People with HIV (PWH) have a higher risk of central nervous system (CNS) diseases and a timely differential diagnosis may be essential for patient management. Cerebrospinal fluid (CSF) biomarkers have Show more
People with HIV (PWH) have a higher risk of central nervous system (CNS) diseases and a timely differential diagnosis may be essential for patient management. Cerebrospinal fluid (CSF) biomarkers have proven effective in diagnosing neuronal and astrocyte involvement in neurological disorders, but the invasiveness of this method makes it difficult to obtain results; thus, easy-to-obtain matrices (e.g., plasma) have to be analysed. Consequently, the aim of this study was to quantify biomarkers in both serum and CSF with different kits, correlating levels obtained in the two matrices and understanding their impact on blood brain barrier (BBB) permeability. CSF and serum from PWH were analysed through Single Molecule Array (Simoa SR-X, Quanterix). We measured markers of neuronal damage (NfL, tau, ptau), β-amyloid peptides (Aβ Show less
Neurodegenerative diseases (NDs) such as Alzheimer's disease (AD) and Parkinson's disease (PD) represent a growing global health concern with no definitive cure. Increasing evidence suggests that mind Show more
Neurodegenerative diseases (NDs) such as Alzheimer's disease (AD) and Parkinson's disease (PD) represent a growing global health concern with no definitive cure. Increasing evidence suggests that mind-body practices like yoga may offer neuroprotective benefits by modulating stress, neuroinflammation, and neuroplasticity. This narrative review explores the clinical outcomes, mechanistic insights, and biomarker evidence supporting yoga as a therapeutic intervention for AD and PD. Different studies indicate that regular yoga improves motor and cognitive functions, mood, and quality of life in affected individuals. At the molecular level, yoga enhances neurotrophic factors such as brain-derived neurotrophic factor (BDNF), reduces pro-inflammatory cytokines (e.g., IL-6, TNF-α), mitigates oxidative stress, and may preserve gray matter volume in key brain regions. These findings support the hypothesis that yoga induces favorable neuroplastic adaptations that may slow neurodegeneration. Despite encouraging early results, heterogeneity in study design, intervention duration, and sample size issues have limited the incorporation of neuroimaging and biomarker endpoints, which means further studies are warranted to clarify yoga's therapeutic potential and mechanism in ND management. Show less
Congenital hypogonadotropic hypogonadism (CHH) is a rare and heterogeneous genetic disorder with variable penetrance caused by GnRH deficiency, leading to delayed puberty and infertility. In 50-60% of Show more
Congenital hypogonadotropic hypogonadism (CHH) is a rare and heterogeneous genetic disorder with variable penetrance caused by GnRH deficiency, leading to delayed puberty and infertility. In 50-60% of cases, CHH is associated with non-reproductive abnormalities, most commonly anosmia/hyposmia (Kallmann syndrome, KS). Over 60 genes have been implicated in CHH pathogenesis. We aimed to perform genetic screening in a cohort of 14 patients (10 males, 4 females; mean age 22 ± 7.72 years) with suspected or diagnosed HH/KS. Genetic analysis was conducted using next-generation sequencing (NGS) with a custom panel of 46 candidate genes. Variant interpretation followed ACMG standards and guidelines. Multiple tools were used to predict the structural effects of variants on tertiary protein structure, assessing their pathogenicity. Novel variants were functionally characterized by qRT-PCR on mRNA extracted from peripheral leukocytes. NGS identified nine rare variants and four novel variants in genes previously associated with normosmic isolated HH (nHH) and/or KS ( Show less