Publications by authors named "Perna L"

Background: In light of growing evidence highlighting interactions between cardiac and brain health, we investigated associations of biomarkers of neurodegenerative diseases with adverse outcomes (all-cause and cardiovascular mortality, major cardiovascular events, and stroke) in persons with chronic coronary syndrome (CCS).

Methods: We used data from a cohort of persons with CCS for whom major adverse events were recorded over a follow-up of 20 years. We measured biomarkers of neurodegenerative diseases in baseline blood samples, using the Single-Molecule Array Technology on a HD-1 Analyzer.

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Mitochondrial dysfunction is implicated in the pathogenesis of the neurological condition autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), yet precisely how the mitochondrial metabolism is affected is unknown. Thus, to better understand changes in the mitochondrial metabolism caused by loss of the sacsin protein (encoded by the SACS gene, which is mutated in ARSACS), we performed mass spectrometry-based tracer analysis, with both glucose- and glutamine-traced carbon. Comparing the metabolite profiles between wild-type and sacsin-knockout cell lines revealed increased reliance on aerobic glycolysis in sacsin-deficient cells, as evidenced by the increase in lactate and reduction of glucose.

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Background: Neurological injuries are among the most reported complications of elbow arthroscopy. Several cadaveric studies have assessed the relationship between nerves and arthroscopic portals. To our knowledge, no studies evaluated the anconeus nerve.

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Background: Polygenic risk scores (PRS) and subjective cognitive decline (SCD) are associated with the risk of developing dementia. It remains to examine whether they can improve the established cardiovascular risk factors aging and dementia (CAIDE) model and how their predictive abilities compare.

Methods: The CAIDE model was applied to a sub-sample of a large, population-based cohort study (n = 5,360; aged 50-75) and evaluated for the outcomes of all-cause dementia, Alzheimer's disease (AD) and vascular dementia (VD) by calculating Akaike's information criterion (AIC) and the area under the curve (AUC).

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Skeletal anomalies represent a characteristic feature of type 1 Gaucher disease (GD1). Here we evaluated the impact of an integrated therapy comprising enzyme-replacement therapy (ERT), cholecalciferol, and a normocalcemic-normocaloric-hyposodic diet (bone diet) on bone health in GD1 patients. We also performed a systematic review to compare our results with available data.

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Article Synopsis
  • The study investigates the effectiveness of the alar extension graft in treating external nasal valve collapse by measuring both functional and aesthetic outcomes.
  • Among 51 patients, results showed a 90% satisfaction rate regarding nasal breathing improvements, with significant enhancements in pre- and post-operative questionnaire scores related to nasal function and quality of life.
  • The findings indicate that the alar extension graft is a reliable surgical option that can successfully improve both subjective and objective nasal airflow, achieving favorable outcomes for patients.
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Background: It is of interest whether inflammatory biomarkers can improve dementia prediction models, such as the widely used Cardiovascular Risk Factors, Aging and Dementia (CAIDE) model.

Methods: The Olink Target 96 Inflammation panel was assessed in a nested case-cohort design within a large, population-based German cohort study (n = 9940; age-range: 50-75 years). All study participants who developed dementia over 20 years of follow-up and had complete CAIDE variable data (n = 562, including 173 Alzheimer's disease (AD) and 199 vascular dementia (VD) cases) as well as n = 1,356 controls were selected for measurements.

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Introduction: Family history of depression and childhood maltreatment are established risk factors for depression. However, how these factors are interrelated and jointly influence depression risk is not well understood. The present study investigated (i) if childhood maltreatment is associated with a family history of depression (ii) if family history and childhood maltreatment are associated with increased lifetime and current depression, and whether both factors interact beyond their main effects, and (iii) if family history affects lifetime and current depression via childhood maltreatment.

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In Video S1, a new surgical technique for hybrid primary tracheoesophageal (TE) puncture in stapler-assisted total laryngectomy is shown. The video describes the surgical steps of the procedure and illustrates some tips and tricks. The procedure incorporates an upper mini-pharyngotomy to enable retrograde placement of the voice prosthesis (VP), eliminating the need for rigid esophagoscopy.

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Background: Subjective cognitive complaints (SCC) have been mostly studied in the context of Alzheimer's disease in memory clinic settings. The potential of combining SCC with genetic information and blood biomarkers of neurodegenerative diseases for risk assessment of dementia and depression in the absence of dementia among community-dwelling older adults has so far not been explored.

Methods: Data were based on a population-based cohort of 6357 participants with a 17-year follow-up (ESTHER study) and a clinic-based cohort of 422 patients.

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  • Liver SBRT is being evaluated for its effectiveness in accurately positioning patients for treatment, focusing on comparing fiducial markers against liver contours and bone references.
  • A study involving 18 patients analyzed the differences in displacement when using these methods, revealing that fiducials were more reliable in positioning.
  • Results indicated that liver contouring yielded smaller displacements compared to bone references and was nearly as precise as fiducials, suggesting it could be a viable alternative when fiducials aren't used.
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We measured the nuclear-recoil ionization yield in silicon with a cryogenic phonon-sensitive gram-scale detector. Neutrons from a monoenergetic beam scatter off of the silicon nuclei at angles corresponding to energy depositions from 4 keV down to 100 eV, the lowest energy probed so far. The results show no sign of an ionization production threshold above 100 eV.

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Background: In order to utilize polygenic risk scores (PRSs) for Alzheimer's disease (AD) in a meaningful way, influential factors (i.e. training set) and prediction across groups such as APOE e4 (APOE4) genotype as well as associations to dementia-related biomarkers should be explored.

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  • The study investigates whether magnetic resonance imaging (MRI) provides better visualization of hepatocellular carcinoma compared to computed tomography (CT) for delineating the gross tumor volume (GTV) in liver stereotactic radiotherapy.
  • Eight radiation oncologists evaluated CT and MRI scans to define GTV volumes in five patients, with results showing minor differences in average volume delineation between the two imaging modalities.
  • The findings suggest that while CT is sufficient for well-defined tumors, MRI can be beneficial for cases where tumors are not clearly visible, highlighting significant interobserver variability in GTV delineation.
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Background: The aim of this study was to investigate the mediating role of the Big 5 personality traits (extraversion, neuroticism, openness, agreeableness, conscientiousness) in the association between early traumatization and depressive symptoms in early adulthood (20-25-year-olds) in a German population-based sample.

Methods: A total of 3176 participants from the German National Cohort (NAKO) baseline with an age between 20 and 25 years were included in this investigation. The sum score of the 9-item-version of the Patient Health Questionnaire was used for assessment of depressive symptoms.

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The ataxia-linked protein sacsin has three regions of partial homology to Hsp90's N-terminal ATP binding domain. Although a crystal structure for this Hsp90-like domain has been reported the precise molecular interactions required for ATP-binding and hydrolysis are unclear and it is debatable whether ATP biding is compatible with these domains. Furthermore, the Identification of a sacsin domain(s) equivalent to the middle domain of Hsp90 has been elusive.

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Importance: Previous research has suggested an association of kidney function with risk of Alzheimer disease (AD) or other dementias and dementia-related blood biomarkers, but a distinct association remains unclear.

Objective: To evaluate the association of kidney function with risk of diagnosis of incident AD or dementia within 17 years and with the blood biomarkers neurofilament light (NfL), phosphorylated tau181 (p-tau181), and glial fibrillary acidic protein (GFAP).

Design, Setting, And Participants: In this prospective, population-based cohort study and nested case-control study, 9940 participants in Germany were enrolled between 2000 and 2002 by their general practitioners and followed up for up to 17 years.

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Introduction: This study assessed whether in a population with comorbidity of neurodegenerative and cerebrovascular disease (mixed pathology) the association of glial fibrillary acidic protein (GFAP), neurofilament light chain (NfL), and phosphorylated tau181 (p-tau181) with dementia risk varied depending on levels of total cholesterol and apolipoprotein E (APOE) ε4 genotype.

Methods: Plasma biomarkers were measured using Simoa technology in 768 participants of a nested case-control study embedded within an ongoing population-based cohort. Logistic and spline regression models, and receiver operating characteristic curves were calculated.

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Molecular chaperones and their associated co-chaperones are essential in health and disease as they are key facilitators of protein-folding, quality control and function. In particular, the heat-shock protein (HSP) 70 and HSP90 molecular chaperone networks have been associated with neurodegenerative diseases caused by aberrant protein-folding. The pathogenesis of these disorders usually includes the formation of deposits of misfolded, aggregated protein.

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a childhood-onset cerebellar ataxia caused by mutations in SACS, which encodes the protein sacsin. Cellular ARSACS phenotypes include mitochondrial dysfunction, intermediate filament disorganization, and progressive death of cerebellar Purkinje neurons. It is unclear why the loss of sacsin causes these deficits or why they manifest as cerebellar ataxia.

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Background: Chronic inflammation is a central feature of several forms of dementia. However, few details on the associations of blood-based inflammation-related proteins with dementia incidence have been explored yet.

Methods: The Olink Target 96 Inflammation panel was measured in baseline serum samples (collected 07/2000-06/2002) of 1782 older adults from a German, population-based cohort study in a case-cohort design.

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Article Synopsis
  • * A study evaluated over-65 patients with PFFs, comparing those on oral anticoagulants (Group A) and those not on them (Group B), finding higher surgical delays and increased need for blood transfusions in Group A.
  • * Patients on oral anticoagulants had a greater risk of combined complications, emphasizing the need for quick stabilization and surgery to improve outcomes for these patients.
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Introduction: Subjective cognitive decline (SCD) is an established precursor of dementia. However, the relationship between SCD and dementia has been mostly studied among people aged 65+. We aimed to assess the association between subjective memory difficulties at ages 50-75 with all-cause dementia and dementia-subtypes in a community-based cohort with long-term follow-up.

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Unlabelled: Supportive family and friendship ties can serve different functions and thus might show different associations with an individual's health. Particularly, older adults might show varying health benefits of different types of supportive ties depending on their marital and retirement status. Our aim is to analyze relationships between different types of supportive social ties and autonomic nervous system (ANS) function, a physiological indicator of health that can help to establish the biological plausibility of the association-measured by heart rate variability (HRV).

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Background: A large body of evidence supports a link between type 2 diabetes mellitus (T2DM) and cognitive function, including dementia. However, longitudinal studies on the association between T2DM and decline of cognitive function are scarce and reported mixed results, and we hence set out to investigate the cross-sectional and longitudinal association between T2DM and global as well as domain-specific cognitive performance.

Methods: We used multivariable regression models to assess associations of T2DM with cognitive performance and cognitive decline in a subsample of a population-based prospective cohort study (ESTHER).

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