TY - JOUR AU - Medawar, Edgard AU - Djinbachian, Roupen AU - Crainic, Ioana Popescu AU - Safih, Widad AU - Battat, Robert AU - Mccurdy, Jeffrey AU - Lakatos, Péter László AU - von Renteln, Daniel TI - Serrated Polyps in Inflammatory Bowel Disease Indicate a Similar Risk of Metachronous Colorectal Neoplasia as in the General Population JF - DIGESTIVE DISEASES AND SCIENCES J2 - DIGEST DIS SCI VL - 69 PY - 2024 SP - Original Article Published: 03 May 2024 SN - 0163-2116 DO - 10.1007/s10620-024-08456-z UR - https://m2.mtmt.hu/api/publication/34834778 ID - 34834778 LA - English DB - MTMT ER - TY - JOUR AU - Illés, Anett AU - Pikó, Henriett AU - Árvai, Kristóf AU - Donka, Veronika AU - Szepesi, Olívia AU - Kósa, János AU - Lakatos, Péter AU - Beke, Artúr TI - Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing. JF - BMC MEDICAL GENOMICS J2 - BMC MED GENOMICS VL - 17 PY - 2024 IS - 1 PG - 11 SN - 1755-8794 DO - 10.1186/s12920-024-01873-z UR - https://m2.mtmt.hu/api/publication/34831433 ID - 34831433 AB - Premature ovarian insuffiency (POI) is one of the main cause behind infertility. The genetic analysis of POI should be part of the clinical diagnostics, as several genes have been implicated in the genetic background of it. The aim of our study was to analyse the genetic background of POI in a Hungarian cohort.The age of onset was between 15 and 39 years. All patients had the 46,XX karyotype and they were prescreened for the most frequent POI associated FMR1 premutation. To identify genetic alterations next-generation sequencing (NGS) of 31 genes which were previously associated to POI were carried out in 48 unrelated patients from Hungary.Monogenic defect was identified in 16.7% (8 of 48) and a potential genetic risk factor was found in 29.2% (14 of 48) and susceptible oligogenic effect was described in 12.5% (6 of 48) of women with POI using the customized targeted panel sequencing. The genetic analysis identified 8 heterozygous damaging and 4 potentially damaging variants in POI-associated genes. Further 10 potential genetic risk factors were detected in seven genes, from which EIF2B and GALT were the most frequent. These variants were related to 15 genes: AIRE, ATM, DACH2, DAZL, EIF2B2, EIF2B4, FMR1, GALT, GDF9, HS6ST2, LHCGR, NOBOX, POLG, USP9X and XPNPEP2. In six cases, two or three coexisting damaging mutations and risk variants were identified.POI is characterized by heterogenous phenotypic features with complex genetic background that contains increasing number of genes. Deleterious variants, which were detected in our cohort, related to gonadal development (oogenesis and folliculogenesis), meiosis and DNA repair, hormonal signaling, immune function, and metabolism which were previously associated with the POI phenotype. This is the first genetic epidemiology study targeting POI associated genes in Hungary. The frequency of variants in different POI associated genes were similar to the literature, except EIF2B and GALT. Both of these genes potential risk factor were detected which could influence the phenotype, although it is unlikely that they can be responsible for the development of the disease by themselves. Advances of sequencing technologies make it possible to aid diagnostics of POI Since individual patients show high phenotypic variance because of the complex network controlling human folliculogenesis. Comprehensive NGS screening by widening the scope to genes which were previously linked to infertility may facilitate more accurate, quicker and cheaper genetic diagnoses for POI. The investigation of patient's genotype could support clinical decision-making process and pave the way for future clinical trials and therapies. LA - English DB - MTMT ER - TY - JOUR AU - Gadó, Klára AU - Tabák, Ádám AU - Vingender, István AU - Domján, Gyula AU - Bednárikné Dörnyei, Gabriella TI - Treatment of type 2 diabetes mellitus in the elderly – Special considerations JF - PHYSIOLOGY INTERNATIONAL J2 - PHYSIOL INT VL - in press PY - 2024 IS - in press PG - 22 SN - 2498-602X DO - 10.1556/2060.2024.00317 UR - https://m2.mtmt.hu/api/publication/34826851 ID - 34826851 AB - Type 2 diabetes is a frequent chronic disease. Given its strong positive association with older age, it is a significant public health issue in elderly populations. Furthermore, the aging of the population, driven by increasing life expectancy in high and middle-income countries leads to an increasing prevalence of diabetes. LA - English DB - MTMT ER - TY - JOUR AU - Abonyi-Tóth, Zsolt AU - Rokszin, György Aurél AU - Bajcsayné Fábián, Ibolya AU - Kiss, Zoltán AU - Jermendy, György AU - Kempler, Péter AU - Lengyel, Csaba Attila AU - Wittmann, István AU - Molnár, Gergő Attila AU - Sütő, Gábor TI - Incident Cancer Risk in Patients with Incident Type 2 Diabetes Mellitus in Hungary (Part 1) JF - CANCERS J2 - CANCERS VL - 16 PY - 2024 IS - 9 SN - 2072-6694 DO - 10.3390/cancers16091745 UR - https://m2.mtmt.hu/api/publication/34825468 ID - 34825468 N1 - * Megosztott szerzőség AB - Abstract (1) Background: Patients with type 2 diabetes mellitus (T2DM) are at higher risk of cancer but how these two diseases associate is still debated. The goal of this study was the assessment of the overall incidence of cancer among patients with newly diagnosed T2DM in Hungary. (2) Methods: A nationwide, retrospective, longitudinal study was performed using a Hungarian database. After exclusion of cases of age < 18 years, with gestational diabetes, with polycystic ovary syndrome, and with type 1 and prevalent type 2 diabetes mellitus, the incident T2DM (approx. 50,000 cases yearly) and for comparison, the diabetes-free Hungarian adult population (approx. 7,000,000 cases yearly) was included in the study. The primary endpoints were the overall and site-specific incidence and annual percentage change of the incidence of cancer in both populations. (3) Results: The overall incidence of cancer in patients amounted to 29.4/1000 and 6.6/1000 with or without T2DM, respectively, and the OR (95%CI) of cancer of the T2DM group was 4.32 (4.14–4.53), p < 0.0001. The risk of having cancer was age dependent. The incidence of cancer was declining in the non-diabetic but was unchanged in the T2DM population. The average lag time of diagnosing cancer after the detection of T2DM was 3.86 months. (4) Conclusions: Incident T2DM is associated with a significantly higher overall risk of incident cancer, with a reverse correlation of age. Newly registered T2DM patients were suggested to be screened for cancer within 6 months. LA - English DB - MTMT ER - TY - JOUR AU - Turai, Péter István AU - Igaz, Péter TI - Sex- and Ethnicity-related Differences in Pheochromocytoma/Paraganglioma JF - JOURNAL OF THE ENDOCRINE SOCIETY J2 - J ENDOCRINE SOC VL - 8 PY - 2024 IS - 6 PG - 2 SN - 2472-1972 DO - 10.1210/jendso/bvae070 UR - https://m2.mtmt.hu/api/publication/34823646 ID - 34823646 LA - English DB - MTMT ER - TY - CHAP AU - Ledó, Nóra ED - Takács, István TI - Vesebetegség várandós asszonynál T2 - Belgyógyászat 1 tantárgyi jegyzet PB - Semmelweis Kiadó CY - Budapest SN - 9789633316122 PY - 2024 SP - 404 EP - 409 PG - 6 UR - https://m2.mtmt.hu/api/publication/34818298 ID - 34818298 LA - Hungarian DB - MTMT ER - TY - CHAP AU - Ledó, Nóra ED - Takács, István TI - Húgyúti infekciók és obstrukciók T2 - Belgyógyászat 1 tantárgyi jegyzet PB - Semmelweis Kiadó CY - Budapest SN - 9789633316122 PY - 2024 SP - 397 EP - 403 PG - 7 UR - https://m2.mtmt.hu/api/publication/34818282 ID - 34818282 LA - Hungarian DB - MTMT ER - TY - CHAP AU - Studinger, Péter ED - Takács, István TI - A vese vascularis betegségei T2 - Belgyógyászat 1 tantárgyi jegyzet PB - Semmelweis Kiadó CY - Budapest SN - 9789633316122 PY - 2024 SP - 376 EP - 379 PG - 4 UR - https://m2.mtmt.hu/api/publication/34818270 ID - 34818270 LA - Hungarian DB - MTMT ER - TY - CHAP AU - Pethő, Ákos ED - Takács, István TI - Veseelváltozások szisztémás betegségekben T2 - Belgyógyászat 1 tantárgyi jegyzet PB - Semmelweis Kiadó CY - Budapest SN - 9789633316122 PY - 2024 SP - 369 EP - 375 PG - 7 UR - https://m2.mtmt.hu/api/publication/34818261 ID - 34818261 LA - Hungarian DB - MTMT ER - TY - CHAP AU - Studinger, Péter ED - Takács, István TI - Tubulointerstitialis vesebetegségek T2 - Belgyógyászat 1 tantárgyi jegyzet PB - Semmelweis Kiadó CY - Budapest SN - 9789633316122 PY - 2024 SP - 364 EP - 368 PG - 5 UR - https://m2.mtmt.hu/api/publication/34818246 ID - 34818246 LA - Hungarian DB - MTMT ER -