Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome.

The Wiskott-Aldrich Syndrome (WAS) is an X-linked recessive immunodeficiency caused by mutation in the gene encoding WAS protein (WASP). The disease is characterized by eczema, thrombocytopenia and severe immunodeificency and is associated with extensive clinical heterogeneity. Mutation studies indicated that the mutated genotypes are also highly variable. In this study, we performed PCR-direct sequencing analysis of the WAS gene in six unrelated Chinese families. Five novel mutations identified, included two nonsense mutations (506C-->T, 1388-->T), a small insertion (685-686insCGCA) and two single-base deletions (384delT, 984delC). All of the mutations are predicted to lead to premature translational termination of WASP. Copyright 2002 Wiley-Liss, Inc.postprin

Breast Conservation Treatment in Hong Kong – Early Results of 203 Patients: Retrospective Study

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Lymphadenopathy after BCG vaccination in a child with chronic granulomatous disease

We report a 15-month-old boy who developed an ulcer in the left axillary fold following bacillus Calmette-Guerin vaccination. Subsequent immunologic and genetic studies led to the diagnosis of chronic granulomatous disease. His mother had "lupus-like" lesions, described in some carriers of this disease, that were thus related to her son's diagnosis. Although in healthy subjects this vaccination is usually harmless, in instances of impaired immunity it may cause adverse reactions. When a vaccine-related complication occurs, an underlying immunodeficiency should be sough

Ten-year experience with liver transplantation at Queen Mary Hospital: retrospective study.

OBJECTIVE: To report the experience with liver transplantation at the Queen Mary Hospital from 1991 to 2000. DESIGN: Retrospective study. SETTING: Liver transplant centre of a University teaching hospital, Hong Kong. PATIENTS: One hundred and forty-eight patients (127 adults and 21 children) who underwent a total of 155 liver transplants using 75 cadaver grafts (full-size, 67; reduced-size, 5; split, 3) and 80 living donor grafts (left lateral segment, 15; left lobe, 6; right lobe, 59) from October 1991 to December 2000 were reviewed. MAIN OUTCOME MEASURES: Graft and patient survival rate. RESULTS: The most common disease indications for liver transplantation were chronic hepatitis B-related liver disease (n=74) in adults and biliary atresia (n=14) in children. Eighteen patients had hepatocellular carcinoma. Forty-eight (31%) liver transplants (three ABO-incompatible) were performed in high-urgency situations for patients requiring intensive care. The proportion of living donor liver transplants was 47.7% in adults and 73.9% in children. The overall 1-year and 5-year patient survival rates were 82% and 77%, respectively. The survival of high-risk recipients, such as those with fulminant hepatic failure (80%), chronic hepatitis B (81%), or hepatocellular carcinoma (94%), was not inferior to that of other patients. CONCLUSION: Over the last decade, the promotion of (cadaver) organ donation through public education coupled with innovative techniques in living donor liver transplantation have enabled a liver transplantation programme to be established in Hong Kong with gratifying results.published_or_final_versio

Generation of photovoltage in graphene on a femtosecond time scale through efficient carrier heating

Graphene is a promising material for ultrafast and broadband photodetection. Earlier studies addressed the general operation of graphene-based photo-thermoelectric devices, and the switching speed, which is limited by the charge carrier cooling time, on the order of picoseconds. However, the generation of the photovoltage could occur at a much faster time scale, as it is associated with the carrier heating time. Here, we measure the photovoltage generation time and find it to be faster than 50 femtoseconds. As a proof-of-principle application of this ultrafast photodetector, we use graphene to directly measure, electrically, the pulse duration of a sub-50 femtosecond laser pulse. The observation that carrier heating is ultrafast suggests that energy from absorbed photons can be efficiently transferred to carrier heat. To study this, we examine the spectral response and find a constant spectral responsivity between 500 and 1500 nm. This is consistent with efficient electron heating. These results are promising for ultrafast femtosecond and broadband photodetector applications.Comment: 6 pages, 4 figure

Astrocytes grown in Alvetex® 3 dimensional scaffolds retain a non-reactive phenotype

yesProtocols which permit the extraction of primary astrocytes from either embryonic or postnatal mice are well established however astrocytes in culture are different to those in the mature CNS. Three dimensional (3D) cultures, using a variety of scaffolds may enable better phenotypic properties to be developed in culture. We present data from embryonic (E15) and postnatal (P4) murine primary cortical astrocytes grown on coated coverslips or a 3D polystyrene scaffold, Alvetex. Growth of both embryonic and postnatal primary astrocytes in the 3D scaffold changed astrocyte morphology to a mature, protoplasmic phenotype. Embryonic-derived astrocytes in 3D expressed markers of mature astrocytes, namely the glutamate transporter GLT-1 with low levels of the chondroitin sulphate proteoglycans, NG2 and SMC3. Embroynic astrocytes derived in 3D show lower levels of markers of reactive astrocytes, namely GFAP and mRNA levels of LCN2, PTX3, Serpina3n and Cx43. Postnatal-derived astrocytes show few protein changes between 2D and 3D conditions. Our data shows that Alvetex is a suitable scaffold for growth of astrocytes, and with appropriate choice of cells allows the maintenance of astrocytes with the properties of mature cells and a non-reactive phenotype.BBSR

MiR-RACE, a New Efficient Approach to Determine the Precise Sequences of Computationally Identified Trifoliate Orange (Poncirus trifoliata) MicroRNAs

BACKGROUND: Among the hundreds of genes encoding miRNAs in plants reported, much more were predicted by numerous computational methods. However, unlike protein-coding genes defined by start and stop codons, the ends of miRNA molecules do not have characteristics that can be used to define the mature miRNAs exactly, which made computational miRNA prediction methods often cannot predict the accurate location of the mature miRNA in a precursor with nucleotide-level precision. To our knowledge, there haven't been reports about comprehensive strategies determining the precise sequences, especially two termini, of these miRNAs. METHODS: In this study, we report an efficient method to determine the precise sequences of computationally predicted microRNAs (miRNAs) that combines miRNA-enriched library preparation, two specific 5' and 3' miRNA RACE (miR-RACE) PCR reactions, and sequence-directed cloning, in which the most challenging step is the two specific gene specific primers designed for the two RACE reactions. miRNA-mediated mRNA cleavage by RLM-5' RACE and sequencing were carried out to validate the miRNAs detected. Real-time PCR was used to analyze the expression of each miRNA. RESULTS: The efficiency of this newly developed method was validated using nine trifoliate orange (Poncirus trifoliata) miRNAs predicted computationally. The miRNAs computationally identified were validated by miR-RACE and sequencing. Quantitative analysis showed that they have variable expression. Eight target genes have been experimentally verified by detection of the miRNA-mediated mRNA cleavage in Poncirus trifoliate. CONCLUSION: The efficient and powerful approach developed herein can be successfully used to validate the sequences of miRNAs, especially the termini, which depict the complete miRNA sequence in the computationally predicted precursor

Alberta Diabetes and Physical Activity Trial (ADAPT): A randomized theory-based efficacy trial for adults with type 2 diabetes - rationale, design, recruitment, evaluation, and dissemination

Background: The primary aim of this study was to compare the efficacy of three physical activity (PA) behavioural intervention strategies in a sample of adults with type 2 diabetes. Method/Design: Participants (N = 287) were randomly assigned to one of three groups consisting of the following intervention strategies: (1) standard printed PA educational materials provided by the Canadian Diabetes Association [i.e., Group 1/control group)]; (2) standard printed PA educational materials as in Group 1, pedometers, a log book and printed PA information matched to individuals' PA stage of readiness provided every 3 months (i.e., Group 2); and (3) PA telephone counseling protocol matched to PA stage of readiness and tailored to personal characteristics, in addition to the materials provided in Groups 1 and 2 (i.e., Group 3). PA behaviour measured by the Godin Leisure Time Exercise Questionnaire and related social-cognitive measures were assessed at baseline, 3, 6, 9, 12 and 18-months (i.e., 6-month follow-up). Clinical (biomarkers) and health-related quality of life assessments were conducted at baseline, 12-months, and 18-months. Linear Mixed Model (LMM) analyses will be used to examine time-dependent changes from baseline across study time points for Groups 2 and 3 relative to Group 1. Discussion: ADAPT will determine whether tailored but low-cost interventions can lead to sustainable increases in PA behaviours. The results may have implications for practitioners in designing and implementing theory-based physical activity promotion programs for this population