Detecting amyloid and tau pathology in Parkinson's disease, 4R-tauopathies and control subjects with plasma pTau217.

Introduction: Plasma phospho-tau 217 (pTau217) is a biomarker for Alzheimer's disease (AD) pathology, reflecting amyloid (Aβ) and tau burden, but its role in Parkinson disease (PD) and 4-repeat(4R)-tauopathies remains incompletely understood. We measured plasma pTau217 across the cognitive spectrum of Lewy body diseases (PD, Dementia with Lewy bodies [DLB]) and in 4R-tauopathies, comparing these groups to cognitively unimpaired (CU) and mild cognitive impairment (MCI) individuals.

Methods: Participants included 18 cognitively normal PD (PD-NC), 32 PD with MCI, and 7 PD with dementia (PDD), alongside 4 DLB patients, grouped as PDD/DLB.

The role of blood-based biomarkers in Parkinsonian disorders, Alzheimer's disease and frontotemporal dementia.

The complexity of neurodegenerative disorders necessitates an integrative approach that incorporates morphological, functional, and molecular biomarkers. The advent of highly sensitive single-molecule array (Simoa®) assays has significantly enhanced the accuracy of blood-based biomarker quantification, including glial fibrillary acidic protein (GFAP), neurofilament light chain (NfL), and phosphorylated tau181 (p-tau181). This study evaluates the diagnostic utility of these biomarkers in neurodegenerative diseases.

Clinical use and reporting of neurofilament quantification in neurological disorders: A global overview.

Introduction: Neurofilament light chain (NfL) quantification aids in diagnosing and predicting neurological disorders, but clinical and laboratory practices vary across centers. Differences in result interpretation and reporting further challenge test commutability. This study aimed to review the global analytical and post-analytical methods used for NfL measurement in routine clinical practice across different contexts.

Improving care for individuals with gender incongruence: Establishing a multidisciplinary approach in Italy.

Purpose: To present a multidisciplinary care model designed to provide personalized gender-affirming care and assess general health for transgender and gender-diverse (TGD) individuals.

Methods: Drawing from our experience in a tertiary center in Padua (Italy), the Interdisciplinary Group for Gender Incongruence (GIIG) model employs a multidisciplinary approach to provide diverse gender-affirmation services. Mental health support, gender-affirming medical and surgical treatments (GAMST), screening programs, and regular follow-up ensure treatment safety and efficacy.

A cost-effective assessment for the combination of indirect immunofluorescence and solid-phase assay in ANA-screening.

Objectives: Anti-nuclear antibodies (ANA) testing on indirect immunofluorescence (IIF) has been for a long time the gold standard assay in the diagnosis of rheumatic diseases; more recently different solid phase assays (SPA) have been recommended to increase specificity of positive results. The best combination of the different assays should both reduce the time to diagnosis and the costs of testing.

Methods: Serum samples from 995 unselected outpatients were analysed simultaneously using IIF and a fluorescent enzyme SPA as initial screening test.

Influence of androgen receptor on bone health in transgender adults: insights from the COMET study.

Purpose: Previous studies show that transgender and gender-diverse (TGD) individuals, especially those assigned male at birth (AMAB), often have low bone mineral density (BMD) before beginning gender-affirming hormone therapy (GAHT). The reasons for this are not fully understood, and the potential role of androgen receptor (AR) polymorphisms - known to affect bone density in the general population - has not been explored. This study aims to assess the impact of AR polymorphisms on bone health in the TGD population.

Blood biomarkers for Alzheimer's disease with the Lumipulse automated platform: Age-effect and clinical value interpretation.

Background: Advances in analytical methods have recently paved the way to Alzheimer's disease (AD) biomarkers testing in blood along with the more established CSF testing. To ensure a forthcoming application of this low-invasive diagnostic that might allow to recognize early onset of dementia, appropriate pathological cut-points need to be defined.

Methods: In this cross-sectional study we measured blood and CSF neurofilament light chain (NFL), phosphorylated tau (pTau 181), Amyloid-β1-42 (AB 1-42) and Amyloid-β1-40 (AB 1-40) on a fully automated chemiluminescent platform (Lumipulse, Fujirebio) in 80 cognitively impaired patients and 55 cognitively unimpaired subjects.

Troponin T in spinal and bulbar muscular atrophy (SBMA).

Serum biomarkers that might detect clinical progression are currently lacking for Spinal and bulbar muscular atrophy (SBMA), thus limiting the effectiveness of possible future pharmacological trials. Elevation of cardiac troponin T (cTnT) unrelated to myocardial damage in a motor neuron (MN) disease as amyotrophic lateral sclerosis (ALS) was associated to disease severity. We enrolled 47 SBMA patients and 5 Spinal muscular atrophy (SMA) type 3 adult patients as control group; each SBMA patient was evaluated at baseline and at one-year follow-up visit.

Rapidly progressive multiple system atrophy in a patient carrying LRRK2 G2019S mutation.

Background: Multiple system atrophy (MSA) is considered a primarily sporadic neurodegenerative disease, but the role of genetic is poorly understood.

Case: We present a female patient of Moroccan origin who developed a rapidly progressive non-levodopa responsive parkinsonism, gait and balance problems, and dysautonomia including severe bulbar symptoms. She was diagnosed with MSA Parkinsonian-type (MSA-P) and suddenly died at night at 58 years of age.

Inflammation, Autoinflammation and Autoimmunity in Inflammatory Bowel Diseases.

In this review, the role of innate and adaptive immunity in the pathogenesis of inflammatory bowel diseases (IBD) is reported. In IBD, an altered innate immunity is often found, with increased Th17 and decreased Treg cells infiltrating the intestinal mucosa. An associated increase in inflammatory cytokines, such as IL-1 and TNF-α, and a decrease in anti-inflammatory cytokines, such as IL-10, concur in favoring the persistent inflammation of the gut mucosa.

Analytical evaluation of a GAD65 antibodies chemiluminescence immunoassay for CSF in neurological syndromes.

Objectives: Antibodies against glutamic acid decarboxylase isoform 65 (GAD-Ab) have been found in different severe neurological conditions associated with altered synthesis of γ-aminobutyric acid (GABA). Serum GAD-Ab can be found in up to 90 % of patients with type 1 diabetes mellitus (T1DM), mostly at relatively low concentrations, while high concentrations of GAD-ab are thought to be more frequently associate to a neurological condition, with levels 100-folds higher than those found in T1DM. Although CSF testing is recommended when suspecting a GAD-associated neurological syndrome, no commercial immunoassay is validated for this use and no cut-off is internationally recognized to support the diagnosis.

T Cell Senescence by Extensive Phenotyping: An Emerging Feature of COVID-19 Severity.

Objective: To identify the potential prognostic value of lymphocyte subsets in COVID-19 patients, where lymphopenia is a common finding.

Methods: In 353 COVID-19 inpatients and 40 controls T cell subsets with markers of senescence and exhaustion were studied by flow cytometry.

Results: In severe illness, total lymphocytes B, NK, and all T subsets were dampened.

Evaluation of peripherin in biofluids of patients with motor neuron diseases.

Peripherin (PRPH), a type III intermediate filament, assembles with neurofilaments in neurons of the peripheral nervous system, including lower motor neurons (LMN). To evaluate the role of PRPH in LMN degeneration, we assessed PRPH and neurofilament light chain (NfL) in cerebrospinal fluid (CSF) and serum of 91 patients with motor neuron diseases (MND) and 69 controls. Overall, we found PRPH to be more concentrated in serum than in CSF.

Possible clinical role of MOG antibody testing in children presenting with acute neurological symptoms.

The differential diagnosis between acquired inflammatory demyelinating syndromes of the central nervous system (CNS), such as multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD) and acute disseminated encephalomyelitis (ADEM) can be very challenging at onset. Apart from cerebrospinal fluid oligoclonal bands and anti-aquaporin-4 antibodies (AQP4-Ab), definite diagnostic biomarkers are lacking. Anti-myelin oligodendrocyte glycoprotein antibodies (MOG-Abs) have been increasingly described in children with AQP4-seronegative NMOSD, ADEM and other inflammatory demyelinating CND syndromes; despite partial overlaps with AQP4-Ab disease, a novel "MOG-Ab-disorder" phenotype has been suggested.

Ves-Matic CUBE 200: is modified Westergren method for erythrocyte sedimentation rate a valid alternative to the gold standard?

Ves-Matic CUBE 200 is an automated erythrocyte sedimentation rate (ESR) analyser based on the modified Westergren principle of measurement. In this study, we aimed to assess its analytical performance following the key points addressed by the International Council for Standardization in Haematology and the comparability with the gold standard Westergren method. Comparison of the two methods yielded a correlation coefficient of 0.