CFTR, the cystic fibrosis (CF) gene, encodes for the CFTR protein that plays an essential role in anion regulation and tissue homeostasis of various epithelia. In the gastrointestinal (GI) tract CFTR promotes chloride and bicarbonate secretion, playing an essential role in ion and acid–base homeostasis. Cftr has been identified as a candidate driver gene for colorectal cancer (CRC) in several Sleeping Beauty DNA transposon-based forward genetic screens in mice. Further, recent epidemiological and clinical studies indicate that CF patients are at high risk for developing tumors in the colon. To investigate the effects of CFTR dysregulation on GI cancer, we generated ApcMin mice that carried an intestinal-specific knockout of Cftr. Our results indicate that Cftr is a tumor suppressor gene in the intestinal tract as Cftr mutant mice developed significantly more tumors in the colon and the entire small intestine. In Apc+/+ mice aged to ~ 1 year, Cftr deficiency alone caused the development of intestinal tumors in >60% of mice. Colon organoid formation was significantly increased in organoids created from Cftr mutant mice compared with wild-type controls, suggesting a potential role of Cftr in regulating the intestinal stem cell compartment. Microarray data from the Cftr-deficient colon and the small intestine identified dysregulated genes that belong to groups of immune response, ion channel, intestinal stem cell and other growth signaling regulators. These associated clusters of genes were confirmed by pathway analysis using Ingenuity Pathway Analysis and gene set enrichment analysis (GSEA). We also conducted RNA Seq analysis of tumors from Apc+/+ Cftr knockout mice and identified sets of genes dysregulated in tumors including altered Wnt β-catenin target genes. Finally we analyzed expression of CFTR in early stage human CRC patients stratified by risk of recurrence and found that loss of expression of CFTR was significantly associated with poor disease-free survival.

Psoriatic arthritis (PsA) is an inflammatory rheumatic disorder, associated with skin and/or nail psoriasis. It has been included in the spondyloarthropathies (SpA) group, with which it shares clinical, radiologic, and serologic features and familial and genetic relationship. Inclusion of disease among SpA is also based on their striking points of similarity for extra-articular manifestations (EAMs). The aim of study was to describe the EAMs in patients with PsA, evaluating the prevalence and clinical features associated with established and early PsA. The study was a retrospective analysis of case records of 387 PsA patients. Data recorded were demographic data, disease properties, laboratory tests, drug use, and presence of EAMs. Of 387 PsA patients, 190 have shown EAMs: 33.16 % had bowel involvement, 32.63 % ocular, 28.42 % cardiovascular, 25.79 % urogenital, 8.42 % skin (excluding psoriasis), 1.05 % pulmonary, and 0.53 % renal. A higher prevalence of EAMs was found in axial subset (p < 0.0001) and in established PsA patients (p = 0.03). The disease activity in PsA patients with EAMs was significantly higher (p < 0.0005). Smoker PsA patients had a significantly higher prevalence of EAMs than nonsmoker PsA patients (p < 0.0005). EAMs in PsA patients are common than expected and frequently associated with established form and axial subset. EAMs were more frequent in male gender, and the contemporary presence of male gender and axial subset showed a higher risk to develop EAMs. EAMS were more frequent in patients with a long disease duration and active disease. Moreover, these results suggest that in PsA patients, an initial checkup and a regular screening for EAMs are requested to ensure an appropriate management.

Our study shows a significantly higher prevalence of thyroid autoimmunity in patients with SpA as compared to controls. Thyroiditis occurs more frequently in patients with longer disease duration and active rheumatic disease. We suggest that thyroid function tests be part of the clinical evaluation in patients with SpA.

Patients with arthritis who need treatment with biologics are carefully screened for possible previous exposure to tuberculosis to detect any latent tubercular infection (LTBI). The traditional method of screening for LTBI is not specific, because positivity could also depend on infection by atypical mycobacteria and bacillus Calmette-Guerin vaccination. In addition, the screening does not show high sensitivity, frequently presenting a false negativity because of immunosuppression caused by drugs used for arthritis. Recently, interferon-γ release assays (IGRA) have been used to screen LTBI with more sensitivity and specificity before treatment with anti-tumor necrosis factor-α drugs. Moreover, in our experience, IGRA are potentially useful in monitoring LTBI during biologic therapy.

The evolution of dedicated magnetic resonance imaging (MRI) musculoskeletal equipment allows new sequences and better images of the nail unit. The use of MRI has modified the imaging strategies used in treating inflammatory arthritis. In the case of psoriatic arthritis (PsA), the MRI study of the nail unit identifies nail involvement, which appears as an initial lesion for the induction of distal phalanx damage and consequently of distal interphalangeal joint arthritis. All patients with psoriasis, even in the absence of a clinically evident onychopathy, show characteristic MRI changes in the nail. This evidence could have a practical diagnostic value, because MRI study of the nail could document diagnosis in patients with undifferentiated spondyloarthropathies who have a barely evident psoriasis. We discuss the advantages and problems related to the use of low-field and high-field MRI in the study of the nail unit of patients with PsA.