Novel genetic variant in hereditary spastic paraparesis.

A man in his 30s was referred to neurology with right-sided paraesthesia, tremors, chest pain and lower urinary tract and erectile dysfunction. He had a medical history of left acetabular dysplasia, and subjective memory impairment, the latter being in the context of depression and chronic pain with opioid use. There was no notable family history.

Systematic, comprehensive, evidence-based approach to identify neuroprotective interventions for motor neuron disease: using systematic reviews to inform expert consensus.

Objectives: Motor neuron disease (MND) is an incurable progressive neurodegenerative disease with limited treatment options. There is a pressing need for innovation in identifying therapies to take to clinical trial. Here, we detail a systematic and structured evidence-based approach to inform consensus decision making to select the first two drugs for evaluation in Motor Neuron Disease-Systematic Multi-arm Adaptive Randomised Trial (MND-SMART: NCT04302870), an adaptive platform trial.

Association of baseline hematoma and edema volumes with one-year outcome and long-term survival after spontaneous intracerebral hemorrhage: A community-based inception cohort study.

Background: Hospital-based studies have reported variable associations between outcome after spontaneous intracerebral hemorrhage and peri-hematomal edema volume.

Aims: In a community-based study, we aimed to investigate the existence, strength, direction, and independence of associations between intracerebral hemorrhage and peri-hematomal edema volumes on diagnostic brain CT and one-year functional outcome and long-term survival.

Methods: We identified all adults, resident in Lothian, diagnosed with first-ever, symptomatic spontaneous intracerebral hemorrhage between June 2010 and May 2013 in a community-based, prospective inception cohort study.

Mitochondria-targeted antioxidant MitoQ ameliorates ischaemia-reperfusion injury in kidney transplantation models.

Background: Ischaemia-reperfusion (IR) injury makes a major contribution to graft damage during kidney transplantation. Oxidative damage to mitochondria is an early event in IR injury. Therefore, the uptake, safety, and efficacy of the mitochondria-targeted antioxidant MitoQ were investigated in models of transplant IR injury.

Enhanced axonal response of mitochondria to demyelination offers neuroprotection: implications for multiple sclerosis.

Axonal loss is the key pathological substrate of neurological disability in demyelinating disorders, including multiple sclerosis (MS). However, the consequences of demyelination on neuronal and axonal biology are poorly understood. The abundance of mitochondria in demyelinated axons in MS raises the possibility that increased mitochondrial content serves as a compensatory response to demyelination.

Factors predicting the mental health of adolescents attending a faith-based Australian school system: a multi-group structural equation analysis.

Adolescents attending Seventh-day Adventist schools (Adventist) in Australia tend to experience good health and exhibit better health behaviors than national norms, however few studies have investigated factors predicting their mental health. The aim of this study was to explore the complex network of factors that predict the mental health status (MHS) of adolescents attending Adventist schools in Australia. A survey instrument was used to collect data from 1527 secondary school students attending Adventist schools across Australia.

Involvement of the Cingulate Cortex in Anosognosia: A Multimodal Neuroimaging Study in Alzheimer's Disease Patients.

Background: Anosognosia is a frequent symptom of Alzheimer's disease (AD), but its neural substrates remain in question.

Objective: In this study, we combined neuroimaging with a neuropsychological evaluation to assess neural substrates of anosognosia.

Methods: We prospectively recruited 30 patients with probable early-stage AD and matched healthy controls.

The association between self-rated health and social environments, health behaviors and health outcomes: a structural equation analysis.

Background: The factors shaping the health of the current generation of adolescents are multi-dimensional and complex. The purpose of this study was to explore the determinants of self-rated health (SRH) of adolescents attending a faith-based school system in Australia.

Methods: A total of 788 students attending 21 Seventh-day Adventist schools in Australia responded to a health and lifestyle survey that assessed SRH as well as potential determinants of SRH including the health outcomes mental health, vitality, body mass index (BMI), select health behaviors, social factors and personal demographics.

C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca-permeable AMPA receptor-mediated excitotoxicity.

Mutations in C9ORF72 are the most common cause of familial amyotrophic lateral sclerosis (ALS). Here, through a combination of RNA-Seq and electrophysiological studies on induced pluripotent stem cell (iPSC)-derived motor neurons (MNs), we show that increased expression of GluA1 AMPA receptor (AMPAR) subunit occurs in MNs with C9ORF72 mutations that leads to increased Ca-permeable AMPAR expression and results in enhanced selective MN vulnerability to excitotoxicity. These deficits are not found in iPSC-derived cortical neurons and are abolished by CRISPR/Cas9-mediated correction of the C9ORF72 repeat expansion in MNs.

Religious Affiliation Influences on the Health Status and Behaviours of Students Attending Seventh-Day Adventist Schools in Australia.

Students attending Seventh-day Adventist (Adventist) schools in Australia have been shown to have better health status and behaviours compared to secular norms, yet these schools cater for a high percentage of non-Adventist students. The purpose of this study was to investigate the influence of religious affiliation (Adventist/non-Adventist) on the health status and behaviours of students attending Adventist secondary schools in Australia. The sample included 1734 students who responded to a health and lifestyle survey that captured demographic details, self-reported height and weight, self-reported health status, mental health and select health behaviours.

Randomized controlled trials in neurosurgery: an observational analysis of trial discontinuation and publication outcome.

OBJECTIVE This study aimed to determine the trial discontinuation and publication rate of randomized controlled trials (RCTs) in neurosurgery. METHODS Trials registered from 2000 to 2012 were identified on the website clinicaltrials.gov using a range of key words related to neurosurgery.

Delivery of bioactive molecules to mitochondria in vivo.

Mitochondrial dysfunction contributes to many human degenerative diseases but specific treatments are hampered by the difficulty of delivering bioactive molecules to mitochondria in vivo. To overcome this problem we developed a strategy to target bioactive molecules to mitochondria by attachment to the lipophilic triphenylphosphonium cation through an alkyl linker. These molecules rapidly permeate lipid bilayers and, because of the large mitochondrial membrane potential (negative inside), accumulate several hundredfold inside isolated mitochondria and within mitochondria in cultured cells.

Beta-ketoacyl-acyl carrier protein synthase III from pea (Pisum sativum L.): properties, inhibition by a novel thiolactomycin analogue and isolation of a cDNA clone encoding the enzyme.

A beta-ketoacyl-acyl carrier protein (ACP) synthase III (KAS III; short-chain condensing enzyme) has been partly purified from pea leaves. The enzyme, which had acetyl-CoA:ACP acyltransferase (ACAT) activity, was resolved from a second, specific, ACAT protein. The KAS III enzyme had a derived molecular mass of 42 kDa (from its cDNA sequence) and operated as a dimer.

Prevention of mitochondrial oxidative damage using targeted antioxidants.

Mitochondrial-targeted antioxidants that selectively block mitochondrial oxidative damage and prevent some types of cell death have been developed. These antioxidants are ubiquinone and tocopherol derivatives and are targeted to mitochondria by covalent attachment to a lipophilic triphenylphosphonium cation. Because of the large mitochondrial membrane potential, these cations accumulated within mitochondria inside cells, where the antioxidant moiety prevents lipid peroxidation and protects mitochondria from oxidative damage.

Structural analysis of the carbohydrate moiety of arabinogalactan-proteins from stigmas and styles of Nicotiana alata.

Arabinogalactan-proteins (AGPs) from the female reproductive tissues (stigmas and styles) of Nicotiana alata were isolated from the saturated ammonium sulfate supernatant of buffer-soluble extracts by precipitation with the beta-glucosyl Yariv reagent, followed by gel-filtration chromatography under dissociating conditions. The AGPs had characteristics typical of other AGPs: a high proportion of carbohydrate (95%) with a high ratio of Gal p to Ara f (2:1), and a low protein content (5%) with high levels of alanine, serine, and hydroxyproline. The AGPs consisted of a major species which was almost neutral, and a minor species which was more negatively charged.

Intravenous infusions of ifosfamide/mesna and perturbation of warfarin anticoagulant control.

We report three patients who had serious disturbance of anticoagulant control while receiving ifosfamide/mesna-containing cytotoxic chemotherapy in association with warfarin. In view of the likely biological potentiation of warfarin by ifosfamide/mesna, close monitoring of anticoagulant control should be performed during the co-administration of these drugs.