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Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare disease characterized by hyperphosphatemia and ectopic calcification, predominantly at periarticular locations. This study was performed to characterize the clinical profile of tumoral calcinosis and to identify gene mutations associated with HFTC and elucidated its pathogenic role.The three subjects (two male and one female) were aged 30, 25 and 15 years, respectively. The clinical features, histopathological findings, and outcomes of three subjects with HFTC were retrospectively reviewed. The three subjects were analyzed forAll subjects had hyperphosphatemia and elevated calcium-phosphorus product. Calcinosis positions included the left shoulder, left index finger, and right hip. Bone and joint damage were present in two cases and multiple foci influenced body growth in one case. The histopathological features were firm, rubbery masses comprising multiple nodules of calcified material bordered by the proliferation of mononuclear or multinuclear macrophages, osteoclastic-like giant cells, fibroblasts, and chronic inflammatory cells. The novel mutation c.484AG (p.N162D) in exon 3 ofWe identified a novel

Background: Venous thromboembolism (VTE) is a significant complication after joint arthroplasty. Diabetes is related to a few changes in coagulation and fibrinolysis that may lead to thrombophilia. We aim to investigate the incidence of and risk factors for VTEs in patients with diabetes undergoing total hip (THA) or total knee anthroplasty (TKA) in a single centre in China. Methods: Patients with diabetes who underwent THA or TKA from January 2016 to December 2018 (n=400) at Beijing Jishuitan Hospital were recruited in this study. Lower limb venous Doppler ultrasound was performed before and after surgery to confirm deep venous thrombosis (DVT). Computer tomography pulmonary angiography was done to confirm pulmonary embolism (PE) for those with new postoperative DVT and typical symptoms of PE. A multivariate logistic regression model was conducted to examine factors associated with the development of postoperative VTE. Results: The overall incidence of postoperative VTE in patients with diabetes after THA or TKA was 46.8% (187 of 400). Female patients and patients undergoing TKA had higher incidence of postoperative VTE. Patients who developed postoperative VTE were older, and had higher levels of preoperative D-Dimer level and Caprini score. Increased VTE risks were associated with high level of preoperative D-Dimer (OR=2.11, 95%CI=1.35-3.30) and TKA (OR=2.29, 95%CI=1.29-4.01). Postoperative initiation of concomitant mechanical prophylaxis and low molecular weight heparin (LMWH) was protective for postoperative DVT (OR=0.56, 95%CI=0.37-0.86). Conclusions: VTE is common in patients with diabetes undergoing joint arthroplasty. Patients undergoing TKA or with a high level of preoperative D-Dimer are at a considerable risk of developing postoperative VTE. There may be a protective role of postoperative initiation of concomitant mechanical prophylaxis and LMWH for VTE.

// Fang Fang 1 , Qingyao Zuo 2 , Jay Pilrose 1 , Yinu Wang 1 , Changyu Shen 3,4 , Meng Li 5 , Phillip Wulfridge 1 , Daniela Matei 6,7,8,9 , Kenneth P. Nephew 1,6,8,10 1 Medical Sciences, Indiana University School of Medicine, Bloomington, IN, USA 2 Department of Endocrinology, Beijing Jishuitan Hospital, Beijing, P.R. China 3 Department of Biostatistics, Indiana University, Indianapolis, IN, USA 4 Computational Biology & Bioinformatics, Indiana University, Indianapolis, IN, USA 5 Norris Medical Library, University of Southern California, Los Angeles, CA, USA 6 Indiana University Melvin and Bren Simon Cancer Center, Indianapolis, IN, USA 7 VA Roudebush Hospital, Indianapolis, IN, USA 8 Department of Obstetrics and Gynecology 9 Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA 10 Department of Cellular and Integrative Physiology, Indiana University School of Medicine, Indianapolis, IN, USA Correspondence: Fang Fang, email: // Daniela Matei, email: // Kenneth P. Nephew, email: // Keywords : platinum resistant ovarian cancer, decitabine, gene expression, chemosensitization, DNA methylation, pathway analysis Received : March 10, 2014 Accepted: May 12, 2014 Published: May 13, 2014 Abstract Combination therapy with decitabine, a DNMTi and carboplatin resensitized chemoresistant ovarian cancer (OC) to platinum inducing promising clinical activity. We investigated gene-expression profiles in tumor biopsies to identify decitabine-reactivated pathways associated with clinical response. Gene-expression profiling was performed using RNA from paired tumor biopsies before and 8 days after decitabine from 17 patients with platinum resistant OC. Bioinformatic analysis included unsupervised hierarchical-clustering, pathway and GSEA distinguishing profiles of “responders” (progression-free survival, PFS>6months) and “non-responders” (PFS