9 results match your criteria: "Pediatric and Rheumatology Clinic[Affiliation]"

Article Synopsis
  • The study evaluates the safety, tolerability, and effectiveness of tofacitinib in children and adolescents with juvenile idiopathic arthritis (JIA) in a long-term extension (LTE) study.
  • Out of 225 patients treated with tofacitinib, a high percentage experienced adverse events (AEs), although serious AEs were relatively low, with a focus on infection rates and disease activity.
  • Results showed significant improvement in disease activity scores over time, with a notable increase in patients achieving inactive disease status after 48 months of treatment.
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Telemedicine has entered the daily lives of doctors, although the digital skills of healthcare professionals still remain a goal to be achieved. For the purpose of a large-scale development of telemedicine, it is necessary to create trust in the services it can offer and to favor their acceptance by healthcare professionals and patients. In this context, information for the patient regarding the use of telemedicine, the benefits that can be derived from it, and the training of healthcare professionals and patients for the use of new technologies are fundamental aspects.

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Telemedicine is considered an excellent tool to support the daily and traditional practice of the health profession, especially when referring to the care and management of chronic patients. In a panorama in which chronic pathologies with childhood onset are constantly increasing and the improvement of treatments has allowed survival for them into adulthood, telemedicine and remote assistance are today considered effective and convenient solutions both for the chronic patient, who thus receives personalized and timely assistance, and for the doctors, who reduce the need for direct intervention, hospitalizations and consequent management costs. This Consensus document, written by the main Italian Scientific Societies involved in the use of telemedicine in pediatrics, has the objectives to propose an organizational model based on the relationships between the actors who participate in the provision of a telemedicine service aimed at minors with chronic pathologies, identifying specific project links between the areas of telemedicine in the developmental age from the first 1000 days of life to the age adult.

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Technological innovation can contribute to a reorganization of healthcare, particularly by supporting the shift in the focus of care from the hospital to the territory, through innovative citizen-centered models, and facilitating access to services in the territory. Health and social care delivery modalities, enabled by telemedicine, are crucial in this regard. The objective of this Consensus document, written by the main Italian Scientific Societies involved in the use of telemedicine in pediatrics, is to define a standard for its use at the territorial level in various declinations in the pediatric field; this paper also identifies priority areas for its application and the types of services that most require intervention and investment.

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Cell-free extrachromosomal circular DNA (eccDNA) as a distinct topological form from linear DNA has recently gained increasing research interest, with possible clinical applications as a class of biomarkers. In this study, we aimed to explore the relationship between nucleases and eccDNA characteristics in plasma. By using knockout mouse models with deficiencies in deoxyribonuclease 1 (DNASE1) or deoxyribonuclease 1 like 3 (DNASE1L3), we found that cell-free eccDNA in Dnase1l3-/- mice exhibited larger size distributions than that in wild-type mice.

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Article Synopsis
  • The study aimed to assess the impact of tocilizumab on health-related quality of life (HRQoL) and disability in children with systemic juvenile idiopathic arthritis (JIA) and polyarticular JIA.
  • Secondary analyses were performed on data from two clinical trials, measuring outcomes like disability, HRQoL, pain, and well-being at various time points during treatment.
  • Results showed significant improvements in disability, well-being, and pain for both groups treated with tocilizumab, indicating a positive effect on overall quality of life over time.
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Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome.

J Allergy Clin Immunol Pract

October 2020

University Department of Pediatrics, Unit of Immune and Infectious Diseases, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy; Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.

Background: Patients with 22q11.2 deletion syndrome (22q11.2DS) may develop severe thrombocytopenic purpura and hemolytic anemia.

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Secondary, AA, Amyloidosis.

Rheum Dis Clin North Am

November 2018

National Amyloidosis Centre, Royal Free Campus, University College Medical School, Rowland Hill Street, London NW3 2PF, UK.

Secondary, AA, amyloidosis is a rare systemic complication that can develop in any long-term inflammatory disorder, and is characterized by the extracellular deposition of fibrils derived from serum amyloid A (SAA) protein. SAA is an acute-phase reactant synthetized largely by hepatocytes under the transcriptional regulation of proinflammatory cytokines. The kidney is the major involved organ with proteinuria as first clinical manifestation; renal biopsy is the commonest diagnostic investigation.

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Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Cell

February 2018

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris 75015, France; Paris Descartes University, Imagine Institute, Paris 75015, France; Howard Hughes Medical Institute, New York, NY 10065, USA; Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, Paris 75015, France.

Viruses that are typically benign sometimes invade the brainstem in otherwise healthy children. We report bi-allelic DBR1 mutations in unrelated patients from different ethnicities, each of whom had brainstem infection due to herpes simplex virus 1 (HSV1), influenza virus, or norovirus. DBR1 encodes the only known RNA lariat debranching enzyme.

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