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  1. Mageswaran N, Ismail NAS
    JMIR Med Educ, 2022 Feb 03;8(1):e31392.
    PMID: 35084354 DOI: 10.2196/31392
    In this viewpoint, we share and reflect on the experiences of final-year students preparing for a high-stakes examination at the Faculty of Medicine, Universiti Kebangsaan Malaysia during the COVID-19 pandemic. We highlight the new challenges faced during web-based remote learning and major differences in the clinical learning environment at our teaching hospital, which was one of the designated COVID-19 centers in Malaysia. We also document how a face-to-face professional examination was conducted for final-year medical students at our institution despite in times of a global health crisis. The lessons learned throughout this process address the importance of resilience and adaptability in unprecedented times. Further, we recommend appropriate measures that could be applied by medical schools across the world to improve the delivery of quality medical education during a crisis in the years to come.
  2. Ali A, Hamzaid NH, Ismail NAS
    Life (Basel), 2021 Nov 22;11(11).
    PMID: 34833150 DOI: 10.3390/life11111275
    Food allergy in children has been a common issue due to the challenges of prescribing personalized nutrition with a lack of nutriepigenomics data. This has indeed further influenced clinical practice for appropriate management. While allergen avoidance is still the main principle in food allergy management, we require more information to advance the science behind nutrition, genes, and the immune system. Many researchers have highlighted the importance of personalized nutrition but there is a lack of data on how the decision is made. Thus, this review highlights the relationship among these key players in identifying the solution to the clinical management of food allergy with current nutriepigenomics data. The discussion integrates various inputs, including clinical assessments, biomarkers, and epigenetic information pertaining to food allergy, to curate a holistic and personalized approach to food allergy management in particular.
  3. Radzi NFM, Ismail NAS, Alias E
    Curr Drug Targets, 2018;19(9):1095-1107.
    PMID: 29412105 DOI: 10.2174/1389450119666180207092539
    BACKGROUND: There are accumulating studies reporting that vitamin E in general exhibits bone protective effects. This systematic review, however discusses the effects of a group of vitamin E isomers, tocotrienols in preventing bone loss through osteoclast differentiation and activity suppression.

    OBJECTIVE: This review is aimed to discuss the literature reporting the effects of tocotrienols on osteoclasts, the cells specialized for resorbing bone.

    RESULTS: Out of the total 22 studies from the literature search, only 11 of them were identified as relevant, which comprised of eight animal studies, two in vitro studies and only one combination of both. The in vivo studies indicated that tocotrienols improve the bone health and reduce bone loss via inhibition of osteoclast formation and resorption activity, which could be through regulation of RANKL and OPG expression as seen from their levels in the sera. This is well supported by data from the in vitro studies demonstrating the suppression of osteoclast formation and resorption activity following treatment with tocotrienol isomers.

    CONCLUSION: Thus, tocotrienols are suggested to be potential antioxidants for prevention and treatment of bone-related diseases characterized by increased bone loss.

  4. Tabassum A, Ali A, Zahedi FD, Ismail NAS
    Biomedicines, 2023 May 14;11(5).
    PMID: 37239112 DOI: 10.3390/biomedicines11051441
    Vitamin D plays a role in regulating the immune system and can be linked to the alteration of the gut microbiome, which leads to several immunological diseases. This systematic review aims to explore the relationship between Vitamin D and children's gut microbiome, as well as its impact towards the immune system. We have systematically collated relevant studies from different databases concerning changes in the gut microbiome of children from infants to 18 years old associated with Vitamin D and the immunological pathways. The studies utilized 16S rRNA sequencing analysis of fecal matter with or without Vitamin D supplementation and Vitamin D levels. Ten studies were selected for the review, among which eight studies showed significant alterations in the gut microbiome related to Vitamin D supplementation or Vitamin D levels. The taxa of the phylum Actinobacteria, Bacteroidetes, Firmicutes, and Proteobacteria are the most altered in these studies. The alteration of the taxa alters the Th1 and Th2 pathways and changes the immune response. We will discuss how Vitamin D may contribute to the activation of immune pathways via its effects on intestinal barrier function, microbiome composition, and/or direct effects on immune responses. In conclusion, the studies examined in this review have provided evidence that Vitamin D levels may have an impact on the composition of children's gut microbiomes.
  5. Ismail NAS, Ramli NS, Hamzaid NH, Hassan NI
    Nutrients, 2020 Aug 20;12(9).
    PMID: 32825466 DOI: 10.3390/nu12092530
    Autism spectrum disorder (ASD) is a complex neurodevelopmental disability that is frequently associated with food refusal, limited food repertoire and high-frequency single food intake mainly among children with ASD. Provision of nutrition can be very challenging due to the fact of these behavioural problems, either for the parents or special educators. Healthy nutrition is associated with providing and consuming nutritious food with results being in a good state of health. Semi-structured focus group discussions (FGDs) were conducted among 20 participants at a National Autism Centre to explore their understanding towards healthy nutrition. They were parents and special educators who were actively involved with children with ASD. A series of discussions were transcribed verbatim, and four researchers examined each transcript. Inductive analysis linking codes into main thematic categories was conducted using the constant comparison approach across the full data set. The outcome suggested that participants had limited knowledge relating to the proper dietary and nutritional needs of the children. The key messages from the discussion provide a foundation on the development of a nutrition education module which involves primary caretakers of children with ASD.
  6. Gill S, Adenan AM, Ali A, Ismail NAS
    PMID: 35055469 DOI: 10.3390/ijerph19020642
    The aim of this review is to highlight the spectrum on which human behavior has been affected by blanket restriction measures and on a wider scale, the COVID-19 pandemic. Some of the human behaviors that have been impacted by the COVID-19 lockdown are dietary behavior and nutrition, food options and food delivery usage, physical activity and sedentary behaviors. This is important in planning effective public health strategies with minimal detriment to all subsets of society as well as improving the distribution of government aid to populations that are more severely affected. Our main purpose is to present the literature from a rapidly growing pool of scientific research to hopefully enable a better and more comprehensive understanding of the effects of this pandemic and the lessons learnt from the accompanying restrictions, as well as policy recommendations that can be made in national pandemic responses in the future.
  7. Ismail NAS, Mageswaran N, Bujang SM, Awang Besar MN
    Front Med (Lausanne), 2024;11:1375982.
    PMID: 38698786 DOI: 10.3389/fmed.2024.1375982
    BACKGROUND: Effective doctor-patient relationships hinge on robust communication skills, with non-verbal communication techniques (NVC) often overlooked, particularly in online synchronous interactions. This study delves into the exploration of NVC types during online feedback sessions for communication skill activities in a medical education module.

    METHODS: A cohort of 100 first-year medical students and 10 lecturers at the Faculty of Medicine, Universiti Kebangsaan Malaysia (UKM), engaged in communication skills activities via Microsoft Teams. Sessions were recorded, and lecturer NVC, encompassing body position, facial expressions, voice intonation, body movements, eye contact, and paralinguistics, were meticulously observed. Following these sessions, students provided reflective writings highlighting their perceptions of the feedback, specifically focusing on observed NVC.

    RESULTS: The study identified consistent non-verbal communication patterns during feedback sessions. Lecturers predominantly leaned forward and toward the camera, maintained direct eye contact, and exhibited dynamic voice intonation. They frequently engaged in tactile gestures and paused to formulate thoughts, often accompanied by filler sounds like "um" and "okay." This consistency suggests proficient use of NVC in providing synchronous online feedback. Less observed NVC included body touching and certain paralinguistic cues like long sighs. Initial student apprehension, rooted in feelings of poor performance during activities, transformed positively upon observing the lecturer's facial expressions and cheerful intonation. This transformation fostered an open reception of feedback, motivating students to address communication skill deficiencies. Additionally, students expressed a preference for comfortable learning environments to alleviate uncertainties during feedback reception. Potential contrivances in non-verbal communication (NVC) due to lecturer awareness of being recorded, a small sample size of 10 lecturers limiting generalizability, a focus solely on preclinical lecturers, and the need for future research to address these constraints and explore diverse educational contexts.

    CONCLUSION: Medical schools globally should prioritize integrating NVC training into their curricula to equip students with essential communication skills for diverse healthcare settings. The study's findings serve as a valuable reference for lecturers, emphasizing the importance of employing effective NVC during online feedback sessions. This is crucial as NVC, though occurring online synchronously, remains pivotal in conveying nuanced information. Additionally, educators require ongoing professional development to enhance proficiency in utilizing NVC techniques in virtual learning environments. Potential research directions stemming from the study's findings include longitudinal investigations into the evolution of NVC patterns, comparative analyses across disciplines, cross-cultural examinations, interventions to improve NVC skills, exploration of technology's role in NVC enhancement, qualitative studies on student perceptions, and interdisciplinary collaborations to deepen understanding of NVC in virtual learning environments.

  8. Lee JX, Tan YJ, Ismail NAS
    Int J Mol Sci, 2024 Nov 15;25(22).
    PMID: 39596340 DOI: 10.3390/ijms252212275
    NPHS1 and NPHS2 are kidney gene components that encode for nephrin and podocin, respectively. They play a role in the progression of congenital (CNS) and steroid-resistant (SRNS) nephrotic syndrome. Hence, this study aimed to determine the prevalence and renal outcomes of NPHS mutations among pediatric patients with CNS and SRNS. We also aimed to identify potential predictors of NPHS mutations in this patient cohort. Overall, this study included 33 studies involving 2123 patients screened for NPHS1, whereas 2889 patients from 40 studies were screened for NPHS2 mutations. The patients' mean age was 4.9 ± 1 years (ranging from birth to 18 years), and 56% of patients were male (n = 1281). Using the random-effects model, the pooled proportion of NPHS1 mutations among pediatric patients with CNS and SRNS was 0.15 (95% CI 0.09; 0.24, p < 0.001, I2 = 92.0%). The pooled proportion of NPHS2 mutations was slightly lower, at 0.11 (95% CI 0.08; 0.14, p < 0.001, I2 = 73.8%). Among the 18 studies that reported ESRF, the pooled proportion was 0.47 (95% CI 0.34; 0.61, p < 0.001, I2 = 75.4%). Our study showed that the NPHS1 (β = 1.16, p = 0.35) and NPHS2 (β = 5.49, p = 0.08) mutations did not predict ESRF in CNS and SRNS pediatric patients. Nevertheless, patients from the European continent who had the NPHS2 mutation had a significantly higher risk of developing ESRF (p < 0.05, β = 1.3, OR = 7.97, 95% CI 0.30; 2.30) compared to those who had the NPHS1 mutation. We recommend NPHS mutation screening for earlier diagnosis and to avoid unnecessary steroid treatments. More data are needed to better understand the impact of NPHS mutations among pediatric patients with CNS and SRNS.
  9. Cheung TT, Ismail NAS, Moir R, Arora N, McDonald FJ, Condliffe SB
    Front Physiol, 2019;10:7.
    PMID: 30800070 DOI: 10.3389/fphys.2019.00007
    The epithelial Na+ channel (ENaC) provides for Na+ absorption in various types of epithelia including the kidney, lung, and colon where ENaC is localized to the apical membrane to enable Na+ entry into the cell. The degree of Na+ entry via ENaC largely depends on the number of active channels localized to the cell membrane, and is tightly controlled by interactions with ubiquitin ligases, kinases, and G-proteins. While regulation of ENaC endocytosis has been well-studied, relatively little is understood of the proteins that govern ENaC exocytosis. We hypothesized that the annexin II light chain, p11, could participate in the transport of ENaC along the exocytic pathway. Our results demonstrate that all three ENaC channel subunits interacted with p11 in an in vitro binding assay. Furthermore, p11 was able to immunoprecipitate ENaC in epithelial cells. Quantitative mass spectrometry of affinity-purified ENaC-p11 complexes recovered several other trafficking proteins including HSP-90 and annexin A6. We also report that p11 exhibits a robust protein expression in cortical collecting duct epithelial cells. However, the expression of p11 in these cells was not influenced by either short-term or long-term exposure to aldosterone. To determine whether the p11 interaction affected ENaC function, we measured amiloride sensitive Na+ currents in Xenopus oocytes or mammalian epithelia co-expressing ENaC and p11 or a siRNA to p11. Results from these experiments showed that p11 significantly augmented ENaC current, whereas knockdown of p11 decreased current. Further, knockdown of p11 reduced ENaC cell surface population suggesting p11 promotes membrane insertion of ENaC. Overall, our findings reveal a novel protein interaction that controls the number of ENaC channels inserted at the membrane via the exocytic pathway.
  10. Jayashankar SS, Nasaruddin ML, Hassan MF, Dasrilsyah RA, Shafiee MN, Ismail NAS, et al.
    Diagnostics (Basel), 2023 Aug 02;13(15).
    PMID: 37568933 DOI: 10.3390/diagnostics13152570
    Non-invasive prenatal testing was first discovered in 1988; it was primarily thought to be able to detect common aneuploidies, such as Patau syndrome (T13), Edward Syndrome (T18), and Down syndrome (T21). It comprises a simple technique involving the analysis of cell-free foetal DNA (cffDNA) obtained through maternal serum, using advances in next-generation sequencing. NIPT has shown promise as a simple and low-risk screening test, leading various governments and private organizations worldwide to dedicate significant resources towards its integration into national healthcare initiatives as well as the formation of consortia and research studies aimed at standardizing its implementation. This article aims to review the reliability of NIPT while discussing the current challenges prevalent among different communities worldwide.
  11. Khoo MS, Ahmad Azman AH, Ismail NAS, Abdul Wahab A, Ali A
    Heliyon, 2024 Apr 15;10(7):e28574.
    PMID: 38596105 DOI: 10.1016/j.heliyon.2024.e28574
    OBJECTIVES: Rotavirus (RoV) infections have emerged as a significant public health concern around the world. Understanding the relationship between climatic conditions and hospitalisations due to RoV infections can help engage effective prevention strategies. This study aims to investigate the potential associations between meteorological variability and RoV-related hospitalisations in Kuala Lumpur, Malaysia.

    METHODS: Hospitalization data from a tertiary teaching hospital in Kuala Lumpur over a twelve-year period were retrospectively collected. Concurrently, meteorological data were obtained from the Malaysian Meteorological Department (MetMalaysia) including variables of temperature, humidity, precipitation, and atmospheric pressure to further demonstrate relationship with RoV-associated hospitalisations.

    RESULTS: The results indicated positive correlations between increased rainfall, rainy days, humidity, and RoV-related hospitalisations, suggesting the influence of environmental factors on the transmission of RoV.

    CONCLUSIONS: This study highlights positive associations between meteorological variations and hospitalizations for RoV infections in Kuala Lumpur, Malaysia. Further investigations, including national-level data, are needed to deepen our understanding of these associations, particularly within the context of Malaysia and to develop targeted interventions for disease prevention and control.

  12. Shukor MFA, Musthafa QA, Mohd Yusof YA, Wan Ngah WZ, Ismail NAS
    Diagnostics (Basel), 2023 Jan 04;13(2).
    PMID: 36672997 DOI: 10.3390/diagnostics13020188
    Coronary artery disease (CAD) is often associated with the older generation. However, in recent years, there is an increasing trend in the prevalence of CAD among the younger population; this is known as premature CAD. Although biomarkers for CAD have been established, there are limited studies focusing on premature CAD especially among the Malay male population. Thus, the aim of this research was to compare the biomarkers between premature CAD (PCAD) and older CAD (OCAD) among Malay males. Subjects, recruited from the Universiti Kebangsaan Malaysia Medical Centre and National Heart Institution, were divided into four groups: healthy control < 45 years old; premature CAD (PCAD) < 45 years old; healthy control > 60 years old; and older CAD (OCAD) > 60 years old, with n = 30 for each group. Ten potential markers for CAD including soluble sVCAM-1, sICAM-1, interleukin-2, interleukin-6, interleukin-10, Apo-E and Apo-A1, homocysteine, CRP, and vitamin D levels were examined. Our results revealed premature CAD patients had significantly higher values (p < 0.05) of sVCAM-1, CRP, interleukin-6, and vitamin D when compared to the age-matched controls. Similarly, older CAD patients showed higher levels of sVCAM-1, CRP, and interleukin-2 when compared to their age-matched controls. After adjusting for multiple parameters, only CRP remained significant for PCAD and interleukin-2 remained significant for CAD. This indicates that premature CAD and older CAD patients showed different profiles of protein biomarkers. CRP has the potential to become a biomarker for premature CAD while interleukin-2 is a better biomarker for older CAD together with other typical panels of protein biomarkers.
  13. Kamal S, Kamaralzaman S, Sharma S, Jaafar NH, Chern PM, Hassan NI, et al.
    Nutrients, 2022 Dec 09;14(24).
    PMID: 36558401 DOI: 10.3390/nu14245241
    Individuals with cerebral palsy (CP) frequently present with multiple feeding problems, which may require food texture modification to ensure safe feeding. This review aims to explore the challenges individuals with CP and their caregiver's face and recommend modified food textures to ensure safety and improve the quality of life and nutritional status. A systematic search was carried out through four databases (i.e., EBSCO (Medline), PubMed, Science Direct, and Web of Science) between January 2011 and May 2022. Out of 86 articles retrieved, seven were selected based on keywords and seven other studies through manual search-five cross-sectional studies, two qualitative studies, one correlational study, one mixed method study, one case-control study, two sections of books, and two educational materials. The findings suggest that preparation and intake of food with modified texture play a necessary role in the safety of swallowing in addition to physical, social, and environmental aspects. Safety was found to be the crucial part of the food texture modification provision besides considering the stress of the caregivers and the nutritional status of individuals with CP. Currently, there are no standard guidelines available pertaining to food texture modification. This led to uncertainties in the dietary provision among caregivers, which may lead to undernourishment. Hence, standard guidelines relating to food texture modification that focuses on food preparation and menus with calorie and nutrient information are timely to be developed.
  14. Suhaini SA, Azidin AH, Cheah CS, Lee Wei Li W, Khoo MS, Ismail NAS, et al.
    Medicina (Kaunas), 2022 Dec 12;58(12).
    PMID: 36557034 DOI: 10.3390/medicina58121833
    Background and Objectives: Kawasaki Disease (KD) incidence has been on the rise globally throughout the years, particularly in the Asia Pacific region. KD can be diagnosed based on several clinical criteria. Due to its systemic inflammatory nature, multi-organ involvement has been observed, making the diagnosis of KD more challenging. Notably, several studies have reported KD patients presenting with hepatobiliary abnormalities. Nonetheless, comprehensive data regarding the hepatobiliary manifestations of KD are limited in Malaysia, justifying a more in-depth study of the disease in this country. Thus, in this article, we aim to discuss KD patients in Malaysia with hepatobiliary manifestations. Materials and Methods: A total of six KD patients with hepatobiliary findings who presented at Hospital Canselor Tuanku Muhriz (HCTM) from 2004 to 2021 were selected and included. Variables including the initial presenting signs and symptoms, clinical progress, laboratory investigations such as liver function test (LFT), and ultrasound findings of hepatobiliary system were reviewed and analyzed. Results: Out of these six KD patients, there were two patients complicated with hepatitis and one patient with gallbladder hydrops. Different clinical features including jaundice (n = 3) and hepatomegaly (n = 4) were also observed. All patients received both aspirin and intravenous immunoglobulin (IVIG) as their first-line treatment and all of them responded well to IVIG. The majority of them (n = 5) had a complete recovery and did not have any cardiovascular and hepatobiliary sequelae. Conclusions: Despite KD mostly being diagnosed with the classical clinical criteria, patients with atypical presentations should always alert physicians of KD as one of the possible differential diagnoses. This study discovered that hepatobiliary manifestations in KD patients were not uncommon. More awareness on the epidemiology, diagnosis, and management of KD patients with hepatobiliary manifestations are required to allow for the initiation of prompt treatment, thus preventing further complications.
  15. Kamal S, Hamzaid NH, Kamaralzaman S, Sharma S, Jaafar NH, Chern PM, et al.
    Transl Pediatr, 2023 Sep 18;12(9):1601-1618.
    PMID: 37814717 DOI: 10.21037/tp-23-195
    BACKGROUND: Individuals with severe cerebral palsy (CP) often experience various health issues, including feeding difficulties, which can adversely affect their nutritional status and caregivers' quality of life, e.g., more time spent for feeding rather than own selfcare. This study aimed to determine the prevalence of poor nutritional status among individuals with severe CP and explore its role as predictors for caregivers' quality of life.

    METHODS: This cross-sectional study was conducted in a government hospital (Cheras Rehabilitation Hospital), Community-Based Rehabilitation (CBR) Program, and Spastic Centre [non-profit organization (NGO)] in Klang Valley, Malaysia. Seventy-one participants with Gross Motor Function Classification System (GMFCS) level IV and V were recruited. Sociodemographic data, health-associated data, and anthropometric data were collected. Caregivers' quality of life was assessed using the Pediatric Quality of Life Inventory (PedsQL) CP module version 3.0 which included domains such as Movement and Balance, Eating Activities, and School Activities.

    RESULTS: Most participants were males (60.6%), with 61 classified as level IV in the GMFCS classification. According to the Eating and Drinking Ability Classification System (EDACS), 59 children were at level IV. In total, 40.8% were underweight according to CP growth chart and 49.3% had mid-upper arm circumference (MUAC) readings below the 5th percentile. The lowest scores in the PedsQL CP module version 3.0 were observed in the Daily Activities (5.34±10.87), and School Activities domains (8.15±18.65). Sociodemographic and anthropometric data, including body mass index (BMI)-for-age, MUAC, body fat, triceps, and subscapular skinfold measurement, were predictors for the School Activities domain [F (11, 44)=3.981, P<0.005, R2=0.499].

    CONCLUSIONS: Poor nutritional status in individuals with severe CP has been shown to negatively impact caregivers' quality of life. Therefore, a multidisciplinary approach involving nutritional intervention is essential to improve dietary provision and the nutritional status of children with CP.

  16. Muhamad Ismail NAS, Yap SH, Mohamad Yussoff MA, Nor Muhammad NA, Firdaus-Raih M, Quay DHX
    J Biomol Struct Dyn, 2023;41(13):6027-6039.
    PMID: 35862639 DOI: 10.1080/07391102.2022.2100827
    Burkholderia Lethal Factor 1 (BLF1) is a deamidase first characterized in Burkholderia pseudomallei. This enzyme inhibits cellular protein synthesis by deamidating a glutamine residue to a glutamic acid in its target protein, the eukaryotic translation initiation factor 4 A (eIF4A). In this work, we present the characterization of a hypothetical protein from Xanthomonas sp. Leaf131 as the first report of a BLF1 family ortholog outside of the Burkholderia genus. Although standard sequence similarity searches such as BLAST were not able to detect the homology between the Xanthomonas sp. Leaf131 hypothetical protein sequence and BLF1, our computed structure model for the Xanthomonas sp. hypothetical protein revealed structural similarities with an RMSD of 2.7 Å/164 Cα atoms and a TM-score of 0.72 when superposed. Structural comparisons of the Xanthomonas model structure against BLF1 and Escherichia coli cytotoxic necrotizing factor 1 (CNF1) revealed that the conserved signature LXGC motif and putative catalytic residues are structurally aligned thus signifying a level of functional or mechanistic similarity. Protein-protein docking analysis and molecular dynamics simulations also demonstrated that eIF4A could still be a possible target substrate for deamidation by XLF1 as it is for BLF1. We therefore propose that this Xanthomonas hypothetical protein be renamed as Xanthomonas Lethal Factor 1 (XLF1). Our work also provides further evidence of the utility of programs such as AlphaFold in bridging the computational function annotation transfer gap despite very low sequence identities of under 20%.Communicated by Ramaswamy H. Sarma.
  17. Ahmad Azahari AHS, Hakim Zada F, Ismail IH, Abd Hamid IJ, Lim BWD, Ismail NAS, et al.
    Front Immunol, 2023;14:1308305.
    PMID: 38283358 DOI: 10.3389/fimmu.2023.1308305
    BACKGROUND: Primary Immunodeficiency Disease (PID), also known as Inborn Errors of Immunity (IEI), comprises a group of rare genetic disorders that impair the body's immune responses. These conditions result from monogenic germline mutations that affect the function of genes governing the innate and adaptive immune system. Therefore, individuals with PID are more susceptible to infectious diseases, allergies, and autoimmune and autoinflammatory conditions. The prevalence of PID has been on the rise, with the number of classified diseases reaching 404, and 430 genetic defects reported to cause these conditions. However, in Malaysia, genetic testing for PID is currently limited and needs to be outsourced to overseas laboratories, posing financial challenges for families. Moreover, limited research has focused on the knowledge and awareness of genetic testing among parents of children with PID in Malaysia. This study aims to address this gap and provide valuable insights into the knowledge, awareness, and perception of genetic testing among this specific population.

    METHOD: This qualitative cross-sectional study utilised online open-ended, semi-structured focus group interviews to explore the perceptions and experiences of parents of children with Primary Immunodeficiency (PID). Participants were recruited through convenience sampling from the Malaysian Patient Organisation for Primary Immunodeficiencies (MyPOPI), a non-governmental organisation dedicated to providing support and raising awareness about PID. The study spanned from May 2023 to July 2023 and included participants from diverse regions of Malaysia who had undergone different diagnostic journeys in various hospitals.

    RESULT: The focus group discussions yielded 11 sub-themes that highlighted the experiences, understanding and challenges of the participants regarding genetic testing based on the semi-structured questions. These sub-themes were then grouped into four main themes that are awareness and understanding of genetic testing, the journey towards diagnosis and treatment, emotional impact and psychological factors, and the importance of medical experts in diagnosing and managing PID, as well as public perception and awareness.

    CONCLUSION: In conclusion, this study highlights the diverse knowledge, awareness, and perception surrounding genetic testing for PID. Factors such as access to services, family history, and personal circumstances shape individuals' understanding of genetic testing. The importance of healthcare professionals, along with the need for improved accessibility and targeted communication strategies, is underscored to enhance understanding and reduce stigma surrounding genetic testing for rare diseases like PID.

  18. Hasan H, Nasirudeen NA, Ruzlan MAF, Mohd Jamil MA, Ismail NAS, Wahab AA, et al.
    Children (Basel), 2021 Dec 02;8(12).
    PMID: 34943308 DOI: 10.3390/children8121112
    Acute infectious gastroenteritis (AGE) is among the leading causes of mortality in children less than 5 years of age worldwide. There are many causative agents that lead to this infection, with rotavirus being the commonest pathogen in the past decade. However, this trend is now being progressively replaced by another agent, which is the norovirus. Apart from the viruses, bacteria such as Salmonella and Escherichia coli and parasites such as Entamoeba histolytica also contribute to AGE. These agents can be recognised by their respective biological markers, which are mainly the specific antigens or genes to determine the causative pathogen. In conjunction to that, omics technologies are currently providing crucial insights into the diagnosis of acute infectious gastroenteritis at the molecular level. Recent advancement in omics technologies could be an important tool to further elucidate the potential causative agents for AGE. This review will explore the current available biomarkers and antigens available for the diagnosis and management of the different causative agents of AGE. Despite the high-priced multi-omics approaches, the idea for utilization of these technologies is to allow more robust discovery of novel antigens and biomarkers related to management AGE, which eventually can be developed using easier and cheaper detection methods for future clinical setting. Thus, prediction of prognosis, virulence and drug susceptibility for active infections can be obtained. Case management, risk prediction for hospital-acquired infections, outbreak detection, and antimicrobial accountability are aimed for further improvement by integrating these capabilities into a new clinical workflow.
  19. Cheah CS, Lee WWL, Suhaini SA, Azidin AH, Khoo MS, Ismail NAS, et al.
    Front Pediatr, 2022;10:1090928.
    PMID: 36714643 DOI: 10.3389/fped.2022.1090928
    INTRODUCTION: Kawasaki disease (KD) is an acute idiopathic systemic vasculitis with a self- limiting course that predominantly affects children under 5 years old, particularly in the East Asian countries. Nevertheless, to date, the data on KD in Malaysia are limited. This study aimed to evaluate the epidemiology, clinical features, treatment, and outcomes of KD among the pediatric patients admitted to Hospital Canselor Tunku Muhriz (HCTM), Kuala Lumpur, Malaysia.

    METHOD: A retrospective cohort study of 66,500 pediatric patients presented at HCTM from the year 2004 to 2021 was conducted.

    RESULTS: 62 KD cases out of 66,500 pediatric admissions were reported, with a male-to-female ratio of 1.58 to 1. Majority of KD patients (95.0%) were younger than 5 years old. Prior infection was reported in 5 KD patients (8.1%). Apart from the classical features, manifestations of various organ systems including cardiovascular (16.1%), gastrointestinal (43.5%), neurological (1.61%), musculoskeletal (1.61%), and genitourinary (17.7%) systems were observed. There was a significant association between sterile pyuria and coronary artery aneurysm (CAA) (p 

  20. Musthafa QA, Abdul Shukor MF, Ismail NAS, Mohd Ghazi A, Mohd Ali R, M Nor IF, et al.
    Free Radic Res, 2017 Oct;51(9-10):787-798.
    PMID: 28899235 DOI: 10.1080/10715762.2017.1379602
    Identifying patients at risk of developing premature coronary artery disease (PCAD) which occurs at age below 45 years old and constitutes approximately 7-10% of coronary artery disease (CAD) worldwide remains a problem. Oxidative stress has been proposed as a crucial step in the early development of PCAD. This study was conducted to determine the oxidative status of PCAD in comparison to CAD patients. PCAD (<45 years old) and CAD (>60 years old) patients were recruited with age-matched controls (n = 30, each group). DNA damage score, plasma malondialdehyde (MDA) and protein carbonyl content were measured for oxidative damage markers. Antioxidants such as erythrocyte glutathione (GSH), oxidised glutathione (GSSG), and glutathione peroxidase activity (GPx), superoxide dismutase (SOD) and catalase (CAT) were also determined. DNA damage score and protein carbonyl content were significantly higher in both PCAD and CAD when compared to age-matched controls while MDA level was increased only in PCAD (p
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