Publications by authors named "Ferrari B"

Introduction: The prevalence of germline pathogenic/likely pathogenic variants (P/LP) in high and moderate penetrance (HMP) genes is approximately 7%-10% among breast cancer (BC) patients. The prevalence and spectrum of BC P/LP variants are affected by several factors. There are limited genetic data from Brazilian patients with BC.

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Life at Robinson Ridge, located in the Windmill Islands region of East Antarctica, is susceptible to a changing climate. At this site, responses of the vegetation communities and moss-beds have been well researched, but corresponding information for microbial counterparts is still lacking. To bridge this knowledge gap, we established baseline data for monitoring the environmental drivers shaping the soil microbial community on the local 'hillslope' scale.

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Background: Glioblastoma is a highly aggressive primary central nervous system tumor characterized by poor outcomes. In case of relapse or progression to adjuvant chemotherapy, there is no univocal preferred regimen for relapsing glioblastoma.

Methods: We conducted a systematic review and Bayesian trial-level network meta-analyses (NMA) to identify the regimens associated with the best outcomes.

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Acquired Aplastic Anemia (AAA) is a rare disease involving primary bone marrow failure with consequent pancytopenia. The addition of the synthetic thrombopoietin-receptor agonist eltrombopag (ELT) to standard immunosuppression for the treatment of AAA has led to improvements in hemopoietic outcomes of AAA. Most of the data on the use of ELT for AAA was based on a maximum of 6 months of therapy.

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Article Synopsis
  • The study explores challenges in lung cancer biomarker testing due to tissue inadequacy and operational issues, implementing a tailored molecular testing approach in Brazil.
  • From 1,272 lung cancer samples analyzed, a significant percentage were ineligible for testing due to insufficient tissue quality or quantity, with specific mutations and alterations being most commonly observed.
  • Results suggest that while non-NGS tests provided some diagnostic information, a substantial portion of patients could only access reduced molecular testing coverage, impacting the detection of actionable cancer drivers.
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Background: Immune-mediated thrombotic thrombocytopenic purpura (iTTP) patients are not responsive to standard rituximab in approximately 10% to 15% of cases, and oral immunosuppressants showed controversial results with significant toxicity. Targeting plasma cells with bortezomib appears promising, but the available evidence is scarce and stems only from isolated reports in the precaplacizumab era.

Objectives: To evaluate the safety and efficacy of bortezomib in rituximab-refractory iTTP patients.

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Introduction: The military employs a wide variety of training paradigms to prepare a ready medical force. Simulation-based training is prominently used in the military for all roles of care to provide the knowledge, skills, and abilities needed to render care from the battlefield to the hospital. The purpose of this scoping review is to synthesize the body of research in military healthcare simulation, highlight trends in the literature, and identify research gaps.

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Article Synopsis
  • Old Wallow is a coastal desert in Antarctica that is largely unexplored, and researchers studied how nutrients from a nearby elephant seal wallow impact the soil communities in this hyper-arid area.
  • The study found that while overall soil microbial communities were similar to other environments, there was a significant presence of unclassified taxa often associated with marine ecosystems.
  • Elevated nutrient levels and specific environmental factors, such as salinity and moisture, were identified as key drivers influencing community composition, indicating that the ecosystem could be sensitive to future environmental changes.
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The human neural retina is a complex tissue with abundant alternative splicing and more than 10% of genetic variants linked to inherited retinal diseases (IRDs) alter splicing. Traditional short-read RNA-sequencing methods have been used for understanding retina-specific splicing but have limitations in detailing transcript isoforms. To address this, we generated a proteogenomic atlas that combines PacBio long-read RNA-sequencing data with mass spectrometry and whole genome sequencing data of three healthy human neural retina samples.

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The genus belongs to the subfamily Naidinae (Naididae); it includes mostly species of small size and is diverse and abundant in surface coarse sediments in streams. The aim of the present study is to initiate an inventory of lineages (=species) of in Switzerland. We used 135 specimens collected at 6 sites in 4 streams of 4 cantons.

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Acellular dermal matrices currently represent a useful reconstructive method in onco-dermatologic surgery. Nevertheless, they have some limitations, especially in terms of costs and outpatient post-operative wound care. While some studies on their cost-to-benefit ratio in breast surgery have already been issued, evidence is currently lacking in onco-dermatological surgery.

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Background: Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a microangiopathy often characterized by acute neurological involvement including ischemic stroke (IS). The characteristics of IS in iTTP remain largely unknown.

Aims: To evaluate the epidemiology, neuroimaging patterns and risk factors of IS in iTTP patients.

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Tire and road wear particles (TRWP) contain complex mixtures of chemicals and release them to the environment, and potential toxic effects of these chemicals still need to be characterized. We used a standardized surrogate for TRWP, cryogenically milled tire tread (CMTT), to isolate and evaluate effects of tire-associated chemicals. We examined organic chemical mixtures extracted and leached from CMTT for the toxicity endpoints genotoxicity, estrogenicity, and inhibition of bacterial luminescence.

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Anorexia nervosa (AN) is an eating disorder (ED) that has seen an increase in its incidence in the last thirty years. Compared to other psychosomatic disorders, ED can be responsible for many major medical complications, moreover, in addition to the various systemic impairments, patients with AN undergo morphological and physiological changes affecting the cerebral cortex. Through immunohistochemical studies on portions of postmortem human brain of people affected by AN and healthy individuals, and western blot studies on leucocytes of young patients and healthy controls, this study investigated the role in the afore-mentioned processes of altered redox state.

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The current standard oncotherapy for glioblastoma is limited by several adverse side effects, leading to a short-term patient survival rate paralleled by a worsening quality of life (QoL). Recently, Complementary and Integrative Medicine's (CIM) innovative approaches have shown positive impacts in terms of better response to treatment, side effect reduction, and QoL improvement. In particular, promising potential in cancer therapy has been found in compounds coming from phyto- and mycotherapy.

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Introduction: Recent developments of noninvasive, high-resolution imaging techniques, such as reflectance confocal microscopy (RCM) and optical coherence tomography (OCT), have enhanced skin cancer detection and precise tumor excision particularly in highly aggressive and poorly defined basal cell carcinomas (BCCs).

Objectives: The aim of this pilot study is to assess the feasibility and reproducibility of a systematic clinical workflow combining noninvasive (RCM-OCT) and invasive fluorescence confocal microscopy (FCM) imaging modalities in pre- and intra-surgical evaluations of the lateral and deep margins of BCC.

Methods: Superficial incisions were made 2 mm beyond the clinical-dermoscopic BCC margins.

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In environmental risk assessment either for registration purposes or for retrospective assessments of monitoring data, the hazard assessment is predominantly based on effect data from ecotoxicity studies. Most regulatory frameworks require studies used for risk assessment to be evaluated for reliability and relevance. Historically, the Klimisch methodology was used in many regulatory procedures where reliability needed to be evaluated.

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Dimethyl fumarate (DMF, Tecfidera) is an oral drug utilized to treat relapsing-remitting multiple sclerosis (MS). DMF treatment reduces disease activity in MS. Gastrointestinal discomfort is a common adverse effect of the treatment with DMF.

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Background: Alfalfa, the most economically important forage legume worldwide, features modest genetic progress due to long selection cycles and the extent of the non-additive genetic variance associated with its autotetraploid genome.

Methods: To improve the efficiency of genomic selection in alfalfa, we explored the effects of genome parametrization (as tetraploid and diploid dosages, plus allele ratios) and SNP marker subsetting (all available SNPs, only genic regions, and only non-genic regions) on genomic regressions, together with various levels of filtering on reading depth and missing rates. We used genotyping by sequencing-generated data and focused on traits of different genetic complexity, i.

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Background: The delayed diagnosis of skin tumors is associated with a worsened prognosis. The impact of the interruption of clinical and surgical health services during the COVID-19 pandemic lockdowns has been documented among many pathologies. The impact of delayed diagnoses on patients with cutaneous squamous cell carcinomas (cSCCs) is poorly defined.

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Overgeneralization and a lack of baseline data for microorganisms in high-latitude environments have restricted the understanding of the microbial response to climate change, which is needed to establish Antarctic conservation frameworks. To bridge this gap, we examined over 17,000 sequence variants of bacteria and microeukarya across the hyperarid Vestfold Hills and Windmill Islands regions of eastern Antarctica. Using an extended gradient forest model, we quantified multispecies response to variations along 79 edaphic gradients to explore the effects of change and wind-driven dispersal on community dynamics under projected warming trends.

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While the positive impact of early palliative care on the quality of life of cancer patients is well established, there is a noticeable research gap in developing countries. This study sought to determine the impact of an outpatient palliative care (OPC) program on the location of death among patients in Brazil. This was a retrospective study including patients with cancer who died between January 2022 and December 2022 in 32 private cancer centers in Brazil.

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Glioblastoma is the most frequent and aggressive brain tumor in adults. This study aims to evaluate the expression and prognostic impact of CD99, a membrane glycoprotein involved in cellular migration and invasion. In a cohort of patients with glioblastoma treated with surgery, radiotherapy and temozolomide, we retrospectively analyzed tumor expression of CD99 by immunohistochemistry (IHC) and by quantitative real-time polymerase chain reaction (qRT-PCR) for both the wild type (CD99wt) and the truncated (CD99sh) isoforms.

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: Hidradenitis suppurativa (HS) is a relapsing-remitting inflammatory disease characterized by the progression of asymptomatic nodules to deep-seated lesions and fistula formation that leads to suppuration and scarring. Optical coherence tomography angiography (OCTA) is a new non-invasive imaging technique that carefully analyzes retinal microvasculature networks with high-resolution imaging. Recent studies have demonstrated that retinal vessel density and retinal perfusion reflect systemic inflammatory responses.

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