Specificity of phonological representations in school-age high-functioning ASD children.

Purpose: Well-specified phonological representations are important for the development of spoken and written language. This study investigates the types of speech errors and the quality of phonological representations in Greek-speaking school-age children with high-functioning autism spectrum disorder (HF-ASD), as well as the relationship between stored phonological representations and speech output in this sample, according to Stackhouse and Wells' (1997) model.

Method: All participants completed a phonological and a naming test, and a non-word repetition task.

Theophrastus's "Anaisthetos" ("The Obtuse Man"): the oldest "phenomenological" description of neurodevelopmental disorders in an adult.

Theophrastus (381-278 B.C.), was the first to adopt the term character for the description of distinct inner psychological and moral features of an individual.

Strategic decision making and prediction differences in autism.

Background: Several theories in autism posit that common aspects of the autism phenotype may be manifestations of an underlying differentiation in predictive abilities. The present study investigates this hypothesis in the context of strategic decision making in autistic participants compared to a control group.

Method: Autistic individuals (43 adults, 35 male) and a comparison group (42 adults, 35 male) of age and gender matched individuals, played a modified version of the prisoner's dilemma (PD) task where they were asked, if capable, to predict their opponents' move.

Left atrial deformation indices in β-thalassemia major patients.

The presence of atrial cardiomyopathy in β-thalassemia major (β-TM) patients complicates their clinical condition. The diagnosis is challenging even with cardiac magnetic resonance (CMR) imaging. Novel echocardiographic techniques are applied to increase the diagnostic yield.

Autoimmune pulmonary alveolar proteinosis in children.

In childhood, a multitude of causes lead to pulmonary alveolar proteinosis (PAP), an excessive surfactant accumulation in the alveolar space, limiting gas exchange. Autoantibodies against granulocyte-macrophage colony-stimulating factor (GM-CSF) causing autoimmune PAP, the principal aetiology in adults, are rare. In this first case series on autoimmune PAP, we detail the presentation and management issues of four children.

High risk factors for craniosynostosis during pregnancy: A case-control study.

Background: Craniosynostosis is a birth defect involving premature cranial sutures' fusion with an increasing prevalence and unknown underlying causes in nearly 80% of cases. The current study investigates a series of high-risk factors associated with a non-syndromic craniosynostosis.

Methods: Ninety-seven (97) children were included in the retrospective case-control study, 62 controls and 35 with craniosynostosis.

Development of a Population Pharmacokinetic Model of Busulfan in Children and Evaluation of Different Sampling Schedules for Precision Dosing.

We develop a population pharmacokinetic model to describe Busulfan pharmacokinetics in paediatric patients and investigate by simulations the impact of various sampling schedules on the calculation of AUC. Seventy-six children had 2 h infusions every 6 h. A two-compartment linear model was found to adequately describe the data.

Vulnerability of β-Thalassemia Heterozygotes to COVID-19: Results from a Cohort Study.

Background: The assignment of mortality risk from SARS-CoV-2 virus (COVID-19) to vulnerable patient groups is an important step toward containment of the pandemic. Methods: A total of 760 patients with a positive molecular test for SARS-CoV-2 who were unvaccinated against COVID-19 were recruited between 1 January and 30 June 2021. Patients were grouped by age; sex; and common morbidities, such as atrial fibrillation, chronic respiratory disease, coronary disease, diabetes type II, neoplasia, hypertension and β-Thalassemia heterozygosity.

mPD: Introduction of a single player prisoner's dilemma application for medical experiments.

Background: Prisoner's dilemma is one of the most popular concepts among scientific literature. In medical literature the majority of prisoner's dilemma experiments with human participants implement computerized means. Despite this, there is no shared validated tool for prisoner's dilemma tasks.

Functional Gastrointestinal Disorders in Mediterranean Countries According to Rome IV Criteria.

Objectives: The aim of this study was to assess the prevalence of functional gastrointestinal disorders (FGIDs) in children of Mediterranean area using Rome IV criteria and to compare the prevalence of FGIDs using Rome IV and Rome III criteria.

Methods: This was a cross-sectional study enrolling children and adolescents living in Croatia, Greece, Israel, Italy, Macedonia, and Serbia. Subjects were examined in relation to the presence of FGIDs, using the Rome IV criteria.

Factors of influence in prisoner's dilemma task: a review of medical literature.

The Prisoner's Dilemma (PD) is one of the most popular concepts amongst the scientific literature. The task is used in order to study different types of social interactions by giving participants the choice to defect or cooperate in a specific social setting/dilemma. This review focuses on the technical characteristics of the PD task as it is used in medical literature and describes how the different PD settings could influence the players' behaviour.

Allogeneic hematopoietic stem cell transplantation in infants is associated with significant morbidity and mortality.

Background: Infants are subjected to hematopoietic stem cell transplantation (HSCT) due to malignant and non-malignant diseases. However, specific data concerning the outcome and transplantation-related complications in infants, as a separate age group, are limited. Our aim was to evaluate the impact of infancy on the outcome, toxicity, and complications after HSCT.

Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients.

Background: Facioscapulohumeral muscular dystrophy is the third most commonly found type of muscular dystrophy. The aim of this study was to correlate the D4Z4 repeat array fragment size to the orofacial muscle weakening exhibited in a group of patients with a genetically supported diagnosis of FSHD.

Methods: Molecular genetic analysis was performed for 52 patients (27 female and 25 male) from a group that consisted of 36 patients with autosomal dominant pedigrees and 16 patients with either sporadic or unknown family status.

Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants.

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by pathogenic variants in seven genes involved in the cortisol and aldosterone biosynthetic pathway. The second most common cause, 11β-hydroxylase deficiency (11βOHD), is attributed to pathogenic variants in the CYP11B1 gene encoding for the enzyme 11β-hydroxylase (11βOH).

Case Presentation: A 13-year-old girl was referred to the pediatric endocrinologist due to a syncopal episode.

Secondary mechanisms of injury and viable pathophysiological targets in intracerebral hemorrhage.

Intracerebral hemorrhage (ICH) can be divided into a primary and secondary phase. In the primary phase, hematoma volume is evaluated and therapies are focused on reducing hematoma expansion. In the secondary, neuroprotective phase, complex systemic inflammatory cascades, direct cellular toxicity, and blood-brain barrier disruption can result in worsening perihematomal edema that can adversely affect functional outcome.

Venous Thromboembolism Risk and Thromboprophylaxis in Pediatric Neurosurgery and Spinal Injury: Current Trends and Literature Review.

Although the entities of venous thromboembolism (VTE), deep venous thrombosis, pulmonary embolus, and thromboprophylaxis in adult patients undergoing brain tumor and spine surgery, traumatic brain injury and elective neurosurgical procedures are widely elucidated, the same is not valid when pediatric patients are under consideration. An attempt to review the peculiarities of these patients through a comprehensive bibliographic review is undertaken. We performed a narrative summary of the relevant literature dedicated to pediatric patients, centered on traumatic brain injury, the general incidence of thromboembolic disease in this patient population, the role of low molecular weight heparin (LMWH) in the treatment and prophylaxis of VTE, and its role in elective neurosurgical procedures, including spinal operations.

Children living with HIV in Europe: do migrants have worse treatment outcomes?

Objectives: To assess the effect of migrant status on treatment outcomes among children living with HIV in Europe.

Methods: Children aged < 18 years at the start of antiretroviral therapy (ART) in European paediatric HIV observational cohorts where ≥ 5% of children were migrants (defined as born abroad) were included. Three outcomes were considered: (i) severe immunosuppression-for-age; (ii) viraemic viral load (≥ 400 copies/mL) at 1 year after ART initiation; and (iii) AIDS/death after ART initiation.

Susceptibility of β-Thalassemia Heterozygotes to COVID-19.

Background: β-Thalassemia is the most prevalent single gene blood disorder, while the assessment of its susceptibility to coronavirus disease 2019 (COVID-19) warrants it a pressing biomedical priority.

Methods: We studied 255 positive COVID-19 participants unvaccinated against severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2), consecutively recruited during the last trimester of 2020. Patient characteristics including age, sex, current smoking status, atrial fibrillation, chronic respiratory disease, coronary disease, diabetes, neoplasia, hyperlipidemia, hypertension, and β-thalassemia heterozygosity were assessed for COVID-19 severity, length of hospitalization, intensive care unit (ICU) admission and mortality from COVID-19.

Cardiovascular Magnetic Resonance Reveals Cardiac Pathophysiology in Autoimmune Rheumatic Diseases.

Background/aims: The high incidence of cardiovascular disease (CVD) in patients with autoimmune rheumatic diseases (ARDs) is the main driver towards increased mortality in this patient group. Cardiovascular magnetic resonance (CMR) can non-invasively and robustly detect CVD in ARD patients at an early stage of development. The review summarises the diagnostic information provided by CMR in ARD patients.

Aetiology of acute respiratory infection in preschool children requiring hospitalisation in Europe-results from the PED-MERMAIDS multicentre case-control study.

Background: Both pathogenic bacteria and viruses are frequently detected in the nasopharynx (NP) of children in the absence of acute respiratory infection (ARI) symptoms. The aim of this study was to estimate the aetiological fractions for ARI hospitalisation in children for respiratory syncytial virus (RSV) and influenza virus and to determine whether detection of specific respiratory pathogens on NP samples was associated with ARI hospitalisation.

Methods: 349 children up to 5 years of age hospitalised for ARI (following a symptom-based case definition) and 306 hospital controls were prospectively enrolled in 16 centres across seven European Union countries between 2016 and 2019.

Dose individualization of intravenous busulfan in pediatric patients undergoing bone marrow transplantation: impact and in vitro evaluation of infusion lag-time.

Objectives: To apply therapeutic drug monitoring and dose-individualization of intravenous Busulfan to paediatric patients and evaluate the impact of syringe-pump induced Busulfan infusion lag-time after in vitro estimation.

Methods: 76 children and adolescents were administered 2 h intravenous Busulfan infusion every 6 h (16 doses). Busulfan plasma levels, withdrawn by an optimized sampling scheme and measured by a validated HPLC-PDA method, were used to estimate basic PK parameters, AUC, Cmax, kel, t1/2, applying Non-Compartmental Analysis.