Publications by authors named "Ana Fernandez-Lorenzo"
Objectives/background: Vitamin D-binding protein (VDBP) and free vitamin D are new markers that are being studied as a possible markers of vitamin D status. The main aim of our study was to analyze the VDBP genotype and quantify the levels of free vitamin D in a sample of cystic fibrosis (CF) patients.
Methods: We conducted a multicenter, cross-sectional, and prospective study including patients with CF and exocrine pancreatic insufficiency who were clinically stable.
Unlabelled: IMPACT-III and IMPACT-III-P are health-related quality of life (HRQoL) questionnaires for patients with pediatric inflammatory bowel disease (p-IBD) and their parents/caregivers. We aimed to perform a transcultural adaptation and validation for the Spanish context. Translation, back-translation, and evaluation of the questionnaires were performed by an expert committee and 12 p-IBD families.
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- 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.
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.
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.
Exclusive enteral nutrition (EEN) is recommended as a first-line therapy to induce remission of Crohn's disease (CD) and is considered as effective as corticosteroid treatment. However, the dietary restriction causes lack of adherence and poor tolerance to the therapy. Partial enteral nutrition (PEN), which allows for the ingestion of some food, could be a better tolerated alternative, but it is unknown whether it is as effective at inducing CD remission as EEN.
View Article and Find Full Text PDFThe frequency of some Cystic Fibrosis (CF) Transmembrane Conductance Regulator gene (CFTR) mutations varies between populations. Genetic testing during newborn screening (NBS) for CF can identify less common mutations with low clinical expression in childhood and previously considered mild but not fully characterized, such as the mutation p.Val232Asp (c.
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