Background: Copy number variations (CNVs) play an important role in human genetic disorders. Detection of exon-level CNVs is crucial for accurate clinical diagnosis. The CytoScan XON Array, a high-resolution microarray, was recently developed to detect exonic CNVs of various genes. Methods: We evaluated the clinical performance of the CytoScan XON Array using 59 patient samples with previously identified CNVs, confirmed via methods including multiple ligation-dependent probe amplification (MLPA), gene-dose PCR, and mRNA assay. Concordance between CytoScan XON and orthogonal methods was evaluated in target regions, and diagnostic utility was compared with that of genome sequencing (GS)-based CNV calling tools through analysis of false-positive CNVs in non-target genomic regions. Results: For target regions, the CytoScan XON Array achieved concordance rates of 89.8% and 92.5% at the exon and gene levels, respectively, for all CNV calls. Concordance was higher for multi-exon CNVs (100%) than that for single-exon CNVs (82.6%, P = 0.03). For non-target regions, false-positive CNV calls were reduced to fewer than 0.01 per gene per person through filtering strategies. The array exhibited false-positive detection rates within dosage-sensitive genes comparable with those of GS-based tools. Conclusions The CytoScan XON Array, a reliable tool for detecting exon-level CNVs in target regions, can serve as a complementary approach to GS-based CNV calling tools for genome-wide CNV screening with high resolution. However, its performance for single-exon CNVs requires further optimization. Cross-validation with GS-based CNV calling tools is recommended to improve diagnostic accuracy.

Two Domestic Korean Shorthair cats presented with dyschezia and vomiting. Computed tomography revealed a colonic mass with calcification and lymph node metastasis in case 1, and a small intestinal mass with disseminated mesenteric metastasis and calcification in case 2. Histopathology revealed intestinal adenocarcinoma with osseous metaplasia. Case 1 died two months after surgery from distant metastasis; and case 2 showed no metastasis for five months but presented with anorexia, euthanized seven months after diagnosis. Metastatic intestinal adenocarcinoma with bone formation should be considered as differential diagnosis for calcification on imaging, and lymph node metastasis at diagnosis may indicate poor prognosis.

Purpose: Gastric delta cells (D-cells), which are somatostatin-secreting cells, are the main paracrine inhibitor of acid secretion. The number of D-cells was studied in children presenting with upper gastrointestinal (UGI) disease. Methods: We retrospectively investigated the number of D-cells in the gastric body and antrum through immunofluorescence examinations according to symptoms, endoscopic findings, and Helicobacter pylori infection in 75 children who visited Hanyang University Hospital Pediatrics. Results: The mean patient age was 12.2±3.3 years. The male-to-female ratio was 1:1.4. The mean D-cell number per high-power field in the antrum and body was 20.5 and 12 in children with substernal pain, 18.3 and 10.3 in vomiting, 22.3 and 6 in diarrhea, and 9.3 and 6 in abdominal pain, respectively (p>0.05). According to endoscopic findings, the mean D-cell number in the antrum and body was 14.3 and 6 with gastritis, 14 and 9.3 with reflux esophagitis, 16.7 and 8.7 with duodeno-gastric reflux, 19.3 and 12.7 with gastric ulcer, 16 and 13.7 with duodenitis, and 12.3 and 4 with duodenal ulcer, respectively (p>0.05). The D-cell number in the gastric body was 2.7 and 8.7 in children with current H. pylori infection and non-infected children, respectively (p=0.01), while those in the antrum were 15.5 and 14, respectively, with no statistical significance. Conclusion The D-cell number was lower in the gastric body of children with current H. pylori infection. Further studies concerning peptide-secreting cells with a control group would provide information about the pathogenic pathways of UGI disorder.

BACKGROUND: BRCA1-associated protein 1 (BAP1) mutations are frequently reported in clear cell renal cell carcinoma (ccRCC); however, very few studies have evaluated the role of these mutations in other renal cell carcinoma (RCC) subtypes. Therefore, we analyzed BAP1 protein expression using immunohistochemistry in several RCC subtypes and assessed its relationship with clinicopathological characteristics of patients. METHODS: BAP1 expression was immunohistochemically evaluated in tissue microarray blocks constructed from 371 samples of RCC collected from two medical institutions. BAP1 expression was evaluated based on the extent of nuclear staining in tumor cells, and no expression or expression in < 10% of tumor cells was defined as negative. RESULTS: Loss of BAP1 expression was observed in ccRCC (56/300, 18.7%), chromophobe RCC (6/26, 23.1%), and clear cell papillary RCC (1/4, 25%), while we failed to detect BAP1 expression loss in papillary RCC, acquired cystic disease-associated RCC, or collecting duct carcinoma. In ccRCC, loss of BAP1 expression was significantly associated with high World Health Organization (WHO)/International Society of Urological Pathology (ISUP) grade (p = .002); however, no significant correlation was observed between loss of BAP1 expression and survival in ccRCC. Loss of BAP1 expression showed no association with prognostic factors in chromophobe RCC. CONCLUSIONS: Loss of BAP1 nuclear expression was observed in both ccRCC and chromophobe RCC. In addition, BAP1 expression loss was associated with poor prognostic factors such as high WHO/ISUP grade in ccRCC.
Carcinoma, Renal Cell ; Humans ; Immunohistochemistry ; Pathology ; World Health Organization

The association between vitamin D levels and nonalcoholic fatty liver disease (NAFLD) has been recognized. However, few studies showed independent associations between vitamin D deficiency and NAFLD after a sex-related adjustment for metabolic factors. We aimed to study whether vitamin D deficiency is an independent risk factor of NAFLD even after controlling for metabolic syndrome and visceral fat in both sexes. In this cross-sectional study, 7,514 Korean adults (5,278 men, 2,236 women) participated in a health check-up program. They underwent blood tests, abdominal computed tomography (CT) of the visceral fat area, and ultrasonography for NAFLD screening. Multiple logistic regression analysis was used to investigate the association of vitamin D deficiency with NAFLD according to the sex differences. Vitamin D deficiency is associated with NAFLD. The adjusted odds ratio (aOR) for NAFLD increased sequentially with decreasing vitamin D level, even after adjusting for metabolic syndrome and visceral fat. The subjects in the vitamin D sufficiency group (20–30 ng/mL) had an aOR for NAFLD of 1.18 (95% CI, 1.00–1.39), whereas the deficiency group (< 20 ng/mL) had an aOR of 1.29 (95% CI, 1.10–1.52). However, we have detected a significant sex-related interaction when analyzing the results. A significant relationship between vitamin D deficiency and NAFLD was found in men (aOR, 1.33; 95% CI, 1.11–1.60) but not in women.
Adult ; Cross-Sectional Studies ; Female ; Hematologic Tests ; Humans ; Intra-Abdominal Fat ; Logistic Models ; Male ; Mass Screening ; Metabolic Syndrome X ; Non-alcoholic Fatty Liver Disease* ; Odds Ratio ; Risk Factors* ; Sex Characteristics ; Ultrasonography ; Vitamin D Deficiency ; Vitamin D* ; Vitamins*

No abstract available.
Humans ; Lymphedema*

No abstract available.
Osteochondroma*