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Fulltext Tay-Sach disease with "cherry-red spot"--first reported case in Malaysia

Chan LY, Balasubramaniam S, Sunder R, Jamalia R, Karunakar TV, Alagaratnam J

Med J Malaysia, 2011 Dec;66(5):497-8.
PMID: 22390110

We present a rare case of Tay-Sachs disease with retinal 'cherry-red spots' in a 19-month-old Malay child. Molecular genetic studies confirmed the diagnosis. The case highlights that 'cherry-red spot' is a useful clinical clue in Tay-Sachs disease and several other lysosomal storage disorders. It serves as an ideal illustration of the eye as a window to inborn error of metabolism.
Effect of time delay on survival in patients with non-small cell lung cancer--a Malaysian study

Loh LC, Chan LY, Tan RY, Govindaraju S, Ratnavelu K, Kumar S, et al.

Asia Pac J Public Health, 2006;18(1):69-71.
PMID: 16629441

The prognosis of lung cancer remains poor with overall five year survival figures varying between five and 10% worldwide, However, it has been shown that surgery in patients with early stage disease in non-small cell lung cancer can achieve five year survival rates up to 80%, suggesting that early or delay diagnosis can influence prognosis. Nevertheless, studies addressing this have been inconclusive and mostly derived from Western countries.
Fulltext Time delay and its effect on survival in malaysian patients with non-small cell lung carcinoma

Loh LC, Chan LY, Tan RY, Govindaraju S, Ratnavelu K, Kumar S, et al.

Malays J Med Sci, 2006 Jan;13(1):37-42.
PMID: 22589589 MyJurnal

While evidence indicates that early stage disease has better prognosis, the effect of delay in presentation and treatment of patients with non-small cell lung cancer (NSCLC) on survival is debatable. A retrospective study of 122 Malaysian patients with NSCLC was performed to examine the presentation and treatment delay, and its relation with patient survival. Median (25-75% IQR) interval between onset of symptoms and first hospital consultation (patient delay) and between first hospital consultation and treatment or decision to treat (doctor delay) were 2 (1.0- 5.0) and 1.1 (0.6-2.4) months respectively. The median survival rates in patient delay of <1, 1 to 3, and >3 months were 4.1 (9.9-1.7), 5.1 (10.9-3.2) and 5.7 (12.3-2.1) months respectively (log rank p=0.648), while in doctor delay, <30, 30-60, >60 days, the rates were 4.1 (10.8-1.8), 7.6 (13.7-3.2) and 5.3 (16.0-3.0) months respectively (p=0.557). Most patients presented and were treated in a relatively short time, and delays did not appear to influence survival. This Asian data is consistent with those from Western population, reiterating the need for public health measures that can identify disease early..
Survival in Patients with Non-Small Cell Lung Cancer Who Opted out of Cancer-Specific Therapy

Loh LC, Tan RY, Chan LY, Govindaraju S, Ratnavelu K, Kumar S, et al.

Malays J Med Sci, 2006 Jul;13(2):24-9.
PMID: 22589601 MyJurnal

In Malaysia, many patients opted out of cancer-specific treatment for various reasons. This study was undertaken to investigate the survival rate of patients with stages I to III non-small cell lung cancer (NSCLC) who opted out of treatment, compared with those who accepted treatment. Case records of 119 patients diagnosed with NSCLC between 1996 and 2003 in two urban-based hospitals were retrospectively examined. Survival status was ascertained from follow-up medical clinic records or telephone contact with patients or their next-of-kin. Median (25-75% IQR) survival rate for 79 patients who accepted and 22 patients who opted out of treatment, were 8.6 (16.0-3.7) and 2.2 (3.5-0.8) months respectively [log rank p< 0.001, Kaplan-Meier survival analysis]. Except for proportionately more patients with large cell carcinoma who declined treatment, there was no significant difference between the two groups in relation with age, gender, ethnicity, tumour stage, and time delays between symptom onset and treatment or decision-to-treat. We concluded that there was a small but significant survival benefit in accepting cancer-specific treatment. The findings imply that there is no effective alternative therapy to cancer-specific treatment in improving survival. However, overall prognosis for patients with NSCLC remains dismal.
Fulltext Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology

Gormus U, Chaubey A, Shenoy S, Wong YW, Chan LY, Choo BP, et al.

Curr Issues Mol Biol, 2021 Aug 17;43(2):958-964.
PMID: 34449543 DOI: 10.3390/cimb43020068

Background: Rolling-circle replication (RCR) is a novel technology that has not been applied to cell-free DNA (cfDNA) testing until recently. Given the cost and simplicity advantages of this technology compared to other platforms currently used in cfDNA analysis, an assessment of RCR in clinical laboratories was performed. Here, we present the first validation study from clinical laboratories utilizing RCR technology. Methods: 831 samples from spontaneously pregnant women carrying a singleton fetus, and 25 synthetic samples, were analyzed for the fetal risk of trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13), by three laboratories on three continents. All the screen-positive pregnancies were provided post-test genetic counseling and confirmatory diagnostic invasive testing (e.g., amniocentesis). The screen-negative pregnancies were routinely evaluated at birth for fetal aneuploidies, using newborn examinations, and any suspected aneuploidies would have been offered diagnostic testing or confirmed with karyotyping. Results: The study found rolling-circle replication to be a highly viable technology for the clinical assessment of fetal aneuploidies, with 100% sensitivity for T21 (95% CI: 82.35-100.00%); 100.00% sensitivity for T18 (71.51-100.00%); and 100.00% sensitivity for T13 analyses (66.37-100.00%). The specificities were >99% for each trisomy (99.7% (99.01-99.97%) for T21; 99.5% (98.62-99.85%) for T18; 99.7% (99.03-99.97%) for T13), along with a first-pass no-call rate of 0.93%. Conclusions: The study showed that using a rolling-circle replication-based cfDNA system for the evaluation of the common aneuploidies would provide greater accuracy and clinical utility compared to conventional biochemical screening, and it would provide comparable results to other reported cfDNA methodologies.
Descriptive assessment on diabetic retinopathy screening in an awareness programme in Malaysia

Ngah NF, Muhamad NA, Asnir ZZ, Abdul Aziz RA, Mhad Kassim Z, Sahar SA, et al.

Int J Ophthalmol, 2020;13(11):1808-1813.
PMID: 33215014 DOI: 10.18240/ijo.2020.11.19

AIM: To determine the prevalence of diabetic retinopathy (DR) among diabetic patients at the primary health clinics in Selangor, Malaysia.
METHODS: All diabetic patients were screened in Retinal Disease Awareness Programme (RDAP) and those who had significant DR changes were referred to the hospital for further management. Descriptive analyses were done to determine the prevalence of DR and sociodemographic characteristics among patients with diabetic. Univariate and multivariable analysis using Logistic regression were performed to find association and predictor factors in this screening.
RESULTS: A total of 3305 patients aged 40y and above were screened for DR. Of the patients screened, 9% patients were found to have DR and other visual complication such as maculopathy (0.9%), cataract (4.8%) and glaucoma (0.4%). The mean age of patients without retinopathy was 57.82±8.470y and the mean age of patients with DR was 63.93±9.857y. About 61.5% of the patients screened were aged below 60y and 38.5% were aged 60y and above. Majority of the patients screened were women 58.5% and Malay in the age group of 50-59y, while 27% were aged 60-69y. Significant association were found between age, sex, race, visual loss and DR.
CONCLUSION: Although the prevalence of DR among patients is not alarming, effective interventions need to be implemented soon to avert a large burden of visual loss from DR.