Upper airway obstructive events on noninvasive ventilation in NMD adolescents.

Home noninvasive ventilation (NIV) is expanding worldwide for pediatrics and is mainly indicated to treat nocturnal alveolar hypoventilation. Nasal mask is the most common interface used in children, but oronasal mask may be indicated in case of excessive mouth leaks or facial weakness. Obstructive events caused by the oronasal mask have been reported in a few studies on adult patients, but never in pediatrics.

Current and Emerging Issues in Adeno-Associated Virus Vector-Mediated Liver-Directed Gene Therapy.

Adeno-associated virus (AAV) vectors have demonstrated safety and efficacy for gene transfer to hepatocytes in preclinical models, in various clinical trials and from a clinical experience with a growing number of approved gene therapy products. Although the exact duration is unknown, the expression of therapeutic genes in hepatocytes remains stable for several years after a single administration of the vector at clinically relevant doses in adult patients with hemophilia and other inherited metabolic disorders. However, clinical applications, especially for diseases requiring high AAV vector doses by intravenous administrations, have raised several concerns.

Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era.

Background: Activated Phosphoinositide 3-Kinase (PI3K) δ Syndrome (APDS), an inborn error of immunity due to upregulation of the PI3K pathway, leads to recurrent infections and immune dysregulation (lymphoproliferation and autoimmunity).

Methods: Clinical and genetic data of 28 APDS patients from 25 unrelated families were collected from fifteen Italian centers.

Results: Patients were genetically confirmed with APDS-1 (n = 20) or APDS-2 (n = 8), with pathogenic mutations in the PIK3CD or PIK3R1 genes.

Assessing subaortic right ventricle function after atrial switch repair through myocardial work analysis.

Background: The Mustard and Senning operations for dextro-transposition of the great arteries (D-TGA) establish a biventricular physiology with a subaortic right ventricle (sRV). While prolonged QRS has been associated with worse prognosis in these patients, current echocardiographic tools fall short in adequately assessing the (mal)performance and function decline of the sRV during follow-up. The present study is the first to characterize Myocardial Work (MW) indices of the sRV in D-TGA patients after Mustard/Senning repair.

Behavioural, cognitive, and neurophysiological effects of a synbiotic supplementation enriched with pigmented corn extract or cornstarch in drug-naïve children with attention-deficit hyperactivity disorder: a randomised, double-blind, comparison-controlled clinical trial.

Background & Aims: Considerable interest has been recently given to the potential role of the gut-brain axis (GBA) -a two-way communication network between the gut microbiota and the central nervous system- in the pathogenesis of attention-deficit hyperactivity disorder (ADHD), suggesting the potential usefulness of probiotic and synbiotic supplementations. In light of the limited available evidence, synbiotic efficacy in ADHD children not taking medications should be clarified. This study aimed to investigate the efficacy of a synbiotic dietary supplementation on fatty acids levels as well as on microbiota composition, behaviour, cognition, and brain function in children with ADHD.

L-Arginine supplementation as mitochondrial therapy in diabetic cardiomyopathy.

In patients with type II diabetes, the development of diabetic cardiomyopathy (DC) is associated with a high risk of mortality. Left ventricular hypertrophy, diastolic dysfunction, and exercise intolerance are the first signs of DC. The underlying mechanisms are not fully elucidated, and there is an urgent need for specific biomarkers and molecular targets for early diagnosis and treatment.

Mental health during the 2022 Russo-Ukrainian War: A scoping review and unmet needs.

Introduction: The Russo-Ukrainian War (RUW) poses a significant mental health burden, warranting a scoping review of the evidence to shed light on the unmet needs.

Methods: MEDLINE/PubMed and EMBASE databases were inquired from inception until September 1st, 2023, to address the following a-priori-formulated questions: i) "Which psychiatric population has been assessed? How did the conflict affect the functioning of people with established mental health conditions (e.g.

Sex-specific differences in echocardiographic parameters of risk stratification in pulmonary arterial hypertension.

Background: In healthy subjects, sex-differences in right heart function have already been detected for various echocardiographic parameters.

Research Question: The objective of the study was to investigate sex-differences in echocardiographic ESC/ERS risk stratification parameters and their impact on survival estimation in patients with pulmonary arterial hypertension (PAH).

Study Design And Methods: In this retrospective, cross-sectional study with a mean follow-up time of 3.

Expansion of the Phenotype of You-Hoover-Fong Syndrome and Possible Increased Risk of Cancer.

You-Hoover-Fong syndrome (YHFS) is a rare autosomal recessive disorder characterized by global developmental delay, microcephaly, dysmorphic facial features, and a spectrum of neurodevelopmental abnormalities. YHFS is caused by pathogenic variants in TELO2, a gene involved in regulation of the cell cycle. To date, 29 individuals with YHFS have been reported and none of them has been reported to develop tumors.

Impact of FESS on symptomatology and quality of life of patients with CRSsNP.

Purpose: Chronic rhinosinusitis (CRS) has an impact on health related quality of life (HRQOL). The objective of this study was to examine generic and disease specific HRQOL and symptoms in CRS patients before and 6 months after sinus surgery.

Methods: This prospective, observational study consisted of 30 patients with chronic sinusitis.

Differences in microorganism profile in periprosthetic joint infections of the hip in patients affected by chronic kidney disease.

Background: Patients affected by chronic kidney disease (CKD) are at increased risk of periprosthetic joint infection (PJI) after total hip arthroplasty (THA). This patient population has a higher risk of recurrent infections and hospitalization. The aim of this study is to compare the profile of microorganisms in patients with CKD and PJI of the hip versus controls and to individuate potentially unusual and drug-resistant microorganisms among the causative bacteria.

Clinical trial eligibility in PSP: Population representativeness and potential criteria adjustment based on PSP-NET findings.

Background: Progressive Supranuclear Palsy (PSP) is a rare, heterogeneous neurodegenerative disease for which no treatment is currently available. In the context of clinical trials, the representativeness of the included patients is crucial for the generalizability of the results. Herein, we present results from a multicenter perspective study to identify the most restrictive criteria for patient selection and to assess the representativeness of eligible patients.

Long-Term Efficacy and Safety of Danicopan as Add-On Therapy to Ravulizumab or Eculizumab in PNH With Significant EVH.

Complement C5 inhibitor treatment with ravulizumab or eculizumab for paroxysmal nocturnal hemoglobinuria (PNH) improves outcomes and survival. Some patients remain anemic due to clinically significant extravascular hemolysis (cs-EVH: hemoglobin [Hgb] ≤9.5 g/dL and absolute reticulocyte count [ARC] ≥120×109/L).

The Clinical Relevance of Prior Metabolic and Bariatric Surgery in Alcohol-Related Liver Disease in a Nationwide Belgian Liver Transplant Population.

Background And Aims: Patients with a history of metabolic and bariatric surgery (MBS) are susceptible to developing alcohol use disorder. Outcome after transplantation for alcohol-related liver disease (ALD) has not been studied in-depth.

Methods: We included adult patients who underwent a liver transplantation (LT) in Belgium between 1 January 2013 and 31 December 2022 for ALD.

Tumor-derived G-CSF induces an immunosuppressive microenvironment in an osteosarcoma model, reducing response to CAR.GD2 T-cells.

Sarcomas are rare, mesenchymal tumors, representing about 10-15% of all childhood cancers. GD2 is a suitable target for chimeric antigen receptor (CAR) T-cell therapy due to its overexpression in several solid tumors. In this preclinical study, we investigated the potential use of iCasp9.

Efficacy and acceptability of pharmacological interventions for tardive dyskinesia in people with schizophrenia or mood disorders: a systematic review and network meta-analysis.

Tardive Dyskinesia (TD) can occur in people exposed to dopamine receptor antagonists (DRAs). Its clinical management remains challenging. We conducted a systematic review/random-effects network meta-analysis (NMA) searching PubMed/MEDLINE/PsycINFO/ClinicalTrials.

Phase angle is associated with nutritional risk in subacute stroke patients at the beginning of rehabilitation.

Objectives: Malnutrition in stroke is associated with poor clinical outcomes. Bioelectrical impedance analysis-derived phase angle (PhA) is widely used for assessing nutritional status as an index of muscle quality. This study aimed to evaluate the associations between whole body and limb PhAs and nutritional risk in stroke patients.

External Validation of the ISGPS Complexity Grading System for Minimally Invasive Pancreatoduodenectomy: Insights from the IGOMIPS registry.

Objective: To validate the ISGPS complexity grading system for minimally invasive pancreaticoduodenectomy (MIPD).

Background: Although concerns about patient safety persist, MIPD is gaining popularity. The ISGPS recently introduced a difficulty grading system to improve patient selection by aligning procedural complexity with surgeon and center expertise.

Could chronic opioid use be an additional risk of hepatic damage in patients with previous liver diseases, and what is the role of microbiome?

Among illicit drugs, addiction from opioids and synthetic opioids is soaring in an unparalleled manner with its unacceptable amount of deaths. Apart from these extreme consequences, the liver toxicity is another important aspect that should be highlighted. Accordingly, the chronic use of these substances, of which fentanyl is the most frequently consumed, represents an additional risk of liver damage in patients with underlying chronic liver disease.

A pulmonary hypertension targeted algorithm to improve referral to right heart catheterization: A machine learning approach.

Background: Pulmonary hypertension (PH) is a pathophysiological problem that may involve several clinical symptoms and be linked to various respiratory and cardiovascular illnesses. Its diagnosis is made invasively by Right Cardiac Catheterization (RHC), which is difficult to perform routinely. Aim of the current study was to develop a Machine Learning (ML) algorithm based on the analysis of anamnestic data to predict the presence of an invasively measured PH.

Role of Protein Tyrosine Phosphatases in Inflammatory Bowel Disease, Celiac Disease and Diabetes: Focus on the Intestinal Mucosa.

Protein tyrosine phosphatases (PTPs) are a family of enzymes essential for numerous cellular processes, such as cell growth, inflammation, differentiation, immune-mediated responses and oncogenic transformation. The aim of this review is to review the literature concerning the role of several PTPs-PTPN22, PTPN2, PTPN6, PTPN11, PTPσ, DUSP2, DUSP6 and PTPRK-at the level of the intestinal mucosa in inflammatory bowel disease (IBD), celiac disease (CeD) and type 1 diabetes (T1D) in both in vitro and in vivo models. The results revealed shared features, at the level of the intestinal mucosa, between these diseases characterized by alterations of different biological processes, such as proliferation, autoimmunity, cell death, autophagy and inflammation.

Graft inflow modulation in recipients with portal hypertension.

The extended application of living donor liver transplantation (LDLT) has revealed the problem of graft size mismatching, potentially leading to the "small-for-size syndrome" (SFSS). SFSS is a rare dysfunction that may affect a partial liver graft, characterized by coagulopathy, cholestasis, ascites, and encephalopathy. A key role in the physiopathology of SFSS is played by portal hypertension (PHT) to which a small allograft is submitted after reperfusion, resulting in sinusoidal congestion and hemorrhage.

Mechanical and semantic knowledge mediate the implicit understanding of the physical world.

Most recent accounts highlight the importance of two aspects of cognition in the implicit understanding of the physical world: semantic knowledge (the ability to recognize, categorize, and relate concepts) and mechanical knowledge (the capability to comprehend how things mechanically work). However, how the human brain may integrate these cognitive processes remains largely unexplored. Here, we use functional magnetic resonance imaging to investigate this integration employing a novel free-viewing task.