@article{MTMT:36850527,
	title = {CDHR1-associated Retinal Dystrophies: Expanding the Clinical and Genetic Spectrum with a Hungarian Cohort},
	url = {https://m2.mtmt.hu/api/publication/36850527},
	author = {Takács, Ágnes Ildikó and Varsányi, Balázs and Telles Salgueiro Barboni, Mirella and Vámos, Rita and Lesch, Balázs and Dobos, Dominik and Clapp, Emilia and Végh, András and Zobor, Annamária Ditta and Knézy, Krisztina and Nagy, Zoltán Zsolt and Szabó, Viktória},
	doi = {10.3390/genes17010102},
	journal-iso = {GENES-BASEL},
	journal = {GENES},
	volume = {17},
	unique-id = {36850527},
	issn = {2073-4425},
	year = {2026},
	eissn = {2073-4425},
	orcid-numbers = {Takács, Ágnes Ildikó/0000-0002-3121-5106; Lesch, Balázs/0000-0002-6289-4797; Nagy, Zoltán Zsolt/0000-0002-7330-0464}
}

@article{MTMT:35697947,
	title = {Enhancing resilience: the impact of a near-peer mentoring program on medical students},
	url = {https://m2.mtmt.hu/api/publication/35697947},
	author = {Pölczman, Lea and Árva, Dorottya and Győrffy, Zsuzsa and Jámbor, Márk and Végh, András and Kristóf, Gergő and Purebl, György and Girasek, Edmond},
	doi = {10.3389/feduc.2024.1523310},
	journal-iso = {FRONT EDUC},
	journal = {FRONTIERS IN EDUCATION},
	volume = {9},
	unique-id = {35697947},
	year = {2025},
	eissn = {2504-284X},
	orcid-numbers = {Pölczman, Lea/0000-0001-6670-9846; Árva, Dorottya/0000-0003-3964-2708; Győrffy, Zsuzsa/0000-0001-6866-4653; Purebl, György/0000-0002-9750-2001; Girasek, Edmond/0000-0002-0579-6592}
}

@article{MTMT:36349508,
	title = {The occurrence of cystoid macular lesions in inherited retinal diseases and their genetic association: a retrospective study in a large Hungarian cohort},
	url = {https://m2.mtmt.hu/api/publication/36349508},
	author = {Barbara, Asboth and Alessandra, Sanrocco and Besztercei, Barbara and Takács, Ágnes Ildikó and Lesch, Balázs and Vámos, Rita and Telles Salgueiro Barboni, Mirella and Varsányi, Balázs and Végh, András and Knézy, Krisztina and Nagy, Zoltán Zsolt and Szabó, Viktória and Zobor, Annamária Ditta},
	journal-iso = {INVEST OPHTH VIS SCI},
	journal = {INVESTIGATIVE OPHTHALMOLOGY AND VISUAL SCIENCE},
	volume = {66},
	unique-id = {36349508},
	issn = {0146-0404},
	year = {2025},
	eissn = {1552-5783},
	orcid-numbers = {Takács, Ágnes Ildikó/0000-0002-3121-5106; Lesch, Balázs/0000-0002-6289-4797; Nagy, Zoltán Zsolt/0000-0002-7330-0464}
}

@article{MTMT:36380150,
	title = {Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort},
	url = {https://m2.mtmt.hu/api/publication/36380150},
	author = {Asbóth, Barbara and Sanrocco, Alessandra and Besztercei, Barbara and Lesch, Balázs and Takács, Ágnes Ildikó and Vámos, Rita and Varsányi, Balázs and Végh, András and Knézy, Krisztina and Szabó, Viktória and Nagy, Zoltán Zsolt and Zobor, Annamária Ditta},
	doi = {10.3390/genes16101212},
	journal-iso = {GENES-BASEL},
	journal = {GENES},
	volume = {16},
	unique-id = {36380150},
	issn = {2073-4425},
	abstract = {Background/Objectives: Cystoid macular lesion (CML) is a treatable cause of central vision loss in inherited retinal diseases (IRDs). We aimed to determine the frequency of CML in a large Hungarian IRD cohort and examine associations with causative genes. Methods: This longitudinal, retrospective, monocentric study included patients with genetically confirmed IRD identified from our database. Targeted next-generation sequencing (351-gene panel) and comprehensive ophthalmic evaluation were performed, including best-corrected visual acuity (BCVA) and spectral domain optical coherence tomography (SD-OCT). CML was defined as intraretinal hyporeflective spaces with well-defined borders visible on at least two B-scans within the SD-OCT macular volume and was categorized as cystoid macular edema (CME) or non-CME. Results: We enrolled 430 patients with genetically confirmed IRDs. CML was detected in 93 eyes of 57 patients. Mean age at OCT was 36.6 ± 18.7 years (range, 3–76); 32 were male (56.1%). Inheritance patterns were autosomal recessive in 24 (42.1%), X-linked in 19 (33.3%), and autosomal dominant in 14 (24.6%). Frequently implicated genes were RS1 (12/57), USH2A (7/57), NR2E3 (7/57), PRPF31 (4/57), RPGR (4/57), and RHO (4/57). CME predominated in retinitis pigmentosa (32/57, 56%), with mean BCVA 0.44 ± 0.29 (decimal) and central retinal thickness (CRT) 401 ± 181 µm. Non-CME CML occurred in 25/57 (44%)—notably in X-linked retinoschisis and enhanced S-cone syndrome—with BCVA 0.40 ± 0.23 and CRT 465 ± 258 µm. BCVA did not correlate with CRT (rS = 0.18). Conclusions: CML occurred in 13.2% of patients within a large Hungarian cohort of genetically confirmed IRDs. Patients with IRD—mainly RP—are at higher risk for CML. Gene therapy is promising for retinal diseases, but CMLs can compromise effectiveness. Reducing and managing CME before gene therapy corroborates retinal stability and the functional state essential for the proper delivery and penetration of corrective genes to the target cells.},
	year = {2025},
	eissn = {2073-4425},
	orcid-numbers = {Lesch, Balázs/0000-0002-6289-4797; Takács, Ágnes Ildikó/0000-0002-3121-5106; Nagy, Zoltán Zsolt/0000-0002-7330-0464}
}

@article{MTMT:36454558,
	title = {Genetic and clinical characterization of OPA1-associated autosomal dominant optic atrophy in Hungarian patients},
	url = {https://m2.mtmt.hu/api/publication/36454558},
	author = {Dobos, Dominik and Gál, Anikó and Balicza, Péter and Telles Salgueiro Barboni, Mirella and Végh, András and Sisa-Vajda, Szilvia and Knézy, Krisztina and Maka, Erika and Zobor, Annamária Ditta and Lesch, Balázs and Takács, Ágnes Ildikó and Tóth, Georgina and Besztercei, Barbara and Veres, Amarilla and Han, Ji Hoon and Rivolta, Carlo and Nagy, Zoltán Zsolt and Molnár, Mária Judit and Szabó, Viktória},
	journal-iso = {INVEST OPHTH VIS SCI},
	journal = {INVESTIGATIVE OPHTHALMOLOGY AND VISUAL SCIENCE},
	volume = {66},
	unique-id = {36454558},
	issn = {0146-0404},
	abstract = {Autosomal dominant optic atrophy (DOA) is one of the most common hereditary ophthalmic conditions, primarily caused by mutations in the OPA1 gene. A syndromic form known as DOA+ occurs in ~20% of patients with an OPA1 mutation. This study evaluated ophthalmic data, optical coherence tomography images, the retinal nerve fiber layer (RNFL) thickness, and correlations with variant types in patients treated at the Department of Ophthalmology at Semmelweis University. Between 2019 and 2024, we examined 22 OPA1-confirmed individuals from 11 families. Next-generation sequencing (NGS) panel tests were performed following a thorough pedigree analysis, multimodal imaging, and comprehensive ocular evaluations. In our cohort, we found familial forms in 9 families (20 patients) and sporadic forms in 2 cases (mean age: 37±17 ys, 12-70 ys). Based on the age of onset, 4 out of 22 patients (18.18%) exhibited a late-onset appearance (mean age of onset: 14±14 ys, 2-46 ys). Best corrected visual acuity (BCVA) was significantly reduced, with a mean of 0.6±0.38 logMAR, showing lateral symmetry. NGS panel tests identified six known pathogenic (P) and three likely pathogenic (LP) variants in the OPA1 gene. Additionally, we detected a novel LP variant [NM_130837.3(OPA1):c.1657T>A, (p.Tyr553Asn)] associated with an atypical phenotype, including severe visual and hearing impairment, intellectual disability, and prominent neuropsychiatric symptoms, such as behavioral disorders and learning disabilities. Among these variants, eight affected exonic regions, while two impacted intronic splice sites. We observed an isolated occurrence in 16 patients (72.73%, mean of logMAR 0.57±0.37, mean of RNFLavg 65.04±7.36 μm) and a syndromic form with variable expressivity in 6 individuals (27.27%, mean of logMAR 0.67±0.41, mean of RNFLavg 59.17±9.44 μm). Through extensive literature review and in silico analysis, we identified a novel LP variant associated with an atypically severe phenotype, including intellectual disability and a cluster of neuropsychiatric manifestations. Approximately 27% of the cohort exhibited additional features, such as auditory and/or neurological symptoms. The syndromic patients showed reduced BCVA and decreased RNFLavg thickness compared to the isolated cases, highlighting the correlation between disease severity and systemic manifestations. This abstract was presented at the 2025 ARVO Annual Meeting, held in Salt Lake City, Utah, May 4-8, 2025.},
	year = {2025},
	eissn = {1552-5783},
	orcid-numbers = {Gál, Anikó/0000-0002-2059-5748; Balicza, Péter/0000-0001-8555-5467; Maka, Erika/0000-0002-3631-3506; Lesch, Balázs/0000-0002-6289-4797; Takács, Ágnes Ildikó/0000-0002-3121-5106; Veres, Amarilla/0000-0002-6671-233X; Nagy, Zoltán Zsolt/0000-0002-7330-0464; Molnár, Mária Judit/0000-0001-9350-1864}
}

@article{MTMT:34720560,
	title = {A qualitative study of mentors' perceptions and experiences of a near-peer mentoring program for medical students},
	url = {https://m2.mtmt.hu/api/publication/34720560},
	author = {Pölczman, Lea and Jámbor, Márk and Győrffy, Zsuzsa and Purebl, György and Végh, András and Girasek, Edmond},
	doi = {10.3389/feduc.2024.1372697},
	journal-iso = {FRONT EDUC},
	journal = {FRONTIERS IN EDUCATION},
	volume = {9},
	unique-id = {34720560},
	abstract = {Introduction: During their academic studies, medical students may encounter a variety of challenging situations. It is no wonder that they have a higher prevalence of poor mental health than the general population. Mentoring programs have proven useful in promoting mental health in medical education. The study aimed to explore the perceptions and experiences of medical students as mentors in a near-peer mentoring program.
		
		Methods: A qualitative study was carried out between March and April 2022 at Semmelweis University in Budapest, Hungary. Five focus group discussions (FGDs) included 26 medical students who were enrolled as mentors in the mentoring program. The recordings were transcribed verbatim and anonymized. An deductive and semantic approach was adopted, and the data were analyzed with thematic analysis.
		
		Results: Three major themes were identified: professional and personal growth and reflections on the mentoring experience. Mentors reported growth in social and practical problem-solving skills, self-confidence, psychosocial benefits, and both personal and professional development. The program had a great impact on students’ sense of self-efficacy, self-awareness, perception of their competencies, and adherence to their boundaries.
		
		Discussion: In conclusion, the mentors strongly emphasized the professional and psychosocial benefits they perceived while participating in the mentoring program. Therefore, the experiences obtained during the mentoring are important milestones. Mentoring programs could greatly improve students both personally and professionally so that later, they will be the best possible professionals in the field of health care.},
	year = {2024},
	eissn = {2504-284X},
	orcid-numbers = {Pölczman, Lea/0000-0001-6670-9846; Győrffy, Zsuzsa/0000-0001-6866-4653; Purebl, György/0000-0002-9750-2001; Girasek, Edmond/0000-0002-0579-6592}
}

@article{MTMT:35132887,
	title = {How to use History and Physical Examination (H&P) in teaching English medical terminology and documentation skills in Hungary?},
	url = {https://m2.mtmt.hu/api/publication/35132887},
	author = {Császár, Judit and Jámbor, Márk and Keresztélyné Barta, Andrea and Végh, András and Fogarasi, Katalin},
	doi = {10.48040/PL.2024.1.4},
	journal-iso = {PORTA LINGUA},
	journal = {PORTA LINGUA},
	unique-id = {35132887},
	issn = {1785-2420},
	abstract = {History and Physical (H&P) is a genre for clinical documentation in Anglo-Saxon countries, which serves the detailed recording of patient history and physical examinations to facilitate medical decision-making. It is used in any medical field either as a template or as a digitalized text following a set of rules. In teaching Medical English and Terminology, it can be applied to demonstrate the use of terms in context and lexico-grammatical patterns typical of English-speaking countries. At Semmelweis University, we have started to involve this genre for LSP and Terminology instruction, especially examples created at emergency departments (ED), because these include extensive vocabulary related to all organ systems. These medical records (MR) also serve a didactic purpose as they contain general information on the diagnosed problems. In our case study, we compared ten Hungarian and ten American ED medical records to reveal generic, structural, and terminological discrepancies. We found differences in structure, terminology, abbreviations, and contents, which students should be made aware of. Clinicians involved in our pilot research suggested the introduction of didactic ED documentation also for the instruction of Hungarian students and residents as this genre might be a gap-filling tool for practicing concise documentation skills in emergency care.},
	year = {2024},
	eissn = {2064-3381},
	pages = {37-46},
	orcid-numbers = {Keresztélyné Barta, Andrea/0000-0002-8932-484X; Fogarasi, Katalin/0000-0003-0439-9373}
}

@CONFERENCE{MTMT:35394388,
	title = {Resilience Boost: Longitudinal Pilot Study of a Medical Student Near-Peer Mentoring Program},
	url = {https://m2.mtmt.hu/api/publication/35394388},
	author = {Pölczman, Lea and Árva, Dorottya and Győrffy, Zsuzsa and Jámbor, Márk and Végh, András and Kristóf, Gergő and Purebl, György and Girasek, Edmond},
	booktitle = {Health Psychology for a Sustainable Future},
	unique-id = {35394388},
	year = {2024},
	pages = {636-636},
	orcid-numbers = {Pölczman, Lea/0000-0001-6670-9846; Árva, Dorottya/0000-0003-3964-2708; Győrffy, Zsuzsa/0000-0001-6866-4653; Purebl, György/0000-0002-9750-2001; Girasek, Edmond/0000-0002-0579-6592}
}

@inbook{MTMT:35646570,
	title = {Metafora és képiség a tüdő elváltozásainak leírásában},
	url = {https://m2.mtmt.hu/api/publication/35646570},
	author = {Varga, Éva Katalin and Végh, András and Fogarasi, Katalin},
	booktitle = {Tudásmegosztás, információkezelés, alkalmazhatóság},
	unique-id = {35646570},
	year = {2024},
	pages = {221-229},
	orcid-numbers = {Varga, Éva Katalin/0000-0001-9278-7952; Fogarasi, Katalin/0000-0003-0439-9373}
}

@article{MTMT:36349622,
	title = {Molecular genetic characterization of patients with inherited retinal diseases in Hungary: solving mysteries},
	url = {https://m2.mtmt.hu/api/publication/36349622},
	author = {Hoon Han, Ji and Végh, András and Quinodoz, Mathieu and Dobos, Dominik and Vámos, Rita and Takács, Ágnes Ildikó and Knézy, Krisztina and Lesch, Balázs and Besztercei, Barbara and Nagy, Zoltán Zsolt and Varsányi, Balázs and Telles Salgueiro Barboni, Mirella and Zobor, Annamária Ditta and Szabó, Viktória and Rivolta, Carlo},
	journal-iso = {INVEST OPHTH VIS SCI},
	journal = {INVESTIGATIVE OPHTHALMOLOGY AND VISUAL SCIENCE},
	volume = {65},
	unique-id = {36349622},
	issn = {0146-0404},
	year = {2024},
	eissn = {1552-5783},
	orcid-numbers = {Takács, Ágnes Ildikó/0000-0002-3121-5106; Lesch, Balázs/0000-0002-6289-4797; Nagy, Zoltán Zsolt/0000-0002-7330-0464}
}