Publications by authors named "Sanfilippo P"

Background: Idiopathic intracranial hypertension (IIH) is increasingly prevalent, yet longitudinal outcome data are scarce. This study aimed to characterise demographic and longitudinal clinical changes in a cohort of patients with IIH.

Methods: Retrospective cohort analysis on adult patients diagnosed with IIH (Friedman criteria) enrolled in the neuro-ophthalmology database (NODE) across two tertiary centres.

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  • The study investigated the prevalence of two types of disability progression in patients with aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder (AQP4-IgG NMOSD): Progression Independent of Relapse Activity (PIRA) and Relapse-Associated Worsening (RAW).
  • It included 181 patients from the MSBase registry, mostly females with an average age of 38.1 years, monitored for an average of 4.5 years, where only 2.2% experienced PIRA and 7.2% experienced RAW.
  • The findings suggest PIRA is rare in AQP4-IgG NMOSD cases, but the study had limitations, such as using
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Background: The relationship between coronavirus disease 2019 (COVID-19) infection and multiple sclerosis (MS) relapse and disease progression remains unclear. Previous studies are limited by small sample sizes and most lack a propensity-matched control cohort.

Objective: To evaluate the effect of COVID-19 infection on MS disease course with a large propensity-matched cohort.

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Background: Neuromyelitis optica spectrum disorder (NMOSD) can be categorised into aquaporin-4 antibody (AQP4-IgG) NMOSD or seronegative NMOSD. While our knowledge of AQP4-IgG NMOSD has evolved significantly in the past decade, seronegative NMOSD remains less understood. This study aimed to evaluate the predictors of relapses and treatment responses in AQP4-IgG NMOSD and seronegative NMOSD.

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Background: Intravitreal ranibizumab for diabetic macular oedema (DMO) has been recently shown to modulate levels of aqueous cytokines. This study investigates the associations between changes in aqueous cytokine levels following intravitreal ranibizumab therapy and the corresponding anatomical and functional changes in the eye.

Methods: Twenty-five patients comprising 30 eyes diagnosed with DMO were prospectively recruited.

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  • - Cladribine (Mavenclad®) is an oral treatment for relapsing remitting multiple sclerosis (RRMS), but its effects on the immune system were previously unclear.
  • - A Phase IV study with 41 RRMS patients showed that cladribine significantly reduced the count of certain monocytes and altered levels of cytokines, notably increasing CCL2 at week 1 post-treatment.
  • - The study found that cladribine also affects the P2X7 receptor's activity, highlighting a new action mechanism that suggests further research into its potential use against other forms of MS and neurodegenerative diseases.
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To visualize the cellular and subcellular localization of neuromodulatory G-protein-coupled receptors in , we implement a molecular strategy recently used to add epitope tags to ionotropic receptors at their endogenous loci. Leveraging evolutionary conservation to identify sites more likely to permit insertion of a tag, we generated constitutive and conditional tagged alleles for , , , , , two isoforms of , and The conditional alleles allow for the restricted expression of tagged receptor in specific cell types, an option not available for any previous reagents to label these proteins. We show expression patterns for these receptors in female brains and that 5-HT1A and 5-HT2B localize to the mushroom bodies (MBs) and central complex, respectively, as predicted by their roles in sleep.

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Background: The COVID-19 pandemic raised concern amongst clinicians that disease-modifying therapies (DMT), particularly anti-CD20 monoclonal antibodies (mAb) and fingolimod, could worsen COVID-19 in people with multiple sclerosis (pwMS). This study aimed to examine DMT prescribing trends pre- and post-pandemic onset.

Methods: A multi-centre longitudinal study with 8,771 participants from MSBase was conducted.

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Glioblastoma is the most aggressive and lethal primary brain malignancy with limited treatment options and poor prognosis. Self-renewing glioblastoma cancer stem cells (GSCs) facilitate tumour progression, resistance to conventional treatment and tumour recurrence. GSCs are resistant to standard treatments.

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Background: A rebound in myopia progression following cessation of atropine eyedrops has been reported, yet there is limited data on the effects of stopping 0.01% atropine compared to placebo control. This study tested the hypothesis that there is minimal rebound myopia progression after cessation of 0.

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Background And Objectives: The impact of immunomodulatory therapies on the risk of cervical pre-cancer and invasive cancer development is important for the health and safety of women with multiple sclerosis (wwMS). We investigate the risk of cervical abnormalities in wwMS treated with disease-modifying therapies (DMTs).

Methods: This is a multicenter cohort study with data collected from 1998 to 2019 in Victoria, Australia.

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Neurons express various combinations of neurotransmitter receptor (NR) subunits and receive inputs from multiple neuron types expressing different neurotransmitters. Localizing NR subunits to specific synaptic inputs has been challenging. Here, we use epitope-tagged endogenous NR subunits, expansion light-sheet microscopy, and electron microscopy (EM) connectomics to molecularly characterize synapses in Drosophila.

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Unlabelled: To visualize the cellular and subcellular localization of neuromodulatory G-protein coupled receptors (GPCRs) in , we implement a molecular strategy recently used to add epitope tags to ionotropic receptors at their endogenous loci. Leveraging evolutionary conservation to identify sites more likely to permit insertion of a tag, we generated constitutive and conditional tagged alleles for 5-HT1A, 5-HT2A, 5-HT2B, Octβ1R, Octβ2R, two isoforms of OAMB, and mGluR. The conditional alleles allow for the restricted expression of tagged receptor in specific cell types, an option not available for any previous reagents to label these proteins.

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Introduction: Cognitive impairment is common in individuals presenting to alcohol and other drug (AOD) settings and the presence of biopsychosocial complexity and health inequities can complicate the experience of symptoms and access to treatment services. A challenge for neuropsychologists in these settings is to evaluate the likely individual contribution of these factors to cognition when providing an opinion regarding diagnoses such as acquired brain injury (ABI). This study therefore aimed to identify predictors of cognitive functioning in AOD clients attending for neuropsychological assessment.

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Article Synopsis
  • Neurons integrate various neurotransmitter signals and localizing specific receptor subunits to synaptic inputs is complicated.
  • Utilizing advanced microscopy and genetic techniques in Drosophila, the study reveals distinct molecular configurations of neurotransmitter receptors at specific synaptic sites of motion-sensitive neurons.
  • Findings suggest that the spatial distribution of these receptors and associated proteins influences how synapses are formed and which neuron types connect, essentially acting as a "map" for synaptic connectivity.
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Background: Optic nerve sheath fenestration (ONSF) longitudinal outcomes remain unclear and are vital in the assessment of vision failure in patients with raised intracranial pressure (ICP). Furthermore, limited observational data exists regarding its use in other causes of raised ICP.

Objective: To determine the efficacy and safety of ONSF for idiopathic intracranial hypertension (IIH), cerebral venous sinus thrombosis (CVST), and other indications.

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Objective: Differentiating status epilepticus (SE) from prolonged psychogenic nonepileptic seizures (pPNES) can be difficult clinically. We aimed to define the utility of peripheral cell counts, cell ratios, and lactate levels in distinguishing SE from pPNES.

Methods: Retrospective two-center study investigating the sensitivity and specificity of acute (≤12 h of event offset) peripheral cell counts, cell ratios (neutrophil-lymphocyte ratio, neutrophil-monocyte ratio, monocyte-lymphocyte ratio, platelet-lymphocyte ratio, systemic immune-inflammatory index [SII], systemic inflammatory response index [SIRI]), and lactate levels in differentiating SE from pPNES.

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  • - This study investigates the distribution of axial length (AL) among different age groups in Australia, highlighting its significance in choosing treatments for myopia, a condition characterized by elongated eyes.
  • - Researchers analyzed data from 5,938 Australians, finding that myopic individuals experience a more pronounced increase in AL during childhood and early adulthood compared to those without myopia.
  • - The findings suggest that early intervention is crucial, as myopia leads to greater changes in eye length during youth, and further research is needed to develop effective myopia management strategies.
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Glioblastomas are highly aggressive and deadly brain tumours, with a median survival time of 14-18 months post-diagnosis. Current treatment modalities are limited and only modestly increase survival time. Effective therapeutic alternatives are urgently needed.

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Purpose: To evaluate what clinical gains can be achieved over conventional treatment with ranibizumab alone for central retinal vein occlusion (CRVO) when causal pathology is additionally addressed successfully with a laser-induced chorio-retinal anastomosis (L-CRA).

Design: Two-year extension of prospective, randomized controlled clinical trial.

Methods: A total of 58 patients with macular edema secondary to CRVO were randomized 1:1 to receive either an L-CRA (n = 29) or sham procedure (n = 29) at baseline and then monthly intravitreal ranibizumab 0.

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To survive, animals must convert sensory information into appropriate behaviours. Vision is a common sense for locating ethologically relevant stimuli and guiding motor responses. How circuitry converts object location in retinal coordinates to movement direction in body coordinates remains largely unknown.

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Background: Prescription drug monitoring programs (PDMP) are electronic databases that track the prescribing and dispensing of high-risk medicines such as opioids. They have the ability to provide clinicians with alerts, which identify medication-related risks, and are used to help inform decisions to supply. This study aimed to determine to what extent patient, pharmacist, and medication related characteristics and PDMP alerts influence decisions to dispense opioids and take other action, using a randomised controlled factorial design.

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Background: To test the hypothesis that 0.01% atropine eyedrops are a safe and effective myopia-control approach in Australian children.

Methods: Children (6-16 years; 49% Europeans, 18% East Asian, 22% South Asian, and 12% other/mixed ancestry) with documented myopia progression were enrolled into this single-centre randomised, parallel, double-masked, placebo-controlled trial and randomised to receive 0.

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Purpose: To explore relationships between patterns of fetal anthropometric growth, as reflective of fetal wellbeing, and global retinal nerve fiber layer (RNFL) thickness measured in young adulthood.

Methods: Participants (n = 481) from within a Western Australian pregnancy cohort study underwent five serial ultrasound scans during gestation, with fetal biometry measured at each scan. Optic disc parameters were measured via spectral-domain optical coherence tomography imaging at a 20-year follow-up eye examination.

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