKP2021-NKTA-34 Egyéb ÚNKP-22-3-II-DE-164 Egyéb
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001-es BibID:	BIBFORM128338
Első szerző:	Vida Beáta (szülész-nőgyógyász)
Cím:	Placental insufficiency irrespective of offspring karyotype in maternal Turner syndrome : a case series and literature review / Vida Beáta, Török Olga, Krasznai Zoárd Tibor, Buczkó Zsuzsanna, Juhász Péter, Méhes Gábor, Orosz Mónika, Jakab Attila, Deli Tamás
Dátum:	2025
Megjegyzések:	Turner syndrome is one of the most common aneuploidies. In vitro fertilization with oocyte donation is the usual method of assisted conception, but spontaneous pregnancy can also occur. Although pregnancies in Turner syndrome are widely accepted to be associated with small for gestational age foetuses, neither the causal role of placental insufficiency nor the contribution of maternal and foetal factors is well understood. Between 2009 and 2023, we followed 75 patients diagnosed with Turner syndrome at our university clinic, and four Turner syndrome patients became pregnant (4/75; 5.3%): ten pregnancies with seven live births (7/10; 70%) were reported. Conception was spontaneous in 6/7 patients (86%), and one patient had in vitro fertilization with oocyte donation. Two Turner syndrome patients with karyotype 45,X and two Turner syndrome patients with mosaicism (45,X/46,XX) were identified. Prenatal transabdominal amniocentesis revealed aneuploidy (45,X) in two foetuses. The most common obstetric complication was placental insufficiency, which presented as intrauterine growth restriction and foetal distress. Four early-term deliveries, one late-term delivery, one preterm delivery, and one extremely premature delivery occurred, and all pregnancies were terminated by caesarean section. No severe maternal complications during pregnancy were reported. Only newborns with Turner syndrome had long-term health problems. In Turner syndrome patients, even if pregnancy is conceived spontaneously, no maternal complications occur, and the foetus also has a normal karyotype, there is still a high prevalence of placental insufficiency and foetal compromise. The presented cases highlight the possible role of inherent maternal factors in Turner syndrome-associated intrauterine growth restriction and emphasize the importance of enhanced obstetric surveillance even in apparently uncomplicated Turner syndrome pregnancies.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk Turner syndrome foetal growth retardation prenatal care caesarean section in vitro fertilization
Megjelenés:	Archives of Endocrinology and Metabolism. - 69 : 1 (2025), p. 1-8. -
További szerzők:	Török Olga (1956-) (szülész-nőgyógyász, humángenetikus) Krasznai Zoárd Tibor (1973-) (szülész-nőgyógyász, gyermeknőgyógyász) Buczkó Zsuzsanna (biológus) Juhász Péter (1987-) Méhes Gábor (1966-) (patológus) Orosz Mónika (1991-) (Szülész-nőgyógyász) Jakab Attila (1964-) (szülész-nőgyógyász, endokrinológus) Deli Tamás (1979-) (szülész-nőgyógyász, endokrinológus szakorvos)
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