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Introduction: Cystic fibrosis (CF) is one of the most common monogenic diseases. Genetic testing is becoming increasingly reasoned to establish or confirm the diagnosis by detecting abnormal mutations., Objective: In order to develop a diagnostic strategy for cystic fibrosis and to facilitate mutation-specific treatments, the genetic revision of the Hungarian Cystic Fibrosis Registry was performed., Method: 582 patients' data and samples were used for the revision (528 originally included in the register and 54 received during the revision). First we reviewed the patients' existing genetic findings. Wherever necessary, a comprehensive three-level genetic analysis of the CFTR gene was done., Results: According to our study, of the 528 patients present in the Registry, 395 (74.8%) had 2 pathogenic CFTR mutations. We completed and corrected 94 patients' previously incomplete genetic status. 73 different pathogenic variants were described, in which 1 aberration was not previously reported (c.3130G>A). The 5 most common mutations were: F508del (68.4%); CFTRdele2,3 (3.7%); G542X (3.2%); 2184insA (2.7%); W1282X (2.3%). Based on genotype and age, in Hungary 211 patients are eligible for the available lumacaftor-ivacaftor combination therapy, and 361 patients for the ivacaftor-tezacaftor-elexacaftor therapy., Conclusion: Due to the revision, we could identify the patients who can benefit from mutation-specific drugs instead of symptomatic therapy. In addition, the data obtained have been used to map the Hungarian distribution of mutations in the CFTR gene, which will help to develop a diagnostic strategy. Orv Hetil. 2022; 163(51): 2052-2059.

Összefoglaló. Bevezetés és célkitűzés: A szerzők a posztoperatív fájdalom és a sebgyógyulás tekintetében prospektív vizsgálattal hasonlították össze gyermekeken (67 fő, 1-12 év) a hagyományos hidegeszközzel történő extracapsularis tonsillectomiát (23 fő) a microdebriderrel (23 fő) és a coblatorral (21 fő) végzett intracapsularis tonsillotomiával. Módszer: A vizsgálatok a betegek által kitöltött kérdőívek, valamint prospektív klinikai adatgyűjtés alapján történtek. Eredmények: Az intracapsularis tonsillotomia gyógyulási idejét 50%-kal rövidebbnek találtuk, és az első 13 napban szignifikánsan kevesebb fájdalommal és fájdalomcsillapító igénnyel járt, mint az extracapsularis tonsillectomia eseteiben. A tonsillotomiás csoporton belül egyedül a posztoperatív első napi fájdalom tekintetében észleltünk szignifikáns különbséget a két különböző módszer között a coblator javára (p<0,05). A vizsgálatokat retrospektív áttekintéssel is kiegészítettük, 4 évi gyermek- (1-15 éves) tonsillaműtéten átesett beteganyagunk (1487 fő) eredményeinek feldolgozásával. Tonsillectomia (1253 fő) után 7,7%-os utóvérzési arányt észleltünk, műtéti vérzéscsillapításra 1,3%-ban volt szükség. Tonsillotomia esetén (234 fő) 0,43%-os utóvérzési arányt regisztráltunk. Ebben a csoportban vérzés miatt nem, de 2 esetben ismételt obstrukciót okozó hypertrophia, 1 esetben góctünetek miatt reoperációt végeztünk (1,28%). Következtetés: Eredményeiket a szerzők a nemzetközi ajánlások tükrében elemezték. Az intracapsularis tonsillotomia kisebb fájdalommal, kisebb vérzéssel és kisebb megterheléssel jár. A közösségbe való aktív visszatérés akár egy hét után lehetséges a tonsillectomiára jellemző 3 héttel szemben, mindez jelentős szocioökonómiai előnyökkel járhat. Orv Hetil. 2020; 161(45): 1920-1926., Introduction and Objective: Examining operated children in this prostective study inditerscompared (67 pts, 1-12 yrs) the extracapsular tonsillectomy with conventional cold-knife (23 pts) to extracapsular tonsillotomy with microdebrider (23 pts) and coblator (21 pts) for postoperative pain and wound-healing disorders., Method: The study was based on patient-completed questionnaires as well as prospective clinical data collection., Results: The recovery time of intracapsular tonsillotomy was found less than 50%, with less pain than in the cases of extracapsular tonsillectomy. Postoperative pain was significantly less in the tonsillototomy group than the tonsillectomy group. Within the tonsillotomy group, a significant difference was observed between the two different methods in favor of the coblator for only the postoperative first-day pain. The studies were supplemented with a retrospective review by processing the 4 yrs results of their pediatric (1-15-yrs) patients who underwent tonsillectomy (1487 pts). After tonsillectomy (1253 pts), a postoperative bleeding rate of 7.7% was observed, and surgical hemostasis was required in 1.3%. In the case of tonsillotomy (234 pts), a postoperative bleeding rate of 0.43% was recorded. In this group, reoperation was not performed due to bleeding, whereas it was neccesary in 2 cases due to hypertrophy causing repeated obstruction, in 1 case due by virtue of focal symptomes (1.28%)., Conclusion: Our results were analyzed on the basis of international recommendations. Intracapsular tonsillotomy is associated with less pain, less bleeding, and less strain. Active return to the community is possible after up to a week compared to the 3 weeks typical of tonsillectomy, all of which can have significant socioeconomic benefits. Orv Hetil. 2020; 161(45): 1920-1926.

Introduction: The oncological treatment may damage ovarian function. To prevent this, it is possible to cryopreserve the ovarian tissue, and to keep the samples for long-term storage. The frozen-thawed tissue could be retransplanted after chemo- or radiotherapy., Aim: The aim of our study was to examine the effect of cryopreservation on the viability of ovarian tissue., Method: We analyzed the survival of frozen-thawed donated ovarian tissues. The quality of the follicles and hormone production in fresh and frozen-thawed samples were compared., Results: Histological analysis showed that the number of viable follicles was reduced by 23% in the frozen-thawed samples. However, viable follicles still presented in post thawing ovarian tissues. Maximal estradiol production in frozen-thawed tissues was 908 pg/ml and hormone production was similar to the control tissues. The maximal progesterone production was 1.95 ng/ml post thawing, but these values were lower than the progesterone production of fresh tissues., Conclusions: The method of ovarian cryopreservation used in our laboratory was able preserve the viability of follicles in frozen-thawed ovarian tissues. Orv. Hetil., 2016, 157(49), 1947-1954.