Riociguat in children with pulmonary arterial hypertension: The PATENT-CHILD study.

Riociguat, a soluble guanylate cyclase stimulator, is approved for treatment of adults with pulmonary arterial hypertension (PAH). The safety, tolerability, and pharmacokinetics (PK) of oral riociguat in a pediatric population with PAH was assessed in PATENT-CHILD (NCT02562235), a multicenter, single-arm, 24-week, open-label, Phase 3 study. Patients aged 6-17 years in World Health Organization functional class (WHO-FC) I-III treated with stable endothelin receptor antagonists and/or prostacyclin analogs received riociguat equivalent to 0.

Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region.

Congenital heart defects (CHD) are the most common developmental abnormalities, affecting approximately 0.9% of livebirths. Genetic factors, including copy number variations (CNVs), play an important role in their development.

Multiple impairments of cutaneous nociceptor function induced by cardiotoxic doses of Adriamycin in the rat.

Besides their deleterious action on cardiac muscle, anthracycline-type cytostatic agents exert significant neurotoxic effects on primary sensory neurons. Since cardiac sensory nerves confer protective effects on heart muscle and share common traits with cutaneous chemosensitive nerves, this study examined the effects of cardiotoxic doses of adriamycin on the function and morphology of epidermal nerves. Sensory neurogenic vasodilatation, plasma extravasation, and the neural CGRP release evoked by TRPV1 and TRPA1 agonists in vitro were examined by using laser Doppler flowmetry, the Evans blue technique, and ELISA, respectively.

[Successful surgical management of aortico-left ventricular tunnel using modern noninvasive diagnostic imaging methods].

Aortico-left ventricular tunnel is a rare congenital cardiac defect, which bypasses the aortic valve via the paravalvar connection from the aorta to the left ventricle. The authors present the case of a 14-year-old boy with aortico-left ventricular tunnel in whom the aortic orifice arose from the right aortic sinus and was closed by a pericardial patch. The diagnosis was confirmed by combined two-dimensional and real time three-dimensional echocardiogram and magnetic resonance imaging.

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.

[More than 50 years' experience in the treatment of patients with congenital heart disease at a Hungarian university hospital].

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.

[Perspectives in the management of congenital heart defects in adult patients].

Due to improving results in congenital heart surgery, the number of adult patients with congenital heart defect is increasing. The question is: what kind of problems can be managed in this patient-group? The authors review the different problems of management of congenital heart defects in adults based on national and international literature data. Simple defects recognised in adults, postoperative residual problems, changing of small grafts and valves, correction of primary or operated coarctation aortae can be usually managed without problems.

Measurement of gastric-to-end-tidal carbon dioxide difference in neonates requiring intensive care.

Objective: Gastric-arterial partial CO(2) pressure gap (P(g-)(a)CO(2) gap) measured by gastric tonometry may detect the disturbance of splanchnic perfusion. As in the neonatal age it is very difficult to follow up the circulatory condition with frequent acid-base examinations, we wanted to compare the P(g-)(a)CO(2) gap with an alternative gap of P(g)CO(2) - end-tidal carbon dioxide (P(g)(-)(ET)CO(2) gap).

Methods: A prospective study was performed on ventilated neonates requiring intensive therapy (n = 44, weight: 1813 ± 977 g).

Neonatal outcome of macrosomic infants: an analysis of a two-year period.

Objective: To assess the neonatal outcome of macrosomic neonates in uncomplicated, singleton, term deliveries.

Study Design: A retrospective analysis was performed on 5738 live-born term neonates born in the period 2008-2009. The neonatal outcomes were compared between two birth weight (BW) groups: the macrosomic neonates born with BW≥4000g and a control group: 2500-3999g.

Outbreak of septicaemic cases caused by Acinetobacter ursingii in a neonatal intensive care unit.

Neonatal infections may be caused by various microorganisms, but as far as we are aware, Acinetobacter ursingii has not yet been reported in connection with nosocomial infections of premature infants. During 2 months, 3 premature babies were treated with nosocomial infection caused by A. ursingii at the same ward, and on the basis of molecular typing results the same strain was responsible for all of these cases.

Genetically determined neuromuscular disorders of some Roma families living in Hungary.

The authors discuss the clinical and molecular genetic aspects of genetically determined neuromuscular disorders of some Roma families living in Hungary. Among the autosomal recessively inherited spinal muscular atrophic (SMA) group, 8 Caucasian children had the typical 7-8 exonal deletions of the SMA gene, but only 2 patients belonged to the Roma population. There was no difference in the molecular genetic findings among the Caucasian and the Roma SMA patients.

Unusual clinical history of a male infant with Edwards syndrome.

Edwards syndrome (trisomy of chromosome 18) is generally characterized by the disorders of central nervous system, as well as the musculoskeletal and genitourinary systems. In majority of the cases with trisomy 18 the following malformations can be found: ventricular septal defect, horseshoe kidneys, oesophageal atresia, omphalocele, facial clefts, diaphragmatic hernias and genital hypoplasia. We report a male patient with Edwards syndrome.

Increased heme oxygenase-1 expression in premature infants with respiratory distress syndrome.

Oxidative stress is known to play an important role in the pathogenesis of certain severe illnesses in preterm infants. The enzyme heme oxygenase-1 (HO-1) participates in cytoprotection against oxygen radical injury. We have previously described the role of HO-1 in physiologic adaptation by demonstrating the induction of HO-1 in healthy mature neonates and asymptomatic preterm infants.

[Myotubular myopathy. Case report and review of the literature].

The first Hungarian report of a case of myotubular myopathy is presented here, which is a recessive congenital disorder linked to X chromosome. The patient presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis and respiratory insufficiency. The biopsy showed the appearance of myotubular myopathy.

X-linked myotubular myopathy: report of a case with novel mutation.

Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe X-linked recessive type (XLMTM). A baby boy presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis, and respiratory insufficiency.

Side-effects of long-term prostaglandin E(1) treatment in neonates.

Background: In some neonates suffering from ductus arteriosus dependent congenital heart defect, a Prostaglandin E(1) (PGE1) therapy longer than 2 weeks may be needed. However, PGE1 analogue compounds may produce several adverse effects.

Methods: The authors retrospectively analyzed the data of nine patients who underwent a PGE1 treatment lasting longer than 14 days.

Heme oxygenase-1 expression in premature and mature neonates during the first week of life.

Newborns are exposed to mechanical and oxidative stress during labor and to relative hyperoxia thereafter during the course of adaptation to the extrauterine conditions. Part of the adaptation mechanism is the rapid degradation of fetal hemoglobin and the oxidation of its heme moiety by heme oxygenases (HOs). Heme oxygenase-1 enzyme (HO-1) is the inducible isoform, which is induced by and protective against oxidative stress.

Selective sensory denervation by capsaicin aggravates adriamycin-induced cardiomyopathy in rats.

Capsaicin-sensitive sensory nerves that contain calcitonin gene-related peptide (CGRP) contribute significantly to cardioprotective mechanisms. In this study, the possible role of capsaicin-sensitive afferent nerves in the development of congestive heart failure was examined in an established model of adriamycin-induced experimental cardiomyopathy in rats. Systemic treatment with capsaicin was utilized to deplete sensory neuropeptides from cardiac afferent nerves.

Prostaglandin E1 treatment in patent ductus arteriosus dependent congenital heart defects.

Prostaglandin E1 (PGE1) treatment can be life saving in patients suffering from ductus dependent congenital heart defect. We analyzed the indications and side-effects of PGE1 therapy over a five-year period. The purpose of the study was also to examine whether a change in serum electrolyte levels could be detected.

Aplasia cutis congenita after methimazole exposure in utero.

We describe a patient who was exposed to the antithyroid drug methimazole during the first 6 weeks of gestation and was born prematurely with scalp and skull defects associated with facial asymmetry. A review of the literature seems to support the hypothesis that methimazole is a potential teratogen. Although the risk of birth defects is low with clinically applied doses of the drug, it cannot be regarded as safe and should therefore be avoided in the treatment of pregnant women.

Leiden mutation, bed rest and infection: simultaneous triggers for maternal deep-vein thrombosis and neonatal intracranial hemorrhage?

The possible etiologic roles of infection and bed rest are discussed in connection with a case of maternal homozygous Leiden mutation leading to prematurity, maternal deep-vein thrombosis and neonatal intracranial hemorrhage in a heterozygous premature baby. Maternal bacterial infection and bed rest may trigger deep-vein femoral thrombosis in women with a homozygous Leiden mutation on tocolytic therapy for the treatment of premature labor. The neonate carrying at least one mutated allele of factor V Leiden might be at risk for the development of intracranial hemorrhage.

Obstetric and neonatal risk of pregnancies after assisted reproductive technology: a matched control study.

Background: The aim of the study was to evaluate the obstetric and neonatal outcome of pregnancies after assisted reproduction technology (ART) in comparison with matched controls from spontaneous pregnancies.

Methods: A total of 12 920 deliveries at the Department of Obstetrics and Gynecology, University of Szeged, from 1 January 1995 to 31 December 2001 were subjected to retrospective analysis. Two hundred and eighty-four singleton, 75 twin and 17 triplet pregnancies after ovulation induction (n = 114; 30.