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 Cronbach's 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.

The aim of the study was to evaluate health-related quality of life (HRQoL) of Hungarian children attending a pediatric cardiology outpatient unit with the Pediatric Quality of Life Inventory (PedsQL) questionnaire. The PedsQL Generic Core Scales and Cardiac Module were administered to 254 families including 195 children during a pediatric cardiology outpatient visit, and 525 families including 373 children from the general population were examined by the PedsQL Generic Core Scale by a postal survey. The relationships between PedsQL scores and patient characteristics were analyzed. Hungarian children attending a cardiology outpatient unit as an entire group and patients with severe heart diseases report significantly lower physical functioning than the general population, while more HRQoL dimensions are negatively affected according to the parents' opinion. Children with congenital heart disease of mild and great complexity also report impaired psychosocial functioning. HRQoL impairment is concentrated to the age of 5-7 years. Comparing our results with previous ones on U.S. pediatric cardiologic samples, we found significantly lower scores mainly for the physical functioning and heart symptoms subscales. This HRQoL study with an internationally well-validated instrument on children with heart disease in a Central European country highlights certain aspects of the health-care system and brings the possibility for the assessment of pediatric cardiology outcomes in a more comprehensive way.

In two non-consanguineous Hungarian Roma (Gypsy) children who presented with cardiomyopathy and decreased plasma carnitine levels, we identified homozygous deletion of 17081C of the SLC22A5 gene that results in a frameshift at R282D and leads ultimately to a premature stop codon (V295X) in the OCTN2 carnitine transporter. Carnitine treatment resulted in dramatic improvement of the cardiac symptoms, echocardiographic, and EKG findings in both cases. Family investigations revealed four sudden deaths, two of them corresponded to the classic SIDS phenotype. In postmortem tissue specimens available from three of them we could verify the homozygous mutation. In liver tissue reserved from two patients lipid droplet vacuolization could be observed; the lipid vacuoles were located mainly in the peripherolobular regions of the acini. In the heart tissue signs of generalized hypertrophy and lipid vacuoles were seen predominantly in the subendocardial areas in both cases; some aggregates of smaller lipid vacuoles were separated, apparently by membranes. Review of all OCTN2 deficiency cases reported so far revealed that this is the first presentation of histopathology in classic familial sudden infant death syndrome (SIDS) with an established SLC22A5 mutation. In addition to the two affected homozygous cardiomyopathic children and three homozygous sudden death patients, the genetic analysis in 25 relatives showed 14 carriers. The mutant gene derived from five non-consanguineous grandparents, each of them having 6-14 brothers and sisters. This alone suggests a wide ancestral spread of the mutation in certain Roma subpopulations.

Az egészségügy egyik nagy problémája napjainkban, hogy számos betegségnek nincs igazoltan hatásos kezelése, emiatt ugyanazon kórképpel kapcsolatban gyakran kórházról kórházra más terápiás döntések születnek. Egyre nagyobb szükség van olyan áttekintő közleményekre, amelyek tudományos módszerekkel összegzik a szakirodalomból nyert információkat. A szerzők célja, hogy áttekintő közlemény keretein belül bemutassák a hagyományos narratív össze-foglalók korlátait, és szélesebb körben megismertessék a hazai szakemberekkel a minőségileg új, megbízhatóbb eredményeket biztosító rendszerezett áttekintő közlemények módszertanát és jelentőségét. A rendszerezett áttekintő közlemények olyan transzparens, tudományos módszertannal, protokoll alapján készülő magas szintű átfogó tanulmányok, amelyek az elkészítésük során végzett részletes, alapos kutatómunka révén tartalmazzák az összes fellelhető irodalom kritikus értékelését és tudományos igényű szintézisét egy adott témával kapcsolatban. A szisztematikus irodalmi áttekintések segítségével a legmegbízhatóbb tudományos bizonyítékok ismeretében, az egyéni klinikai tapasztalat felhasználásával hozhatunk diagnosztikus és terápiás döntéseket, amelyekre az egészségügy és az egészség-politika számos területén nagy szükség van. Orv. Hetil., 2015, 156(38), 1523-1531.Kulcsszavak: bizonyíték, protokoll, transzparencia, rendszerezett irodalmi áttekintés Systematic surveys of literature -importance and methodology Support in diagnostics and therapyThere is no proven effective treatment for many diseases today that proves to be one of the greatest problems of health care. Therefore, different therapeutic decisions are made in connection with the same disease by hospitals. There is a growing need for reviews which summarize the information collected from professional literature with scientifi c methods. The aim of the authors was to show the limitations of conventional narrative reviews, and to present the method and importance of systematic reviews to Hungarian professionals. Systematic reviews are transparent studies which are based on a predetermined protocol and collate all empirical evidence to answer a specifi c research question, and consequently provide more reliable results. They use explicit and systematic methods to minimize bias, and provide evidence for clinicians and policy makers to help them make diagnostic and therapeutic decisions which are essential in several fi elds of the health care system and health policy, too. ÖSSZEFOGLALÓ KÖZLEMÉNYAz utóbbi évtizedekben az egészségtudományokkal kapcsolatos publikációk mennyisége olyan mértékben megnövekedett, hogy szinte lehetetlen lépést tartani az új kutatási eredményekkel. A tankönyvek szerepét már ré-gen átvették a tudományos folyóiratokban megjelenő közlemények, a publikációk internet-hozzáférésének ál-

Congenital heart diseases (CHDs) are the most common birth defects among life births, which could be presented as isolated or syndromic with other congenital malformations. The etiology of CHD largely unknown, genetic and environmental factors contribute to the disease. Recurrent copy number variants (CNVs) have been reported in the pathogenesis of CHD. The aim of this study was to evaluate the clinical utility of multiplex ligationdependent probe amplification (MLPA) and microarray analyses on isolated and syndromic CHD cases and to explore the relationship between identified CNVs and CHD. Eighteen prenatal samples, 16 isolated and 33 syndromic patients with mild to severe CHD phenotype were tested. Prenatal and isolated CHD cases did not show pathogenic CNVs. Clinically significant CNVs were detected in 7/33 (21%) syndromic CHD patients: del 22q11.2 (n = 2), 8p23.1 duplication (n = 2), deletion 5p (n = 1), deletion 6q21q22 (n = 1), unbalanced translocation causing partial deletion of 4q34.3 and duplication of 6q25.1 (n = 1). These genomic imbalances contain genes that has been associated with human CHD before. The present study demonstrates that using microarray and MLPA analysis increase the detection rate of causal CNVs in individuals with syndromic CHD.