METHODS: Surgical samples from seven patients with a total of 17 sequential biopsies were retrieved for the study of p53 gene expression using immunohistochemical stain, and gene status by PCR-SSCP for exons 5-8. The tumours were graded according to the WHO classification criteria. P53 was distinctly over-expressed in five transformed higher grade biopsies, and all except one showed electrophoretic mobility shift in PCR-SSCP analysis. Sequencing analysis revealed single nucleotide substitutions in three of four of these high-grade transformed cases with band shift (75%), whereas some other studies reported a lower frequency of 25-30%, and mobility shift result was found to correlate with P53 expression. Lower grade tumours without P53 over-expression did not demonstrate band shift, and sequencing analysis did not reveal mutations.
CONCLUSIONS: We demonstrated the feasibility of adopting PCR-SSCP for screening of p53 mutations in archival tissue samples in this study, and there is a strong correlation of p53 gene over-expression and mutation events in high-grade transformed tumours.
CASE REPORT: In this case series, we report on two cases of WT which had poor response to pre-operative chemotherapy. Both cases underwent surgery after pre-operative chemotherapy and recovery was uneventful during a two-year follow-up.
DISCUSSION: Both patients had chemotherapy prior planned surgery, but had unfortunate poor tumour response. The tumour progressed in size which required a radical nephrectomy. The histology report for the first case had more than 60% blastemal cells remaining despite giving pre-operative chemotherapy with no focal anaplasia. This showed poor response to chemotherapy evidenced by the high number of blastemal cells. The second case was a stromal type WT which is known for poor response and may lead to enhancement of growth and maturation induced by chemotherapy. These were the possible reason of poor response of WT in these two cases.
MATERIALS AND METHODS: Twelve consecutive patients with severe myelopathy (JOA-score less than 11) from ventral CVJ compression were operated between 2014-2020 using a tubular retractor assisted transoral decompression.
RESULTS: All patients improved neurologically statistically (p=0.02). There were no posterior pharynx wound infections or rhinolalia. There was one case with incomplete removal of the lateral wall of odontoid and one incidental durotomy.
CONCLUSIONS: A Tubular retractor provides adequate access for decompression of the ventral compression of CVJ. As the tubular retractor pushed away the uvula, soft palate and pillars of the tonsils as it docked on the posterior pharyngeal wall, the traditional complications associated with traditional transoral procedures is completely avoided.
METHODS: This is a non-randomised interventional study with age- and treatment- matched control conducted in a tertiary dermatology clinic from July 2021 to June 2022. Patients in the intervention group received a 10 min video presentation on acne, followed by treatment counselling. The adherence rate was determined objectively (pill counting and tube weighing) and subjectively (ECOB questionnaire). The disease severity was assessed using the Comprehensive Acne Severity Scale (CASS) and Global Acne Grading System (GAGS).
RESULTS: A total of 100 patients completed the 12-week study. With intervention, patients have better adherence to topical medication (5% benzoyl peroxide gel: 71% vs 57.9%, p= 0.031; 0.05% tretinoin cream: 58.7% vs 45.4%, p= 0.044) at week 12. However, the intervention program did not improve adherence to oral medication. Overall, with intervention, a significantly higher percentage of improvement in disease severity was noted (47.3% vs. 39.1%, p=0.044). Nonadherence to treatment was attributed mostly to forgetfulness in 54% of the patients, followed by a busy lifestyle (41%) and little knowledge of acne (26%).
CONCLUSION: Patients have significantly better adherence to topical medication with education and counselling. Better adherence to treatment leads to more remarkable disease improvement.
METHODS: The purpose of this study was to design an assay for the detection of triplications, common and rare deletional alpha thalassaemia using droplet digital PCR (ddPCR).
RESULTS: This is a quantitative detection method to measure the changes of copy number which can detect deletions, duplications and triplications of the alpha globin gene simultaneously.
CONCLUSION: In conclusion, ddPCR is an alternative method for rapid detection of alpha thalassaemia variants in Malaysia.