Novel XIAP mutation with early-onset Crohn's disease complicated with acute heart failure: a case report.

BACKGROUND: The X-linked inhibitor of apoptosis (XIAP) protein is encoded by the XIAP gene and is critical for multiple cell responses and plays a role in preventing cell death. XIAP mutations are associated with several diseases, primarily including hemophagocytic lymphohistiocytosis and inflammatory bowel disease (IBD). We report the clinical features and results associated with hemizygous mutation of the XIAP gene in a young male with Crohn's disease complicated with acute heart failure.This 16-year-old patient ultimately died of heart failure. CASE PRESENTATION: A young male of 16 years of age was initially diagnosed with Crohn's disease based on evidences from endoscopic and histological findings. Although supportive care, anti-infective drugs and biologics were administered consecutively for 11 months, his clinical manifestations and laboratory indices (patient's condition) did not improved. Additionally, the patient exhibited a poor nutritional status and sustained weight loss. Subsequently, acute heart failure led to the exacerbation of the patient's condition. He was diagnosed with wet beriberi according to thiamine deficiency, but the standard medical therapy for heart failure and thiamine supplementation did not reverse the adverse outcomes. Comprehensive genetic analysis of peripheral blood-derived DNA revealed a novel hemizygous mutation of the XIAP gene (c.1259_1262 delACAG), which was inherited from his mother. CONCLUSION: A novel XIAP mutation (c.1259_1262 delACAG) was identified in this study. It may be one of the potential pathogenic factors in Crohn's disease and plays an important role in the progression of heart failure. Additionally, thiamine deficiency triggers a vicious cycle.

Potential Antinociceptive Effects of Chinese Propolis and Identification on Its Active Compounds.

Propolis is an important bee product which has been applied to the treatment of several diseases. The aim of this study was to understand the material basis of Chinese propolis on pain relief; different Chinese propolis fractions (40W, 40E, 70E, and 95E raw propolis extracted followed by 40%, 70%, or 95% ethanol) were prepared, and their antinociceptive effects were evaluated. By analyzing using UPLC-Q-TOF-MS, we showed that 40W was rich in phenolic acids, like caffeic acid, while 40E, 70E, and 95E have relatively high levels in flavonoids, like galangin, pinocembrin, and chrysin. Notably, chrysin amounts in 70E and 95E are much higher than those in 40E fraction. Antinociceptive effects by these propolis fractions were evaluated in mice using acetic acid-induced writhing test, hot plate test, and tail immersion test, respectively. We noticed that only 40E fraction showed a significant reduction on acetic acid-induced writhing test. Importantly, in the hot plate test, all groups showed their effectiveness, except for the 70E group. We also noticed that 40W, 40E, and 95E administration caused an increase in the tail withdrawal latency of the mice. These data suggested that the different antinociceptive effects of different fractions from Chinese propolis extracts are directly link to their flavonoid composition.

High-kappa oxide nanoribbons as gate dielectrics for high mobility top-gated graphene transistors.

Deposition of high-kappa dielectrics onto graphene is of significant challenge due to the difficulties of nucleating high quality oxide on pristine graphene without introducing defects into the monolayer of carbon lattice. Previous efforts to deposit high-kappa dielectrics on graphene often resulted in significant degradation in carrier mobility. Here we report an entirely new strategy to integrate high quality high-kappa dielectrics with graphene by first synthesizing freestanding high-kappa oxide nanoribbons at high temperature and then transferring them onto graphene at room temperature. We show that single crystalline Al(2)O(3) nanoribbons can be synthesized with excellent dielectric properties. Using such nanoribbons as the gate dielectrics, we have demonstrated top-gated graphene transistors with the highest carrier mobility (up to 23,600 cm(2)/V x s) reported to date, and a more than 10-fold increase in transconductance compared to the back-gated devices. This method opens a new avenue to integrate high-kappa dielectrics on graphene with the preservation of the pristine nature of graphene and high carrier mobility, representing an important step forward to high-performance graphene electronics.

Single-layer graphene on Al2O3/Si substrate: better contrast and higher performance of graphene transistors.

The fact that single-layer graphene can be visualized on 300 nm SiO(2)/Si substrate using an optical microscope has enabled the facile fabrication of single-layer graphene devices for fundamental studies and potential applications. Here we report on an Al(2)O(3)/Si substrate for the fabrication of graphene devices with better contrast and higher performance. Our studies show that the contrast of single-layer graphene on 72 nm Al(2)O(3)/Si substrate is much better than that of single-layer graphene on 300 nm SiO(2)/Si substrate. Moreover, the transconductance of single-layer graphene transistors on Al(2)O(3)/Si substrate shows a more than sevenfold increase, due to the smaller dielectric thickness and higher dielectric constant in a 72 nm Al(2)O(3) film. These studies demonstrate a new and superior substrate for the fabrication of graphene transistors, and are of significance for both fundamental studies and technological applications.