Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration.

Cholesterol 24-hydroxylase (CYP46A1) is an exclusively neuronal cytochrome P450 enzyme responsible for converting cholesterol into 24S-hydroxycholesterol, which serves as the primary pathway for eliminating cholesterol in the brain. We and others have shown that increased activity of CYP46A1 leads to reduced levels of cholesterol and has a positive effect on cognition. Therefore, we hypothesized that CYP46A1 could be a potential therapeutic target in Niemann-Pick type C (NPC) disease, a rare and fatal neurodegenerative disorder, characterized by cholesterol accumulation in endolysosomal compartments.

Understanding and optimising support resources to facilitate CALD student and supervisor allied health fieldwork experiences.

Background: Although fieldwork supervisors and culturally and linguistically diverse (CALD) students can experience challenges during allied health placements, there is little holistic understanding of how they view and use support resources to address these challenges. This study sought to identify, codify, and map the perceived value attached to support resources used or sought by CALD students and fieldwork supervisors and to ascertain areas where they could be optimised and better presented to users.

Methods: We conducted a thematic analysis to examine interview and open-ended survey responses from CALD students (n = 18) and fieldwork supervisors (n = 161) respectively.

An Exploratory Study on Participation Following Brachial Plexus Injury.

Consequences of brachial plexus injuries (BPI) would likely impact participation, but outcomes are not well understood. This exploratory study aimed to report the participation in productive, leisure and social roles for individuals following BPI. Fourteen male participants were diagnosed with a traumatic, BPI.

Effective long-term management of brachial plexus injury following surgery: What is needed from hand therapists' perspectives.

Introduction: Traumatic, brachial plexus injuries (BPI) result represent a significant cost to the individual and society. Recovery involves multiple surgeries, takes years, and often results in permanent physical dysfunction. While the last couple of decades have seen advancements in surgical management, the BPI rehabilitation literature has not kept pace with these developments.

Influence of 35% hydrogen peroxide gel renewal on color change during in-office dental photobleaching with violet LED: A split-mouth randomized controlled clinical trial.

Background: To clinically evaluate the effect of 35% hydrogen peroxide gel renewal in association with violet LED (405-410nm) through a split-mouth randomized controlled clinical trial.

Methods: The treatment consisted in 3 bleaching sessions of 15 min each, with an interval of 7 days between them, using 35% hydrogen peroxide combined to violet LED irradiation. Selected patients had two experimental segments for the split-mouth design: No change of the bleaching gel during each session (NBGR) and 3 changes of the bleaching gel every 5 min for each session (BGR).

Influence of Human Milk on Very Preterms' Gut Microbiota and Alkaline Phosphatase Activity.

The FEEDMI Study (NCT03663556) evaluated the influence of infant feeding (mother's own milk (MOM), donor human milk (DHM) and formula) on the fecal microbiota composition and alkaline phosphatase (ALP) activity in extremely and very preterm infants (≤32 gestational weeks). In this observational study, preterm infants were recruited within the first 24 h after birth. Meconium and fecal samples were collected at four time points (between the 2nd and the 26th postnatal days.

Use of Therapeutic Hypothermia in Sudden Unexpected Postnatal Collapse: A Retrospective Study.

Introduction: Sudden and unexpected postnatal collapse is a rare event with potentially dramatic consequences. Intervention approaches are limited, but hypothermia has been considered after postnatal collapse. The aim of this study was to analyse sudden and unexpected postnatal collapse cases that underwent therapeutic hypothermia in the five Portuguese hypothermia centres.

Extremely preterm neonates have more in meconium than very preterm neonates - the microbial colonization hypothesis.

Growing evidence suggests that maternal microbiota can influence the neonates' gut colonization. However, the mechanisms of vertical bacterial transmission remain poorly defined. We believed that the first colonizers of the newborn come from the mother's gut and vagina during pregnancy and that this is independent of the mode of delivery.

The lived experience following free functioning muscle transfer for management of pan-brachial plexus injury: reflections from a long-term follow-up study.

Background: Traumatic, pan-brachial plexus injuries result in major functional disability. Surgical advancements, such as free-functioning muscle transfers, are restoring physical capacity that was not achieved 3-4 decades ago. Despite reconstructive procedures, brachial plexus injury patients report chronic pain, changes in work circumstances, concerns about their appearance, increased reliance on others, and difficulty completing daily activities.

FEEDMI: A Study Protocol to Determine the Influence of Infant-Feeding on Very-Preterm-Infant's Gut Microbiota.

Background: Preterm infants are especially vulnerable to gut microbiota disruption and dysbiosis since their early gut microbiota is less abundant and diverse. Several factors may influence infants' gut microbiota, such as the mother's diet, mode of delivery, antibiotic exposure, and type of feeding.

Objectives: This study aims to examine the factors associated with very-preterm neonate's intestinal microbiota, namely: (1) type of infant-feeding (breast milk, donor human milk with or without bovine protein-based fortifier, and preterm formula); (2) maternal diet; and (3) mode of delivery.

Improving the theoretical description of charge transport in organic crystals.

Charge hopping based on Marcus theory is often used to predict charge carrier mobilities in organic crystals, although it is known to systematically underestimate the values. Here we show that this deficiency may lie on a fundamental aspect of quantum statistical averages, rather than on the approximation itself. Under adequate Boltzmann weighing procedure used to evaluate electron and hole transfer integrals, a kinetic Monte Carlo model is employed to describe mobilities in an azacene derivative.

Relationship between antioxidant in- take, nutritional factors and biochemical indicators in healthy volunteers.

Oxidative stress is an important risk factor for the development of cardiovascular ciseases (CVD) due to the serious damage caused by reactive oxygen species to biomolecules, thus, adequate intake of vitamins with antioxidant properties could prevent or delay the onset of these diseases. The aim of this study was to determine the relationship between antioxidant intake, nutritional factors and biochemical markers in a group of healthy individuals in Caracas, Venezuela. The study included 29 participants between 18-40 years of age who underwent three 24-hour dietary recalls, anthropometric measurements [weight, height, waist circumference (WC), waist-hip ratio (WHR) and % body fat (% BF)] according to the International Biology Program (IBP) methodology.

Peutz-Jeghers syndrome: early clinical expression of a new STK11 gene variant.

Genetic heterogeneity has been recognised in Peutz-Jeghers syndrome (PJS) (over 230 STK11 gene mutations reported). We report a rare PJS phenotype with early extensive gastrointestinal (GI) presentation and a new genetic variant. The case presented as haematochezia and mucocutaneous pigmentation (the patient was 3 years of age).

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.

[This corrects the article on p. 102 in vol. 6, PMID: 25852744.

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.

Background: Mitochondrial diseases due to deficiencies in the mitochondrial oxidative phosphorylation system (OXPHOS) can be associated with nuclear genes involved in mitochondrial translation, causing heterogeneous early onset and often fatal phenotypes.

Case Report: The authors describe the clinical features and diagnostic workup of an infant who presented with an early onset severe encephalopathy, spastic-dystonic tetraparesis, failure to thrive, seizures and persistent lactic acidemia. Brain imaging revealed thinning of the corpus callosum and diffuse alteration of white matter signal.

Menstruation disorders in adolescents with eating disorders-target body mass index percentiles for their resolution.

Objective: To analyse the progression of body mass index in eating disorders and to determine the percentile for establishment and resolution of the disease.

Methods: A retrospective descriptive cross-sectional study. Review of clinical files of adolescents with eating disorders.