@article{MTMT:37040055,
	title = {The Impact of Diabetes on Brain Health in Childhood},
	url = {https://m2.mtmt.hu/api/publication/37040055},
	author = {Barkai, László},
	doi = {10.3390/biomedicines14030721},
	journal-iso = {BIOMEDICINES},
	journal = {BIOMEDICINES},
	volume = {14},
	unique-id = {37040055},
	abstract = {Background/Objectives: The global incidence of diabetes in childhood is increasing, raising concern about its long-term effects on the developing brain. Although paediatric diabetes research has traditionally focused on microvascular and macrovascular complications, accumulating evidence indicates that the brain is also a vulnerable target. Methods: This narrative review synthesizes current knowledge on the impact of diabetes on brain health in children and adolescents, with emphasis on epidemiology, neuroimaging and cognitive outcomes, underlying mechanisms, risk and protective factors, and clinical implications. Results: In type 1 diabetes (T1D), studies consistently demonstrate subtle but measurable alterations in brain structure, including reduced growth of total, grey, and white matter volumes, alongside functional and microstructural changes. These neurobiological differences are associated with mild deficits in cognition, particularly in attention, executive function, memory, and processing speed. While clinically significant impairment affects a minority, subclinical alterations are common and may accumulate over time. Key risk factors include chronic hyperglycaemia, glycaemic variability, severe hypoglycaemia, diabetic ketoacidosis, and younger age at onset, whereas good glycaemic stability, diabetes technologies, supportive psychosocial environments, and adequate sleep appear protective. Proposed mechanisms involve oxidative stress, neuroinflammation, disrupted insulin signalling, altered cerebral metabolism, and vulnerability of the immature brain during critical developmental windows. Type 2 diabetes (T2D), increasingly diagnosed in youth, is also associated with adverse brain outcomes. Emerging data link early-onset T2D to alterations in brain structure and connectivity, poorer cognitive performance, and increased mental health burden, mediated by hyperglycaemia, insulin resistance, inflammation, and psychosocial stressors. Conclusions: Overall, childhood diabetes—both T1D and T2D—is associated with meaningful effects on brain development and function. Longitudinal and interventional studies are needed to establish causality and determine whether optimizing glycaemic control and psychosocial support can mitigate neurocognitive risk. Recognizing brain health as a potential complication of paediatric diabetes has important implications for monitoring, prevention, and clinical care.},
	year = {2026},
	eissn = {2227-9059}
}

@article{MTMT:37113774,
	title = {Rare Genetic Diseases with Founder Effect in Roma Children},
	url = {https://m2.mtmt.hu/api/publication/37113774},
	author = {Drobňaková, Simona and Andrejková, Mária and Šaligová, Jana and Potočňáková, Ľudmila and Vargová, Veronika and Kuchta, Milan and Beňačka, Roman and Barkai, László},
	doi = {10.3390/life16050738},
	journal-iso = {LIFE-BASEL},
	journal = {LIFE-BASEL},
	volume = {16},
	unique-id = {37113774},
	abstract = {(1) Background: The characteristics of rare diseases (RDs) vary considerably—not only between different disease types but also between individual patients with the same condition. In the Roma community, we analyzed the most frequent rare genetic disorders related to the founder effect. (2) Methods: This retrospective study, conducted between January 2019 and January 2025 at the Clinical Genetics and Metabolics Outpatient Clinic in Košice, included 61 patients aged from infancy to 25 years diagnosed with hypomyelinating leukodystrophy 14, pontocerebellar hypoplasia type 1B, neuronal ceroid lipofuscinosis 7, or TMEM70 deficiency. (3) Results: This study includes the largest known cohort of patients with hypomyelinating leukodystrophy 14 caused by the UFM1 c.-273_-271delTCA mutation, predominantly affecting males (n = 17). The disorder is severe, with most patients dying before one year of age, and is characterized by inspiratory stridor, axial hypotonia, spastic quadriparesis, pseudobulbar signs, and microcephaly. In a separate group with pontocerebellar hypoplasia type 1B, six Roma patients (three males, three females) shared the same EXOSC3 mutation. Diagnosis occurred at an average age of 8.8 months, and most children did not survive beyond three years. Common features included microcephaly, severe hypotonia, and spastic quadriplegia. Thirteen children from eight families were diagnosed with neuronal ceroid lipofuscinosis 7, all carrying the same MFSD8 mutation. Symptoms typically began with psychomotor regression between ages 3 and 4, along with intellectual disability and seizures, which were more frequent in males. The mean age at diagnosis was 4.5 years, and eight children died before age nine. Finally, 25 patients with TMEM70 deficiency associated with Roma ancestry were identified, predominantly females, with a mean age of 9.95 years and the oldest patient aged 25. Four children died due to severe metabolic crises. Common findings included intellectual disability, global hypotonia, hypertrophic cardiomyopathy, epilepsy, and failure to thrive. (4) Conclusions: Most rare diseases are genetic and carry high morbidity and mortality, with no targeted therapies currently available. Their increased prevalence in the Roma population reflects founder effects and high consanguinity. Prenatal and newborn screening, along with voluntary carrier testing for couples, is essential for proactive health management.},
	year = {2026},
	eissn = {2075-1729},
	orcid-numbers = {Drobňaková, Simona/0000-0003-3234-0432; Kuchta, Milan/0000-0003-4749-1954}
}

@article{MTMT:36491512,
	title = {Triglyceride-to-HDL-cholesterol Ratio as a Measure of Insulin Resistance in Obese Children and Adolescents},
	url = {https://m2.mtmt.hu/api/publication/36491512},
	author = {Anna, Panaika and Barkai, László},
	doi = {10.32967/etk.2025.009},
	journal-iso = {EGÉSZSÉGTUD KÖZL},
	journal = {EGÉSZSÉGTUDOMÁNYI KÖZLEMÉNYEK: A MISKOLCI EGYETEM KÖZLEMÉNYE},
	volume = {15},
	unique-id = {36491512},
	issn = {2063-2142},
	year = {2025},
	eissn = {3004-3085},
	pages = {5-12}
}

@{MTMT:36251289,
	title = {A neuropathia gyermekkori diabetesben},
	url = {https://m2.mtmt.hu/api/publication/36251289},
	author = {Barkai, László},
	booktitle = {Neuropathiák a klinikai gyakorlatban},
	unique-id = {36251289},
	year = {2025},
	pages = {395-402}
}

@{MTMT:36251355,
	title = {Neuropathy in childhood diabetes},
	url = {https://m2.mtmt.hu/api/publication/36251355},
	author = {Barkai, László},
	booktitle = {Neuropathies},
	unique-id = {36251355},
	year = {2025},
	pages = {379-385}
}

@article{MTMT:36052186,
	title = {Az 1-es típusú diabétesz stádiumbesorolása, szűrése és a progresszió lassításának lehetősége},
	url = {https://m2.mtmt.hu/api/publication/36052186},
	author = {Barkai, László},
	journal-iso = {DIABETOLOGIA HUNGARICA},
	journal = {DIABETOLOGIA HUNGARICA},
	volume = {33},
	unique-id = {36052186},
	issn = {1217-372X},
	year = {2025},
	eissn = {2560-0168},
	pages = {37-51}
}

@article{MTMT:36163715,
	title = {Association between urinary albumin-to-creatinine ratio within the normal range and continuous glucose monitoring-derived metrics in children and adolescents with type 1 diabetes},
	url = {https://m2.mtmt.hu/api/publication/36163715},
	author = {Barkai, László and Rácz, Olivér and Eigner, György and Kovács, Levente},
	doi = {10.1186/s13098-025-01749-x},
	journal-iso = {DIABETOL METAB SYNDR},
	journal = {DIABETOLOGY AND METABOLIC SYNDROME},
	volume = {17},
	unique-id = {36163715},
	issn = {1758-5996},
	year = {2025},
	eissn = {1758-5996},
	orcid-numbers = {Kovács, Levente/0000-0002-3188-0800}
}

@{MTMT:36246255,
	title = {Az 1-es és 2-es típusú diabetes incidenciájának és prevalenciájának változásai 2 millió gyermek és serdülő körében Magyarországon 2001 és 2016 között. Egy országos, népességalapú tanulmány},
	url = {https://m2.mtmt.hu/api/publication/36246255},
	author = {Barkai, László and Kiss, Zoltán and Rokszin, György Aurél and Abonyi-Tóth, Zsolt and Jermendy, György and Wittmann, István and empler, Péter},
	booktitle = {A Magyar Diabetes Társaság 2016 és 2024 között megjelent epidemiológiai vizsgálatainak gyűjteménye. Az MDT DIAB EPI közleményei},
	unique-id = {36246255},
	year = {2025},
	pages = {109-119},
	orcid-numbers = {Abonyi-Tóth, Zsolt/0000-0002-5585-3313}
}

@{MTMT:36246272,
	title = {A fiatal felnőtt, 1-es típusú cukorbetegségben szenvedők halálozási kockázata magasabb, mint hasonló korú, 2-es típusú diabeteses társaiké. Átfogó, reprezentatív hazai felmérés eredményei.},
	url = {https://m2.mtmt.hu/api/publication/36246272},
	author = {Kiss, Zoltán and Rokszin, György Aurél and Abonyi-Tóth, Zsolt and Jermendy, György and Kempler, Péter and Barkai, László and Wittmann, István},
	booktitle = {A Magyar Diabetes Társaság 2016 és 2024 között megjelent epidemiológiai vizsgálatainak gyűjteménye. Az MDT DIAB EPI közleményei},
	unique-id = {36246272},
	year = {2025},
	pages = {71-80},
	orcid-numbers = {Abonyi-Tóth, Zsolt/0000-0002-5585-3313}
}

@article{MTMT:36286953,
	title = {High Prevalence of Autosomal Recessive Alport Syndrome in Roma Population of Eastern Slovakia},
	url = {https://m2.mtmt.hu/api/publication/36286953},
	author = {Koľvek, Gabriel and Klimčáková, Lucia and Hrčková, Gabriela and Židzik, Jozef and Podracká, Ľudmila and Baltesová, Tatiana and Kubejová, Kristína and Rosenberger, Jaroslav and Barkai, László},
	doi = {10.3390/biomedicines13081960},
	journal-iso = {BIOMEDICINES},
	journal = {BIOMEDICINES},
	volume = {13},
	unique-id = {36286953},
	abstract = {Background/Objectives: Alport syndrome (AS) predominantly presents with X-linked inheritance worldwide. However, the epidemiological landscape remains poorly characterized, particularly among ethnic minority groups like the Roma minority in Slovakia. Our study aimed to investigate the inheritance patterns of AS in this region and determine whether a distinct pattern predominates. Methods: Selective genetic screening for pathogenic variants previously occurring in Slovakia was performed. Samples from patients with persistent (familial) hematuria ± hearing loss who had not yet undergone biopsy or genetic testing were analyzed by high-resolution melting analysis. The prevalence of AS per million (pm) population was calculated by adding information on patients with previously confirmed AS. Results: Twenty-five new cases of ARAS, one digenic form, and two cases of XLAS were identified by screening. In total, we collected information on 46 patients with genetically or bioptically confirmed AS in the region of eastern Slovakia, corresponding to a prevalence of 29 pm population. The c.1598G>A (p.Gly533Asp) pathogenic variant of the collagen type IV alpha 4 chain, which follows an autosomal recessive inheritance pattern, was the most prevalent variant that was exclusively confirmed in Roma patients (n = 35), suggesting a founder effect. Within the Roma community, the prevalence of ARAS (the most prevalent inheritance pattern) corresponds to 133 pm of the Roma population, based on midpoint population estimates. Conclusions: Our findings demonstrate a unique genetic profile of AS in the Roma population, characterized by a high prevalence of ARAS, with implications for genetic counseling and screening strategies.},
	year = {2025},
	eissn = {2227-9059},
	pages = {1-13},
	orcid-numbers = {Koľvek, Gabriel/0000-0003-0220-1853; Klimčáková, Lucia/0000-0002-8004-9140; Židzik, Jozef/0000-0002-9863-4217; Rosenberger, Jaroslav/0000-0001-7201-889X}
}