The prevalence of underweight and obesity in CHD. Response to body mass index and age are associated with ventricular end-diastolic pressure in adults with a Fontan circulation.

Introduction: The aim of the study is to determine the impact of obesity in children with CHD which is severe enough to require invasive catheterisation.

Methodology: This is a retrospective study in a cardiac catheterisation laboratory of a large paediatric hospital. The material consisted of 378 children from 2 to 19 years old who underwent heart catheterisation in the years 2011-2019.

Thrombotic Microangiopathy Associated with Macrophage Activation Syndrome: A Multinational Study of 23 Patients.

Objective: To describe the clinical characteristics, treatment, and outcomes of a multinational cohort of patients with macrophage activation syndrome (MAS) and thrombotic microangiopathy (TMA).

Study Design: International pediatric rheumatologists were asked to collect retrospectively the data of patients with the co-occurrence of MAS and TMA. Clinical and laboratory features of patients with systemic juvenile idiopathic arthritis (sJIA)-associated MAS and TMA were compared with those of an historical cohort of patients with sJIA and MAS.

Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype.

Objective: To describe a novel unbalanced X;21 translocation resulting in a derivative pseudodicentric chromosome X;21 lacking the critical region for ovarian development and function, in a 16-year-old girl referred for cytogenetic analysis due to primary amenorrhea and Turner-like features.

Methods: Cytogenetic analysis of the proband and her parents was performed on peripheral blood lymphocytes by GTG banding. Molecular cytogenetic FISH analysis was performed on metaphase preparations, using X chromosome centromeric probe and telomeric and pancentromeric peptide nucleic acid (PNA) analog probes.

The Impact of Adiposity and Puberty on Thyroid Function in Children and Adolescents.

In the context of a worldwide increase in childhood obesity, euthyroid hyperthyrotropinemia has been consistently reported and raises questions about its etiology, its potential metabolic complications, and its management. In this study we analyze the thyroid function with respect to BMI, pubertal status, and sex in children with obesity and discuss our results on an integrative context with the existent data from the literature. In this case-control study, we compared 389 children and adolescents with obesity to 158 controls.

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

Background: Although autoimmunity and hyperinflammation secondary to recombination activating gene (RAG) deficiency have been associated with delayed diagnosis and even death, our current understanding is limited primarily to small case series.

Objective: Understand the frequency, severity, and treatment responsiveness of autoimmunity and hyperinflammation in RAG deficiency.

Methods: In reviewing the literature and our own database, we identified 85 patients with RAG deficiency, reported between 2001 and 2016, and compiled the largest case series to date of 63 patients with prominent autoimmune and/or hyperinflammatory pathology.

Fever duration during treated urinary tract infections and development of permanent renal lesions.

Objective: To assess the effect of the duration of fever after the initiation of treatment (FAT) of febrile urinary tract infections (UTI) on the development of permanent renal lesions based on dimercaptosuccinic acid (DMSA) scintigraphy findings. To evaluate the FAT contribution to permanent renal lesion formation in relation to fever before treatment initiation (FBT), the presence of vesicourinary reflux (VUR), age and severity of infection.

Methods: The inpatient records of 148 children (median age: 2.

ETV6/RUNX1-positive childhood acute lymphoblastic leukemia (ALL): The spectrum of clonal heterogeneity and its impact on prognosis.

The prognostic significance of the ETV6/RUNX1-fusion and of the accompanying aberrations is disputable; whether co-existing sub-clones are responsible for delayed MRD-clearance and thus, moderate outcome, remains to be clarified. We studied, in a paediatric cohort of 119 B-ALLs, the relation between the ETV6/RUNX1 aberration and the co-existing subclones with (a) presenting clinical/biological features, (b) early response to treatment(MRD) and (c) long-term outcome over a 12-year period. Patients were homogeneously treated according to BFM-based-protocols.

A dynamic trinucleotide repeat (TNR) expansion in the DMD gene.

Dystrophinopathies are allelic X-linked myopathies caused by large deletions/duplications or small lesions along the DMD gene. An unexpected dynamic trinucleotide (GAA) expansion, ranging from ∼59 to 82 pure GAA repeats, within the DMD intron 62, was revealed to segregate through three family generations. From the pedigree, two female patients were referred for DMD investigation due to chronic myopathy and a muscle biopsy compatible with dystrophinopathy.

Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

[This corrects the article DOI: 10.1186/s13039-015-0169-9.].

An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

Background: There are three distinct subtypes of Trichorhinophalangeal syndrome (TRPS); TRPS type I, TRPS type II and TRPS type III. Features common to all three subtypes include sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose (pear-shaped), and protruding ears. Langer-Giedion syndrome (LGS) or TRPS type II is a contiguous gene syndrome on 8q24.

Flexible intramedullary nailing in paediatric femoral shaft fractures.

This retrospective study aims to evaluate the efficacy of flexible intramedullary (IM) nails as a fixation device of paediatric femoral shaft fractures. A total of 36 children with 37 closed fractures were treated by this method. The patients ranged in age from 7.

Intraosseous pseudotumour of the talus in a child with severe haemophilia.

We report a case of a large pseudotumour in the right talus of an 11-year-old boy with severe haemophilia A. The described intraosseous lesion was treated with surgical curettage and autologous bone grafting. Twenty months postoperatively computed tomography scan showed no signs of recurrence.

A case of Ehlers Danlos syndrome type VI.

Ehlers Danlos type VI is a rare autosomal recessive connective tissue disease involving primarily the skin and joints. The main feature of the condition is neonatal hypotonia and rare complications are ruptures of arteries and the eye globe. A 4 year old girl with a typical clinical presentation and molecular diagnosis of EDS VI is presented.

Cadmium Induces Fas Down-Regulation in a Human Immature T-cell Line.

Cadmium (Cd) is an ubiquitous toxic metal with apoptotic and genotoxic effects, which has been involved in a variety of pathological conditions inducing disturbance of the immune system. In the present study we treated the Fas-expressed human immature T-cell line CCRF-CEM with 10μM Cd for 6h or 24h. We found that pretreatment of the cells with Cd for 24h inhibited apoptosis induced by Fas-ligation with the CH-11 antibody, in contrast to pretreatment for 6h.

Evaluation of cadmium-induced transcriptome alterations by three color cDNA labeling microarray analysis on a T-cell line.

Beside heavy metals, cadmium (Cd(2+)) is a ubiquitous toxic metal with a well established apoptotic and genotoxic effect, chronic exposure of which has been involved in a variety of pathological conditions. In the present study, we investigated by 1455 genes cDNA microarrays the toxic and apoptotic effect of Cd(2+), on the T-cell line CCRF-CEM, applying a three laser differential analysis, on the same microarray slide. The cells were cultured for 6 and 24 h in the absence (control) or presence of Cd(2+) (10 or 20 microM), RNAs were extracted and the produced cDNAs were labeled with rhodamine derivatives fluorescent dyes.

Effective detection of active HCV infection: HCV RNA carrier state in a context free of hepatitis symptoms.

HCV immunological assays have limited specificity due to considerable variability of genomic coding sequences. Accordingly, PCR RNA detection also shows variable incidence of HCV in a non-A, non-B (NANB) hepatitis context. We used in-house designed nested PCR applying primers from the 5' untranslated region in 150 thalassemic patients classified in four groups according to anti-HCV screening and glutamic-pyruvate transaminase (GPT) levels.