X-ray Doses in Relation to Body Mass, Indication, and Substrate During Pediatric Electrophysiological Procedures on the Heart.

The main goal of this study is to determine typical values of dose area product (DAP) and difference in the effective dose (ED) for pediatric electrophysiological procedures on the heart in relation to patient body mass. This paper also shows DAP and ED in relation to the indication, the arrhythmia substrate determined during the procedure, and in relation to the reason for using radiation. Organ doses are described as well. The subjects were children who have had an electrophysiological study done with a 3D mapping system and X-rays in two healthcare institutions. Children with congenital heart defects were excluded. There were 347 children included. Significant difference was noted between mass groups, while heavier children had higher values of DAP and ED. Median DAP in different mass groups was between 4.00 (IQR 1.00-14.00) to 26.33 (IQR 8.77-140.84) cGycm2. ED median was between 23.18 (IQR 5.21-67.70) to 60.96 (IQR 20.64-394.04) µSv. The highest DAP and ED in relation to indication were noted for premature ventricular contractions and ventricular tachycardia-27.65 (IQR 12.91-75.0) cGycm2 and 100.73 (IQR 53.31-258.10) µSv, respectively. In arrhythmia substrate groups, results were similar, and the highest doses were in ventricular substrates with DAP 29.62 (IQR 13.81-76.0) cGycm2 and ED 103.15 (IQR 60.78-266.99) µSv. Pediatric electrophysiology can be done with very low doses of X-rays when using 3D mapping systems compared to X-rays-based electrophysiology, or when compared to pediatric interventional cardiology or adult electrophysiology.

A 4-year study of bovine reproductive hormones that are induced by pharmaceuticals and appear as steroid estrogenic pollutants in the resulting slurry, using in vitro and instrumental analytical methods.

The main objective of the research was to study the environmental "price" of the large-scale, milk production from a rarely known perspective, from the mapping of the estrogenic footprint (the amount of oestrus-inducer hormonal products, and the generated endoestrogens) in the resulting slurry in a dairy cow farm. These micropollutants are endocrine-disrupting chemicals (EDCs) and can be dangerous to the normal reproductive functions even at ng/kg concentration. One of them, 17ß-estradiol, has a 20,000 times stronger estrogenic effect than bisphenol-A, a widely known EDC of industrial origin. While most studies on EDCs are short-term and/or laboratory based, this study is longitudinal and field-based. We sampled the slurry pool on a quarterly basis between 2017 and 2020. Our purpose was testing the estrogenic effects using a dual approach. As an effect-based, holistic method, we developed and used the YES (yeast estrogen screen) test employing the genetically modified Saccharomyces cerevisiae BJ3505 strain which contains human estrogenic receptor. For testing exact molecules, UHPLC-FLD was used. Our study points out that slurry contains a growing amount of EDCs with the risk of penetrating into the soil, crops and the food chain. Considering the Green Chemistry concept, the most benign ways to prevent of the pollution of the slurry is choosing appropriate oestrus-inducing veterinary pharmaceuticals (OIVPs) and the separation of the solid and liquid parts with adequate treatment methods. To our knowledge, this is the first paper on the adaptation of the YES test for medicine and slurry samples, extending its applicability. The adapted YES test turned out to be a sensitive, robust and reliable method for testing samples with potential estrogenic effect. Our dual approach was successful in evaluating the estrogenic effect of the slurry samples.

Case series of catheter-based arrhythmia ablation in 13 pregnant women.

BACKGROUND: Catheter ablation is a rarely used procedure to treat arrhythmias during pregnancy. HYPOTHESIS: In the case of maternal arrhythmia during pregnancy, zero-fluoroscopic catheter ablation is preferable to medical treatment. METHODS: Between April 2014 and September 2021, we examined the demographic data, procedural parameters, and fetal and maternal outcomes in pregnant women undergoing ablation at the Gottsegen National Cardiovascular Center and University of Pécs Medical School, Heart Institute. RESULTS: Fourteen procedures (14 electrophysiological studies [EPS], 13 ablations) performed on 13 pregnant women (age 30.3 ± 5.2 years, primipara n = 6) were studied. During EPS, 12 patients had inducible arrhythmias. Atrial tachycardia was confirmed in three, atrioventricular re-entry tachycardia via manifest accessory pathway (AP) in three, and via concealed AP in one case. Atrioventricular nodal re-entry tachycardia was confirmed in three and sustained monomorphic ventricular tachycardia in two cases. Eleven radiofrequency ablation (84.6%) and two cryoablation (15.4%) were performed. The electroanatomical mapping system was used in all cases. Transseptal puncture was performed in two cases (15.4%) due to left lateral APs. The mean procedure time was 76.0±33.0 minutes. All procedures were performed without fluoroscopy. No complications occurred. During the follow-up, arrhythmia-free survival was achieved in all cases, but in two patients, we used antiarrhythmic drugs (AADs) to achieve it. APGAR score was within the normal range in all cases [median (interquartile range), 9.0/10.0 (9.0-10.0/9.3-10.0)]. CONCLUSIONS: Zero-fluoroscopic catheter ablation was an effective and safe treatment option for our 13 pregnant patients. Catheter ablation may have less side effects on fetal development than the use of AADs during pregnancy.

Examination of effects of indoor fires on building structures and people.

The scientific study of the harmful effects of indoor fires on building structures and on the environment is a top issue today. Indoor fires frequently occur all over the world. The goal of our research is to examine the effects of an average room fire on the survival possibility of a trapped person and on the building structure, taking into account features of the Eastern European architecture. First, a computational fluid dynamics (CFD) simulation was performed to examine the change of temperature, oxygen, and carbon monoxide concentration in a selected room in a vacant building used for military training. Based on the results, a 1:1 scale fire experiment was carried out with the parameters used in the simulation. The experiment was repeated once with the same settings. It was observed that without the intervention of firefighters, the temperature in the experiment could have rapidly reached 400 °C, as suggested by the simulation, which could have caused structural damage to the building. Furthermore, after 3 min the carbon monoxide concentration reached 400 ppm in both experiments and the simulation, which is a harmful level to people trapped inside the room. Also, in the experiment there was sufficient oxygen at the ground level with what people can survive 3 min.

The SIDECAR project: S-IcD registry in European paediatriC and young Adult patients with congenital heaRt defects.

AIMS: Subcutaneous-implantable cardiac defibrillators (S-ICDs) are used increasingly to prevent sudden cardiac death in young patients. This study was set up to gain insight in the indications for S-ICD, possible complications, and their predictors and follow-up results. METHODS AND RESULTS: A multicentre, observational, retrospective, non-randomized, standard-of-care registry on S-ICD outcome in young patients with congenital heart diseases (CHDs), inherited arrhythmias (IAs), idiopathic ventricular fibrillation (IVF), and cardiomyopathies (CMPs). Anthropometry was registered as well as implantation technique, mid-term device-related complications, and incidence of appropriate/inappropriate shocks (IASs). Data are reported as median (interquartile range) or mean ± standard deviation. Eighty-one patients (47% CMPs, 20% CHD, 21% IVF, and 12% IA), aged 15 (14-17) years, with body mass index (BMI) 21.8 ± 3.8 kg/m2, underwent S-ICD implantation (primary prevention in 59%). This was performed with two-incision technique in 81% and with a subcutaneous pocket in 59%. Shock and conditional zones were programmed at 250 (200-250) and 210 (180-240) b.p.m., respectively. No intraoperative complications occurred. Follow up was 19 (6-35) months: no defibrillation failure occurred, 17% of patients received appropriate shocks, 13% of patients received IAS (supraventricular tachycardias 40%, T-wave oversensing 40%, and non-cardiac oversensing 20%). Reprogramming, proper drug therapy, and surgical revision avoided further IAS. Complications requiring surgical revision occurred in 9% of patients, with higher risks in patients with three-incision procedures [hazard ratio (HR) 4.3, 95% confidence interval (95% CI) 0.5-34, P = 0.038] and BMI < 20 (HR 5.1, 95% CI 1-24, P = 0.031). CONCLUSION: This multicentre European paediatric registry showed good S-ICD efficacy and safety in young patients. Newer implantation techniques and BMI > 20 showed better outcome.

Out-of-hospital pediatric sudden cardiac arrest and inherited arrhythmia syndromes in Hungary. / Gyermekkori, kórházon kívüli hirtelen szívmegállás és öröklodo arrhythmiaszindrómák Magyarországon.

Összefoglaló. Bevezetés: A gyermekkori hirtelen szívmegállás ritka, de egy részük megelozheto lehetne. Célkituzés: Vizsgálatunk célja az volt, hogy a Magyarországon eloforduló, kórházon kívüli gyermekkori szívmegállás gyakoriságát és hátterében az öröklodo arrhythmiaszindrómák jelentoségét megbecsüljük. Módszer: Három megközelítést alkalmaztunk. Elemeztük 1) az Országos Mentoszolgálat 2012. január 1. és 2015. június 30. közötti eseteinek Utstein-adatlapjait, 2) az Országos Gyermekszív Központba hirtelen szívmegállás miatt 2000. január 1. és 2021. augusztus 11. között felvett, valamint 3) az öröklött arrhythmiaszindróma gyanúja miatt 2015. október 1. és 2021. augusztus 11. között gondozásba vett gyermekek adatait. Eredmények: 1) A vizsgált 3,5 év alatt 373 gyermekkori keringésmegálláshoz riasztották a mentoket. Az Utstein-adatlapok alapján vélhetoen 84 esetben (≈24/év) állhatott cardialis ok a háttérben. A reanimáció az esetek 20%-ában volt sikeres. 2) A vizsgált közel 21 évben 24 gyermek (≈1/év) került felvételre elozmény nélküli hirtelen szívmegállást követoen a tercier országos központba. Hátterükben 11/24 (46%) esetben öröklött arrhythmiaszindróma, 4/24 (16%) esetben strukturális szívbetegség igazolódott. 9/24 (38%) esetben az ok nem volt tisztázható. 3) A vizsgált közel 6 évben 73 gyermeknél (≈12/év) történt genetikai vizsgálat öröklodo arrhythmiaszindróma gyanúja miatt: tünetek nélküli kóros EKG: n = 23, családszurés: n = 21, syncope: n = 15, sikeres újraélesztést követoen: n = 14. Egyértelmu patológiás mutáció 29 (≈5/év), ismeretlen jelentoségu variáns 15 esetben igazolódott. Következtetés: Az Országos Mentoszolgálat adatai alapján Magyarországon évente kb. 20-25 gyermeknél következik be kórházon kívüli hirtelen szívmegállás. Ezen esetek körülbelül egyötödében sikeres az újraélesztés, és a túlélo betegek egyötöde gyógyul súlyos szövodmények, neurológiai károsodás nélkül és kerül az Országos Gyermekszív Központba további ellátásra (a gyermekkori szívmegállások 5%-a). Ezen betegek közel felénél utólag öröklött arrhythmiaszindróma igazolható. Öröklodo arrhythmiaszindróma miatt az országos központban gondozásba kerülo gyermekek egyötödét ismerik fel hirtelen szívmegállást követoen. Orv Hetil. 2022; 163(12): 473-477. INTRODUCTION: The incidence of pediatric out-of-hospital sudden cardiac arrest is low, but a part of them could be preventable. OBJECTIVE: Aim of our study was to assess the pediatric cardiac arrest in Hungary and the magnitude of inherited cardiac arrhythmias in the background. METHOD: Three methods were used. 1) Utstein data sheets of the National Ambulance Service between 01. 01. 2012 and 30. 06. 2015. 2) Records of admissions to the national tertiary pediatric heart centre, due to out-of-hospital pediatric sudden cardiac arrest between 01. 01. 2000 - 11. 08. 2021. and 3) Results of genetic testing in patients with suspicion of inherited arrhythmia syndromes between 01. 10. 2015 - 11. 08. 2021 were analysed retrospectively. RESULTS: 1) Ambulance was called to 373 paediatric cardiac arrests during the study period of 3.5 years. Primary cardiac origin was presumed in 84 cases (≈24/year) on the basis of Utstein data sheets. Reanimation was successful in 20%. 2) 24 children (≈1/year) were admitted to the national pediatric heart centre after out-of-hospital sudden cardiac arrest during the study period of 21 years. Inherited arrhythmia syndromes in 11/24 (46%), structural heart disease in 4/24 (16%) cases could be identified, but etiology remained unclear in the rest 9/24 (38%). 3) Suspicion of inherited arrhythmia syndrome emerged in 73 children in 6 years of the study (≈12/year) and it was based on pathological ECG: n = 23, family screening: n = 21, syncope: n = 15, successful reanimation: n = 14. Genetic testing revealed pathological variation in 29 cases (≈5/year), variant of unknown significance in 15 cases. CONCLUSION: 20-25 children have out-of-hospital cardiac arrest annually in Hungary based on data from the National Ambulance Service. Reanimation is successful in one fifth of the cases. One fifth of these surviving children had no severe complications and neurological deficit and they were admitted to the national pediatric heart centre for further diagnosis and treatment (5% of pediatric cardiac arrest). Inherited arrhythmia syndrome could be identified in the background in half of these admissions. One fifth of children checked up and followed for inherited arrhythmia syndrome in the national centre were diagnosed after sudden cardiac arrest. Orv Hetil. 2022; 163(12): 473-477.

Supraventricular tachycardias in neonates and infants: factors associated with fatal or near-fatal outcome.

Prognosis of supraventricular tachycardias in neonates and infants is thought to be excellent with rare fatal outcomes. Nevertheless, initial management can be challenging. The aim of this study was to perform a retrospective analysis in neonates/infants with non-pos-toperative supraventricular tachycardias regarding risk factors for clinical outcome and type of antiarrhythmic drug therapy. The data of 157 patients aged < 1 year who presented between 2000 and 2015 with symptomatic tachycardias were retrospectively reviewed. Pharmacological therapy was successful in 151 patients (96%); 1 patient (1%) required catheter ablation and 5 patients (3%) died (1 death linked to hemodynamical reasons after effective arrhythmia control). Serious complications following acute medical therapy occurred in 4 patients of survivors. Patients with complications or death had a lower bodyweight, more frequent intrauterine tachycardia, transplacental therapy, urgent caesarian section, higher PRISM II score, longer period to control tachycardia, more frequent proarrhythmia, and major adverse event-defined as life-threatening event without a documented new arrhythmia-compared to the group without complications. There was no significant difference between the groups regarding prematurity, structural heart disease, and type of tachycardia. Proarrhythmia occurred in 6 cases and was related to intravenous drug use with class IC antiarrhythmics in 3/6 cases, digoxin in 2/6 cases, and amiodarone in 1/6 cases. ECG signs of impending proarrhythmia without new-onset arrhythmia requiring cessation of therapy were detected in 6 patients.Conclusion: Although rare, non-post-operative supraventricular tachycardia in neonates and infants might be a serious disease. Acute intravenous pharmacological treatment to control tachycardia might pose a risk for fatal or near-fatal outcome. Detection of proarrhythmia related to class IC antiarrhythmics in neonates might be especially difficult and requires alertness. What is Known • Prognosis of supraventricular tachycardias in children are thought to be excellent with fatal outcomes being rare. • Mortality is increased in the very young and in those with structural heart disease. What is New • Complicated outcome of non-post-operative supraventricular tachycardias in neonates is associated with lower bodyweight, age, prenatal tachycardia, higher PRISM II score, longer period to control tachycardia, and proarrhythmia. • Detection of class IC proarrhythmic effect is especially difficult in neonates because of their narrow QRS and warrants alertness.

Frequency of syncope as a presenting symptom in channelopathies diagnosed in childhood. Can the multivariable EGSYS score unmask these children?

Pediatric syncope raises cardiac etiology concern as it might be the first sign of life-threatening arrhythmia syndromes. Our aim was to study the incidence of syncope as the presenting symptom in children with arrhythmia syndromes, and if known, warning signs are helpful to reveal the arrhythmic origin. All data on children with channelopathy was followed by a tertiary pediatric cardiac center between 2000 and 2018 and data were reviewed retrospectively. Forty-eight patients were enrolled, representing long QT syndrome (n = 39), catecholaminergic polymorphic ventricular tachycardia (n = 5), and Brugada syndrome (n = 4). Presenting symptoms were syncope in 13 cases [27%] (including 7 initially mislabeled as epilepsy) and sudden cardiac arrest (SCA) in 9 cases [19%]. In the rest of the group, the concern for arrhythmic etiology was raised by either an abnormal ECG during sports medicine screening (n = 13) [27%] or a positive family history of channelopathy (n = 13) [27%]. None of the patients presenting with SCA had a prior syncopal history. Six patients presenting with syncope and afterward treated with ICD had an appropriate shock. Description of witnessed syncope was available in eight out of thirteen children presenting with syncope. Multivariable EGSYS score suggested cardiac origin (≥ 3 points) in 7 out of 8 (88%) patients.Conclusions: Syncope was a relatively uncommon presenting symptom of channelopathies in this sample and did not always precede sudden cardiac arrests. However, we found that multivariable EGSYS score can identify syncope of arrhythmic origin, raising suspicion for pediatric channelopathies even in patients previously misdiagnosed with epilepsy. What is known: • Cardiac syncope is rare in children but can be the first sign of a potentially fatal primary arrhythmia syndrome and is frequently misdiagnosed as atypical/therapy-resistant epilepsy. • Multivariate EGSYS score is effective to diagnose cardiac syncope in adults. What is new: • Cardiac syncope as a presenting symptom is not common in children with cardiac channelopathies and is not often present before sudden cardiac arrest. • Multivariable EGSYS score might identify cardiac syncope in children with a hereditary and secondary channelopathy.

Recommendations from the Association for European Paediatric and Congenital Cardiology for training in diagnostic and interventional electrophysiology.

The field of electrophysiology (EP) in paediatric cardiology patients and adults with congenital heart disease is complex and rapidly growing. The current recommendations for diagnostic and invasive electrophysiology of the working group for Cardiac Dysrhythmias and Electrophysiology of the Association for European Paediatric and Congenital Cardiology acknowledges the diveristy of European countries and centers. These training recommendations can be fulfilled in a manageable period of time, without compromising the quality of training required to become an expert in the field of paediatric and congenital EP and are for trainees undergoing or having completed accredited paediatric cardiologist fellowship. Three levels of expertise, the training for General paediatric cardiology EP, for non-invasive EP and invasive EP have been defined. This Association for European EP curriculum describes the theoretical and practicsal knowledge in clinical EP; catheter ablation, cardiac implantable electronic devices, inherited arrhythmias and arrhythmias in adults with congenital heart defects for the 3 levels of expertise.

Impaired cytoplasmic domain interactions cause co-assembly defect and loss of function in the p.Glu293Lys KNCJ2 variant isolated from an Andersen-Tawil syndrome patient.

AIMS: Subunit interactions at the cytoplasmic domain interface (CD-I) have recently been shown to control gating in inward rectifier potassium channels. Here we report the novel KCNJ2 variant p.Glu293Lys that has been found in a patient with Andersen-Tawil syndrome type 1 (ATS1), causing amino acid substitution at the CD-I of the inward rectifier potassium channel subunit Kir2.1. Neither has the role of Glu293 in gating control been investigated nor has a pathogenic variant been described at this position. This study aimed to assess the involvement of Glu293 in CD-I subunit interactions and to establish the pathogenic role of the p.Glu293Lys variant in ATS1. METHODS AND RESULTS: The p.Glu293Lys variant produced no current in homomeric form and showed dominant-negative effect over wild-type (WT) subunits. Immunocytochemical labelling showed the p.Glu293Lys subunits to distribute in the subsarcolemmal space. Salt bridge prediction indicated the presence of an intersubunit salt bridge network at the CD-I of Kir2.1, with the involvement of Glu293. Subunit interactions were studied by the NanoLuc® Binary Technology (NanoBiT) split reporter assay. Reporter constructs carrying NanoBiT tags on the intracellular termini produced no bioluminescent signal above background with the p.Glu293Lys variant in homomeric configuration and significantly reduced signals in cells co-expressing WT and p.Glu293Lys subunits simultaneously. Extracellularly presented reporter tags, however, generated comparable bioluminescent signals with heteromeric WT and p.Glu293Lys subunits and with homomeric WT channels. CONCLUSIONS: Loss of function and dominant-negative effect confirm the causative role of p.Glu293Lys in ATS1. Co-assembly of Kir2.1 subunits is impaired in homomeric channels consisting of p.Glu293Lys subunits and is partially rescued in heteromeric complexes of WT and p.Glu293Lys Kir2.1 variants. These data point to an important role of Glu293 in mediating subunit assembly, as well as in gating of Kir2.1 channels.

Atrioventricular Nodal Reentrant Tachycardia in Patients With Congenital Heart Disease: Outcome After Catheter Ablation.

BACKGROUND: The relationship of atrioventricular nodal reentrant tachycardia to congenital heart disease (CHD) and the outcome of catheter ablation in this population have not been studied adequately. METHODS AND RESULTS: A multicenter retrospective study was performed on patients with CHD who had atrioventricular nodal reentrant tachycardia and were treated with catheter ablation. There were 109 patients (61 women), aged 22.1±13.4 years. The majority, 86 of 109 (79%), had CHD resulting in right heart pressure or volume overload. Patients were divided into 2 groups: group A (n=51) with complex CHD and group B (n=58) with simple CHD. There were no significant differences between groups in patients' growth parameters, use of 3-dimensional imaging, and type of ablation (radiofrequency versus cryoablation). Procedure times (251±117 versus 174±94 minutes; P=0.0006) and fluoroscopy times (median 20.8 versus 16.6 minutes; P=0.037) were longer in group A versus group B. There were significant differences between groups in the acute success of ablation (82% versus 97%; P=0.04), risk of atrioventricular block (14 versus 0%; P=0.004), and need for chronic pacing (10% versus 0%; P=0.008). There was no permanent atrioventricular block in patients who underwent cryoablation. After 3.2±2.7 years of follow-up, long-term success was 86% in group A and 100% in group B (P=0.004). CONCLUSIONS: Atrioventricular nodal reentrant tachycardia can complicate the course of patients with CHD. This study demonstrates that the outcome of catheter ablation is favorable in patients with simple CHD. Patients with complex CHD have increased risk of procedural failure and atrioventricular block.

Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations.

Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, facial dysmorphism, episodic hypoglycemia, and neurological symptoms. A morphological hallmark of TS1 is syndactyly, present in all cases. TS1 is caused by the canonical p.Gly406Arg mutation in the alternatively spliced exon 8A in the CACNA1C gene, encoding for the main cardiac L-type calcium channel. A variant case of TS1 is reported. The proband had intermittent fetal bradycardia with heart rate of 72 bpm. On the first day of life bradycardia due to 2:1 atrioventricular (AV) block and marked QTc prolongation of 600 ms was noted. On medical therapy with propranolol and mexiletine 1:1 AV conduction returned with QTc prolongation of 470-580 ms. The patient lacked other extracardiac manifestations, most importantly syndactyly, neurological complications or autism. On genetic analysis, the canonical TS1 causing mutation, p.Gly406Arg in exon 8A of the CACNA1C gene was detected. The CACNA1C p.Gly406Arg variant was not present in the parents, but was detected in different DNA samples of the index patient. Our case highlight further phenotypic variability in TS. Most importantly, it underlines that the lack of syndactyly does not exclude the presence of a TS1 genotype. © 2017 Wiley Periodicals, Inc.

Ictal asystole: A systematic review.

OBJECTIVE: To comprehensively analyze ictal asystole (IA) on a large number of subjects. METHODS: We performed a systematic review of case report studies of patients diagnosed with IA (1983-2016). Each included case was characterized with respect to patient history, IA seizure characteristics, diagnostic workup, and therapy. In addition, comparative analyses were also carried out: two alignments were developed based on the delay between epilepsy onset and IA onset ("new-onset" if <1 year, "late-onset" if ≥1 year) and asystole duration (asystole was "very prolonged" if lasted >30 s). RESULTS: One hundred fifty-seven cases were included. All patients had focal epilepsy. In 7% of cases IA developed during a secondary generalized tonic-clonic seizure. Both the seizure-onset zone and the focal seizure activity at asystole beginning were usually temporal (p < 0.001 and p = 0.001, respectively) and were lateralized to the left hemisphere in 62% (p = 0.005 and p = 0.05, respectively). Asystole duration was 18 ± 14 s (mean±SD) (range 3-96 s); 73% of patients had late-onset, 27% had new-onset IA. Compared to late-onset IA, new-onset IA was associated with female gender (p = 0.023), preexisting heart condition (p = 0.014), focal seizure activity at asystole beginning (p = 0.012), normal neuroimaging (p = 0.013), normal interictal EEG (p < 0.001), auditory aura (p = 0.012), and drug-responsive epilepsy (p < 0.001). "Very prolonged" asystole was associated with secondary generalized tonic-clonic seizures (p = 0.003) and tended to occur in extratemporal lobe seizures (p = 0.074). No IA-related death was reported. SIGNIFICANCE: Characteristics considered to be typical of IA (focal, left temporal seizures appearing on grounds of a long-lasting, intractable epilepsy) seem only partially legitimate. We suggest that in new-onset IA, female gender and a preexisting heart condition could serve as predispositions in an otherwise benign epilepsy. We speculate that in late-onset IA, male-predominant changes in neuronal networks in chronic, intractable epilepsy and an accompanying autonomic dysregulation serve as facilitating factors.

Identification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen-Tawil syndrome.

Loss-of-function mutations of the KCNJ2 gene encoding for the inward rectifier potassium channel subunit Kir2.1 cause Andersen-Tawil Syndrome (ATS), a rare genetic disorder characterised by periodic paralysis, ventricular arrhythmias, and dysmorphic features. Clinical manifestations of the disease appear to vary greatly with the nature of mutation, therefore, functional characterisation of ATS-causing mutations is of clinical importance. In this study, we describe the identification and functional analysis of a novel KCNJ2 mutation, Val302del, identified in a patient with ATS. Heterologously expressed wild type (WT) and Val302del mutant alleles showed similar subcellular distribution of the Kir2.1 protein with high intensity labelling from the membrane region, demonstrating normal membrane trafficking of the Val302del Kir2.1 variant. Cells transfected with the WT allele displayed a robust current with strong inward rectification, while no current above background was detected in cells expressing the Val302del Kir2.1 subunit. Co-transfection of CHO cells with the WT and the Val302del Kir2.1 revealed a dose-dependent inhibitory effect of the Val302del Kir2.1 mutant subunit on WT Kir2.1 currents. These observations indicate that the WT and the Val302del mutant subunits co-assemble in the cell membrane and that the mutation affects potassium conductivity and (or) gating of the WT/Val302del heteromeric Kir2.1 channels.

Nonequilibrium critical dynamics of the two-dimensional Ising model quenched from a correlated initial state.

The universality class, even the order of the transition, of the two-dimensional Ising model depends on the range and the symmetry of the interactions (Onsager model, Baxter-Wu model, Turban model, etc.), but the critical temperature is generally the same due to self-duality. Here we consider a sudden change in the form of the interaction and study the nonequilibrium critical dynamical properties of the nearest-neighbor model. The relaxation of the magnetization and the decay of the autocorrelation function are found to display a power law behavior with characteristic exponents that depend on the universality class of the initial state.

Transcatheter ablation of arrhythmias associated with congenital heart disease.

The improvement of surgical techniques resulted in significant life prolongation of many young patients with congenital heart disease (CHD). However, as these patients reach adulthood, their risk for late complications associated with surgery is also increased. One of the most difficult challenges associated with CHD is the high incidence of cardiac arrhythmias that arise from either the myocardial substrate created by abnormal physiology (pressure/volume changes, septal patches, and suture lines) or the presence of surgical scar. Catheter ablation is proven to be effective in treating atrial and ventricular arrhythmias in structurally normal hearts, and has also been used to treat arrhythmias in adults with congenital heart disease. In this review we provide an overview about diagnostic challenges, mapping and ablation techniques and outcome of patients undergoing transcatheter ablation procedures.

[Values of carbohydrate-deficient transferrin after chemical exposure in the workplace]. / Szénhidrátszegény transzferrinvizsgálat eredményei munkahelyi vegyszer-expozíció után.

UNLABELLED: Carbohydrate-deficient transferrin (CDT) examinations have been used with those people who regularly consume more than 60 gr. of alcohol in a day, especially in cases of medical insurance. In these cases the CDT provides information even 2-3 weeks later. AIM OF THE STUDY: In adequate literature there are not many informations concerning the CDT values in individuals using chemicals. This is why these cases are interesting for demonstration. CASE REPORT: In the first case the examination of CDT was carried out one month after using the chemical material -- nitro-based lacquer -- and its value was increased. In the other case an agricultural man worked on a tractor spreading plant-protecting chemicals. Six months after finishing this type of work similar results were found: highly increased value of CDT. CONCLUSION: As both these people were documented to be abstinent for alcoholic beverages, it is rather likely that the values of CDT can be the signal of increased chemical exposure. With the proceeding of the CDT examinations it is necessary to look forward to the potentials of the revealing of the chemical exposure. The authors suggest that the CDT value in workers with chemical exposure can show the pathological changes caused by these substances.