Displaying publications 1 - 20 of 69 in total

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  1. Ho LY, Chu PS, Consigliere DT, Zainuddin ZM, Bolong D, Chan CK, et al.
    World J Urol, 2018 Jan;36(1):79-86.
    PMID: 29051978 DOI: 10.1007/s00345-017-2097-2
    PURPOSE: The overall objective of the survey was to systematically examine patients' perspectives on lower urinary tract symptoms (LUTS) and their treatment in Southeast Asia.
    METHODS: A multinational cross-sectional survey involving adult men seeking consultation at urology outpatient clinics because of LUTS in Southeast Asia was conducted using convenience sampling. Self-reported prevalence, bother, treatment and treatment satisfaction of selected LUTS including urgency, nocturia, slow stream, and post-micturition dribble were evaluated.
    RESULTS: In total, 1535 eligible patients were enrolled in the survey. A majority of respondents were aged 56-75 years, not employed, and had not undergone prostate operation before. Overall, the self-reported prevalence of nocturia was 88% (95% CI 86-90%), slow stream 61% (95% CI 59-63%), post micturition dribble 55% (95% CI 52-58%), and urgency 52% (95% CI 49-55%). There were marked differences in the country specific prevalence of LUTS complaints. Frequently, symptoms coexisted and were combined with nocturia. More than half of patients felt at least some degree of bother from their symptoms: 61% for urgency, 57% for nocturia, 58% for slow stream, and 60% for post-micturition dribble. Before seeing the present urologists, nearly half of patients have received some form of prescribed treatment and more than 80% of patients indicated they would like to receive treatment.
    CONCLUSION: Men who sought urologist care for LUTS often presented with multiple symptoms. Nocturia emerged as the most common symptom amongst the four core symptoms studied.
    Study site in Malaysia: Urology clinic, Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM), Kuala Lumpur, Malaysia
  2. Chen CD, Lee HL, Chan CK, Ang CL, Azahari AH, Lau KW, et al.
    Trop Biomed, 2009 Dec;26(3):360-5.
    PMID: 20237452
    The bioefficacy of nine commercial formulations of temephos against Aedes aegypti, Aedes albopictus and Culex quinquefasciatus larvae were evaluated in the laboratory. WHO larval bioassay with operational dosage of temephos at 1 mg/L was performed. The larval mortality was recorded every 5 minutes until complete mortality was achieved. All formulations of temephos exhibited various toxicity level against Ae. aegypti, Ae. albopictus and Cx. quinquefasciatus. Generally, larvae of Cx. quinquefasciatus was susceptible to all formulations of temephos, followed by Ae. aegypti and Ae. albopictus.
  3. Choo SW, Chong JL, Gaubert P, Hughes AC, O'Brien S, Chaber AL, et al.
    Sci Total Environ, 2022 Feb 14.
    PMID: 35176378 DOI: 10.1016/j.scitotenv.2022.153666
  4. Saw A, Chan CK, Penafort R, Sengupta S
    Med J Malaysia, 2006 Feb;61 Suppl A:62-5.
    PMID: 17042233
    Patients treated with external fixation for limb reconsturciton or fracture stabilization equire regular and prolongedperiod of pin-tract care involving frequent visits to clinic and dressing traditionally carried out by trained nurses or medical assistants. A simple method of do-it-yourself dressing was introduced in our institution and this study was undertaken to evaluate the effectiveness of the protocol. Sixty patients (40 trauma-related problems and 20 congenital or developmental disorders) were enrolled into the study. Following application of external fixation, the patients and/or their caretakers were taught on how to do pin-site dressing using normal saline or drinking water as cleansing solution on daily basis. Patients were discharged on the second or third post-operative day and were followed-up every two weeks for an average 182 days (range 66 to 379 days) with special attention on identifying pin-tract infection. A simple grading system for pin-tract infections was proposed. Of 40 patients with trauma-related problems. 65% were post-traumatic infections. There were 788 metal-skin interfaces (239 half-pin fixations and 549 tensioned wire fixations. A total 143 metal-skin interface infections (18.1%) involving half-pin sites (41.3%) and tensioned wire sites (58.7%) was noted. Majority were grade I infections (79.7%), 18.8% grade II and only 1.4% grade III. Most infections (81%)were caused by Staphylococcus aureus. Grade I infections were successfully treated with frequent dressing, grade II by adjunctive oral antibiotic but grade III infections required removal of fixator. All eventually healed. Do yourself non-sterile dressing of metal-skin interfaces is a cost-effective method of pin-site care with a low infection rate. The infections were sucessfully treated using guidelines according to the proposed classification of pin-tract infections.
  5. Chan CK, Singh J, Rasid BK, Devaraj T
    Med J Malaysia, 1994 Jun;49(2):122-31.
    PMID: 8090090
    2,124 cases of cancer diagnosed and/or treated in Penang between 1987-1990 were reported to the National Cancer Registry of Malaysia by hospitals in Penang. 1,762 met the criteria for Penang incident cases first diagnosed between 1987-1990, and were the subjects on which all subsequent analyses were based. 85 per cent of case notifications were from Mount Miriam Hospital. Among males, all-site cancer incidence rates (age-standardised) were highest among Chinese, and lowest among Malays. Among females, the Indian female incidence rate was highest, higher than that of any other ethnic-gender sub-group. Site-specific cancer rates varied according to ethnicity and gender, but overall the four most frequent cancers reported from Penang were breast, lung, cervix and nasopharynx cancers. It needs to be emphasised that all these results are highly tentative since they are based on notified cancer occurrences and hence are very uncertain proxies for true cancer incidence. Based on incidence rates from the Singapore Cancer Registry (1978-1982), the expected number of incident cases in 1989 for Penang (Malays, Chinese and Indians combined) was 1,561. The number notified to the National Cancer Registry was 496. This underlines the tentative nature of this analysis of the returns for 1987-1990 from Penang.
  6. Koh SM, Chan CK, Teo SH, Singh S, Merican A, Ng WM, et al.
    Knee, 2020 Jan;27(1):26-35.
    PMID: 31917106 DOI: 10.1016/j.knee.2019.10.028
    PURPOSE: Osteoarthritis (OA) of the knee is a multifactorial degenerative disease typically defined as the 'wear and tear' of articular joint cartilage. However, recent studies suggest that OA is a disease arising from chronic low-grade inflammation. We conducted a study to investigate the relationship between chronic inflammatory mediators present in both the systemic peripheral blood system and localised inflammation in synovial fluid (SF) of OA and non-OA knees; and subsequently made direct comparative analyses to understand the mechanisms that may underpin the processes involved in OA.

    METHODS: 20-Plex proteins were quantified using Human Magnetic Luminex® assay (R&D Systems, USA) from plasma and SF of OA (n = 14) and non-OA (n = 14) patients. Ingenuity Pathway Analysis (IPA) software was used to predict the relationship and possible interaction of molecules pertaining to OA.

    RESULTS: There were significant differences in plasma level for matrix metalloproteinase (MMP)-3, interleukin (IL)-27, IL-8, IL-4, tumour necrosis factor-alpha, MMP-1, IL-15, IL-21, IL-10, and IL-1 beta between the groups, as well as significant differences in SF level for IL-15, IL-8, vascular endothelial growth factor (VEGF), MMP-1, and IL-18. Our predictive OA model demonstrated that toll-like receptor (TLR) 2, macrophage migration inhibitory factor (MIF), TLR4 and IL-1 were the main regulators of IL-1B, IL-4, IL-8, IL-10, IL-15, IL-21, IL-27, MMP-1 and MMP-3 in the plasma system; whilst IL-1B, TLR4, IL-1, and basigin (BSG) were the regulators of IL-4, IL-8, IL-10, IL-15, IL-18, IL-21, IL-27, MMP-1, and MMP-3 in the SF system.

    CONCLUSION: The elevated plasma IL-8 and SF IL-18 may be associated with the pathogenesis of OA via the activation of MMP-3.

  7. Park KS, Seon JK, Lee KB, Kim SK, Chan CK, Yoon TR
    J Arthroplasty, 2017 02;32(2):503-509.
    PMID: 27546473 DOI: 10.1016/j.arth.2016.07.010
    BACKGROUND: This study aims at determining the average long-term result of revision total hip arthroplasty (THA) using the acetabular reinforcement ring with a hook (ARRH) and bone grafting in severe acetabular bony defect. Expected 15-year survival of ARRH in revision THA is included in the study.

    METHODS: Retrospective review of 48 patients (48 hips) with follow-up duration of average 11.4 years (range, 6.1-21.4 years) was conducted. At each follow-up, Harris hip score was used to assess functional outcome, and radiographic acetabular component osteolysis was measured by DeLee and Charnley classification. Bone defects were assessed preoperatively and intraoperatively using American academy of orthopedic surgeons and Paprosky classification. The common modes of ARRH failures were evaluated. Bone consolidation, presence of heterotopic ossification, and complications such as infection and dislocation were recorded.

    RESULTS: The bone defects were varied and included cavitary, segmental, and combined defects without any pelvic discontinuity. Mean Harris hip score improved from 52.6 points preoperatively to 82.0 points postoperatively. Nine acetabular revisions and 3 stem revisions (2 concurrent with acetabular revisions and 1 isolated stem revision) were performed. There were 5 infected cases and 1 patient with recurrent dislocation. The 11.4-year survival of revision THA with ARRH was 71% as the end point for acetabular revision surgery for any reason. The expected 15-year survival of revision THA with ARRH was 60%. The most common failure mode of ARRH was superomedial migration followed by lateral migration.

    CONCLUSION: ARRH combined with bone grafting produces relatively good average long-term clinical results.

  8. Ho JPY, Merican AM, Hashim MS, Abbas AA, Chan CK, Mohamad JA
    J Arthroplasty, 2017 10;32(10):3176-3183.
    PMID: 28579444 DOI: 10.1016/j.arth.2017.04.060
    BACKGROUND: The posterior tibial slope (PTS) is an important consideration in knee arthroplasty. However, there is still no consensus for the optimal slope. The objectives of this study were (1) to reliably determine the native PTS in this population using 3-dimensional computed tomography scans and (2) to determine the normal reference range for PTS in this population.

    METHODS: One hundred computed tomography scans of disease-free knees were analyzed. A 3-dimensional reconstructed image of the tibia was generated and aligned to its anatomic axis in the coronal and sagittal planes. The tibia was then rotationally aligned to the tibial plateau (tibial centroid axis) and PTS was measured from best-fit planes on the surface of the proximal tibia and individually for the medial and lateral plateaus. This was then repeated with the tibia rotationally aligned to the ankle (transmalleolar axis).

    RESULTS: When rotationally aligned to the tibial plateau, the mean PTS, medial PTS, and lateral PTS were 11.2° ± 3.0 (range, 4.7°-17.7°), 11.3° ± 3.2 (range, 2.7°-19.7°), and 10.9° ± 3.7 (range, 3.5°-19.4°), respectively. When rotationally aligned to the ankle, the mean PTS, medial PTS, and lateral PTS were 11.4° ± 3.0 (range, 5.3°-19.3°), 13.9° ± 3.7 (range, 3.1°-24.4°), and 9.7° ± 3.6 (range, 0.8°-17.7°), respectively.

    CONCLUSION: The PTS in the normal Asian knee is on average 11° (mean) with a reference range of 5°-17° (mean ± 2 standard deviation). This has implications to surgery and implant design.

  9. Moghadamtousi SZ, Kamarudin MN, Chan CK, Goh BH, Kadir HA
    Am J Chin Med, 2014;42(1):23-35.
    PMID: 24467533 DOI: 10.1142/S0192415X14500025
    Loranthus parasiticus Merr (L. parasiticus) is a member of Loranthaceae family and is an important medicinal plant with a long history of Chinese traditional use. L. parasiticus, also known as Sang Ji Sheng (in Chinese), benalu teh (in Malay) and baso-kisei (in Japanese), is a semiparasitic plant, which is mostly distributed in the southern and southwestern regions of China. This review aims to provide a comprehensive overview of the ethnomedicinal use, phytochemistry and pharmacological activity of L. parasiticus and to highlight the needs for further investigation and greater global development of the plant's medicinal properties. To date, pharmacological studies have demonstrated significant biological activities, which support the traditional use of the plant as a neuroprotective, tranquilizing, anticancer, immunomodulatory, antiviral, diuretic and hypotensive agent. In addition, studies have identified antioxidative, antimutagenic, antiviral, antihepatotoxic and antinephrotoxic activity. The key bioactive constituents in L. parasiticus include coriaria lactone comprised of sesquiterpene lactones: coriamyrtin, tutin, corianin, and coriatin. In addition, two proanthocyanidins, namely, AC trimer and (+)-catechin, have been recently discovered as novel to L. parasiticus. L. parasiticus usefulness as a medicinal plant with current widespread traditional use warrants further research, clinical trials and product development to fully exploit its medicinal value.
  10. Ng WM, Chan CK, Takahashi N, Kawai N, Teh KK, Saravana R, et al.
    Singapore Med J, 2017 Feb;58(2):103-106.
    PMID: 26976222 DOI: 10.11622/smedj.2016061
    INTRODUCTION: Injuries to the medial structures of the elbow due to overhead throwing games are well documented. However, variations of medial epicondyles are not well described, especially in athletes with fused medial epicondyles. In this study, we evaluated variations in the medial epicondyle of baseball players who were aged 15-17 years and had fused epicondyles.

    METHODS: In this cross-sectional observational study, 155 skeletally mature baseball players with unilateral medial elbow pain and 310 elbow radiographs were reviewed by two independent reviewers. The medial epicondyles were categorised into three groups: normal, elongated or separated.

    RESULTS: Among the 155 patients, 65 (41.9%) had normal epicondyles, 41 (26.5%) had elongated epicondyles and 49 (31.6%) had separated epicondyles. The medial epicondyle was larger on the dominant arm for 125 (80.6%) patients; the mean surface area on the dominant arm was 222.50 ± 45.77 mm2, while that of the non-dominant arm was 189.14 ± 39.56 mm2(p < 0.01). Among the three categories of medial epicondyles, separated epicondyles had the largest surface area, followed by elongated and normal epicondyles.

    CONCLUSION: Medial epicondyles in adolescent throwing athletes can be categorised into three different groups according to their shape (normal, elongated and separated). We observed a correlation between the shape and the surface area of the medial epicondyle in adolescent throwing athletes, with separated medial epicondyles having the largest surface area. Further studies and follow-up are needed to determine the prognostic value and clinical significance of these morphological variations.

    Study done in Japan
  11. Lim KS, Ng CC, Chan CK, Foo WS, Low JS, Tan CT
    Seizure, 2017 Feb;45:24-27.
    PMID: 27912112 DOI: 10.1016/j.seizure.2016.11.011
    PURPOSE: Ethnic variation in epilepsy classification was reported in the Epilepsy Phenome/Genome Project. This study aimed to determine the ethnic variation in the prevalence of genetic (idiopathic) generalized epilepsy (GGE) and GGE with family history in a multi-ethnic Asian population in Malaysia.

    METHOD: In this cross-sectional study, 392 patients with a clinical diagnosis of GGE were recruited in the neurology outpatient clinic, University of Malaya Medical Centre (UMMC), from January 2011 till April 2016.

    RESULTS: In our epilepsy cohort (n=2100), 18.7% were diagnosed to have GGE. Of those, 28.6% >(N=112) had family history of epilepsy with a mean age of seizure onset of 16.5 years old, and 42.0% had myoclonic seizures (N=47). The lifetime prevalence of epilepsy among first-degree relative of those with GGE and positive family history was 15.0%. Analysis according to ethnicity showed that Malaysian Chinese had the lowest percentage of GGE among those with epilepsy (12.3%), as compared with Indian and Malay (25.3% and 21.3%, p<0.001). In addition, 32.1% of these Indian patients with GGE had positive family history, which is more than the Malay (26.4%) and Chinese (27.5%) ethnic groups. Consanguineous marriage was noted in 5 Indian families with positive family history (9.6%).

    CONCLUSION: There was ethnic variation in the prevalence of GGE, whereby the Malaysian Chinese had the lowest percentage of GGE as compared with Indian and Malay. A substantial proportion of GGE had positive family history among the three ethnics groups.

    Study site: neurology outpatient clinic, University of Malaya Medical Centre (UMMC)
  12. Mohd Din FH, Hoe VC, Chan CK, Muslan MA
    Qual Life Res, 2015 May;24(5):1275-80.
    PMID: 25373928 DOI: 10.1007/s11136-014-0850-1
    PURPOSE: The Pain Catastrophizing Scale (PCS) is designed to assess negative thoughts in response to pain. It is composed of three domains: helplessness, rumination, and magnification. We report on the translation, adaptation, and validation of scores on a Malay-speaking version of the PCS, the PCS-MY.

    METHOD: Guidelines for the process of cross-cultural adaptations of assessment measures were implemented. A sample of 303 young military recruits participated in the study. Factor structure, reliability, and validity of scores on the PCS-MY were examined. Convergent validity was investigated with the Positive and Negative Affect Scale, Short-form 12 version 2, and Ryff's Psychological Well-being Scale.

    RESULTS: Most participants were men, ranging in age from 19 to 26. The reliability of the PCS-MY scores was adequate (α = 0.90; mean inter-item correlation = 0.43). Confirmatory factor analysis showed that a modified version of the PCS-MY provided best fit estimates to the sample data. The PCS-MY total score was negatively correlated with mental well-being and positively correlated with negative affect (all ps < 0.001).

    CONCLUSION: The PCS-MY was demonstrated to have adequate reliability and validity estimates in the study sample.

  13. Mat S, Jaafar MH, Ng CT, Sockalingam S, Raja J, Kamaruzzaman SB, et al.
    PLoS One, 2019;14(11):e0225075.
    PMID: 31751378 DOI: 10.1371/journal.pone.0225075
    Knee pain is often underreported, underestimated and undertreated. This study was conducted to estimate the prevalence, burden and further identify socioeconomic factors influencing ethnic differences in knee pain and symptoms of OA among older adults aged 55 years and over in Greater Kuala Lumpur (the capital city of Malaysia). The sample for the Malaysian Elders Longitudinal Research (MELoR) was selected using stratified random sampling, by age and ethnicity from the electoral rolls of three parliamentary constituencies. Information on knee pain was available in 1226 participants, mean age (SD) 68.96 (1.57) years (409 Malay, 416 Chinese, 401 Indian). The crude and weighted prevalence of knee pain and self-reported knee OA symptoms were 33.3% and 30.8% respectively. There were significant ethnic differences in knee pain (crude prevalence: Malays 44.6%, Chinese 23.5% and Indians 31.9%, p<0.001). The presence of two or more non-communicable diseases (NCD) attenuated the increased risk of knee pain among the ethnic Indians compared to the ethnic Chinese. The prevalence of knee pain remained significantly higher among the ethnic Malays after adjustment for confounders. While the prevalence of knee pain in our older population appears similar to that reported in other published studies in Asia, the higher prevalence among the ethnic Malays has not previously been reported. Further research to determine potential genetic susceptibility to knee pain among the ethnic Malays is recommended.
  14. Zaghlul N, Goh SL, Razman R, Danaee M, Chan CK
    PLoS One, 2023;18(1):e0280361.
    PMID: 36649257 DOI: 10.1371/journal.pone.0280361
    The validity and reliability of the Lafayette stability platform are well-established for double leg testing. However, no evaluation of single leg (SL) stance on the platform was discovered yet. Therefore, this study aimed to investigate the reliability of conducting the SL stance on the Lafayette platform. Thirty-six healthy and active university students (age 23.2 ± 3.2 years; BMI 21.1 ± 3.1 kg/m2) were tested twice, one week apart (week 1; W1, week 2; W2). They stood on their dominant leg with eyes-open (EO) and eyes-closed (EC) in random order. Three successful trials of 20 seconds each were recorded. The duration during which the platform was maintained within 0° of tilt was referred to as time in balance (TIB). At all-time points, TIB was consistently longer in EO (EOW1: 17.02 ± 1.04s; EOW2: 17.32 ± 1.03s) compared to EC (ECW1: 11.55 ± 1.73s; ECW2: 13.08 ± 1.82s). A ±10 seconds difference was demonstrated in the Bland-Altman analysis in both EO and EC. Lower standard error of measurement (SEM) and coefficient of variation (CV) indicated consistent output. High intraclass correlation coefficient (ICC) values were seen between weeks (EO = 0.74; EC = 0.76) and within weeks (EOW1 = 0.79; EOW2 = 0.86; ECW1 = 0.71; ECW2 = 0.71). Although statistical measures (i.e., SEM, CV, and ICC) indicated good reliability of Lafayette for SL tasks, the wide agreement interval is yet to be clinically meaningful. Factors underlying the wide variation need to be identified before Lafayette is used for TIB assessment.
  15. Lau YS, Tan LK, Chan CK, Chee KH, Liew YM
    Phys Med Biol, 2021 Dec 31;66(24).
    PMID: 34911053 DOI: 10.1088/1361-6560/ac4348
    Percutaneous coronary intervention (PCI) with stent placement is a treatment effective for coronary artery diseases. Intravascular optical coherence tomography (OCT) with high resolution is used clinically to visualize stent deployment and restenosis, facilitating PCI operation and for complication inspection. Automated stent struts segmentation in OCT images is necessary as each pullback of OCT images could contain thousands of stent struts. In this paper, a deep learning framework is proposed and demonstrated for the automated segmentation of two major clinical stent types: metal stents and bioresorbable vascular scaffolds (BVS). U-Net, the current most prominent deep learning network in biomedical segmentation, was implemented for segmentation with cropped input. The architectures of MobileNetV2 and DenseNet121 were also adapted into U-Net for improvement in speed and accuracy. The results suggested that the proposed automated algorithm's segmentation performance approaches the level of independent human obsevers and is feasible for both types of stents despite their distinct appearance. U-Net with DenseNet121 encoder (U-Dense) performed best with Dice's coefficient of 0.86 for BVS segmentation, and precision/recall of 0.92/0.92 for metal stent segmentation under optimal crop window size of 256.
  16. Chan CK
    New Solut, 2002;12(2):109-19.
    PMID: 17208760
    On June 27, 2001, the World Health Organization conducted hearings in Geneva for a Special Report on Genomics & Health. Initially intended as a document to address the ethical, legal, and social implications of the gathering genomics resolution (ELSI), the terms of reference of the report were significantly modified to give primary emphasis to a scientific and technological assessment of the implications of genomics for human health. The Citizens' Health Initiative, one of two NGOs invited to make submissions at these consultations, suggested that no less important than the scientific and technical assessment was a perspective which gave due attention to the social context and political economy of scientific/technological development and its deployment. The article below touches upon neglected health priorities of poor countries, intellectual property rights and patents, risk management, insurance and discrimination, and predictive (prenatal) testing, reproductive choice, and eugenics.
  17. Mat S, Jaafar MH, Razack AHA, Lim J, Ong TA, Khong SY, et al.
    Neurourol Urodyn, 2023 Mar;42(3):641-649.
    PMID: 36728321 DOI: 10.1002/nau.25136
    INTRODUCTION: The common assumption that urinary incontinence occurs in osteoarthritis (OA) due to poor mobility is supported by limited evidence. The influence of gender in such associations is also yet to be elucidated.

    OBJECTIVE: This study, therefore, identified any potential associations between knee OA symptoms and urinary incontinence and further explore sex differences in the associations.

    DESIGN: Cross-sectional study.

    SETTING: University Hospital.

    PARTICIPANTS: This was a cross-sectional study from a longitudinal research study comprising 1221 community-dwelling older persons (57% women), mean age (SD) 68.95 (7.49) years.

    MAIN OUTCOME MEASURE(S): Presence of urinary incontinence: mixed, stress and urge symptoms. Physical performance and C-reactive protein levels were also assessed.

    RESULTS: Two hundred and seventy-seven (22.83%) individuals reported the presence of urinary incontinence: mixed (41.5%), stress (30%), and urge (28.5%) symptoms. In an unadjusted analysis, stratified by gender, the association between knee pain and urinary incontinence was only present in women with mixed symptoms. After further adjustment of demographics differences and body mass index, the association between knee pain with any urinary incontinence and mixed symptoms remained significant with the odds ratios (95% confidence interval): 1.48 (1.02-2.15) and 1.73 (1.06-2.83), respectively. This relationship was attenuated after further adjustment for waist circumference and impaired lower limb mobility.

    CONCLUSION: Our study refutes previous assumptions that urinary incontinence in individuals with OA is attributed to impaired mobility alone, but introduces the role of abdominal obesity in this relationship, particularly in women. Future studies should assess the temporal relationship between body fat distribution and OA with urinary incontinence.

  18. Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, et al.
    Neuron, 2020 Apr 22;106(2):237-245.e8.
    PMID: 32097630 DOI: 10.1016/j.neuron.2020.01.027
    Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities of cortical thickness. Pathogenic variants in over 20 genes are associated with LIS. The majority of posterior predominant LIS is caused by pathogenic variants in LIS1 (also known as PAFAH1B1), although a significant fraction remains without a known genetic etiology. We now implicate CEP85L as an important cause of posterior predominant LIS, identifying 13 individuals with rare, heterozygous CEP85L variants, including 2 families with autosomal dominant inheritance. We show that CEP85L is a centrosome protein localizing to the pericentriolar material, and knockdown of Cep85l causes a neuronal migration defect in mice. LIS1 also localizes to the centrosome, suggesting that this organelle is key to the mechanism of posterior predominant LIS.
  19. Chan CK, Low JS, Lim KS, Low SK, Tan CT, Ng CC
    Neurol Sci, 2020 Mar;41(3):591-598.
    PMID: 31720899 DOI: 10.1007/s10072-019-04122-9
    INTRODUCTION: Genetic (idiopathic) generalized epilepsy (GGE) is a common form of epilepsy characterized by unknown aetiology and a presence of genetic component in its predisposition.

    METHODS: To understand the genetic factor in a family with GGE, we performed whole exome sequencing (WES) on a trio of a juvenile myoclonic epilepsy/febrile seizure (JME/FS) proband with JME/FS mother and healthy father. Sanger sequencing was carried out for validation of WES results and variant detection in other family members.

    RESULTS: Predictably damaging variant found in affected proband and mother but absent in healthy father in SCN1A gene was found to be associated with generalized epilepsy and febrile seizure. The novel non-synonymous substitution (c.5753C>T, p.S1918F) in SCN1A was found in all family members with GGE, of which 4/8 were JME subtypes, and/or febrile seizure, while 3 healthy family member controls did not have the mutation. This mutation was also absent in 41 GGE patients and 414 healthy Malaysian Chinese controls.

    CONCLUSION: The mutation is likely to affect interaction between the sodium channel and calmodulin and subsequently interrupt calmodulin-dependent modulation of the channel.

  20. Moghadamtousi SZ, Goh BH, Chan CK, Shabab T, Kadir HA
    Molecules, 2013 Aug 30;18(9):10465-83.
    PMID: 23999722 DOI: 10.3390/molecules180910465
    Swietenia macrophylla King (Meliaceae) is an endangered and medicinally important plant indigenous to tropical and subtropical regions of the World. S. macrophylla has been widely used in folk medicine to treat various diseases. The review reveals that limonoids and its derivatives are the major constituents of S. macrophylla. There are several data in the literature indicating a great variety of pharmacological activities of S. macrophylla, which exhibits antimicrobial, anti-inflammatory, antioxidant effects, antimutagenic, anticancer, antitumor and antidiabetic activities. Various other activities like anti-nociceptive, hypolipidemic, antidiarrhoeal, anti-infective, antiviral, antimalarial, acaricidal, antifeedant and heavy metal phytoremediation activity have also been reported. In view of the immense medicinal importance of S. macrophylla, this review aimed at compiling all currently available information on its ethnomedicinal uses, phytochemistry and biological activities of S. macrophylla, showing its importance.
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