198 results match your criteria: "Institute for Research and Health Care[Affiliation]"

Anifrolumab in Monogenic Lupus caused by TREX1 Mutation.

J Clin Immunol

December 2024

Division of Rheumatology, and the Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Institute for Research and Health Care (IRCCS), Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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In-hospital bioimpedance-derived total body water predicts short-term cardiovascular mortality and re-hospitalizations in acute decompensated heart failure patients.

Clin Res Cardiol

November 2024

Department of Cardiology, Angiology and Intensive Care Medicine, Deutsches Herzzentrum Der Charité, Campus Virchow-Klinikum, Augustenburgerplatz 1, 13353, Berlin, Germany.

Background: Hospital re-admissions in heart failure (HF) patients are mostly caused by an acute exacerbation of their chronic congestion. Bioimpedance analysis (BIA) has emerged as a promising non-invasive method to assess the volume status in HF. However, its correlation with clinically assessed volume status and its prognostic value in the acute intra-hospital setting remains uncertain.

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Visualization of membrane localization and the functional state of CBR pools using matched agonist and inverse agonist probe pairs.

Chem Sci

October 2024

Leibniz-Forschungsinstitut für Molekulare Pharmakologie FMP Campus Berlin-Buch 13125 Berlin Germany

The diversity of physiological roles of the endocannabinoid system has turned it into an attractive yet elusive therapeutic target. However, chemical probes with various functionalities could pave the way for a better understanding of the endocannabinoid system at the cellular level. Notably, inverse agonists of CBR - a key receptor of the endocannabinoid system - lagged behind despite the evidence regarding the therapeutic potential of its antagonism.

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Article Synopsis
  • The study investigated the effectiveness and safety of rituximab for treating childhood steroid-resistant nephrotic syndrome (SRNS) across 28 pediatric nephrology centers globally.
  • Researchers found that children with a longer history of calcineurin inhibitors (CNIs) treatment before rituximab had lower remission rates compared to those with shorter treatment periods.
  • Overall, rituximab showed enhanced remission rates in a portion of SRNS patients, was mostly safe, and achieving complete remission was linked to better kidney survival outcomes.
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Persons with disorders of consciousness (DoCs) may perceive pain without being able to communicate their discomfort. The Nociception Coma Scale (NCS) and its revised form (NCS-R) have been proposed to assess nociception in persons with DoCs. The main aim of this international multicenter study was to confirm (or not) our preliminary results and compare the NCS-R scores of standard stimulus (NCS-R-SS) to scores of personalized painful stimuli (NCS-R-PS).

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Background: Multiple Sclerosis (MS) is the most prevalent autoimmune neurological condition in the world, leading to a wide variety of symptoms, including balance disorders.

Objective: To evaluate the angular vestibulo-ocular reflex (aVOR) of all six semicircular canals (SCCs) through Head Impulse (HIMP) and Suppression HIMP (SHIMP) paradigms and any correlations with clinical balance scales.

Methods: All participants were assessed using the Expanded Disability Status Scale (EDSS), Berg Balance Scale (BBS), and Mini-BESTest (MBT).

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Background: Artificial intelligence (AI) has become a popular tool for clinical and research use in the medical field. The aim of this study was to evaluate the accuracy and reliability of a generative AI tool on pediatric familial Mediterranean fever (FMF).

Methods: Fifteen questions repeated thrice on pediatric FMF were prompted to the popular generative AI tool Microsoft Copilot with Chat-GPT 4.

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Lupus Nephritis Patterns and Response to Type I Interferon in Patients With DNASE1L3 Variants: Report of Three Cases.

Am J Kidney Dis

December 2024

Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Firenze, Italy; Department of Biomedical, Experimental and Clinical Sciences "Mario Serio", University of Firenze, Firenze, Italy. Electronic address:

Article Synopsis
  • * The study focuses on three children with monogenic systemic lupus erythematosus (SLE) due to DNASE1L3 variants who experienced severe kidney issues, showing different types of glomerulonephritis.
  • * Findings revealed a connection between DNASE1L3-related kidney issues and interferon signaling, suggesting potential benefits of targeted interferon therapies to improve patient outcomes.
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B-cell repertoire and functions in idiopathic nephrotic syndrome: what to learn from single-cell RNA sequencing?

Kidney Int

October 2024

Inserm U1163, Institut Imagine, Université Paris Cité, Paris, France; Néphrologie Pédiatrique, Centre de Référence du Syndrome Néphrotique Idiopathique de l'Enfant et l'Adulte, Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris (APHP), Paris, France.

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CDKL5 deficiency disorder (CDD) is a complex clinical condition resulting from non-functional or absent CDKL5 protein, a serine-threonine kinase pivotal for neural maturation and synaptogenesis. The disorder manifests primarily as developmental epileptic encephalopathy, with associated neurological phenotypes, such as hypotonia, movement disorders, visual impairment, and gastrointestinal issues. Its prevalence is estimated at 1 in 40,000-60,000 live births, and it is more prevalent in females due to the lethality of germline mutations in males during fetal development.

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Resolution of inflammation is the cellular and molecular process that protects from widespread and uncontrolled inflammation and restores tissue function in the aftermath of acute immune events. This process is orchestrated by specialized pro-resolving mediators (SPM), a class of bioactive lipids able to reduce immune activation and promote removal of tissue debris and apoptotic cells by macrophages. Although SPMs are the lipid class that has been best studied for its role in facilitating the resolution of self-limited inflammation, a number of other lipid signals, including endocannabinoids, also exert protective immunomodulatory effects on immune cells, including macrophages.

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Introduction: The Video Head Impulse Test (vHIT) is a safe and reliable assessment of peripheral vestibular function. Many studies tested its accuracy in clinical settings for differential diagnosis and quantification of the vestibulo-oculomotor reflex (VOR) in various disorders. However, the results of its application after lesions of the CNS are discordant and have never been studied in rehabilitation.

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Neurological disorders such as stroke, Parkinson's disease (PD), and severe traumatic brain injury (sTBI) are leading global causes of disability and mortality. This study aimed to assess the ability to walk of patients with sTBI, stroke, and PD, identifying the differences in dynamic postural stability, symmetry, and smoothness during various dynamic motor tasks. Sixty people with neurological disorders and 20 healthy participants were recruited.

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Introduction: The clinical evolution of steroid-sensitive forms of pediatric idiopathic nephrotic syndrome (INS) is highly heterogeneous following the standard treatment with prednisone. To date, no prognostic marker has been identified to predict the severity of the disease course starting from the first episode.

Methods: In this monocentric prospective cohort study we set up a reproducible and standardized flow cytometry panel using two sample tubes (one for B-cell and one for T-cell subsets) to extensively characterized the lymphocyte repertoire of INS pediatric patients.

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Aims: To date, precision medicine has revolutionized the clinical management of Non-Small Cell Lung Cancer (NSCLC). International societies approved a rapidly improved mandatory testing biomarkers panel for the clinical stratification of NSCLC patients, but harmonized procedures are required to optimize the diagnostic workflow. In this context a knowledge-based database (Biomarkers ATLAS, https://biomarkersatlas.

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A critical view on autoantibodies in lupus nephritis: Concrete knowledge based on evidence.

Autoimmun Rev

May 2024

Division of Nephrology, Dialysis and Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Article Synopsis
  • * Recent research indicates that the connection between anti-dsDNA antibodies and kidney problems is weak, and it showcases a variety of other renal-targeting autoantibodies, including increased attention to the IgG2 isotype, which was previously overlooked.
  • * New "second wave antibodies" have emerged, which play a role in modulating inflammation in the kidneys, suggesting they could be key in refining treatment strategies and monitoring therapeutic responses in LN patients.
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A game of networks: Do different lipids interact to orchestrate inflammatory homeostasis?

Cell Chem Biol

December 2023

European Center for Brain Research/Institute for Research and Health Care (IRCCS) Santa Lucia Foundation, 00143 Rome, Italy; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100 L'Aquila, Italy. Electronic address:

Resolution of inflammation is the physiological process whereby endogenous pro-resolving lipids constrain inflammatory stimuli that would otherwise cause chronic inflammation. In this issue of Cell Chemical Biology, Peltner et al. report that the cannabis component cannabidiol induces production of pro-resolving lipids directly activating 15-lipoxygenase and inhibiting 5-lipoxygenase in human macrophages.

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Background: Multiple Sclerosis (MS) is a chronic inflammatory, demyelinating, degenerative disease of the central nervous system and the second most frequent cause of permanent disability in young adults. One of the most common issues concerns the ability to perform postural and gait tasks while simultaneously completing a cognitive task (namely, dual-task DT).

Aim: Assessing cognitive-motor dual-task training effectiveness in patients with Multiple Sclerosis (PwMS) for dynamic gait quality when walking on straight, curved, and blindfolded paths.

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Update in Lung Cancer Molecular Pathology: Technological Advances and Clinical Practice.

Cancers (Basel)

July 2023

Services Department, Pathology Unit, Fondazione Poliambulanza Hospital Institute, Via Bissolati 57, 25124 Brescia, Italy.

This Special Issue of eleven articles, including six original works and five reviews, demonstrates the modern heterogenous approach to lung cancer by means of various methodologies from international experts from various countries [...

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Background And Purpose: Transcranial direct current stimulation (tDCS) has been shown to improve signs of consciousness in a subset of patients with disorders of consciousness (DoC). However, no multicentre study confirmed its efficacy when applied during rehabilitation. In this randomized controlled double-blind study, the effects of tDCS whilst patients were in rehabilitation were tested at the group level and according to their diagnosis and aetiology to better target DoC patients who might repond to tDCS.

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B-cell depleting anti-CD20 monoclonal antibodies, such as rituximab, have proven efficacy in children with frequently-relapsing/steroid-dependent nephrotic syndrome (FR/SDNS). However, drug-free remission is variable and specific baseline markers predictive of relapse after anti-CD20 treatment are still being defined. To clarify these, we performed a bicentric observational study in a large cohort of 102 children and young adults with FR/SDNS treated with anti-CD20 monoclonal antibodies (rituximab and ofatumumab).

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Perampanel as precision therapy in rare genetic epilepsies.

Epilepsia

April 2023

IRCCS, Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età pediatrica, Bologna, Italy.

Objective: Perampanel, an antiseizure drug with α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antagonist properties, may have a targeted effect in genetic epilepsies with overwhelming glutamate receptor activation. Epilepsies with loss of γ-aminobutyric acid inhibition (e.g.

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