Short Inflammatory Bowel Disease Questionnaire: translation and validation to the Portuguese language.

BACKGROUND: The Short Inflammatory Bowel Disease Questionnaire (SIBDQ) is a widely used instrument to assess Health-related Quality of Life (HRQoL) among inflammatory bowel disease (IBD) patients. Our aim was to translate and adapt the SIBDQ so that it could be adequately used in Portugal. METHODS: This is a prospective design cohort study undertaken at a tertiary hospital. This study took place simultaneously with the first part of the SexIDI study, a study aiming to assess the impact of IBD on patients' sexual QoL. The original SIBDQ was translated by two independent translators and adapted by an IBD expert panel following the opinions of a convenient sample of 5 IBD patients. Afterwards, IBD patients from the outpatient clinic were consecutively invited to fill the Portuguese version of the questionnaire (SIBDQ-PT) at three different timepoints (0, 2, 4 weeks). Ninety-two patients completed the SIBDQ-PT at baseline, whereas 33 did so after 2 and 4 weeks (approximately). Statistical analysis was performed using SPSS version 25, and the following aspects were analysed: reliability (through internal consistency, test-retest and intraclass correlation), validity (through exploratory factor analysis [EFA], and Pearson correlation coefficient for linear correlations), score distribution, and responsiveness analysis (through t-student tests). RESULTS: Overall, SIBDQ-PT was shown to have a high internal consistency (Cronbach's α = 0.80) and a high test-retest reliability (0.80 [CI 0.74-0.86] and 0.69 [CI 0.50-0.82]). EFA detected four dimensions-bowel, social, emotional and systemic. As expected, an overall SIBDQ-PT score was positively correlated with sexual satisfaction (r = 0.27; p < 0.05) and negatively correlated with depression (r = - 0.63; p < 0.01). Moreover, SIBDQ-PT was found to have an adequate score distribution, and to be responsive, as there was a significant subscore change for patients who reported an "overall worsening in general well-being" (0.93 ± 0.13 decrease; p < 0.01). CONCLUSIONS: The Portuguese version of the SIBDQ hereby presented is a reliable, valid and responsive instrument that can be used to measure HRQoL among Portuguese IBD patients.

Methylation patterns in dysplasia in inflammatory bowel disease patients.

Background and aims: Inflammatory Bowel Disease (IBD) with colonic involvement increases colorectal cancer risk. However, the distinction between IBD related and sporadic dysplasia in IBD patients is difficult. Some data favors the importance of abnormal DNA methylation in IBD-related carcinogenesis. We aimed to define methylation patterns in patients with colonic cancer or dysplasia diagnosis following an IBD diagnosis.Methods: Multicentric cross-sectional study-91 samples from colonic mucosa with/without dysplasia from 9 patients with IBD-related dysplasia/cancer and 26 patients with IBD and sporadic dysplasia/cancer were included. Methylation patterns of CpG islands in the promoter regions of 67 genes were studied by Methylation-specific Multiplex Ligation-dependent Probe Amplification.Results: Mean age at IBD diagnosis: 42 ± 16 years;at dysplasia diagnosis: 56 ± 14 years. Twenty-ninepatients had ulcerative colitis. Twenty-five patients had at least 1 lesion endoscopically described as adenoma-like, 4 at least 1 non-adenoma like, 3 had cancer and 3 had dysplasia in flat mucosa. No patient had both adenoma-like and non-adenoma-like lesions. Patients with an IBD-related lesion were significantly younger at IBD diagnosis (p = .003) and at dysplasia/cancer diagnosis (p = .039). Promoter methylation of IGF2, RARB, ESR1, CHFR, CDH13, WT1, GATA5, WIF1genes was significantly associated to dysplasia/cancer; methylation of MSH6, TIMP3 was significantly associated to IBD-related dysplasia/cancer. Promoter methylation of MSH6, MSH3, RUNX3, CRABP1, TP73, RARB, CDH13, PAX5, WT1, THBS1, TP53, SFRP1, WIF1, APAF1, BCL2 genes was significantly associated to active IBD.Conclusions: Methylation analysis, namely of MSH6, may contribute to the classification of dysplastic lesions in IBD- to be further tested in prospective studies.

Primary leiomyoma of the liver: accurate preoperative diagnosis on liver biopsy.

Primary leiomyoma of the liver is an exceptionally rare tumour in non-immunocompromised patients. Preoperative diagnosis of the lesion is difficult as complete imaging of this type of lesion is scarcely defined and preoperative biopsy was not the practice in previously reported cases. We report a voluminous primary leiomyoma of the liver occurring in a healthy middle-aged woman where a preoperative diagnosis was accurately achieved on biopsy. Because of its size, surgery was undertaken for exclusion of malignancy. A 16-month uneventful follow-up has been completed. We discuss the advantage of a preoperative diagnosis and propose that an imaging-guided liver biopsy should be undertaken, provided malignancy features are absent. This could prevent liver surgery merely for diagnostic purposes. Finally, we report imaging features that have not been previously described, namely on magnetic resonance imaging, which may provide an insight about the nature of this particular lesion and, advantageously, contribute toward a non-invasive diagnosis.