Publications by authors named "Mata S"

Cyclopropanes are commonly used as valuable 3-carbon building blocks. Herein, we disclose a different reactivity pattern of furanyl cyclopropanes, which serve as a 4-carbon component in Lewis acid-promoted [4+2] cycloadditions with nitrosoarenes to afford 1,2-oxazine derivatives. Importantly, the regioselectivity of the cycloaddition reaction can be controlled by the appropriate choice of the Lewis acid.

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Article Synopsis
  • Hematopoietic stem cell transplantation (HSCT) can lead to serious complications like sinusoidal obstruction syndrome (SOS) and graft-versus-host disease (GVHD), which may show overlapping symptoms but rarely occur together.
  • A case of a 29-year-old male with acute myeloid leukemia experienced hyperbilirubinemia and signs of SOS early after HSCT, followed by the development of GVHD affecting his skin, intestines, and liver.
  • The complex nature of this case highlights the need for careful diagnostics, including liver hemodynamic studies and biopsies, to distinguish between SOS and GVHD, as both conditions can severely impact patient outcomes.
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Background: With advancing age among older adults, the associated debilities increase, indicating a deteriorating health status as there is a gradual loss of muscle mass, strength, and functionality. Ayush Rasayana A and B are coded Ayurvedic medicines developed from herbal extracts. This study has been planned to prevent debilitating conditions and improve the quality of life (QOL) in older adults.

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Background: Allergic rhinitis (AR) is the inflammation of the membranes lining the nose due to allergen exposure and is characterized by sneezing, nasal congestion, itching of the nose, or postnasal discharge. The prevalence varies worldwide, perhaps due to the geographic and aeroallergen differences, with 10% to 30% of the world's population experiencing AR. In this study, Anu Taila Nasya, Naradiya Laxmivilas Rasa, and Shirishadi Kwath will be compared to a fluticasone nasal spray.

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Background And Aims: Since 2016, biallelic mutations in the membrane metalloendopeptidase (MME) gene have been associated with late-onset recessive CMT2 (CMT2T). More recently, heterozygous mutations have also been identified in familial and sporadic patients with late-onset axonal neuropathy, ranging from subclinical to severe. This indicates that the heterozygous MME variants may not be fully penetrant, or alternatively, that they may be a potential risk factor for neuropathy.

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Background And Purpose: This study was undertaken to compare the sensitivity and specificity of the 2010 European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) diagnostic criteria for multifocal motor neuropathy (MMN) with those of the American Association of Electrodiagnostic Medicine (AAEM).

Methods: Sensitivity and specificity of the two sets of criteria were retrospectively evaluated in 53 patients with MMN and 280 controls with axonal peripheral neuropathy, inflammatory demyelinating polyneuropathy, or amyotrophic lateral sclerosis. Comparison of the utility of nerve conduction studies with different numbers of nerves examined was also assessed.

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We aim to develop a deep learning-based algorithm for automated segmentation of thigh muscles and subcutaneous adipose tissue (SAT) from T1-weighted muscle MRIs from patients affected by muscular dystrophies (MDs). From March 2019 to February 2022, adult and pediatric patients affected by MDs were enrolled from Azienda Ospedaliera Universitaria Pisana, Pisa, Italy (Institution 1) and the IRCCS Stella Maris Foundation, Calambrone-Pisa, Italy (Institution 2), respectively. All patients underwent a bilateral thighs MRI including an axial T1 weighted in- and out-of-phase (dual-echo).

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The synthesis of housane derivatives from cyclopropenes is described. Under rhodium(II) catalysis, cyclopropenylvinyl carbinols can regioselectively generate a carbene intermediate which undergoes an intramolecular cyclopropanation to form a housane, a skeleton with similar ring strain as the cyclopropene precursor. The procedure shows a remarkable broad scope and efficiency.

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Few studies have combined the analysis of use-wear traces, traceology, and the proteomic taxonomic identification method Zooarchaeology by Mass Spectrometry (ZooMS). Traceology provides information on the usage, in this case, of bone artefacts, while ZooMS allows for taxonomic identifications where diagnostic features are otherwise gone. The approaches therefore offer complementary information on bone artefacts, allowing for insights into species selection strategies in bone tool manufacture and their subsequent use.

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Dysphagia is a symptom that appears with high prevalence in persons diagnosed with dementia, intellectual disability, or severe mental illness. Risk of aspiration pneumonia or even death is very high in these populations. However, screening for dysphagia risk in these patients is complicated by the fact that most of them suffer from cognitive impairments and behavioral manifestations that hinder the assessment process using the existing screening tests.

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The digital extraction of detailed neuronal morphologies from microscopy data is an essential step in the study of neurons. Ever since Cajal's work, the acquisition and analysis of neuron anatomy has yielded invaluable insight into the nervous system, which has led to our present understanding of many structural and functional aspects of the brain and the nervous system, well beyond the anatomical perspective. Obtaining detailed anatomical data, though, is not a simple task.

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Background And Purpose: This study aimed to assess the diagnostic criteria, ancillary investigations and treatment response using real-life data in multifocal motor neuropathy (MMN) patients.

Methods: Clinical and laboratory data were collected from 110 patients enrolled in the Italian MMN database through a structured questionnaire. Twenty-six patients were excluded due to the unavailability of nerve conduction studies or the presence of clinical signs and symptoms and electrodiagnostic abnormalities inconsistent with the MMN diagnosis.

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6-Aminopenicillanic acid is a penicillanic acid compound and is the active nucleus common to all penicillins. Using laser ablation techniques, we transformed the solid into the gas phase and characterized its conformational panorama by combining supersonic expansions and Fourier transform microwave techniques. Five conformers were determined, adopting different spatial configurations.

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Article Synopsis
  • The 2021 EAN/PNS guidelines provide detailed clinical criteria to diagnose various variants of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), despite the lack of research on their treatment impact.
  • In a study involving 369 patients from the Italian CIDP database, 66% were diagnosed with different CIDP variants using these new criteria, revealing a distribution of typical and atypical forms.
  • The findings indicate that patients with multifocal, distal, and sensory CIDP often experience milder symptoms and may respond differently to steroid treatments compared to those with other variants, underscoring the need for specific guidelines in managing CIDP.
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The mutations on microtubule associated protein tau (MAPT) gene manifest clinically with behavioural frontotemporal dementia (FTD), parkinsonism, such as progressive supranuclear palsy and corticobasal degeneration, and rarely with amyotrophic lateral sclerosis (ALS). FTD-parkinsonism and FTD-ALS are clinical overlaps included in the spectrum of MAPT mutation's phenotypes. The mutations on MAPT gene cause the dysfunction of tau protein determining its accumulation in neurofibrillary tangles.

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Objective: Mutations in the valosin-containing protein (VCP) gene cause autosomal dominant multisystem proteinopathy 1 (MSP1), characterized by a variable combination of inclusion body myopathy (IBM), Paget's disease of bone (PDB), and frontotemporal dementia (FTD). Here we report a novel VCP missense mutations in an Italian family with FTD as the prevalent manifestation and compare our results with those described in the literature.

Methods: We described the clinical, molecular, and imaging data of the studied family.

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ALCAR (Acetyl-L-carnitine) is a donor of acetyl groups and increases the intracellular levels of carnitine, the primary transporter of fatty acids across the mitochondrial membranes. In vivo studies showed that ALCAR decrease oxidative stress markers and pro-inflammatory cytokines. In a previous double-blind placebo-controlled phase II trial showed positive effects on self-sufficiency (defined as a score of 3+ on the ALSFRS-R items for swallowing, cutting food and handling utensils, and walking) ALSFRS-R total score and FVC.

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Background: To assess the ability of the 2021 European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) clinical criteria for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) to include within their classification the whole spectrum of clinical heterogeneity of the disease and to define the clinical characteristics of the unclassifiable clinical forms.

Methods: The 2021 EAN/PNS clinical criteria for CIDP were applied to 329 patients fulfilling the electrodiagnostic (and in some cases also the supportive) criteria for the diagnosis of CIDP. Clinical characteristics were reviewed for each patient not strictly fulfilling the clinical criteria ('unclassifiable').

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Background: The incidence of Amyotrophic Lateral Sclerosis (ALS) varies among different geographical areas and seems to increase over time. This study aimed to examine the epidemiologic data of ALS in the north-east Tuscany and compare the results with those of similar surveys.

Methods: Data from ALS cases diagnosed in Florence and Prato Hospitals were prospectively collected from 1st June 2018 to 31st May 2021.

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Article Synopsis
  • - The study aimed to assess the risks and safety of SARS-CoV-2 vaccination for patients with chronic inflammatory neuropathies, particularly looking at relapse rates before and after vaccination.
  • - Involved 336 patients, with 91% vaccinated; 5% experienced mild relapses post-vaccination, while no relapses occurred in unvaccinated patients, indicating a relative risk increase for those who did receive the vaccine.
  • - Overall, the vaccination didn’t strongly correlate with an increased relapse risk, although CIDP patients showed a slightly higher risk compared to the three months before getting vaccinated, with mild side effects being the main safety concerns.
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Article Synopsis
  • Advances in gene sequencing have highlighted the diverse clinical forms of RYR1-related myopathy (RYR1-RM), making diagnosis challenging.
  • Researchers developed a novel unsupervised cluster analysis method to better understand RYR1-RM by analyzing genetic, morphological, and clinical data from 600 patients, specifically focusing on 73 with genetic variants.
  • The analysis categorized 64 patients into four distinct clusters based on their clinical and morphological traits, revealing that many had mild or no symptoms and improving the understanding of genotype-phenotype correlations.
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