Down syndrome (DS) is the most common genetic cause of intellectual disability worldwide. The purpose of this analysis was to determine the internal consistency reliability of eight language versions of the Family Management Measure (FaMM) and compare family management of DS across cultures. A total of 2,740 parents of individuals with DS from 11 countries completed the FaMM.
View Article and Find Full Text PDFYellow fever virus (YFV) is a mosquito-borne member of the genus flavivirus, including other important human-pathogenic viruses, such as dengue, Japanese encephalitis, and Zika. Herein, we report identifying 129 YFV Class II epitopes in donors vaccinated with the live attenuated YFV vaccine (YFV-17D). A total of 1156 peptides predicted to bind 17 different common HLA-DRB1 allelic variants were tested using IFNγ ELISPOT assays in vitro re-stimulated peripheral blood mononuclear cells from twenty-six vaccinees.
View Article and Find Full Text PDFChimeric Antigen Receptor-T cells (CAR-T) are considered novel biological agents, designed to selectively attack cancer cells expressing specific antigens, with demonstrated clinical activity in patients affected with relapsed/refractory B-cell malignancies. In consideration of their complexity, the use of CAR-T requires dedicated clinical setting and health care practitioners with expertise in the selection, treatment, and management of toxicities and side effects. Such issue appears particularly important when contextualized in the rapid progress of CAR-T cell treatment, translating into a constant need of updating and evolution.
View Article and Find Full Text PDFThe identification of efficient markers of disease progression and response to possibly effective treatments is a key priority for slowly progressive, rare and neurodegenerative diseases, such as Friedreich's ataxia. Various imaging modalities have documented specific abnormalities in Friedreich's ataxia that could be tracked to provide useful indicators of efficacy in clinical trials. Advanced MRI imaging (diffusion tensor imaging, DTI; functional MRI, fMRI; and resting-state fMRI, rs-fMRI) and retinal imaging (optical coherence tomography, OCT) were tested longitudinally in a small group of Friedreich's ataxia patients participating in an open-label clinical trial testing the safety and the efficacy of 6-month treatment with interferon gamma.
View Article and Find Full Text PDFNeurosci Lett
November 2020
Zika virus (ZIKV) is a mosquito-borne Flavivirus structurally and antigenically related to Dengue virus (DENV). Zika virus has been associated with congenital anomalies and most ZIKV outbreaks have occurred in endemic areas of DENV. The present study investigated the effects of prior DENV serotype 1 (DENV1) immunity in immunocompetent female Swiss mice on gestational ZIKV infection in offspring.
View Article and Find Full Text PDFThe possibility of being invisible has long fascinated people. Recent research showed that multisensory illusions can induce experiences of bodily invisibility, allowing the psychological consequences of invisibility to be explored. Here, we demonstrate an illusion of embodying an invisible face.
View Article and Find Full Text PDFThe progressive consumption growth of non-steroidal anti-inflammatory drugs (NSAIDs) has progressively raised the attention toward the gastrointestinal, renal, and cardiovascular toxicity. Increased risk of cardiovascular diseases was strictly associated with the usage of COX-2 selective NSAIDs. Other studies allowed to clarify that the cardiovascular risk is not limited to COX-2 selective but also extended to non-selective NSAIDs, such as Diclofenac and Ketoprofen.
View Article and Find Full Text PDFObjectives: Bone resorption associated to chronic diseases, such as arthritis and periodontitis, results from exacerbated immuno-inflammatory host response that leads to tissue breakdown. The significance of opioid pathways as endogenous modulators of inflammatory events has already been described. Thus, the aim of this work is to determine whether some of the main three opioid receptors are endogenously activated to prevent bone loss during experimentally-induced alveolar bone resorption.
View Article and Find Full Text PDFNeurodegenerative disease etiology is still unclear, but different contributing factors, such as lifestyle and genetic factors are involved. Altered components of the gut could play a key role in the gut-brain axis, which is a bidirectional system between the central nervous system and the enteric nervous system. Variations in the composition of the gut microbiota and its function between healthy people and patients have been reported for a variety of human disorders comprising metabolic, autoimmune, cancer, and, notably, neurodegenerative disorders.
View Article and Find Full Text PDFStem cells offer the basis for the promotion of robust new therapeutic approaches for a variety of human disorders. There are still many limitations to be overcome before clinical therapeutic application, including a better understanding of the mechanism by which stem cell therapies may lead to enhanced recovery. In vitro investigations are necessary to dissect the mechanisms involved and to support the potential development in stem cell-based therapies.
View Article and Find Full Text PDFAim: The aim of the present study is twofold: to evaluate cyclic fatigue resistance differences of two different nickel-titanium rotary instruments, brand new and after an instrumentation of single root extracted teeth.
Materials And Methods: Twenty new S One 20.06 were randomly divided into two groups.
Nuclear pore complexes (NPC) are the central mediators of nucleocytoplasmic transport. Increasing evidence shows that many cancer cells have increased numbers of NPCs and become addicted to the nuclear transport machinery. How reducing NPC numbers affects the physiology of normal and cancer cells and whether it could be exploited for cancer therapies has not been investigated.
View Article and Find Full Text PDFPatients at risk of developing respiratory dysfunctions, such as patients with severe forms of muscular dystrophy, need a careful respiratory assessment, and periodic follow-up visits to monitor the progression of the disease. In these patients, at-home continuous monitoring of respiratory activity patterns could provide additional understanding about disease progression, allowing prompt clinical intervention. The core aim of the present study is thus to investigate the feasibility of using an innovative wearable device for respiratory monitoring, particularly breathing frequency variation assessment, in patients with muscular dystrophy.
View Article and Find Full Text PDFFabry is an X-linked disorder of glycosphingolipid metabolism that is caused by variants of the GLA gene that codes for α-galactosidase A, leading to lysosomal accumulation of globotriaosylceramide in many cell types. As a result, affected patients manifest with an increased risk of developing ischemic stroke, peripheral neuropathy, cardiac dysfunction, and chronic kidney disease. The protective effects of enzyme replacement therapy (ERT), the milestone in Fabry disease treatment, against globotriaosylceramide (GL-3) accumulation and Fabry disease progression are well known.
View Article and Find Full Text PDFIntroduction: Since February 2020, the outbreak of COVID-19 in Italy has forced the health care system to undergo profound rearrangements in its services and facilities, especially in the worst-hit areas in Northern Italy. In this setting, inpatient and outpatient services had to rethink and reorganize their activities to meet the needs of patients during the "lockdown". The Italian Association of Myology developed a survey to estimate the impact of these changes on patients affected by neuromuscular disorders and on specialized neuromuscular centers during the acute phase of COVID-19 pandemic.
View Article and Find Full Text PDFBackground: Marginal bone loss (MBL) represents an important indicator of peri-implant health and the measure of its level is considered a determining factor in the evaluation of the quality of survival. Aim of this study is to compare radiographic changes in the fractal and mesial/distal vertical dimensions of peri-implant trabecular bone of dental implants with a laser-ablated micron-scale modication (LAM) of collar surface after a 5-year follow-up period.
Materials And Methods: Thirty-four implants with LAM of collar surface (test group = TG) and 31 implants without LAM of collar surface (control group = CG) were placed in 45 non-smoking, periodontally healthy patients.
Cellular metabolism regulates immune cell activation, differentiation and effector functions, but current metabolic approaches lack single-cell resolution and simultaneous characterization of cellular phenotype. In this study, we developed an approach to characterize the metabolic regulome of single cells together with their phenotypic identity. The method, termed single-cell metabolic regulome profiling (scMEP), quantifies proteins that regulate metabolic pathway activity using high-dimensional antibody-based technologies.
View Article and Find Full Text PDFNeurodegenerative diseases are debilitating and currently incurable conditions causing severe cognitive and motor impairments, defined by the progressive deterioration of neuronal structure and function, eventually causing neuronal loss. Understand the molecular and cellular mechanisms underlying these disorders are essential to develop therapeutic approaches. MicroRNAs (miRNAs) are short non-coding RNAs implicated in gene expression regulation at the post-transcriptional level.
View Article and Find Full Text PDFBackground: Despite the free-of-charge offer of influenza vaccines to at-risk subgroups, vaccine coverage remains low and far from the target, probably due to the false myths and misperceptions. We aimed to explore the healthcare students' vaccination behavior and beliefs to find any association between vaccination uptake during the last 5 years and future vaccination acceptance.
Study Design: A multicentre cross-sectional study.
Objective: To characterize and compare the attitudes of nurses working in primary healthcare on the importance of involving the families of people with mental disorders in nursing care.
Method: A cross-sectional study carried out in the cities of Porto (Portugal) and São Paulo (Brazil). Data was collected in 2018 using the "The Importance of Families in Nursing Care - Nurses' Attitudes" scale.
Several months into the impact of the global COVID-19 pandemic, the authors use the framework of "radical uncertainty" and specific regional health care data to understand current and future health and economic impacts. Four key areas of discussion included are: (1) How did structural health care inequality manifest itself during the closure of all elective surgeries and visits?; (2) How can we really calculate the so-called untold burden that resulted from the closure, with a special emphasis on primary care?; (3) The Pennsylvania experience - using observations from the population of one major delivery ecosystem (Jefferson Health), a major accountable care organization (Delaware Valley ACO), and statewide data from Pennsylvania; and (4) What should be the priorities and focus of the delivery system of the future given the dramatic financial and clinical disruption of COVID-19?
View Article and Find Full Text PDFObjective: To determine new body mass index (BMI) reference values to classify the nutritional status of children aged six to ten years old from the city of Montes Claros (state of Minas Gerais), Southeast Brazil.
Methods: The sample consisted of 3,863 individuals from both genders. Body mass and height were measured to determine the BMI.
Background: In Italy vaccine hesitancy worsened after a failure to vaccinate episode that took place in Friuli Venezia-Giulia Region until early 2017 which undermined herd immunity by leaving unprotected more than 5,444 children.
Methods: Between May and June 2017, 2,557 parents were surveyed at the local vaccination clinic where they were invited within the subsequent extraordinary vaccination campaign. The aim of the survey was to evaluate whether the multi-channel extraordinary vaccination campaign had reached the target population and to know parental beliefs and trusted sources of information after the failure to vaccinate event.
Background: Malnutrition in Intensive Care Unit patients has been associated with worse clinical outcomes such as mortality and length of stay (LOS) in Intensive Care Unit (ICU), and nutritional status of Intensive Care Unit patients in particular seemed to be a significant predictor of mortality. Promptness of clinical nutrition administration is a key of nutritional support whenever volitional intake is unfeasible. Early enteral nutrition is associated with better clinical outcomes (reduced complications, LOS in ICU and in Hospital).
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