Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy.

Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with a broad clinical spectrum. Early diagnosis and initiation of treatment are crucial for improving outcomes, yet the disease often goes undiagnosed due to its rarity and phenotypic heterogeneity. This study aims to evaluate the feasibility and disease incidence of newborn screening (NBS) for ASMD in Italy.

European clinical practice guideline: managing and treating laryngopharyngeal reflux disease.

Objective: To propose a European consensus for managing and treating laryngopharyngeal reflux disease (LPRD) to guide primary care and specialist physicians.

Methods: Twenty-three European experts (otolaryngologists, gastroenterologists, surgeons) participated in a modified Delphi process to revise 38 statements about the definition, clinical management, and treatment of LPRD. Three voting rounds were conducted on a 5-point scale and a consensus was defined a priori as agreement by 80% of the experts.

The gender gap in academic anesthesiology and critical care medicine: a systematic review.

Purpose: Gender disparities in academia are a growing concern, impacting various disciplines, including health care. We aimed to investigate gender-based differences in academic performance, leadership roles, and academic distinction within anesthesiology and critical care medicine.

Source: We conducted electronic searches for relevant articles published in PubMed, CENTRAL, Scopus, Web of Science, Embase, Education Resources Information Center, PsychINFO, and ProQuest from database inception until 23 June 2024.

High-frequency percussive ventilation in acute respiratory failure.

Introduction: High-frequency percussive ventilation (HFPV) is a ventilation mode characterised by high-frequency breaths. This study investigated the impact of HFPV on gas exchange and clinical outcomes in acute respiratory failure (ARF) patients during spontaneous breathing, noninvasive ventilation (NIV) and invasive mechanical ventilation (iMV).

Methods: This systematic review included randomised and nonrandomised studies up to August 2023.

Beyond the Barriers of Ex Vivo Lung Perfusion Through an Emblematic Case: A New Way Forward to Expand the Donor Pool.

Lung transplantation is the most effective treatment for end-stage respiratory diseases, but its application is limited by the shortage of organs. Ex vivo lung perfusion (EVLP) has emerged as a promising technique to evaluate and recondition donor lungs previously deemed unsuitable for transplantation. However, limitations such as lung contusions, air leaks, and perfusate extravasation, especially in portable EVLP systems, hinder the procedure.

Core Outcomes of Self-Care Behaviours in Patients with Breast Cancer Treated with Oral Anticancer Agents: A Systematic Review.

Background/objectives: The use of oral anticancer agents (OAA) dates to the late 20th century in cancer treatment. It is crucial that patients implement self-care behaviours to keep their disease stable and manage their OAA treatment. The three dimensions of self-care according to Riegel et al.

Qualitative research on clinical risk perception in Pediatric Intensive Care Unit.

Background: the Pediatric Intensive Care field is characterized by the criticality of newborns and children who access it, as well as by a high complexity of care. This entails the need of an optimal integration between the various professional figures working in Pediatric Intensive Care Units (PICUs) and their ability to work in team.

Purpose: to describe how nurses perceive clinical risk and relate to it; to identify adverse events and related risk factors.

Early Prone Positioning As a Rescue Therapy for Moderate-to-severe Primary Graft Dysfunction After Bilateral Lung Transplant.

Objectives: Primary graft dysfunction (PGD) affects survival after lung transplant (LT). The current hypothesis was that prone positioning (PP), proposed as a rescue maneuver to treat refractory hypoxemia due to PGD, may improve LT outcomes, especially when applied early.

Design: Bilateral LT recipients developing moderate-to-severe PGD within 24 hours from intensive care unit admission were enrolled.

Long-term stability and efficacy of frozen fecal microbiota transplant (FMT) product at 24 months.

Background: Freezing donor fecal microbiota has improved fecal microbiota transplantation (FMT) for recurrent C. difficile infection (CDI), achieving short-term effectiveness similar to fresh-samples. Research shows frozen fecal matter remains effective for up to 12-months at -80 °C.

Treatment of Pediatric, Adolescent, and Young Adult Patients With Fusion-Positive Alveolar Rhabdomyosarcoma Infiltrating Regional Lymph Nodes in the European CWS-2002P and RMS 2005 Studies and the Soft Tissue Sarcoma Registry.

Background: Patients with alveolar rhabdomyosarcoma (ARMS) with regional lymph node involvement (N1) are defined as "very-high-risk rhabdomyosarcoma" in Europe. Different chemotherapy regimens were used in European study protocols.

Methods: Patients with FOXO1 fusion-positive N1 ARMS registered in the CWS-2002P study, the EpSSG RMS 2005 study, and SoTiSaR were retrospectively investigated.

Assessment of canonical diurnal variations in plasma glucose using quantile regression modelling and Chronomaps.

Objectives: Diurnal variation of plasma glucose levels may contribute to diagnostic uncertainty. The permissible time interval, (), was proposed as a time-dependent characteristic to specify the time within which glucose levels from two consecutive samples are not biased by the time of blood collection. A major obstacle is the lack of population-specific data that reflect the diurnal course of a measurand.

A Multi-Scale CNN for Transfer Learning in sEMG-Based Hand Gesture Recognition for Prosthetic Devices.

Advancements in neural network approaches have enhanced the effectiveness of surface Electromyography (sEMG)-based hand gesture recognition when measuring muscle activity. However, current deep learning architectures struggle to achieve good generalization and robustness, often demanding significant computational resources. The goal of this paper was to develop a robust model that can quickly adapt to new users using Transfer Learning.

Applied forces with high vs. low resuscitation table during neonatal ventilation: a randomized crossover manikin study.

Unlabelled: We compared applied forces on a newborn manikin face, cuff pressure, and air leak during positive pressure ventilation with a high vs. low resuscitation table. A randomized controlled crossover (AB/BA) trial of face mask ventilation where a neonatal manikin was placed on the resuscitation table adjusted to level operator's xiphoid (high table positioning) or operator's navel (low table positioning).

Effectiveness of sodium channel blockers in treating neonatal seizures due to arterial ischemic stroke.

Objective: Few studies have evaluated the efficacy of antiseizure medications (ASMs) according to the etiology of neonatal acute provoked seizures. We aimed to investigate the response to ASMs in term/near term neonates with acute arterial ischemic stroke (AIS), as well as the type of seizure at presentation and the monitoring approach.

Methods: We retrospectively evaluated neonates from 15 European level IV neonatal intensive care units who presented with seizures due to AIS and were monitored by continuous electroencephalography (cEEG) and/or amplitude-integrated EEG (aEEG) in whom actual recordings, timing, doses, and response to ASMs were available for review.

Lewy pathology formation in patient-derived GBA1 Parkinson's disease midbrain organoids.

Fibrillary aggregation of α-synuclein in Lewy body inclusions and nigrostriatal dopaminergic neuron degeneration define Parkinson's disease neuropathology. Mutations in GBA1, encoding glucocerebrosidase, are the most frequent genetic risk factor for Parkinson's disease. However, the lack of reliable experimental models able to reproduce key neuropathological signatures has hampered the clarification of the link between mutant glucocerebrosidase and Parkinson's disease pathology.

Implications of Implementing Children's Oncology Group Risk Stratification to Patients With Rhabdomyosarcoma Treated on European Paediatric Soft Tissue Sarcoma Study Group Clinical Trial.

Background: Prognostic factors are crucial in tailoring treatments for patients with rhabdomyosarcoma (RMS). The European paediatric Soft tissue sarcoma Study Group (EpSSG) and the Children's Oncology Group (COG) employ similar prognostic factors, but utilize them differently resulting in diverse stratification systems. This diversity may result in dissimilar treatment approaches for comparable patients and hinder the comparison of clinical trial results.

A systematic review of surgical and interventional radiology procedures for pediatric idiopathic intracranial hypertension.

Background: Idiopathic intracranial hypertension (IIH) is defined as elevated intracranial pressure and consequent symptoms (mainly headache and visual deterioration) occurring in the absence of secondary causes. Surgical and interventional radiology procedures should be considered for refractory IIH and mainly include cerebrospinal fluid (CSF) diversion techniques, optic nerve sheath fenestration (ONSF), and venous sinus stenting (VSS). Our study aims to review the current literature on the application of these techniques in clinical practice.

Do patients receiving extracorporeal membrane-oxygenation need antibiotic prophylaxis? A systematic review and meta-analysis on 7,996 patients.

Background: Patients undergoing Extracorporeal Membrane Oxygenation (ECMO) are particularly susceptible to infections: 42% experience sepsis and 26% develop a nosocomial infection (NI). Whether antibiotic prophylaxis is effective in reducing mortality and its effects on the rate of NIs is currently unclear.

Research Question: Can antibiotic prophylaxis decrease 30-day mortality for patients on ECMO? Can antibiotic prophylaxis prevent the occurrence of NIs in these patients?

Study Design And Methods: A systematic review and meta-analysis was conducted.