10 results match your criteria: "Department of Clinical Neurosciences University of Cambridge Cambridge UK.[Affiliation]"

Article Synopsis
  • - The study investigated cerebral small-vessel disease (cSVD), a genetic cause of stroke, by analyzing a cohort of suspected familial cases using whole-genome sequencing to identify known and novel genetic variants associated with the disease.
  • - Among 257 suspected cSVD cases, 8.9% had variants in known cSVD genes, and 23.6% of those without known causes carried potentially harmful variants; however, none were statistically linked to the disease.
  • - The research suggests that rare variants in noncoding and matrisomal genes may contribute to cSVD, impacting tissue development and brain endothelial cell function, but more research is needed to verify these findings.
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Cell culture-derived extracellular vesicles: Considerations for reporting cell culturing parameters.

J Extracell Biol

October 2023

Laboratory of Experimental Clinical Chemistry, Department of Clinical Chemistry, Amsterdam University Medical Centers Location AMC, University of Amsterdam Amsterdam The Netherlands.

Cell culture-conditioned medium (CCM) is a valuable source of extracellular vesicles (EVs) for basic scientific, therapeutic and diagnostic applications. Cell culturing parameters affect the biochemical composition, release and possibly the function of CCM-derived EVs (CCM-EV). The CCM-EV task force of the Rigor and Standardization Subcommittee of the International Society for Extracellular Vesicles aims to identify relevant cell culturing parameters, describe their effects based on current knowledge, recommend reporting parameters and identify outstanding questions.

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Introduction: The distribution of voxel- and connection-based white matter hyperintensity (WMH) patterns in early-onset Alzheimer's disease (EOAD) and late-onset Alzheimer's disease (LOAD), as well as factors associated with these patterns, remain unclear.

Method: We analyzed the WMH distribution patterns in EOAD and LOAD at the voxel and connection levels, each compared with their age-matched cognitively unimpaired participants. Linear regression assessed the independent effects of amyloid and vascular risk factors on WMH distribution patterns in both groups.

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Introduction: We aimed to expand the range of the frontotemporal dementia (FTD) phenotypes assessed by the Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains (CDR plus NACC FTLD).

Methods: Neuropsychiatric and motor domains were added to the standard CDR plus NACC FTLD generating a new CDR plus NACC FTLD-NM scale. This was assessed in 522 mutation carriers and 310 mutation-negative controls from the Genetic Frontotemporal dementia Initiative (GENFI).

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Article Synopsis
  • This systematic review investigates the hearing and speech outcomes for patients with profound congenital deafness due to Waardenburg syndrome who receive cochlear implants.* -
  • A total of 16 studies involving 179 patients and over 194 implants were included, revealing generally positive hearing outcomes despite modest methodological quality and some reported complications.* -
  • Cochlear implantation is considered an effective auditory rehabilitation option for these patients, though more high-quality, large-scale studies are needed to further confirm these findings.*
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Introduction: Although many cognitive measures have been developed to assess cognitive decline due to Alzheimer's disease (AD), there is little consensus on optimal measures, leading to varied assessments across research cohorts and clinical trials making it difficult to pool cognitive measures across studies.

Methods: We used a two-stage approach to harmonize cognitive data across cohorts and derive a cross-cohort score of cognitive impairment due to AD. First, we pool and harmonize cognitive data from international cohorts of varying size and ethnic diversity.

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Background: In the fibrin-forming process, thrombin cleaves fibrinogen to fibrin, which form fibrils and then fibers, producing a gel-like clot. Thrombin also activates coagulation factor XIII (FXIII), which crosslinks fibrin γ-chains and α-chains, stabilizing the clot. Many proteins bind to fibrin, including FXIII, an established regulation of clot structure, and platelet glycoprotein VI (GPVI), whose contribution to clot function is largely unknown.

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While neurology remains the best-represented specialty, it was Hematology and Rheumatology cases that were more often reported by non-specialists. The overall distribution by country has also changed, reflecting recent outbreaks of infectious agents.

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Molecular imaging has become a powerful technique in preclinical and clinical research aiming towards the diagnosis of many diseases. In this work, we address the synthetic challenges in achieving lab-scale, batch-to-batch reproducible copper-64- and gallium-68-radiolabelled metal nanoparticles (MNPs) for cellular imaging purposes. Composite NPs incorporating magnetic iron oxide cores with luminescent quantum dots were simultaneously encapsulated within a thin silica shell, yielding water-dispersible, biocompatible and luminescent NPs.

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The validation of tau radioligands could improve the diagnosis of frontotemporal lobar degeneration and the assessment of disease-modifying therapies. Here, we demonstrate that binding of the tau radioligand [F]AV-1451 was significantly abnormal in both magnitude and distribution in a patient with familial frontotemporal dementia due to a MAPT 10 + 16C>T gene mutation, recapitulating the pattern of neuropathology seen in her father. Given the genetic diagnosis and the non-Alzheimer's pathology, these findings suggest that [F]AV-1451 might be a useful biomarker in primary tauopathies.

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