Publications by authors named "Miguel Garcia-Gonzalez"

Background And Aims: Human milk (HM) is the earliest form of extrauterine communication between mother and infant, that could promote early programming. The aim of this study is to look for specific biological processes, particularly those undergoing prematurity, modulated by proteins and miRNAs of HM that could be implicated in growth and development.

Methods: This is a prospective, observational, single center study in which we collected 48 human milk (HM) samples at two distinct stages of lactation: colostrum (first 72-96 h) and mature milk (at week 4 post-delivery) from mothers of very preterm newborns (<32 weeks) and term (≥37 and < 42 weeks).

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Article Synopsis
  • * Mutations in this gene can disrupt normal function, resulting in renal issues like polycystic kidney disease and structural kidney abnormalities, as well as extrarenal problems like diabetes, genitourinary malformations, and neurodevelopmental disorders.
  • * Future research aims to clarify how these genetic changes affect health, which could improve clinical management and support for affected patients and their families.
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A randomized, double-blind, and placebo-controlled study was conducted to assess the effect of dietary supplementation with high-rich docosahexaenoic acid (DHA) (Tridocosahexanoin-AOX 70%) at 50 mg/kg/day in pediatric patients with cystic fibrosis (CF) as compared with placebo. The duration of supplementation was 12 months. A total of 22 patients were included, with 11 in the DHA group and 11 in the placebo group.

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Article Synopsis
  • The study by Chen et al. introduces base editing as a groundbreaking genetic engineering tool used in a rat model to treat primary hyperoxaluria type 1, a liver-originating disease that primarily impacts the kidneys.
  • The commentary offers insights into the gene-editing technology utilized and evaluates the results presented by the authors.
  • It also discusses potential future uses of this technology in medical treatment.
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Introduction: The association between viral infections and pulmonary exacerbations in children with cystic fibrosis (cwCF) is well established. However, the question of whether cwCF are at a higher risk of COVID-19 or its adverse consequences remains controversial.

Methods: We conducted an observational, multicenter, cross-sectional study of cwCF infected by severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) between March 2020 and June 2022, (first to sixth COVID-19 pandemic waves) in Spain.

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Introduction: staging fibrosis extent in liver disease is highly relevant for appropriate management. Liver biopsy remains the reference standard for assessment, but noninvasive methods such as elastography are becoming increasingly accurate and relevant. However, evidence regarding elastography in cholestatic diseases is lower than in other etiologies.

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We characterized the fatty acid profiles in the erythrocyte membrane of pediatric patients with cystic fibrosis (CF) receiving highly concentrated docosahexaenoic acid (DHA) supplementation (Tridocosahexanoin-AOX 70%) at 50 mg/kg/day ( = 11) or matching placebo ( = 11) for 12 months. The mean age was 11.7 years.

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Metabolic diseases are a worldwide health problem. Insulin resistance (IR) is their distinctive hallmark. For their study, animal models that provide reliable information are necessary, permitting the analysis of the cluster of abnormalities that conform to it, its progression, and time-dependent molecular modifications.

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The case was a 47-year-old asymptomatic male with a personal history of splenectomy during childhood. He was referred to our outpatient clinic to complete the study of a space-occupying liver lesion. The initial diagnostic suspicion was liver adenoma, given its behavior on magnetic resonance imaging and the absence of previous liver disease.

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Wearables are being increasingly used to monitor heart rate (HR). However, their usefulness for analyzing continuous HR in research or at clinical level is questionable. The aim of this study is to analyze the level of agreement between different wearables in the measurement of HR based on photoplethysmography, according to different body positions and physical activity levels, and compared to a gold-standard ECG.

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Genetic kidney diseases (GKDs) are a group of rare diseases, affecting approximately about 60 to 80 per 100,000 individuals, for which there is currently no treatment that can cure them (in many cases). GKDs usually leads to early-onset chronic kidney disease, which results in patients having to undergo dialysis or kidney transplant. Here, we briefly describe genetic causes and phenotypic effects of six GKDs representative of different ranges of prevalence and renal involvement (ciliopathy, glomerulopathy, and tubulopathy).

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Background: Oral immunotherapy (OIT) is a promising approach to cow's milk and egg allergies, but reactions are frequent and some patients cannot be desensitized.

Objective: To evaluate long-term OIT outcomes with omalizumab (OMZ) in paediatric patients with severe egg and/or milk allergies.

Methods: This retrospective real-life study analysed findings in children with Immunoglobulin E-mediated allergy to cow's milk and/or hen eggs refractory to conventional OIT, who underwent OIT with OMZ in our department between 1 January 2010 and 31 December 2015.

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Background And Aim: reduction in calcineurin inhibitor levels is considered crucial to decrease the incidence of kidney dysfunction in liver transplant (LT) recipients. The aim of this study was to evaluate the safety and impact of everolimus plus reduced tacrolimus (EVR + rTAC) vs. mycophenolate mofetil plus tacrolimus (MMF + TAC) on kidney function in LT recipients from Spain.

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Unlabelled: Chronic treatment with sildenafil (SILD) is an effective protector on the development of cardiovascular complications of pulmonary hypertension (PH) and diabetes. However, to date, no studies have evaluated the effect of SILD on cardiopulmonary pathophysiology during PH secondary to type 1 diabetes.

Aim: The present study aimed to evaluate the beneficial effects of chronic SILD treatment on pulmonary arterial pressure, right ventricular hypertrophy (RVH) and cardiac autonomic dysfunction in rats with PH secondary to diabetes.

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Background: In most cases, severe asthma in children has an allergic etiology, but allergen-specific immunotherapy (AIT) is contraindicated.

Objective: This study aimed at analyzing the safety and efficacy of AIT in patients with severe asthma treated with omalizumab (OM).

Methods: A descriptive real-life study was carried out by reviewing medical records.

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(1) Background: Polycystic liver disease (PLD) is a heterogeneous group of congenital disorders characterized by bile duct dilatation and cyst development derived from cholangiocytes. Nevertheless, the cystogenesis mechanism is currently unknown and the PLD treatment is limited to liver transplantation. Novel and efficient therapeutic approaches are th6us needed.

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Gitelman and Bartter syndromes are rare inherited diseases that belong to the category of renal tubulopathies. The genes associated with these pathologies encode electrolyte transport proteins located in the nephron, particularly in the Distal Convoluted Tubule and Ascending Loop of Henle. Therefore, both syndromes are characterized by alterations in the secretion and reabsorption processes that occur in these regions.

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Alport syndrome is a genetic and hereditary disease, caused by mutations in the type IV collagen genes , and , that affects the glomerular basement membrane of the kidney. It is a rare disease with an underestimated prevalence. Genetic analysis of population cohorts has revealed that it is the second most common inherited kidney disease after polycystic kidney disease.

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Autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder and one of the most severe forms of polycystic kidney disease, leading to end-stage renal disease (ESRD) in childhood. is the gene that is responsible for the vast majority of ARPKD. However, some cases have been related to a new gene that was recently identified ( gene), as well as several ciliary genes that can mimic a ARPKD-like phenotypic spectrum.

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Background: In autosomal dominant polycystic kidney disease (ADPKD), cyst development and enlargement lead to ESKD. Macrophage recruitment and interstitial inflammation promote cyst growth. TWEAK is a TNF superfamily (TNFSF) cytokine that regulates inflammatory responses, cell proliferation, and cell death, and its receptor Fn14 (TNFRSF12a) is expressed in macrophage and nephron epithelia.

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Most tissue biopsies from patients in hospital environments are formalin-fixed and paraffin-embedded (FFPE) for long-term storage. This fixation process produces a modification in the proteins called "crosslinks", which improves protein stability necessary for their conservation. Currently, these samples are mainly used in clinical practice for performing immunohistochemical analysis, since these modifications do not suppose a drawback for this technique; however, crosslinks difficult the protein extraction process.

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Introduction: despite advances in imaging diagnostic modalities, hepatocellular carcinoma is sometimes incidentally diagnosed on histological examination of the liver explant. The objectives of the study were: a) to compare the characteristics between incidental and known hepatocellular carcinoma; and b) to estimate survival and tumor recurrence after liver transplantation.

Material And Methods: a retrospective, single-center study was performed.

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Clinical studies suggest that diabetes is a risk factor in the development of pulmonary arterial hypertension. The increase in blood pressure in the pulmonary area is characterized by the increase in the afterload and hypertrophy of the right ventricle. The objective of this study was to conduct a longitudinal follow-up of the morphological and functional changes in the right ventricle in a rat model with pulmonary arterial hypertension secondary to diabetes.

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The Catalonian Newborn Screening Program (CNSP) began in 1969, in Barcelona. It was promoted by Dr. Juan Sabater Tobella and supported by Barcelona Provincial Council and Juan March Foundation.

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