Polymorphisms of CR1, CLU and PICALM confer susceptibility of Alzheimer's disease in a southern Chinese population

In this case-controlled study, we tested susceptible genetic variants for Alzheimer's disease (AD) in CR1, CLU and PICALM from genome-wide association studies (GWAS) in a southern Chinese population. Eight hundred twelve participants consisting of 462 late-onset Alzheimer's disease (LOAD) patients and 350 nondemented control subjects were recruited. We found by multivariate logistic regression analysis, that single nucleotide polymorphisms (SNPs) in CR1 (rs6656401 adjusted allelic p = 0.035; adjusted genotypic p = 0.043) and CLU (rs2279590 adjusted allelic p = 0.035; adjusted genotypic p = 0.006; rs11136000 adjusted allelic p = 0.038; adjusted genotypic p = 0.009) were significantly different between LOAD patients and nondemented controls. For PICALM, LOAD association was found only in the APOE ε4 (-) subgroup (rs3851179 adjusted allelic p = 0.028; adjusted genotypic p = 0.013). Our findings showed evidence of CR1, CLU, and PICALM and LOAD susceptibility in an independent southern Chinese population, which provides additional evidence for LOAD association apart from prior genome-wide association studies in Caucasian populations. © 2012 Elsevier Inc.postprin

Metronomic oral cyclosphosphamide as third-line systemic treatment or beyond in patients with inoperable locoregionally advanced recurrent or metastatic nasopharyngeal carcinoma

published_or_final_versio

Prognostication of serial post-intensity-modulated radiation therapy undetectable plasma EBV DNA for nasopharyngeal carcinoma

published_or_final_versio

Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant.

Lumbar disc degeneration (LDD) is associated with both genetic and environmental factors and affects many people worldwide. A hallmark of LDD is loss of proteoglycan and water content in the nucleus pulposus of intervertebral discs. While some genetic determinants have been reported, the etiology of LDD is largely unknown. Here we report the findings from linkage and association studies on a total of 32,642 subjects consisting of 4,043 LDD cases and 28,599 control subjects. We identified carbohydrate sulfotransferase 3 (CHST3), an enzyme that catalyzes proteoglycan sulfation, as a susceptibility gene for LDD. The strongest genome-wide linkage peak encompassed CHST3 from a Southern Chinese family-based data set, while a genome-wide association was observed at rs4148941 in the gene in a meta-analysis using multiethnic population cohorts. rs4148941 lies within a potential microRNA-513a-5p (miR-513a-5p) binding site. Interaction between miR-513a-5p and mRNA transcribed from the susceptibility allele (A allele) of rs4148941 was enhanced in vitro compared with transcripts from other alleles. Additionally, expression of CHST3 mRNA was significantly reduced in the intervertebral disc cells of human subjects carrying the A allele of rs4148941. Together, our data provide new insights into the etiology of LDD, implicating an interplay between genetic risk factors and miRNA.published_or_final_versio

Pneumocystis Jiroveci Infection and Craniospinal Irradiation with Arc Therapy: a Report of Two cases

Tomotherapy, a form of arc therapy, is often preferred to craniospinal irradiation (CSI) because of its better dose homogeneity when planning target volume and minimising organ risk. We report the cases of two young men with central nervous system germ cell tumour who had unnoticed severe and prolonged lymphopenia after completing CSI with tomotherapy. Both developed Pneumocystis jiroveci pneumonia and one died of respiratory failure. We hypothesise that the rapid drop in lymphocyte count may have been in part due to the ‘low dose bath’ of radiation to the whole pulmonary vasculature with consequent killing of the circulating lymphocytes, in addition to low-dose radiation to a high volume of the thymus, thoracic duct, and bone marrow. We therefore suggest close monitoring of lymphocyte count during tomotherapy-CSI and consideration of co-trimoxazole prophylaxis in severe lymphopenic patients. Further large-scale study is required to understand the possible correlation of V1-V5 lung dosimetry with risk of lymphopenia

Prescription compliance of prn symptom control medications for terminal cancer patients in an oncology centre in Hong Kong

Conference Theme: Transforming Palliative Car

Towards a Patient-Family Care Model: The Evaluation of a Cancer Family Support Pilot Project

Session Name: Carer SupportConference theme: East Meets West: Expanding Frontiers and DiversityOral presentationSession Theme: Hospice and Palliative Care: Challenges and Innovation