المؤلفون: Verónica Bindi, Hernán D. Eiroa, Carolina Crespo, María Martinez, Luisa Bay

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

مصطلحات موضوعية: Glycogen storage disease I, growth, metabolic control, Complications, liver adenoma, Hypertriglyceridemia, Lactic acidemia, nephropathy, Medicine (General), R5-920

الوصف: Abstract Glycogen storage disease type I is an autosomal recessive disorder of carbohydrate metabolism that manifests mainly by hepatomegaly and hypoglycemia with short fasts. Despite strict therapy, patients present long-term renal and liver complications. Data of 36 patients,29 GSD Ia and 7 Ib from a high complexity Hospital in Argentina was collected retrospectively. Collected data included diagnosis, anthropometric, biochemical parameters, therapy and follow-up. Treatment increased Height SDS (p=0.012). Patients with good adherence to therapy presented better growth parameters (p=0.049). Instead, admissions were detrimental (p =0.031) and were more common in Ib patients (p=0.002). The early appearance of complications (liver adenomas and nephropathy) was related to sustained triglyceride values > 500mg / dl (p=0.009 and 0.046 respectively). With intensive dietary treatment, clinical and biochemical status improves but cannot be completely corrected in most patients. Growth improves with treatment and this is optimized with adequate adherence. We must take into account that with ageing, more complications will develop.

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100307&tlng=enTest; https://doaj.org/toc/2326-4594Test

الوصول الحر: https://doaj.org/article/1d73ed9acea64deaaac3451021869be2Test

المؤلفون: Luisa Bay

المصدر: Revista Paraguaya de Reumatología, Vol 3, Pp 1-1 (2017)

مصطلحات موضوعية: Internal medicine, RC31-1245, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: http://www.revista.spr.org.py/index.php/spr/article/view/48Test; https://doaj.org/toc/2413-709XTest; https://doaj.org/toc/2413-4341Test

الوصول الحر: https://doaj.org/article/a5c9f130f06d4a60928e452c9dcd190eTest

المؤلفون: Ariana Díaz, Luciano D’Attilio, Federico Penas, Bettina Bongiovanni, Estefanía Massa, Agata Cevey, Natalia Santucci, Oscar Bottasso, Nora Goren, María Luisa Bay

المصدر: Frontiers in Cellular and Infection Microbiology, Vol 13 (2023)

مصطلحات موضوعية: tuberculosis, cortisol, DHEA, PPARγ, infectious disease, Microbiology, QR1-502

الوصف: IntroductionTuberculosis (TB) is a major health problem characterized by an immuno-endocrine imbalance: elevated plasma levels of cortisol and pro- and anti-inflammatory mediators, as well as reduced levels of dehydroepiandrosterone. The etiological agent, Mycobacterium tuberculosis (Mtb), is captured by pulmonary macrophages (Mf), whose activation is necessary to cope with the control of Mtb, however, excessive activation of the inflammatory response also leads to tissue damage. Glucocorticoids (GC) are critical elements to counteract the immunoinflammatory reaction, and peroxisome proliferator-activated receptors (PPARs) are also involved in this regard. The primary forms of these receptors are PPARϒ, PPARα, and PPARβ/δ, the former being the most involved in anti-inflammatory responses. In this work, we seek to gain some insight into the contribution of PPARϒ in immuno-endocrine-metabolic interactions by focusing on clinical studies in pulmonary TB patients and in vitro experiments on a Mf cell line.Methods and resultsWe found that TB patients, at the time of diagnosis, showed increased expression of the PPARϒ transcript in their peripheral blood mononuclear cells, positively associated with circulating cortisol and related to disease severity. Given this background, we investigated the expression of PPARϒ (RT-qPCR) in radiation-killed Mtb-stimulated human Mf. The Mtb stimulation of Mf derived from the human line THP1 significantly increased the expression of PPARϒ, while the activation of this receptor by a specific agonist decreased the expression of pro- and anti-inflammatory cytokines (IL-1β and IL-10). As expected, the addition of GC to stimulated cultures reduced IL-1β production, while cortisol treatment together with the PPARϒ agonist lowered the levels of this proinflammatory cytokine in stimulated cultures. The addition of RU486, a glucocorticoid receptor antagonist, only reversed the inhibition produced by the addition of GC.ConclusionThe current results provide a stimulating background for further analysis of the interconnection between PPARs and steroid hormones in the context of Mtb infection.

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fcimb.2023.1067464/fullTest; https://doaj.org/toc/2235-2988Test

الوصول الحر: https://doaj.org/article/0ad8ec77ccf44e64ae55619ac745042cTest

المؤلفون: Bettina Bongiovanni, Ariana Díaz, Natalia Santucci, Luciano David D’Attilio, Oscar Bottasso, Rogelio Hernández Pando, María Luisa Bay

المصدر: Frontiers in Endocrinology, Vol 13 (2022)

مصطلحات موضوعية: immunoendocrinology, adrenal hormones, infection disease, Dehydroepiandrosterone (DH EA), Tuberculosis, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

الوصف: Dehydroepiandrosterone (DHEA) is an androgen synthesized by the adrenal cortex, which is an intermediary in the biosynthesis of sex hormones, such as testosterone and estradiol. DHEA mostly circulates as a conjugated ester, in the form of sulfate (DHEA-S). There exist several endogenous factors able to influence its synthesis, the most common ones being the corticotrophin-releasing hormone (CRH), adrenocorticotrophin (ACTH), growth factors, and proinflammatory cytokines, among others. Like other steroid hormones, DHEA, can alter the functioning of immune cells and therefore the course of diseases exhibiting an immune-inflammatory component, mostly from autoimmune or infectious nature. We herein review the role played by DHEA during a major infectious disease like tuberculosis (TB). Data recorded from TB patients, mouse models, or in vitro studies show that DHEA is likely to be implied in better disease control. This provides a stimulating background for carrying out clinical studies aimed at assessing the usefulness of DHEA as an adjuvant in TB patients.

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2022.892270/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/030a50de3ba44223a2ba8036a1b6dc7fTest

المؤلفون: Georgina Gallucci, Natalia Santucci, Ariana Díaz, Bettina Bongiovanni, Diego Bértola, Walter Gardeñez, Mauricio Rassetto, María Luisa Bay, Oscar Bottasso, Luciano D'Attilio

المصدر: PLoS ONE, Vol 16, Iss 9, p e0257214 (2021)

مصطلحات موضوعية: Medicine, Science

الوصف: Our earlier studies in tuberculosis (TB) patients indicate that in those where the process evolves to a larger pulmonary involvement, the immune endocrine response may promote an unfavorable environment. Chronic infectious diseases, and their persistent proinflammatory response, may affect mucosal barriers integrity favoring the translocation of gastrointestinal bacteria, leading to an increase of circulating lipopolysaccharides (LPS). Consequently, we quantified LPS levels in TB patients, with different degrees of pulmonary involvement, and controls (Co) and analyzed the possible relationship between LPS and inflammatory mediators i.e., C reactive protein (CRP), interleukin 6 (IL-6) and Interferon-gamma (IFN-γ), Erythrocyte Sedimentation Rate (ESR), steroid hormones (Cortisol and Dehydroepiandrosterone, DHEA), and inflammatory transcripts from peripheral blood mononuclear cells (IL-1β, IL-6, IFN-γ). LPS was assessed by the Limulus amoebocyte lysate assay and the ELISA technique was used to quantify hormones and cytokines in the plasma samples. Cytokine transcripts from PBMC were evaluated by qRT-PCR. Non-parametric tests were used. LPS levels were increased in TB patients, as did levels of CRP, IL-6, IFN-γ, cortisol and ESR. Severe patients had the highest amounts of circulating LPS; with moderate and severe cases showing much higher levels of CRP, ESR, IL-6, IFN-γ and cortisol/DHEA ratio, as an endocrine imbalance. Only in PBMC from severe cases was mRNA for IL-1β increased. Correlation analysis showed that levels of LPS from severe patients were positively associated with IL-6 and IFN-γ plasma concentrations and with IL-1β transcripts, while IL-6 had a positive correlation with the cortisol/DHEA ratio. The higher levels of circulating LPS during progressive TB may emerge as a contributing factor for the persistence of the greater immune endocrine imbalance distinctive of advanced disease, which might suggest a vicious cycle among LPS, inflammation and endocrine imbalance.

العلاقة: https://doi.org/10.1371/journal.pone.0257214Test; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/e72c49a9263e4b99a77efc1b924649ddTest

الإتاحة: https://doi.org/10.1371/journal.pone.0257214Test
https://doaj.org/article/e72c49a9263e4b99a77efc1b924649ddTest

المؤلفون: Ariana Díaz, Magdalena Diab, Dulce Mata-Espinosa, Estela Bini, Luciano D'Attilio, Oscar Bottasso, Rogelio Hernández-Pando, María Luisa Bay, Bettina Bongiovanni

المصدر: Cytokine. 168:156229

مصطلحات موضوعية: Immunology, Immunology and Allergy, Hematology, Molecular Biology, Biochemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::71841525d76e5d14e12b63f00d837403Test
https://doi.org/10.1016/j.cyto.2023.156229Test

المؤلفون: Lynda E. Polgreen, Luisa Bay, Lorne A. Clarke, Nathalie Guffon, Simon A. Jones, Joseph Muenzer, Ana Lorena Flores, Kathryn Wilson, David Viskochil

المصدر: American journal of medical genetics. Part A. 188(10)

مصطلحات موضوعية: Male, Iduronidase, Cognition, Mucopolysaccharidosis I, Genetics, Humans, Enzyme Replacement Therapy, Female, Registries, Child, Genetics (clinical), Body Height, Recombinant Proteins

الوصف: Mucopolysaccharidosis Type I (MPS I) is caused by deficiency of α-L-iduronidase. Short stature and growth deceleration are common in individuals with the attenuated MPS I phenotype. Study objectives were to assess growth in individuals with attenuated MPS I enrolled in The MPS I Registry while untreated and after initiation of enzyme replacement therapy (ERT) with laronidase (recombinant human iduronidase). Individuals in the MPS I Registry with at least one observation for height and assigned attenuated MPS I phenotype as of September 2020 were included. The cohort included 142 males and 153 females 2-18 years of age. Age and sex adjusted standardized height-for-age z-scores during the natural history and ERT-treatment periods were assessed using linear mixed model repeated measures analyses. Growth curves were estimated during both periods and compared to standard growth charts from the Center for Disease Control (CDC). There was a significantly slower decline in height z-scores with age during the ERT-treated period compared to the natural history period. Estimated average height z-scores in the ERT-treatment versus the natural history period at age 10 were -2.4 versus -3.3 in females and -1.4 versus -2.9 in males (females first treated 3 year; males4.1 year). While median height remained below CDC standards during both the natural history and ERT-treated periods for individuals with attenuated MPS I, laronidase ERT was associated with slower declines in height z-scores.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9738a2cf2231978ff083bda228c63d88Test
https://pubmed.ncbi.nlm.nih.gov/35869927Test

المؤلفون: Luisa Bay

المصدر: Paraguayan Journal of Rheumatology; Vol. 3 (2017): Suplemento; 1-1 ; Revista Paraguaya de Reumatología; Vol. 3 (2017): Suplemento; 1-1 ; 2413-4341 ; 2413-709X

وصف الملف: application/pdf

العلاقة: http://www.revista.spr.org.py/index.php/spr/article/view/48/68Test; http://www.revista.spr.org.py/index.php/spr/article/view/48Test

الإتاحة: http://www.revista.spr.org.py/index.php/spr/article/view/48Test

المؤلفون: Walter Gardeñez, Mauricio Rassetto, Natalia Santucci, Oscar Bottasso, Bettina Bongiovanni, María Luisa Bay, Diego Bértola, Luciano D’Attilio, Georgina Florencia Gallucci, Ariana Díaz

المصدر: PLoS ONE
PLoS ONE, Vol 16, Iss 9, p e0257214 (2021)

مصطلحات موضوعية: Lipopolysaccharides, Bacterial Diseases, Physiology, medicine.medical_treatment, Interleukin-1beta, Biochemistry, Cortisol, Medical Conditions, Immune Physiology, Medicine and Health Sciences, Medicine, Lipid Hormones, Immune Response, Innate Immune System, Multidisciplinary, biology, Middle Aged, C-Reactive Proteins, Lipids, Body Fluids, Cytokine, C-Reactive Protein, Infectious Diseases, Blood, Cholesterol, Cytokines, medicine.symptom, Anatomy, Research Article, Adult, Adolescent, Science, Inflammatory Diseases, Immunology, Inflammation, Blood Plasma, Proinflammatory cytokine, Interferon-gamma, Young Adult, Immune system, Signs and Symptoms, Endocrine system, Humans, Tuberculosis, Interleukin 6, Aged, Steroid Hormones, business.industry, Interleukin-6, C-reactive protein, Biology and Life Sciences, Proteins, Mycobacterium tuberculosis, Molecular Development, Tropical Diseases, Hormones, Immune System, biology.protein, Leukocytes, Mononuclear, Clinical Medicine, business, Hormone, Developmental Biology

الوصف: Our earlier studies in tuberculosis (TB) patients indicate that in those where the process evolves to a larger pulmonary involvement, the immune endocrine response may promote an unfavorable environment. Chronic infectious diseases, and their persistent proinflammatory response, may affect mucosal barriers integrity favoring the translocation of gastrointestinal bacteria, leading to an increase of circulating lipopolysaccharides (LPS). Consequently, we quantified LPS levels in TB patients, with different degrees of pulmonary involvement, and controls (Co) and analyzed the possible relationship between LPS and inflammatory mediators i.e., C reactive protein (CRP), interleukin 6 (IL-6) and Interferon-gamma (IFN-γ), Erythrocyte Sedimentation Rate (ESR), steroid hormones (Cortisol and Dehydroepiandrosterone, DHEA), and inflammatory transcripts from peripheral blood mononuclear cells (IL-1β, IL-6, IFN-γ). LPS was assessed by the Limulus amoebocyte lysate assay and the ELISA technique was used to quantify hormones and cytokines in the plasma samples. Cytokine transcripts from PBMC were evaluated by qRT-PCR. Non-parametric tests were used. LPS levels were increased in TB patients, as did levels of CRP, IL-6, IFN-γ, cortisol and ESR. Severe patients had the highest amounts of circulating LPS; with moderate and severe cases showing much higher levels of CRP, ESR, IL-6, IFN-γ and cortisol/DHEA ratio, as an endocrine imbalance. Only in PBMC from severe cases was mRNA for IL-1β increased. Correlation analysis showed that levels of LPS from severe patients were positively associated with IL-6 and IFN-γ plasma concentrations and with IL-1β transcripts, while IL-6 had a positive correlation with the cortisol/DHEA ratio. The higher levels of circulating LPS during progressive TB may emerge as a contributing factor for the persistence of the greater immune endocrine imbalance distinctive of advanced disease, which might suggest a vicious cycle among LPS, inflammation and endocrine imbalance.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11746c816e36f3cc3452ba87bc0d5c45Test
https://pubmed.ncbi.nlm.nih.gov/34506568Test

المؤلفون: Graciela Zuccaro, Hernán Eiroa, Hernan Amartino, Mariana Cazalas, Claudia Arberas, Adriana Berretta, Claudio A S Parisi, Guillermo Drelichman, Marcela Pereyra, Carmen De Cunto, Luisa Bay, Adriana Copiz, Alberto Maffey, Hugo Botto, Alejandro Fainboim, Virginia Fano, Graciela Espada, Andrea Schenone, Norberto Guelber, Alejandra Antacle, Rodrigo Remondino, Raquel Staciuk, Norma Spécola

المصدر: Archivos Argentinos de Pediatria. 119

مصطلحات موضوعية: 0301 basic medicine, Allergy, Pediatrics, medicine.medical_specialty, business.industry, Eye disease, Adult care, Enzyme replacement therapy, medicine.disease, 03 medical and health sciences, Mucopolysaccharidosis type I, 030104 developmental biology, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, medicine, business, 030217 neurology & neurosurgery

الوصف: Here we describe the current challenges of mucopolysaccharidosis type I: the need for an adequate classification, establishing its relationship to therapeutic indications; an early diagnosis, from neonatal screening, its advantages and barriers, to clinical suspicion of severe and attenuated forms; spinal and eye disease care, from diagnosis to follow-up and treatment; allergic reactions caused by enzyme replacement therapy, their diagnosis and treatment. And lastly, transition to adult care.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::27199487412c5fa7d22223a634696872Test
https://doi.org/10.5546/aap.2021.e193Test