MyMedR

Displaying all 7 publications

Abstract:

Sort:

Fulltext Genotypic and phenotypic variation of CADASIL among Chinese, Indians and Rungus in Malaysia

Toh, Tsun-Haw, Lim, Kheng-Seang, Ng, Ching-Ching, Imran Idris, Sherrini Bazir Ahmad, Lim, Thien-Thien, et al.

Neuroscience Research Notes, 2019;2(3):1-11.
MyJurnal

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease of small cerebral arteries. This case series aims to describe the mutations in NOTCH3and their phenotypes in Malaysia. We includedpatients who were genetically confirmed to have CADASIL, diagnosed at the University of Malaya Medical Centre, Malaysia. Family members who fulfilled clinical or imaging criteria, and patients from two previous published Malaysian families were also included. Six families (eleven cases) were included in this series. Genetic testing revealed NOTCH3 mutations in c.328C>T (p.Arg110Cys, R110C), c.553T>G (p.Cys185Gly, C185G), c.1630C>T (p.Arg544Cys, R544C) and c.160C>T (p.Arg54Cys, R54C). Two out of four Chinese families had R544C mutation in exon 11, with a later age of onset, absence of migraine and lack of anterior temporal pole involvement on MRI. One family with mixed Indian and Chinese ancestry had a mutation in exon 3 with R110C and another Indian family exon 4 with C185G mutation. This case series highlights the genotypic and phenotypic variability of CADASIL in a multi-ethniccountry. The finding of p.Arg544Cys mutation among the older Chinese families, similar to those reported in Jeju Island and Taiwan, suggest the need to screen the older Chinese stroke patients with typical MRI changes.
Fulltext Acute Ischaemic Stroke Successfully Treated with Thrombolytic Therapy and Endovascular Thrombectomy with Non-Contrast Computed Tomography and Computed Tomography Angiogram Protocol

Toh TH, Abdul Kadir KA, Tai MS, Tan KS

Case Rep Neurol, 2020 12 14;12(Suppl 1):15-21.
PMID: 33505267 DOI: 10.1159/000501820

Early endovascular thrombectomy leads to improved outcomes for patients with proximal occlusions when started within 6 h from onset of symptoms. We present a case illustrating the flow of events for a patient who underwent endovascular thrombectomy in our centre after conventional imaging - a brain non-contrast computed tomography (NCCT) and CT angiogram (CTA) - achieving a door-to-groin time of 195 min. The patient is a 65-year-old who presented with signs and symptoms of a left middle cerebral artery (MCA) territory infarct. His National Institute of Health Stroke Scale (NIHSS) score was 15 on presentation and his brain NCCT showed an Alberta Stroke Programme Early CT Score (ASPECTS) of 8. His CTA showed a left MCA distal M1 occlusion with focal calcification and stenosis of the proximal left internal carotid artery. He was subsequently thrombosed and underwent thrombectomy successfully, with a door-to-groin-puncture time of 195 min. A TICI 2b reperfusion was achieved. His NIHSS score improved to 9 over the next 2 days. For cases with straightforward NCCT and CTA with no contraindications, endovascular thrombectomy should be pursued without delay. A review of the current available literature for the usage of NCCT and CTA as well as the importance of ASPECTS scoring in patient selection for endovascular thrombectomy was included.
Fulltext Mechanical Thrombectomy for Life-Threatening Cerebral Venous Thrombosis: A Case Report

Lau KF, Toh TH, Kadir KAA, Tai MS, Tan KS

Case Rep Neurol, 2020 12 14;12(Suppl 1):63-69.
PMID: 33505274 DOI: 10.1159/000507343

Cerebral venous thrombosis (CVT) is a rare cause of stroke worldwide with a wide range of clinical presentations. Anticoagulation therapy has been regarded as the first line of management of CVT to prevent the progression of thrombosis and to re-establish the venous flow. We present a case of severe CVT who did not respond to conventional anticoagulation therapy but responded well to mechanical thrombectomy (MT). This report highlights the features of CVT to consider for early MT.
A model incorporating ultrasound to predict the probability of fast disease progression in amyotrophic lateral sclerosis

Toh TH, Abdul-Aziz NA, Yahya MA, Goh KJ, Loh EC, Capelle DP, et al.

Clin Neurophysiol, 2021 10;132(10):2722-2728.
PMID: 34312065 DOI: 10.1016/j.clinph.2021.05.034

OBJECTIVE: We aimed to develop a model to predict amyotrophic lateral sclerosis (ALS) disease progression based on clinical and neuromuscular ultrasound (NMUS) parameters.
METHODS: ALS patients were prospectively recruited. Muscle fasciculation (≥2 over 30-seconds, examined in biceps brachii-brachialis (BB), brachioradialis, tibialis anterior and vastus medialis) and nerve cross-sectional area (CSA) (median, ulnar, tibial, fibular nerve) were evaluated through NMUS. Ultrasound parameters were correlated with clinical data, including revised ALS Functional Rating Scale (ALSFRS-R) progression at one year. A predictive model was constructed to differentiate fast progressors (ALSFRS-R decline ≥ 1/month) from non-fast progressors.
RESULTS: 40 ALS patients were recruited. Three parameters emerged as strong predictors of fast progressors: (i) ALSFRS-R slope at time of NMUS (p = 0.041), (ii) BB fasciculation count (p = 0.027) and (iii) proximal to distal median nerve CSA ratio
The utility of ALS staging systems in a multi-ethnic patient cohort

Abdul Aziz NA, Toh TH, Loh EC, Capelle DP, Goh KJ, Abdul Latif L, et al.

Amyotroph Lateral Scler Frontotemporal Degener, 2021 08;22(5-6):341-349.
PMID: 33726578 DOI: 10.1080/21678421.2021.1893336

Objective: To compare two ALS staging systems, King's clinical staging and Milano-Torino (MiToS) functional staging, using prospective data from a multi-ethnic cohort of ALS patients. Methods: The stages of disease were determined prospectively based on existing definitions. The two systems were compared for timing of stages using box plots, correspondence using chi-square tests and association using Spearman's rank correlation. Results: The distribution of stages differed between the two systems. The proportions of disease stages of the King's staging system were more evenly distributed whereas in MiToS, there was greater weight seen at the later stages of disease. At the early stages, patients moved consecutively in the MiToS staging system but not in the King's staging system where patients tended to skip stages to reach later stages. Both systems had good correlation (Spearman's rho = 0.869) and the King's stage 4 most frequently corresponded to MiToS stage 2. Conclusion: We found the King's staging was helpful in determining the stages of disease burden, whereas both were helpful in determining the time to functional dependence with MiToS further refining the levels of dependence.
Fulltext Chorea in Sporadic Creutzfeldt-Jakob Disease

Tan AH, Toh TH, Low SC, Fong SL, Chong KK, Lee KW, et al.

J Mov Disord, 2018 Sep;11(3):149-151.
PMID: 30086616 DOI: 10.14802/jmd.18017
Natural history and clinical features of ALS in Malaysia

Abdul Aziz NA, Toh TH, Goh KJ, Loh EC, Capelle DP, Abdul Latif L, et al.

Amyotroph Lateral Scler Frontotemporal Degener, 2021 02;22(1-2):108-116.
PMID: 33084408 DOI: 10.1080/21678421.2020.1832121

OBJECTIVE: Studies from multiethnic populations are rarely reported but do indicate differences in phenotypic presentation and survival in amyotrophic lateral sclerosis (ALS). In this study, we aimed to investigate the natural history of a cohort of ALS patients from a multiethnic population. Methods: Data from ALS patients presenting to our multidisciplinary ALS clinic were prospectively collected from January 2015 to June 2020 as part of an ongoing hospital-based patient registry. Kaplan-Meier and Cox regression model were performed to identify potential prognostic factors. Results: A total of 144 ALS patients were recruited. We estimated the crude ALS incidence as 0.53 per 100,000 for 2019 but rises to 2 per 100,000 in patients aged 60-74 years. The majority of patients were of Chinese ethnicity (59.7%), followed by Malay (24.3%), Indian (11.1%), and others (4.9%). Malaysian Indians had a significantly steeper ALSFRS-R slope at diagnosis (p = 0.040). We found a worse prognosis in patients with bulbar-onset (HR = 1.915, p = 0.019), older age (HR = 1.052, p = 0.000), and who were fast-progressors (HR = 1.274, p = 0.000). In contrast, a higher body mass index (HR = 0.921, p = 0.007) and a longer time to diagnosis (HR = 0.967, p = 0.006), noninvasive ventilation (HR = 0.820, p = 0.000) and percutaneous endoscopic gastrostomy insertion (HR = 0.823, p = 0.000) were associated with better survival. On multivariate analysis, diagnostic delay and slow disease progression were associated with better survival. Conclusions: In our cohort, diagnostic delay and a slow disease progression were significantly associated with better survival in ALS. We also found ethnic variation with Chinese preponderance and more rapid disease progression in patients of Indian descent.