Case report: Urgent surgical management of pediatric clear cell sarcoma of the kidney with atrial obstruction.

Clear cell sarcoma of the kidney (CCSK) is an uncommon renal neoplasm of childhood. Progression of intracaval or cavoatrial thrombosis is extremely rare and mostly asymptomatic, treated with neoadjuvant therapy followed by surgery. However, in an unstable patient, acute radical surgical intervention is the treatment of choice. We present a 2-year-old girl diagnosed as having a large left kidney tumor and acute cardiac decompensation via cavoatrial thrombotic progression. Urgent radical nephrectomy and removal of tumor thrombus were performed using atriotomy and inferior vena cava (IVC) endarterectomy under cardiopulmonary bypass. Histopathology revealed CCSK. The patient is tumor-free at 9-year follow-up.

Effective integration of hospice palliative care into national oncology and general practice / A hospice-palliatív ellátás hatékony integrálása a hazai onkológiai és családorvosi gyakorlatba

Introduction: Hospice movement began in Hungary in 1991, today home care and impatient care is accessable na-tionwide. However, despite the growing number of patients receving palliative care, according to the survey of the Hungarian Hospice Palliative Association, the average time they have spent receiving home hospice care was only 26,7 days in 2020, when the ideal would be 8,5 months. It has been proven by studies, that involving hospice -palli-ative care early on in the treatment of oncology patients has benefits for both the quality of life and treatment and cost-effectiveness. To make this possible, we have to make certain ways of health care which lead the patients in need to specialised palliative care. Objective and method: In this statement, we introduce two forms of treatment which have proven that the early inte-gration of palliative care is efficiently attainable throughout health care systems in Hungary today.Results: Starting September of 2019, the National Institute of Oncology Palliative Mobil Team has been helping the patients of the Institute receive optimal care through consultation. In the general medicine, general practice partner-ship of Szentendre, two family doctors with palliative licence examination have been organizing trainings for their colleagues in order to show a new approach and help more patients of the region receive palliative care in time. Conclusion: These examples further prove that by accessing the current financial and human resources, through edu-cation and a change of attitude, the improvement of palliative care in Hungary is possible.

[Infantile haemangioma: clinical and demographic characteristics, experiences in the treatment]. / Infantilis haemangioma: klinikai és demográfiai jellemzok, kezelési-gondozási tapasztalatok.

INTRODUCTION: Infantile haemangiomas are the most common vascular tumours of infancy. The vast majority of the lesions do not require dermatological treatment due to their unique clinical course and the high rate of spontaneous regression. Approximately 10-15% of the tumours result in severe complications and sequale, requiring special management and close follow-up. AIM: The aim of the present study was to assess the data of the patients treated with infantile haemangiomas, and to summarize the results of the therapy during 4.5 years of study period, in the Paediatric Dermatology Outpatient Clinic of the Department of Dermatology and Allergology, at the University of Szeged. METHOD: Demographic data of the infants (gender, gestational age and weight, perinatal history of the infant and medical history of mothers), exact date of the visits at Paediatric Dermatology Outpatient Clinic and tumour characteristics (number, subtype, anatomical localisation and complications) were analysed in details. Treatment modalities and therapy intervals, outcomes and the adverse events of the therapies were also discussed in the survey. RESULTS: During the study period, 96 infants with 163 infantile haemangiomas were observed. 54 patients required regular observations, while 42 infants required local or systemic beta-blocker therapy. All of the tumours treated with local or systemic therapy showed marked clinical regression; adverse effects were observed in only 6 cases. The gestational age and gestational weight of infants requiring beta-blocker therapy was significantly lower as compared to children needed only observation. CONCLUSIONS: Systemic propranolol is currently the first-line treatment modality for complicated infantile haemangiomas. Our results confirm the significant therapeutic efficacy of propranolol. Early introduction of the treatment is relevant; unfortunately a great proportion of patients are referred late to Paediatric Dermatology Centres. Orv Hetil. 2017; 158(39): 1535-1544.

Identification of Two Novel LAMP2 Gene Mutations in Danon Disease.

BACKGROUND: Danon disease is a rare X-linked inherited disorder characterized by massive left ventricular hypertrophy, skeletal muscle dystrophy, and mental retardation. The disease is caused by mutations in the LAMP2 gene encoding for lysosome-associated membrane protein-2. METHODS: Two young male patients with hypertrophic cardiomyopathy, characterized by marked, concentric left ventricular hypertrophy, elevated levels of creatine kinase, and manifest limb-girdle muscular dystrophy in 1 case, were investigated. Genetic screening included direct sequencing of the whole coding sequence of the LAMP2 gene. RESULTS: Genetic analysis identified 2 novel LAMP2 gene mutations. In Family A, a G-A transition (c.962G > A) leading to a nonsense mutation at codon 321 (p.Trp321Ter), and in Family B, a one-nucleotide insertion (c.973insC) leading to a full frame-shift (p.Pro324+24X) was detected in exon 8 of the LAMP2 gene. Family screening identified 8 mutation carriers, with 4 nonpenetrant cases and 3 additional, probably affected family members without DNA diagnosis. The cardiac phenotype was hypertrophic cardiomyopathy in all cases, including female mutation carriers. Five disease-related deaths occurred in the families, at an average age of 33 ± 16 years, which was clearly lower in male than in female patients (28 ± 7 vs 42 ± 25 years). A high prevalence of arrhythmias or conduction abnormalities was also observed. CONCLUSIONS: The reported 2 novel LAMP2 gene mutation carrier families, one of them being one of the largest reported to date, highlight the malignant clinical course of Danon disease, characterized by a high rate of disease-related death at an early age and a high prevalence of arrhythmias or conduction abnormalities.

[More than 50 years' experience in the treatment of patients with congenital heart disease at a Hungarian university hospital]. / Több mint 50 év tapasztalat a congenitalis szívbetegek ellátásában egy magyar egyetemi központban. A CSONGRÁD Regiszter alapadatai.

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. The purpose of this paper is to review the facts and the basics leading to the establishment of this registry.

Emergence of OXA-162-producing Klebsiella pneumoniae in Hungary.

In August 2012, 2 carbapenem-resistant Klebsiella pneumoniae isolates from the University of Szeged were submitted to the National Reference Laboratory at the National Centre for Epidemiology to confirm the carbapenem resistance mechanism. PCR assays and sequencing revealed that the isolates harboured the blaOXA-162 carbapenemase gene, a very recently described variant of OXA-48, and the blaCTX-M-15 extended-spectrum ß-lactamase gene. The isolates had indistinguishable PFGE patterns and belonged to sequence type ST15. To the best of our knowledge, this is the first description of OXA-48-like carbapenemase-producing bacteria in Hungary and of an OXA-162-type carbapenemase gene in the K. pneumoniae ST15 clone.

The role of complement in Streptococcus pneumoniae-associated haemolytic uraemic syndrome.

BACKGROUND: Atypical forms of haemolytic uraemic syndrome (aHUS) include HUS caused by defects in the regulation of alternative complement pathway and HUS linked to neuraminidase-producing pathogens, such as Streptococcus pneumoniae. Increasing data support a pathogenic role of neuraminidase in the development of S. pneumoniae-associated haemolytic uraemic syndrome (SP-HUS), but the role of complement has never been clarified in detail. Therefore, we aimed to investigate whether the pathologic complement profile and genetic risk factors of aHUS are present in patients with SP-HUS. METHODS: Enrolling five patients with SP-HUS classical and alternative pathway activity, besides C3, C4, factors H, B, I and anti-factor H autoantibody levels were determined. The coding regions of CFH, CFI, CD46 (MCP), THBD, C3 and CFB genes were sequenced and the copy number of CFI, CD46, CFH and related genes were also analyzed. RESULTS: We found that in the acute phase samples of SP-HUS patients, complement components C4, C3 and activity of the classical and alternative pathways were decreased, indicating severe activation and complement consumption, but most of these alterations normalized later in remission. Three of the patients carried mutations and risk haplotypes in complement-mediated aHUS associated genes. The identified mutations include a previously published CFI variant (P50A) and two novel ones in CFH (R1149X) and THBD (T44I) genes. CONCLUSIONS: Our results suggest that severe complement dysregulation and consumption accompany the progress of invasive pneumococcal disease (IPD)-associated SP-HUS and genetic variations of complement genes may contribute to the development of this complication in a proportion of the affected patients.

Detection of serum antibodies against Helicobacter pylori using a chromatographic immunoassay in outpatients.

OBJECTIVES: The presence of the antibodies against Helicobacter pylori was tested in 163 subjects (children and adults) in the outpatient department, in the years 2005 and 2006. METHODS: Of the 163 investigated patients 108 (66.3%) were females and 55 (33.7%) were males. The antibodies against Helicobacter pylori were determined by "One Step Helicobacter pylori Test Device (Serum/Plasma)" (ACON Laboratories, Inc.), a rapid, high quality chromatographic immunoassay using human antibodies against IgG immobilized and particles covered with Helicobacter pylori antigen, in contact with the serum of the tested subjects. RESULTS: Of the 163 investigated subjects, 60 (36.8%) presented a positive test suggesting the passage through the infection with Helicobacter pylori. The positive tests were found in adults, 1 case was a boy of 12 years and 5 cases were teenagers between 16 and 18 years. The incidence of the antibodies increased with age. Only 40% of the patients with positive test had a clinical diagnosis of gastritis or gastro-duodenal ulcer, the remaining patients presenting symptoms of chronic hepatitis, cholecystitis or urticaria. CONCLUSIONS: Antibody assay is considered by many authors as a simple, noninvasive, rapid method, applicable in the diagnosis of Helicobacter pylori infection. Other authors asserted that the performance of these assays is less satisfactory and the results should be confirmed by other tests, such as ureea breath test. High levels of antibodies against Helicobacter spp. were encountered in liver and biliary chronic diseases, suggesting a possible role of these bacteria in the development of hepatitis or cholecystitis.

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. Forty-nine patients were treated with PGE1 during this period. PGE1 treatment was indicated by ductus dependent systemic circulation in 16 cases, ductus dependent pulmonary circulation in 17 cases, transposition of the great arteries in 13 cases and pulmonary hypertension (persistent fetal circulation) in three cases. As early side-effects of the treatment, fever occurred in 27/49 cases while apnoea was observed in 15 patients. In a one-week-old neonate with coarctation of the aorta grade III intraventricular hemorrhage developed. A mild decrease of sodium, potassium and chloride levels and a slight shift of pH levels toward metabolic alkalosis could be detected after one day and one week of PGE1 treatment. Because of these side-effects of PGE1 patients should be monitored in an intensive care unit. According to our observations electrolyte levels may exhibit a slight decrease; however, in the case of a short-term therapy extra salt supplementation is not necessary.