DESIGN, SETTING AND PARTICIPANTS: We used PCR to determine the size of CTG repeats in 377 individuals not known to be affected by DM and 11 DM1 suspected patients, recruited from a tertiary hospital in Kuala Lumpur. TP-PCR was performed on selected samples, followed by Southern blot hybridisation of PCR amplified fragments to confirm and estimate the size of CTG expansion.
OUTCOME MEASURES: The number of individuals not known to be affected by DM with (CTG)>18 was determined according to ethnic group and as a whole population. The χ2 test was performed to compare the distribution of (CTG)>18 with 12 other populations. Additionally, the accuracy of TP-PCR in detecting CTG expansion in 11 patients with DM1 was determined by comparing the results with that from Southern blot hybridisation.
RESULTS: Of the 754 chromosomes studied, (CTG)>18 frequency of 3.60%, 1.57% and 4.00% in the Malay, Chinese and Indian subpopulations, respectively, was detected, showing similarities to data from Thai, Taiwanese and Kuwaiti populations. We also successfully detected CTG expansions in 9 patients using the TP-PCR method followed by the estimation of CTG expansion size via Southern blot hybridisation.
CONCLUSIONS: The results show a low DM1 prevalence in Malaysia with the possibility of underdiagnosis and demonstrates the feasibility of using a clinical and TP-PCR-based approach for rapid and cost-effective DM1 diagnosis in developing countries.
METHODS: We evaluated the expression patterns of 11 candidate miRNAs using quantitative real-time PCR in whole blood (n = 10) and muscle biopsy samples (n = 9) of DM1 patients, and compared them to those of normal control samples (whole blood, n = 10; muscle, n = 9).
RESULTS: In DM1 whole blood, miRNA-133a, -29b, and -33a were significantly upregulated, whereas miRNA-1, -133a, and -29c were significantly downregulated in the skeletal muscles compared to controls.
CONCLUSIONS: Our findings align to those reported in other studies and point towards pathways that potentially contribute toward pathogenesis in DM1. However, the currently available data is not sufficient for these miRNAs to be made DM1-specific biomarkers because they seem to be common to many muscle pathologies. Hence, they lack specificity, but reinforce the need for further exploration of DM1 biomarkers.
METHODS: GBS patients were consecutively recruited and the results were compared to age- and gender-matched healthy controls. A series of autonomic function tests including computation-dependent tests (power spectrum analysis of HRV and BRS at rest) and challenge maneuvers (deep breathing, eyeball compression, active standing, the Valsalva maneuver, sustained handgrip, and the cold pressor test) were performed.
RESULTS: Ten GBS patients (six men; mean age = 40.1 ± 13.9 years) and ten gender- and age-matched healthy controls were recruited. The mean GBS functional grading scale at disease plateau was 3.4 ± 1.0. No patients required intensive care unit admission or mechanical ventilation. Low-frequency HRV (p = 0.027), high-frequency HRV (p = 0.008), and the total power spectral density of HRV (p = 0.015) were significantly reduced in patients compared to controls. The mean up slope (p = 0.034), down slope (p = 0.011), and total slope (p = 0.024) BRS were significantly lower in GBS patients. The diastolic rise in blood pressure in the cold pressor test was significantly lower in GBS patients compared to controls (p = 0.008).
INTERPRETATION: Computation-dependent tests (HRV and BRS) were more useful for detecting autonomic dysfunction in GBS patients, whereas the cold pressor test was the only reliable challenge test, making it useful as a bedside measure of autonomic function in GBS patients.
METHODS: AIS patients treated with IV rt-PA from February 2012 to August 2016 were recruited. Demographic data, National Institutes of Health Stroke Scale (NIHSS) scores, timing and neuroradiological findings were recorded. Patients received a dose of 0.9 mg/kg IV rt-PA within 4.5 hours of symptom onset. mRS score was evaluated at discharge and three months, and good and poor clinical outcomes were defined as scores of 0-2 and 3-6, respectively. Baseline THRIVE scores were assessed.
RESULTS: 36 patients received IV rt-PA. 20 (55.6%) patients had an mRS score of 0-2 at three months. Based on THRIVE score, 86.1% had a good or moderately good prognosis. On univariate analysis, poor outcome was associated with NIHSS score before rt-PA (p = 0.03), THRIVE score (p = 0.02), stroke subtype (p = 0.049) and diabetes mellitus (DM; p = 0.06). Multiple logistic regression showed that outcome was significantly associated with NIHSS score before rt-PA (p = 0.032) and DM (p = 0.010).
CONCLUSION: Our newly developed Malaysian IV rt-PA service is safe, with similar outcomes to the published literature. Functional outcome after thrombolysis was associated with baseline NIHSS score and DM.
METHODS: One hundred sixty-six healthy Malaysians of different ethnicities (51.2% women, aged 21-77 years) underwent NCS using a standard protocol. Correlations of various factors to NCS were determined, and multiple linear regression analysis was used to develop predictive equations for each parameter.
RESULTS: Age and ethnicity were the commonest independent factors influencing NCS followed by gender, height, weight, and body mass index. Increasing age predicted a reduction in lower limb motor and all sensory nerve action potential amplitudes and decrease in motor and sensory (except sural) conduction velocities. Ethnic Indians had slower motor and sensory conduction velocities in several nerves and also had differences in action potential amplitudes.
CONCLUSIONS: NCS parameters in multi-ethnic Malaysians were influenced independently by various demographic and physical factors, including ethnicity. Muscle Nerve 54: 244-248, 2016.