Monocytes across life span in hiv infection: lights and shadows.

Purpose Of Review: This review highlights the role of monocytes in the pathogenesis of HIV-1 infection, focusing on their involvement in the inflammatory response and their function as viral targets and long-term reservoirs.

Recent Findings: Monocytes have been categorized into three subsets: classical, intermediate, and nonclassical, each with distinct functional characteristics. Advances in genetic sequencing technologies have enabled a more in-depth exploration of the phenotypic and functional variations among these subsets, particularly in the context of HIV.

Modulatory Effect of Cucurbitacin D from on ZNF217 Oncogene Expression in NPM-Mutated Acute Myeloid Leukemia.

The expression of oncogene zinc-finger protein 217 (ZNF217) has been reported to play a central role in cancer development, resistance, and recurrence. Therefore, targeting ZNF217 has been proposed as a possible strategy to fight cancer, and there has been much research on compounds that can target ZNF217. The present work investigates the chemo-preventive properties of cucurbitacin D, a compound with a broad range of anticancer effects, in hematological cancer cells, specifically with regard to its ability to modulate ZNF217 expression.

Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells.

Laminopathies represent a wide range of genetic disorders caused by mutations in gene-encoding proteins of the nuclear lamina. Altered nuclear mechanics have been associated with laminopathies, given the key role of nuclear lamins as mechanosensitive proteins involved in the mechanotransduction process. To shed light on the nuclear partners cooperating with altered lamins, we focused on Src tyrosine kinase, known to phosphorylate proteins of the nuclear lamina.

Bleeding Symptoms in Pediatric Patients with Congenital FVII Deficiency and Correlation to Thrombin Generation Assay Parameters: A Single-Center Retrospective Analysis.

Inherited factor VII deficiency is the most common rare bleeding disorder, affecting about 1/500,000 individuals without gender predilection. Most of the patients with FVII 20-50% are asymptomatic, but post-traumatic or post-surgical bleeding may often occur since there is not an exact correlation between FVII plasma levels and the bleeding phenotype. We enrolled 19 children and adolescents with FVII levels of 20-35% and 33 controls.

Dysregulation Profile in Preschoolers with Autism Spectrum Disorder: An Italian Multi-Center Perspective.

: Autism Spectrum Disorder (ASD) is a lifelong neurodevelopmental condition characterized by social communication impairments and repetitive behaviors. Recent reports show that one in thirty-six 8-year-old children are autistic, signifying a considerable public health concern. According to previous studies, emotional dysregulation (ED) affects 50-60% of individuals with ASD and includes symptoms such as poor emotional control, heightened reactivity, and a low frustration tolerance.

Extracorporeal Membrane Oxygenation as Life Support in Neonatal Respiratory Failure: A Single-Center Cohort Study and a Systematic Review.

Background: Extracorporeal membrane oxygenation (ECMO) is a life support in newborns with severe respiratory failure. Our main objective was to evaluate the mortality of patients and define positive and negative predictive factors of survival.

Methods: We performed a Strengthening the Reporting of Observational Studies in Epidemiology (STROBE)-conformed retrospective observational study and a systematic review, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA).

Two Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report.

The glycosylphosphatidylinositol (GPI) is a glycol-lipid that anchors several proteins to the cell surface. The GPI-anchor pathway is crucial for the correct function of proteins involved in cell function, and it is fundamental in early neurogenesis and neural development. The PIG gene family is a group of genes involved in this pathway with six genes identified so far, and defects in these genes are associated with a rare inborn metabolic disorder manifesting with a spectrum of clinical phenotypes in newborns and children.

Non-Invasive Ventilation Failure in Pediatric ICU: A Machine Learning Driven Prediction.

: Non-invasive ventilation (NIV) has emerged as a possible first-step treatment to avoid invasive intubation in pediatric intensive care units (PICUs) due to its advantages in reducing intubation-associated risks. However, the timely identification of NIV failure is crucial to prevent adverse outcomes. This study aims to identify predictors of first-attempt NIV failure in PICU patients by testing various machine learning techniques and comparing their predictive abilities.

Two Novel Biallelic Variants in the Gene: The First Italian Case and a Literature Review.

: The gene encodes for the catalytic α subunit of Cytoplasmic phenylalanine-tRNA synthetase (FARS1), an essential enzyme for protein biosynthesis in transferring its amino acid component to tRNAs. Biallelic pathogenic variants have been associated with a multisystemic condition, characterized by variable expressivity and incomplete penetrance. Here, we report the case of an 11 year-old girl presenting interstitial lung disease, supratentorial leukoencephalopathy with brain cysts, hepatic dysfunction, hypoalbuminemia, skin and joint hyperlaxity, growth retardation, and dysmorphic features.

Integrating Diagnostic Approaches in Infant Bacterial Meningitis Caused by a Non-K1 : A Case Report.

Background: Infant meningitis, particularly caused by , remains a life-threatening condition, especially in premature and low-weight infants. Infections of the central nervous system can be fatal, necessitating prompt diagnosis and appropriate treatment. Acute infections caused by various pathogens, including , often present with similar clinical symptoms.

Alterations in Glutathione Redox Homeostasis in Metabolic Dysfunction-Associated Fatty Liver Disease: A Systematic Review.

Low molecular weight (LMW) thiols, particularly glutathione, play pathogenic roles in various multiorgan diseases. The liver is central for the production and systemic distribution of LMW thiols; thus, it is particularly susceptible to the imbalance of redox status that may determine increased oxidative stress and trigger the liver damage observed in metabolic dysfunction-associated steatotic liver disease (MASLD) models and humans. Indeed, increased LMW thiols at the cellular and extracellular levels may be associated with the severity of MASLD.

Stereo-EEG around the world: State of the art in Italy.

Stereo-EEG is not just a diagnostic examination but a complex methodology, requiring an accurate synthesis of many data (anatomical, clinical, neurophysiological, cognitive, metabolic, and genetic). The implantation scheme is decided based on a hypothesis (or hypotheses) of epileptogenic zone localization. Subsequently, intracerebral electrical stimulation is used to define the extent of highly functional cortical regions and to reproduce the clinical symptoms and signs associated with seizures.

Asynchronous Transitions from Hepatoblastoma to Carcinoma in High-Risk Pediatric Tumors.

Most malignant hepatocellular tumors in children are classified as either hepatoblastoma (HB) or hepatocellular carcinoma (HCC), but some tumors demonstrate features of both HB and HCC. These tumors have been recognized under a provisional diagnostic category by the World Health Organization and are distinguished from HB and HCC by a combination of histological, immunohistochemical, and molecular features. Their outcomes and cellular composition remain an open question.

Human Growth Hormone (GH) use by Athletes with Short Stature without GH Deficiency: Therapeutic Use Exemptions.

Organized sports are governed by specific rules which aim to create or preserve fair play. An unfair advantage can be obtained by the use of specific substances or methods, also referred to as doping. The World Anti-Doping Agency (WADA) leads the international doping-free sport movement and annually publishes the List of Prohibited Substances and Methods (List), that is used by most sport federations and organizations around the world.

Imagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research Society.

Down syndrome (DS) or trisomy 21 (T21) is present in a significant number of children and adults around the world and is associated with cognitive and medical challenges. Through research, the T21 Research Society (T21RS), established in 2014, unites a worldwide community dedicated to understanding the impact of T21 on biological systems and improving the quality of life of people with DS across the lifespan. T21RS hosts an international conference every two years to support collaboration, dissemination, and information sharing for this goal.

Childhood heart disease and parental emotional wellbeing: a predictive model to explain the perception of quality of life in children and adolescents.

Background: The number of people living with congenital heart disease (CHD) in 2017 was estimated to be 12 million, which was 19% higher than that in 1990. However, their death rate declined by 35%, emphasizing the importance of monitoring their quality of life due to its impact on several patient outcomes. The main objective of this study is to analyze how parents' psychosocial factors contribute to children's and adolescents' perceptions of their QoL, focusing on their medical condition.

Oral Food Challenge Protocols in Food Protein-Induced Enterocolitis Syndrome: A Systematic Review.

Background: Oral Food Challenges (OFC) are essential for the diagnosis and follow-up of acute Food Protein-Induced Enterocolitis Syndrome (FPIES) because no diagnostic or prognostic biomarkers are available. However, the optimal OFC procedure remains unclear.

Objectives: This systematic review aimed to assess OFC procedures' design and clinical outcomes in patients with FPIES.

Anti-PD1 therapies induce an early expansion of Ki67CD8 T cells in metastatic non-oncogene addicted NSCLC patients.

Pembrolizumab (an anti-PD1 antibody) alone or combined with chemotherapy represented the standard of care for advanced non-oncogene addicted non-small cell lung cancer (NSCLC) patients. These therapies induced early modifications of the immune response impacting the clinical outcome. Identifying early changes in the immune system was critical to directing the therapeutic choice and improving the clinical outcome.

Fenfluramine treatment for Dravet syndrome: Long term real-world analysis demonstrates safety and reduced health care burden.

Objective: Fenfluramine (FFA), stiripentol (STP), and cannabidiol (CBD) are approved add-on therapies for seizures in Dravet syndrome (DS). We report on the long-term safety and health care resource utilization (HCRU) of patients with DS treated with FFA under an expanded access program (EAP).

Methods: A cohort of 124 patients received FFA for a median of 2.

Insights on Wet and Dry Workflows for Human Gut Metaproteomics.

The human gut microbiota (GM) is a community of microorganisms that resides in the gastrointestinal (GI) tract. Recognized as a critical element of human health, the functions of the GM extend beyond GI well-being to influence overall systemic health and susceptibility to disease. Among the other omic sciences, metaproteomics highlights additional facets that make it a highly valuable discipline in the study of GM.

Deciphering the Role of Crown-ether Receptor Orientation in C-H Oxidation Catalyzed by Supramolecular Nonheme Fe(O) Complexes.

The outstanding efficiency and selectivity of enzymatic reactions, such as C-H oxidation by nonheme iron oxygenases, stems from a precise control of substrate positioning inside the active site. The resulting proximity between a specific moiety (a certain C-H bond) and the reactant (a Fe(O) active species) translates into higher rates and selectivity, that can be in part replicated also with artificial supramolecular catalysts. However, structural modification of the position and orientation of the binding site both in enzymes and in artificial catalysts often leads to significant variations in reactivity that can be difficult to rationalize due to the system's complexity.

The role of the analysis of sialotransferrin isoforms in the management of hereditary fructose intolerance: a systematic review.

Background: Untreated patients affected by hereditary fructose intolerance (HFI) present an abnormal transferrin (Tf) glycosylation pattern suggestive of N-hypoglycosylation. Analysis of defects in N-glycosylation is possible by analysis of serum sialotransferrin (sialoTf) pattern. The sialoTf profile is a valuable tool to facilitate the diagnosis of HFI.

Prevalence and outcomes of arthritis in pediatric IBD: A multicenter study from the Italian Society of Pediatric Gastroenterology Hepatology and Nutrition.

Background And Aims: The aim of the present study was to assess prevalence and disease outcomes of arthritis in a nationwide cohort of pediatric patients with inflammatory bowel disease (IBD).

Methods: We collected data of pediatric IBD patients experiencing arthritis from the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition IBD registry. We gathered baseline and one-year follow-up data on concomitant IBD and arthritis diagnosis.

I-mIBG therapy in relapsed/refractory neuroblastoma: A weapon from the future past.

Neuroblastoma (NB) is the most common extracranial solid tumor in children, with variable outcomes ranging from spontaneous remission to high-risk cases often leading to relapse or refractory disease. Approximately 50 % of patients with NB have high-risk features, often experiencing relapse or refractory disease despite intensive treatments and the prognosis remains poor, with long-term event-free survival (EFS) rates below 10 %,Radioactive iodine-labeled meta-iodobenzylguanidine (¹³¹I-mIBG) therapy, leveraging NB cells' radiosensitivity and expression of the norepinephrine transporter (NET), has shown promise in treating relapsed or refractory NB. Since 1985, ¹³¹I-mIBG has been studied to determine the maximum tolerated dose and side effects, with recent trials exploring its use in front-line treatment.