X-linked hyper-IgM syndrome with CD40LG mutation: Two case reports and literature review in Taiwanese patients

Hyper-IgM syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by elevated or normal serum IgM and decreased IgG, IgA, and IgE due to defective immunoglobulin class switching. X-linked HIGM (XHIGM, HIGM1) is the most frequent type, is caused by mutations in the CD40 ligand gene, and is regarded as a combined T and B immunodeficiency. We report an 18-year-old male who was diagnosed initially with hypogammaglobulinemia in infancy, but developed repeated pneumonia, sepsis, cellulitis, perianal abscess, pericarditis, and bronchiectasis despite regular intravenous immunoglobulin replacement therapy. The patient died at age 18 years due to pneumonia and tension pneumothorax. Mutation analysis revealed CD40L gene mutation within Exon 5 at nucleotide position 476 (cDNA 476G > A). This nonsense mutation predicted a tryptophan codon (TGG) change to a stop codon (TGA) at position 140 (W140X), preventing CD40L protein expression. Sequence analysis in the family confirmed a de novo mutation. The second case of 6-month-old male infant presented as Pneumocystis jiroveci pneumonia and acute respiratory distress syndrome. Gene analysis of the CD40L gene revealed G to C substitution in Intron 4 (c.409 + 5G > C) and mother was a carrier. Hematopoietic stem cell transplantation, the only cure for XHIGM, was arranged in the second case

Multiple Bony Injuries on Bone Scan in a Case of Unsuspected Child Abuse

This case is described of an eleven-month-old infant with lower limbs swelling and the left elbow skeletal malformation following a fall. The radionuclide bone scan was performed to exclude bone infection or congenital skeletal anomaly. The images unexpectedly showed multiple increased radioactive foci throughout the whole body. It was a strong probability of child abuse. All lesions are readily apparent on the following plain film radiographs and MRI

Taiwanese Dermatological Association consensus for the management of atopic dermatitis

AbstractBackground/ObjectiveThis report describes the 2014 consensus of the Taiwanese Dermatological Association (TDA) regarding the treatment of atopic dermatitis (AD). The TDA consensus is distributed to practices throughout Taiwan to provide recommendations for therapeutic approaches for AD patients to improve their quality of life.MethodsThe information in the consensus was agreed upon by a panel of national experts at TDA AD consensus meetings held on March 16, May 4, and June 29, 2014. The consensus was in part based on the 2013 Asia–Pacific AD guidelines and the guidelines of the American Academy of Dermatology, with modification to reflect the clinical practice in Taiwan.ResultsThe amendments were drafted after scientific discussions focused on the quality of evidence, risk, and benefits; all the consensus contents were voted on by the participating dermatologists, with approval by at least 75% for inclusion.ConclusionThe consensus provides a comprehensive overview of treatment for AD, with some local and cultural considerations for practitioners in Taiwan, especially the use of wet dressings/wraps, systemic immunomodulatory agents, and complementary therapies

Enteroscopic Diagnosis and Management of Small Bowel Diverticular Hemorrhage: A Multicenter Report from the Taiwan Association for the Study of Small Intestinal Diseases

Small bowel diverticulum is a rare cause of gastrointestinal bleeding. The diagnosis and treatment of small bowel diverticular hemorrhage is clinically challenging before the development of deep enteroscopy. In this multicenter study from the Taiwan Association for the Study of Small Intestinal Diseases (TASSID), 608 patients underwent deep enteroscopy for obscure gastrointestinal bleeding during January 2004 and April 2010 from eight medical centers in Taiwan. Small bowel diverticular hemorrhage account for 7.89% of obscure gastrointestinal bleeding in this study. Most of the patients received endoscopic therapy with an initial hemostasis rate of 85.71% and rebleeding rate of 20%. In this large case series investigating the enteroscopic management of small intestinal diverticular hemorrhage, we found that, as to patients with peptic ulcer hemorrhage, most of these patients can be successfully managed by endoscopic therapy before surgery in the era of deep enteroscopy

Improvement of Carbon Tetrachloride-Induced Acute Hepatic Failure by Transplantation of Induced Pluripotent Stem Cells without Reprogramming Factor c-Myc

The only curative treatment for hepatic failure is liver transplantation. Unfortunately, this treatment has several major limitations, as for example donor organ shortage. A previous report demonstrated that transplantation of induced pluripotent stem cells without reprogramming factor c-Myc (3-genes iPSCs) attenuates thioacetamide-induced hepatic failure with minimal incidence of tumorigenicity. In this study, we investigated whether 3-genes iPSC transplantation is capable of rescuing carbon tetrachloride (CCl4)-induced fulminant hepatic failure and hepatic encephalopathy in mice. Firstly, we demonstrated that 3-genes iPSCs possess the capacity to differentiate into hepatocyte-like cells (iPSC-Heps) that exhibit biological functions and express various hepatic specific markers. 3-genes iPSCs also exhibited several antioxidant enzymes that prevented CCl4-induced reactive oxygen species production and cell death. Intraperitoneal transplantation of either 3-genes iPSCs or 3-genes iPSC-Heps significantly reduced hepatic necrotic areas, improved hepatic functions, and survival rate in CCl4-treated mice. CCl4-induced hepatic encephalopathy was also improved by 3-genes iPSC transplantation. Hoechst staining confirmed the successful engraftment of both 3-genes iPSCs and 3-genes iPSC-Heps, indicating the homing properties of these cells. The most pronounced hepatoprotective effect of iPSCs appeared to originate from the highest antioxidant activity of 3-gene iPSCs among all transplanted cells. In summary, our findings demonstrated that 3-genes iPSCs serve as an available cell source for the treatment of an experimental model of acute liver diseases

Electromagnetic Wave Theory and Applications

Contains table of contents for Section 3 and reports on seven research projects.Joint Services Electronics Program Contract DAAL03-89-C-0001National Science Foundation Contract ECS 86-20029Schlumberger- Doll ResearchU.S. Army Research Office Contract DAAL03 88-K-0057National Aeronautics and Space Administration Contract NAGW-1617U.S. Navy - Office of Naval Research Contract N00014-89-J-1107National Aeronautics and Space Administration Contract NAGW-1272National Aeronautics and Space Administration Contract 958461Simulation Technologies Contract DAAH01-87-C-0679U.S. Army Corp of Engineers Contract DACA39-87-K-0022WaveTracer, Inc.U.S. Navy - Office of Naval Research Contract N00014-89-J-1019U.S. Air Force Systems - Electronic Systems Division Contract F19628-88-K-0013Digital Equipment CorporationInternational Business Machines CorporationU.S. Department of Transportation Contract DTRS-57-88-C-0007

Electromagnetic Wave Theory and Applications

Contains table of contents for Section 3, reports on six research projects and a list of publications and conference papers.Joint Services Electronics Program Contract DAAL03-89-C-0001National Science Foundation Grant ECS 86-20029Schlumberger- Doll ResearchU.S. Army Research Office Contract DAAL03 88-K-0057U.S. Navy - Office of Naval Research Contract N00014-90-J-1002National Aeronautics and Space Administration Grant NAGW-1617U.S. Navy - Office of Naval Research Grant N00014-89-J-1107National Aeronautics and Space Administration Grant NAGW-1272National Aeronautics and Space Administration Agreement 958461U.S. Army - Corps of Engineers Contract DACA39-87-K-0022U.S. Air Force - Electronic Systems Division Contract F19628-88-K-0013U.S. Navy - Office of Naval Research Grant N00014-89-J-1019Digital Equipment CorporationIBM CorporationU.S. Department of Transportation Contract DTRS-57-88-C-00078Defence Advanced Research Projects Agency Contract MDA972-90-C-002

NF-κB Hyper-Activation by HTLV-1 Tax Induces Cellular Senescence, but Can Be Alleviated by the Viral Anti-Sense Protein HBZ

Activation of I-κB kinases (IKKs) and NF-κB by the human T lymphotropic virus type 1 (HTLV-1) trans-activator/oncoprotein, Tax, is thought to promote cell proliferation and transformation. Paradoxically, expression of Tax in most cells leads to drastic up-regulation of cyclin-dependent kinase inhibitors, p21CIP1/WAF1 and p27KIP1, which cause p53-/pRb-independent cellular senescence. Here we demonstrate that p21CIP1/WAF1-/p27KIP1-mediated senescence constitutes a checkpoint against IKK/NF-κB hyper-activation. Senescence induced by Tax in HeLa cells is attenuated by mutations in Tax that reduce IKK/NF-κB activation and prevented by blocking NF-κB using a degradation-resistant mutant of I-κBα despite constitutive IKK activation. Small hairpin RNA-mediated knockdown indicates that RelA induces this senescence program by acting upstream of the anaphase promoting complex and RelB to stabilize p27KIP1 protein and p21CIP1/WAF1 mRNA respectively. Finally, we show that down-regulation of NF-κB by the HTLV-1 anti-sense protein, HBZ, delay or prevent the onset of Tax-induced senescence. We propose that the balance between Tax and HBZ expression determines the outcome of HTLV-1 infection. Robust HTLV-1 replication and elevated Tax expression drive IKK/NF-κB hyper-activation and trigger senescence. HBZ, however, modulates Tax-mediated viral replication and NF-κB activation, thus allowing HTLV-1-infected cells to proliferate, persist, and evolve. Finally, inactivation of the senescence checkpoint can facilitate persistent NF-κB activation and leukemogenesis

Women with endometriosis have higher comorbidities: Analysis of domestic data in Taiwan

AbstractEndometriosis, defined by the presence of viable extrauterine endometrial glands and stroma, can grow or bleed cyclically, and possesses characteristics including a destructive, invasive, and metastatic nature. Since endometriosis may result in pelvic inflammation, adhesion, chronic pain, and infertility, and can progress to biologically malignant tumors, it is a long-term major health issue in women of reproductive age. In this review, we analyze the Taiwan domestic research addressing associations between endometriosis and other diseases. Concerning malignant tumors, we identified four studies on the links between endometriosis and ovarian cancer, one on breast cancer, two on endometrial cancer, one on colorectal cancer, and one on other malignancies, as well as one on associations between endometriosis and irritable bowel syndrome, one on links with migraine headache, three on links with pelvic inflammatory diseases, four on links with infertility, four on links with obesity, four on links with chronic liver disease, four on links with rheumatoid arthritis, four on links with chronic renal disease, five on links with diabetes mellitus, and five on links with cardiovascular diseases (hypertension, hyperlipidemia, etc.). The data available to date support that women with endometriosis might be at risk of some chronic illnesses and certain malignancies, although we consider the evidence for some comorbidities to be of low quality, for example, the association between colon cancer and adenomyosis/endometriosis. We still believe that the risk of comorbidity might be higher in women with endometriosis than that we supposed before. More research is needed to determine whether women with endometriosis are really at risk of these comorbidities

Deep Eutectic Solvents (DESs) and their applications [forthcoming]

Deep Eutectic Solvents (DESs) and Their Application