Novel LMNA Gene Mutation in a Patient With Atypical Werner's Syndrome

Hutchinson-Gilford progeria syndrome (HGPS) and Werner's syndrome are representative types of progeroid syndrome. LMNA (Lamin A/C) gene mutation with atypical Werner's syndrome have recently been reported. Atypical Werner's syndrome with the severe metabolic complications, the extent of the lipodystrophy is associated with A133L mutation in the LMNA gene and these patients present with phenotypically heterogeneous disorders. We experienced a 15-yr-old Korean female with progeroid features, generalized lipodystrophy, hypertriglyceridemia, fatty liver, steatohepatitis, and type 2 diabetes mellitus. Skin fibroblasts from the patient showed marked abnormal nuclear morphology, compared with that from normal persons. Gene analysis revealed that this patient had T506del of exon 2 in the LMNA gene. We report here the first case of atypical Werner's syndrome with frameshift mutation that was caused by T506del

Thermal analysis of bulk filled composite resin polymerization using various light curing modes according to the curing depth and approximation to the cavity wall

OBJECTIVE: The purpose of this study was to investigate the polymerization temperature of a bulk filled composite resin light-activated with various light curing modes using infrared thermography according to the curing depth and approximation to the cavity wall. MATERIAL AND METHODS: Composite resin (AeliteFlo, Bisco, Schaumburg, IL, USA) was inserted into a Class II cavity prepared in the Teflon blocks and was cured with a LED light curing unit (Dr's Light, GoodDoctors Co., Seoul, Korea) using various light curing modes for 20 s. Polymerization temperature was measured with an infrared thermographic camera (Thermovision 900 SW/TE, Agema Infra-red Systems AB, Danderyd, Sweden) for 40 s at measurement spots adjacent to the cavity wall and in the middle of the cavity from the surface to a 4 mm depth. Data were analyzed according to the light curing modes with one-way ANOVA, and according to curing depth and approximation to the cavity wall with two-way ANOVA. RESULTS: The peak polymerization temperature of the composite resin was not affected by the light curing modes. According to the curing depth, the peak polymerization temperature at the depth of 1 mm to 3 mm was significantly higher than that at the depth of 4 mm, and on the surface. The peak polymerization temperature of the spots in the middle of the cavity was higher than that measured in spots adjacent to the cavity wall. CONCLUSION: In the photopolymerization of the composite resin, the temperature was higher in the middle of the cavity compared to the outer surface or at the internal walls of the prepared cavity

Protects Porcine Intestinal Barrier from Deoxynivalenol via Improved Zonula Occludens-1 Expression

Intestinal epithelial cells (IECs) forming the barrier for the first-line of protection are interconnected by tight junction (TJ) proteins. TJ alteration results in impaired barrier function, which causes potentially excessive inflammation leading to intestinal disorders. It has been suggested that toll-like receptor (TLR) 2 ligands and some bacteria enhance epithelial barrier function in humans and mice. However, no such study has yet to be claimed in swine. The aim of the present study was to examine whether Bacillus subtilis could improve barrier integrity and protection against deoxynivalenol (DON)-induced barrier disruption in porcine intestinal epithelial cell line (IPEC-J2). We found that B. subtilis decreased permeability of TJ and improved the expression of zonula occludens (ZO)-1 and occludin during the process of forming TJ. In addition, ZO-1 expression of IPEC-J2 cells treated with B. subtilis was up-regulated against DON-induced damage. In conclusion, B. subtilis may have potential to enhance epithelial barrier function and to prevent the cells from DON-induced barrier dysfunction

Autoimmune Hypoglycemia in a Patient with Characterization of Insulin Receptor Autoantibodies

BackgroundType B insulin resistance syndrome is a manifestation of autoantibodies to the insulin receptor that results in severe hyperglycemia and acanthosis nigricans. However, the mechanisms by which these autoantibodies induce hypoglycemia are largely unknown. In this paper, we report the case of patient with type B insulin resistance syndrome who presented with frequent severe fasting hypoglycemia and acanthosis nigricans.MethodsTo evaluate the mechanism of hypoglycemia, we measured the inhibition of insulin binding to erythrocytes and IM9 lymphocytes in a sample of the patient's dialyzed serum before and after immunosuppressive therapy.ResultsIn the patient's pre-treatment serum IgG, the binding of 125I-insulin to erythrocytes was markedly inhibited in a dose-dependent manner until the cold insulin level reached 10-9 mol/L. We also observed dose-dependent inhibition of insulin binding to IM9 lymphocytes, which reached approximately 82% inhibition and persisted even when diluted 1:20. After treatment with glucocorticoids, insulin-erythrocyte binding activity returned to between 70% and 80% of normal, while the inhibition of insulin-lymphocyte binding was reduced by 17%.ConclusionWe treated a patient with type B insulin resistance syndrome showing recurrent fasting hypoglycemia with steroids and azathioprine. We characterized the patient's insulin receptor antibodies by measuring the inhibition of insulin binding

Deep learning for prediction of mechanism in acute ischemic stroke using brain diffusion magnetic resonance image

Background Acute ischemic stroke is a disease with multiple etiologies. Therefore, identifying the mechanism of acute ischemic stroke is fundamental to its treatment and secondary prevention. The Trial of Org 10172 in Acute Stroke Treatment classification is currently the most widely used system, but it often has a limitations of classifying unknown causes and inadequate inter-rater reliability. Therefore, we attempted to develop a three-dimensional (3D)-convolutional neural network (CNN)-based algorithm for stroke lesion segmentation and subtype classification using only the diffusion and apparent diffusion coefficient information of patients with acute ischemic stroke. Methods This study included 2,251 patients with acute ischemic stroke who visited our hospital between February 2013 and July 2019. Results The segmentation model for lesion segmentation in the training set achieved a Dice score of 0.843±0.009. The subtype classification model achieved an average accuracy of 81.9%, with accuracies of 81.6% for large artery atherosclerosis, 86.8% for cardioembolism, 72.9% for small vessel occlusion, and 86.3% for control. Conclusion We developed a model to predict the mechanism of cerebral infarction using diffusion magnetic resonance imaging, which has great potential for identifying diffusion lesion segmentation and stroke subtype classification. As deep learning systems are gradually developing, they are becoming useful in clinical practice and applications

Changes in the Reflux Symptom Index After Multilevel Surgery for Obstructive Sleep Apnea

Objectives This study evaluated whether the symptoms of laryngopharyngeal reflux (LPR) change after multilevel surgery for obstructive sleep apnea (OSA). Methods Patients who underwent multilevel surgery for OSA between April 2009 and September 2014 were enrolled in this study. All patients underwent preoperative polysomnography prior to surgery and were asked to complete the reflux symptom index (RSI) questionnaire before and after surgery. Results Of 73 enrolled patients, 24 (33%) reported an RSI score >13 and were thus classified as having reflux. The mean RSI score before surgery was 11.48±7.95; this number decreased to 4.95±6.19 after surgery (P<0.001). The rate of positive RSI responses was 33% before surgery and 9% after surgery. Each variable that comprised the RSI improved significantly after surgery, except for difficulty with swallowing. Regarding the degree of RSI improvement after surgery, there were no significant differences between subgroups according to sex, age, body mass index, OSA severity, or surgical outcome. Conclusion LPR symptoms are prevalent in OSA patients. Treatment for OSA using multilevel surgery potentially reduces the symptoms of LPR

Successful pleurodesis with OK-432 in preterm infants with persistent pleural effusion

OK-432 (picibanil) is an inactivated preparation of Streptococcus pyogenes that causes pleurodesis by inducing a strong inflammatory response. Intrapleural instillation of OK-432 has recently been used to successfully treat neonatal and fetal chylothorax. Here we report a trial of intrapleural instillation of OK-432 in two preterm infants who were born with hydrops fetalis and massive bilateral pleural effusion. Both cases showed persistent pleural effusion, refractory to conservative treatment, up to postnatal days 26 and 46, respectively. An average of 80 to 140 mL of pleural fluid was drained daily. In case 1, the infant was treated with OK-432 during the fetal period at gestation 28 weeks and 4 days of gestation, but showed recurrence of pleural effusion and progressed into hydrops. Within two to three days after OK-432 injection, the amount of pleural fluid drainage was dramatically decreased and there was no reaccumulation. We did not observe any side effects related to OK-432 injection. We suggest that OK-432 should be considered as a therapeutic option in infants who have persistent pleural effusion for more than four weeks, with the expectation of the early removal of the chest tube and a good outcome