HOXA9 and MEIS1 gene overexpression in the diagnosis of childhood acute leukemias: Significant correlation with relapse and overall survival.

Homeobox genes HOXA9 and MEIS1 are evolutionarily conserved transcription factors with essential roles in both hematopoiesis and leukemogenesis. They act as dominant cooperating oncoproteins that cause acute leukemias bearing MLL translocations and to a lesser extent T-cell acute lymphocytic leukemia (ALL) characterized by other gene fusions. Overexpression is associated with an adverse prognosis in adults.

Antioxidation improves in puberty in normal weight and obese boys, in positive association with exercise-stimulated growth hormone secretion.

Background: Oxidative stress is associated with obesity while the evidence for the role of GH in pro- and antioxidation is inconclusive. This study investigates the relationships between growth hormone (GH), pro- and antioxidation in relation to obesity and puberty before and after an acute bout of exercise.

Methods: In this case-control study, 76 healthy normal-weight and obese, prepubertal and pubertal boys underwent a blood sampling before and immediately after an aerobic exercise bout until exhaustion at 70% maximal oxygen consumption.

CHILD Syndrome: Successful Treatment of Skin Lesions with Topical Simvastatin/Cholesterol Ointment--A Case Report.

CHILD syndrome is a rare X-linked dominant condition that presents with congenital hemidysplasia, Ichthyosiform erythroderma, and limb defects in affected patients. We report the case of a 10-year-old girl treated with topical simvastatin and cholesterol ointment, after which her skin lesions significantly improved within the first 30 days of treatment.

Validation of serum biomarkers derived from proteomic analysis for the early screening of preeclampsia.

Aim: To examine the potential value of previously identified biomarkers using proteomics in early screening for preeclampsia (PE).

Methods: 24 blood samples from women who subsequently developed PE and 48 from uncomplicated pregnancies were obtained at 11-13 weeks and analysed after delivery. Cystatin-C, sVCAM-1, and Pappalysin-1 were quantified by ELISA.

Antigen-specific B-cell response to 13-valent pneumococcal conjugate vaccine in asplenic individuals with β-thalassemia previously immunized with 23-valent pneumococcal polysaccharide vaccine.

Current guidelines recommend a combined schedule of a 13-valent pneumococcal conjugate vaccine (PCV13) and PPSV23 (23-valent polysaccharide vaccine) for asplenic individuals. We show that PCV13 induces a T-dependent immune response in asplenic individuals with β-thalassemia, but previous PPSV23s affect the memory B-cell response in a dose- and time-dependent manner. Clinical Trials Registration.

Cholesterol regulates Syntaxin 6 trafficking at trans-Golgi network endosomal boundaries.

Inhibition of cholesterol export from late endosomes causes cellular cholesterol imbalance, including cholesterol depletion in the trans-Golgi network (TGN). Here, using Chinese hamster ovary (CHO) Niemann-Pick type C1 (NPC1) mutant cell lines and human NPC1 mutant fibroblasts, we show that altered cholesterol levels at the TGN/endosome boundaries trigger Syntaxin 6 (Stx6) accumulation into VAMP3, transferrin, and Rab11-positive recycling endosomes (REs). This increases Stx6/VAMP3 interaction and interferes with the recycling of αVβ3 and α5β1 integrins and cell migration, possibly in a Stx6-dependent manner.

Retrospective analysis of the relationship between infantile seborrheic dermatitis and atopic dermatitis.

A growing number of dermatologists dispute the existence of infantile seborrheic dermatitis (ISD) as an independent clinical entity. Therefore the aim of the present study was to estimate the epidemiologic features of ISD in a defined population of Greek children, assess its course, and identify associations, if any, with other common dermatoses of childhood. Children from the region of Athens who were examined and diagnosed with typical clinical features of ISD between 1997 and 2011 were included in the study.

Implication of IRF4 aberrant gene expression in the acute leukemias of childhood.

The most frequent targets of genetic alterations in human leukemias are transcription factor genes with essential functions in normal blood cell development. The Interferon Regulatory Factor 4 (IRF4) gene encodes a transcription factor important for key developmental stages of hematopoiesis, with known oncogenic implications in multiple myeloma, adult leukemias and lymphomas. Very few studies have reported an association of IRF4 with childhood malignancy, whereas high transcript levels have been observed in the more mature immunophenotype of ALL.

Iron chelation with deferasirox for the treatment of secondary hemosiderosis in pediatric oncology patients: a single-center experience.

Pediatric oncology patients are often iron overloaded, due to the multiple blood transfusions necessary during the course of chemotherapy. Our aim is to report the efficacy and safety of deferasirox, an oral iron chelator, in this patient group. Deferasirox was administered to 13 children with malignancies in remission and iron overload.

Review: advances in non-invasive prenatal diagnosis.

The invasive procedures amniocentesis and chorionic villus sampling are routinely applied in pregnancies at risk for fetal genetic disorders and the results obtained are the gold standard for prenatal diagnosis. These procedures have an approximately 0.5-1% risk for fetal loss and are mainly used in cases at risk for fetal chromosomal abnormalities and single-gene disorders.

Variation of serum C-reactive protein (CRP) over time in pediatric cancer patients with febrile illness and its relevance to identified pathogen.

Objective: To evaluate the correlation of serum CRP with clinical and laboratory parameters proven to be related to the cause of infection in pediatric cancer patients.

Methods: We studied prospectively for a 12-month period, 37 pediatric cancer patients, who presented with 70 episodes of febrile illness (38 bacterial and 13 viral infections). At fever's onset and 48 h later, infection indices, such as CRP, WBC, ANC were measured in the peripheral blood.

Biomarker development for non-invasive prenatal diagnosis of fetal aneuploidies: predictive reliability and potential clinical application.

Current non-invasive prenatal diagnosis for fetal aneuploidies is based on biochemical and ultrasound markers and needs to be improved in order to reduce the number of pregnant women subjected to invasive diagnostic procedures. Proteomic technologies allow for new strategies for discovering biomarkers in complex biological fluids in a high-throughput and sensitive manner. Application of advance proteomic tools to profile pathology-specific proteins in maternal plasma obtained from pregnancies with aneuploid fetuses revealed biomarker-candidates that can potentially revolutionize the diagnostic and treatment procedure in favor of better prediction and improved individual outcomes.

Functional and behavioral outcome of bacterial meningitis in school-aged survivors.

Background: Bacterial meningitis is a serious infection with high morbidity and a significant risk for neurological and functional sequelae. The purpose of this study was to assess children and teenagers with a history of bacterial meningitis for functional and behavioral problems.

Methods: Thirty children and teenagers who suffered bacterial meningitis beyond the age of 6 months were compared against 30 healthy controls for functional and behavioral problems.

Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene.

Mutations in the Wilms' tumor suppressor gene 1 (WT1), most commonly within exons 8 or 9 or intron 9, are found in cases with the overlapping conditions of Denys-Drash and Frasier syndromes, as well as in patients with steroid-resistant nephrotic syndrome (SRNS). This study investigated the presence of WT1 gene mutations in cases with childhood SRNS, along with an evaluation of their clinical outcome. Twenty-seven Greek children with sporadic (19 cases) and familial (8 cases) SRNS were tested.

Ophthalmic findings in the Greek isolate of Cohen syndrome.

A high frequency of the Cohen syndrome has been observed in a Greek island with 2,000 inhabitants and a high degree of inbreeding. All patients were homozygous for a COH1, exon 6-16 deletion suggesting a founder effect. We present the results of their first systematic ophthalmologic assessment.

Deferasirox administration for the treatment of non-transfusional iron overload in patients with thalassaemia intermedia.

Abnormal iron regulation in patients with thalassaemia intermedia may lead to iron overload even in the absence of transfusions. There are limited data on iron chelator use in patients with thalassaemia intermedia and no guidelines exist for the management of iron overload. We present data from 11 patients with thalassaemia intermedia treated with deferasirox (Exjade(®) , 10-20 mg/kg/d) for 24 months.

Relationship between eating behavior, breakfast consumption, and obesity among Finnish and Greek adolescents.

Objective: To investigate the relationship between eating-related behaviors, particularly breakfast consumption, and weight status in Finnish and Greek adolescents.

Methods: A total of 6,468 16-year-old Finnish adolescents and 2,842 17- and 18-year-old Greek adolescents, based on the latest follow-up of 2 population-based cohorts, were studied. Univariate analysis examined the associations between breakfast consumption, family meals, emotional eating, bingeing, and weight status in both populations.

Knowledge and attitudes towards prenatal diagnostic procedures among pregnant women in Greece.

Objective: To assess knowledge and attitudes towards prenatal diagnostic procedures among pregnant women living in Greece who underwent amniocentesis or chorionic villus sampling in relation to underlying demographic, lifestyle and medical history predictors.

Method: 354 women, upon receiving the results, were interviewed in person. A structured questionnaire was answered based upon sociodemographic, educational, lifestyle and medical history variables, as well as questions pertaining to the women's knowledge, use and opinion of prenatal tests.

Successful hematopoietic stem cell transplantation in 2 children with X-linked chronic granulomatous disease from their unaffected HLA-identical siblings selected using preimplantation genetic diagnosis combined with HLA typing.

We report 2 children with X-linked chronic granulomatous disease (X-CGD) who underwent hematopoietic stem cell transplantation (HSCT) using grafts from their siblings selected before implantation to be both unaffected and HLA-matched donors. Preimplantation genetic diagnosis (PGD) along with HLA-typing were performed on preimplantation embryos by single-cell multiplex polymerase chain reaction using informative short tandem repeat markers in the HLA locus together with the gene region containing the mutations. Two singleton pregnancies resulted from the intrauterine transfer of selected embryos; these developed to term, producing 1 healthy female and 1 X-CGD carrier female, which are HLA-identical siblings to the 2 affected children.

Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.

Mutations in the NPHS2 gene, encoding podocin, are a major cause of autosomal-recessive steroid-resistant nephrotic syndrome (SRNS) in childhood, accounting for up to 30% of sporadic and 20-40% of familial cases. Among 22 Greek children with a clinical diagnosis of SRNS, mutation analysis was performed in all eight NPHS2 gene exons, using denaturing gradient gel electrophoresis and DNA sequencing. The frequency of all nucleotide variations found in patients was also evaluated in 100 unrelated samples (18-30 years) with no known history of nephrotic disease.

Parental stress affects the emotions and behaviour of children up to adolescence: a Greek prospective, longitudinal study.

Systematic research about the continuity of mental health problems from childhood to adolescence is limited, but necessary to design effective prevention and intervention strategies. We used a population-based representative sample of Greek adolescents, followed-up from birth to the age of 18 years, to assess early influences on and the persistence of mental health problems in youth. We examined the role of peripartum, early development and parental characteristics in predicting mental health problems in childhood and adolescence.