SMARCB1-deficient malignant melanocytic uveal tumours: a new neural crest-derived tumour entity with SMARCB1-related germline predisposition.

Rhabdoid tumours (RT) are an aggressive malignancy affecting <2-year-old infants, characterised by biallelic loss-of-function alterations in SWI/SNF-related BAF chromatin remodelling complex subunit B1 (SMARCB1) in nearly all cases. Germline SMARCB1 alterations are found in ~30% of patients and define the RT Predisposition Syndrome type 1 (RTPS1). Uveal melanoma (UVM), the most common primary intraocular cancer in adults, does not harbour SMARCB1 alterations.

Expression of Leukemia Inhibitory Factor (LIF) and p53 on Human Fetal Lung After Chorioamnionitis Suffering.

Introduction: Maternal infections such as chorioamnionitis could impact fetal lung development by altering cell proliferation and apoptosis. Chorioamnionitis favors the multiple pleiotropic cytokines production such as LIF (leukemia inhibitory factor) and an inflammation-related protein p53. The cytokine production can lead to lung tissue damage and lung disease development.

A Multicenter ICET-A Survey on Adherence to Annual Oral Glucose Tolerance Test (OGTT) Screening in Transfusion-Dependent Thalassemia (TDT) Patients - The Expert Clinicians' Opinion on Factors Influencing the Adherence and on Alternative Strategies for Adherence Optimization.

Background: Current guidelines for screening glucose dysregulation (GD) in patients with transfusion-dependent thalassemia (TDT) recommend an annual 2-hour oral glucose tolerance test (OGTT) starting at the age of 10 years.

Objective: Assessment of adherence to OGTT screening in patients with TDT.

Methods: A questionnaire was distributed to 18 Thalassemia Centers in 10 different countries, targeting factors influencing adherence to annual OGTT screening in specialized multidisciplinary pediatric and adult TDT units and identifying strategies to improve adherence to OGTT in TDT patients.

Kenny-Caffey Syndrome Type 2 (KCS2): A New Case Report and Patient Follow-Up Optimization.

Kenny-Caffey syndrome 2 (KCS2) is a rare cause of hypoparathyroidism, inherited in an autosomal dominant mode, resulting from pathogenic variants of the gene, which is implicated in intracellular pathways regulating parathormone (PTH) synthesis and skeletal and parathyroid gland development. : The case of a boy is reported, presenting with the characteristic and newly identified clinical, biochemical, radiological, and genetic abnormalities of KCS2. : The proband had noticeable dysmorphic features, and the closure of the anterior fontanel was delayed until the age of 4 years.

A cluster of pediatric vaccine-induced immune thrombotic thrombocytopenia-like cases with thrombosis and thrombocytopenia following respiratory infections-case series.

Background: Adenoviral vector COVID-19 vaccine-induced immune thrombotic thrombocytopenia (VITT) is a heparin-independent platelet-activating disorder. An increasing number of VITT-like disorders without previous vaccination are being identified.

Key Clinical Question: To explore the association of the pediatric cluster of postinfectious thrombosis and thrombocytopenia with VITT-like disorders.

Pulmonary manifestations of Pseudohypoaldosteronism type 1b: A systematic review of the literature.

Introduction: Pseudohypoaldosteronism type 1b (PHA1B) is a rare autosomal recessive disease caused by dysfunction of amiloride-sensitive epithelial sodium channels (ENaC), that might present with a wide variety of pulmonary symptoms.

Methods: We provide a systematic review of published cases with PHA1B and respiratory symptoms, adding a relevant case from our clinic.

Results: Thirty-seven publications presenting 61 cases were identified apart from our case.

Clinical Course of a Child With Cystic Fibrosis and the Genotype F508del/CFTRdup1_11: A Case Report.

Cystic fibrosis (CF) is a hereditary disease with great genetic complexity as not all mutations are disease-causing and genotype doesn't always predict phenotype. This case involves a child with CF and genotype F508del/CFTRdup1_11. The CFTRdup1_11 duplication was not reported previously, and genetic counseling was based on reports describing the clinical course of people carrying smaller duplications of the same area combined with F508del.

Evaluation of the influenza-like illness case definition and the acute respiratory infection case definition in the diagnosis of influenza and COVID-19 in healthcare personnel.

Background: To evaluate the influenza-like illness (ILI) and acute respiratory infection (ARI) case definitions in the diagnosis of COVID-19 and influenza in healthcare personnel (HCP).

Methods: We followed a cohort of 5752 HCP from November 2022 to May 2023. Symptomatic HCP were tested for SARS-CoV-2 and influenza by real-time PCR and/or rapid antigen detection test.

Attitudes and Practices of Dietitians Regarding Gut Microbiota in Health-An Online Survey of the European Federation of the Associations of Dietitians (EFAD).

Explorations of the current attitudes and practices of dietitians regarding the gut microbiota in health are scarce. In this online survey, we assessed the attitudes and practices of dietitians across Europe concerning gut microbiome parameters and the manipulation of the gut microbiota. Pre-graduate dietetic students and other professionals were also invited to participate.

Onabotulinumtoxina in the Prevention of Migraine in Pediatric Population: A Systematic Review.

Migraine is a leading cause of disability worldwide, yet it remains underrecognized and undertreated, especially in the pediatric and adolescent population. Chronic migraine occurs approximately in 1% of children and adolescents requiring preventive treatment. Topiramate is the only FDA-approved preventative treatment for children older than 12 years of age, but there is conflicting evidence regarding its efficacy.

Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion.

Nablus mask-like facial syndrome (NMLFS) is a rare condition characterized by unique facial features, initially described in a 4-year-old boy from Nablus, Palestine. These features include expressionless facial appearance, tight facial skin, blepharophimosis, sparse eyebrows, and a flat nose. Genetic studies have identified a deletion of 8q22.

Clinical Importance of Focal Adhesion Kinase (FAK)-Src and Paxillin Expression in Renal Cell Carcinoma.

Background And Objective: The complex focal adhesion kinase (FAK)/Src and paxillin seem to play a key role in the pathogenesis and progression of cancer. The aim of this study is to evaluate the expression of these proteins in renal cell carcinomas (RCCs), considering the immunoreactive score (IRS), the positivity and the intensity, and to find any association with patients' clinical characteristics, histologic type and other pathological features that imply a possible pathophysiological or prognostic role of FAK/Src and paxillin in RCC.

Methods: Patients with RCC who had undergone partial or radical nephrectomy from January 2009 to September 2010 were eligible for this retrospective cross-sectional study.

ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies.

Ataxia-telangiectasia (A-T) is an autosomal-recessive disorder caused by pathogenic variants (PVs) of the ATM gene, predisposing children to hematological malignancies. We investigated their characteristics and outcomes to generate data-based treatment recommendations. In this multinational, observational study we report 202 patients aged ≤25 years with A-T and hematological malignancies from 25 countries.

Comparison of morbidity and absenteeism due to COVID-19 and seasonal influenza in a large cohort of health care personnel in the 2022 to 2023 season.

Background: To compare the morbidity and work absenteeism associated with coronavirus disease 2019 (COVID-19) and influenza among health care personnel (HCP) in 2022 to 2023.

Methods: We followed 5,752 hospital-based HCP in Greece from November 14, 2022 through May 28, 2023. Symptomatic HCP was tested for SARS-CoV-2 and influenza by real-time polymerase chain reaction and/or rapid antigen detection test.

Helicobacter pylori infection found during upper endoscopy performed for the diagnosis of celiac, inflammatory bowel diseases, and eosinophilic esophagitis: A multicenter pediatric European study.

Background: Helicobacter pylori may be found during upper gastrointestinal endoscopy (UGE) performed to diagnose celiac disease (CeD), inflammatory bowel disease (IBD), and eosinophilic esophagitis (EoE). We aimed to describe the frequency of H. pylori in children undergoing UGE for CeD, IBD, and EoE and the number of children receiving eradication treatment.

Effectiveness of COVID-19 booster vaccination, morbidity and absenteeism among healthcare personnel during the 2022-2023 season dominated by Omicron BA.5 and BA.2 subvariants.

Aim: We assessed the vaccination effectiveness (VE) of a COVID-19 booster vaccine dose and the association between morbidity and absenteeism with COVID-19 booster vaccine receipt among healthcare personnel (HCP) in 2022-2023 in Greece.

Methods: We followed 5752 HCP from November 14, 2022 through May 28, 2023 for episodes of absenteeism. Absenteeism for non-infectious causes, pregnancy leave, or annual leave was not recorded.