Displaying publications 1 - 20 of 138 in total

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  1. Sudin A, Chong C, Hassan R
    J Cardiothorac Vasc Anesth, 2024 Feb;38(2):466-474.
    PMID: 38114372 DOI: 10.1053/j.jvca.2023.11.014
    OBJECTIVE: To determine the incidence of poststernotomy pain syndrome (PSPS) after open cardiac surgery in 2021. To determine characteristics and assess the severity of symptoms in patients diagnosed with PSPS. To identify factors that can be associated with patients who were positive for PSPS.

    DESIGN AND METHODOLOGY: This study used a retrospective observational approach. Logistic regression analysis was employed to identify factors associated with the positive group.

    SETTING: This study included all adult patients who underwent open cardiac surgery at the National Heart Institute, Malaysia, in 2021.

    PARTICIPANTS: A total of 1,395 patients were enrolled.

    INTERVENTIONS: The study involved conducting phone interviews to assess the presence of PSPS, followed by administering the Brief Pain Inventory questionnaire in the positive group to identify characteristics and severity of chronic pain.

    MEASUREMENTS AND MAIN RESULTS: The incidence of PSPS after open cardiac surgery in 2021 was 20.35%. A total of 17.7% of patients reported that pain affected their daily activities, sleep, or emotions. Univariate analysis identified factors associated with PSPS, including age <60 years old, body mass index >30 kg/m2, history of previous percutaneous coronary intervention, ejection fraction <50%, the absence of chronic kidney disease (CKD), and internal mammary artery harvesting (p < 0.05). Multivariate analysis revealed that 4 independent factors were associated with PSPS: age <60 years old, history of previous percutaneous coronary intervention, ejection fraction <50%, and the absence of CKD (as compared with CKD) (p < 0.05).

    CONCLUSIONS: Poststernotomy pain syndrome is a complex issue affected by various factors. Although the pain score may not be as severe as previously believed, it remains crucial to recognize PSPS because a significant proportion of patients are affected.

  2. Hui TX, Kasim S, Aziz IA, Fudzee MFM, Haron NS, Sutikno T, et al.
    BMC Bioinformatics, 2024 Jan 12;25(1):23.
    PMID: 38216898 DOI: 10.1186/s12859-024-05632-w
    BACKGROUND: With the exponential growth of high-throughput technologies, multiple pathway analysis methods have been proposed to estimate pathway activities from gene expression profiles. These pathway activity inference methods can be divided into two main categories: non-Topology-Based (non-TB) and Pathway Topology-Based (PTB) methods. Although some review and survey articles discussed the topic from different aspects, there is a lack of systematic assessment and comparisons on the robustness of these approaches.

    RESULTS: Thus, this study presents comprehensive robustness evaluations of seven widely used pathway activity inference methods using six cancer datasets based on two assessments. The first assessment seeks to investigate the robustness of pathway activity in pathway activity inference methods, while the second assessment aims to assess the robustness of risk-active pathways and genes predicted by these methods. The mean reproducibility power and total number of identified informative pathways and genes were evaluated. Based on the first assessment, the mean reproducibility power of pathway activity inference methods generally decreased as the number of pathway selections increased. Entropy-based Directed Random Walk (e-DRW) distinctly outperformed other methods in exhibiting the greatest reproducibility power across all cancer datasets. On the other hand, the second assessment shows that no methods provide satisfactory results across datasets.

    CONCLUSION: However, PTB methods generally appear to perform better in producing greater reproducibility power and identifying potential cancer markers compared to non-TB methods.

  3. Iberahim S, Muhamat Yusoff R, Mohd Noor NH, Hassan R, Ramli NN, Bahar R, et al.
    Cureus, 2024 Jan;16(1):e51483.
    PMID: 38304638 DOI: 10.7759/cureus.51483
    Background Prolonged immobilization is widely recognized as a risk factor for thromboembolism. In this prospective study, we investigated the changes in clot waveform analysis (CWA) parameters in prolonged immobilized patients following lower limb trauma. CWA is an advanced method for assessing global coagulation that involves continuously monitoring changes in light transmittance, absorbance, or light scattering during routine clotting tests. Additionally, we also aim to determine the CWA parameters between day one and after day three of immobilization. Methods A total of 30 patients with prolonged immobilization were enrolled in this study. The plasma of these patients was collected on the first day of their admission and subsequently obtained again after day three of immobilization. Prothrombin time (PT)-based CWA and activated partial thromboplastin time (aPTT)-based CWA were performed using the ACL TOP 300 CTS (Werfen: Bedford, USA) coagulation analyzer, which utilizes the optical method for clot detection. Plasma samples for 20 normal controls were recruited from a healthy blood donor. The CWA parameters generated during clot formation were analyzed. For the comparison of CWA parameters between patients with prolonged immobilization and healthy controls, the Mann-Whitney test was used. A paired t-test was used for the comparison of clot wave parameters between day one and after day three of immobilization. This study was approved by the Universiti Sains Malaysia Research Ethics Committee. Result The mean values of PT and aPTT in healthy controls were 11.66 seconds and 33.98 seconds, respectively. There was no statistically significant difference between the patients and the healthy controls in the median values of aPTT (P=0.935). However, patients with prolonged immobilization exhibited significantly higher median PT CWA parameter values than controls (P=0.007). These parameters included the delta change (P<0.001), peak time velocity (P=0.008), and height velocity (P<0.001). On the other hand, the delta change (P<0.001) and height velocity (P<0.001) of the aPTT CWA parameters were significantly higher in patients with prolonged immobilization than in controls. In patients with prolonged immobilization, there was no significant difference in PT CWA parameters between day one and after day three of immobilization, while for aPTT CWA, all parameters were higher on day three, except for the endpoint time. Conclusion Patients with prolonged immobilization exhibit increased PT and aPTT CWA parameters compared to normal controls. CWA parameters could aid in identifying patients at risk of developing thrombosis through changes in the clot waveform. However, further study is needed to fully utilize additional information from routine coagulation testing.
  4. Zreaqat M, Hassan R, Samsudin AR, Alforaidi S
    Eur J Pediatr, 2023 Dec;182(12):5501-5510.
    PMID: 37777602 DOI: 10.1007/s00431-023-05226-3
    Twin-block appliance had been advocated as a potential treatment option in paediatric obstructive sleep apnoea (OSA) due to their favourable effect in enhancing upper airway parameters and improving OSA symptoms. The aim of this study was to evaluate the effect of twin-block appliance therapy on upper airway parameters/dimensions and the apnoea-hypopnea indexes (AHIs) in OSA children with class II mandibular retrognathic skeletal malocclusion using cone-beam computed tomography. This prospective longitudinal study comprised 34 polysomnography-proven OSA growing children with class II mandibular retrognathic skeletal malocclusion between the ages of 8 and 12 years who had completed myofunctional twin-block therapy and matched corresponding controls. The upper airway was segmented into the nasopharynx, oropharynx, and hypopharynx, and the effect of twin-bock treatment on upper airway parameters/dimensions was assessed pre- and posttreatment using CBCT analysis, while a second standard overnight PSG was performed to determine changes in the AHI. At the nasopharynx level, minimal (nonsignificant) increases in all variables were observed within the twin-block group and between the groups (P > 0.05). At the level of the oropharynx, all variables increased significantly in the treatment group and between groups (P 
  5. Alforaidi S, Zreaqat M, Hassan R
    J Contemp Dent Pract, 2023 Dec 01;24(12):987-990.
    PMID: 38317397 DOI: 10.5005/jp-journals-10024-3606
    AIM: To determine dental arch relationships of Saudi children born with nonsyndromic complete unilateral cleft lip and palate (UCLP).

    MATERIAL AND METHODS: This is a retrospective cohort study that comprised dental study models of 74 UCLP Saudi children aged 8-10 years who were recruited from 14 referral cleft centers. All participants had their cleft lip and palate repaired with no history of alveolar bone graft or any orthodontic treatment. Dental arch relationships of UCLP patients were assessed using the Great Ormond Street, London, and Oslo (GOSLON) Yardstick-a clinical tool that categorizes dental relationships of UCLP children into five discrete grades from I to V. The reliability of the rating was assessed with weighted kappa (κ) statistics.

    RESULTS: Three children (4.1%) had excellent surgical outcomes (grade I), 18 children (24.3%) filled into grade II (good outcome), 22 subjects (29.7%) had grade III (fair outcome), 27 children (36.5%) had grade IV (poor outcome), and 4 subjects (5.4%) were ranked as having very poor outcomes (grade V). The mean GOSLON score was 3.39. Intrarater and interrater agreements were high indicating good reproducibility.

    CONCLUSION: Based on the dental arch relationships, the treatment outcome of UCLP Saudi children was unsatisfactory, with a mean GOSLON score of 3.39. Delayed palate repair and the use of presurgical orthopedics may be considered in the future for cleft deformity management.

    CLINICAL SIGNIFICANCE: To address the effect of particular cleft surgical protocol on dental arch relationships of UCLP patients. How to cite this article: Alforaidi S, Zreaqat M, Hassan R. Dental Arch Relationships of Saudi Children with Unilateral Cleft Lip and Palate. J Contemp Dent Pract 2023;24(12):987-990.

  6. Ahmad S, Lambuk L, Ahmed N, Mussa A, Tee V, Mohd Idris RA, et al.
    Nanomedicine (Lond), 2023 Oct;18(24):1733-1744.
    PMID: 37982749 DOI: 10.2217/nnm-2022-0300
    Background: Nab-paclitaxel is formulated to address several limitations of paclitaxel. Methods: A systematic review was done of several databases and a meta-analysis with a random-effects model was conducted to assess the efficacy and safety of nab-paclitaxel in metastatic gastric cancer (MGC). Results: Included studies revealed that nab-paclitaxel provides a 30.4% overall response rate and 65.7% disease control rate in MGC patients. The overall survival was 9.65 months and progression-free survival was 4.48 months, associated with the treatment line and regimen. The highest incidence of grade 3 and higher treatment-related adverse events was for neutropenia (29.9%). Conclusion: Nab-paclitaxel provides better disease response and longer survival with manageable side effects in MGC compared with paclitaxel.
  7. Ho SF, Tan SJ, Mazlan MZ, Iberahim S, Lee YX, Hassan R
    Diagnostics (Basel), 2023 Jul 21;13(14).
    PMID: 37510189 DOI: 10.3390/diagnostics13142445
    Sepsis is a major cause of mortality and morbidity in intensive care units. This case-control study aimed to investigate the haematology cell population data and extended inflammatory parameters for sepsis management. The study included three groups of patients: sepsis, non-sepsis, and healthy controls. Patients suspected of having sepsis underwent a Sequential Organ Failure Assessment (SOFA) evaluation and had blood drawn for blood cultures, complete peripheral blood counts (CBC), and measurements of various markers such as C-reactive protein (CRP), procalcitonin (PCT), and interleukin-6 (IL-6). We observed significant changes in numerous CBC parameters and extended inflammation parameters (EIPs), in addition to significant biochemical analysis markers CRP and IL-6 in sepsis cohorts. Multiple logistic regression analyses showed that combining different CBC parameters and EIPs were effective to profile these patients. Two different models have been developed using white blood cell counts and their extended parameters. Our findings indicate that the absolute counts of white blood cells, and the EIPs which reflect their activation states, are important for the prediction and assessment of sepsis, as the body responds to an insult that triggers an immune response. In an emergency situation, having timely updates on patient conditions becomes crucial for guiding the management process. Identifying trends in these specific patient groups will aid early diagnosis, complementing clinical signs and symptoms, especially as CBC is the most commonly ordered test in a diagnostic workup.
  8. Ramasamy SP, Shahzad A, Hassan R
    J Educ (Boston), 2023 Jul;203(3):596-604.
    PMID: 37415619 DOI: 10.1177/00220574211032599
    In the emergence of pandemic Coronavirus Disease (COVID-19), the delivery of education service becomes a global issue, and many traditional higher education institutes are shifting toward digital alternatives methods. E-learning is considered the most appropriate effective method of knowledge delivery to meet the current academic requirements. This study investigates the key determinants which influence the Intentions to use e-learning among students in higher education institutes in Malaysia due to the outbreak of the novel Covid-19 pandemic. The data were collected through structured questionnaires from students. The data were analyzed using the structural equation modeling using partial least squares (SEMPLS). The research findings revealed that Attitude, Subjective Norm, Perceived usefulness, and Perceived behavioral becomes a positive predictor of Intention to use e-learning. However, Subjective norms found no significant effect on Intention to use e-learning in the Malaysian context. It is due to the COVID-19 emergency that an individual must choose for the e-learning method disregarding their perceptions. Perceived ease of use and Perceived usefulness has a significant positive effect on attitude. These findings offer guidelines to educational institutes for the implementation of the e-learning system during unavoidable circumstances for the sustainable education system.
  9. Zulkeflee RH, Hassan MN, Hassan R, Saidin NIS, Zulkafli Z, Ramli M, et al.
    Transfus Apher Sci, 2023 Jun;62(3):103658.
    PMID: 36805153 DOI: 10.1016/j.transci.2023.103658
    Acute hemolytic transfusion reaction following ABO-incompatible platelet transfusion: two case reports An ideal platelet transfusion should provide ABO identical platelet concentrate, and cross match compatibility is not routinely performed in the standard practices. However, ABO non identical platelet transfusions are not uncommon with the limited resources and short shelf life of platelet concentrate. Though rare, acute hemolytic transfusion reaction (AHTR) may occur following minor ABO-incompatible platelet transfusion. Here, we report two cases of thrombocytopenic patients (one child and one adult) type as Group B RhD positive and received Group O RhD positive platelet transfusions. Both patients experienced an AHTR evidenced by a drop in hemoglobin level, spherocytosis and small agglutinations on the blood film, and positive direct Coombs test. They were treated symptomatically, recovered and discharged well post-event without any morbidity. No anti-B isohemagglutinins titer were done to confirm the high titer of the antibody in the platelet donors. Our cases highlighted the importance of ABO-compatible platelet transfusion, especially to children and those vigilant groups of patients.
  10. Mat Lazim N, Yousaf A, Abusalah MAH, Sulong S, Mohd Ismail ZI, Mohamud R, et al.
    Cancers (Basel), 2023 Mar 31;15(7).
    PMID: 37046772 DOI: 10.3390/cancers15072111
    Salivary gland carcinomas (SGCs) are a diverse collection of malignant tumors with marked differences in biological activity, clinical presentation and microscopic appearance. Although the etiology is varied, secondary radiation, oncogenic viruses as well as chromosomal rearrangements have all been linked to the formation of SGCs. Epigenetic modifications may also contribute to the genesis and progression of SGCs. Epigenetic modifications are any heritable changes in gene expression that are not caused by changes in DNA sequence. It is now widely accepted that epigenetics plays an important role in SGCs development. A basic epigenetic process that has been linked to a variety of pathological as well as physiological conditions including cancer formation, is DNA methylation. Transcriptional repression is caused by CpG islands hypermethylation at gene promoters, whereas hypomethylation causes overexpression of a gene. Epigenetic changes in SGCs have been identified, and they have been linked to the genesis, progression as well as prognosis of these neoplasms. Thus, we conduct a thorough evaluation of the currently known evidence on the involvement of epigenetic processes in SGCs.
  11. Mussa A, Afolabi HA, Syed NH, Talib M, Murtadha AH, Hajissa K, et al.
    Biomedicines, 2023 Mar 30;11(4).
    PMID: 37189677 DOI: 10.3390/biomedicines11041060
    Breast cancer (BC) is the most common cancer type among women with a distinct clinical presentation, but the survival rate remains moderate despite advances in multimodal therapy. Consequently, a deeper understanding of the molecular etiology is required for the development of more effective treatments for BC. The relationship between inflammation and tumorigenesis is well established, and the activation of the pro-inflammatory transcription factor nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) is frequently identified in BC. Constitutive NF-κB activation is linked to cell survival, metastasis, proliferation, and hormonal, chemo-, and radiotherapy resistance. Moreover, the crosstalk between NF-κB and other transcription factors is well documented. It is reported that vitamin C plays a key role in preventing and treating a number of pathological conditions, including cancer, when administered at remarkably high doses. Indeed, vitamin C can regulate the activation of NF-κB by inhibiting specific NF-κB-dependent genes and multiple stimuli. In this review, we examine the various NF-κB impacts on BC development. We also provide some insight into how the NF-κB network may be targeted as a potential vulnerability by using natural pro-oxidant therapies such as vitamin C.
  12. Ambayya A, Razali R, Sulong S, Zulkefli ES, Yap YY, Sathar J, et al.
    Cancers (Basel), 2023 Feb 22;15(5).
    PMID: 36900179 DOI: 10.3390/cancers15051386
    Characterising genomic variants is paramount in understanding the pathogenesis and heterogeneity of normal-karyotype acute myeloid leukaemia (AML-NK). In this study, clinically significant genomic biomarkers were ascertained using targeted DNA sequencing and RNA sequencing on eight AML-NK patients' samples collected at disease presentation and after complete remission. In silico and Sanger sequencing validations were performed to validate variants of interest, and they were followed by the performance of functional and pathway enrichment analyses for overrepresentation analysis of genes with somatic variants. Somatic variants involving 26 genes were identified and classified as follows: 18/42 (42.9%) as pathogenic, 4/42 (9.5%) as likely pathogenic, 4/42 (9.5%) as variants of unknown significance, 7/42 (16.7%) as likely benign and 9/42 (21.4%) as benign. Nine novel somatic variants were discovered, of which three were likely pathogenic, in the CEBPA gene with significant association with its upregulation. Transcription misregulation in cancer tops the affected pathways involving upstream genes (CEBPA and RUNX1) that were deregulated in most patients during disease presentation and were closely related to the most enriched molecular function gene ontology category, DNA-binding transcription activator activity RNA polymerase II-specific (GO:0001228). In summary, this study elucidated putative variants and their gene expression profiles along with functional and pathway enrichment in AML-NK patients.
  13. Ardani IGAW, Budipramana M, Rachmawati E, Nugraha AP, Ardana IKKG, Budhy TI, et al.
    Eur J Dent, 2023 Feb;17(1):183-190.
    PMID: 35672017 DOI: 10.1055/s-0042-1744371
    OBJECTIVE:  The aim of this article is to analyze and compare the presence of single-nucleotide polymorphisms (SNPs) of COL1A1 and FGFR2 in class II and class III Javanese populations.

    MATERIALS AND METHODS:  Cephalometric radiographs from total 63 patients of class II and III were analyzed. SNP analysis was performed based on both COL1A1 and FGFR2 sequences amplified from total DNA of patients' fresh blood. Principal component analysis was done to calculate the data and find the correlation of the cephalometric indicators influenced by each mutation. t-test and Mann-Whitney analysis were performed to check the significance of differences occurred in each studied parameter (p 

  14. Di Vaio A, Hasan S, Palladino R, Hassan R
    Environ Dev Sustain, 2023;25(1):734-810.
    PMID: 35035274 DOI: 10.1007/s10668-021-02078-5
    A transition towards a circular economy is a challenge. It is vital to know that circularity and sustainability are two different segments. So, circular economy can only be achieved in the long-term perspective. This study investigates accounting and accountability for circular economy and waste. Considering these principles and based on a critical review of the literature, economic gains from the transition toward a circular economy are measurable; the problems for corporations and governments are diverse; the way to handle the stakeholders who are losing control in the circular economy is considerable. Diffusion of innovation theory is used to conduct this study. It is essential that an organisational design built should help implement the circular model. Targeted questions responded by adopting a systematic literature review approach by applying PRISMA protocol. This study examines 78 publications in English between 2012 and 2021, which present a map of the circular economy-related knowledge published in web of science and Scopus. Besides, this study includes 03 European Commission reports, 01 Ellen Macarthur Foundation report, 01 Council for the Environment and Infrastructure report, 01 report from SUN IZA, 01 UN Global Compact and 01 the Brundtland Commission report. The results highlight how circular economy, waste management, sustainability, accountability, and management accounting practices help to develop an ecosystem and achieve sustainable development goals of the United Nations 2030 Agenda. Theoretical and practical implications are discussed.
  15. Bichi AA, Samsudin R, Hassan R, Hasan LRA, Ado Rogo A
    PLoS One, 2023;18(5):e0285376.
    PMID: 37159449 DOI: 10.1371/journal.pone.0285376
    Automatic text summarization is one of the most promising solutions to the ever-growing challenges of textual data as it produces a shorter version of the original document with fewer bytes, but the same information as the original document. Despite the advancements in automatic text summarization research, research involving the development of automatic text summarization methods for documents written in Hausa, a Chadic language widely spoken in West Africa by approximately 150,000,000 people as either their first or second language, is still in early stages of development. This study proposes a novel graph-based extractive single-document summarization method for Hausa text by modifying the existing PageRank algorithm using the normalized common bigrams count between adjacent sentences as the initial vertex score. The proposed method is evaluated using a primarily collected Hausa summarization evaluation dataset comprising of 113 Hausa news articles on ROUGE evaluation toolkits. The proposed approach outperformed the standard methods using the same datasets. It outperformed the TextRank method by 2.1%, LexRank by 12.3%, centroid-based method by 19.5%, and BM25 method by 17.4%.
  16. Hassan SN, Mohamad S, Kannan TP, Hassan R, Wei S, Wan Ab Rahman WS
    Asian J Transfus Sci, 2023;17(2):169-174.
    PMID: 38274953 DOI: 10.4103/ajts.ajts_125_21
    BACKGROUND AND OBJECTIVE: A number of glycophorin variant phenotypes or hybrid glycophorin variants of the MNS blood group system bear multiple immunogenic antigens such as Mia, Mur, and MUT. In the East and Southeast Asian populations, glycoprotein (GP.) Mur is the most common glycophorin variant phenotype expressing those three immunogens. The aim of this study was to detect MNS system glycophorin variant phenotypes (GP. Mur, GP. Hop, GP. Bun, GP. HF, and GP. Hut) among Malaysian blood donors.

    MATERIALS AND METHODS: In this cross-sectional study, 144 blood donors were selected under stratified random sampling. The deoxyribonucleic acid was extracted from whole blood samples, followed by a polymerase chain reaction assay. Sanger sequencing was used to identify the specific MNS variants and then validated by a serological crossmatch with known anti-Mur and anti-MUT.

    RESULTS: GP. Mur was identified among Malaysian blood donors with a prevalence of 6.94%, and no other variants of the MNS system were found.

    CONCLUSION: The present study substantiates that GP. Mur is the main variant of the MNS system glycophorin (B-A-B) hybrid in Malaysian blood donors. GP. Mur-negative red blood cells must therefore be considered in the current transfusion policy in order to prevent alloimmunization and immune-mediated transfusion reactions, particularly in transfusion-dependent patients.

  17. Ismail NH, Mussa A, Zakaria NA, Al-Khreisat MJ, Zahidin MA, Ramli NN, et al.
    Biomedicines, 2022 Oct 31;10(11).
    PMID: 36359286 DOI: 10.3390/biomedicines10112767
    Multiple myeloma (MM) is an exceptionally complicated and heterogeneous disease that is caused by the abnormal proliferation of malignant monoclonal plasma cells initiated in the bone marrow. In disease progression, a multistep process including differentiation, proliferation, and invasion is involved. Despite great improvement in treatment outcomes in recent years due to the substantial discovery of novel therapeutic drugs, MM is still regarded as an incurable disease. Patients with MM are afflicted by confronting remission periods accompanied by relapse or progression outcomes, which inevitably progress to the refractory stage. In this regard, MM may need new medications or modifications in therapeutic strategies to overcome resistance. A variety of genetic abnormalities (e.g., point mutations, translocations, and deletions) and epigenetic changes (e.g., DNA methylation, histone modification, and non-coding RNA) contribute to the pathogenesis and development of MM. Here, we review the significant roles of epigenetic mechanisms in the development and progression of MM. We also highlight epigenetic pathways as potential novel treatment avenues for MM, including their interplay, use of epigenetic inhibitors, and major involvement in immuno-oncology.
  18. Wong PY, How SH, Ismail I, Hassan R
    J Oncol Pharm Pract, 2022 Mar;28(2):471-474.
    PMID: 34565238 DOI: 10.1177/10781552211038899
    INTRODUCTION: Immunotherapy has been recognized as the standard of care in addition to chemotherapy in the treatment of advanced non-small cell lung cancer. Most immunotherapy trials, however, exclude patients with autoimmune disease owing to concerns of disease exacerbation.

    CASE REPORT: We report a case of a patient with advanced non-small cell lung cancer and underlying active psoriasis who experienced a remarkable response, without developing psoriasis flares, following treatment with a single dose of atezolizumab and first-line chemotherapy.

    MANAGEMENT AND OUTCOME: The patient remained asymptomatic 10 months since treatment discontinuation, without disease progression, despite having received only a single dose of atezolizumab and six cycles of chemotherapy.

    DISCUSSION: Little is known about the optimum duration required to achieve a durable response with immunotherapy. Patients with autoimmune disease are commonly excluded from immunotherapy trials owing to a higher risk of autoimmune disease flares or immune-related adverse events. The remarkable outcome observed in this case offers some insights into the possible durable response with limited doses of immunotherapy and a safer approach for administering immunotherapy in patients with autoimmune disease. Initiating chemotherapy to induce remission in active autoimmune disease prior to administering immunotherapy could potentially be an ideal approach that facilitates the use of immunotherapy in this patient population.

  19. Lama R, Yusof W, Shrestha TR, Hanafi S, Bhattarai M, Hassan R, et al.
    Hematol Oncol Stem Cell Ther, 2022 Mar 01;15(1):279-284.
    PMID: 33592169 DOI: 10.1016/j.hemonc.2021.01.004
    BACKGROUND: Beta-thalassemia is a genetic disorder that is inherited in an autosomal recessive pattern. This genetic disease leads to a defective beta-globin hemoglobin chain causing partial or complete beta-globin chain synthesis loss. Beta-thalassemia major patients need a continuous blood transfusion and iron chelation to maintain the normal homeostasis of red blood cells (RBCs) and other systems in the body. Patients also require treatment procedures that are costly and tedious, resulting in a serious health burden for developing nations such as Nepal.

    METHODS: A total of 61 individuals clinically diagnosed to have thalassemia were genotyped with multiplex amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Twenty-one major mutations were investigated using allele-specific primers grouped into six different panels.

    RESULTS: The most common mutations found (23%) were IVS 1-5 (G-C) and Cd 26 (G-A) (HbE), followed by 619 deletion, Cd 8/9 (+G), Cd 16 (-C), Cd 41/42 (-TTCT), IVS 1-1 (G-T), Cd 19 (A-G), and Cd 17 (A-T) at 20%, 12%, 8%, 6%, 4%, 3%, and 1%, respectively.

    CONCLUSION: The results of this study revealed that Nepal's mutational profile is comparable to that of its neighboring countries, such as India and Myanmar. This study also showed that thalassemia could be detected across 17 Nepal's ethnic groups, especially those whose ancestors originated from India and Central Asia.

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