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  1. Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene
    Hung KL, Wang JS, Keng WT, Chen HJ, Liang JS, Ngu LH, et al.
    Pediatr Neurol, 2013 Sep;49(3):185-90.
    PMID: 23835273 DOI: 10.1016/j.pediatrneurol.2013.04.021
    X-linked adrenoleukodystrophy is caused by a defective peroxisomal membrane transporter, ABCD1, responsible for transporting very-long-chain fatty acid substrate into peroxisomes for degradation. The main biochemical defect, which is also one of the major diagnostic hallmarks, of X-linked adrenoleukodystrophy is the accumulation of saturated very-long-chain fatty acids in all tissues and body fluids.
  2. Clinical profile of Malay children with optic neuritis
    Shatriah I, Adlina AR, Alshaarawi S, Wan-Hitam WH
    Pediatr Neurol, 2012 May;46(5):293-7.
    PMID: 22520350 DOI: 10.1016/j.pediatrneurol.2012.02.020
    Limited data are available on optic neuritis in Asian children. Clinical profiles tend to vary with different races. We aimed to determine the clinical manifestations, visual outcomes, and etiologies of optic neuritis in Malaysian children, and discuss the literature of optic neuritis in Asian children. A retrospective study involving 14 children with optic neuritis was performed at Hospital Universiti Sains Malaysia between July 2005 and January 2010 (follow-up, 18-60 months). Clinical features, laboratory results, possible etiologies, and visual acuity after 1 year were studied. Females were predominant (mean age at presentation, 11.1 years). All patients manifested bilateral involvement. Swollen optic discs were observed in 92.9% of eyes; 60.7% of patients demonstrated a visual acuity of 6/60 (or 20/200) or worse on presentation, whereas 14.3% remained at 6/60 (or 20/200) or worse, 1 year after their attack. Cecocentral scotoma comprised the most common visual field defect. Infection contributed to 50.0% of cases; 14.3% progressed to multiple sclerosis during follow-up, with no evidence of recurrent optic neuritis. The clinical profiles and etiologies of optic neuritis in Malay children differ slightly compared with other optic neuritis studies of Asian children. The frequency of progression to multiple sclerosis is relatively lower.
  3. The Clinical Characteristics and Outcomes of Infantile Seizures in the First Year of Life: A Single-Center Study
    Anuar MA, Zainal Abidin M', Tan SH, Yeap CF, Yahaya NA
    Pediatr Neurol, 2024 Jan;150:10-14.
    PMID: 37931500 DOI: 10.1016/j.pediatrneurol.2023.10.004
    BACKGROUND: Epilepsy has a high incidence among infants during their first year of life, yet the prognosis can vary significantly. Although considerable research has been conducted on infantile spasms, studies examining infantile-onset epilepsy, excluding infantile spasms, remain limited, particularly concerning the factors influencing outcomes. Therefore, our study aims to elucidate seizure control, developmental outcomes, and prognostic factors in infants with epilepsy during their first year of life, within a single-center study in Malaysia.

    METHODS: We retrieved data from patients who experienced seizures before age 12 months and were followed for over two years, using electronic patient records at Hospital Raja Perempuan Zainab II in Kelantan, a state in Malaysia's east coast. We retrospectively reviewed these records and assessed clinical outcomes based on the last follow-up.

    RESULTS: Of 75 patients, 61 (81.3%) achieved good seizure control or remission. At the last follow-up, 24 (32%) exhibited developmental delay, whereas 19 (25.3%) displayed abnormal neuroimaging. Patients with abnormal background electroencephalographic (EEG) activity, as well as abnormal radiological findings, were more likely to experience poor seizure control and unfavorable developmental outcomes (P 

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