1,011 results match your criteria: "Hospital de Niños "Ricardo Gutierrez"[Affiliation]"

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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Background: Invasive meningococcal disease (IMD) is a life-threatening disease, primarily affecting infants and children. Argentina introduced routine meningococcal vaccination in infants and adolescents in 2017, with MenACWY vaccination targeting serogroups A, C, W, and Y (current National Immunization Program [cNIP]). Serogroup B, more prevalent since 2015, became predominant in children.

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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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Biomarkers of endothelial dysfunction and cytokine levels in hypothyroidism: a series of meta-analyses.

Expert Rev Endocrinol Metab

December 2024

Centro de Investigaciones Endocrinológicas "Dr. César Bergadá", Consejo Nacional de Investigaciones Científicas y Técnicas - Fundación de Endocrinología Infantil - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.

Background: Hypothyroidism (HT) is associated with different comorbidities comprising increased arterial stiffness and decreased flow-mediated dilatation. The exact pathological mechanism of endothelial activation and dysfunction (ED) in HT remains unknown. We conducted a systematic review and meta-analyses to provide an overview of the pathogenesis of ED in HT.

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[Monogenic obesity: pathophysiology, diagnosis and treatment].

Medicina (B Aires)

December 2024

Escuela de Medicina de la Pontificia Universidad Católica Argentina, Buenos Aires, Argentina.

Obesity is a disorder of multifactorial origin in which both genetic and environmental factors intervene. Currently, numerous gene variants related to the control of intake and the mechanism of action of leptin in the central nervous system through the melanocortin pathway have been described. The accessibility to molecular studies through next-generation sequencing panels that include dozens of genes related to this condition shows that the incidence is much higher than previously reported.

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Background: Enhanced influenza vaccines are the best option for the elderly. In 2021, Argentina introduced the MF59-adjuvanted inactivated influenza vaccine (aIIV) for individuals aged 65 years. and above, in the national immunization program.

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Background: Hypothyroidism (HT) is associated with numerous well-characterized comorbidities and established biomarkers for subclinical atherosclerosis which may lead to an elevated risk of cardiovascular disease; however, the precise molecular mechanism underlying these pathological features remains elusive. Increased levels of adipokines may have adverse effects on multiple atherosclerotic risk factors in HT. Different studies have evaluated the association between HT and adipokines with conflicting results.

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Chagas disease following infection with Trypanosoma cruzi is a major public health issue, with the disease spreading beyond endemic regions and becoming more global due to the migration of infected individuals. The currently available anti-parasitic drugs, nifurtimox and benznidazole, remain insufficiently evaluated for their efficacy in adult patients. A key challenge is the lack of markers for parasitological cure, which also precludes the development of new treatments.

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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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A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.

Endocrine

November 2024

Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica, Departamento de Microbiología, Inmunología, Biotecnología y Genética/Cátedra de Genética, Buenos Aires, Argentina.

DICER1 syndrome is an autosomal-dominant disorder that results in malignant or benign tumors. A number of distinct pathogenic germline and somatic variants have been identified as causing multinodular goiter (MNG). The purpose of the present study was to identify and characterize the genetic cause underlying the familial form of MNG through a whole-exome sequencing (WES) analysis in an Argentine family with three affected siblings.

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Current smoking is related to severe damage in systemic lupus erythematosus patients.

Lupus

January 2025

Centro de Educación Médica e Investigaciones Clínicas, CEMIC "Norberto Quirno", Buenos Aires, Argentina.

Article Synopsis
  • The study aimed to investigate how smoking exposure is linked to organ damage in patients with systemic lupus erythematosus (SLE) using a specific damage score (SLICC-SDI) in an Argentinian cohort.
  • Out of 623 SLE patients analyzed, 84% were non-smokers, while 16% were current smokers, with 17% showing severe organ damage (SLICC-SDI ≥3).
  • The findings indicated that current smoking, older age, longer disease duration, and the use of cyclophosphamide are significantly associated with severe organ damage in SLE patients.
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The Approach to Patients with Disorders of Sex Development (DSD) in the Era of Precision Medicine: The Careful Use of Terminology.

touchREV Endocrinol

October 2024

Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.

The term "DSD" was coined for "disorders of sex development", referring to conditions where the chromosomal, gonadal and/or genital sex is discordant or ambiguous, to replace terms considered imprecise and stigmatizing. Recently, the term "disorder" has been questioned and the term "differences" has been proposed as not stigmatizing, reflecting that the term DSD should be depathologized. In this opinion article, I discuss the importance of using precise technical terminologies amongst healthcare professionals, in the era of "precision medicine", to avoid misleading diagnoses or classifications while being extremely careful to use sensitive terminologies when interacting with patients and their families.

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Background: Shiga toxin-producing Escherichia coli-associated hemolytic uremic syndrome (STEC-HUS) is a severe condition mainly affecting children. It is one of the leading causes of acute kidney injury in the pediatric population. There is no established therapy for this disease.

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Article Synopsis
  • Aggregatibacter actinomycetemcomitans is a type of bacteria normally found in the mouth that can lead to dental issues and, in rare cases, serious systemic diseases.
  • A case is detailed where a healthy patient developed a severe illness due to this bacteria, which affected their lungs and created a connection to the chest wall (fistula).
  • Diagnosing this infection was particularly challenging because the bacteria are hard to isolate in lab tests, making it tough to identify the exact cause of the patient's condition.
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FSH increases lipid droplet content by regulating the expression of genes related to lipid storage in Rat Sertoli cells.

Mol Cell Endocrinol

January 2025

Centro de Investigaciones Endocrinológicas, "Dr César Bergadá", CONICET-FEI-División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Argentina. Electronic address:

Article Synopsis
  • * The study investigates how follicle-stimulating hormone (FSH) influences lipid storage and fat-related gene expression in SCs, using cultured SCs from 20-day-old rats.
  • * Results showed that FSH increased lipid droplet and triacylglyceride levels in SCs and activated specific genes, suggesting it regulates lipid storage through the cAMP/PKA signaling pathway to meet energy needs.
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Peripheral precocious puberty secondary to severe hypothyroidism.

Arch Argent Pediatr

November 2024

Endocrinology Research Center Dr. César Bergadá, National Scientific Research Council and Techniques - FEI, Endocrinology Division; Hospital de General de Niños Ricardo Gutiérrez, City of Buenos Aires, Argentina.

Van Wyk-Grumbach syndrome is a rare form of severe hypothyroidism. We present a 10.9-year-old girl who consulted for genital bleeding, Tanner stage 2, and clinical manifestations of hypothyroidism.

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Article Synopsis
  • Dengue is a viral infection that can be mild or severe, and this study focused on pediatric cases during an outbreak in Buenos Aires from March to May 2023.
  • A total of 112 patients were evaluated, mostly boys around 12 years old, with common symptoms including fever, headache, and muscle pain; leukopenia and elevated liver enzymes were the frequent lab findings.
  • Early identification of clinical signs and lab results related to more severe cases is crucial for effective treatment, but no severe dengue cases were reported in this study.
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Article Synopsis
  • The study investigates the genetic factors linked to severe COVID-19, specifically focusing on hospitalized cases in admixed Americans.
  • Researchers conducted the largest genome-wide association study (GWAS) for COVID-19 hospitalization in this population, identifying four significant genetic associations, including two novel loci found in Latin Americans.
  • The findings highlight the importance of including diverse populations in genomic research, aiming to improve understanding of genetic risks associated with COVID-19 across different ethnic groups.
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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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[Genetic testing in neurological diseases: a practical guide].

Medicina (B Aires)

September 2024

Sección Genética Médica, Hospital de Niños Dr. Ricardo Gutiérrez, Buenos Aires, Argentina. E-mail:

Article Synopsis
  • Genomic medicine has integrated molecular genetics into medical consultations, enhancing diagnosis and genetic counseling through advanced scientific data.
  • Recent advancements in genomic sequencing have led to the reclassification of various neurological conditions, improving the understanding and treatment of disorders like epileptic encephalopathies and ataxias.
  • The article aims to outline current laboratory studies and algorithms for genetic disease diagnosis, especially in neuropediatrics, to promote best practices, reduce confusion and costs, and expedite accurate diagnoses.
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Objective: To address the current practice of liberating patients from invasive mechanical ventilation in pediatric intensive care units, with a focus on the use of standardized protocols, criteria, parameters, and indications for noninvasive respiratory support postextubation.

Methods: Electronic research was carried out from November 2021 to May 2022 in Ibero-American pediatric intensive care units. Physicians and respiratory therapists participated, with a single representative for each pediatric intensive care unit included.

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