Displaying publications 21 - 40 of 247 in total

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  1. A Molecular Approach to Epilepsy Management: from Current Therapeutic Methods to Preconditioning Efforts
    Amini E, Rezaei M, Mohamed Ibrahim N, Golpich M, Ghasemi R, Mohamed Z, et al.
    Mol Neurobiol, 2015 Aug;52(1):492-513.
    PMID: 25195699 DOI: 10.1007/s12035-014-8876-5
    Epilepsy is the most common and chronic neurological disorder characterized by recurrent unprovoked seizures. The key aim in treating patients with epilepsy is the suppression of seizures. An understanding of focal changes that are involved in epileptogenesis may therefore provide novel approaches for optimal treatment of the seizure. Although the actual pathogenesis of epilepsy is still uncertain, recently growing lines of evidence declare that microglia and astrocyte activation, oxidative stress and reactive oxygen species (ROS) production, mitochondria dysfunction, and damage of blood-brain barrier (BBB) are involved in its pathogenesis. Impaired GABAergic function in the brain is probably the most accepted hypothesis regarding the pathogenesis of epilepsy. Clinical neuroimaging of patients and experimental modeling have demonstrated that seizures may induce neuronal apoptosis. Apoptosis signaling pathways are involved in the pathogenesis of several types of epilepsy such as temporal lobe epilepsy (TLE). The quality of life of patients is seriously affected by treatment-related problems and also by unpredictability of epileptic seizures. Moreover, the available antiepileptic drugs (AED) are not significantly effective to prevent epileptogenesis. Thus, novel therapies that are proficient to control seizure in people who are suffering from epilepsy are needed. The preconditioning method promises to serve as an alternative therapeutic approach because this strategy has demonstrated the capability to curtail epileptogenesis. For this reason, understanding of molecular mechanisms underlying brain tolerance induced by preconditioning is crucial to delineate new neuroprotective ways against seizure damage and epileptogenesis. In this review, we summarize the work to date on the pathogenesis of epilepsy and discuss recent therapeutic strategies in the treatment of epilepsy. We will highlight that novel therapy targeting such as preconditioning process holds great promise. In addition, we will also highlight the role of gene reprogramming and mitochondrial biogenesis in the preconditioning-mediated neuroprotective events.
  2. Fulltext Brain Lipopolysaccharide Preconditioning-Induced Gene Reprogramming Mediates a Tolerance State in Electroconvulsive Shock Model of Epilepsy
    Amini E, Golpich M, Farjam AS, Kamalidehghan B, Mohamed Z, Ibrahim NM, et al.
    Front Pharmacol, 2018;9:416.
    PMID: 29765321 DOI: 10.3389/fphar.2018.00416
    There is increasing evidence pointing toward the role of inflammatory processes in epileptic seizures, and reciprocally, prolonged seizures induce more inflammation in the brain. In this regard, effective strategies to control epilepsy resulting from neuroinflammation could be targeted. Based on the available data, preconditioning (PC) with low dose lipopolysaccharide (LPS) through the regulation of the TLR4 signaling pathway provides neuroprotection against subsequent challenge with injury in the brain. To test this, we examined the effects of a single and chronic brain LPS PC, which is expected to lead to reduction of inflammation against epileptic seizures induced by electroconvulsive shock (ECS). A total of 60 male Sprague Dawley rats were randomly assigned to five groups: control, vehicle (single and chronic), and LPS PC (single and chronic). We first recorded the data regarding the behavioral and histological changes. We further investigated the alterations of gene and protein expression of important mediators in relation to TLR4 and inflammatory signaling pathways. Interestingly, significant increased presence of NFκB inhibitors [Src homology 2-containing inositol phosphatase-1 (SHIP1) and Toll interacting protein (TOLLIP)] was observed in LPS-preconditioned animals. This result was also associated with over-expression of IRF3 activity and anti-inflammatory markers, along with down-regulation of pro-inflammatory mediators. Summarizing, the analysis revealed that PC with LPS prior to seizure induction may have a neuroprotective effect possibly by reprogramming the signaling response to injury.
  3. Fulltext Genetic associations of the INSIG2 rs7566605 polymorphism with obesity-related metabolic traits in Malaysian Malays
    Apalasamy YD, Moy FM, Rampal S, Bulgiba A, Mohamed Z
    Genet. Mol. Res., 2014;13(3):4904-10.
    PMID: 25062423 DOI: 10.4238/2014.July.4.4
    A genome-wide association study showed that the tagging single nucleotide polymorphism (SNP) rs7566605 in the insulin-induced gene 2 (INSIG2) was associated with obesity. Attempts to replicate this result in different populations have produced inconsistent findings. We aimed to study the association between the rs7566605 SNP with obesity and other metabolic parameters in Malaysian Malays. Anthropometric and obesity-related metabolic parameters and DNA samples were collected. We genotyped the rs7566605 polymorphism in 672 subjects using real-time polymerase chain reaction. No significant associations were found between the rs7566605 tagging SNP of INSIG2 with obesity or other metabolic parameters in the Malaysian Malay population. The INSIG2 rs7566605 SNP may not play a role in the development of obesity-related metabolic traits in Malaysian Malays.
  4. Association of ADIPOQ gene with obesity and adiponectin levels in Malaysian Malays
    Apalasamy YD, Rampal S, Salim A, Moy FM, Bulgiba A, Mohamed Z
    Mol Biol Rep, 2014 May;41(5):2917-21.
    PMID: 24449366 DOI: 10.1007/s11033-014-3147-0
    Studies have shown that single-nucleotide polymorphisms (SNPs) on the ADIPOQ gene have been linked with obesity and with adiponectin levels in various populations. Here, we aimed to investigate the association of ADIPOQ rs17366568 and rs3774261 SNPs with obesity and with adiponectin levels in Malaysian Malays. Obesity parameters and adiponectin levels were measured in 574 subjects. Genotyping was performed using real-time polymerase chain reaction and Sequenom MassARRAY. A significant genotypic association was observed between ADIPOQ rs17366568 and obesity. The frequencies of AG and AA genotypes were significantly higher in the obese group (11%) than in the non-obese group (5%) (P=0.024). The odds of A alleles occurring among the obese group were twice those among the non-obese group (odds ratio 2.15; 95% confidence interval 1.13-4.09). However, no significant association was found between allelic frequencies of ADIPOQ rs17366568 and obesity after Bonferroni correction (P>0.025) or between ADIPOQ rs3774261 and obesity both at allelic and genotypic levels. ADIPOQ SNPs were not significantly associated with log-adiponectin levels. GA, GG, and AG haplotypes of the ADIPOQ gene were not associated with obesity. We confirmed the previously reported association of ADIPOQ rs17366568 with the risk of obesity. ADIPOQ SNPs are not important modulators of adiponectin levels in this population.
  5. Genetic association of SNPs in the FTO gene and predisposition to obesity in Malaysian Malays
    Apalasamy YD, Ming MF, Rampal S, Bulgiba A, Mohamed Z
    Braz. J. Med. Biol. Res., 2012 Dec;45(12):1119-26.
    PMID: 22911346
    The common variants in the fat mass- and obesity-associated (FTO) gene have been previously found to be associated with obesity in various adult populations. The objective of the present study was to investigate whether the single nucleotide polymorphisms (SNPs) and linkage disequilibrium (LD) blocks in various regions of the FTO gene are associated with predisposition to obesity in Malaysian Malays. Thirty-one FTO SNPs were genotyped in 587 (158 obese and 429 non-obese) Malaysian Malay subjects. Obesity traits and lipid profiles were measured and single-marker association testing, LD testing, and haplotype association analysis were performed. LD analysis of the FTO SNPs revealed the presence of 57 regions with complete LD (D' = 1.0). In addition, we detected the association of rs17817288 with low-density lipoprotein cholesterol. The FTO gene may therefore be involved in lipid metabolism in Malaysian Malays. Two haplotype blocks were present in this region of the FTO gene, but no particular haplotype was found to be significantly associated with an increased risk of obesity in Malaysian Malays.
  6. Gender-dependent association of a β(2)-adrenergic gene variant with obesity parameters in Malaysian Malays
    Apalasamy YD, Ming MF, Rampal S, Bulgiba A, Mohamed Z
    Asia Pac J Public Health, 2015 Mar;27(2):NP154-65.
    PMID: 22199155 DOI: 10.1177/1010539511430250
    Recent findings have shown that the rs1042714 (Gln27Glu) single-nucleotide polymorphism (SNP) on the β2-adrenoceptor gene may predispose to obesity. The findings from other studies carried on different populations, however, have been inconsistent. The authors investigated the association between the rs1042714 SNP with obesity-related parameters. DNA of 672 Malaysian Malays was analyzed using real-time polymerase chain reaction. Univariate and multivariate linear regression analyses revealed significant associations between rs1042714 and diastolic blood pressure in the pooled Malaysian Malay subjects under additive and recessive models. After gender stratification, however, a significant association was found between the rs1042714 and triglyceride and the rs1042714 and log-transformed high-density lipoprotein cholesterol levels in Malaysian Malay men. No significant association was found between the SNP and log-transformed body mass index. This polymorphism may have an important role in the development of obesity-related traits in Malaysian Malays. Gender is an effect modifier for the effect of the rs1042714 polymorphism on obesity-related traits in Malaysian Malays.
  7. Obesity and genomics: role of technology in unraveling the complex genetic architecture of obesity
    Apalasamy YD, Mohamed Z
    Hum Genet, 2015 Apr;134(4):361-74.
    PMID: 25687726 DOI: 10.1007/s00439-015-1533-x
    Obesity is a complex and multifactorial disease that occurs as a result of the interaction between "obesogenic" environmental factors and genetic components. Although the genetic component of obesity is clear from the heritability studies, the genetic basis remains largely elusive. Successes have been achieved in identifying the causal genes for monogenic obesity using animal models and linkage studies, but these approaches are not fruitful for polygenic obesity. The developments of genome-wide association approach have brought breakthrough discovery of genetic variants for polygenic obesity where tens of new susceptibility loci were identified. However, the common SNPs only accounted for a proportion of heritability. The arrival of NGS technologies and completion of 1000 Genomes Project have brought other new methods to dissect the genetic architecture of obesity, for example, the use of exome genotyping arrays and deep sequencing of candidate loci identified from GWAS to study rare variants. In this review, we summarize and discuss the developments of these genetic approaches in human obesity.
  8. Polymorphisms of the resistin gene and their association with obesity and resistin levels in Malaysian Malays
    Apalasamy YD, Rampal S, Salim A, Moy FM, Su TT, Majid HA, et al.
    Biochem Genet, 2015 Jun;53(4-6):120-31.
    PMID: 25991560 DOI: 10.1007/s10528-015-9678-9
    Single nucleotide polymorphisms (SNP) in the resistin gene (RETN) are linked to obesity and resistin levels in various populations. However, results have been inconsistent. This study aimed to investigate association between polymorphisms in the resistin gene with obesity in a homogenous Malaysian Malay population. This study is also aimed to determine association between resistin levels with certain SNPs and haplotypes of RETN. A total of 631 Malaysian Malay subjects were included in this study and genotyping was carried out using Sequenom MassARRAY. There was no significant difference found in both allelic and genotype frequencies of each of the RETN SNPs between the obese and non-obese groups after Bonferroni correction. RETN rs34861192 and rs3219175 SNPs were significantly associated with log-resistin levels. The GG genotype carriers are found to have higher levels of log-resistin compared to A allele carriers. The RETN haplotypes (CAG, CGA and GA) were significantly associated with resistin levels. However, the haplotypes of the RETN gene were not associated with obesity. Resistin levels were not correlated to metabolic parameters such as body weight, waist circumference, body mass index, and lipid parameters. RETN SNPs and haplotypes are of apparent functional importance in the regulation of resistin levels but are not correlated with obesity and related markers.
  9. Association of melanocortin-4 receptor gene polymorphisms with obesity-related parameters in Malaysian Malays
    Apalasamy YD, Ming MF, Rampal S, Bulgiba A, Mohamed Z
    Ann Hum Biol, 2013 Jan;40(1):102-6.
    PMID: 22989167 DOI: 10.3109/03014460.2012.720709
    Melanocortin-4 receptor (MC4R) is an important regulator of body weight and energy intake. Genetic polymorphisms of the MC4R gene have been found to be linked to obesity in many recent studies across the globe.
  10. Study of viridans streptococci and Staphylococcus species in cleft lip and palate patients before and after surgery
    Arief EM, Mohamed Z, Idris FM
    Cleft Palate Craniofac J, 2005 May;42(3):277-9.
    PMID: 15865462
    OBJECTIVE: To determine the effect of surgery on types and colony count of Streptococcus and Staphylococcus species in cleft lip and palate (CLP) patients.

    DESIGN: Saliva samples were collected after the morning meal by placing a sterile cotton swab in the vestibule of the oral cavity from cleft lip and palate patients immediately preoperative and 12 weeks postoperative. Normal children were examined as a control group. Samples were cultured; Staphylococcus and Streptococcus isolates were identified and quantified.

    PATIENTS: Fifteen cleft lip and palate patients and 22 normal children, aged 3 to 39 months were examined.

    RESULTS: Streptococcus mitis biovar 1, Streptococcus salivarius and Streptococcus oralis of the viridans group of streptococci were the most commonly found in normal children, as well as in cleft lip and palate children. In the cleft lip and palate group, mean streptococcal count was 32.41 (29.80) and 46.46 (42.80) in the pre- and postoperative periods, respectively; in the normal group, the count was 20.93 (27.93) and 49.92 (34.72) at 0 week and 12 weeks, respectively. Staphylococcus aureus was the most common Staphylococcus species found in CLP patients, representing 47.4% postoperatively. In the cleft lip and palate children, mean staphylococcal count was 5.34 (8.13) and 0.56 (0.92) in the pre- and postoperative periods, respectively; in normal children, the count was 0.82 (1.98) and 0.60 (2.55) at 0 and 12 weeks, respectively. The differences were statistically significant only for the staphylococcal count between pre- and postoperative periods in children with cleft lip and palate as tested by analysis of variance (p < .05).

    CONCLUSIONS: Cleft lip and palate patients had more colonization by S. aureus compared with normal children, and the colony count decreased significantly following surgical repair of the cleft lip and palate.

  11. Fulltext Evaluation of two short tandem repeat multiplex systems for post-haematopoietic stem cell transplantation chimerism analysis
    Ariffin H, Daud SS, Mohamed Z, Ibrahim K, Lee TF, Chong LA
    Singapore Med J, 2007 Apr;48(4):333-7.
    PMID: 17384881
    The follow-up of chimerism status after allogeneic haematopoietic stem cell transplantation (HSCT) is essential to predict successful engraftment to assess the development of graft-versus-host disease, graft rejection and disease relapse. Analysis of short tandem repeats (STR) via polymerase chain reaction is frequently used for chimerism determination. However, most commercially-available kits have been designed for forensic purposes and may not be optimal for chimerism analysis. The present study aims to identify suitable STR markers for patient-donor pairs of predominantly Malay and Chinese ethnicity using two commercially-available forensic kits.
  12. Comparison of antimicrobial resistance in neonatal and adult intensive care units in a tertiary teaching hospital
    Ariffin N, Hasan H, Ramli N, Ibrahim NR, Taib F, Rahman AA, et al.
    Am J Infect Control, 2012 Aug;40(6):572-5.
    PMID: 22854380 DOI: 10.1016/j.ajic.2012.02.032
    Intrahospital variations in antimicrobial profiles may be related to many factors. This study compared causative agents of nosocomial bloodstream infections between a neonatal intensive care unit (NICU) that adopted a ward-tailored antibiotic policy and adult intensive care units (ICUs). Data on organisms from blood cultures obtained from the respective wards between 2005 and 2009 were analyzed. Compared with the adult ICUs, the NICU had a higher frequency of Enterobacteriacae and lower frequencies of typical hospital-acquired pathogens (eg, Klebsiella pneumoniae, 17.4% vs 10.0% [P < .001]; Acinetobacter baumannii, 3.9% vs 11.6% [P < .001]). Antibiotic resistance of gram-negative organisms was also significantly lower in the NICU, including resistance to imipenem (5.7% vs 32.1%; P < .001), amikacin (8.8% vs 30.3%), and ceftriaxone (36.1% vs 74.6%; P < .001). This could possibly be due to the ward-tailored antibiotic policy adopted by the NICU but not by the other ICUs.
  13. Unrecognised infection in a cystic fibrosis patient
    Asiah K, Hanifah YA, Norzila MZ, Hasniah L, Rusanida A
    J Paediatr Child Health, 2006 Apr;42(4):217-8.
    PMID: 16630326
    We report a 17-year-old Malay boy with cystic fibrosis who over a 14-month period experienced worsening respiratory symptoms and deteriorating lung function. Burkholderia pseudomallei was eventually isolated from his sputum. He improved clinically following treatment for meliodosis and his lung function returned to normal.
  14. Fulltext Validating an Instrument for Measuring Newly Graduated Nurses' Adaptation
    Baharum H, Ismail A, Awang Z, McKenna L, Ibrahim R, Mohamed Z, et al.
    Int J Environ Res Public Health, 2023 Feb 06;20(4).
    PMID: 36833559 DOI: 10.3390/ijerph20042860
    A long-established approach, Confirmatory Factor Analysis (CFA) is used to validate measurement models of latent constructs. Employing CFA can be useful for assessing the validity and reliability of such models. The study adapted previous instruments and modified them to suit the current setting. The new measurement model is termed NENA-q. Exploratory factor analysis (EFA) revealed the instruments of the NENA-q model formed a construct of the second order with four dimensions, namely organizational contribution (OC), academic institution contribution (AIC), personality traits (PT), and newly employed nurses' adaptation (NENA). Researchers administered the questionnaires to a sample of 496 newly employed nurses working in hospitals under the Ministry of Health (MOH) for the confirmation of the extracted dimensions. The study performed a two-step CFA procedure to validate NENA-q since the model involves higher-order constructs. The first step was individual CFA, while the second step was pooled CFA. The validation procedure through confirmatory factor analysis (CFA) found the model achieved the threshold of construct validity through fitness index assessment. The model also achieved convergent validity when all average variance extracted (AVE) exceeded the threshold value of greater than 0.5. The assessment of the composite reliability (CR) value indicates all CR values exceeded the threshold value of 0.6, which indicates the construct achieved composite reliability. Overall, the NENA-q model consisting of the OC construct, AIC construct, PT construct, and NENA construct for CFA has met the fitness indexes and passed the measurements of the AVE, CR, and normality test. Once the measurement models have been validated through CFA procedure, the researcher can assemble these constructs into structural model and estimate the required parameter through structural equation modelling (SEM) procedure.
  15. Success factors in adaptation of newly graduated nurses: a scoping review
    Baharum H, Ismail A, McKenna L, Mohamed Z, Ibrahim R, Hassan NH
    BMC Nurs, 2023 Apr 18;22(1):125.
    PMID: 37069647 DOI: 10.1186/s12912-023-01300-1
    BACKGROUND: Difficulties in adapting to the workplace can affect newly graduated nurses' transition. Such nurses must adapt quickly, as it can affect their future career prospects. Therefore, this review aimed to identify the success factors that promote newly graduated nurses' effective transition and adaptation.

    METHODS: The Joanna Briggs Institute scoping reviews methodology was used. Data were extracted from MEDLINE, Scopus, EBSCOhost, and Web of Science publications published between 2011 and 2020. A total of 23 articles were included in this review, which comprised qualitative, quantitative, and mixed methods primary research studies focusing on the contributing factors that aided newly graduated nurses' adaptation to the work environment during their transition period. Key emerging themes were identified with thematic analysis.

    RESULTS: Three main themes were identified: (1) organisational contribution (social development, organisational culture, work characteristics, work readiness, work commitment, professional role), (2) personality traits (self-embodiment, personality masking, being proactive and confident), and (3) academic institutions (pre-entry knowledge and role of nursing faculty). Newly graduated nurses' adaptation should begin during nursing education, be supported by the workplace organisation, and driven by the nurse's personality. We determined that that the role of nursing education in aiding the provision of the required knowledge and actual clinical experiences to students profoundly affected developing nurses' self-confidence levels in delivering nursing care effectively. Additionally, a warm environment supported nurses emotionally and physically.

    CONCLUSIONS: While organisations and educational institutions have undertaken numerous efforts to ensure that newly graduated nurses are adequately supported, the nurse's personality and values are also equally important to ease adaptation during the transition process. Academic and workplace programs designed for newly graduated nurses should apply and emphasise this knowledge to develop and strengthen their personalities and values, especially to increase confidence and promote proactive values that facilitate newly graduated nurses' rapid and effective adaptation to their new employment.

  16. Non-polyphenolic compounds of a specific kind of dried grape (Maviz) inhibit memory impairments induced by beta-amyloid peptide
    Bakhtiyari E, Ahmadian-Attari MM, Salehi P, Khallaghi B, Dargahi L, Mohamed Z, et al.
    Nutr Neurosci, 2017 Oct;20(8):469-477.
    PMID: 27219682 DOI: 10.1080/1028415X.2016.1183986
    OBJECTIVES: Although grape has been recently the topic of many investigations, Maviz (a kind of dried one) has remained neglected. The aim of this study was to assess anti-Alzheimer activity of Maviz.

    METHODS: To reach this goal, total phenolic content (TPC) of ethanolic (Eth) and aqueous (Aq) extracts were determined and radical scavenging activity was assayed by 2,2-diphenyl-1-picrylhydrazyl. Chemical compositions of each extract were also determined via GC-Mass. Behavioral changes were studied via passive avoidance and Morris water maze in Aβ-induced model of Alzheimer's disease. Catalase (CAT) and superoxide dismutase (SOD) determination were also done on rats' hippocampus.

    RESULTS: The results showed that seed Eth extract has a high level of TPC and radical scavenging activity. However, this extract had surprisingly no effect on memory and CAT and SOD activities. In contrast, fruit Aq and Eth extracts (containing furfurals as major compounds) inhibited memory impairment (P 

  17. Burden of bacterial meningitis: a retrospective review on laboratory parameters and factors associated with death in meningitis, kelantan malaysia
    Basri R, Zueter AR, Mohamed Z, Alam MK, Norsa'adah B, Hasan SA, et al.
    Nagoya J Med Sci, 2015 Feb;77(1-2):59-68.
    PMID: 25797971
    To describe the clinical characteristics and the risk factors associated with mortality in patients with meningitis. This is a retrospective review of patients diagnosed to have meningitis with positive culture of the cerebrospinal fluid (CSF) specimen. All cases aged 19 > years who were admitted to Hospital USM between January 2004 and December 2011 were included in the study. The CSF results database were obtained from the Department of Medical Microbiology and Parasitology, Hospital USM, Kelantan. A checklist was used to record the clinical characteristics. A total of 125 cases met the inclusion criteria. The age of patients ranged between newborn and 19 years old (Mean±SD, 74.5±80.6 months). The majority of them were males (65.6%). Fever was the most common presentation (73.6%) followed by poor oral intake (48.0%), seizure (36.0%) and headache (24.8%). The mortality rate was 31.2%. Coagulase negative staphylococcus was the most frequent pathogens isolated (21.6%), followed by Acinetobacter spp. (17.6%), Staphylococcus aureus (13.6%), Streptococcus spp. (11.2%) and Klebsiella pneumoniae (6.4%). There were significant association of in-hospital death with age (p=0.020) and conscious level (p=0.001). Infectious meningitis is a big health concern, especially among children. We found that coagulase negative staphylococcus, Acinetobacter species, S. aureus, Streptococcus spp and K. pneumoniae were prevalent in our hospital. These microorganisms were hospital associated pathogens. The 31% mortality linked to hospital acquired meningitis specifies the need for focused physician attention especially among younger aged patients.
  18. Fulltext Detection of selected intestinal helminths and protozoa at Hospital Universiti Sains Malaysia using multiplex real-time PCR
    Basuni M, Mohamed Z, Ahmad M, Zakaria NZ, Noordin R
    Trop Biomed, 2012 Sep;29(3):434-42.
    PMID: 23018507
    Intestinal parasites are the causative agents of a number of important human infections in developing countries. The objective of this study was to determine the prevalence of selected helminths and protozoan infections among patients admitted with gastrointestinal disorders at Hospital Universiti Sains Malaysia, Kelantan, Malaysia using multiplex real-time PCR. In addition microscopic examination was also performed following direct smear, zinc sulphate concentration and Kato-Katz thick smear techniques; and the presence of protozoan parasites was confirmed using trichrome and acid-fast stains. Of the 225 faecal samples analysed, 26.2% were positive for intestinal parasites by the multiplex real-time PCR, while 5.3% were positive by microscopy. As compared to microscopy, the multiplex real-time PCR detected 5.8 and 4.5 times more positives for the selected helminth and protozoan infections respectively. Among the selected helminths detected in this study, hookworm was the most prevalent by real-time PCR, while Ascaris lumbricoides was detected the most by microscopy. Meanwhile, among the selected protozoa detected in this study, Entamoeba histolytica was the most prevalent by real-time PCR, however microscopy detected equal number of cases with E. histolytica and Giardia lamblia. This study showed that real-time PCR can be used to obtain a more accurate prevalence data on intestinal helminths and protozoa.
  19. Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy
    Baum L, Haerian BS, Ng HK, Wong VC, Ng PW, Lui CH, et al.
    Hum Genet, 2014 May;133(5):651-9.
    PMID: 24337656 DOI: 10.1007/s00439-013-1405-1
    High-frequency action potentials are mediated by voltage-gated sodium channels, composed of one large α subunit and two small β subunits, encoded mainly by SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B genes in the brain. These play a key role in epilepsy, with the most commonly mutated gene in epilepsy being SCN1A. We examined whether polymorphisms in the above genes affect epilepsy risk in 1,529 epilepsy patients and 1,935 controls from four ethnicities or locations: Malay, Indian, and Chinese, all from Malaysia, and Chinese from Hong Kong. Of patients, 19 % were idiopathic, 42 % symptomatic, and 40 % cryptogenic. We genotyped 43 polymorphisms: 27 in Hong Kong, 28 in Malaysia, and 12 in both locations. The strongest association with epilepsy was rs3812718, or SCN1A IVS5N+5G>A: odds ratio (OR) = 0.85 for allele G (p = 0.0009) and 0.73 for genotype GG versus AA (p = 0.003). The OR was between 0.76 and 0.87 for all ethnicities. Meta-analysis confirmed the association (OR = 0.81 and p = 0.002 for G, and OR = 0.67 and p = 0.007 for GG versus AA), which appeared particularly strong for Indians and for febrile seizures. Allele G affects splicing and speeds recovery from inactivation. Since SCN1A is preferentially expressed in inhibitory neurons, G may decrease epilepsy risk. SCN1A rs10188577 displayed OR = 1.20 for allele C (p = 0.003); SCN2A rs12467383 had OR = 1.16 for allele A (p = 0.01), and displayed linkage disequilibrium with rs2082366 (r (2) = 0.67), whose genotypes tended toward association with SCN2A brain expression (p = 0.10). SCN1A rs2298771 was associated in Indians (OR = 0.56, p = 0.005) and SCN2B rs602594 with idiopathic epilepsy (OR = 0.62, p = 0.002). Therefore, sodium channel polymorphisms are associated with epilepsy.
  20. Fulltext Plasmodium falciparum isolate with histidine-rich protein 2 gene deletion from Nyala City, Western Sudan
    Boush MA, Djibrine MA, Mussa A, Talib M, Maki A, Mohammed A, et al.
    Sci Rep, 2020 07 30;10(1):12822.
    PMID: 32733079 DOI: 10.1038/s41598-020-69756-8
    In remote areas of malaria-endemic countries, rapid diagnostic tests (RDTs) have dramatically improved parasitological confirmation of suspected malaria cases, especially when skilled microscopists are not available. This study was designed to determine the frequency of Plasmodium falciparum isolates with histidine-rich protein 2 (pfhrp2) gene deletion as one of the possible factors contributing to the failure of PfHRP2-based RDTs in detecting malaria. A total of 300 blood samples were collected from several health centres in Nyala City, Western Sudan. The performance of PfHRP2-based RDTs in relation to microscopy was examined and the PCR-confirmed samples were investigated for the presence of pfhrp2 gene. A total of 113 out of 300 patients were P. falciparum positive by microscopy. Among them, 93.81% (106 out of 113) were positives by the PfHRP2 RDTs. Seven isolates were identified as false negative on the basis of the RDTs results. Only one isolate (0.9%; 1/113) potentially has pfhrp2 gene deletion. The sensitivity and specificity of PfHRP2-based RDTs were 93.81% and 100%, respectively. The results provide insights into the pfhrp2 gene deletion amongst P. falciparum population from Sudan. However, further studies with a large and systematic collection from different geographical settings across the country are needed.
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