387 results match your criteria: "Ricardo Gutiérrez Children's Hospital.[Affiliation]"

Epstein Barr Virus (EBV) Latent Membrane Protein 1 (LMP-1) Regulates Functional Markers in Intermediate and Non-Classical Monocytes.

Cancers (Basel)

December 2024

Multidisciplinary Institute for Investigation in Pediatric Pathologies (IMIPP), CONICET-GCBA, Pathology Division, Ricardo Gutiérrez Children's Hospital, Buenos Aires C1425EFD, Argentina.

: The Epstein-Barr virus (EBV) infects more than 90 percent of the human population. In pediatric patients, the innate immune response against EBV primary infection plays a key role. Monocytes and macrophages can have distinct functions depending on the microenvironment surrounding them.

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Novel allelic variants of bla carried on IncN and IncC plasmids isolated from clinical cases in Argentina. In vivo emergence of bla.

J Glob Antimicrob Resist

December 2024

Servicio Antimicrobianos, INEI-ANLIS ''Dr. Carlos G. Malbrán''. National and Regional Reference Laboratory for Antimicrobial Resistance (NRRLAR). Buenos Aires, Argentina; Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET). Electronic address:

Background: The OXA-48-like enzymes are members of the class D β-lactamases, primarily detected in Enterobacterales, with the capacity to hydrolyze carbapenems. The allelic variant bla, which has low hydrolytic activity towards carbapenemes, was detected in Argentina in 2011 and spread successfully since then, giving sporadic origin to novel local variants.

Aim: To study the phenotypic profile and the dissemination strategies of two novel OXA enzymes, bla and bla, harbored in Escherichia coli M17224 and Klebsiella pneumoniae M21014, isolated from two pediatric patients.

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Background: A MenABCWY vaccine containing 4CMenB and MenACWY-CRM vaccine components has been developed to protect against the five meningococcal serogroups that cause most invasive disease cases.

Methods: In this phase 3 study (NCT04707391), healthy participants aged 15-25 years, who had received MenACWY vaccination ≥4 years previously, were randomized (1:1) to receive two MenABCWY doses six months apart or one MenACWY-CRM dose. Primary objectives were to demonstrate the non-inferiority of MenABCWY 1 month post-vaccination versus MenACWY-CRM, with a lower limit of 2-sided 95% confidence interval above -10% for group differences in 4-fold rise in human serum bactericidal antibody (hSBA) titers against serogroups ACWY, and to evaluate reactogenicity and safety.

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Objective: Management of Differences of Sex Development (DSD) is complex and in resource limited settings the psychosexual and psychosocial aspects of DSD care have received limited attention. This review aims to explore recent literature on psychosocial care of DSD in low and upper middle-income countries (L/UMIC).

Materials And Methods: Scientific databases were searched and papers on management of DSD were reviewed according to predefined inclusion criteria.

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Tuberculosis (TB) is a major global health threat and demands improved diagnostic and treatment monitoring methods. Conventional diagnostics, such as sputum smear microscopy and culture, are limited by slow results and low sensitivity, particularly in certain patient groups. Recent advances in biomarker research offer promising solutions in three key areas: risk of disease, diagnosis of active disease and monitoring of treatment response.

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Artificial intelligence in tuberculosis: a new ally in disease control.

Breathe (Sheff)

October 2024

Helmholtz Zentrum München, German Research Center for Environmental Health, Institute of Computational Biology, Neuherberg, Munich, Germany.

The challenges to effective tuberculosis (TB) disease control are considerable, and the current global targets for reductions in disease burden seem unattainable. The combination of complex pathophysiology and technical limitations results in difficulties in achieving consistent, reliable diagnoses, and long treatment regimens imply serious physiological and socioeconomic consequences for patients. Artificial intelligence (AI) applications in healthcare have significantly improved patient care regarding diagnostics, treatment and basic research.

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Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4 IL-9-expressing cells.

J Allergy Clin Immunol

November 2024

Garvan Institute of Medical Research, Darlinghurst, Australia; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales (UNSW), Sydney, Australia. Electronic address:

Background: CD4 T cells play essential roles in adaptive immunity. Distinct CD4 T-cell subsets-T1, T2, T17, T22, T follicular helper, and regulatory T cells-have been identified, and their contributions to host defense and immune regulation are increasingly well defined. IL-9-producing T9 cells were first described in 2008 and appear to play both protective and pathogenic roles in human immunity.

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Burden of Lassa fever disease in pregnant women and children and options for prevention.

Vaccine

January 2025

Departments of Pediatrics and Molecular Virology and Microbiology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

Article Synopsis
  • * In children, Lassa fever presents symptoms similar to adults, with high case fatality rates (6-63%), particularly concerning in neonates (66.7%-75%) and significant risks such as bleeding and altered mental status.
  • * Developing a safe and effective vaccine is crucial, especially since current trials do not adequately include pregnant/breastfeeding women and young children; targeted strategies for diagnosis, management, and prevention in these high
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Article Synopsis
  • ARID1A and ARID1B duplications are linked to Coffin-Siris syndrome, but ARID1B duplications have not been previously associated with a specific clinical phenotype until now.
  • A study analyzed 16 cases of ARID1A and 13 cases of ARID1B duplications, revealing that ARID1A duplications resulted in more severe symptoms, including intellectual disabilities and growth delays, while both groups displayed similar features.
  • The research identified unique DNA methylation patterns in ARID1A duplication patients, which differ from those with loss-of-function variants, suggesting the presence of a distinct clinical phenotype for both ARID1A and ARID1B duplications, indicating a new type of
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Cultural Perspectives on the Efficacy and Adoption of the Crohn's Disease Exclusion Diet across Diverse Ethnicities: A Case-Based Overview.

Nutrients

September 2024

Tytgat Institute for Liver and Intestinal Research, Amsterdam Gastroenterology Endocrinology and Metabolism, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.

Article Synopsis
  • - The Crohn's Disease Exclusion Diet (CDED) effectively induces remission in mild-to-moderate Crohn's disease patients and has gained recognition in recent ESPEN guidelines, although it faces cultural implementation challenges.
  • - This case-based study compiles experiences from healthcare providers across six countries to address these challenges and find solutions, particularly focusing on how dietitians can adapt the CDED to different cultural contexts.
  • - The study emphasizes the importance of customizing dietary plans and providing personalized counseling to ensure effective CDED implementation, contributing to the overall understanding and practical application of the diet in various cultures.
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Article Synopsis
  • This study examined three families with WS using whole-exome sequencing (WES) to identify genetic variations, revealing one pathogenic single nucleotide variant (SNV) and two new copy number variants (CNVs) related to WS types.
  • The findings stress the importance of using multiple genetic testing methods for accurate diagnoses, which are essential for effective patient management and personalized genetic counseling.
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Article Synopsis
  • The study aimed to investigate the epidemiology and outcomes of multisystem inflammatory syndrome in children (MIS-C) across 16 Latin American countries from August 2020 to June 2022.
  • Out of 1239 children with MIS-C, the majority were previously healthy, with common symptoms including abdominal pain and conjunctival injection, and nearly half required intensive care.
  • The overall death rate was 4.88%, notably higher for those not initially diagnosed with MIS-C, emphasizing the need for improved awareness and early detection of the syndrome.
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Background: It is unclear whether targeted monitoring of acute adrenal insufficiency (AI) related adverse events (AE) such as sick day episodes (SDEs) and hospitalization rate in congenital adrenal hyperplasia (CAH) is associated with a change in the occurrence of these events.

Aim: Study temporal trends of AI related AE in the I-CAH Registry.

Methods: In 2022, data on the occurrence of AI-related AE in children aged <18 years with 21-hydroxylase deficiency CAH were compared to data collected in 2019.

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Article Synopsis
  • Bartonella henselae is the bacteria behind cat scratch disease (CSD), which usually causes swollen lymph nodes but can sometimes lead to serious complications; this study aimed to analyze differences in clinical features between systemic and localized cases in children.
  • The study reviewed medical records from a pediatric hospital in Buenos Aires, identifying 197 CSD patients, predominantly aged 8 years, with common symptoms being fever and lymphadenopathy; systemic involvement occurred in 34.5% of cases, often presenting as abscesses in organs like the spleen and liver.
  • Findings indicated that patients with systemic diseases exhibited higher rates of fever and elevated C-reactive protein levels; nearly all patients received antibiotic
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The digitisation of health care is offering the promise of transforming the management of paediatric sepsis, which is a major source of morbidity and mortality in children worldwide. Digital technology is already making an impact in paediatric sepsis, but is almost exclusively benefiting patients in high-resource health-care settings. However, digital tools can be highly scalable and cost-effective, and-with the right planning-have the potential to reduce global health disparities.

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Background: After introducing IL-1/IL-6 inhibitors, some patients with Still and Still-like disease developed unusual, often fatal, pulmonary disease. This complication was associated with scoring as DReSS (drug reaction with eosinophilia and systemic symptoms) implicating these inhibitors, although DReSS can be difficult to recognize in the setting of systemic inflammatory disease.

Objective: To facilitate recognition of IL-1/IL-6 inhibitor-DReSS in systemic inflammatory illnesses (Still/Still-like) by looking at timing and reaction-associated features.

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Perspectives of cerebral palsy experts on access to health care in Europe.

Eur J Paediatr Neurol

September 2024

Childhood Disability Registry in Haute-Garonne, University Hospital, Toulouse, France; CERPOP, UMR1295 Toulouse University, Inserm, Paul Sabatier University, Toulouse, France; Clinical Epidemiology Unit, University Hospital, Toulouse, France.

Aim: To explore the perspectives of cerebral palsy (CP) experts on access to healthcare and an analysis of socioeconomic and environmental determinants impacting young individuals with CP in Europe.

Method: Cross-sectional survey designed by a convenience multi-disciplinary panel of invited experts and completed by clinicians, researchers and opinions leaders in the field of CP.

Results: Fifty-eight experts (response rate 85 %) from 39 regions in 26 European countries completed the survey.

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Biliary atresia.

Nat Rev Dis Primers

July 2024

Department of Paediatric Surgery, King's College Hospital, London, UK.

Article Synopsis
  • - Biliary atresia (BA) is a serious liver condition affecting 1:5,000 to 1:20,000 newborns, mostly in Asia, characterized by damage to the biliary system leading to cholestasis, with its causes not fully understood but possibly linked to ciliary dysfunction and oxidative stress.
  • - Timely surgical intervention (Kasai portoenterostomy) can help restore bile flow, benefiting about 50-75% of patients, but many still face severe complications like cholangitis and liver failure, with more than half needing transplantation by age 18.
  • - Improved early diagnosis and coordinated care, along with ongoing research into disease mechanisms and therapies targeting the immune response or oxidative stress
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Concepts for the Development of Person-Centered, Digitally Enabled, Artificial Intelligence-Assisted ARIA Care Pathways (ARIA 2024).

J Allergy Clin Immunol Pract

October 2024

University Clinic of Respiratory and Allergic Diseases, Pulmonary & Allergy Department, Golnik, Slovenia; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.

Article Synopsis
  • - The traditional healthcare approach often overlooks patients' personal experiences and strengths, focusing mainly on disease treatment. Person-centered care aims to align medical decisions with individual values and preferences, particularly for those with chronic conditions.
  • - This paper seeks to enhance care for rhinitis and asthma by developing digital care pathways and incorporating real-world evidence to create a more patient-centered approach.
  • - Key components of the review include advancements in mHealth, the integration of artificial intelligence, a novel classification system for airway diseases, and proposals for the ARIA 2024 guidelines, all targeting a sustainable and applicable healthcare model.
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Article Synopsis
  • Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects ciliary function, leading to airway clearance issues and sometimes organ positioning defects (laterality defects), with a study conducted across 19 countries to analyze gene defects and their clinical implications.
  • The study involved 1236 individuals with a variety of pathogenic DNA variants and found significant geographical differences in PCD genotypes, with varying rates of laterality defects and distinct genetic characteristics linked to different countries.
  • Results revealed that individuals with PCD often have lower lung function (measured by forced expiratory volume) and that the presence of certain genetic variants can correlate with more severe clinical outcomes, highlighting the importance of genetic understanding in diagnosing
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Editorial: Precision medicine in viral hepatitis: progress and prospects towards elimination.

Front Cell Infect Microbiol

March 2024

Multidisciplinary Institute for Investigation in Pediatric Pathologies (IMIPP), CONICET-GCBA, Laboratory of Molecular Biology, Pathology Division, Ricardo Gutiérrez Children's Hospital, Buenos Aires, Argentina.

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Bacterial osteomyelitis, an inflammatory response in the bone caused by microorganisms, typically affects the metaphysis in the skeletally immature. Bacterial osteomyelitis possesses a significant diagnostic challenge in pediatric patients due to its nonspecific clinical presentation. Because the metaphysis is the primary focus of infection in skeletally immature patients, understanding the normal physiologic, maturation process of bones throughout childhood allows to understand the pathophysiology of osteomyelitis.

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Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism.

J Clin Endocrinol Metab

December 2024

Departments of Medicine (M.F.L., S.B.S.), Pediatrics (J.N.H., Y.-M.C.), and Genetics (J.N.H.), Harvard Medical School, Boston, MA 02115, USA.

Context: Constitutional delay of puberty (CDP) is highly heritable, but the genetic basis for CDP is largely unknown. Idiopathic hypogonadotropic hypogonadism (IHH) can be caused by rare genetic variants, but in about half of cases, no rare-variant cause is found.

Objective: To determine whether common genetic variants that influence pubertal timing contribute to CDP and IHH.

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Article Synopsis
  • Multisystem inflammatory syndrome in children (MIS-C) related to COVID-19 shows varied severity, with a lower mortality rate in wealthier countries, highlighting differences in outcomes across regions.
  • In a study of 1,239 children across 16 Latin American countries, the majority were previously healthy, but nearly half required admission to the pediatric intensive care unit (PICU), where they experienced more severe symptoms like myocardial dysfunction.
  • Key risk factors for PICU admission included being over six years old, experiencing shock or seizures, having low platelet counts, elevated inflammatory markers, and abnormalities on chest X-rays, with an overall mortality rate of 4.8%, which is notably higher than in high-income countries.
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Presence of Epstein-Barr virus (EBV) antigens detected by sensitive methods has no influence on local immune environment in diffuse large B cell lymphoma.

Cancer Immunol Immunother

January 2024

Molecular Biology Laboratory, Pathology Division, Multidisciplinary Institute for Investigation in Pediatric Pathologies (IMIPP), CONICET-GCBA, Ricardo Gutierrez Children's Hospital, Buenos Aires, Argentina.

EBV+ diffuse large B cell lymphoma (DLBCL) not otherwise specified (NOS) is a new entity confirmed by the World Health Organization (WHO) in 2017. In this new entity, the virus may contribute to a tolerogenic microenvironment. Traces of the virus have been described in DLBCL with more sensitive methods, in cases that were originally diagnosed as negative.

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