Publications by authors named "Cipriano Lorenzo"

Background: Brain connectome fingerprinting represents a recent and valid approach in assessing individual identifiability on the basis of the subject-specific brain functional connectome. Although this methodology has been tested and validated in several neurological diseases, its performance, reliability and reproducibility in healthy individuals has been poorly investigated. In particular, the impact of the changes in brain connectivity, induced by the different phases of the menstrual cycle (MC), on the reliability of this approach remains unexplored.

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Background: Arising in the late 1990s, when a promising role in prenatal diagnostics was first delineated for circulating fetal DNA, non-invasive prenatal tests (NIPTs) have been increasingly used with more frequency and popularity. These exams have been used as a prenatal screening tests for genetic diseases. Initially, they were developed for the investigation of the main fetal chromosomal aneuploidies, but lately they have also been used to rule out genomic microrearrangements and monogenic conditions.

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  • Defects in a specific gene are primarily linked to pseudohypoparathyroidism Ia (PHP1a), with various mutation types identified across all 13 exons.
  • A noteworthy mutation, a 4 bp deletion c.565_568delGACT, is recognized as a mutation hotspot, though focused studies on this variant have been limited.
  • The authors reported two PHP1a cases related to this deletion and found that patients with the c.565_568delGACT mutation exhibited a higher prevalence of certain characteristics—like brachydactyly and intellectual disability—compared to those with other mutations, suggesting a need for tailored patient monitoring.
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  • The cohesin complex gene is linked to critical functions like chromosome segregation and DNA repair, and variants can cause disorders with distinct physical and neurological symptoms.
  • Two twins with a novel de novo variant in this gene exhibited differing severity of neurodevelopmental delays, with one twin significantly more affected by behavioral and speech difficulties.
  • The study suggests variability in clinical presentations related to the gene, possibly influenced by other genetic factors, such as a discovered microduplication on chromosome 15.
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Although the aetio-pathogenesis of inflammatory bowel diseases (IBD) is not entirely clear, the interaction between genetic and adverse environmental factors may induce an intestinal dysbiosis, resulting in chronic inflammation having effects on the large-scale brain network. Here, we hypothesized inflammation-related changes in brain topology of IBD patients, regardless of the clinical form [ulcerative colitis (UC) or Crohn's disease (CD)]. To test this hypothesis, we analysed source-reconstructed magnetoencephalography (MEG) signals in 25 IBD patients (15 males, 10 females; mean age ± SD, 42.

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  • The CACNA1C gene is crucial for forming a component of the L-type calcium channel, and mutations in this gene are linked to several heart rhythm disorders, but recent studies also hint at neurological issues in children without heart problems.
  • A detailed review investigated neurological presentations associated with CACNA1C mutations, revealing a new pathogenic variant in a child who displayed a range of neurological and physical symptoms, but no cardiac issues.
  • The study underscores the need to assess the CACNA1C gene in cases of isolated neurological syndromes in children, emphasizing that the absence of heart symptoms doesn't rule out related disorders and may reveal diverse clinical manifestations.
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Objective: To test the hypothesis that patients affected by Amyotrophic Lateral Sclerosis (ALS) show an altered spatio-temporal spreading of neuronal avalanches in the brain, and that this may related to the clinical picture.

Methods: We obtained the source-reconstructed magnetoencephalography (MEG) signals from thirty-six ALS patients and forty-two healthy controls. Then, we used the construct of the avalanche transition matrix (ATM) and the corresponding network parameter nodal strength to quantify the changes in each region, since this parameter provides key information about which brain regions are mostly involved in the spreading avalanches.

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This study examined the stability of the functional connectome (FC) over time using fingerprint analysis in healthy subjects. Additionally, it investigated how a specific stressor, namely sleep deprivation, affects individuals' differentiation. To this aim, 23 healthy young adults underwent magnetoencephalography (MEG) recording at three equally spaced time points within 24 h: 9 a.

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Large-scale brain activity has long been investigated under the erroneous assumption of stationarity. Nowadays, we know that resting-state functional connectivity is characterized by aperiodic, scale-free bursts of activity (i.e.

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Three-dimensional motion analysis represents a quantitative approach to assess spatio-temporal and kinematic changes in health and disease. However, these parameters provide only segmental information, discarding minor changes of complex whole body kinematics characterizing physiological and/or pathological conditions. We aimed to assess how levodopa intake affects the whole body, analyzing the kinematic interactions during gait in Parkinson's disease (PD) through network theory which assess the relationships between elements of a system.

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Functional connectivity has been used as a framework to investigate widespread brain interactions underlying cognitive deficits in mild cognitive impairment (MCI). However, many functional connectivity metrics focus on the average of the periodic activities, disregarding the aperiodic bursts of activity (i.e.

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Background: Brain connectome fingerprinting is progressively gaining ground in the field of brain network analysis. It represents a valid approach in assessing the subject-specific connectivity and, according to recent studies, in predicting clinical impairment in some neurodegenerative diseases. Nevertheless, its performance, and clinical utility, in the Multiple Sclerosis (MS) field has not yet been investigated.

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Background: Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare but potentially reversible autoimmune encephalopathy. The most frequent neuroimaging correlates are normal brain MRI or non-specific white matter hyperintensities.

Methods: We present the first description of conus medullaris involvement, also providing an extensive review of MRI patterns described so far.

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Ocrelizumab is a humanized monoclonal antibody designed to bind to the CD20 molecule, resulting in a rapid depletion of B-cells; however, it has been shown that lymphocyte subpopulations other than B-cells are affected by the drug. To review the effects of ocrelizumab on circulating lymphocytes and identify candidate biomarkers to predict and monitor treatment response. A literature search for the most relevant articles from 2006 to 2022 was conducted in PubMed and Scopus.

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  • Posterior cortical atrophy (PCA) is a neurodegenerative disorder primarily affecting visual functions, often associated with Alzheimer's disease but increasingly linked to frontotemporal lobar degeneration (FTLD).
  • A systematic review of clinical studies found significant differences in the manifestations of PCA-AD and PCA-FTD/non-AD, noting that hallucinations were not present in PCA-FTD patients, while symptoms like optical ataxia and Parkinsonism were more common in PCA-FTD.
  • The study highlights specific clinical features and brain patterns that could help in diagnosing the different types of PCA and understanding their underlying pathologies.
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  • Cerebral microbleeds (CMBs), particularly lobar ones (L-CMBs), have been linked to cognitive issues despite previously being seen as clinically insignificant.* -
  • A systematic review analyzed various studies between 2000 and 2020 to investigate the relationship between L-CMBs and cognitive functions, focusing on executive performance, visuospatial skills, language, and memory.* -
  • Results showed that L-CMBs were associated with decreased executive function and visuospatial skills, hinting at potential Alzheimer's disease pathology even when typical memory impairments are not present.*
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  • - This study investigates the language deficits and brain atrophy in patients with primary progressive aphasia (PPA) linked to C9orf72 repeat expansions, analyzing 16 patients from diverse cohorts.
  • - The research identifies that the most common type of aphasia associated with C9orf72 is the non-fluent/agrammatic variant, characterized by speech apraxia and significant left frontal lobe atrophy.
  • - Findings highlight the need for C9orf72 testing in PPA patients, emphasizing the potential for gene-specific treatments in the future by mapping how C9orf72 mutations affect language-related brain areas.
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  • Pseudoxanthoma elasticum (PXE) is a rare genetic disorder caused by changes in the ABCC6 gene, leading to various symptoms primarily affecting the skin, eyes, and blood vessels, with some brain symptoms observed.
  • A large family with PXE was studied, revealing different genetic mutations and investigating the role of thrombophilic gene variants in increased brain complications among affected individuals.
  • The findings suggest that the 4G/4G SERPINE1 genotype may heighten the risk of ischemic stroke in PXE patients, emphasizing the need for screening for brain issues, especially in those with a family history of related complications.
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Background: Alzheimer's disease (AD) is the most common age-related dementia. Besides its typical presentation with amnestic syndrome at onset, atypical AD cases are being increasingly recognized, often in presenile age.

Objectives: To provide an extensive clinical and genetic characterization of six AD patients carrying one or more singular features, including age of onset, atypical phenotype and disease progression rate.

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  • Esophageal achalasia is a progressive disorder where the esophagus can't properly push food down due to a non-relaxing lower esophageal sphincter (LES), causing swallowing difficulties.
  • Currently, there is no definitive cure, but palliative treatments aim to ease symptoms and help food pass through the esophagus.
  • Endoscopic therapies like pneumatic dilation and botulinum toxin injections can help, with pneumatic dilation showing better results, and per oral endoscopic myotomy being a newer option still needing more research for long-term effectiveness.
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