István Pataki

Measuring health-related quality of life in Hungarian children with heart disease: psychometric properties of the Hungarian version of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales and the Cardiac Module.

ObjectivesThe aim of the study was to investigate the psychometric properties of the Hungarian version of the Pediatric Quality of Life Inventory™ (PedsQL™) Generic Core Scales and Cardiac Module.MethodsThe PedsQL™ 4.0 Generic Core Scales and the PedsQL™ 3.0 Cardiac Module was administered to 254 caregivers of children (aged 2-18 years) and to 195 children (aged 5-18 years) at a pediatric cardiology outpatient unit. A postal survey on a demographically group-matched sample of the general population with 525 caregivers of children (aged 2-18 years) and 373 children (aged 5-18 years) was conducted with the PedsQL™ 4.0 Generic Core Scale. Responses were described, compared over subgroups of subjects, and were used to assess practical utility, distributional coverage, construct validity, internal consistency, and inter-reporter agreement of the instrument.ResultsThe moderate scale-level mean percentage of missing item responses (range 1.8-2.3%) supported the feasibility of the Generic Core Scales for general Hungarian children. Minimal to moderate ceiling effects and no floor effects were found on the Generic Core Scales. We observed stronger ceiling than floor effects in the Cardiac Module. Most of the scales showed satisfactory reliability with Cronbachs α estimates exceeding 0.70. Generally, moderate to good agreement was found between self- and parent proxy-reports in the patient and in the comparison group (intraclass correlation coefficient range 0.52-0.77), but remarkably low agreement in the perceived physical appearance subscale in the age group 5-7 years (0.18) and for the treatment II scale (problems on taking heart medicine) scale of the Cardiac Module in children aged 8-12 years (0.39). Assessing the construct validity of the questionnaires, statistically significant difference was found between the patient group and the comparison group only in the Physical Functioning Scale scores (p = 0.003) of the child self-report component, and in Physical (p = 0.022), Emotional, (p = 0.017), Psychosocial Summary (p = 0.019) scores and in the total HRQoL (health-related quality of life) scale score (p = 0.034) for parent proxy-report.ConclusionThe findings generally support the feasibility, reliability and validity of the Hungarian translation of the PedsQL™ 4.0 Generic Core Scales and the PedsQL™ 3.0 Cardiac Module in Hungarian children with heart disease.

In utero incarceration of congenital diaphragmatic hernia.

In utero diagnosis of incarcerated congenital diaphragmatic hernia has never been reported. In our case, congenital diaphragmatic hernia presented at 34 weeks of gestation with dilated bowel loops, pleural effusion, and ascites on fetal ultrasound. Preterm delivery and emergency exploration revealed a tight posterolateral diaphragmatic defect with extensive bowel infarction.

Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency

INTRODUCTION Protein C (PC) is a major anticoagulant and numerous distinct mutations in its coding gene result in quantitative or qualitative PC deficiency with high thrombosis risk. Homozygous or compound heterozygous PC deficiency usually leads to life-threatening thrombosis in neonates. PATIENTS AND METHODS The molecular consequences of 3 different missense mutations of two patients have been investigated. The first patient suffered from neonatal purpura fulminans and was a compound heterozygote for p.Asp77Gly and p.Ala163Glu mutations. The second patient had severe deep venous thrombosis in young adulthood and carried the p.Ala163Val mutation. The fate of mutant proteins expressed in HEK cells was monitored by ELISA, by Western blotting, by investigation of polyubiquitination and by functional assays. Their intracellular localization was examined by immunostaining and confocal laser scanning microscopy. Molecular modeling and dynamics simulations were also carried out. RESULTS AND CONCLUSIONS The 163Val and 163Glu mutants had undetectable levels in the culture media, showed intracellular co-localization with the 26S proteasome and were polyubiquitinated. The 77Gly mutant was secreted to the media showing similar activity as the wild type. There was no difference among intracellular PC levels of wild type and mutant proteins. The 163Val and 163Glu mutations caused significant changes in the relative positions of the EGF2 domains suggesting misfolding with the consequence of secretion defect. No major structural alteration was observed in case of 77Gly mutant; it might influence the stability of protein complexes in which PC participates and may have an impact on the clearance of PC requiring further research.

Recycling of bowel content: the importance of the right timing.

INTRODUCTION Extracorporeal stool transport (recycling of chyme discharged from the proximal stoma end to the distal end of a high jejunostomy or ileostomy) is thought to be beneficial in preventing malabsoprtion, sodium loss, cholestasis and atrophy of the distal intestine until restoration of the intestinal continuity becomes possible. However little is known about its adverse effects. Our aim was to investigate the microbiological safety of recycling. MATERIAL AND METHOD Native samples were taken from the proximal stoma in 5 premature neonates who underwent an ileostomy or a jejunostomy due to necrotising enterocolitis, for qualitative culture. The first sample was drawn immediately after the change of the stoma bag, further samples were sent from the stoma bag at 30, 60, 90, 120, 150, and 180min later. The samples were inoculated by calibrated (10 μl) loops onto blood agar (5% sheep blood), eosin-methylene blue agar and anaerobic blood agar, respectively (Oxoid). The aerobic plates were incubated for 18-20 h at 5% CO2, whereas the anaerobic plates were incubated for 24-48 h in an anaerobic chamber (Concept 400). The bacterial strains were identified to species level by specific biochemical reactions, RapID-ANA II system (Oxoid) and ID32E, Rapid ID 32 Strep ATB automatic system cards (bioMérieux). RESULTS The number of colony forming unit (CFU) of Gram-negative bacteria (mainly E. coli) exponentially increased after 30 min and reached 10(5)/ml after 120 min. Gram-positive strains (primarily E. faecalis) were detected after 60 min and CFU increased to 10(5)/ml after 120 min. The number of anaerobic (principally Bacteroides fragilis) CFU started to increase after 120 min. In two cases coagulase negative Staphylococcus strains were isolated the earliest in the chyme. The average of total CFU approached 10(5)/ml after 90 min and exceeded 10(5)/ml after 120 min. CONCLUSION The chyme in the stoma bag is colonized by commensal facultative pathogenic enteral/colonic as well as skin flora species after 120 min. Recycling of stoma bag content may be dangerous after 90 min.

Copper-induced oxidative/nitrosative stress and excitoxicity in the neonatal period: neuroprotection with D-Penicillamine

This review focuses on the possible molecular mechanisms of the neonatal brain injuries: copper-induced oxidative/nitrosative stress and excitoxicity in the neonatal period. Firstly, it clears up the nature of these phenomenons in newborn babies. The emerging question: how to protect the neonatal brain? The authors’ new concept addresses the medical necessity of chelation therapy (with D-Penicillamine /D-PA/) in the neonatal period. The possible molecular mechanisms of D-PA in the neuroprotection [1]. It’s a hybrid drug in the neonatal period by its ability to modulate both oxidative stress and nitric oxide (NO) pathway [2]. As a carbonyl scavenger, D-PA binds primarily to aldehydes in an irreversible manner; consequently this drug inhibits their damaging effects and scavenges peroxynitrite as well. So, it alleviates lipid peroxidation of the membranes in the neonatal brain [3]. Chelation therapy in neonates restores the normal activity of enzymes participating in heme metabolism. Briefly, chelating agents facilitate heme synthesis and inhibit heme degradation. In other words, this drug as a chelating agent, boost or inhibit the immature enzyme systems to the adult level [4]. Since reactive oxigen/nitrogen species (ROS/RNS) generation triggers glutamate-mediated excitotoxicity, D-PA can also be used as a copper chelator and strong ROS/RNS inhibitor against this dangerous phenomenon. Correspondence to: Lajos Lakatos, Department of Pediatrics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Nagyerdei Krt. 1, Hungary, Tel: +36-52-225335, Fax: +36-52-225335, E-mail: lakatosl@kenezykorhaz.hu

Bilateral transtentorial herniation and isolated fourth ventricle: a scientific note.

Three morphological types of PVL described in the literature[5] are as follows: type I, most common, showing focal necrosis centered on the ventricles or the subcortical zone; type II, with linear diffuse necrosis, is quite rare and resembles a fungal mycelium microscopically, as seen in this case, with large areas of hemorrhagic necrosis; and type III, which has variegated necroses. Valsiuk et al.[6] have described 4 cases of PVL, wherein the basophilic fibers were mimicking as fungal hyphae, which are damaged non-myelinated axons with mineralization. In conclusion, this case highlights the gross and microscopic lesions of PVL as rare fungal mimickers; and the need for awareness of this resemblance to avoid misinterpretation.

Successful surgical intervention in a case of spontaneous chylothorax in an infant unresponsive to conservative therapy

Abstract We report a case of an infant with spontaneous chylothorax due to the congenital malformation of a small lymph vessel of the chest wall. Conservative therapy with omitting long-chain fatty acids from the diet, fat-free nutrition, total parenteral nutrition and intravenous somatostatin did not result in the decrease of pleural effusion. Thoracic surgical intervention performing thoracic duct ligation and using fibrin sealants was applied after 10 days of unsuccessful conservative therapy, and resulted in the complete recovery of the patient. Our experience support the already existing observations, that in cases where the daily loss of chyle exceeds 100 ml per age years and/or lasts longer than 2 weeks, early surgical intervention is recommended.

In utero thrombosis of neonates: inhereted thrombophilia?

Thromboembolic events are relatively uncommon in childhood. It involves mainly children under one year of age and adolescents, with an incidence is 5.1/10000 live births. Authors present a course of disease of seven cases with neonatal thromboembolic events (2.5/admissions), diagnosed and treated at the Neonatal Division of Department of Pediatrics. In three of seven cases thrombosis proved to be of intrauterine origin. In each of the latter cases, inherited thrombophilia of the mothers was detected. Additional risk factors including infection could be revealed only in one case. Using in vivo and post mortem DNA analysis, mother-like-thrombophilia could not be confirmed in any of the newborns. Based on their experiences, authors suppose that undetected predisposing factors added to maternal thrombophilia can be considered as etiological factor. Authors suggest the intensive follow-up of pregnant women with thrombophilia and also their fetuses.

Újszülöttek in utero kialakult thrombosisa: örökletes thrombophilia?@@@In utero thrombosis of neonates: inhereted thrombophilia?

Thromboembolic events are relatively uncommon in childhood. It involves mainly children under one year of age and adolescents, with an incidence is 5.1/10000 live births. Authors present a course of disease of seven cases with neonatal thromboembolic events (2.5/admissions), diagnosed and treated at the Neonatal Division of Department of Pediatrics. In three of seven cases thrombosis proved to be of intrauterine origin. In each of the latter cases, inherited thrombophilia of the mothers was detected. Additional risk factors including infection could be revealed only in one case. Using in vivo and post mortem DNA analysis, mother-like-thrombophilia could not be confirmed in any of the newborns. Based on their experiences, authors suppose that undetected predisposing factors added to maternal thrombophilia can be considered as etiological factor. Authors suggest the intensive follow-up of pregnant women with thrombophilia and also their fetuses.

Újszülöttek in utero kialakult thrombosisa: örökletes thrombophilia?

Thromboembolic events are relatively uncommon in childhood. It involves mainly children under one year of age and adolescents, with an incidence is 5.1/10000 live births. Authors present a course of disease of seven cases with neonatal thromboembolic events (2.5/admissions), diagnosed and treated at the Neonatal Division of Department of Pediatrics. In three of seven cases thrombosis proved to be of intrauterine origin. In each of the latter cases, inherited thrombophilia of the mothers was detected. Additional risk factors including infection could be revealed only in one case. Using in vivo and post mortem DNA analysis, mother-like-thrombophilia could not be confirmed in any of the newborns. Based on their experiences, authors suppose that undetected predisposing factors added to maternal thrombophilia can be considered as etiological factor. Authors suggest the intensive follow-up of pregnant women with thrombophilia and also their fetuses.