Orv Hetil. 2022; 163(One particular) 3-11.Összefoglaló. Bevezetés Any sokszínű tünetspektrummal jellemezhető DiGeorge-szindróma leggyakoribb oka any 22q11.2-microdeletio; incidenciája 1/4000-6000. Célkitűzés Any DiGeorge-szindrómára gyanús hazai betegcsoport 22q11.2-microdeletióval társult tüneteinek/panaszainak részletes feltérképezése, any betegség incidenciájának becslése és egy magyarországi 22q11.2-microdeletiós szindróma regiszter létrehozása. Módszer August 2005 és 2019 között any Semmelweis Egyetem 2. Gyermekgyógyászati Klinikájára DiGeorge-szindróma gyanújával beutalt és a new Veleszületett Rendellenességek Országos Nyilvántartása által regisztrált DiGeorge-szindrómás betegek adatait dolgoztuk fel. The fenotípusjegyeket a new Humán Fenotípus Ontológia kódrendszer alapján határoztuk megabites. Eredmények Any vizsgálatba 114, igazolt DiGeorge-szindrómás és 113, FISH-vizsgálattal microdeletiót nem hordozó, delaware klinikailag a new DiGeorge-szindróma tüneteit mutató beteget vontunk always be. A new diagnózis felállításakor a new betegek átlagéletkora Your five,Eighty-eight (± In search of,66 SD) év voltage, eddig any betegek Fifty four,9%-a legalább egy szívműtéten átesett. for your increased possibility of DiGeorge malady. Regarding second-tier testing, marketplace analysis genome hybridization or multiplex ligation-dependent probe boosting are suggested to distinguish atypical microdeletions. Children along with DiGeorge affliction demand special care within perinatal rigorous facilities including pediatric cardiology as well as hereditary counselling. Orv Hetil. 2022; 163(A single) 21-30. Endoscopic backbone surgical procedure within the cervicothoracic spinal column is actually creating carried on curiosity about a rapidly changing field. The actual experts existing Four methods for completely endoscopic cervical backbone surgical procedure (One particular) rear cervical unilateral laminectomy as well as bilateral decompression, (2) posterior cervical foraminotomy, (Three) anterior cervical discectomy, along with (Four) anterior transcorporal discectomy. Two processes for fully endoscopic thoracic backbone surgical procedure can also be shown VEGFR inhibitor (A single) posterior thoracic unilateral laminectomy and also bilateral decompression as well as (A couple of) transforaminal thoracic endoscopic discectomy and foraminotomy. We all describe Half a dozen distinct surgical approaches and evaluate the appropriate literature about each and every approach. The clinical application of endoscopic back surgery strategies changed in the last 4 decades. Current data suggest comparable benefits with processes and possibly fewer issues and faster recuperation whenever these methods are utilized within the cervical and also thoracic spine. Considerable variability is out there of these approaches depending on the goal of tube decompression, main decompression, as well as the site with the pathology. Every single endoscopic strategy within the cervicothoracic backbone has its own complex nuances, outcomes, benefits, and drawbacks, generating totally endoscopic cervicothoracic spinal column surgical procedure an exciting and also developing field.Each and every endoscopic strategy in the cervicothoracic back have their own technological technicalities, final results, advantages, and drawbacks, generating entirely endoscopic cervicothoracic back surgical treatment a thrilling and developing discipline.Uniportal endoscopic lumbar interbody mix aspires to offer the bony unification of 2 lumbar portions via cage placement utilizing complete vertebrae endoscopy. Endoscopic combination may change foraminal height and also compact disk height, improve place, and reduce equity smooth damaged tissues throughout the attachment associated with an interbody cage. Your surgical procedure is performed under constant sprinkler system with Hepatocyte nuclear factor regular saline with an optical endoscopic lens close to the specific disk portion. A couple of main subtypes involving uniportal endoscopic fusion are currently explained in the novels. Many of us generally beta-granule biogenesis move these into facet-preserving as well as facet-sacrificing endoscopic lumbar interbody fusions. We’ve classified these people uniportal facet-preserving trans-Kambin endoscopic mix and uniportal facet-sacrificing posterolateral transforaminal lumbar interbody fusion.