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A mother with variant Turner syndrome and two daughters with trisomy X: a case report

Ramachandram S, Keng WT, Ariffin R, Ganesan V

J Genet, 2013;92(2):313-6.
PMID: 23970090
Fulltext Antiepileptic drug utilisation and seizure outcome among paediatric patients in a Malaysian public hospital

Hasan SS, Bahari MB, Babar ZU, Ganesan V

Singapore Med J, 2010 Jan;51(1):21-7.
PMID: 20200771

INTRODUCTION: The primary purpose of this study was to evaluate the utilisation pattern and seizure outcome of newer and older antiepileptic drugs in paediatric clinical practice in a Malaysian hospital setting.
METHODS: Over a two-month period, all paediatric epilepsy patients from Penang General Hospital, Malaysia who were diagnosed according to the classification of the International League Against Epilepsy were followed up prospectively, and the patients' information was gathered with the help of a validated data collection form. This included demographic characteristics, monotherapy and polytherapy of antiepileptic drugs, as well as the number of seizures experienced.
RESULTS: Partial seizures, including complex and simple partial seizures (47.2 percent), followed by generalised seizures (40 percent), were the most common seizure types found in this study. An average of 1.51 antiepileptic drugs per patient was prescribed, with 54.3 percent of the patients on monotherapy and 45.7 percent on polytherapy. Overall, sodium valproate was the most frequently prescribed antiepileptic drug (36.8 percent), followed by carbamazepine (30.2 percent) and lamotrigine (10.4 percent). Carbamazepine was the most frequently prescribed monotherapy (28.6 percent), followed by sodium valproate (17.1 percent). The newer antiepileptic drugs were also found to be used as monotherapy in 7.2 percent of the cases. Moreover, a significant difference was observed between the older and newer antiepileptic drugs in terms of the number of seizures experienced (p=0.027). Most (75 percent) of the seizure-free patients were on carbamazepine monotherapy.
CONCLUSION: Monotherapy was the most frequently used remedy in all forms of epilepsy. Overall, sodium valproate was the most commonly used drug, while carbamazepine was found to be more frequently used as monotherapy. There was a significant difference found between the older and newer antiepileptic drugs, with 87.5 percent of seizure-free patients on older antiepileptic drugs.

Study site: all paediatric epilepsy patients from Penang General Hospital
Fulltext Cyber-entrepreneurial intention among students in Public Universities: evidence from an Emerging Country

Vafaei-Zadeh A, Ganesan V, Hanifah H, Teoh AP, Ramayah T

Educ Inf Technol (Dordr), 2023;28(5):5385-5419.
PMID: 36373038 DOI: 10.1007/s10639-022-11362-4

This paper aims to investigate the factors affecting cyber-entrepreneurial intentions among final-year students of public universities in Malaysia utilizing the Theory of Planned Behavior (TPB) and Theory of Self-Efficacy (TSE). The quantitative survey-based research method was adopted to conduct the study using both final-year undergraduate and postgraduate students from business and management schools to test the proposed research framework. A total of 364 useful responses were received to be analyzed for this study. Results showed that attitude toward entrepreneurship, entrepreneurial creativity, entrepreneurial knowledge, entrepreneurial orientation, entrepreneurial self-efficacy, and opportunity recognition were positively correlated with cyber-entrepreneurial intentions except for personal innovativeness in technology and subjective norm, which was insignificant. This study provides insights into the way individual's intention towards cyber-entrepreneurship could be ameliorated as a career choice, particularly for final-year undergraduate and postgraduate students of business and management schools in Malaysian public universities. It helps determine appropriate approaches to direct the government, educators, and policymakers. The findings from this study invaluably contribute to the existing literature by establishing correlation between TPB and TSE and inquiring into their ultimate influences on cyber-entrepreneurial intentions.
Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors

Tay CG, Fong CY, Li L, Ganesan V, Teh CM, Gan CS, et al.

J Clin Neurosci, 2020 Feb;72:468-471.
PMID: 31831253 DOI: 10.1016/j.jocn.2019.12.007

Congenital myasthenic syndrome (CMS) is a heterogeneous group of inherited disorder which does not associate with anti-acetylcholine receptor (AChR) antibody. The presence of AChR autoantibody is pathogenic and highly sensitive and specific for autoimmune myasthenia gravis (MG). We describe 2 children from unrelated families who presented with hypotonia, ptosis and fatigability in early infancy with anti-AChR antibodies detected via ELISA on 2 separate occasions in the sera. Both were treated as refractory autoimmune MG due to poor clinical response to acetylcholinesterase inhibitor and immunotherapy. In view of the atypical clinical features, genetic studies of CMS were performed and both were confirmed to have novel pathogenic mutations in the COLQ gene. To the best of our knowledge, the presence of anti-AChR antibody in COLQ-related CMS has never been reported in the literature. The clinical presentation of early onset phenotype, and refractoriness to acetylcholinesterase inhibitor and immunotherapy should prompt CMS as a differential diagnosis.
Practices associated with serum antiepileptic drug level monitoring at a pediatric neurology clinic: a Malaysian experience

Salih MR, Bahari MB, Hassali MA, Shafie AA, Al-Lela OQ, Abd AY, et al.

J Pharm Pract, 2013 Jun;26(3):192-7.
PMID: 22797836 DOI: 10.1177/0897190012451926

OBJECTIVES: To assess the practices associated with the application of therapeutic drug monitoring (TDM) for antiepileptic drugs (AEDs) in the management of children with structural-metabolic epilepsy.
METHODS: It was a retrospective chart review and included children aged ≥2 years old with structural-metabolic epilepsy, treated with AEDs, and received TDM. The data were extracted from the medical records.
RESULTS: Thirty-two patients were identified with 50 TDM assays. In two thirds of the assays, "check level" and "recheck level" were the reasons behind the requesting of serum level monitoring of AEDs. Knowledge of serum AED levels led to alterations in the management in 60% of the assays. Thirty-two (76%) pediatrician's actions were consistent with the recommendation of TDM pharmacist. Forty-nine (98%) levels were appropriately indicated. In relation to the appropriateness of sampling time, 9 (18%) levels were not assessed due to missing data. Twenty-seven (54%) levels were appropriately sampled.
CONCLUSIONS: More studies should be designed to improve the component of the current TDM request form, especially in the reason section. By the same token, the number of pointless assays and the costs to the health care system can be reduced both by enhancing and improving the educational standards of the requesting neurologists.
KEYWORDS: Malaysia; epilepsy; neurology; pediatrics; therapeutic drug monitoring
Study site: Paediatric Neurology Clinic, Hospital Pulau Pinang, Malaysia
Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy

Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, et al.

Clin Genet, 2018 02;93(2):266-274.
PMID: 28556953 DOI: 10.1111/cge.13061

The seizure threshold 2 (SZT2) gene encodes a large, highly conserved protein that is associated with epileptogenesis. In mice, Szt2 is abundantly expressed in the central nervous system. Recently, biallelic SZT2 mutations were found in 7 patients (from 5 families) presenting with epileptic encephalopathy with dysmorphic features and/or non-syndromic intellectual disabilities. In this study, we identified by whole-exome sequencing compound heterozygous SZT2 mutations in 3 patients with early-onset epileptic encephalopathies. Six novel SZT2 mutations were found, including 3 truncating, 1 splice site and 2 missense mutations. The splice-site mutation resulted in skipping of exon 20 and was associated with a premature stop codon. All individuals presented with seizures, severe developmental delay and intellectual disabilities with high variability. Brain MRIs revealed a characteristic thick and short corpus callosum or a persistent cavum septum pellucidum in each of the 2 cases. Interestingly, in the third case, born to consanguineous parents, had unexpected compound heterozygous missense mutations. She showed microcephaly despite the other case and previous ones presenting with macrocephaly, suggesting that SZT2 mutations might affect head size.
Quality of life of children with tuberous sclerosis complex

Fong CY, Ng K, Kong AN, Ong LC, Rithauddin MA, Thong MK, et al.

Arch Dis Child, 2019 10;104(10):972-978.
PMID: 31122923 DOI: 10.1136/archdischild-2018-316394

AIM: Evaluation of impaired quality of life (QOL) of Malaysian children with tuberous sclerosis complex (TSC) and its possible risk factors.
METHOD: Cross-sectional study on 68 parents of Malaysian children aged 2-18 years with TSC. QOL was assessed using proxy-report Paediatric Quality of Life Inventory (PedsQL) V.4.0, and scores compared with those from a previous cohort of healthy children. Parents also completed questionnaires on child behaviour (child behaviour checklist (CBCL)) and parenting stress (parenting stress index-short form). Multiple regression analysis was used to determine sociodemographic, medical, parenting stress and behavioural factors that impacted on QOL.
RESULTS: The mean proxy-report PedsQL V.4.0 total scale score, physical health summary score and psychosocial health summary score of the patients were 60.6 (SD 20.11), 65.9 (SD 28.05) and 57.8 (SD 19.48), respectively. Compared with healthy children, TSC patients had significantly lower mean PedsQL V.4.0 total scale, physical health and psychosocial health summary scores (mean difference (95% CI): 24 (18-29), 20 (12-27) and 26 (21-31) respectively). Lower total scale scores were associated with clinically significant CBCL internalising behaviour scores, age 8-18 years and Chinese ethnicity. Lower psychosocial health summary scale scores were associated with clinically significant CBCL internalising behaviour scores, Chinese ethnicity or >1 antiepileptic drug (AED).
CONCLUSION: Parents of children with TSC reported lower PedsQL V.4.0 QOL scores in all domains, with psychosocial health most affected. Older children, those with internalising behaviour problems, of Chinese ethnicity or on >1 AED was at higher risk of lower QOL. Clinicians need to be vigilant of QOL needs among children with TSC particularly with these additional risk factors.
GRIN2D variants in three cases of developmental and epileptic encephalopathy

Tsuchida N, Hamada K, Shiina M, Kato M, Kobayashi Y, Tohyama J, et al.

Clin Genet, 2018 12;94(6):538-547.
PMID: 30280376 DOI: 10.1111/cge.13454

N-methyl-d-aspartate (NMDA) receptors are glutamate-activated ion channels that are widely distributed in the central nervous system and essential for brain development and function. Dysfunction of NMDA receptors has been associated with various neurodevelopmental disorders. Recently, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. In this study, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy. All altered residues were highly conserved across vertebrates and among the four GluN2 subunits. Structural consideration indicated that all three variants are probably to impair GluN2D function, either by affecting intersubunit interaction or altering channel gating activity. We assessed the clinical features of our three cases and compared them to those of the two previously reported GRIN2D variant cases, and found that they all show similar clinical features. This study provides further evidence of GRIN2D variants being causal for epilepsy. Genetic diagnosis for GluN2-related disorders may be clinically useful when considering drug therapy targeting NMDA receptors.
Fulltext Outbreak of foodborne disease in a boarding school, Negeri Sembilan state, Malaysia, 2021

Bujang NNA, Wahil MSA, Abas SA, Amin KHAK, Zulkifli NI, Shah SM, et al.

Western Pac Surveill Response J, 2023;14(3):1-7.
PMID: 37955032 DOI: 10.5365/wpsar.2023.1.4.3.1043

OBJECTIVE: Foodborne disease is a significant global public health concern, with Bacillus cereus being a frequent cause of outbreaks. However, due to the relatively mild symptoms caused by infection with B. cereus, the shorter duration of illness and the challenges of testing for it in both stool and food samples, outbreaks are often underreported. This report describes the epidemiology of cases of foodborne illness, the causative agent and risk factors associated with an outbreak in a boarding school in Seremban district, Negeri Sembilan state, Malaysia, that occurred in November 2021.
METHODS: Epidemiological, environmental and laboratory investigations were performed. A case was defined as any person with abdominal pain, vomiting or diarrhoea that occurred after consuming food served by the canteen at the school. The data were analysed using Microsoft Excel and the Statistical Package for the Social Sciences (SPSS).
RESULTS: A total of 152 cases were identified among the 597 students, giving an attack rate of 25.5%. All cases were females aged 13-17 years. They presented with abdominal pain (100%), nausea (97.4%, 148), vomiting (78.3%, 119) or diarrhoea (61.8%, 94), or a combination of these. The mode of transmission of the outbreak was a continual common source. The foods associated with becoming a case were beef rendang (a dry curry) (odds ratio [OR]: 20.54, 95% CI: 4.89-86.30), rice (OR: 19.62, 95% CI: 2.62-147.01), rice cubes (OR: 18.17, 95% CI: 4.31-76.55) and vermicelli (OR: 17.02, 95% CI: 4.03-71.86). Cross-contamination and inadequate thawing and storage temperatures contributed to the outbreak.
DISCUSSION: This outbreak of foodborne illness at a boarding school was likely caused by B. cereus. The findings highlight the importance of proper food preparation, temperature monitoring, hygiene practices among food handlers and compliance with food safety guidelines.
Fulltext Epidemiology of COVID-19 cases and vaccination coverage in Seremban District, Malaysia, 2021

Khairul Amin KHA, Bujang NNA, Abas SA, Zulkifli NI, Amir SA, Shah SM, et al.

Western Pac Surveill Response J, 2023;14(2):1-7.
PMID: 37475779 DOI: 10.5365/wpsar.2023.14.2.985

OBJECTIVE: Malaysia's first case of coronavirus disease (COVID-19) was reported in January 2020, with the first case in the state of Negeri Sembilan diagnosed on 17 February 2020. The National COVID-19 Immunization Programme commenced in early March 2021 in Negeri Sembilan. This study describes the COVID-19 cases and vaccination coverage in Seremban District, Negeri Sembilan, during 2021.
METHODS: The demographic and clinical characteristics of COVID-19 cases and the district's vaccination coverage were described. Vaccination coverage was plotted against COVID-19 cases on the epidemic curve. The χ2 test was used to examine the differences between the vaccination status of COVID-19 cases and severity category, hospitalization status and mortality.
RESULTS: In Seremban District, there were 65 879 confirmed cases of COVID-19 in 2021. The data revealed that the  21-30-year age group had the highest proportion of cases (16 365; 24.8%), the majority of cases were male (58.3%), and most cases were from the subdistrict of Ampangan (23.1%). The majority of cases were Malaysian. Over half (53.5%) were symptomatic, with fever (29.8%) and cough (22.8%) being the most frequently reported symptoms. COVID-19 vaccination status was significantly associated with severity category, hospitalization and mortality (P