Vascular Ehlers-Danlos Syndrome Without the Characteristic Facial Features: A Case Report

As a type of Ehlers-Danlos syndrome (EDS), vascular EDs (vEDS) is typified by a number of characteristic facial features (eg, large eyes, small chin, sunken cheeks, thin nose and lips, lobeless ears). However, vEDs does not typically display hypermobility of the large joints and skin hyperextensibility, which are features typical of the more common forms of EDS. Thus, colonic perforation or aneurysm rupture may be the first presentation of the disease. Because both complications are associated with a reduced life expectancy for individuals with this condition, an awareness of the clinical features of vEDS is important.Here, we describe the treatment of vEDS lacking the characteristic facial attributes in a 24-year-old healthy man who presented to the emergency room with abdominal pain. Enhanced computed tomography revealed diverticula and perforation in the sigmoid colon. The lesion of the sigmoid colon perforation was removed, and Hartmann procedure was performed. During the surgery, the control of bleeding was required because of vascular fragility. Subsequent molecular and genetic analysis was performed based on the suspected diagnosis of vEDS. These analyses revealed reduced type III collagen synthesis in cultured skin fibroblasts and identified a previously undocumented mutation in the gene for a1 type III collagen, confirming the diagnosis of vEDS. After eliciting a detailed medical profile, we learned his mother had a history of extensive bruising since childhood and idiopathic hematothorax. Both were prescribed oral celiprolol. One year after admission, the patient was free of recurrent perforation.This case illustrates an awareness of the clinical characteristics of vEDS and the family history is important because of the high mortality from this condition even in young people. Importantly, genetic assays could help in determining the surgical procedure and offer benefits to relatives since this condition is inherited in an autosomal dominant manner.     

Early cytotoxic lymphocyte expansion contributes to a deep molecular response to dasatinib in patients with newly diagnosed chronic myeloid leukemia in the chronic phase: results of the D‐first study

Dasatinib is one of the key treatment options for chronic myeloid leukemia (CML) patients. Increase in lymphocyte counts has been known to be predictive of a good treatment response under dasatinib treatment as a second line therapy. However, clinical significance of lymphocyte dynamics in the upfront setting has yet to be clarified. To investigate the significance of lymphocyte dynamics in newly diagnosed chronic phase (CP)‐CML, patient data of D‐First study ( ClinicalTrials.gov NCT01464411) were analyzed. Fifty‐two CML‐CP patients enrolled to this study were treated with dasatinib (100 mg day^?1) and all were followed‐up for 18 months. The incidence of lymphocyosis was observed in 14 (27%), but it was not associated with deep molecular response achievement. However, natural killer (NK) cell or cytotoxic T lymphocyte (CTL) counts at 1 month were significantly higher in patients with deep molecular response (DMR) by 18 months compared to those without DMR. When the patients were divided into two groups according to those calculated thresholds by receiver operating characteristic curve (407/μL for NK cells and 347/μL for CTLs), the cumulative DMR rates by 18 months were significantly better in higher value group compared to lower value group. In contrast, regulatory T cell counts were significantly lower at 12 and 15 months in patients achieved DMR. These results suggest the presence of dual effects of dasatinib on immune system through the cytotoxic lymphocytes activation and Treg deregulation in different periods in newly diagnosed CML‐CP. Am. J. Hematol. 90:819–824, 2015. © 2015 Wiley Periodicals, Inc.     

Hyperdynamic circulation in the left gastric venous area in patients with portal hypertension: Angiological assessment

The time of appearance of the left gastric vein on serial celiac arteriograms in patients with portal hypertension and esophageal varices was compared with that of the portal vein to assess regional hemodynamics in the left venous portion of the stomach, an area located in close proximity to the varices. In two thirds of all the patients with cirrhosis or non-cirrhotic idiopathic portal hypertension (IPH), the left gastric vein was visualized earlier or simultaneously than or with the portal vein, while in all but one patient with prehepatic portal obstruction, there was a delayed opacification of the left gastric vein. These results suggest the presence of a hyperdynamic circulatory state which promotes venous hypertension in the left gastric venous area of the stomach of a considerable number of patients with cirrhosis or IPH. In such a hemodynamic state, selective decompression of varices can be achieved by a left gastric venous caval shunt.     

Transthoracic cardiectomy with infraesophago-supragastric devascularization for bleeding esophageal varices.

Based on the thoughts that transthoracic approaches give less load to liver than transabdominal ones, and that effectiveness for bleeding esophageal varices is secured by cardiectomy with complete devascularization of lower esophagus and upper stomach, a new operative procedure for esophageal varices is described which is more safely applicable to the risky patients. Twenty cases with portal hypertension were operated, including eight cirrhotic patients with severe hepatic dysfunction, six cases of emergency bleeding and six reoperated cases. No operative death was encountered, but three cirrhotic patients died during the late follow up period. The remaining 17 patients had uneventful postoperative courses without recurrence esophageal bleeding during 20 months follow up period. Thus this operation may eliminate the shortcoming of previous operative methods for portal hypertension.     

The selective shunt for variceal bleeding: a personal perspective

It has been proved that selective decompression of esophageal varices can occur by way of the left gastric venous route or the transsplenic route. The left gastric venacaval shunt functions well over a long postoperative period, if the shunt is technically satisfactory; however, the distal splenorenal shunt (DSRS) can be problematic. Unless the proximal and distal portions of the splenic vein are both entirely isolated from the pancreas, blood flow will be diverted from the portal vein to the distal splenic vein, where the pressure has been lowered by the shunt. This portal malcirculation may lead to portal thrombosis or stenosis on occasion. To prevent this adverse effect, complete isolation of the splenic vein (splenopancreatic disconnection) is necessary. Extensive gastric disconnection is irrelevant in this regard. Although the conventional DSRS has been viewed with disfavor, we must realize that splenopancreatic disconnection makes the DSRS a satisfactory technique. The clinical evidence and theoretic basis of the selective shunt for esophageal varices are described herein.     

Establishment of a near-triploid human B-cell lymphoma cell line with t(14;18) and a p53 gene point mutation

We report a rare large B-cell non-Hodgkin's lymphoma having a characteristic near-triploid cell population with add(17)(p22) and t(14;18)(q32;q21) translocation. We also established and characterized a new cell line (TK cell) derived from the present lymphoma. A codon 180 mutation (GAG --> GAT) in the p53 gene was detected. t(14;18)(q32;q21) was revealed juxtaposition of the bcl-2 and JH genes. Immunoprecipitation analyses of p53 and bcl-2 revealed that abnormality of the p53 protein and aberrant bcl-2 expression, which may protect cells from apoptosis, may be critical to the development of leukaemogenesis exhibiting near-triploid chromosomes.     

Flame retardance-donated lignocellulose nanofibers (LCNFs) by the Mannich reaction with (amino-1,3,5-triazinyl)phosphoramidates and their properties

Nitrogen/phosphorus-containing melamines (NPCM), a durable flame-retardant, were prepared by the successive treatment of ArOH (Ar = Br_nC₆H_5−n, n = 0, 1, 2, and 3) with POCl₃ and melamine monomer. The prepared flame-retardants were grafted through the CH₂ unit to lignocellulose nanofibers (LCNFs) by the Mannich reaction. The resulting three-component products were characterized using FT-IR (ATR) and EA. The thermal behavior of the NPCM-treated LCNF fabric samples was determined using TGA and DSC analyses, and their flammability resistances were evaluated by measuring their Limited Oxygen Index (LOI) and the UL-94V test. A multitude of flame retardant elements in the fabric samples increased the LOI values as much as 45 from 20 of the untreated LCNFs. Moreover, the morphology of both the NPCM-treated LCNFs and their burnt fabrics was studied with a scanning electron microscope (SEM). The heat release lowering effect of the LCNF fabric against the water-based paint was observed with a cone calorimeter. Furthermore, the mechanical properties represented as the tensile strength of the NPCM-treated LCNF fabrics revealed that the increase of the NPCM content in the PP-composites led to an increased bending strength with enhancing the flame-retardance.

LCNFs were grafted with nitrogen/phosphorus-containing melamines to achieve potent flame-retardance and converted to PP-composites of improved mechanical properties.