Dual Mechanisms of Metabolism and Gene Expression of the CCRF-CEM Leukemia Cells under Glucocorticoid Treatment.

Background: Glucocorticoids play an essential part in anti-leukemic therapies, but resistance is a crucial event for the prognosis of the disease. Glucocorticoids influence the metabolic properties of leukemic cells. The inherent plasticity of clinically evolving cancer cells justifies the characterization of drug-induced early oncogenic pathways, which represent a likely source of detrimental secondary effects.

Aquagenic wrinkling of the palms after brief immersion to water test as a screening tool for cystic fibrosis diagnosis.

Background: Aquagenic wrinkling of the palms (AWP) is an excessive and early palmar wrinkling occurring after Brief Immersion to Water (BIW), and has been reported as a frequent finding among cystic fibrosis (CF) patients.

Objectives: To evaluate and assess the diagnostic performance of BIW test as an initial screening tool for CF diagnosis.

Methods: We measured AWP in CF patients, CF-heterozygotes (CF-het) and normal controls.

Determinants of intention to get vaccinated against COVID-19 among healthcare personnel in hospitals in Greece.

Background: To investigate intention rates to get vaccinated against COVID-19 among healthcare personnel (HCP) in Greece.

Methods: Cross-sectional survey.

Results: The response rate was 14.

Epidemiological Data, Serovar Distribution and Antimicrobial Resistance Patterns of Salmonella Species in Children, Greece 2011-2017: A Retrospective Study.

Objective: This study aimed to describe Salmonella epidemiology and antimicrobial resistance in Greek children over the period of 2011-2017.

Materials And Methods: A 7-year retrospective study (2011-2017) was performed, based on data recorded by the National Reference Centre for Salmonella, among children aged ≤14 years. Epidemiological data, serovar distribution and antimicrobial resistance patterns were recorded.

Dystonia assessment in children with cerebral palsy and periventricular leukomalacia.

Objective: To describe the frequency, motor phenotype, clinical patterns and functional consequences of dystonia in patients with cerebral palsy (CP) in the setting of periventricular leukomalacia.

Methods: Retrospective analysis of a cohort of 31 patients with CP and periventricular leukomalacia. Gross Motor Function Classification System (GMFCS) and Manual Ability Classification System (MACS) were used to classify functional ability.

Pharyngeal sampling for PCR-testing in the investigation of SARS-COV-2 vertical transmission in pregnancy.

The novel COVID-19 global pandemic has raised, among many others, major concerns regarding the impact of infection during pregnancy. Current evidence suggests that vertical transmission from mother to baby, antenatally or intrapartum, does occur, but is uncommon. According to the published reports of infants born to COVID-19-affected mothers, as well as the anecdotal experience of current practices worldwide, it appears that investigations regarding the potential of SARS-COV-2 vertical transmission in pregnancy have so far been based, to a large extent, on PCR testing of neonatal pharyngeal swab samples.

Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group.

The rhabdoid tumor (RT) predisposition syndromes 1 and 2 (RTPS1 and 2) are rare genetic conditions rendering young children vulnerable to an increased risk of RT, malignant neoplasms affecting the kidney, miscellaneous soft-part tissues, the liver and the central nervous system (Atypical Teratoid Rhabdoid Tumors, ATRT). Both, RTPS1&2 are due to pathogenic variants (PV) in genes encoding constituents of the BAF chromatin remodeling complex, i.e.

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.

Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion disease (MVID). MVID is an intractable diarrhea of infantile onset with characteristic histopathologic findings that requires life-long parenteral nutrition or intestinal transplantation.

Children and Adolescents With SARS-CoV-2 Infection: Epidemiology, Clinical Course and Viral Loads.

Background: There is limited information on severe acute respiratory syndrome virus 2 (SARS-CoV-2) infection in children.

Methods: We retrieved data from the national database on SARS-CoV-2 infections. We studied in-family transmission.

A Case Series of BCOR Sarcomas With a New Splice Variant of Fusion Gene.

Background/aim: Undifferentiated round cell sarcomas are a heterogeneous group of sarcomas. Identification of BCOR alterations, such as BCOR/CCNB3 and BCOR/MAML3 fusion genes and BCOR ITD has recently contributed in the precise diagnosis of these neoplasms, defining a new entity of the current classification of soft tissue and bone sarcomas. BCOR sarcomas share both morphological and genetic characteristics distinct from Ewing sarcomas.

Transmission dynamics of SARS-CoV-2 within families with children in Greece: A study of 23 clusters.

There is limited information on severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection clustering within families with children. We aimed to study the transmission dynamics of SARS-CoV-2 within families with children in Greece. We studied 23 family clusters of coronavirus disease 2019 (COVID-19).

Long-term outcome of differentiated thyroid cancer in children and young adults: risk stratification by ATA criteria and assessment of pre-ablation stimulated thyroglobulin as predictors of disease persistence.

Purpose: Differentiated thyroid cancer (DTC) has an increasing incidence in childhood and adolescence but long-term outcome data are limited. We aimed to identify possible risk factors associated with disease persistence, with special focus on the usefulness of ATA risk stratification system and pre-ablation stimulated thyroglobulin (Tg) levels.

Methods: We retrospectively studied 103 patients, 79 females (76.

Management of mitochondrial diabetes in the era of novel therapies.

Mitochondrial disorders refer to the complex group of conditions affecting energy metabolism. A number of mitochondrial disorders can lead to the development of diabetes mellitus, and mitochondrial diabetes is thought to account for up to 3% of all diabetes mellitus cases. Depending on the degree of preservation of beta cell secretory capacity and peripheral muscle insulin sensitivity, the phenotype of mitochondrial diabetes may resemble that of type 1 or type 2 diabetes.

Event-related EEG oscillations in body dysmorphic disorder.

Background: Patients with body dysmorphic disorder (BDD) exhibit differential attentional mechanisms compared to healthy subjects. The exact nature of this differentiation is unclear. To this end, EEG (electrophysiological) responses to prepulse inhibition (PPI: reflecting attentional modulation) and prepulse facilitation (PPF: indicating orienting activation) were recorded and analysed.

Perinatal Reduced Blood Concentrations of Free Carnitine and Acylcarnitines in Infants with Cystic Fibrosis.

Objective: Cystic fibrosis (CF) is a multisystemic inherited disease. The aim of this study was to determine free carnitine (FC) and acylcarnitine concentrations in CF newborns with various mutations of the gene perinatally.

Study Design: FC/acylcarnitines were determined in dried blood spots via liquid chromatography-tandem mass spectrometry (LC-MS/MS) on the third day of life of full-term normal ( = 50) and CF ( = 28) newborns.

Synergistic effects of early life mild adversity and chronic social defeat on rat brain microglia and cytokines.

Exposure to early life stress affects the development and function of the brain and when followed by adversities in adulthood, the negative effects of stress are enhanced. Microglia has been proposed as a potential mediator of this phenomenon. In the present study, we investigated the long-term effects of mild early life stress, the consequences of a stressor in adulthood as well as their interaction on microglial and cytokine (PPARγ, IL-1β and TNFα) levels in the brain of adult male rats.

High resolution Chromosomal Microarray Analysis (CMA) enhances the genetic profile of pediatric B-cell Acute Lymphoblastic Leukemia patients.

Acute Lymphoblastic Leukemia (ALL) is a malignancy of the immature lymphoid cells mainly associated with numerical and structural chromosomal aberrations. The current standard for profiling the diverse genetic background comprises a combination of conventional karyotype and FISH analysis for the most common translocations, albeit with many limitations. Chromosomal Microarray Analysis (CMA) is a high throughput whole genome method that is gradually implemented in routine clinical practice, but not many studies have compared the two methods.

A prospective study on the epidemiology and clinical significance of viral respiratory infections among pediatric oncology patients.

Respiratory infections in oncology are both common and potentially severe. However, there is still a gap in the literature, regarding the epidemiology of viral respiratory infections in children with cancer. We prospectively enrolled 224 patients, from September 2012 to August 2015.

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.

Pneumococcal Vaccines: Challenges and Prospects.

Infections with the bacterium are one of the most common causes of morbidity and mortality in children less than five years of age worldwide, mostly in low- and middle-income countries (LMICs) [...

Congenital Hypopituitarism: Various Genes, Various Phenotypes.

The ontogenesis and development of the pituitary gland is a highly complex process that depends on a cascade of transcription factors and signaling molecules. Spontaneous mutations and transgenic murine models have demonstrated a role for many of these factors, including , , , , , , , , , , , and in the etiology of congenital hypopituitarism. Genetic mutations in any of these factors can lead to congenital hypopituitarism, which is characterized by the deficiency in one or more pituitary hormones.

The Role of Serotype-Specific Immunological Memory in Pneumococcal Vaccination: Current Knowledge and Future Prospects.

(, pneumococcus) is a major cause of morbidity and mortality worldwide. Achieving long-term immunity against through immunization is an important public health priority. Long-term protection after immunization is thought to rely both on protective serum antibody levels and immunological memory in the form of antigen-specific memory B cells (MBCs).

Antibody persistence 5 years after a 13-valent pneumococcal conjugate vaccine in asplenic patients with β-thalassemia: assessing the need for booster.

Streptococcus pnemoniae is a major cause of morbidity and mortality among splenectomised patients with β-thalassemia major. We have previously shown that a 13-valent pneumococcal conjugate vaccine (PCV13) induces robust early immune responses in such patients, while history of repeated immunisations with the 23-valent polysaccharide pneumococcal vaccine (PPSV23) results in attenuation of the response to PCV13. However, the duration of vaccine-induced protection in splenectomised thalassemic patients and the associated need for booster immunisation remains unclear.