TY - JOUR AU - Barkai, László TI - The Impact of Diabetes on Brain Health in Childhood JF - BIOMEDICINES J2 - BIOMEDICINES VL - 14 PY - 2026 IS - 3 PG - 17 SN - 2227-9059 DO - 10.3390/biomedicines14030721 UR - https://m2.mtmt.hu/api/publication/37040055 ID - 37040055 AB - 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. LA - English DB - MTMT ER - TY - JOUR AU - Drobňaková, Simona AU - Andrejková, Mária AU - Šaligová, Jana AU - Potočňáková, Ľudmila AU - Vargová, Veronika AU - Kuchta, Milan AU - Beňačka, Roman AU - Barkai, László TI - Rare Genetic Diseases with Founder Effect in Roma Children JF - LIFE-BASEL J2 - LIFE-BASEL VL - 16 PY - 2026 IS - 5 PG - 13 SN - 2075-1729 DO - 10.3390/life16050738 UR - https://m2.mtmt.hu/api/publication/37113774 ID - 37113774 AB - (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. LA - English DB - MTMT ER - TY - JOUR AU - Anna, Panaika AU - Barkai, László TI - Triglyceride-to-HDL-cholesterol Ratio as a Measure of Insulin Resistance in Obese Children and Adolescents JF - EGÉSZSÉGTUDOMÁNYI KÖZLEMÉNYEK: A MISKOLCI EGYETEM KÖZLEMÉNYE J2 - EGÉSZSÉGTUD KÖZL VL - 15 PY - 2025 IS - 2 SP - 5 EP - 12 PG - 8 SN - 2063-2142 DO - 10.32967/etk.2025.009 UR - https://m2.mtmt.hu/api/publication/36491512 ID - 36491512 LA - English DB - MTMT ER - TY - CHAP AU - Barkai, László ED - Kempler, Péter ED - Várkonyi, Tamás TI - A neuropathia gyermekkori diabetesben T2 - Neuropathiák a klinikai gyakorlatban PB - Vidal Next Kft. CY - Budapest SN - 9786150225395 PY - 2025 SP - 395 EP - 402 PG - 8 UR - https://m2.mtmt.hu/api/publication/36251289 ID - 36251289 LA - Hungarian DB - MTMT ER - TY - CHAP AU - Barkai, László TI - Neuropathy in childhood diabetes T2 - Neuropathies PB - Vidal Next Kft. CY - Budapest SN - 9786150230611 PY - 2025 SP - 379 EP - 385 PG - 7 UR - https://m2.mtmt.hu/api/publication/36251355 ID - 36251355 LA - English DB - MTMT ER - TY - JOUR AU - Barkai, László TI - Az 1-es típusú diabétesz stádiumbesorolása, szűrése és a progresszió lassításának lehetősége JF - DIABETOLOGIA HUNGARICA J2 - DIABETOLOGIA HUNGARICA VL - 33 PY - 2025 IS - 1 SP - 37 EP - 51 PG - 15 SN - 1217-372X UR - https://m2.mtmt.hu/api/publication/36052186 ID - 36052186 LA - Hungarian DB - MTMT ER - TY - JOUR AU - Barkai, László AU - Rácz, Olivér AU - Eigner, György AU - Kovács, Levente TI - 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 JF - DIABETOLOGY AND METABOLIC SYNDROME J2 - DIABETOL METAB SYNDR VL - 17 PY - 2025 IS - 1 PG - 6 SN - 1758-5996 DO - 10.1186/s13098-025-01749-x UR - https://m2.mtmt.hu/api/publication/36163715 ID - 36163715 LA - English DB - MTMT ER - TY - CHAP AU - Barkai, László AU - Kiss, Zoltán AU - Rokszin, György Aurél AU - Abonyi-Tóth, Zsolt AU - Jermendy, György AU - Wittmann, István AU - empler, Péter TI - 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 T2 - A Magyar Diabetes Társaság 2016 és 2024 között megjelent epidemiológiai vizsgálatainak gyűjteménye. Az MDT DIAB EPI közleményei PB - Tudomány Kiadó CY - Budapest SN - 9789638194893 PY - 2025 SP - 109 EP - 119 PG - 11 UR - https://m2.mtmt.hu/api/publication/36246255 ID - 36246255 LA - Hungarian DB - MTMT ER - TY - CHAP AU - Kiss, Zoltán AU - Rokszin, György Aurél AU - Abonyi-Tóth, Zsolt AU - Jermendy, György AU - Kempler, Péter AU - Barkai, László AU - Wittmann, István TI - A fiatal felnőtt, 1-es típusú cukorbetegségben szenvedők halálozási kockázata magasabb, mint hasonló korú, 2-es típusú diabeteses társaiké. Átfogó, reprezentatív hazai felmérés eredményei. T2 - A Magyar Diabetes Társaság 2016 és 2024 között megjelent epidemiológiai vizsgálatainak gyűjteménye. Az MDT DIAB EPI közleményei PB - Tudomány Kiadó CY - Budapest SN - 9789638194893 PY - 2025 SP - 71 EP - 80 PG - 10 UR - https://m2.mtmt.hu/api/publication/36246272 ID - 36246272 LA - Hungarian DB - MTMT ER - TY - JOUR AU - Koľvek, Gabriel AU - Klimčáková, Lucia AU - Hrčková, Gabriela AU - Židzik, Jozef AU - Podracká, Ľudmila AU - Baltesová, Tatiana AU - Kubejová, Kristína AU - Rosenberger, Jaroslav AU - Barkai, László TI - High Prevalence of Autosomal Recessive Alport Syndrome in Roma Population of Eastern Slovakia JF - BIOMEDICINES J2 - BIOMEDICINES VL - 13 PY - 2025 IS - 8 SP - 1 EP - 13 PG - 13 SN - 2227-9059 DO - 10.3390/biomedicines13081960 UR - https://m2.mtmt.hu/api/publication/36286953 ID - 36286953 AB - 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. LA - English DB - MTMT ER -