Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosis.

Huntington's disease (HD) is an autosomal dominant neurodegenerative disease with the age at which characteristic symptoms manifest strongly influenced by inherited HTT CAG length. Somatic CAG expansion occurs throughout life and understanding the impact of somatic expansion on neurodegeneration is key to developing therapeutic targets. In 57 HD gene expanded (HDGE) individuals, ~23 years before their predicted clinical motor diagnosis, no significant decline in clinical, cognitive or neuropsychiatric function was observed over 4.

Comparison of failure rates between full-barium and striped barium distal shunt catheters: a matched case-control study.

Purpose: We hypothesize that distal shunt catheters fully impregnated with barium are more prone to failure compared to distal catheters with only a barium stripe. We sought to evaluate this distinction using a matched case-control study.

Methods: Patient records over an 8-year period were queried for distal shunt revisions for fracture or disconnection (cases).

Investigating the effect of ceramic fiber on the mechanical properties of glassphalt.

Glassphalt suffers from performance defects, especially against moisture damage and fatigue cracking. In this research, the performance of glassphalt modified with CF has been evaluated against moisture damage, fatigue cracking and rutting. Based on this, Modified Lottman, Wilhelmy Plate (WP), Indirect Tensile Stiffness Modulus (ITSM), Indirect Tensile Fatigue (ITF), and Repeated Load Axial (RLA) tests have been performed on glassphalt modified with CF.

Body composition changes and clinical outcomes in pediatric cystic fibrosis during 24 months of lumacaftor ivacaftor therapy based on real-world data.

Clinical trials demonstrate the short-term efficacy of dual CFTR modulators, but long-term real-world data is limited. We aimed to investigate the effects of 24-month lumacaftor/ivacaftor (LUM/IVA) therapy in pediatric CF patients (pwCF). This observational study included pwCF homozygous for F508del mutation treated between 2021 and 2023.

Outcome prediction for late-onset sepsis after premature birth.

Background: Our aim was to develop a quantitative model for immediately estimating the risk of death and/or brain injury in late-onset sepsis (LOS) in preterm infants, based on objective and measurable data available at the time sepsis is first suspected (i.e., time of blood culture collection).

Dual RNA sequencing of a co-culture model of Pseudomonas aeruginosa and human 2D upper airway organoids.

Pseudomonas aeruginosa is a Gram-negative bacterium that is notorious for airway infections in cystic fibrosis (CF) subjects. Bacterial quorum sensing (QS) coordinates virulence factor expression and biofilm formation at population level. Better understanding of QS in the bacterium-host interaction is required.

Enhancing biosensing of trace tau protein in clinical samples via emergence macroscopic directed aggregation.

Alzheimer's disease (AD) is an irreversible neurodegenerative disorder that poses a significant risk to human health and well-being. The high cost and invasiveness of neuroimaging and cerebrospinal fluid (CSF) analysis underscores the necessity for accessible early screening via blood samples. In this study, we developed an ultrasound-based strategy for emergent macroscopic that enhances the acoustic response enrichment of specific proteins by introducing functionalized microspheres.

Racial disparities in lung transplantation for cystic fibrosis in the era of highly effective modulator therapy.

Background: Highly effective modulator therapies (HEMT) including ivacaftor (IVA) and elexacaftor/tezacaftor/ivacaftor (ETI) have transformed treatment for people with cystic fibrosis (pwCF). However, non-HEMT-responsive mutations are more common in pwCF of non-White race/ethnicity; introduction of HEMT might have exacerbated racial/ethnic disparities in CF care.

Methods: Using the Scientific Registry of Transplant Recipients, we identified all lung transplant candidates and recipients 05/2005-12/2022 and categorized them by diagnosis (CF/non-CF), race/ethnicity (non-Hispanic White/Black/Hispanic) and era [Pre-HEMT (2005-1/30/2012), IVA (1/31/2012-10/30/2019), ETI (10/31/2019-12/31/2022)].

Fructose-Driven glycolysis supports synaptic function in subterranean rodent - Gansu Zokor (Eospalax cansus).

Several studies indicate that fructose can be used as an energy source for subterranean rodents. However, how subterranean rodents utilize fructose metabolism with no apparent physiological drawbacks remains poorly understood. In the present study, we measured field excitatory postsynaptic potentials (fEPSPs) in hippocampal slices from Gansu zokor and SD rats hippocampi before and 60 min after replacement of 10 mM glucose in the artificial cerebrospinal fluid (ACSF) with 10 mM fructose (gassed with 95 % O and 5 % CO).

The interaction between orexin, sleep deprivation and Alzheimer's disease: Unveiling an Emerging Connection.

Alzheimer's disease (AD) is a devastating neurodegenerative disorder characterized by progressive cognitive decline and memory loss. Sleep-wake disorders are an extremely predominant and often disabling aspect of AD. Ox is vital in maintaining the sleep-wake cycle and promoting wakefulness.

Titanium clips and ligamentum flavum-epidural fat patch graft for midline lumbar durotomy closure in pediatric neurosurgery.

Objective: CSF leaks are a significant source of patient morbidity following intradural spine surgeries. Watertight dural closure is crucial during these procedures to minimize the risk of a CSF leak. This study reports postoperative outcomes and changes in patient management after switching to penetrating titanium clips for dural closure in a large cohort of pediatric patients receiving a tethered cord release (TCR) or a selective dorsal rhizotomy (SDR).

The utility of routine intraoperative CSF during ventricular shunt insertion: a 10-year retrospective cohort study.

Objective: Ventricular shunt insertion is a common procedure in pediatric neurosurgical practice. In many areas of medicine there is a push toward rationalization of healthcare resources and a reduction in low-value tests or procedures. The intraoperative sampling of CSF at the time of shunt insertion is one traditional aspect of care that has not been rigorously evaluated.

Exploring potential drug targets for SLE through Mendelian randomization and network pharmacology.

Background: Systemic lupus erythematosus (SLE) is a complex and incurable autoimmune disease, so several drug remission for SLE symptoms have been developed and used at present. However, treatment varies by patient and disease activity, and existing medications for SLE were far from satisfactory. Novel drug targets to be found for SLE therapy are still needed.

Low-Impedance Hybrid Carbon Structures on SiO: A Sequential Gas-Phase Coating Approach.

Carbon coating on SiO surface is crucial for enhancing initial Coulombic efficiency (ICE) and cycling performance in batteries, while also buffering volume expansion. Despite its market prevalence, the effects of the carbon layer's quality and structure on the electrochemical properties of SiO remain underexplored. This study compares carbon layers produced via gas-phase and solid-phase coating methods, introducing an innovative technique that sequentially uses two gases to develop a low-impedance hybrid carbon structure.

Double trouble: The intersection of neurobrucellosis and systemic lupus erythematosus in a 24-year-old female.

Background: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease affecting multiple organs, while brucellosis is a zoonotic infection prevalent in endemic areas. Neurobrucellosis, a severe complication of brucellosis, can mimic or coexist with autoimmune conditions like SLE, complicating diagnosis and treatment. This case report highlights the diagnostic challenges and management strategies for such overlapping diseases.

Left Main Coronary Artery Ostial Stenosis Caused by Syphilitic Aortitis Presenting With Syncope.

A 51-year-old man with a history of antibiotic therapy for syphilis 1 month ago presented with syncope. Computed tomography revealed circumferential aortic wall thickening complicating severe stenosis of left main coronary ostium. Abnormalities in serologic and cerebrospinal fluid tests led to the diagnosis of syphilitic aortitis and neurosyphilis.

Clinical decision points for two plasma p-tau217 laboratory developed tests in neuropathology confirmed samples.

Introduction: We evaluated the diagnostic performance of two commercial plasma p-tau217 immunoassays compared to cerebrospinal fluid (CSF) testing and neuropathology.

Methods: One hundred and seventy plasma samples from the University of British Columbia Hospital Clinic for Alzheimer's (AD) and Related Disorders were analyzed for p-tau217 using Fujirebio and ALZpath assays. Decision points were determined using CSF testing and autopsy findings as the standard.

Toward alpha-synuclein seed amplification assay in clinical practice.

Introduction: Seed amplification assays (SAAs) demonstrate remarkable diagnostic performance in alpha-synucleinopathies. However, existing protocols lack accessibility in routine laboratories, mainly due to the requirement for in-house production of recombinant alpha-synuclein (aSyn). This study proposes a cerebrospinal fluid (CSF) aSyn-SAA protocol using solely commercial reagents to facilitate its clinical implementation.

Plasma biomarkers of amyloid, tau, astrogliosis, and axonal injury in a mixed memory clinic cohort.

Introduction: Studies have shown that blood biomarkers can differentiate dementia disorders. However, the diagnosis of dementia still relies primarily on cerebrospinal fluid and imaging modalities. The new disease-modifying treatments call for more widely applicable biomarkers.

sTREM2 in discordant CSF Aβ and p-tau181.

Introduction: Little is known about the factors underpinning discordant cerebrospinal fluid (CSF) amyloid beta (Aβ) versus p-tau181/Aβ or CSF Aβ versus Aβ positron emission tomography (PET).

Methods: We stratified 570 non-demented Alzheimer's Disease Neuroimaging Initiative (ADNI) participants by Aβ PET and further by CSF Aβ or p-tau181/Aβ. We used analysis of covariance testing adjusting for covariates, followed by Tukey post hoc pairwise comparisons, to compare CSF soluble triggering receptor expressed on myeloid cells-2 (sTREM2) across four participant groups: CSF+ with CSF- , CSF- with CSF+ , and concordant CSF/CSF.

Blood phosphorylated Tau181 reliably differentiates amyloid-positive from amyloid-negative subjects in the Alzheimer's disease continuum: A systematic review and meta-analysis.

Introduction: Blood-based biomarkers seem promising for the diagnosis of Alzheimer's disease (AD).

Methods: We performed a systematic review and meta-analysis on the potential of blood phosphorylated Tau181 (p-tau181) to differentiate amyloid-positive (A+) and amyloid-negative (A-) subjects. Two meta-analyses were conducted, showing the mean p-tau values in blood and cerebrospinal fluid (CSF) in the A+ and A- group, and the second comparing the mean p-tau concentrations in blood and CSF among A+ versus A- participants, by laboratory assessment method.

Enhanced pathogen identification among patients with clinically suspected meningitis.

Background: Delayed or incorrect treatment of meningitis may result in adverse patient outcomes. However, laboratory testing in resource-limited settings is often limited to conventional diagnostic methods. We explored the utility of syndromic molecular assays for diagnosis.

Comparison of Influence of Office and 24-h Central Aortic Blood Pressure on Target Organ Damage in Hypertension.

The aim of this study was to explore whether 24-h ambulatory central (aortic) blood pressure (BP) has an advantage over office central aortic BP in screening for hypertension-mediated target organ damage (HMOD). A total of 714 inpatients with primary hypertension and the presence of several cardiovascular risk factors or complications involving clinical HMOD were enrolled. Twenty-four hour central aortic BP was measured by means of a noninvasive automated oscillometric device (Mobil-O-Graph).

Functional Imaging Methods for Investigating 3D Choroid Plexus Organoids.

The choroid plexus (ChP) is a vital brain structure that produces cerebrospinal fluid (CSF) and forms a selective barrier between the blood and CSF, essential for brain homeostasis. Composed of secretory epithelial cells, connective stroma, and a fenestrated vascular network, the ChP supports nutrient transport, immune surveillance, and the clearance of toxic by-products. Despite its significance in maintaining cerebral function, the mechanisms underlying its development and maturation remain poorly understood.

Aβ42 biomarker linked to insula, striatum, thalamus and claustrum in dementia with Lewy bodies.

The differential mechanisms between proteinopathies and neurodegeneration in Alzheimer's disease (AD) and dementia with Lewy bodies (DLB) remain unclear. To address this issue, we conducted a voxel-based morphometry and cerebrospinal fluid biomarker (α-synuclein, Aβ42, t-Tau and p-Tau) level correlation study in patients with DLB, AD and mixed cases (AD + DLB). Cerebrospinal fluid samples obtained by lumbar puncture and whole-brain T1-weighted images were collected in the AlphaLewyMA cohort.