METHODS: Liquid based cervico-vaginal cytology specimens with squamous abnormalities and corresponding histology from 97 women with subsequent colposcopy and biopsy were included. The specimens were then subjected to the dual stain and Roche Cobas 4800 multiplex real time PCR HPV DNA testing. The sensitivity and specificity of the dual stain and HPV testing were calculated using CIN 2+ on histology as a reference standard.
RESULTS: The sensitivity and specificity of the dual stain in detecting histology proven CIN 2+ was 93.7% and 76.5% while HPV testing was 85.7% and 14.7% respectively. Of the 44 women with ASCUS or LSIL on cytology, the dual stain also reduced the number of unnecessary colposcopy referrals from 27 to 7 when used as a triage marker compared to HPV testing.
CONCLUSION: p16/Ki-67 dual stain was more sensitive and specific than HPV testing in determining the presence of CIN 2+ on histology. It could triage low grade cervico-vaginal specimens more effectively and potentially help women avoid unnecessary colposcopies. Future studies are needed to further evaluate its role in cervical cancer screening programmes.
METHODS: A cross-sectional descriptive study with convenient sampling was carried out Hospital Tuanku Ja'afar, Hospital Port Dickson and Hospital Tuanku Ampuan Najihah in Negeri Sembilan, Malaysia. The participants answered a questionnaire regarding the source of their information about organ donation, their knowledge about brain death and willingness to donate. The association between variables was tested using chi-squared test or Fischer's exact test as appropriate.
RESULTS: A total of 385 individuals completed the survey of whom 134 (35%) were willing to donate their organs upon death and 25(19%) were registered donors. Higher educational level (41%), age 30 and below (42%) and people who attended organ donation awareness campaigns (60%) were more willing to donate their organs. Correct understanding of brain death was associated with willingness to be an organ donor. The commonest reason cited for unwillingness to donate was opposition from family members.
CONCLUSION: Marital status, religion, source of knowledge and occupation are significant factors in willingness to donate organs among Malaysians. Lower age and higher educational level were positive factors towards organ donation. Direct personal contact through awareness campaigns, family and friends has a potential for greater positive impact on organ donation.
MATERIALS AND METHODS: We studied a kindred of familial focal epilepsy with variable foci using whole-exome sequencing. We subsequently studied a cohort of 293 patients with focal epilepsy and sequenced all exons of DEPDC5 using targeted resequencing.
RESULTS: We reported a Taiwanese family with a novel splice site mutation which affected mRNA splicing and activated the downstream mammalian target of rapamycin (mTOR) pathway. Among patients with focal epilepsies, the majority (220/293) of these patients had sporadic focal epilepsy without malformation of cortical development. Two (0.9%) of these patients had probably pathogenic mutations in the DEPDC5 gene.
DISCUSSION AND CONCLUSIONS: Our finding suggests that DEPDC5 is not only the most common gene for familial focal epilepsy but also could be a significant gene for sporadic focal epilepsy. Since focal epilepsies account for more than 60% of all epilepsies, the effect of mTORC1 inhibitor on patients with focal epilepsy due to DEPDC5 mutations will be an important future direction of research.