Gut microbiota in Alzheimer's disease: Understanding molecular pathways and potential therapeutic perspectives.

Accumulating evidence suggests that gut microbiota (GM) plays a crucial role in Alzheimer's disease (AD) pathogenesis and progression. This narrative review explores the complex interplay between GM, the immune system, and the central nervous system in AD. We discuss mechanisms through which GM dysbiosis can compromise intestinal barrier integrity, enabling pro-inflammatory molecules and metabolites to enter systemic circulation and the brain, potentially contributing to AD hallmarks.

Resting-State EEG Alpha Rhythms Are Related to CSF Tau Biomarkers in Prodromal Alzheimer's Disease.

Patients with mild cognitive impairment due to Alzheimer's disease (ADMCI) typically show abnormally high delta (<4 Hz) and low alpha (8-12 Hz) rhythms measured from resting-state eyes-closed electroencephalographic (rsEEG) activity. Here, we hypothesized that the abnormalities in rsEEG activity may be greater in ADMCI patients than in those with MCI not due to AD (noADMCI). Furthermore, they may be associated with the diagnostic cerebrospinal fluid (CSF) amyloid-tau biomarkers in ADMCI patients.

Evaluating the Differential Effects of Dopamine Agonists and Clonazepam on Large Muscle Group Movements in Restless Legs Syndrome.

Study Objectives: This study aimed to investigate the effect of dopamine agonists (DA) and Clonazepam on Large Muscle Group Movements during sleep (LMM), a distinct motor phenomenon, in Restless Legs Syndrome (RLS).

Methods: A retrospective analysis was conducted on 51 drug-free adult patients with RLS, divided into three groups: 33 received a DA (pramipexole or ropinirole), 15 received clonazepam, and 18 received a placebo. Each patient underwent two consecutive nocturnal polysomnographic (PSG) recordings: one baseline and one following treatment administration.

Sleep and circadian disturbances in children with neurodevelopmental disorders.

Sleep is essential for brain development and overall health, particularly in children with neurodevelopmental disorders (NDDs). Sleep disruptions can considerably impact brain structure and function, leading to dysfunction of neurotransmitter systems, metabolism, hormonal balance and inflammatory processes, potentially contributing to the pathophysiology of NDDs. This Review examines the prevalence, types and mechanisms of sleep disturbances in children with NDDs, including autism spectrum disorder, attention-deficit hyperactivity disorder and various genetic syndromes.

Novel sigma 1-antagonists with -(+)-normetazocine scaffold: synthesis, molecular modeling, and antinociceptive effect.

Inflammatory pain represents one of the unmet clinical needs for patients, as conventional therapies cause several side effects. Recently, new targets involved in inflammatory pain modulation have been identified, including the sigma-1 receptor (σ1R). Selective σ1R antagonists have demonstrated analgesic efficacy in acute and chronic inflammatory pain models.

Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis.

This study describes two siblings from consanguineous parents who exhibit intellectual disability, microcephaly, photosensitivity, bilateral sensorineural hearing loss, numerous freckles, and other clinical features that suggest a potential disruption of the nucleotide excision repair (NER) pathway. Whole exome sequencing (WES) identified a novel homozygous missense variant in the gene, which was predicted to be pathogenic. However, a subsequent peculiar audiometric finding prompted further investigation, revealing a homozygous deletion in the gene linked to neurosensorial hearing loss.

Exploring the Role of , a New Potential Gene Involved in Borderline Intellectual Functioning, Psychological and Metabolic Disorders.

AMPylation is a post-translational modification involving the transfer of adenosine monophosphate (AMP) from adenosine triphosphate (ATP) to target proteins, serving as a critical regulatory mechanism in cellular functions. This study aimed to expand the phenotypic spectrum associated with mutations in the FICD gene, which encodes an adenyltransferase enzyme involved in both AMPylation and deAMPylation. A clinical evaluation was conducted on a patient presenting with a complex clinical profile.

REM sleep atonia in patients with pediatric acute-onset neuropsychiatric syndrome (PANS): implications for pathophysiology.

Study Objectives: Sleep disorders and/or disordered sleep represent common clinical presentations of pediatric acute-onset neuropsychiatric syndrome (PANS), occurring in up to 80% of affected children, with REM sleep motor disinhibition being a prevalent feature. To date, limited polysomnographic (PSG) studies have been conducted. Therefore, the objective of this study was to evaluate the PSG characteristics of a cohort of children with PANS, focusing particularly on REM sleep without atonia (RSWA) as assessed by the REM atonia index (RAI), and to compare these characteristics with those of a control group.

Dynamical complexity of postural control system in autism spectrum disorder: a feasibility study of linear and non-linear measures in posturographic analysis of upright posture.

Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder, characterized by impairments in social interaction and communication with restricted and repetitive behavior. Postural and motor disturbances occur more often in ASD, in comparison to typically developing subjects, affecting the quality of life. Linear and non-linear indexes derived from the trajectory of the center of pressure (COP) while subjects stand on force platforms are commonly used to assess postural stability.

A comparative study of depressive and anxiety symptoms, insomnia, and sleepiness in patients with obstructive sleep apnea, restless legs syndrome, or both (CO-ROSA): preliminary findings from a retrospective study.

Patients with obstructive sleep apnea (OSA), restless legs syndrome (RLS), or both may exhibit varied manifestations of depressive and anxiety symptomatology, reflecting the complex interplay between sleep disturbances, neurotransmitter imbalances, and psychosocial stressors in these often overlapping conditions. The aim of this study was to compare depressive and anxiety symptomatology, insomnia severity, and sleepiness in these conditions. Patients were enrolled and subdivided into those with OSA, RLS, and OSA + RLS.

The Role of ETNPPL in Dopaminergic Neuron Stability: Insights from Neuromelanin-Associated Protein Expression in Parkinson's Disease.

More than six million people worldwide are affected by Parkinson's disease (PD), a multifactorial disorder characterized by the progressive loss of dopaminergic neurons in the substantia nigra pars compacta (SNc). Several immunohistochemical studies suggest that neuromelanin (NM), found in these neurons, plays a key role in their degeneration. In this study, twelve formalin-fixed, paraffin-embedded (FFPE) brain sections were analyzed, comprising six samples from PD patients and six from healthy controls.

Advanced AI techniques for classifying Alzheimer's disease and mild cognitive impairment.

Background: Alzheimer's disease and mild cognitive impairment are often difficult to differentiate due to their progressive nature and overlapping symptoms. The lack of reliable biomarkers further complicates early diagnosis. As the global population ages, the incidence of cognitive disorders increases, making the need for accurate diagnosis critical.

Different patterns of acute saccadic response to levodopa in de novo Parkinson's disease.

Background: L-dopa (LD) effects on visually guided saccades (VGS) have been poorly investigated in de novo Parkinson's disease (PD) patients through a standardized acute challenge test.

Objectives: To assess the acute saccadic effects of LD as well as possible different patterns of VGS response to LD in a consistent population of de novo PD.

Methods: VGS were assessed among de novo PD at baseline and 2 h after the administration of LD/carbidopa 250/25 mg.

The revival of psilocybin between scientific excitement, evidence of efficacy, and real-world challenges.

The revival of psilocybin in psychopharmacological research heralds a potential paradigm shift for treating mood and anxiety disorders, and other psychiatric conditions beyond the psychotic spectrum. This critical review evaluates current evidence on psilocybin's efficacy, juxtaposing potential benefits with the practical aspects of psychedelic-assisted psychotherapy (PAP) and the methodological constraints of existing research.An electronic literature search was conducted using PubMed/MEDLINE, selecting studies published up to December 2023 that explored the clinical use of psilocybin in mood and anxiety disorders, obsessive-compulsive disorder, post-traumatic stress disorder, and substance use disorder.

Differences in emotion recognition between nonimmersive versus immersive virtual reality: preliminary findings in schizophrenia and bipolar disorder.

Deficits in social cognition may impair emotional processing and facial emotional recognition (FER) in patients with bipolar disorder (BD) and schizophrenia. FER is generally explored using photographs or images of static faces that do not fully capture the complexity of real-life facial stimuli. To overcome this limitation, we developed a set of dynamic virtual faces depicting six basic emotions (i.

Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.

Cardiac involvement (CI) in phosphomannomutase 2-congenital disorders of glycosylation (PMM2-CDG) is part of the multisystemic presentation contributing to high mortality rates. The most common cardiac manifestations are pericardial effusion, cardiomyopathy, and structural heart defects. A genotype-phenotype correlation with organ involvement has not yet been described.

National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

Background: We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period.

Methods: Fifteen paediatric and adult tertiary Italian epilepsy centres participated in a survey related to 98 genes included in the molecular diagnostic workflows of most centres. We included patients with a clinical diagnosis of DEE, caused by a pathogenic or likely pathogenic variant in one of the selected genes, with a molecular diagnosis established between 2012 and 2022.

Long-term safety and effectiveness of a somatropin biosimilar (Omnitrope) in children requiring growth hormone therapy: analysis of final data of Italian patients enrolled in the PATRO children study.

Purpose: Omnitrope (a somatropin biosimilar), used to treat growth disturbances, is considered to have a good safety profile in children. Here, we present the analysis of final data of the Italian cohort of the PAtients TReated with Omnitrope (PATRO) Children study.

Methods: This multicenter, open-label, longitudinal, post-marketing surveillance study enrolled eligible children during 2010-2018.