@article{MTMT:34756390,
	title = {Blood pressure in preterm infants with bronchopulmonary dysplasia in the first three months of life},
	url = {https://m2.mtmt.hu/api/publication/34756390},
	author = {Kiss, Judit Klára and Gajda , Anna and Mari, Judit and Bereczki, Csaba},
	doi = {10.1007/s00467-024-06354-0},
	journal-iso = {PEDIATR NEPHROL},
	journal = {PEDIATRIC NEPHROLOGY},
	unique-id = {34756390},
	issn = {0931-041X},
	year = {2024},
	eissn = {1432-198X},
	orcid-numbers = {Mari, Judit/0000-0003-3176-6116; Bereczki, Csaba/0000-0003-0091-3558}
}

@article{MTMT:34749104,
	title = {A Turner-szindróma áttekintése az újabb genetikai ismeretek és a multidiszciplináris beteggondozás tekintetében},
	url = {https://m2.mtmt.hu/api/publication/34749104},
	author = {Beniczky, Nikolett Jusztina and Szücs, Nikolette and Gellén, Balázs and Bertalan, Rita},
	doi = {10.1556/650.2024.32998},
	journal-iso = {ORV HETIL},
	journal = {ORVOSI HETILAP},
	volume = {165},
	unique-id = {34749104},
	issn = {0030-6002},
	abstract = {A Turner-szindróma női fenotípussal járó komplex betegség, melynek oka az egyik X-kromoszóma teljes vagy részleges hiánya. Előfordulási gyakorisága leány újszülött esetén 1/2000–2500. A legújabb diagnosztikus kritériumok, a genetikai háttér egyre pontosabb ismerete, a terápiás lehetőségek fejlődése és az egyre részletesebb gondozási protokollok segítséget nyújtanak a betegség minél korábbi felismeréséhez és a betegek életminőségének nagy fokú javításához. A beteggondozás legfontosabb eleme minden életkorban a multidiszciplináris ellátás, mivel a Turner-szindrómás pácienseknél a különböző életszakaszokban más és más, de egyszerre akár több tünet, illetve betegség vagy szövődmény manifesztálódása is várható. A szindrómához társuló fenotípusbeli eltérések nagy variációt mutatnak. Leggyakoribb tünete az alacsony termet, a petefészek dysgenesise által okozott hypogonadismus és következményes késői vagy elmaradt pubertas. Graviditás csupán 4,8–7,6%-ban fordul elő. A testi elváltozások mellett több szervrendszer érintett, így várható különböző, Turner-szindrómával összefüggő betegségek – úgymint veleszületett szív- és vesefejlődési rendellenességek, vérnyomáseltérés, fülészeti, szemészeti, pajzsmirigy-, ortopéd betegségek, neurokognitív diszfunkció, a csont-ásványianyag csökkenése és autoimmun betegségek – előfordulása is. Összefoglalónk célja, hogy segítséget nyújtson a Turner-szindrómás betegek minél korábbi diagnosztizálásához és az élethosszig tartó teljes körű beteggondozáshoz, különös tekintettel endokrinológiai és kardiológiai ellátásukra. Orv Hetil. 2024; 165(11): 416–423.},
	year = {2024},
	eissn = {1788-6120},
	pages = {416-423},
	orcid-numbers = {Szücs, Nikolette/0000-0002-6614-1311; Bertalan, Rita/0000-0003-4700-4167}
}

@article{MTMT:34683154,
	title = {A hereleszállási zavarok kezelése Magyarországon – hol tartunk most?},
	url = {https://m2.mtmt.hu/api/publication/34683154},
	author = {Varga, Alexandra and Tardi, Réka and Kovács, Tamás},
	doi = {10.1556/650.2024.32957},
	journal-iso = {ORV HETIL},
	journal = {ORVOSI HETILAP},
	volume = {165},
	unique-id = {34683154},
	issn = {0030-6002},
	abstract = {Bevezetés: A hereleszállási zavarok korszerű gyermekkori kezelése nélkülözhetetlen a hosszú távú morbiditás – infertilitás, malignus heretumorok – kialakulásának elkerüléséhez. Célkitűzés: Az ellátási gyakorlat fejlesztése érdekében vizsgálatunkban fel kívántuk tárni, hogy a kórkép magyarországi ellátása megfelel-e az aktuális hazai és főbb nemzetközi, elsősorban európai irányelveknek. Módszer: és szakellátás felméréséhez 2023-ban online kérdőíves vizsgálatot végeztünk a Házi Gyermekorvosok Egyesületének, valamint a Magyar Gyermeksebész Társaság tagjainak körében. A válaszokat leíró statisztikai módszerekkel elemeztük. Eredmények: A hereleszállási zavarok kezelését a felmérésben részt vevő alapellátók (n = 69) esetében elsősorban a szakképzésük során tanultak (65,2%), míg a szakellátás képviselőinek körében (n = 56) döntően a nemzetközi irányelvek (66,1%) befolyásolják. A kérdőívet kitöltő házi gyermekorvosok 98,6%-a ellenőrzi a herék újszülöttkori helyzetét, és eltérés észlelésekor 88,4%-uk megfelelő időben utalja szakrendelésre a gyermeket. Az orchidopexia optimális idejét 66,6%-uk ismeri. A retraktilis herék kezelése 59,4%-uk ismeretei szerint elsősorban konzervatív, és 60,8%-uk végzi a pubertáskorig utánkövetésüket. Orchidopexiát követően 39,1%-uk végzi kamaszkorig a gondozást. A szakellátás képviselői (98,2%) az orchidopexiát a megfelelő életkorra időzítik, nem tapintható herék észlelésekor azonban 28,6%-uk kér preoperatív ultrahangvizsgálatot. A magas hasüregi herék kezelése elsősorban (82,1%) a minimálinvazív Shehata-műtéttel történik. Megbeszélés: A hereleszállási zavarok hazai kezelése döntően az aktuális irányelvek szerint zajlik, mindemellett az alapellátás képviselőinek ismeretei néhány fontos kérdésben – a műtéti ellátás optimális időzítése, retraktilis herék és orchidopexián átesett gyermekek gondozása – hiányosak. A gyermeksebészeti szakellátás modern szemléletű, korszerű minimálinvazív technikák alkalmazásával zajlik, ultrahangvizsgálat azonban sok esetben feleslegesen történik. Következtetés: A hereleszállási zavarok kezelésére vonatkozó ismeretek szélesebb körű terjesztése szükséges az országos szintű, minden tekintetben korszerű ellátás megvalósulásához és a hosszú távú morbiditás csökkentéséhez. Orv Hetil. 2024; 165(4): 138–146.},
	year = {2024},
	eissn = {1788-6120},
	pages = {138-146},
	orcid-numbers = {Varga, Alexandra/0000-0001-7057-5983}
}

@CONFERENCE{MTMT:34551935,
	title = {Altered multisensory integration in pediatric migraine without aura},
	url = {https://m2.mtmt.hu/api/publication/34551935},
	author = {Eördegh, Gabriella and Braunitzer, Gábor and Tót, Kálmán and Kiss, Ádám and Kóbor, Jenő Dezső and Nagy, Attila},
	booktitle = {International Neuroscience Conference, Pécs 2024},
	unique-id = {34551935},
	abstract = {Alterations of visual processing in migraine are well known. It seems to be that multisensory
		information processing is altered in migraine, too, but this aspects of migraine are strongly underex-
		plored, especially regarding pediatric migraine.
		In the present study performances in visual and audiovisual associative equivalence learning of
		the pediatric patients with migraine without aura (aged 7-17.5 years) were compared to those of
		age- and sex-matched controls.
		The application of audiovisual stimuli significantly facilitated associative pair learning in healthy
		children and adolescents, but not in pediatric migraine patients. Although the performances were
		not significant worse in pediatric migraineurs compared those of the controls but the multisensory
		gain is significantly reduced in these patients.
		The results of this study suggest that multisensory integration is altered not only in adult mi-
		graineurs but this dysfunction can be already observed in pediatric migraine patients, too.},
	year = {2024},
	pages = {198-198},
	orcid-numbers = {Eördegh, Gabriella/0000-0002-3707-3583; Braunitzer, Gábor/0000-0001-8983-5175; Tót, Kálmán/0000-0002-7641-7182; Kiss, Ádám/0000-0003-2597-7953}
}

@article{MTMT:34505540,
	title = {A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder},
	url = {https://m2.mtmt.hu/api/publication/34505540},
	author = {Nagy, Nikoletta and Pál, Margit and Nagy, Dóra and Bokor, Barbara Anna and Zimmermann, Aliz and Gellén, Balázs and Salamon, András and Sztriha, László and Klivényi, Péter and Széll, Márta},
	doi = {10.1186/s12887-023-04509-w},
	journal-iso = {BMC PEDIATR},
	journal = {BMC PEDIATRICS},
	volume = {24},
	unique-id = {34505540},
	issn = {1471-2431},
	abstract = {We aimed to elucidate the underlying disease in a Hungarian family, with only one affected family member, a 16-year-old male Hungarian patient, who developed global developmental delay, cognitive impairment, behavioral problems, short stature, intermittent headaches, recurrent dizziness, strabismus, hypermetropia, complex movement disorder and partial pituitary dysfunction. After years of detailed clinical investigations and careful pediatric care, the exact diagnosis of the patient and the cause of the disease was still unknown.We aimed to perform whole exome sequencing (WES) in order to investigate whether the affected patient is suffering from a rare monogenic disease.Using WES, we identified a novel, de novo frameshift variant (c.1902dupG, p.Ala636SerfsTer12) of the catenin beta-1 (CTNNB1) gene. Assessment of the novel CTNNB1 variant suggested that it is a likely pathogenic one and raised the diagnosis of CTNNB1 neurodevelopmental disorder (OMIM 615,075).Our manuscript may contribute to the better understanding of the genetic background of the recently discovered CTNNB1 neurodevelopmental disorder and raise awareness among clinicians and geneticists. The affected Hungarian family demonstrates that based on the results of the clinical workup is difficult to establish the diagnosis and high-throughput genetic screening may help to solve these complex cases.},
	keywords = {High-throughput; Whole exome sequencing; neurodevelopmental disorder; CTNNB1; Truncating},
	year = {2024},
	eissn = {1471-2431},
	orcid-numbers = {Salamon, András/0000-0002-9946-8230; Klivényi, Péter/0000-0002-5389-3266; Széll, Márta/0000-0002-0730-714X}
}

@article{MTMT:34502777,
	title = {The Apical Endocytic-Lysosomal Apparatus in CLCN5 Mutations with Phenotypic-Genotypic Correlations in Three Cases},
	url = {https://m2.mtmt.hu/api/publication/34502777},
	author = {Kalmár, Tibor and Jakab, Dániel and Maróti, Zoltán and Lakatos, Orsolya Judit and Vas, Tibor and Bereczki, Csaba and Iványi, Béla},
	doi = {10.3390/ijms25020966},
	journal-iso = {INT J MOL SCI},
	journal = {INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES},
	volume = {25},
	unique-id = {34502777},
	issn = {1661-6596},
	abstract = {Dent disease type 1 is characterized by pathogenic CLCN5 gene variants and impaired receptor-mediated endocytosis in proximal tubules. However, mutation-related abnormalities in proximal tubules have not yet been described. Here, we present three patients with CLCN5 alterations and distinct morphological changes of the apical endocytic-lysosomal apparatus. The proximal tubular ultrastructure was investigated in kidney biopsy samples of three boys genotyped for non-nephrotic proteinuria. Controls: seven patients with nephrotic-range glomerular proteinuria. The genotyping findings revealed an already-known missense mutation in one patient and hitherto undescribed frameshift variants in two patients. Low-molecular-weight proteinuria, focal global glomerulosclerosis, proximal tubular changes, and tubular calcium deposits characterized each case. Three subsets of proximal tubular cells were observed: those without any abnormality, those with aplasia of apical endocytic-lysosomal apparatus and shrinkage of cells, and those with hypoplasia of apical endocytic apparatus, accumulation of proteinaceous substance in dysmorphic lysosomes, and dysmorphic mitochondria. The distribution of subsets varied from patient to patient. In one patient with a frameshift variant, an oxidative stress-like injury of proximal tubular cells and podocytes accompanied the above-mentioned alterations. Focal aplasia/hypoplasia of apical endocytic apparatus and subsequent changes in cytoplasmic organelles characterized proximal tubules in the CLCN5 pathogenic variants.},
	year = {2024},
	eissn = {1422-0067},
	orcid-numbers = {Kalmár, Tibor/0000-0002-0419-2009; Maróti, Zoltán/0000-0002-0515-117X; Bereczki, Csaba/0000-0003-0091-3558}
}

@article{MTMT:34395398,
	title = {Role of the kisspeptin-KISS1R axis in the pathogenesis of chronic kidney disease and uremic cardiomyopathy},
	url = {https://m2.mtmt.hu/api/publication/34395398},
	author = {Dinh, Hoa and Kovács, Zsuzsanna and Kis, Merse and Kupecz, Klaudia and Sejben, Anita and Szűcs, Gergő and Márványkövi, Fanni and Siska, Andrea and Freiwan, Marah and Pósa, Szonja Polett and Galla, Zsolt and Ibos, Katalin Eszter and Bodnár, Éva and Lauber, Gülsüm Yilmaz and Goncalves, Ana Isabel Antunes and Acar, Eylem and Kriston, András and Kovács, Ferenc and Horváth, Péter and Bozsó, Zsolt and Tóth, Gábor and Földesi, Imre and Monostori, Péter and Cserni, Gábor and Podesser, Bruno K. and Lehoczki, Andrea Marianna and Pokreisz, Peter and Kiss, Attila and Dux, László and Csabafi, Krisztina and Sárközy, Márta},
	doi = {10.1007/s11357-023-01017-8},
	journal-iso = {GEROSCIENCE},
	journal = {GEROSCIENCE: OFFICIAL JOURNAL OF THE AMERICAN AGING ASSOCIATION (AGE)},
	volume = {46},
	unique-id = {34395398},
	issn = {2509-2715},
	abstract = {The prevalence of chronic kidney disease (CKD) is increasing globally, especially in elderly patients. Uremic cardiomyopathy is a common cardiovascular complication of CKD, characterized by left ventricular hypertrophy (LVH), diastolic dysfunction, and fibrosis. Kisspeptins and their receptor, KISS1R, exert a pivotal influence on kidney pathophysiology and modulate age-related pathologies across various organ systems. KISS1R agonists, including kisspeptin-13 (KP-13), hold promise as novel therapeutic agents within age-related biological processes and kidney-related disorders. Our investigation aimed to elucidate the impact of KP-13 on the trajectory of CKD and uremic cardiomyopathy. Male Wistar rats (300–350 g) were randomized into four groups: (I) sham-operated, (II) 5/6 nephrectomy-induced CKD, (III) CKD subjected to a low dose of KP-13 (intraperitoneal 13 µg/day), and (IV) CKD treated with a higher KP-13 dose (intraperitoneal 26 µg/day). Treatments were administered daily from week 3 for 10 days. After 13 weeks, KP-13 increased systemic blood pressure, accentuating diastolic dysfunction’s echocardiographic indicators and intensifying CKD-associated markers such as serum urea levels, glomerular hypertrophy, and tubular dilation. Notably, KP-13 did not exacerbate circulatory uremic toxin levels, renal inflammation, or fibrosis markers. In contrast, the higher KP-13 dose correlated with reduced posterior and anterior wall thickness, coupled with diminished cardiomyocyte cross-sectional areas and concurrent elevation of inflammatory ( Il6, Tnf ), fibrosis ( Col1 ), and apoptosis markers ( Bax/Bcl2 ) relative to the CKD group. In summary, KP-13’s influence on CKD and uremic cardiomyopathy encompassed heightened blood pressure and potentially activated inflammatory and apoptotic pathways in the left ventricle.},
	year = {2024},
	eissn = {2509-2723},
	pages = {2463-2488},
	orcid-numbers = {Kovács, Zsuzsanna/0000-0002-4197-4579; Sejben, Anita/0000-0002-9434-2989; Szűcs, Gergő/0000-0003-1874-2718; Márványkövi, Fanni/0000-0002-5114-1319; Pósa, Szonja Polett/0000-0002-7535-9689; Galla, Zsolt/0000-0002-9166-1212; Ibos, Katalin Eszter/0000-0001-5243-9945; Goncalves, Ana Isabel Antunes/0009-0009-3428-3321; Acar, Eylem/0000-0002-0599-6893; Kriston, András/0000-0001-8500-4315; Bozsó, Zsolt/0000-0002-5713-3096; Tóth, Gábor/0000-0002-3604-4385; Földesi, Imre/0000-0002-3329-8136; Monostori, Péter/0000-0003-3591-6054; Cserni, Gábor/0000-0003-1344-7744; Podesser, Bruno K./0000-0002-4641-7202; Lehoczki, Andrea Marianna/0000-0002-4285-7518; Pokreisz, Peter/0000-0003-2810-9000; Kiss, Attila/0000-0003-4652-1998; Dux, László/0000-0002-1270-1678; Csabafi, Krisztina/0000-0002-2008-7604; Sárközy, Márta/0000-0002-5929-2146}
}

@article{MTMT:34394136,
	title = {Chronic kidney disease may evoke anxiety by altering CRH expression in the amygdala and tryptophan metabolism in rats},
	url = {https://m2.mtmt.hu/api/publication/34394136},
	author = {Ibos, Katalin Eszter and Bodnár, Éva and Dinh, Hoa and Kis, Merse and Márványkövi, Fanni and Kovács, Zsuzsanna and Siska, Andrea and Földesi, Imre and Galla, Zsolt and Monostori, Péter and Szatmári, István and Simon, Péter and Sárközy, Márta and Csabafi, Krisztina},
	doi = {10.1007/s00424-023-02884-y},
	journal-iso = {PFLUG ARCH EUR J PHY},
	journal = {PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY},
	volume = {476},
	unique-id = {34394136},
	issn = {0031-6768},
	abstract = {Chronic kidney disease (CKD) is associated with anxiety; however, its exact mechanism is not well understood. Therefore, the aim of the present study was to assess the effect of moderate CKD on anxiety in rats. 5/6 nephrectomy was performed in male Wistar rats. 7 weeks after, anxiety-like behavior was assessed by elevated plus maze (EPM), open field (OF), and marble burying (MB) tests. At weeks 8 and 9, urinalysis was performed, and blood and amygdala samples were collected, respectively. In the amygdala, the gene expression of Avp and the gene and protein expression of Crh , Crhr1 , and Crhr2 were analyzed. Furthermore, the plasma concentration of corticosterone, uremic toxins, and tryptophan metabolites was measured by UHPLC-MS/MS. Laboratory tests confirmed the development of CKD. In the CKD group, the closed arm time increased; the central time and the total number of entries decreased in the EPM. There was a reduction in rearing, central distance and time in the OF, and fewer interactions with marbles were detected during MB. CKD evoked an upregulation of gene expression of Crh , Crhr1 , and Crhr2 , but not Avp , in the amygdala. However, there was no alteration in protein expression. In the CKD group, plasma concentrations of p-cresyl-sulfate, indoxyl-sulfate, kynurenine, kynurenic acid, 3-hydroxykynurenine, anthranilic acid, xanthurenic acid, 5-hydroxyindoleacetic acid, picolinic acid, and quinolinic acid increased. However, the levels of tryptophan, tryptamine, 5-hydroxytryptophan, serotonin, and tyrosine decreased. In conclusion, moderate CKD evoked anxiety-like behavior that might be mediated by the accumulation of uremic toxins and metabolites of the kynurenine pathway, but the contribution of the amygdalar CRH system to the development of anxiety seems to be negligible at this stage.},
	year = {2024},
	eissn = {1432-2013},
	pages = {179-196},
	orcid-numbers = {Ibos, Katalin Eszter/0000-0001-5243-9945; Dinh, Hoa/0000-0001-5812-715X; Márványkövi, Fanni/0000-0002-5114-1319; Kovács, Zsuzsanna/0000-0002-4197-4579; Földesi, Imre/0000-0002-3329-8136; Galla, Zsolt/0000-0002-9166-1212; Monostori, Péter/0000-0003-3591-6054; Szatmári, István/0000-0002-8571-5229; Sárközy, Márta/0000-0002-5929-2146; Csabafi, Krisztina/0000-0002-2008-7604}
}

@article{MTMT:34019210,
	title = {Validation and psychometric properties of the sense of coherence scale in a Hungarian child and adolescent sample},
	url = {https://m2.mtmt.hu/api/publication/34019210},
	author = {Rodrigues de Oliveira, Olney and Őri, Dorottya and Kiss, Enikő},
	doi = {10.1556/063.2023.00176},
	journal-iso = {HERJ},
	journal = {HUNGARIAN EDUCATIONAL RESEARCH JOURNAL (HERJ)},
	volume = {14},
	unique-id = {34019210},
	issn = {2062-9605},
	abstract = {Sense of coherence (SOC) is a relevant contributor and predictor of the individuals' mental and physical health. There are a number of studies about SOC, but only two validation articles of the sense of coherence scale (SOCS) were found on adolescents and none on children. The aim of this research was to validate the SOC scale in youth under 18. We hypothesized that younger children and children without psychiatric problems will have higher SOC than older ones, and children with psychiatric symptoms. We also wanted to examine the factor structure of both the 13 and the 29 item versions of the scale to study which is more valid in child and adolescent population. 199 children and 198 adolescents were included in the study; the mean age was 14.3 (SD 2.1) years. The sample included average youth from schools and youth under psychiatric treatment. Strength and Difficulties Questionnaire (SDQ) and Inventory of Life Quality (ILK) were used for validation of the SOCS. SOCS-13 was applied to compare SOC of children and adolescents. Children had higher SOC than adolescents in both samples. Males had higher SOC than females in children but not in adolescents. Psychiatric and behavioral symptoms were associated with a lower SOC regardless of age. Confirmatory factor analysis proved a three-factor structure model for both the 13 and the 28 item versions of the SOCS. The short form of the sense of coherence scale is valid and reliable to be used with children and adolescents from 10 to 18 years of age.},
	year = {2024},
	eissn = {2064-2199},
	pages = {99-113},
	orcid-numbers = {Rodrigues de Oliveira, Olney/0000-0001-5238-2053}
}

@article{MTMT:34757240,
	title = {Önsértés és mentális egészség gyermekek és serdülők körében a karantén alatt és után},
	url = {https://m2.mtmt.hu/api/publication/34757240},
	author = {Papp, Sándor Tamás and Kapornai, Krisztina and Zsombok, Krisztina},
	journal-iso = {GYERMEKORVOS TOVÁBBKÉPZÉS},
	journal = {GYERMEKORVOS TOVÁBBKÉPZÉS},
	volume = {22},
	unique-id = {34757240},
	issn = {1589-0309},
	year = {2023},
	pages = {296-299}
}