Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.

Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.

Ecological Validity of Self-Perceived Voice Quality and Acoustic Measures During Voice Assessments: An Observational Study on Faculty Teachers.

Purpose: This study investigated the ecological validity of conventional voice assessments by comparing the self-perceived voice quality and acoustic characteristics of voice production during these assessments to those in a simulated environment with varying distracting conditions and noise levels.

Method: Forty-two university professors (26 women) participated in the study, where they were asked to produce loud connected speech by reading a 100-word text under four different conditions: a conventional assessment and three virtual classroom simulations created with 360° videos, each with different noise levels, played through a virtual reality headset and headphones. The first video depicted students paying attention in class (40 dB classroom noise); the second showed some students talking, generating moderate conversational noise (60 dB); and the third depicted students talking loudly and not paying attention (70 dB).

EEG-based responses of patients with disorders of consciousness and healthy controls to familiar and non-familiar emotional videos.

Objective: To investigate the differences in the brain responses of healthy controls (HC) and patients with disorders of consciousness (DOC) to familiar and non-familiar audiovisual stimuli and their consistency with the clinical progress.

Methods: EEG responses of 19 HC and 19 patients with DOC were recorded while watching emotionally-valenced familiar and non-familiar videos. Differential entropy of the EEG recordings was used to train machine learning models aimed to distinguish brain responses to stimuli type.

Care bundle for preventing intraventricular hemorrhage in premature infants: a best practice implementation project.

Introduction: Intraventricular hemorrhages remain a major problem in neonatology, because their complications affect neonatal morbidity, mortality, and long-term neurodevelopmental outcomes.

Aim: The aim of this project was to prevent intraventricular hemorrhage in premature infants during their first days of life in a neonatal intensive care unit (NICU).

Methods: This pre- and post-implementation clinical audit project used the JBI Evidence Implementation Framework and was conducted in a tertiary-level Spanish NICU with a consecutive sample.

Searching molecular biomarkers correlating with BSID-III at 24 months in infants with neonatal hypoxic-ischemic encephalopathy.

An early prediction of outcomes of neonatal hypoxic-ischemic encephalopathy (NE) is of key importance in reducing neonatal mortality and morbidity. The objectives were (i) to analyze the characteristics of miRNA expression and metabolic patterns of neonates with NE and (ii) to assess their predictive performance for neurodevelopmental outcomes. Plasma samples from moderate/severe NE patients (N = 92) of the HYPOTOP study were collected before, during, and after therapeutic hypothermia (TH) and compared to a control group (healthy term infants).