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  1. Mazlan M, Rajasegaran S, Engkasan JP, Nawawi O, Goh KJ, Freddy SJ
    Toxins (Basel), 2015 Sep;7(9):3758-70.
    PMID: 26402703 DOI: 10.3390/toxins7093758
    This study aims to determine the most efficacious dose of Botulinum neurotoxin type A (BoNT-A) in reducing sialorrhea in Asian adults with neurological diseases. A prospective, double-blind randomized controlled trial was conducted over 24 weeks. Thirty patients with significant sialorrhea were randomly assigned to receive a BoNT-A (Dysport(®)) injection into the submandibular and the parotid glands bilaterally via an ultrasound guidance. The total dose given per patient was either BoNT-A injection of (i) 50 U; (ii) 100 U; or (iii) 200 U. The primary outcome was the amount of saliva reduction, measured by the differential weight (wet versus dry) of intraoral dental gauze at baseline and at 2, 6, 12, and 24 weeks after injection. The secondary outcome was the subjective report of drooling using the Drooling Frequency and Severity Scale (DFS). Saliva reduction was observed in response to all BoNT-A doses in 17 patients who completed the assessments. Although no statistically significant difference among the doses was found, the measured reduction was greater in groups that received higher doses (100 U and 200 U). The group receiving 200 U of Dysport(®) showed the greatest reduction of saliva until 24 weeks and reported the most significant improvement in the DFS score.
  2. Rosales RL, Balcaitiene J, Berard H, Maisonobe P, Goh KJ, Kumthornthip W, et al.
    Toxins (Basel), 2018 06 21;10(7).
    PMID: 29933562 DOI: 10.3390/toxins10070253
    The ONTIME study investigated whether early post-stroke abobotulinumtoxinA injection delays appearance or progression of upper limb spasticity (ULS) symptoms. ONTIME (NCT02321436) was a 28-week, exploratory, double-blind, randomized, placebo-controlled study of abobotulinumtoxinA 500U in patients with ULS (Modified Ashworth Scale [MAS] score ≥ 2) 2⁻12 weeks post-stroke. Patients were either symptomatic or asymptomatic (only increased MAS) at baseline. Primary efficacy outcome measure: time between injection and visit at which re-injection criteria were met (MAS ≥ 2 and ≥1, sign of symptomatic spasticity: pain, involuntary movements, impaired active or passive function). Forty-two patients were randomized (abobotulinumtoxinA 500U: n = 28; placebo: n = 14) with median 5.86 weeks since stroke. Median time to reach re-injection criteria was significantly longer for abobotulinumtoxinA (156 days) than placebo (32 days; log-rank: p = 0.0176; Wilcoxon: p = 0.0480). Eleven (39.3%) patients receiving abobotulinumtoxinA did not require re-injection for ≥28 weeks versus two (14.3%) in placebo group. In this exploratory study, early abobotulinumtoxinA treatment significantly delayed time to reach re-injection criteria compared with placebo in patients with post-stroke ULS. These findings suggest an optimal time for post-stroke spasticity management and help determine the design and sample sizes for larger confirmatory studies.
  3. Busman NA, Melling L, Goh KJ, Imran Y, Sangok FE, Watanabe A
    Sci Total Environ, 2023 Feb 01;858(Pt 2):159973.
    PMID: 36347298 DOI: 10.1016/j.scitotenv.2022.159973
    Information on temporal and spatial variations in soil greenhouse gas (GHG) fluxes from tropical peat forests is essential to predict the influence of climate change and estimate the effects of land use on global warming and the carbon (C) cycle. To obtain such basic information, soil carbon dioxide (CO2) and methane (CH4) fluxes, together with soil physicochemical properties and environmental variables, were measured at three major forest types in the Maludam National Park, Sarawak, Malaysia, for eight years, and their relationships were analyzed. Annual soil CO2 fluxes ranged from 860 to 1450 g C m⁻2 yr⁻1 without overall significant differences between the three forest sites, while soil CH4 fluxes, 1.2-10.8 g C m⁻2 yr⁻1, differed. Differences in GHG fluxes between dry and rainy seasons were not necessarily significant, corresponding to the extent of seasonal variation in groundwater level (GWL). The lack of significant differences in soil CO2 fluxes between the three sites could be attributed to set-off between the negative and positive effects of the decomposability of soil organic matter as estimated by pyrophosphate solubility index (PSI) and GWL. The impact of El-Niño on annual CO2 flux also varied between the sites. The variation in soil CH4 fluxes from the three sites was enhanced by variations in temperature, GWL, PSI, and soil iron (Fe) content. A positive correlation was observed between the annual CH4 flux and GWL at only one site, and the influence of soil properties was more pronounced at the site with the lowest GWL and the highest PSI. Variation in annual CH4 fluxes was controlled more strongly by temperature where GWL was the highest and GWL and plant growth fluctuations were the least. Inter-annual variations in soil CO2 and CH4 fluxes confirmed the importance of long-term monitoring of these at multiple sites supporting different forest types.
  4. Goh KJ, Tan CT, Chew NK, Tan PS, Kamarulzaman A, Sarji SA, et al.
    N Engl J Med, 2000 Apr 27;342(17):1229-35.
    PMID: 10781618 DOI: 10.1056/NEJM200004273421701
    BACKGROUND: Between September 1998 and June 1999, there was an outbreak of severe viral encephalitis due to Nipah virus, a newly discovered paramyxovirus, in Malaysia.
    METHODS: We studied the clinical features of the patients with Nipah virus encephalitis who were admitted to a medical center in Kuala Lumpur. The case definition was based on epidemiologic, clinical, cerebrospinal fluid, and neuroimaging findings.
    RESULTS: Ninety-four patients with Nipah virus infection were seen from February to June 1999 (mean age, 37 years; ratio of male patients to female patients, 4.5 to 1). Ninety-three percent had had direct contact with pigs, usually in the two weeks before the onset of illness, suggesting that there was direct viral transmission from pigs to humans and a short incubation period. The main presenting features were fever, headache, dizziness, and vomiting. Fifty-two patients (55 percent) had a reduced level of consciousness and prominent brain-stem dysfunction. Distinctive clinical signs included segmental myoclonus, areflexia and hypotonia, hypertension, and tachycardia and thus suggest the involvement of the brain stem and the upper cervical spinal cord. The initial cerebrospinal fluid findings were abnormal in 75 percent of patients. Antibodies against Hendra virus were detected in serum or cerebrospinal fluid in 76 percent of 83 patients tested. Thirty patients (32 percent) died after rapid deterioration in their condition. An abnormal doll's-eye reflex and tachycardia were factors associated with a poor prognosis. Death was probably due to severe brain-stem involvement. Neurologic relapse occurred after initially mild disease in three patients. Fifty patients (53 percent) recovered fully, and 14 (15 percent) had persistent neurologic deficits.
    CONCLUSIONS: Nipah virus causes a severe, rapidly progressive encephalitis with a high mortality rate and features that suggest involvement of the brain stem. The infection is associated with recent contact with pigs.
  5. Yaiw KC, Crameri G, Wang L, Chong HT, Chua KB, Tan CT, et al.
    J Infect Dis, 2007 Sep 15;196(6):884-6.
    PMID: 17703419
    Tioman virus, a relatively new paramyxovirus, was isolated from fruit bats (Pteropus species) on Tioman Island, Malaysia, in 2001. The objective of this study was to determine the prevalence of antibodies to T. virus in island inhabitants, by use of comparative ELISA and serum neutralization assays. Of the 169 human sera analyzed, 5 (approximately 3.0%) were positive for T. virus, by comparative ELISA. Of these 5 sera, 3 (1.8% of the total) had neutralizing antibodies against T. virus, suggesting previous infection of this study population by this virus or a similar virus.
  6. Chua KB, Lam SK, Goh KJ, Hooi PS, Ksiazek TG, Kamarulzaman A, et al.
    J Infect, 2001 Jan;42(1):40-3.
    PMID: 11243752
    To study the excretion of Nipah virus in the upper respiratory secretions and urine of infected patients in relation to other clinical features.
  7. Wong KT, Shieh WJ, Kumar S, Norain K, Abdullah W, Guarner J, et al.
    Am J Pathol, 2002 Dec;161(6):2153-67.
    PMID: 12466131
    In 1998, an outbreak of acute encephalitis with high mortality rates among pig handlers in Malaysia led to the discovery of a novel paramyxovirus named Nipah virus. A multidisciplinary investigation that included epidemiology, microbiology, molecular biology, and pathology was pivotal in the discovery of this new human infection. Clinical and autopsy findings were derived from a series of 32 fatal human cases of Nipah virus infection. Diagnosis was established in all cases by a combination of immunohistochemistry (IHC) and serology. Routine histological stains, IHC, and electron microscopy were used to examine autopsy tissues. The main histopathological findings included a systemic vasculitis with extensive thrombosis and parenchymal necrosis, particularly in the central nervous system. Endothelial cell damage, necrosis, and syncytial giant cell formation were seen in affected vessels. Characteristic viral inclusions were seen by light and electron microscopy. IHC analysis showed widespread presence of Nipah virus antigens in endothelial and smooth muscle cells of blood vessels. Abundant viral antigens were also seen in various parenchymal cells, particularly in neurons. Infection of endothelial cells and neurons as well as vasculitis and thrombosis seem to be critical to the pathogenesis of this new human disease.
  8. Tai MLS, Goh KJ, Kadir KAA, Zakaria MI, Yap JF, Tan KS
    Singapore Med J, 2019 May;60(5):236-240.
    PMID: 30488077 DOI: 10.11622/smedj.2018150
    INTRODUCTION: Intravenous (IV) thrombolysis with alteplase (rt-PA) is effective in ischaemic stroke. The primary objective was to evaluate predictors of functional outcome in acute ischaemic stroke (AIS) patients treated with IV rt-PA. The secondary objective was to assess the outcome with the modified Rankin scale (mRS). We also examined the predictive value of the Totaled Health Risks in Vascular Events (THRIVE) score.

    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.

  9. Tai MS, Viswanathan S, Rahmat K, Nor HM, Kadir KA, Goh KJ, et al.
    Sci Rep, 2016 12 13;6:38802.
    PMID: 27958312 DOI: 10.1038/srep38802
    Tuberculous meningitis (TBM) causes significant morbidity and mortality. The primary objective was to re-examine the concept of "TB zone" and "ischaemic zone" in cerebral infarction in patients with tuberculous meningitis. The secondary objective was to evaluate cerebral infarction, vasculitis and vasospasm in tuberculous meningitis infections. Between 2009 and 2014, TBM patients were recruited. Neuroimaging was performed and findings of cerebral infarction, vasculitis and vasospasm were recorded. Infarcts were classified based on arterial supply and Hsieh's classification. Fifty-one TBM patients were recruited of whom 34 patients (67%) had cerebral infarction. Based on Hsieh's classification, 20 patients (59%) had infarcts in both "TB zone" and "ischaemic zones". 12 patients (35%) had infarcts in "ischaemic zone" and two (6%) patients had infarcts in "TB zone". In terms of vascular supply, almost all patients (35/36) had infarcts involving perforators and cortical branches. 25 patients (73%) and 14 patients (41%) had infarcts supplied by lateral lenticulostriate and medial lenticulostriate arteries respectively. 15 patients (37%) had vasculitis. Vasospasm was present in six patients (15%). 29 patients (85%) with cerebral infarction also had leptomeningeal enhancement (p = 0.002). In summary, infarcts involved mainly perforators and cortical branches, rather than "TB zone" versus "ischaemic zone".
  10. Fong SY, Raja J, Wong KT, Goh KJ
    Rheumatol Int, 2021 02;41(2):355-360.
    PMID: 32488429 DOI: 10.1007/s00296-020-04610-8
    Asymptomatic electrophysiological peripheral neuropathy is described in systemic lupus erythematosus (SLE) patients. To determine if SLE could have an even earlier effect on peripheral nerve function even before the development of electrophysiological abnormalities, we compared nerve conduction studies (NCS) of SLE patients without electrophysiological or clinical peripheral neuropathy with healthy controls. Consecutive SLE patients without clinical neuropathy (or other known causes of neuropathy) underwent sensory and motor NCS of all four limbs. Results of 61 patients without electrophysiological criteria of neuropathy were compared with age- and gender-matched controls. Although still within the laboratory's range of normal values, significant differences were found in several NCS parameters between patients and controls. SLE patients had lower amplitudes for ulnar, fibular, and tibial compound muscle action potentials (CMAP) and sural sensory nerve action potentials (SNAP); slower conduction velocities for median, ulnar, and fibular motor nerves, and median, ulnar and sural sensory nerves. SLE patients also had longer minimum F-wave latencies for median, ulnar, fibular, and tibial nerves. H reflexes were more often absent in patients. Correlations were found between the number of disease relapses and motor conduction velocities of the fibular and tibial nerves. SLE may have early effect on peripheral nerve function in patients even before they develop electrophysiological or clinical neuropathy.
  11. Kew Y, Tan CY, Ng CJ, Thang SS, Tan LH, Khoo YK, et al.
    Rheumatol Int, 2017 Apr;37(4):633-639.
    PMID: 28013358 DOI: 10.1007/s00296-016-3633-x
    The prevalence of neuropathic low back pain differs in different ethnic populations. The aims of the study are to determine its frequency and associations in a multi-ethnic cohort of Asian low back pain patients. This was a cross-sectional study of low back patients seen at the University of Malaya Medical Centre, Kuala Lumpur, Malaysia. Neuropathic low back pain patients were identified using the painDETECT questionnaire and compared with non-neuropathic (unclear or nociceptive) low back pain patients, in terms of socio-demographic and clinical factors, pain severity (numerical pain rating scale, NPRS), disability (Roland Morris Disability Questionnaire, RMDQ), as well as anxiety and depression (Hospital Anxiety and Depression Scale, HADS). Of 210 patients, 26 (12.4%) have neuropathic low back pain. Neuropathic pain is associated with non-Chinese ethnicity, higher body mass index and pain radiation below the knee. Patients with neuropathic pain have significantly higher NPRS and RMDQ scores, and there are more subjects with anxiety on HADS. However, there are no differences between the groups in age, gender, pain duration or underlying diagnosis of low back pain. The prevalence of neuropathic low back pain in a multi-ethnic Malaysian cohort is lower than previously reported in other populations with possible differences between ethnic groups. It is associated with greater pain severity, disability and anxiety.
    Study site: Spine Clinic, University of Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia
  12. Chai CH, Yuki N, Nor HM, Goh KJ, Shahrizaila N
    Pract Neurol, 2012 Oct;12(5):328-31.
    PMID: 22976064 DOI: 10.1136/practneurol-2011-000205
  13. Tai ML, Norhatta N, Goh KJ, Moy FM, Sujarita R, Asraff AA, et al.
    PLoS One, 2015;10(1):e0115838.
    PMID: 25629323 DOI: 10.1371/journal.pone.0115838
    BACKGROUND: Dyspepsia and headache frequently co-exist, but the clinical implication of this association is uncertain. We planned to examine the prevalence and impact of dyspepsia in adults with headache.
    METHODS: A cross-sectional study was conducted in a secondary care setting. Clinical, psychological and health-related quality of life (HRQOL) data were compared between subjects with headache and controls (non-headache subjects). The impact of dyspepsia was analysed further in subjects with headache alone.
    RESULTS: 280 subjects (93 cases with headache and 187 matched controls) were recruited. The following baseline characteristics of subjects were as follows: mean age 45.0 ± 17.3 years, 57.0% females and ethnic distribution-Malaysian = 45 (48.4%), Chinese n = 24 (25.8%) and Indians n = 24 (25.8%). Headache sub-types among cases with headache were as follows: tension-type headache (TTH) n = 53 (57.0%) and migraine n = 40 (43.0%). Dyspepsia was more prevalent in cases with headache compared to controls (25.8% vs 12.8%, p = 0.011), and headache was independently associated with dyspepsia (OR 2.75, 95% CI 1.39-5.43). Among cases with headache, there was a trend towards a higher prevalence of dyspepsia in those with migraine (27.5%) compared to TTH (24.5%). Subjects with headache and dyspepsia, compared to those with headache alone, had a greater severity of headache symptoms (63.67 ± 22.85 mm vs 51.20 ± 24.0 mm VAS, p = 0.029). Overall HRQOL scores were lower in headache subjects with dyspepsia (EQ-5D summary score 0.82 ± 0.18 vs 0.90 ± 0.16, p = 0.037 and EQ-5D VAS 62.08 ± 17.50 mm vs 72.62 ± 18.85 mm, p = 0.018), compared to those without dyspepsia.
    CONCLUSION: Dyspepsia is associated with more severe headache symptoms and results in a lower HRQOL in patients with headache.
  14. Ambang T, Tan JS, Ong S, Wong KT, Goh KJ
    PLoS One, 2016;11(9):e0162760.
    PMID: 27611456 DOI: 10.1371/journal.pone.0162760
    Telbivudine, a thymidine nucleoside analog, is a common therapeutic option for chronic hepatitis B infection. While raised serum creatine kinase is common, myopathy associated with telbivudine is rare. Reports on its myopathological features are few and immunohistochemical analyses of inflammatory cell infiltrates have not been previously described. We describe the clinical, myopathological and immunohistochemical features of four patients who developed myopathy after telbivudine therapy for chronic hepatitis B infection. All four patients presented with progressive proximal muscle weakness, elevation of serum creatine kinase and myopathic changes on electromyography. Muscle biopsies showed myofiber degeneration/necrosis, regeneration, and fibers with cytoplasmic bodies and cytochrome c oxidase deficiency. There was minimal inflammation associated with strong sarcolemmal overexpression of class I major histocompatibility complex (MHC class I). Upon withdrawal of telbivudine, muscle weakness improved in all patients and eventually completely resolved in three. In our series, telbivudine-associated myopathy is characterized by necrotizing myopathy which improved on drug withdrawal. Although the occasional loss of cytochrome c oxidase is consistent with mitochondrial toxicity, the overexpression of MHC class I in all patients could suggest an underlying immune-mediated mechanism which may warrant further investigation.
  15. Ong CE, Ahmad R, Goh YK, Azizan KA, Baharum SN, Goh KJ
    PLoS One, 2021;16(12):e0262029.
    PMID: 34972183 DOI: 10.1371/journal.pone.0262029
    Various phenolic compounds have been screened against Ganoderma boninense, the fungal pathogen causing basal stem rot in oil palms. In this study, we focused on the effects of salicylic acid (SA) on the growth of three G. boninense isolates with different levels of aggressiveness. In addition, study on untargeted metabolite profiling was conducted to investigate the metabolomic responses of G. boninense towards salicylic acid. The inhibitory effects of salicylic acid were both concentration- (P < 0.001) and isolate-dependent (P < 0.001). Also, growth-promoting effect was observed in one of the isolates at low concentrations of salicylic acid where it could have been utilized by G. boninense as a source of carbon and energy. Besides, adaptation towards salicylic acid treatment was evident in this study for all isolates, particularly at high concentrations. In other words, inhibitory effect of salicylic acid treatment on the fungal growth declined over time. In terms of metabolomics response to salicylic acid treatment, G. boninense produced several metabolites such as coumarin and azatyrosine, which suggests that salicylic acid modulates the developmental switch in G. boninense towards the defense mode for its survival. Furthermore, the liquid chromatography time-of-flight mass spectrometry (LC-TOF-MS) analysis showed that the growth of G. boninense on potato dextrose agar involved at least four metabolic pathways: amino acid metabolism, lipid pathway, tryptophan pathway and phenylalanine pathway. Overall, there were 17 metabolites that contributed to treatment separation, each with P<0.005. The release of several antimicrobial metabolites such as eudistomin I may enhance G. boninense's competitiveness against other microorganisms during colonisation. Our findings demonstrated the metabolic versatility of G. boninense towards changes in carbon sources and stress factors. G. boninense was shown to be capable of responding to salicylic acid treatment by switching its developmental stage.
  16. Tay CG, Lee VWM, Ong LC, Goh KJ, Ariffin H, Fong CY
    Pediatr Blood Cancer, 2017 Aug;64(8).
    PMID: 28139029 DOI: 10.1002/pbc.26471
    BACKGROUND: Vincristine, an essential component of childhood acute lymphoblastic leukaemia (ALL) therapeutic protocols, is associated with dose-dependent neurotoxicity, but its long-term morbidity in treated children has not been clearly elucidated. The aim of this study is to determine the prevalence of vincristine-induced peripheral neuropathy (VIPN) among Malaysian childhood ALL survivors and its impact on motor function and quality of life.

    PROCEDURE: Survivors of childhood ALL aged 4-18 years who had completed chemotherapy for 2 years or more were evaluated for VIPN using both the clinical Total Neuropathy Score (cTNS) and nerve conduction studies. Motor function and quality of life of the survivors were assessed via the Bruininks-Oseretsky Test of Motor Proficiency Brief Form, Second Edition (BOT-2 Brief Form) and the Paediatric Quality of Life version 4.0 Generic Core Scales (PedsQL4.0) questionnaire, respectively.

    RESULTS: One hundred and one survivors with a duration of follow-up ranging from 2.0 to 10.3 years were recruited. Twenty-seven (26.7%) had abnormal cTNS scores and 69 (68.3%) had electrophysiological evidence of neuropathy. Of these, 16 (15.8%) had combined clinical and electrophysiological neuropathy (VIPN). Those previously treated on the intermediate- or high-risk treatment stratification arms had a higher risk of developing VIPN (67.3 vs. 32.7%; odds ratio [OR]: 9.06, 95% confidence interval [CI]: 1.14-71.86; P = 0.014). Survivors with VIPN had significantly lower quality of life scores in the physical (P = 0.024) and social domains (P = 0.039) compared with peers without VIPN, but no association with poorer motor function was observed.

    CONCLUSIONS: Sixteen percent of ALL survivors had VIPN. VIPN should be increasingly recognised as a late effect of chemotherapy, as it significantly affects physical and social function quality of life.

  17. Goh KJ, Wong KT, Nishino I, Minami N, Nonaka I
    Neuromuscul Disord, 2005 Mar;15(3):262-4.
    PMID: 15725589
    Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of middle age presenting as progressive dysphagia and eyelid ptosis, due to short expansions of the GCG trinucleotide repeat (from GCG6 to GCG8-13) in the polyadenylate binding-protein nuclear 1 (PABPN1) gene. OPMD is rarely seen in Asians and morphologically and/or genetically confirmed cases have been reported in Japanese kindreds only. We report a 64 year old Chinese-Malaysian woman who presented with progressive dysphagia and bilateral ptosis for about 6 years. Her mother and elder brother (both deceased) were believed to be affected. Muscle histopathology revealed angulated fibres with rimmed vacuoles. Genetic analysis showed repeat expansion in one allele to (GCG)9 while normal in the other (GCG)6. This is the first non-Japanese Asian family with genetically confirmed OPMD.
  18. Low SC, Md Sari NA, Tan CY, Ahmad-Annuar A, Wong KT, Law WC, et al.
    Neuromuscul Disord, 2021 07;31(7):642-650.
    PMID: 34059423 DOI: 10.1016/j.nmd.2021.03.008
    We report the clinical and genetic characteristics of hereditary transthyretin amyloidosis in the multi-ethnic Malaysian population. Subjects with genetically confirmed transthyretin amyloidosis seen between 2001 till August 2020 were included. There were 30 patients and 14 asymptomatic carriers, of which 26 (59.1%) were men. The majority (86.7%) were ethnic Chinese while two (6.7%) each were Malay and Sri Lankan Tamil ethnicity respectively. Among patients, mean age of symptom-onset was 55.9 ± 9.8 years with mean duration from symptom-onset to diagnosis of 3.2 ± 2.5 years. Common presenting symptoms were sensory symptoms of upper limbs (43.3%), symmetric sensory symptoms of both lower limbs (16.7%) and autonomic symptoms (16.7%). Nerve conduction studies showed sensorimotor polyneuropathy in 25 (83.3%) patients (22, axonal). Abnormal echocardiograms were seen in 24 (80%) patients, although 15 were asymptomatic. Of six different TTR mutations found, Ala97Ser was the commonest, and found exclusively in 84.6% of Chinese patients. Other mutations among Chinese patients were Val30Met, Ala25Thr and Asp39Val. Our Malay and Tamil patients had Glu54Lys and Gly47Val mutations respectively. In conclusion, TTR Ala97Ser is the commonest mutation among ethnic Chinese Malaysians which presented with late-onset progressive sensorimotor polyneuropathy, autonomic dysfunction and subclinical cardiac involvement.
  19. Ambrose KK, Ishak T, Lian LH, Goh KJ, Wong KT, Ahmad-Annuar A, et al.
    Neurol India, 2017 5 11;65(3):512-517.
    PMID: 28488611 DOI: 10.4103/neuroindia.NI_237_16
    INTRODUCTION: MicroRNAs (miRNAs) are short RNA molecules of approximately 22 nucleotides that function as post-transcriptional regulators of gene expression. They are expressed in a tissue-specific manner and show different expression patterns in development and disease; hence, they can potentially act as disease-specific biomarkers. Several miRNAs have been shown to be deregulated in plasma and skeletal muscles of myotonic dystrophy type 1 (DM1) patients.

    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.

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