Browsing by Issue Date, starting with "2024-01-01"
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- Vitamin and micronutrient excess in patients with Crohn’s disease under oral ambulatory exclusive enteral nutritionPublication . Oliveira, R.; Mendes, B.; Neves, J. Cunha; Amorim, E.; Roseira, J.; Sousa, H. Tavares deExclusive enteral nutrition (EEN) is recommended for preoperative nutritional optimization (PNO) in adult Crohn's disease (CD) patients. However, during ambulatory oral EEN, a lack of routine monitoring for vitamins may occur, with a potential risk of hypervitaminosisrelated toxicity, which remains unexplored. This study aims to assess the serum levels of vitamins and micronutrients in CD patients undergoing EEN and to examine its potential impact.
- Characterization of Clostridioides strains and antibiotic resistance profile in Inflammatory Bowel Disease patients with Clostridioides infectionPublication . Oliveira, R.; Sousa, H. Tavares de; Roseira, J.There is an increasing incidence of community-acquired Clostridioides difficile infection (CDI), particularly in IBD. Due to a suspected community outbreak in mid-2023, we aimed to investigate the microbiological and antibiotic resistance profile of CDI in an IBD cohort, employing blind central reading, in order to better understand its epidemiology.
- A rare cause of intellectual disabilityPublication . Oliveira, Íris; Fernandes, Andreia; Pereira, Mafalda; Rodrigues, Márcia; Silva, Noémia; Mendonça, CarlaA seven-year-old female was followed in a developmental clinic from the age of nine months due to delayed psychomotor development. The first physical examination showed a newborn with irritability and a large anterior fontanelle. A transfontanellar ultrasound was performed, revealing mild enlargement of the lateral and third ventricles. Head circumference remained below the third percentile until the age of five months, then rose to the third percentile. Developmental milestones were globally delayed, with expressive language being more severely affected and axial hypotonia with appendicular hypertonia on neurological examination. Subsequent medical observation revealed deep-set eyes, mildly up-slanted palpebral fissures, a high nasal bridge with a broad nasal tip, a thin upper lip, widely spaced teeth, retrognathia, and a slight pectus excavatum. Genetic investigation revealed the diagnosis, with whole-exome sequencing consistent with the genetic diagnosis of autosomal dominant mental retardation type 7 (MRD7). All patients diagnosed with MRD7 have a development delay detected at a young age and, typically, a mild to severe intellectual disability later in life. All individuals present language impairment, especially in verbal expression. Motor development is typically affected by gait disturbances and generalized hypertonia, which are noted early in life. Microcephaly is a prominent feature of this syndrome, present in over 90% of the cases. The most common findings in MRD7 (microcephaly and intellectual disability) have a broad differential diagnosis. Some disorders have multiple findings in common with MRD7, such as Angelman syndrome (AS), MECP2 disorders, or Mowat-Wilson syndrome (MWS). MRD7 is a rare genetic syndrome characterized by developmental delay/intellectual disability, microcephaly, autism spectrum disorder, behavior problems, typical facial features, and seizures. Early intervention is more likely to be effective and potentially change a child's developmental path. Small gains early in life could represent a significant difference in the children's future autonomy.
- Maternal and perinatal outcomes in pregnant women with rheumatic diseases treated with biosimilar TNF inhibitorsPublication . Chícharo, Ana Teodósio; Lopes, Ana R.; Barreira, Sofia; Pinto, Luísa; Machado, Ana R. Cruz; Capela, SusanaNo safety or efficacy issues arose from using biosimilar TNFi during conception or pregnancy.
- Pre-operative exposure to tofacitinib is as safe as biologics in patients with ulcerative colitis undergoing colectomy: a multicentre observational studyPublication . Dragoni, G.; Innocenti, T.; Amiot, A.; Castiglione, F.; Melotti, L.; Festa, S.; Savarino, E. V.; Truyens, M.; Argyriou, K.; Noviello, D.; Molnar, T.; Bouillon, V.; Bezzio, C.; Eder, P.; Fernandes, S.; Kagramanova, A.; Armuzzi, A.; Oliveira, R.; Viola, A.; Ribaldone, D. G.; Drygiannakis, I.; Viganò, C.; Calella, F.; Gravina, A. G.; Pugliese, D.; Chaparro, M.; Ellul, P.; Vieujean, S.; Milla, M.; Caprioli, F.Patients with ulcerative colitis (UC) receiving immunomodulators are at substantial risk of colectomy. Since robust evidence regarding the post-operative outcomes of patients treated with anti-JAKs in the pre-operative phase is lacking, we aimed to assess the risk of complications of tofacitinib exposure prior to colectomy in comparison with anti-TNFs, vedolizumab, and ustekinumab.
- DOP56 Fibrosis-related transcriptome unveils a distinctive matrix remodelling pattern in penetrating but not in stricturing ileal Crohn's DiseasePublication . Sousa, Helena Tavares; Ferreira. M.; Gullo, I.; Rocha, A. M.; Oliveira, C.; Carneiro, F.; Magro, F.Fibrosis underlies most of CD complications requiring surgery, such as intestinal strictures and penetrating events. We previously demonstrated there were no histopathological differences on transmural fibrosis and fibromuscular changesbetween penetrating and stricturing ileal CD. This study aimed to investigate and compare the fibrosis-related transcriptomic profiles of penetrating and stricturing ileal CD.