Clinical and Genetic Characteristics of XIAP Deficiency in Japan

Deficiency of X-linked inhibitor of apoptosis (XIAP) caused by XIAP/BIRC4 gene mutations is an inherited immune defect recognized as X-linked lymphoproliferative syndrome type 2. This disease is mainly observed in patients with hemophagocytic lymphohistiocytosis (HLH) often associated with Epstein-Barr virus infection. We described nine Japanese patients from six unrelated families with XIAP deficiency and studied XIAP protein expression, XIAP gene analysis, invariant natural killer T (iNKT) cell counts, and the cytotoxic activity of CD8(+) alloantigen-specific cytotoxic T lymphocytes. Of the nine patients, eight patients presented with symptoms in infancy or early childhood. Five patients presented with recurrent HLH, one of whom had severe HLH and died after cord blood transplantation. One patient presented with colitis, as did another patient's maternal uncle, who died of colitis at 4 years of age prior to diagnosis with XIAP deficiency. Interestingly, a 17-year-old patient was asymptomatic, while his younger brother suffered from recurrent HLH and EBV infection. Seven out of eight patients showed decreased XIAP protein expression. iNKT cells from patients with XIAP deficiency were significantly decreased as compared with age-matched healthy controls. These results in our Japanese cohort are compatible with previous studies, confirming the clinical characteristics of XIAP deficiency.     

Human placental form of glutathione S-transferase (GST-pi) as a new immunohistochemical marker for human colonic carcinoma

Human placental form of glutathione S-transferase (GST-pi) was detected in human colonic carcinomas and adenomas by peroxidase anti-peroxidase method using antibody raised against GST-pi. Of 60 carcinomas, including differentiated adenocarcinomas and undifferentiated carcinomas, 88% were positive for GST-pi staining, and 47% of 23 adenomas were also positive. In the normal colonic mucosa, GST-pi was not detectable or was only weakly stained in the basal parts of the absorptive cells or in the cytoplasm of the cells containing little mucin. These results indicate that GST-pi is a possible new marker for immunohistochemical detection of human colonic carcinoma and some adenomas.     

Lymphangioma of the oesophagus: a case report and review of the literature.

Lymphangioma of the oesophagus is exceedingly rare. Seven cases (including our present case) have been reported in the world and are reviewed.     

Retrospective analysis of postoperative nausea and vomiting after craniotomy

BACKGROUND: Postoperative nausea and vomiting are important complications after craniotomy. METHODS: One hundred and seventy eight patients who had undergone brain tumor resection at Nara Medical University were retrospectively divided to one of two groups; with or without PONV within 24 hours postoperatively. Variables compared between the groups include gender, age, weight, height, site of surgery (supratentorial versus infratentorial craniotomy), size of brain tumor, type of anesthesia (inhalation versus intravenous anesthesia with nitrous oxide), intraoperative fentanyl dose, duration of surgery as well as anesthesia, and intraoperative posture. RESULTS: PONV occurred in 87 patients (49%). The incidence of PONV in patients undergoing infratentorial craniotomy was significantly higher than that in patients undergoing supratentorial craniotomy (75% vs 45%, P = 0.0011). There were no significant associations between PONV and other variables analyzed. CONCLUSIONS: These results indicate that the incidence of PONV after brain tumor resection is high and infratentorial surgery is a risk factor for PONV. Strategies for the prevention of PONV after craniotomy are required.     

Increased apoptosis in the syncytiotrophoblast in human term placentas complicated by either preeclampsia or intrauterine growth retardation.

OBJECTIVE: This study was undertaken to determine whether preeclampsia and intrauterine growth retardation are associated with an increase in placental apoptosis. STUDY DESIGN: Tissue specimens from 7 normal term placentas and each of 7 term placentas complicated by severe preeclampsia or intrauterine growth retardation were analyzed. Fas antigen and Bcl-2 protein expression were examined by the avidin/biotin immunoperoxidase method, whereas apoptosis was assessed by the terminal deoxynucleotidyl transferase deoxy-UTP-nick end labeling (TUNEL) method and transmission electron microscopy. RESULTS: Fas antigen was immunolocalized in syncytiotrophoblasts in all placentas examined. No changes in the intensity of Fas antigen immunostaining in syncytiotrophoblasts were apparent among those placentas. Bcl-2 protein was abundantly immunolocalized in syncytiotrophoblasts in normal term placentas, but least abundant in term placentas complicated by severe preeclampsia or intrauterine growth retardation. Apoptosis was apparent in the nuclei of both cytotrophoblasts and syncytiotrophoblasts. The apoptosis positive rate of syncytiotrophoblast nuclei in severe preeclamptic and intrauterine growth retardation term placentas was significantly higher than that in normal term placentas (severe preeclampsia, P <.001; intrauterine growth retardation, P <.01). Transmission electron microscopy revealed the appearance of apoptotic nuclei in trophoblasts in severe preeclamptic term placenta. CONCLUSION: Decreased expression of Bcl-2 protein in syncytiotrophoblasts in severe preeclamptic and intrauterine growth retardation placentas may result in the increase in apoptosis in syncytiotrophoblasts in those placentas.     

Bilateral multiple spindle cell lipomas of the tongue

Spindle cell lipoma (SCL) typically occurs in elderly men as a solitary lesion in the posterior neck and back, but less commonly also involves the oral cavity. Here, we describe a rare case of bilateral multiple SCLs of the tongue. The patient was a 72-year-old Japanese man with multiple painless soft nodules in the bilateral margins of the tongue. The patient was not obese, and had used alcohol moderately for more than 40 years. A clinical diagnosis of multiple tongue lipomas was made. The tumors were resected surgically, and they exhibited the histopathological features of SCL, composed of mature fat cells, collagen-forming CD34-positive spindle cells, and sparse mast cells. This suggests that differential diagnosis of intraoral multiple lipomatous nodules should include not only lipomatosis but also multiple SCLs, notwithstanding the rare incidence of the latter.     

Modeling of growing networks with directional attachment and communities.

In this paper, we propose a new network growth model and its learning algorithm to more precisely model such a real-world growing network as the Web. Unlike the conventional models, we have incorporated directional attachment and community structure for this purpose. We show that the proposed model exhibits a degree distribution with a power-law tail, which is an important characteristic of many large-scale real-world networks including the Web. Using real Web data, we experimentally show that predictive ability can be improved by incorporating directional attachment and community structure. Also, using synthetic data, we experimentally show that predictive ability can definitely be improved by incorporating community structure.     

Comparison of 0.5% chlorhexidine gluconate alcohol with 10% povidone-iodine for skin disinfection in children to prevent blood culture contamination

IntroductionVarious disinfectants, such as povidone iodine (PVI)¹, alcohol preparations, and chlorhexidine gluconate ethanol (CHG-ALC), are used for disinfection prior to blood sampling for culture.MethodsThis retrospective cohort study compared the usefulness and effectiveness of CHG-ALC and PVI in pediatric venipuncture. We applied 0.5% w/v CHG-ALC or 10% PVI as an antiseptic for phlebotomies on pediatric outpatients and inpatients with suspected bacterial infection between November 2017 and April 2019. We conducted logistic regression analysis to define the differences associated with the choice of disinfectant, collection site, and the staff member collecting the blood sample (explanatory variables) and the presence of contamination (objective variable). Based on these results, we performed propensity score matching.ResultsThe total number of specimens was 1460. The propensity score matching indicated that CHG-ALC reduced the incidence of blood culture contamination more effectively than PVI (0.4%, 2/479 cultures versus 2.5%, 12/479 cultures; relative risk, 0.163 [95% confidence interval, 0.036 to 0.733]; P = 0.012). There were no differences in the contamination rates between cultures of blood drawn from a vascular catheter and those of blood obtained percutaneously. Higher contamination rates were found when junior residents performed the venipuncture.ConclusionsCompared with PVI, CHG-ALC dries rapidly with no pigmentation and has a long-lasting antiseptic effect. Overall, CHG-ALC skin preparations were more efficacious than the PVI preparations for blood sampling in children.