[SARS-CoV-2 infection and its prevention in pediatric autoimmune diseases].

Összefoglaló. A krónikus autoimmun betegségben szenvedőkben a súlyos COVID-19 kialakulásának kockázata magasabb, a SARS-CoV-2-fertőzés pedig a krónikus alapbetegség progressziójához, fellángolásához vezethet. A COVID-19 elkerülésének legbiztonságosabb, legköltséghatékonyabb módszere a vakcináció, illetve az emellett alkalmazott higiénés szabályok betartása, a megfelelő maszk viselése.

[Diagnosis and treatment of paediatric multisystem inflammatory syndrome].

Összefoglaló. A SARS-CoV-2-fertőzés ritka gyermekkori szövődménye a sokszervi gyulladás, angol terminológiával paediatric inflammatory multisystem syndrome (PIMS). Két vagy több szerv érintettségével járó, súlyos tünetekkel induló betegségről van szó, amelynek tünetei átfedést mutatnak a Kawasaki-betegséggel, a toxikus sokk szindrómával és a makrofágaktivációs szindrómával.

The Hungarian version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR).

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient-reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Hungarian language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients.

Consensus-based recommendations for the management of uveitis associated with juvenile idiopathic arthritis: the SHARE initiative.

Background: In 2012, a European initiative called ingle Hub and Access point for pediatric Rheumatology in Europe (SHARE) was launched to optimise and disseminate diagnostic and management regimens in Europe for children and young adults with rheumatic diseases. Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in children and uveitis is possibly its most devastating extra-articular manifestation. Evidence-based guidelines are sparse and management is mostly based on physicians' experience.

The glucocorticoid receptor gene polymorphism N363S predisposes to more severe toxic side effects during pediatric acute lymphoblastic leukemia (ALL) therapy.

The survival rates in childhood acute lymphoid leukemia (ALL) have improved dramatically; however, patients still suffer from a variety of drug-related toxicities. Individualized therapy regimens promise the least toxic therapy regimen with the best hematologic outcome. Our aim was to investigate whether increased individual glucocorticoid sensitivity due to the N363S polymorphism of the glucocorticoid receptor increased susceptibility to steroid-related toxicities during ALL therapy.

[Management of Fabry disease].

Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease is progressive and the first symptoms usually present in childhood. Consequences of the disease are disability and premature death.

Idiopathic inflammatory myopathies, signified by distinctive peripheral cytokines, chemokines and the TNF family members B-cell activating factor and a proliferation inducing ligand.

Objective: Serum cytokines play an important role in the pathogenesis of myositis by initiating and perpetuating various cellular and humoral autoimmune processes. The aim of the present study was to describe a broad spectrum of T- and B-cell cytokines, growth factors and chemokines in patients with idiopathic inflammatory myopathies (IIMs) and healthy individuals.

Methods: A protein array system, denoted as multiplex cytokine assay was utilized to measure simultaneously the levels of 24 circulating cytokines, including B-cell activating factor (BAFF) and a proliferation inducing ligand (APRIL) of patients with IIMs and healthy individuals.

Myositis-specific and myositis-associated antibodies in overlap myositis in comparison to primary dermatopolymyositis: Relevance for clinical classification: retrospective study of 169 patients.

Objective: The current study was performed in order to determine the prevalence of different myositis-specific and myositis-associated antibodies, as well as their association with clinical characteristics, disease course and response to therapy in 169 Hungarian patients with idiopathic inflammatory myopathy.

Methods: Sera of 130 primary and 39 overlap myositis including systemic sclerosis (13), rheumatoid arthritis (12), systemic lupus erythematosus (5) and Sjögren's syndrome (9) cases were analyzed. Antinuclear antibody, scleroderma-associated antibodies (anti-centromere, anti-topoisomerase I), anti-Jo-1, anti-PL-7, anti-PL-12, anti-Mi-2, anti-SRP and anti-PM-Scl, anti-Ku, anti-SS-A, anti-SS-B, anti-U1snRNP were tested.

[Fabry disease--diagnostic guideline].

Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease is progressive, first symptoms usually present in childhood. Consequencies of the diseases are disability and premature death.

Paraneoplastic myopathy.

Purpose Of Review: It has been recognized for some time now, that compared with the normal population, patients with idiopathic inflammatory myopathies (IIM) live with an increased risk of developing malignancy. In the majority of these patients, cancer-associated myositis appears to have some paraneoplastic features. The aim of the present review is to describe new data that explain the connection between myositis and malignant diseases, as well as to highlight its value in the current management of these patients.

Prevalence of antiphospholipid and antinuclear antibodies in children with epilepsy.

Background: Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by recurrent venous thrombosis or arterial occlusive events and fetal losses associated with elevated levels of antiphospholipid antibodies (aPLs).

Material/methods: The presence of antinuclear, anti-beta2-glycoprotein I, and anticardiolipin antibodies were investigated in 60 consecutive children with epilepsy who were followed up in a single Hungarian center.

Results: Almost 50% (28/60) of the patients were ANA positive.

Improper supplementation habits of folic acid intake by Hungarian pregnant women: improper recommendations.

Background: Neural tube defects (NTDs) are some of the most common congenital anomalies. Proper folic acid supplementation is a dominant risk factor, which has been shown to decrease the incidence of NTDs. In Canada, the incidence of neuroblastoma has presented a considerable decrease of 60% as a result of enrichment cereal grain flours with synthetic folic acid.

Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease.

We carried out molecular studies of 15 unrelated Hungarian families diagnosed with Fabry disease (FD). Genetic analysis of the alpha-galactosidase A gene was performed in 22 hemizygous males and 34 females. One of the female patients with severe disease phenotype showed homozygosity for the recurrent c.

Late immune recovery in children treated for malignant diseases.

In this study we analyzed the recovery of the immune system in children after completion of the therapy. We analysed 88 children (51 boys, 37 girls, mean age at diagnosis: 7.8 years) receiving chemotherapy for malignant diseases (43 acute lymphoblastic leukemia, 15 lymphoma, 20 bone tumor, ten other solid tumors).

Dermatomyositis and polymyositis associated with malignancy: a 21-year retrospective study.

Objective: To analyze clinical and laboratory data of patients diagnosed with dermato- or polymyositis between 1985 and 2006, retrospectively, with particular emphasis on association with malignant diseases.

Methods: A thorough clinical assessment was performed on the immunological features and therapeutic responses, as well as survival data. In the case of 155 myositis patients, HLA haplotypes were also investigated.

[Disease course, frequency of relapses and survival of patients with juvenile or adult dermatomyositis].

Introduction: The idiopathic inflammatory myopathies are systemic autoimmune diseases characterized by chronic muscle inflammation resulting progressive weakness and frequent involvement of internal organs, mainly the pulmonary, gastrointestinal and cardiac systems.

Objective: To present clinical characteristics, disease course, frequency of relapses and survival of 79 patients with juvenile or adult dermatomyositis.

Methods: A national registry of patients with juvenile dermatomyositis was elaborated by the authors in Hungary.

Treatment of pediatric non-Hodgkin lymphoma in Hungary: 15 years experience with NHL-BFM 90 and 95 protocols.

Retrospective analysis was performed to assess the survival-rates of children with non-Hodgkin lymphoma (NHL), treated according to the NHL-BFM (Berlin-Frankfurt-Münster)-90 and -95 protocols between 1990 and 2004 in Hungary, and to compare our data with the international results. Ninety-one patients had non-B-NHL, 108 B-NHL, and 31 ALCL. Complete remission rate was 89%, while 12% relapsed later.

[Hungarian experience with non-Hodgkin's lymphoma in childhood].

Between 1990 and 2004, 230 children with non-Hodgkin's lymphoma (NHL) were treated according to the Berlin-Frankfurt-Münster (BFM) protocols (NHL-BFM-90 and -95) in Hungary. The aim of the present study was to summarize our experience with these protocols, to assess the survival rates and to compare the Hungarian data with the international results. The male-to-female ratio was 2.

Pregnancy outcome in idiopathic inflammatory myopathy.

The aim of our study was to assess the prevalence and outcome of pregnancy in idiopathic inflammatory myopathy patients who became pregnant after the onset of the disease. Female idiopathic inflammatory myopathy patients (173) were included in our study. The patients' charts and clinical data were retrospectively analyzed.

National registry of patients with juvenile idiopathic inflammatory myopathies in Hungary--clinical characteristics and disease course of 44 patients with juvenile dermatomyositis.

Idiopathic inflammatory myopathies (IIMs) are systemic autoimmune diseases characterized by chronic muscle inflammation resulting in progressive weakness and frequent involvement of internal organs, mainly the pulmonary, gastrointestinal and cardiac systems which considerably contribute to the morbidity and mortality of the IIMs. Aim of this study was to present clinical characteristics, disease course, frequency of relapses and survival in patients with juvenile dermatomyositis (DM). A national registry of patients with juvenile IIMs was elaborated by the authors in Hungary.

Prostate cancer underlying acute, definitive dermatomyositis: successful treatment with radical perineal prostatectomy.

The idiopathic inflammatory myopathies are systemic autoimmune diseases characterized by chronic inflammation leading to progressive weakness of the proximal muscles. In 7-66% of cases of adult dermatomyositis different malignant tumours can promote the difficult cascade mechanisms at the cell level, leading to rapid weakness of skeletal muscles [1]. We report on a patient with all characteristic signs of acute, severe dermatomyositis associated with a low-grade, low-stage prostate cancer cured by radical perineal prostatectomy.

Cancer-associated myositis: clinical features and prognostic signs.

Idiopathic inflammatory myositis is characterized by progressive weakness of the proximal muscles. There is a higher risk of malignancy than in the normal population. The aim of this study was to evaluate the frequency of malignancy among 251 myositis patients.

Paraneoplastic rheumatic syndromes.

Paraneoplastic symptoms caused by a malignancy but not directly related to tumour invasion are the result of a wide variety of tumour-derived biologic mediators, such as hormones, peptides, antibodies, cytotoxic lymphocytes, autocrine and paracrine mediators. Recognition of paraneoplastic syndromes is important, as it may lead to an early diagnosis of cancer. On the other hand, the clinical severity of the symptoms can be used as a guide to the extent of response to underlying tumour therapy.

Detection of TT virus in patients with idiopathic inflammatory myopathies.

The TT virus, a recently identified single-stranded DNA virus with unknown pathogenicity, has been shown to commonly infect humans. Viruses have been considered to contribute to disease pathogenesis in autoimmune disorders including idiopathic inflammatory myopathies (IIMs) and rheumatoid arthritis (RA). We assessed the prevalence of TTV infection in IIM compared with that in patients with RA and healthy blood donors.