The diagnosis of spondyloarthritis (SpA) has a lengthy delay; we investigated the outcomes and factors associated with the delayed diagnosis of SpA. This was a cross-sectional study on patients with SpA who visited a rheumatology clinic at a single tertiary centre. The data were collected from face-to-face interviews, physician assessments of disease status and reviews of medical records. In total, 105 patients with SpA were consecutively enrolled. Of the included patients, 94 had axial SpA and 11 had peripheral SpA. The median diagnostic delay was 8 years (interquartile range, 3-14) for axial SpA. Comparisons between the early and late diagnosis groups were performed to identify the factors related to delayed diagnosis in axial SpA. A definite diagnosis of SpA led to proper management and clinical improvements. The patients with delayed diagnosis showed worse outcomes in disease activity, function, spinal mobility and/or radiographic damage. These patients also demonstrated a less favourable treatment response according to the Bath Ankylosing Spondylitis Disease Activity Index and the rate of radiographic progression. Multivariate analysis indicated that a prior diagnosis of mechanical back pain was an independent factor associated with diagnostic delay. The diagnosis of SpA is often delayed. Delayed diagnosis is associated with worse outcomes and poor treatment responses in SpA patients. Physician and patient awareness of inflammatory back pain are essential for the early diagnosis of SpA, and a referral guideline for patients with suspected SpA is needed.

Background/Aims Colorectal cancer (CRC) screening using stool DNA was recently found to yield good detection rates. A multi-target stool DNA test (Cologuard®, Exact Sciences), including methylated genes has been recently approved by the U.S. Food and Drug Administration. The aim of this study was to validate these aberrantly methylated genes as stool-based DNA markers for detecting CRC and colorectal advanced adenoma (AA) in the Korean population. Methods A single-center study was conducted in 36 patients with AA; 35 patients with CRC; and 40 endoscopically diagnosed healthy controls using CRC screening colonoscopy. The methylation status of the SFRP2 , TFPI2 , NDRG4 , and BMP3 promoters was investigated blindly using bisulfate-modified stool DNA obtained from 111 participants. Methylation status was investigated by methylation-specific polymerase chain reaction. Results Methylated SFRP2 , TFPI2 , NDRG4 , and BMP3 promoters were detected in 60.0%, 31.4%, 68.8%, and 40.0% of CRC samples and in 27.8%, 27.8%, 27.8%, and 33.3% of AA samples, respectively. The sensitivities obtained using 4 markers to detect CRC and AA were 94.3% and 72.2%, respectively. The specificity was 55.0%. Conclusions Our results demonstrate that the SFRP2 , TFPI2 , NDRG4 , and BMP3 promoter methylation analysis of stool sample DNA showed high sensitivity but low specificity for detecting CRC and AA. Because of the low specificity, 4 methylated markers might not be sufficient for CRC screening in the Korean population. Further large-scale studies are required to validate the methylation of these markers in the Asian population and to find new markers for the Asian population.

Over 60 activating mutations in the CASR gene have been identified to cause ADH so far. Here, we add one more activating mutation that causes ADH. The novel activating mutation (D410E) occurred in the loop 3 region of CASR, where its function was believed to be of little importance; therefore, this mutation may be of interest. Further clinical study will be needed to validate the effectiveness of calcilytics in treatment of ADH in vivo.

AIMTo evaluate the short health scale (SHS), a new, simple, four-part visual analogue scale questionnaire that is designed to assess the impact of inflammatory bowel disease (IBD) on health-related quality of life (HRQOL), in Korean-speaking patients with IBD.METHODSThe SHS was completed by 256 patients with Crohn’s disease (CD) and ulcerative colitis (UC). Individual SHS items were correlated with inflammatory bowel disease questionnaire (IBDQ) dimensions and with disease activity to assess validity. Test-retest reliability, responsiveness and patient or disease characteristics with probable association with high SHS scores were analyzed.RESULTSOf 256 patients with IBD, 139 (54.3%) had UC and 117 (45.7%) had CD. The correlation coefficients between SHS questions about “symptom burden”, “activities of daily living”, and “disease-related worry” and their corresponding dimensions in the IBDQ ranged from 0.62 to 0.71, compared with correlation coefficients ranging from -0.45 to -0.61 for their non-corresponding dimensions. There was a stepwise increase in SHS scores, with increasing disease activity in both CD and UC (all P values < 0.001). Reliability was confirmed with test-retest correlations ranging from 0.68 to 0.90 (all P values < 0.001). Responsiveness was confirmed with the patients who remained in remission. Their SHS scores remained unchanged, except for the SHS dimension “disease-related worry”. In the multivariate analysis, female sex was associated with worse “general well-being” (OR = 2.28, 95%CI: 1.02-5.08) along with worse disease activity.CONCLUSIONThe SHS is a valid and reliable measure of HRQOL in Korean-speaking patients with IBD.