Publications by authors named "Galimberti D"

The body contour market has grown rapidly in recent years, due to persistent requests for noninvasive treatments for localized fat adiposities, cellulite, and skin laxity. A variety of different methods are now available to improve body shaping. This review aims to provide an exhaustive compendium of the main recommendations for the optimal use of an innovative device delivering microwaves (MWs) for unwanted fat and cellulite reduction (Onda Coolwaves, DEKA, Florence, Italy), resulting from the experiences of the most expert international users.

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Background: Frontotemporal lobar degeneration (FTLD) is one of the leading causes of early onset dementia. Pathogenic variants in GRN have been reported to cause 5-25% of familial and 5% of sporadic FTLD. Here, we present two novel, likely pathogenic variants in GRN.

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Understanding how alcohol molecules interact with the Brønsted acid sites (BAS) of zeolites is a prerequisite to the design of zeolite catalysts and catalytic processes. Here, we report IR spectra for the adsorption of ethanol on a highly crystalline sample of H-ZSM-5 zeolites exposed to ethanol gas at increasing pressure. We use density functional theory in combination with a FERMI resonance model to assign the measured spectra to a single adsorbed ethanol molecule per BAS.

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  • A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
  • The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
  • While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
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Background And Objectives: Sleep dysfunction is common in patients with neurodegenerative disorders; however, its neural underpinnings remain poorly characterized in genetic frontotemporal dementia (FTD). Hypothalamic nuclei important for sleep regulation may be related to this dysfunction. Thus, we examined changes in hypothalamic structure across the lifespan in patients with genetic FTD and whether these changes related to sleep dysfunction.

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Background And Objectives: Pathogenic variants in the gene cause frontotemporal dementia (FTD-) with marked brain asymmetry. This study aims to assess whether the disease progression of FTD- depends on the initial side of the atrophy. We also investigated the potential use of brain asymmetry as a biomarker of the disease.

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  • Researchers are exploring the significant shape changes in thermosalient materials, which have potential uses in actuators and sensors, but the mechanisms behind these changes remain unclear.
  • A study has identified the order parameter for the phase transition in a specific molecular crystal, revealing that the transition barrier disappears at its transition temperature.
  • The research combines computational simulations and experimental methods, showing that specific vibrational modes relate to the phase transition, and suggests that applying a computational THz pulse can induce this phase change quickly.
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  • Repeat expansions in the C9orf72 gene are a leading genetic cause of ALS and frontotemporal dementia, but understanding how this mutation causes neuron death is still unclear, complicating the search for effective therapies.
  • Researchers analyzed data from over 41,000 ALS and healthy samples to identify potential treatments, discovering that acamprosate, a drug used for other conditions, might be repurposed for C9orf72-related diseases.
  • Their findings demonstrated that acamprosate has neuroprotective properties in cell models and works similarly well as the current treatment, riluzole, showing the potential of using genomic data to find new drug applications.
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Introduction: Genetic mutation carriers of frontotemporal dementia can remain cognitively well despite neurodegeneration. A better understanding of brain structural, perfusion, and functional patterns in the pre-symptomatic stage could inform accurate staging and potential mechanisms.

Methods: We included 207 pre-symptomatic genetic mutation carriers and 188 relatives without mutations.

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Background And Objectives: Behavioral and neuropsychiatric symptoms are frequent in patients with genetic frontotemporal dementia (FTD). We aimed to describe behavioral and neuropsychiatric phenotypes in genetic FTD, quantify their temporal association, and investigate their regional association with brain atrophy.

Methods: We analyzed data of pathogenic variant carriers in the chromosome 9 open reading frame 72 (), progranulin (), or microtubule-associated protein tau () gene from the Genetic Frontotemporal dementia Initiative cohort study that enrolls both symptomatic pathogenic variant carriers and first-degree relatives of known carriers.

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The glymphatic system (GS) is a whole-brain perivascular network, consisting of three compartments: the periarterial and perivenous spaces and the interposed brain parenchyma. GS dysfunction has been implicated in neurodegenerative diseases, particularly Alzheimer's disease (AD). So far, comprehensive research on GS in humans has been limited by the absence of easily accessible biomarkers.

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Background: Inflammation has been proposed as a crucial player in neurodegeneration, including Frontotemporal Dementia (FTD). A few studies on sporadic FTD lead to inconclusive results, whereas large studies on genetic FTD are lacking. The aim of this study is to determine cytokine and chemokine plasma circulating levels in a large cohort of genetic FTD, collected within the GENetic Frontotemporal dementia Initiative (GENFI).

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Background: Long non-coding RNAs (lncRNAs) play crucial roles in gene regulation and are implicated in neurodegenerative diseases, including frontotemporal dementia (FTD). However, their expression patterns and potential as biomarkers in genetic FTD involving Chromosome 9 Open Reading Frame (C9ORF72), Microtubule Associated Protein Tau (MAPT), and Progranulin (GRN) genes are not well understood.

Objective: This study aimed to profile the expression levels of lncRNAs in peripheral blood mononuclear cells collected within the GENetic Frontotemporal dementia Initiative (GENFI).

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  • - The study explored how serum neurofilament light chain (sNfL) and glial fibrillary acidic protein (sGFAP) levels could predict worsening disability in multiple sclerosis (MS), enrolling 725 patients across 13 European hospitals from 1994 to 2023.
  • - Higher levels of sNfL were significantly associated with increased risks of relapse-associated worsening (RAW), progression independent of relapse activity (PIRA), and reaching an Expanded Disability Status Scale (EDSS) score of 3, while elevated sGFAP levels were linked to a higher risk of reaching the EDSS score.
  • - Combining both sNfL and sGFAP levels indicated that low values represented low risk for worsening
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Objective: To investigate cortical microstructural measures from diffusion MRI as "neurodegeneration" markers that could improve prognostic accuracy in mild cognitive impairment (MCI).

Methods: The prognostic power of Amyloid/Tau/Neurodegeneration (ATN) biomarkers to predict progression from MCI to AD or non-AD dementia was investigated. Ninety patients underwent clinical evaluation (follow-up interval 32 ± 18 months), lumbar puncture, and MRI.

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The glymphatic system is an emerging target in neurodegenerative disorders. Here, we investigated the activity of the glymphatic system in genetic frontotemporal dementia with a diffusion-based technique called diffusion tensor image analysis along the perivascular space. We investigated 291 subjects with symptomatic or presymptomatic frontotemporal dementia (112 with [] expansion, 119 with [] mutations and 60 with [] mutations) and 83 non-carriers (including 50 young and 33 old non-carriers).

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  • A multicenter study involving 18 centers in 12 countries examined 360 patients with frontotemporal dementia (FTD) characterized by right anterior temporal lobe (RATL) atrophy to create a unified clinical description of the syndrome.
  • Key symptoms identified in patients included mental rigidity (78%), disinhibition (74%), and naming difficulties (70%), with cognitive tests revealing specific deficits in social interactions and emotional recognition, though lacking in measuring mental rigidity.
  • The findings represent the largest cohort of its kind, highlighting under-acknowledged symptoms of RATL and providing valuable insights for clinicians to improve early diagnosis and management of FTD patients.
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  • * A study analyzed 4,685 sporadic FTD cases and found significant genetic variants at the MAPT and APOE loci that increase the risk for the disease, indicating potential genetic overlap with other neurodegenerative diseases.
  • * The genetic risk factors appear to vary by population, with MAPT and APOE associations predominantly found in Central/Nordic and Mediterranean Europeans, suggesting a need for further research into these population-specific features for better understanding of sporadic FTD.
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Background: There is a need for biomarkers of disease progression and therapeutic response in multiple sclerosis (MS). This study aimed to identify cerebrospinal fluid (CSF) lipids that differentiate MS from other neuroinflammatory conditions and correlate with Expanded Disability Status Scale (EDSS) scores, gadolinium-enhancing lesions or inflammatory mediators.

Methods: Lipids and inflammatory cytokines/chemokines were quantified with liquid chromatography-tandem mass spectrometry and multiplex ELISA, respectively, in CSF from people with untreated MS, neuromyelitis optica spectrum disorder (NMOSD), other inflammatory neurological diseases and non-inflammatory neurological diseases (NIND).

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Background: The erectile dysfunction (ED), which is the inability to achieve and/or sustain a penile erection sufficient to result in a satisfying sexual performance, represents a very common complaint. for men over forty years old. The aim of the study was to evaluate if Flat Magnetic Stimulation (FMS) technology could help individuals with symptomatic erectile dysfunction.

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Introduction: Frontotemporal dementia (FTD) includes a group of neurodegenerative diseases characterized clinically by behavioral disturbances and by neurodegeneration of brain anterior temporal and frontal lobes, leading to atrophy. Apart from symptomatic treatments, there is, at present, no disease-modifying cure for FTD.

Areas Covered: Three main mutations are known as causes of familial FTD, and large consortia have studied carriers of mutations, also in preclinical Phases.

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  • Effective longitudinal biomarkers, like cerebral perfusion, are crucial for tracking disease progression in presymptomatic genetic frontotemporal dementia (FTD) carriers.
  • The study examined cerebral perfusion in various genetic FTD groups using advanced MRI techniques and found declines in gray matter perfusion across all groups, with specific regional patterns.
  • Results suggest that monitoring cerebral perfusion could serve as an early biomarker for detecting FTD before symptoms appear, especially highlighting differences among genetic subgroups.
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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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Introduction: Differential diagnosis among subjects with Primary Progressive Aphasia (PPA) can be challenging. Structural MRI can support the clinical profile. Visual rating scales are a simple and reliable tool to assess brain atrophy in the clinical setting.

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