Extended partial laryngectomy with functional preservation using the rotational crico-thyrotracheopexy.

Objectives: Glottic tumors with infiltration of the anterior/posterior commissure, and lesions with subglottic, cricoid, or cricoarytenoid joint infiltration have been highly controversial in the past, from the perspective of oncological safety. Although conservation laryngeal resection options exist, most are limited by the extent of resection proscribed by the technique and the postoperative functional results. Oncologically speaking, extended vertical hemilaryngectomy is often the optimal solution. However, limited reconstruction methods often compel total laryngectomy. Methods: Eight patients with vocal fold malignancy, which infiltrated the anterior and sometimes the posterior commissure and with subglottic extension and resultant uni/bilateral vocal fold motion impairment, were treated by single stage extended vertical partial laryngectomy with rotational crico-thyrotracheopexy as a functional reconstruction of the laryngeal framework. Patients were evaluated with objective and subjective function tests. Results: Histologic examination demonstrated tumor-free margins in every case. Definitive decannulation was successful in all cases within 2 weeks. All patients had a stable and adequate airway during follow-up and reported socially acceptable voice. Oral feeding was possible in seven patients. Conclusion: Rotational crico-thyrotracheopexy, as a single stage reconstruction technique, is based on well-vascularized, readily available, appropriately shaped local tissues, without significant donor site morbidity or need for long-term stenting to reconstruct large laryngeal defects after extended vertical hemilaryngectomy for advanced unilateral glottic tumors and is applicable even with supra/subglottic invasion or infiltration of the contralateral vocal fold. An adequate airway can be achieved with socially acceptable voice and safe swallowing without compromising oncologic reliability. Level of Evidence: 4 (retrospective case series review).

A new method of preoperative assessment of correct electrode array alignment based on post-operative measurements in a cochlear implanted cohort.

PURPOSE: During cochlear implantation surgery, a range of complications may occur such as tip fold-over. We recently developed a method to estimate the insertion orientation of the electrode array. The aim of the study was to determine the optimal angle of orientation in a cohort of cochlear implanted patients. METHODS: On eighty-five CT scans (80 uncomplicated insertions and 5 cases with tip fold-over), location of the electrode array's Insertion Guide (IG), Orientation marker (OM) and two easily identifiable landmarks (the round window (RW) and the incus short process (ISP)) were manually marked. The angle enclosed by ISP-RW line and the Cochlear™ Slim Modiolar electrode array's OM line determined the electrode array insertion angle. RESULTS: The average insertion angle was 45.0-47.2° ± 10.4-12° SD and was validated with 98% confidence interval. Based on the measurements obtained, patients' sex and age had no impact on the size of this angle. Although the angles of the tip fold-over cases (44.9°, 46.9°, 34.2°, 54.3°, 55.9°) fell within this average range, the further it diverted from the average it increased the likelihood for tip fold-over. CONCLUSION: Electrode array insertion in the individually calculated angle relative to the visible incus short process provides a useful guide for the surgeon when aiming for the optimal angle, and potentially enhances good surgical outcomes. Our results show that factors other than the orientation angle may additionally contribute to failures in implantation when the Slim Modiolar electrode is used.

Detection of "tip fold-over" of the cochlear implant electrode array with transimpedance matrix (TIM) measurement / Az elektródasor visszatekeredésének kimutatása transzimpedanciamátrix (TIM)-vizsgálattal cochlearis implantátumban.

Összefoglaló. Bevezetés: Az elmúlt években a cochlearis implantátum a súlyos halláskárosodás vagy a teljes siketség rutinszeru és hatékony kezelési eszközévé vált. Korunk egyik leggyakrabban használt és leghatékonyabb újítása a cochlearis implantációban a perimodiolaris vékony elektródasorok alkalmazása. A cochlea középtengelyét, a modiolust szorosan ölelo atraumatikus elektródasor igen meggyozo eredménnyel bizonyítja népszeruségét, mind az elektrofiziológiai mérések során, mind az akusztikus hallás megorzése terén nyújtott teljesítményével. Ugyanakkor igen kevés publikáció írja le az elektródasor nem megfelelo helyzetének elofordulási gyakoriságát, pontosabban a visszatekeredését a csúcsi szakaszon. Célkituzés: Tanulmányunk célja olyan szoftveres technika, a transzimpedancia-mátrix (TIM) beillesztése a rutin intraoperatív elektrofiziológiai mérési metodikák közé, amely képes objektív diagnosztikai lehetoséget biztosítani ahhoz, hogy korán felismerhessük a cochlearis implantátum elektródasorán keletkezett hurkot. Módszer: Hároméves kisgyermek kétoldali cochlearis implantációját követoen, posztoperatív röntgenfelvételen a bal oldalon az elektródasor megfelelo pozíciója figyelheto meg, míg a jobb oldalon az intracochlearis elektródasor végének visszatekeredése igazolódott. Képalkotó vizsgálatot követoen elektrofiziológiai metódusként TIM-vizsgálatot végeztünk. Az eljárás során a méroeszköz a kijelölt stimuláló elektródákon 1 V nagyságrendu feszültséget közöl állandó áramerosség mellett a cochlea közel eso struktúrái felé. Méroelektródák segítségével regisztráljuk a szöveteken mérheto feszültséget, majd transzimpedancia-mátrixszá alakítjuk a mért értékeket. Eredmények: Az elektródasor visszatekeredése, amelyet korábban radiológiai vizsgálattal igazoltunk, az objektív elektrofiziológiai mérések segítségével is jól azonosítható, és a vizsgálatok szoros párhuzamot mutatnak. Következtetés: Az elektródák helyzetének megjelenítésére szolgáló standard radiológiai képalkotási technikák kiegészíthetok, illetve kiválthatók egyszeruen elvégezheto, hatékony, objektív elektrofiziológiai vizsgálatokkal. Intraoperatíven, még a sebzárás elott kimutatható, ha az elektródasor nem megfelelo helyzetbe került, így csökkenthetjük a radiológiai vizsgálatokkal járó sugárterhelés és annak finanszírozási problémáját. Orv Hetil. 2021; 162(25): 988-996. INTRODUCTION: In recent years, the cochlear implant has become a routine and effective treatment tool for severe hearing loss and total deafness. One of the commonly used and effective innovations of our time in cochlear implantation is the perimodiolar thin electrode array. The atraumatic electrode array, which closely embraces the central axis of the cochlea (modiolus), has served its popularity with very convincing results, with its performance in both electrophysiological measurements and acoustic hearing preservation. However, very few publications describe the frequency of improper positioning of the electrode array, which is known as 'tip fold-over'. OBJECTIVE: The aim of our study is to incorporate a software technique, the transimpedance matrix (TIM), into routine intraoperative electrophysiological measurement methodologies to provide a potential objective diagnostic opportunity for early detection of tip fold-over of the electrode array. METHOD: Following bilateral cochlear implantation of a three-year-old child, postoperative radiography showed the correct position of the electrode array on the left side, while tip fold-over of the intracochlear electrode array was detected on the right side. Following imaging, a TIM study was performed as an electrophysiological method. During the procedure, the measuring device transmits a voltage of the order of 1 V to the nearby structures of the cochlea at a constant current at the designated stimulus electrodes. Measuring electrodes were used to register the voltage measured on the tissues, and then converted into a TIM. RESULTS: Electrode tip fold-over was previously diagnosed by radiological examination, while it can also be diagnosed by objective electrophysiological measurements now, and these two tests correlate well. CONCLUSION: Standard radiological imaging techniques for electrode positioning can be supplemented or replaced by easy-to-perform, effective objective electrophysiological studies. Tip fold-over can be detected intraoperatively, even before wound closure, if the electrode array is in the wrong position, thus reducing the radiation exposure associated with radiological examinations as well as reducing relevant costs. Orv Hetil. 2021; 162(25): 988-996.

A new method to determine the optimal orientation of Slim Modiolar cochlear implant electrode array insertion.

BACKGROUND AND PURPOSE: Our goal was to determine the optimal orientation of insertion of the Slim Modiolar electrode and develop an easy-to-use method to aid implantation surgery. In some instances, the electrode arrays cannot be inserted in their full length. This can lead to buckling, interscalar dislocation or tip fold-over. In our opinion, one of the possible reasons of tip fold-over is unfavourable orientation of the electrode array. Our goal was to determine the optimal orientation of the Slim Modiolar electrode array relative to clear surgical landmarks and present our method in one specified case. METHODS: For the measurement, we used the preoperative CT scan of one of our cochlear implant patients. These images were processed by an open source and free image visualization software: 3D Slicer. In the first step we marked the tip of the incus short process and then created the cochlear view. On this view we drew two straight lines: the first line represented the insertion guide of the cochlear implant and the second line was the orientation marker (winglet). We determined the angle enclosed by winglet and the line between the tip of the incus short process and the cross-section of previously created two lines. For the calculation we used a self-made python code. RESULTS: The result of our algorithm for the angle was 46.6055°. To validate this result, we segmented, from the CT scan, the auditory ossicles and the membranaceous labyrinth. From this segmentation we generated a 3D reconstruction. On the 3D view, we can see the position of the previous lines relative to the anatomical structures. After this we rotated the 3D model together with the lines so that the insertion guide forms a dot. In this view, the angle was measured with ImageJ and the result was 46.599°. CONCLUSION: We found that our method is easy, fast, and time-efficient. The surgery can be planned individually for each patient, based on their routine preoperative CT scan of the temporal bone, and the implantation procedure can be made safer. In the future we plan to use this method for all cochlear implantation surgeries, where the Slim Modiolar electrode is used.

A novel intraoperative imaging tool to follow the cochlear implant electrode array insertion dynamics / Új mutéti képalkotó lehetoség a belsofül-implantátum elektródasorának dinamikus helyzetmeghatározására.

Összefoglaló. Bevezetés: A cochlearis implantátum egy mutétileg behelyezett elektromos eszköz, amely az akusztikus hanghullámokat elektromos jelekké alakítja, közvetlenül a hallóideget stimulálja, így segíti a súlyos fokú hallássérüléssel vagy teljes hallásvesztéssel élok életét. Cochlearis implantációt követoen a legjobb rehabilitációs eredmény elérésének technikai feltétele többek között az esetre szabott elektródaválasztás és az elektródasor teljes, kontrollált, szövodménymentes bejuttatása a scala tympaniba, miközben a cochlea belso struktúrája a leheto legkisebb mértékben sérül. A rutin intraoperatív elektrofiziológiai tesztek fontos információt adnak a készülék muködoképességérol és a hallóideg stimulációjáról, azonban nem hagyatkozhatunk rájuk az elektródasor cochleán belüli helyzetének igazolásában. Mivel elofordulhat, hogy a rendelkezésre álló elektrofiziológiai vizsgálatok eredménye megfelelo, és mégis rendellenes helyzetbe kerül az elektróda, az arany standardot a képalkotó vizsgálatok jelentik. Módszer: Közleményünkben egy modern, hibrid muto által nyújtott technológiai háttér új alkalmazási területét mutatjuk be. Szimultán kétoldali cochlearis implantációt végeztünk Cochlear Nucleus Slim Modiolar típusú perimodiolaris elektródasorral, a belso fül fejlodési rendellenességével rendelkezo betegen. Az intraoperatív képalkotást Siemens Artis pheno C-karos robot digitális szubtrakciós angiográfiás rendszer biztosította valós ideju átvilágító és volumentomográfiás funkcióval. Eredmények: Az intraoperatív képalkotás által dinamikusan követheto az elektródasor bevezetésének folyamata, ellenorizheto az elektródasor statikus helyzete, így kiváltható a rutinnak számító posztoperatív képalkotó vizsgálat. A rendellenes helyzetbe kerülo elektródasor pozíciója egy ülésben korrigálható, az újból bevezetheto, így elkerülheto az újabb altatással járó, bizonytalan kimenetelu revíziós mutét. Következtetés: A hibrid muto jól kontrollált, minimálisan invazív eljárások elvégzését biztosítja. Különösen a hallószerv fejlodési rendellenessége vagy egyéb, az elektródának a cochleába vezetését nehezíto rendellenesség esetén javasolt a mutoi képalkotó diagnosztika. Orv Hetil. 2021; 162(22): 878-883. INTRODUCTION: The cochlear implant is a surgically inserted electrical device that converts acoustic sound waves into electrical signals to stimulate the cochlear nerve, thus helps the rehabilitation of people with severe to total hearing loss. One of the most important technical conditions for achieving the best rehabilitation result after cochlear implantation is the personalized choice of electrodes. Additionally, it is vital that there is a complete, controlled, uncomplicated delivery of the electrode array to the scala tympani while minimizing damage to the inner structures of the cochlea. Routine electrophysiological tests provide important information about device functionality and auditory nerve stimulation. However, they probably do not show an abnormal position of the electrode array within the cochlea. Thus, imaging studies remain the gold standard. METHOD: In our paper, we present a novel application field of the modern technological background provided by a hybrid operating room. Simultaneous bilateral cochlear implantation was performed with cochlear implants with perimodiolar electrode array (Nucleus Slim Modiolar) in a patient with cochlear malformation. Intraoperative imaging was provided by a Siemens Artis pheno C-arm robot digital subtraction angiography system with real-time fluoroscopy and volume tomography function. RESULTS: Intraoperative imaging ensures dynamic follow-up of the introduction and static determination of the position of the electrode array and replaces routine postoperative imaging. If the electrode array was inserted in an abnormal position, the revision can be performed in the same sitting. Also, the revision surgery with a potential risk of uncertain outcome, alongside additional anaesthesia, can be prevented. CONCLUSION: The hybrid operating room ensures that well-controlled, minimally invasive procedures are performed. Intraoperative imaging can be imperative in malformed cochleae and conditions that may complicate electrode insertion. Orv Hetil. 2021; 162(22): 878-883.

Application field of VOXEL-MAN Tempo 3D virtual reality simulator in surgery of pars petrosa of temporal bone / A VOXEL-MAN Tempo 3D virtuálisvalóság-szimulátor alkalmazása a sziklacsont sebészetében.

Összefoglaló. Bevezetés: Az emberi sziklacsont a halántékcsont része, egy bonyolult és változatos anatómiai felépítésu struktúra. A sziklacsonton végzett beavatkozások elott, a mutéti szövodmények megelozése érdekében, nélkülözhetetlen a biztos anatómiai tudás és kézügyesség megszerzése, valamint az egyes mutéti lépések és mozdulatok begyakorlása. A VOXEL-MAN Tempo 3D fül-orr-gégészeti szimulátor a virtuális valóság és a robotika alkalmazásával nyújt gyakorlási lehetoséget. Célkituzés: A Szegedi Tudományegyetem 2019-ben VOXEL-MAN fül-orr-gégészeti szimulátort helyezett üzembe az Orvosi Készségfejlesztési Központban. A cikk fül-orr-gégész szakorvos szerzoi a VOXEL-MAN Tempo szimulátor megismerését követoen bemutatják a készüléket, és megfogalmazzák a szimulátorral végzett beavatkozásokkal szemben támasztott igényüket. Módszer: A szerzok a megfogalmazott szempontoknak megfeleloen értékelik a VOXEL-MAN Tempo szimulátort, és meghatározzák, milyen szerepet szánnak neki a gyakorlati képzésben. Eredmények: A szimulátor virtuálisan, mégis valósághuen mutatja meg a sziklacsont anatómiai viszonyait, a fontos anatómiai struktúrák valós térbeli elhelyezkedését és egymástól, illetve a sebészi eszköztol mért távolságát. A rendszer lehetové teszi a fülmutétek valósághu elvégzését (kétkezes csontmunka fúróval és szívóval, vérzés szimulálása) taktilis visszacsatolással. Az egy- vagy kétkezes feladatokkal fejleszthetjük a sebészi készségeket. A fülmutétek csontmunkája reprodukálható módon elvégezheto valódi beteg halántékcsontjáról készített rutin, nagy felbontású komputertomográfiás vizsgálat anyagából. Következtetés: Tapasztalataink alapján a szimulátor kiválóan alkalmas az egyes mutéti lépesek begyakorlására. A jövoben fontos szerepet szánunk a virtuális rendszernek a fül-orr-gégészeti graduális és a fülsebészeti posztgraduális képzésben. Orv Hetil. 2021; 162(16): 623-628. INTRODUCTION: The pars petrosa of the human temporal bone is a structure of complex and diverse anatomy. Prior to surgical interventions, in order to prevent surgical complications, it is essential to acquire sound anatomical knowledge and dexterity as well as to practice each surgical step and movement. The VOXEL-MAN Tempo 3D simulator uses virtual reality and robotics to provide an opportunity to practice. OBJECTIVE: In 2019, the University of Szeged installed a VOXEL-MAN Virtual Reality simulator at the Medical Skills Development Center. After learning about the VOXEL-MAN Tempo simulator, the authors present the device and articulate their need for interventions with the simulator. METHOD: The VOXEL-MAN Tempo simulator is evaluated according to the formulated criteria and the role assigned to it in the practical training is determined. RESULTS: The simulator shows the anatomical structure of the temporal bone virtually, yet realistically, the real spatial location of the important anatomical structures and their distance from each other and from the surgical instrument. The system allows ear surgery to be performed realistically (two-handed bone work with a drill and suction) with tactile (vibration) and visual (bleeding) feedback. One can improve surgical skills with one- or two-handed tasks. Bone work in ear surgeries can be performed in a reproducible manner from routine, high-resolution computer tomography of the temporal bone of a real patient. CONCLUSION: With reference to our experience, the simulator is excellent for practicing each surgical step. In the future, we intend to use this virtual system in undergraduate and postgraduate training in otolaryngology. Orv Hetil. 2021; 162(16): 623-628.

Tracheostomy during novel corona virus pandemic. / Tracheotomia az új típusú koronavírus okozta járvány idején(A COVID-19-pandémia orvosszakmai kérdései).

Recently, 6 percent of COVID-19 patients required prolonged mechanical ventilation due to severe respiratory failure. Early tracheostomy prevents the risk of postintubation upper airway stenosis. In the pandemic, all surgical interventions that generate aerosol increase the risk of contamination of the medical staff, for which reason the "traditional" indications of tracheostomy have to be revised. Authors present their recommendations based on international experiences. Orv Hetil. 2020; 161(19): 767-770.

Review of electrode placement with the Slim Modiolar Electrode: identification and management.

Background - Several cochlear implant recipients experience functionality loss due to electrode array mal-positioning. The application of delicate perimodiolar electrodes has many electrophysiological advantages, however, these profiles may be more susceptible to tip fold-over. Purpose - The prompt realization of such complication following electrode insertion would be auspicious, thus the electrode could be possibly repositioned during the same surgical procedure. Methods - The authors present three tip fold-over cases, experienced throughout their work with Slim Modiolar Electrode implants. Implantations were performed through the round window approach, by a skilled surgeon. Standard intraoperative measurements (electric integrity, neural response telemetry, and electrical stapedial reflex threshold tests) were successfully completed. The electrode position was controlled by conventional radiography on the first postoperative day. Results - Tip fold-over was not tactilely sensated by the surgeon. Our subjects revealed normal intraoperative telemetry measurements, only the postoperative imaging showed the tip fold-over. Due to the emerging adverse perception of constant beeping noise, the device was replaced by a CI512 implant after 6 months in one case. In the two remaining cases, the electrode array was reloaded into a back-up sheath, and reinserted into the scala tympani successfully through an extended round window approach. Discussion - Future additional studies using the spread of excitation or electric field imaging may improve test reliability. As all of these measurements are still carried out following electrode insertion, real-time identification, unfortunately, remains questionable. Conclusion - Tip fold-over could be reliably identified by conventional X-ray imaging. By contrast, intraoperative electrophysiology was not sufficiently sensitive to reveal it.

[Dimensions of the human temporal bone that are relevant to cochlear implantation surgery in infants and toddlers. A clinical-radiological study]. / Az emberi halántékcsontnak a csecsemo- és kisgyermekkori cochlearis implantáció szempontjából kiemelkedoen fontos dimenziói. Klinikoradiológiai vizsgálat.

Introduction: Early cochlear implantation enables prelingual deaf individuals to become full members of the hearing society. Although early diagnostics are widely accessible and enable early rehabilitation, implant surgery often may be delayed due to a candidate's young age. Aim: The authors' objectives were to determine the anatomical parameters of the pediatric and adult temporal bone that are relevant to cochlear implantation and to ascertain the differences between them in order to assess whether the anatomical differences could influence the surgical technique and the timing of surgery. Method: Along with a survey of the literature, findings from the authors own cochlear implantees were assessed with respect to the most relevant dimensions of the internal electronic package, including the stimulating electrode of the cochlear implant, by measuring the squama of the temporal bone, the mastoid cavity and the facial recess on high resolution computed tomographic images. Results: The skull and the overlying soft tissues proved to be thinner and the mastoid cavity was less developed in children than in adults, while no significant changes were noted in the size of the facial recess. Conclusions: It is recommended to choose modern, thin implants that do not require sinking the implant package into a bone bed. Less bone work in infants and children enables excellent visualization of the round window through the underdeveloped mastoid cavity, which makes the procedure less time-consuming and minimally invasive. Indeed, a young age should alert ear surgeons to be cautious, but no higher risk of injury to important structures is predicted for young subjects than those that might occur in adults. Orv Hetil. 2019; 160(24): 936-943.

[The distance from the modiolus of perimodiolar electrode arrays of cochlear implants. A radiological study to evaluate the difference in perimodiolar properties]. / Cochlearis implantátumok különbözo, elore görbített elektródasorainak elhelyezkedése a cochlea tengelyéhez viszonyítva. Radiológiai vizsgálat a perimodiolaritás mértékének megállapítására.

Introduction: The cochlear implants vary in electrodes in terms of length, width and proximity to the modiolus. The precurved electrode arrays could be placed closer to the modiolus and the ganglion cells compared to straight electrodes. The two types of electrode arrays provide different electrophysiological characteristics; however, proximity to the modiolus may lead to better hearing performance. Aim: To investigate our preliminary electrophysiological results that suggest that the Slim Modiolar (SM) electrode array has the potential to elicit similar neural responses as the thicker perimodiolar (Contour Advance, CA) electrode from the same generation of implants. Method: Subjects that were implanted either with CA or SM electrodes were enrolled, 54 consecutive subjects in each group. All electrodes were introduced into the cochlea via the round window. The diameter of the largest turn of the electrode arrays within the cochlea was measured through postoperative radiography. The energy consumption parameters were estimated 2 months after implantation. Results: The mean of the largest turns of the arrays within the cochlea was 4.2 ± 0.5 mm in the SM group and 4.9 ± 1.1 mm in the CA group. 'Auto power' was 44.81 ± 5.05% and 50.85 ± 8.35% with SM and CA, respectively. Estimated energy consumption was lower with SM. The differences were statistically significant. Conclusion: Our measurements for a large cohort in each group suggest that the SM electrode array takes a significantly closer position to the modiolus than the CA. This finding supports our earlier electrophysiological result and indicates better performance abilities. Orv Hetil. 2019; 160(31): 1216-1222.

[Surgical treatment of laryngocele]. / Laryngokeleeseteink mutéti megoldásai.

Laryngocele is a unilateral or bilateral dilation of the saccule or appendix of the laryngeal ventricle. It is a benign lesion, often without any specific symptom, diagnosed unintentionally, but it can cause life-threatening airway obstruction, needing emergency tracheotomy. The authors present three cases of laryngocele and the related surgical methods. Orv Hetil. 2019; 160(31): 1235-1240.

[Endoscopic ultra dream pulse laser surgery of laryngomalacia. Our experiences gained during the introduction of the method in Hungary]. / A laryngomalacia endoszkópos ultrapulzációs-lézeres (ultra dream pulse) sebészete. A módszer hazai bevezetése során szerzett tapasztalataink.

INTRODUCTION: Congenital stridor and dyspnoe are caused by laryngomalacia in most cases. AIM: In this article we present a new, surgical method for treating severe laryngomalacia in patients under the age of 1, where ultrapulsated (UDP) laser beam is used for supraglottoplasty. Ultra dream pulse laser creates lesser thermical side damage in the tissue, therefore the risk of postoperative laryngeal oedema and scarring is lower. METHOD: We present 10 cases and the endoscopic UDP-laser surgery of patients under the age of 1 with severe laryngomalacia. RESULTS: After the surgery the stridorous symptoms disappeared, and there was no evidence of postoperative laryngeal oedema, there was no need for reoperation or tracheotomy in any of the cases. CONCLUSION: UDP-laser surgery of laryngomalacia is proven to be a safe and effective surgial modality. During the follow up visits we experienced neither recurrence of stridor nor laryngeal scarring. Orv Hetil. 2017; 158(33): 1288-1292.

Identification of Two Novel LAMP2 Gene Mutations in Danon Disease.

BACKGROUND: Danon disease is a rare X-linked inherited disorder characterized by massive left ventricular hypertrophy, skeletal muscle dystrophy, and mental retardation. The disease is caused by mutations in the LAMP2 gene encoding for lysosome-associated membrane protein-2. METHODS: Two young male patients with hypertrophic cardiomyopathy, characterized by marked, concentric left ventricular hypertrophy, elevated levels of creatine kinase, and manifest limb-girdle muscular dystrophy in 1 case, were investigated. Genetic screening included direct sequencing of the whole coding sequence of the LAMP2 gene. RESULTS: Genetic analysis identified 2 novel LAMP2 gene mutations. In Family A, a G-A transition (c.962G > A) leading to a nonsense mutation at codon 321 (p.Trp321Ter), and in Family B, a one-nucleotide insertion (c.973insC) leading to a full frame-shift (p.Pro324+24X) was detected in exon 8 of the LAMP2 gene. Family screening identified 8 mutation carriers, with 4 nonpenetrant cases and 3 additional, probably affected family members without DNA diagnosis. The cardiac phenotype was hypertrophic cardiomyopathy in all cases, including female mutation carriers. Five disease-related deaths occurred in the families, at an average age of 33 ± 16 years, which was clearly lower in male than in female patients (28 ± 7 vs 42 ± 25 years). A high prevalence of arrhythmias or conduction abnormalities was also observed. CONCLUSIONS: The reported 2 novel LAMP2 gene mutation carrier families, one of them being one of the largest reported to date, highlight the malignant clinical course of Danon disease, characterized by a high rate of disease-related death at an early age and a high prevalence of arrhythmias or conduction abnormalities.

Short-term beat-to-beat variability of the QT interval is increased and correlates with parameters of left ventricular hypertrophy in patients with hypertrophic cardiomyopathy.

Stratification models for the prediction of sudden cardiac death (SCD) are inappropriate in patients with hypertrophic cardiomyopathy (HCM). We investigated conventional electrocardiogram (ECG) repolarization parameters and the beat-to-beat short-term QT interval variability (QT-STV), a new parameter of proarrhythmic risk, in 37 patients with HCM (21 males, average age 48 ± 15 years). Resting ECGs were recorded for 5 min and the frequency corrected QT interval (QTc), QT dispersion (QTd), beat-to-beat short-term variability of QT interval (QT-STV), and the duration of terminal part of T waves (Tpeak-Tend) were calculated. While all repolarization parameters were significantly increased in patients with HCM compared with the controls (QTc, 488 ± 61 vs. 434 ± 23 ms, p < 0.0001; QT-STV, 4.5 ± 2 vs. 3.2 ± 1 ms, p = 0.0002; Tpeak-Tend duration, 107 ± 27 vs. 91 ± 10 ms, p = 0.0015; QTd, 47 ± 17 vs. 34 ± 9 ms, p = 0.0002), QT-STV had the highest relative increase (+41%). QT-STV also showed the best correlation with indices of left ventricular (LV) hypertrophy, i.e., maximal LV wall thickness normalized for body surface area (BSA; r = 0.461, p = 0.004) or LV mass (determined by cardiac magnetic resonance imaging) normalized for BSA (r = 0.455, p = 0.015). In summary, beat-to-beat QT-STV showed the most marked increase in patients with HCM and may represent a novel marker that merits further testing for increased SCD risk in HCM.

[More than 50 years' experience in the treatment of patients with congenital heart disease at a Hungarian university hospital]. / Több mint 50 év tapasztalat a congenitalis szívbetegek ellátásában egy magyar egyetemi központban. A CSONGRÁD Regiszter alapadatai.

Improvements in surgical techniques and technical advancements have made possible for several patients with congenital heart disease to grow up to adulthood. It has been decided to create a registry for their more precise treatment. This registry now includes 2770 patients with data on 3043 operations, with almost 30 different diagnoses. The purpose of this paper is to review the facts and the basics leading to the establishment of this registry.

Multidisciplinary management of cervical neuroblastoma in infants.

OBJECTIVES: Neuroblastoma is the most common malignancy in infancy, it is a histologically and genetically heterogeneous tumor, the therapy and outcome of which is influenced by age, histological variant and genetic background as well. METHODS: We present two consecutive infant patients with neuroblastoma of the neck discussing the etiology, the diagnosis and the surgical and oncological treatment of the tumor, which was observed in a relatively rare manifestation in the head-neck region. RESULTS: Our first patient (age: 5.5 months) was MYCN (v-myc myelocytomatosis viral related oncogene, neuroblastoma derived) negative, INSS (International Neuroblastoma Staging System) Stage 3 and INRGSS (International Neuroblastoma Risk Group Staging System) Stage 3 because of the contralateral lymph node involvement while the complete gross resection of the primary tumor mass was feasible. The patient is tumor free after three years of follow-up. Our second patient (age: 5 months) was MYCN negative, INSS Stage 2 and INRGSS Stage 1, as both the primary tumor and the ipsilateral lymph nodes were totally removed via a modified radical neck dissection. The patient is tumor free after three years of follow-up. CONCLUSION: For MYCN negative patients, especially in early age, the prognosis of neuroblastoma is good, surgical resection and chemotherapy together is an adequate treatment protocol (as in our two patients). While MYCN-amplified patients require a combined and aggressive treatment with surgery, chemotherapy, radiotherapy, and immunotherapy to be able to obtain a favorable survival rate according to the literature.