Publications by authors named "Segarra O"

Article Synopsis
  • This study focuses on how gene expression changes may affect pediatric patients with inflammatory bowel diseases (IBDs) in their response to anti-TNF treatments like infliximab and adalimumab.
  • Researchers analyzed blood samples from 24 patients to identify genes that could predict early treatment responses, discovering 102 differentially expressed genes.
  • Key findings included four validated genes (CEACAM8, LCN2, LTF2, and PRTN3) that showed increased expression in responders, highlighting their potential role in treatment effectiveness and involvement in immune responses.
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Purpose: To describe a cohort with a high risk of recurrence who received bezlotoxumab during the first episode of Clostridioides difficile infection (CDI) and to compare this cohort with patients with similar characteristics who did not receive the monoclonal antibody.

Methods: A prospective and multicentre study of patients with a high risk of recurrence (expected recurrence rate>35%) who were treated with bezlotoxumab during their first episode of CDI was conducted. A propensity score-matched model 1:2 was used to compare both cohorts that were weighed according to basal characteristics (hospital-acquisition, creatinine value, and fidaxomicin as a CDI treatment).

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Article Synopsis
  • * A total of 340 pediatric patients treated with infliximab or adalimumab were genotyped for 9 specific genetic variants, revealing that certain variants are linked to poorer long-term treatment outcomes.
  • * Identifying these genetic markers could help tailor anti-TNF therapy for children, allowing healthcare providers to better predict which patients are likely to benefit in the long run, pending further validation.
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Article Synopsis
  • Cow's milk allergy (CMA) is a common concern in children, and mothers of breast-fed infants with CMA are advised to eliminate dairy from their diets; hypoallergenic formulas are recommended for formula-fed infants.
  • Some infants do not tolerate extensively hydrolyzed formulas (EHF), leading to the consideration of amino acid-based formulas (AAF) for severe cases of CMA.
  • A panel of gastroenterologists suggests using AAFs as the first option in instances of severe CMA, especially when there are additional food allergies or other gastrointestinal issues that don’t respond to conventional dietary exclusions.
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Article Synopsis
  • The study investigates the genetic variants rs2395185 and rs2097432 in HLA genes and their effect on the long-term efficacy of anti-TNF treatments in children with inflammatory bowel disease (IBD).
  • Researchers conducted an analysis on 340 pediatric IBD patients from Spanish hospitals, using statistical methods to assess the impact of these genetic polymorphisms on treatment outcomes.
  • Results showed that specific alleles (homozygous G for rs2395185 and C for rs2097432) were linked to a reduced long-term response to anti-TNF drugs, highlighting a difference in response between children and adults with Crohn's disease treated with infliximab.
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Background:  The Serial Transverse Enteroplasty Procedure (STEP) Registry has reported a 47% success to achieve enteral autonomy in pediatric short bowel syndrome (SBS). We have performed the STEP with a technical modification (MSTEP) consisting in stapler application without mesenteric defects that can also be applied to the duodenum. Our experience with this technique is described.

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Article Synopsis
  • A multicenter study involving 15 hospitals analyzed 101 pediatric patients hospitalized due to COVID-19, focusing on gastrointestinal (GI) symptoms.
  • GI symptoms were found in 57% of the patients, with 14% experiencing them as the first sign of infection.
  • Children with GI symptoms had an increased risk of requiring admission to the pediatric intensive care unit, indicating that these symptoms could predict the severity of COVID-19 in hospitalized kids.
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Objectives: Inflammatory bowel disease (IBD) is more complex in children and they will have to live with the disease for much longer. For this reason, it is necessary to optimize treatment. The polymorphisms associated with the response to anti-tumor necrosis factor (TNF) drugs in adults with IBD have not been analyzed in children.

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Aims: Identifying DNA variants associated with trough serum anti-tumour necrosis factor (TNF) levels could predict response to treatment in inflammatory bowel disease (IBD). To date, no specific studies have been performed in children. The aim of this study was to identify genetic variants associated with trough serum anti-TNF levels and whether these variants are differential markers for infliximab and adalimumab.

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Around a 20-30% of inflammatory bowel disease (IBD) patients are diagnosed before they are 18 years old. Anti-TNF drugs can induce and maintain remission in IBD, however, up to 30% of patients do not respond. The aim of the work was to identify markers that would predict an early response to anti-TNF drugs in pediatric patients with IBD.

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Objective: The aim of the study was to describe clinical, epidemiological, and management characteristics of food protein-induced enterocolitis syndrome (FPIES) cases in Spain.

Patients And Methods: Multicenter observational retrospective study. FPIES cases diagnosed in specialized units in Spain over 12 months in 2017 (January-December) according to the recently published international diagnostic criteria were included.

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Despite optimal medical treatment and strict low-protein diet, the prognosis of propionic acidemia (PA) patients is generally poor. We aim to report our experience with liver transplantation (LT) in the management of PA patients. Six patients with PA received a LT at a mean age of 5.

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Introduction: Hepatitis C virus infection is world health problem. The aim of this study was to assess the safety and efficacy of ledipasvir/sofosbuvir combination in chronic Hepatitis C Virus (HCV) genotype 1 and 4 infection in paediatric patients.

Methods: Eligible patients to be treated with ledipasvir/sofosbuvir were patients from 6 to 18 years old with a chronic HCV genotype 1 or 4 infection.

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Background: Arthrogryposis-Renal dysfunction-Cholestasis syndrome (ARC, MIM#208085) is a rare multisystem disease due to mutations in the VPS33B and VIPAR genes, both involved in maintaining apical-basolateral cell polarity. The correlation between mutations and phenotype in the ARC Syndrome is not well described. We report on a 6 year old patient who presented with severe renal Fanconi as first manifestation of ARC related to a combined de novo mutation in the VPS33B gene.

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Article Synopsis
  • A novel surgical technique for duodenal lengthening was performed on three children with short bowel syndrome who had dilated duodenum, utilizing a modified procedure to avoid damage to nearby structures.
  • The procedure involved sequentially applying an endoscopic stapler to lengthen the duodenum, with no surgical complications reported, although one patient did experience transient D-lactic acidosis.
  • Post-surgery, two patients successfully reduced their dependency on parenteral nutrition, demonstrating that duodenal lengthening can enhance nutrient absorption in extreme cases of short bowel syndrome.
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Objectives: Exclusive enteral nutrition (EEN) is one of the therapeutic strategies used to induce remission in pediatric Crohn's disease (CD). Although its use is recommended in clinical practice guidelines and consensus documents, the frequency of this practice in Spain is unknown.

Methods: A 70-item questionnaire (

Present: PREScription of Enteral Nutrition in pediaTric Crohn's disease in Spain) was drafted and distributed through the SEGHNP (Spanish Society for Pediatric Gastroenterology, Hepatology and Nutrition) e-mail list.

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Background: Constipation is a common occurrence in formula-fed infants. The aim of this preliminary study was to evaluate the impact of a formula with high levels of lactose and magnesium, in compliance with the official regulations, on stool water content, as well as a parental assessment of constipation.

Materials And Methods: Thirty healthy term-born, formula-fed infants, aged 4-10 weeks, with functional constipation were included.

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Aim: To evaluate the impact of feeding colicky infants with an adapted formula on the hydrogen breath test and clinical symptoms.

Methods: Hydrogen expiration was measured by SC MicroLyzer gas chromatography at inclusion and 15 d after treatment with an adapted low-lactose formula in 20 colicky infants.

Results: All babies were symptomatic: 85% with excess gas, 75% with abnormal feeding pattern, and 85% with excessive crying.

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The repeated use of psychostimulants in humans has been associated with progressive enhancement of anxiety, panic attacks, and eventually paranoid psychosis. The appearance of such behaviors has been termed behavioral sensitization, which forms part of the basic pathological mechanisms involved in drug addiction. Psychostimulants act via a circuit involving the ventral tegmental area (VTA), prefrontal cortex (PFC), and nucleus accumbens.

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The goal of the present study was to investigate the effects of intravenous cocaine administration on cerebellar Purkinje cell firing. Extracellular neuron activity was recorded and cells were locally excited with spaced microiontophoretic pulses of glutamate. Glutamate-evoked and spontaneous discharges were compared before and immediately following cocaine administration.

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Imipramine is an effective antidepressant agent that blocks the reuptake of monoamines. In order to understand some of its basic mechanisms of action, we investigated the effects of chronic imipramine administration (10 mg/kg, i.p.

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