Publications by authors named "Ines Loverdos"

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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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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  • 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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Introduction:  Umbilical-portal-systemic venous shunts (UPSVS) are rare anomalies in the development of the fetal venous system. There are several postnatal and prenatal classifications of hepatic venous anomalies but the link between them is missing. We aimed to review the prenatal to postnatal diagnosis correlation in UPSVS at our center.

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Ultra-rare genetic disorders can provide proof of concept for efficacy of targeted therapeutics and reveal pathogenic mechanisms relevant to more common conditions. Juvenile polyposis of infancy (JPI) is caused by microdeletions in chromosome 10 that result in haploinsufficiency of two tumor suppressor genes: phosphatase and tensin homolog deleted on chromosome 10 (PTEN) and bone morphogenetic protein receptor type IA (BMPR1A). Loss of PTEN and BMPR1A results in a much more severe phenotype than deletion of either gene alone, with infantile onset pan-enteric polyposis and a high mortality rate.

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Article Synopsis
  • * Researchers analyzed gene expression profiles from blood samples of 12 patients (6 responders and 6 non-responders) before and after two weeks of anti-TNF treatment using advanced RNA sequencing techniques.
  • * They found specific genes that were significantly overexpressed in non-responders, indicating potential biomarkers for early response to anti-TNF therapy in pediatric IBD patients.
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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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Pancreatitis-Panniculitis-Polyarthritis (PPP) syndrome is rare and its physiopathology unclear. A 6-year old boy suffered of traumatic pancreatitis complicated by PPP syndrome. Extensive investigations demonstrated high levels of pancreatic lipase and fatty acids in the affected peripheral tissues.

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