Neonatal Screening for Cystic Fibrosis in Hungary-First-Year Experiences.

The aim of this study is to evaluate the strategy of the cystic fibrosis newborn screening (CFNBS) programme in Hungary based on the results of the first year of screening. A combined immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP) CFNBS protocol (IRT/IRT×PAP/IRT) was applied with an IRT-dependent safety net (SN). Out of 88,400 newborns, 256 were tested screen-positive.

Corticosteroids in the prevention and treatment of infants with bronchopulmonary dysplasia: Part II. Inhaled corticosteroids alone or in combination with surfactants.

This paper is the second in a two-part State-of-the-Art series that reviews the latest relevant clinical trials investigating the short-term and long-term effects of corticosteroids in the prevention and treatment of bronchopulmonary dysplasia (BPD). Inhaled postnatal corticosteroids demonstrate low systemic bioavailability and rapid systemic clearance with high pulmonary deposition and were expected to reduce the incidence of BPD with reduced adverse effects, however, increased rate of mortality in the neonatal period and at the 18-24 months follow-up was observed. In a milestone study, intratracheal instillation of corticosteroids combined with surfactant decreased the incidence of BPD without increasing the mortality or the long-term neurodevelopmental adverse outcomes.

Corticosteroids in the prevention and treatment of infants with bronchopulmonary dysplasia: Part I. systemic corticosteroids.

Bronchopulmonary dysplasia (BPD) is the most significant respiratory complication of prematurity, and its consequences last from birth into adulthood. Unfortunately, the dramatic improvements in the management of premature infants have not led to a decreased incidence of BPD, or to breakthroughs in treatments offered for this long-lasting chronic respiratory disorder. Over recent decades the pathological picture of BPD has changed from inflammation, interstitial fibrosis and emphysema attributed to volu-, barotrauma and oxygen toxicity to larger, simplified alveoli and dysmorphic vessels related to arrested alveolarization and vasculogenesis with inflammation maintaining a central role.

[The predictive value of the Kobayashi and Kawanet score systems regarding immunoglobulin resistance and cardiac complications in patients with Kawasaki disease: A pilot study].

Unlabelled: Összefoglaló. Bevezetés: A Kawasaki-szindróma immunvasculitis, amely kezeletlenül kardiológiai szövődményekhez vezethet. A korai intravénás immunglobulin-terápia mérsékli a szövődményeket, de az esetek 10-20%-a rezisztens a kezelésre.

Frailty, post-operative delirium and functional status at discharge in patients with hip fracture.

Objective: To explore the effect of frailty, alone and in combination with post-operative delirium (POD), on the risk of poor function at discharge in patients with hip fracture (HF).

Methods: This is a prospective cohort study of patients with HF admitted to an Orthogeriatric Unit (OGU) between October 1, 2011 and March 15, 2019. POD was assessed using the 4AT and the Diagnostic and Statistical Manual of Mental Disorders (DSM) 5-edition criteria.

The impact of psychomotor subtypes and duration of delirium on 6-month mortality in hip-fractured elderly patients.

Objective: Studies exploring the incidence and impact of the psychomotor subtypes of postoperative delirium (POD) on the survival of hip fracture patients are few, and results are inconsistent. We sought to assess the incidence of POD subtypes and their impact, in addition to delirium duration, on 6-month mortality in older patients after hip-fracture surgery.

Methods: This is a prospective study involving 571 individuals admitted to an Orthogeriatric Unit within a 5-year period with a diagnosis of hip fracture.

Correction: Risk Factors and Relationship of Cutaneous and Uveal Melanocytic Lesions in Monozygotic and Dizygotic Twin Pairs.

[This corrects the article DOI: 10.1371/journal.pone.

Risk Factors and Relationship of Cutaneous and Uveal Melanocytic Lesions in Monozygotic and Dizygotic Twin Pairs.

Background: The similar genetic background of a pair of twins, and the similar environmental impacts to which they are exposed allow an exact and objective investigation of various constitutional and environmental factors in naevus development. As far as we are aware, this is the first published survey that simultaneously examines cutaneous and ocular pigmented lesions in an appreciable sample of identical and non-identical twins.

Methods: 172 pairs of twins of Caucasian origin were included in this study.

Anaemia from a patient perspective in inflammatory bowel disease: results from the European Federation of Crohn's and Ulcerative Colitis Association's online survey.

Objective: Anaemia is frequently seen in inflammatory bowel disease (IBD) and needs appropriate treatment. This online questionnaire investigated the patients' perceptions of anaemia: symptoms, prevalence, treatment and impact on quality of life.

Methods: Patients participated in this survey in 2012.

Assessment of respiratory mechanics with forced oscillations in healthy newborns.

Background: Lung function data in healthy newborn infants are scarce largely due to lack of suitable techniques, although data for developmental and prenatal exposure studies are much needed. We have modified the forced oscillation technique (FOT) for the measurement of respiratory mechanical impedance (Zrs) in unsedated sleeping infants in the first 3 days of life.

Methods: Zrs was measured during 30-s epochs of quiet sleep in term neonates born via spontaneous vaginal delivery with a non-invasive FOT between 8 and 48 Hz.

Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.

Nemaline myopathy is a type of the heterogeneous group of congenital myopathies. Generalized hypotonia, weakness, and delayed motor development are the main clinical features of the typical congenital form. Histopathology shows characteristic nemaline rods in the muscle biopsy.

Congenital myasthenic syndromes and transient myasthenia gravis.

Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by various heterogeneous disorders of different origin which might lead to diagnostic difficulties. Disorders of the neuromuscular junction, such as congenital myasthenic syndromes and neonatal transient myasthenia gravis are among the aetiologies.

Human enterovirus 109 (EV109) in acute paediatric respiratory disease in Hungary.

Human enterovirus 109 (EV109) is a recently identified recombinant enterovirus in family Picornaviridae from acute paediatric respiratory illness in Nicaragua. EV109 have not been reported elsewhere. Our aims were the molecular detection and genetic analysis of EV109 from acute childhood respiratory infections in Hungary.

Effects of immunosuppression on immune response to pneumococcal vaccine in inflammatory bowel disease: a prospective study.

Background: Since immunomodulators and antitumor necrosis factor (TNF) agents are increasingly used to treat inflammatory bowel disease (IBD), it is recommended to administer antipneumococcal vaccination to prevent opportunistic pneumonia. There is some evidence that concomitant immunosuppression may impair the immune response to vaccination. We aimed to evaluate the response rates to pneumococcal vaccination in four different treatment groups (mesalamine, azathioprine, infliximab, infliximab plus azathioprine).

Detection and follow-up of torque teno midi virus ("small anelloviruses") in nasopharyngeal aspirates and three other human body fluids in children.

Torque teno midi virus/small anellovirus (TTMDV/SAV) is a member of the family Anelloviridae. It has a single-stranded, circular, negative-sense DNA genome. Its pathogenic role in human disease remains to be confirmed.

Acute severe colitis: infliximab and/or cyclosporine?

Acute severe ulcerative colitis is a serious condition that requires early hospitalization, with intensive monitoring and treatment. Despite the recent progress in the medical approach of Inflammatory Bowel Diseases acute severe ulcerative colitis remains a clinical challenge, with a mortality rate of nearly 1%. As of today, I.

Intestinal fibrosis in Crohn's disease: medical treatment or surgery?

Crohn's disease (CD) is a chronic panenteric disease of unknown aethiology tending to progress, inspite medical or surgical treatment. Intestinal fibrosis is among the most common complications of CD, resulting in stricture formation in the small intestine and colon. About 75% of CD patients will undergo surgery at least once over the course of their disease and fibrotic strictures represents the main indication for surgery and the first cause of hospitalization and costs for CD patients.

[Detection and molecular epidemiology of respiratory syncytial virus type A and B strains in childhood respiratory infections in Hungary].

Unlabelled: Human respiratory syncytial virus (hRSV) is one of the major causes of respiratory infection of infants and children worldwide. The molecular epidemiology of hRSV is unknown in Hungary.

Aims: Our aims were the molecular detection and genetic analysis of hRSV from childhood respiratory infections in Hungary.

Pontocerebellar hypoplasia type 1.

Pontocerebellar hypoplasias are heterogeneous disorders that share a reduction in the size of brainstem and cerebellum. We describe a patient with features of the rare combination of pontocerebellar hypoplasia and spinal motor neuron disease. Parental consanguinity, low Apgar scores, facial weakness, dysphagia, tongue fasciculations, stridor, generalized hypotonia, severe muscle weakness, areflexia, and congenital joint contractures were evident.

[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.