The use of dietary supplements to improve well-being, including sleep quality, is increasing. This study aimed to describe dietary supplement use and determine the association between supplement intake and sleep quality among pregnant women in Johor, Malaysia. In this cross-sectional study, 131 pregnant women aged 18-49 in Johor Bahru were recruited through purposive sampling. Data collected included socio-demographic characteristics, anthropometric measurements, lifestyle factors, pregnancy status, supplement intake, and sleep quality, which were assessed using the Pittsburgh Sleep Quality Index (PSQI). Most subjects (93.9%) consumed at least one to two types of supplements, with prenatal supplements being the most common (51.2%). Most micronutrient intake from supplements was below the Recommended Nutrient Intake for Malaysia 2017, except for folic acid. Approximately half of the subjects (49.6%) exceeded the tolerable upper intake level for folic acid. Subjects who took supplements had a mean PSQI score of 7.1 ± 3.3, with a significant association between the intake of vitamin B12, vitamin C, or zinc and good sleep quality. In conclusion, most pregnant women in Johor consume one to two types of supplements daily. The intake of vitamin B12, vitamin C, and zinc is associated with good sleep quality in pregnant women. These findings raise concerns about the overconsumption of folic acid among pregnant women and underscore the need for healthcare professionals to provide accurate information and discuss potential risks related to supplement overconsumption.
Psychological factors such as low self-esteem, depressive and anxiety symptoms have been found to hinder stroke survivors’ social participation and adversely affect their quality of life. While there have been previous reviews that studied on interventions on social participation after stroke, there is a lack of studies that utilize psychological interventions for participation among stroke survivors. This review aims to provide a comprehensive overview of psychological interventions designed to improve post-stroke participation and assess their effectiveness. Three databases (MEDLINE, Scopus, and Web of Science) were used to identify relevant articles using search terms strategies that are related to stroke, participation and psychological health. Eligible articles are studies using randomized controlled trial or pre- and post-interventions design that measured participation and psychological outcomes. Eleven studies met the inclusion criteria, with varied sample sizes, intervention types, and measurement tools. The findings revealed that while psychological interventions can improve participation, inconsistencies in measurement and a lack of focus on participation as a primary outcome limit the strength of the conclusions, with some studies did not show long-term improvements. Positive effects on participation were observed in interventions involving home visits with multidisciplinary care, cognitive behavioural therapy (CBT) augmented with occupational therapy, self-management through virtual services, and group music therapy alongside occupational therapy. These findings highlight the need for further research focusing on psychological interventions with participation as primary outcomes in stroke rehabilitation.
Influenza A virus H5N1 remains a significant global health concern due to its high pathogenicity and potential for zoonotic transmission. This review explores the pathological impact of H5N1 infection, emphasizing its severe effects on the lower respiratory tract, including alveolar epithelial apoptosis, diffuse alveolar damage (DAD), and acute respiratory distress syndrome (ARDS). Upon infection, the virus induces a hyperinflammatory response, characterized by excessive cytokine production, leading to multi-organ failure and an alarmingly high human mortality rate of approximately 54%. Key histopathological findings, such as epithelial necrosis, vascular damage, and neurological involvement, underscore the severity of infection. Current treatment options, including neuraminidase inhibitors, remain limited, necessitating novel therapeutic strategies such as monoclonal antibody therapy and immune modulation. Additionally, the emergence of antiviral-resistant strains underscores the importance of continuous disease surveillance and vaccine development. This review highlights the urgent need for global preparedness and further research into H5N1 pathogenesis and countermeasures.
Globally, there is a growing emphasis on the direct implementation of research findings to daily practice and their seamless incorporation into routine nursing care. This emphasis stems from the realisation that evidencebased practise is essential to enhancing patient outcomes and advancing the nursing profession. Consequently, the imperative to conduct nursing research has emerged as a key priority. Hence, this study examines the nursing research landscape in Malaysia. This scoping review was conducted in accordance to the Arksey and O’Malley’s seminal framework utilising three (3) electronic databases (PubMed/MEDLINE, ScienceDirectand CINAHL) for journal articles published between 2010 to 2019. Systematic searches yielded 949 articles for preliminary reviewand after removing duplicates and irrelevant publications, 42 articles were included for final analysis and interpretation. In general, the majority of the reviewed articles were published in the nursing management category (28.6%)and 30.9% were descriptive cross-sectional designs. In addition, the majority of examined articles (97.6%) were written by authors affiliated with the Ministry of Educationand 78.6% of the reviewed articles utilised nursing models or theories as their theoretical framework. Furthermore, the majority of reviewed articles address the improvement of nursing service and recommend prioritising incentives and comfortable work environments, as well as incorporating education on patients’ transitional experiences and increasing the quantity of critically ill patient-related content in nursing curricula. The nursing research landscape in Malaysia is characterised by richness and diversity; however, more research activities on the identified gaps are encouraged. Moreover, given the diversity of research topics and methodologies, nursing research in Malaysia has the potential to make significant contributions to the nursing profession and healthcare in general. Future efforts should focus on updating searches to study research trends across the pre-pandemic, during-pandemic and post-pandemic periods. These studies should also prioritize the inclusion of local journal publications, such as the Malaysian Journal of Nursing, to ensure a comprehensive and detailed examination of the country’s evolving research landscape.
3D facial reconstruction is a technique in forensic science used to create images of unidentified individuals based on skeletal remains, aiding investigations and forming part of forensic anthropology. This technique utilises computer software and anatomical data to create a digital model depicting a likeness of the individual’s face. By employing this technology, forensic investigators can obtain valuable facial characteristics that aid in identification, such as ethnicity, age, and potential distinguishing features. This article will further discuss the development of 2D to 3D facial reconstruction and its working principles. Additionally, the impact of cosmetic surgery on the accuracy of reconstruction will also be explored. Lastly, the challenges and limitations of 3D facial reconstruction will be reviewed.
Satu kajian deskriptif untuk menentukan status penglihatan satu sampel komuniti B40 di Kuala Lumpur dari program komuniti Klinik Optometri Bergerak (KOB), Universiti Kebangsaan Malaysia telah dijalankan pada Jun 2023 selama sehari yang dikendalikan oleh pelajar optometri tahun akhir seramai 35 orang dan diselia oleh optometris bertauliah dan pensyarah optometri Universiti Kebangsaan Malaysia. Sejumlah 167 rekod peserta telah dikumpul dan dianalisa bagi menentukan status penglihatan. Antara dapatan yang menarik ialah 81.4% dari peserta ini tidak pernah ataupun telah lebih dari 3 tahun tidak menjalani sebarang pemeriksaan penglihatan. Seterusnya 37 peserta diberikan cermin mata preskripsi untuk jauh dan dekat. Seramai 11 daripada 17 peserta yang dirujuk ke hospital adalah untuk pemantauan katarak. Hasil dari kajian ini mempamerkan status penglihatan satu sampel populasi penduduk B40 di Kuala Lumpur yang peratusan rabun masih tinggi meskipun terdapat fasiliti kesihatan mata yang berdekatan. Kajian ini memberi indikasi keperluan program saringan penglihatan jangkauan komuniti bagi golongan B40 di Kuala Lumpur.
Emotional intelligence has been related to life satisfaction and academic achievement. These two aspects are identified in some studies with college students, but none with students of Forensic Science. This knowledge is crucial since they are expected to work as forensic scientists, investigators, expert witnesses, or in other forensic science-related roles that need to interact effectively with people. For that, students need to have excellent academic achievement and positive emotions. This study aims to identify (1) the relationship between emotional intelligence and life satisfaction, and (2) the differences between students’ academic achievement in emotional intelligence and life satisfaction. A total of 92 students from the Forensic Science Program at Universiti Sains Malaysia participated in a cross-sectional online survey. The online survey (Google Form) contained some demographic information and standardized psychological questionnaires: the Self-Rated Emotional Malaysian Intelligence Scale (SRMEIS) for measuring emotional intelligence, and the Malay version of the Satisfaction with Life Scale (SWLS) for life satisfaction assessment. The result shows a significant relationship between emotional intelligence and life satisfaction. Three domains of emotional intelligence, i.e., emotional perception and expression, emotional facilitation of thought, and emotional management show a significant relationship with life satisfaction. No significant differences were found between the two academic achievement groups (i.e., excellent and good academic achievements) on emotional intelligence and life satisfaction. Looking at the result, educators can form a comprehensive plan to assist the students in increasing their subjective well-being by implementing ways to improve their emotional intelligence and life satisfaction levels. The study’s findings also help Forensic Science students be more prepared for learning and adapting to the tertiary environment.
This paper explores the correlation between allergic rhinitis (AR) and gut microbiome, emphasizing the role of intestinal microflora in disease progression. The epidemiological characteristics and pathophysiological basis of AR are initially discussed, highlighting its association with the inflammatory response mediated by immunoglobulin E (IgE). In addition, the classification, diagnosis, and standard treatment options for AR are reviewed, including skin prick testing, serum-specific IgE detection, and allergen-specific immunotherapy. The ensuing sections of the paper explore the mechanism and clinical use of probiotics for modulating the intestinal microbiota, bolstering immune function, and alleviating symptoms of allergic rhinitis, as well as providing an overview of relevant clinical research advancements. The discussion explores the interchange between gut flora and the respiratory system, highlighting the attributes and potential therapeutic applications of probiotics in reducing the risk of allergic rhinitis.
The Mandarin Fricative-Affricate (MFA) Nonsense Word Test was developed to assess the speech perception of Malaysian Mandarin-speaking adult clients. However, the language barrier makes it difficult for the audiologists and the audiology students who do not speak Mandarin to administer the test. Therefore, this study aimed to develop and evaluate a training module for the MFA Nonsense Word Test and measure the changes in confidence and perception of audiology students towards administering the MFA Nonsense Word Test. The training module consisted of (1) self-learning using a user manual and seven training videos and (2) practical sessions. This study consisted of two phases: (1) content validation of the user manual, and (2) workshop training. Six audiologists were involved in Phase I. The adapted Suitability Assessment of Materials (SAM) was used to measure the content validation of the user manual. The user manual was proven valid with an excellent content validity index (CVI) of 0.83. Thirty four audiology students participated in Phase II. The questionnaire for assessing the confidence and perception of the participants toward administering the MFA Nonsense Word Test was distributed at three time points: pre-workshop, pre-practical, and post-workshop. The participants were also required to evaluate the face validity of the training videos using the Patient’s Education Materials Assessment Tool (PEMAT). The training videos obtained a high face validity score of 98.7%. Friedman’s Test showed that there were significant changes in confidence [χ2 (2)=51.74, p<0.05] and perception [χ2 (2)=48.59, p<0.05] over the three time points. The finding indicated that the training module has effectively improved the audiology students’ confidence and perception in administering the MFA Nonsense Word Test.
Doctor-patient confidentiality has long been established as a legal and ethical obligation imposed on all doctors and other medical practitioners. This duty, derived from various ethical guidelines, statutes, and English common law, has also been adopted by the Malaysian courts. In essence, it requires medical practitioners to protect patients’ confidential information from unauthorised disclosure to other parties. While maintaining patients’ confidentiality in other clinical settings may be reasonably achieved, the task may be more arduous in an Accident & Emergency department. The unique situation of an Accident & Emergencxy department such as overcrowding,limited space, and demands from patients’ family and friends may pose some hurdles for healthcare practitioners in fulfilling this duty. This paper addresses the overarching issue by first establishing the legal and ethical basis for doctor-patient confidentiality in Malaysia. The challenges of preserving patient confidentiality in Accident & Emergency departments are then analysed, along with whether any exceptions provided by law or guidelines can be applied in these situations. Finally, this paper concludes by providing recommendations and tips for doctors and other healthcare workers in Accident & Emergency departments to ensure that patient confidentiality is not violated.
Diabetes and periodontitis are both highly prevalent diseases in Malaysia, with a strong bidirectional relationship. Therefore, encouraging shared care management is essential to ensure patients benefit from controlling both conditions. Our study aimed to investigate general dental practitioners' perceptions and current practices regarding the shared care management of periodontitis and diabetes using a questionnaire. We developed an evidence-based questionnaire through a systematic literature search and pre-tested it on 30 dental practitioners in a public university. Three databases (Scopus, Web of Science, and Ovid MEDLINE), were used to access the available literature. All eligible articles were screened for duplicates and relevance, selecting those with questionnaires. The most relevant questions were chosen and organised thematically. The final section of the questionnaire included a validation sheet, where clinicians reviewed the questions and suggested potential improvements. Seven key aspects were assessed: clarity and directions of items, presentation and organisation of items, suitability of items, adequacy of the content, attainment of purpose/objective, and scale and evaluation rating. All aspects were deemed 'satisfactory' by the clinicians. The clinicians recommended the questionnaire, offering a few suggestions for improvement. More than 95% of the clinicians evaluated the questionnaire as satisfactory, concluding it was valid. Suggested improvements were implemented, such as bolding or italicising the instructions, changing the selection format of questions, and adjusting the direction of options for two questions. A final questionnaire was developed for future research on dental practitioners' knowledge and perceptions regarding the bidirectional relationship and management of diabetes and periodontitis.
The genus Etlingera belongs to the family Zingiberaceae (Ginger family), comprising more than 100 species, which possess a substantial medicinal value. Their role in drug discovery is significant due to their bioactive compounds, including antioxidants, anti-inflammatory, antimicrobials, and anticancer. Research on this genus is primarily limited to in vitro and in vivo studies. Thus, there is a significant gap in the research in pharmacology and drug development. This analysis aimed to explore the trends of worldwide publications on the genus Etlingera until 2023. Data collection was performed by a literature search of the word ‘Etlingera’ based on title, abstract, and keywords. We retrieved 329 articles from the Scopus database, which were limited to research articles published in English. We used Harzing’s Publish and Perish software for citation metrics and analysis, and VOSviewer for data visualization. This data distribution in terms of the growth of publications, research areas, countries, organizations, top-cited articles, collaboration, and keywords were reported in this study. There was an increasing trend of publications on the genus Etlingera research after 2018, with Malaysia as the leading country. The top research area was ‘Agricultural and Biological Sciences’, and the most cited article was related to the methods of drying processes that best preserve or boost antioxidant levels. This bibliometric analysis highlights the pharmacological potential of the Etlingera plant, serving as a bridge between traditional and modern medicine. It also provides comprehensive data on the genus Etlingera research that may contribute valuable knowledge and suggest directions for future research.
This study investigated the current status of depressive symptoms among Chinese college students and analyzed the association between being an only child and depressive symptoms. A cross-sectional survey was conducted with 771 college students from five universities in Jilin Province. Depressive symptoms were assessed using the Center for Epidemiological Studies Depression Scale (CES-D). The results indicated that 28.4% of college students exhibited depressive symptoms. Only children reported significantly higher depressive symptom scores compared to non-only children, and female students had higher scores than their male counterparts. These findings highlight the importance of targeted mental health interventions for only children.
Psychosis can be defined as individual’s experience of hallucination or delusions or both. It is regarded as one of the most challenging psychological illnesses to handle within the clinical walls. As of now, three main lines of treatment interventions (i.e. pharmacological treatment, cognitive behavioural therapy, and social cognitive Training) were deemed as having mixed findings or having questionable efficacy. This led to researchers in trying to find other means of psychological constructs to be incorporated into therapeutic interventions for people with Psychosis. Two of the proposed constructs were Metacognition (i.e. thinking about thinking) and Inner Speech (i.e. the internal experience of auditory language without the need to use covert language). This scoping review attempts to provide an overview on the extent of research that has been done relating to these three concepts (i.e. Metacognition, Inner Speech and Psychosis). Furthermore, this scoping review also attempts to identify any gaps in the literature that could aid and inform the direction of future research within this area of interest. The scoping review was done according to five-stage framework introduced by Arksey and O’Malley (2005). Results showed there seemed to be several theories being proposed from both field of Metacognition and Inner Speech in trying to explain Psychosis. However, these theories were not only contradictory to one another but also only rely on philosophical and psychological theories as there were no further scientific research done in trying to back up its claim. Further discussion and implication were presented in this article.
Rheumatoid arthritis (RA) pain is a debilitating symptom often persisting despite reduced inflammation, possibly due to dysregulated pain pathways. The study aimed to determine the effects of CORM-2 and Ifenprodil on nociceptive mechanisms involving NMDAR-2B and BDNF in thalamus of chronic polyarthritis rat mimicking RA. Eighty rats were randomly assigned into five groups: non-arthritic(N), arthritic control(A), arthritic groups treated with either CORM-2 (A+CORM-2), Ifenprodil (A+Ifenprodil), or Diclofenac (A+Diclofenac). Chronic polyarthritis was induced by injecting complete Freund’s adjuvant (10mg/mL) in right footpad of the rats and intrathecal treatments were given for 7 days (Day-15 to Day-22). Pain behaviour tests evaluating tactile allodynia and thermal hyperalgesia development were conducted on Day-0 (baseline), Day-14 (pre-treatment), and Day-23 (post-treatment). Thalamus was collected for further molecular analyses. There was significant development of tactile allodynia and thermal hyperalgesia detected in arthritic rats (p<0.05) which were significantly reversed by CORM-2 and Ifenprodil treatments (p<0.05). Significant upregulation of mRNA level with increased BDNF and NMDAR-2B protein expression was detected in bilateral thalamic VPL regions (p<0.05). These proteins expression and mRNA levels were significantly reduced and downregulated with the treatments of CORM-2 and Ifenprodil (p<0.05).CORM-2 and Ifenprodil exert anti-nociceptive effects possibly by modulating thalamic nociceptive mechanisms through NMDAR-2B/BDNF signalling inhibition in chronic polyarthritis rat. This study provides insights into understanding possible mechanisms leading to RA pain for future therapeutic development and chronic pain management.
Dunia kosmetik sekarang berubah fokus kepada produk penjagaan kulit yang menggunakan ekstrak semulajadi seperti biji halba. Tujuan kajian ini adalah untuk merumuskan krim kulit kosmeseutikal bersifat antioksidan dengan menggunakan minyak pati biji halba (Trigonella foenum-graecum) dan seterusnya menilai pelbagai ciri fisiokimianya termasuk ujian pemusnahan radikal bebas, penilaian organoleptik, pencirian fizikal, ujian kestabilan dan ujian biokeselamatan. Kepekatan minyak pati 300μL/mL menunjukkan aktiviti antioksidan yang paling tinggi secara signifikan pada 9.58% dan formulasi krim kulit dirumuskan menggunakan emulsi minyak dalam air dengan peratusan minyak pati yang berbeza (3%, 5% dan 10%). Ujian pemusnahan radikal juga dijalankan atas formulasi krim kepekatan minyak pati 3% dan ianya menunjukkan aktiviti antioksidan tertinggi yang signifikan (p<0.05) pada 87% serta mempamerkan sifat organoleptik yang memuaskan dengan pH 4.55. Ujian kestabilan semua formulasi telah dijalankan selama 90 hari dan hasilnya menunjukkan bahawa formulasi yang disimpan pada suhu bilik, mempamerkan nilai pH dan kebolehsebaran yang lebih baik berbanding formulasi yang disimpan pada 4°C. Formulasi krim juga diuji dengan ujian saringan biokeselamatan in vitro hemolisis yang menunjukkan ketiadaan perengsa dan bahan toksik dalam krim yang dirumuskan. Ujian sensitiviti kulit semua formulasi krim terhadap sukarelawan melaporkan tiada reaksi kulit. Hasil kajian menunjukkan minyak pati biji halba mempunyai sifat antioksidan yang tinggi dan boleh diformulasikan dalam bentuk krim kulit kosmeseutikal yang selamat. Walau bagaimanapun, ujian tambahan kosmeseutikal dan dermatologi diperlukan untuk penilaian lanjut manfaat krim yang dirumuskan.
Kemunculan teknologi penyuntingan genom, terutamanya CRISPR/Cas9, telah mengubah dan merevolusikan landskap bidang genetik dan biologi molekul dengan begitu drastik. Sistem CRISPR/Cas9 diadaptasi daripada sistem adaptasi imuniti bakteria, menggunakan enzim Cas9 yang dipandu oleh sgRNA untuk penyingkiran gen atau penyuntingan genom secara jitu. Walau bagaimanapun, cabaran seperti kesan luar sasaran (off-target effects) telah mendorong pembangunan beberapa varian Cas9 seperti dCas9. dCas9 diubah suai untuk tidak memiliki sebarang aktiviti endonuklease dan kini dCas9 telah digunakan untuk pelbagai aplikasi yang melangkaui fungsi tradisional CRISPR/Cas9 sebagai kaedah pengeditan genom. Selain itu, teknologi terkini prime editing telah menggabungkan enzim Cas9 yang diubahsuai bersama reverse transcriptase untuk meningkatkan lagi tahap keberkesanan penyuntingan genom secara jitu. Walaupun wujud kerisauan terhadap pertimbangan etika dan kebimbangan terkait keselamatan, namun teknologi ini menjanjikan dampak yang besar di dalam menangani penyakit genetik serta aplikasi dalam bidang precision medicine. Memahami dan mengoptimumkan potensi CRISPR/Cas9 dan teknologi prime editing menandakan bermula era baharu dalam bidang penyelidikan berkaitan biologi dan perubatan, dan seterusnya menyediakan satu platform untuk penyuntingan genom yang tepat dan pengawalseliaan proses transkripsi gen.
Mobile applications (apps) for type 2 diabetes mellitus (T2DM) management are gaining global attention. These apps have been reported to facilitate better clinical outcomes and patient adherence. However, the specific features that contribute to improvements in T2DM management remain unclear. This study aims to analyze prevalent features in commercially available T2DM apps and identify limitations and areas for future development. A scoping review was conducted on literature published from June 2012 to May 2023. Databases such as Ovid, PubMed, and Scopus were extensively searched. The study adhered to PRISMA-Scr guidelines for reporting scoping reviews. Study inclusion and exclusion criteria were based on the PCC framework. The primary outcome was identifying patterns in app features. Fourteen review papers, covering over 900 diabetes management apps, were included in the analysis. The most common features were self-monitoring of blood glucose, blood pressure, and body weight. However, significant limitations were noted, including the lack of automatic data entry, medication management tracking, psychological support, and comprehensive disease education. Concerns about health data security and privacy were found to contribute to patient hesitancy in adopting these apps. This review highlights several essential features and limitations of diabetes management apps. Future app development should prioritize enhancing patient motivation and incorporating heuristic design principles like instructional videos and help features. Collaboration between healthcare providers, policymakers, and app developers is crucial to improving the quality, usability, and engagement of T2DM apps.
National Health and Morbidity Survey (NHMS, 2019) mendapati bahawa satu daripada setiap lima kanak-kanak di Malaysia mengalami masalah terbantut yang melibatkan 560,000 kanak- kanak iaitu sebanyak 20.7%. Data ini menunjukkan bahawa masalah terbantut dalam kanak- kanak terbantut di bawah lima tahun pada tahap yang serius dan masalah malnutrisi di Malaysia amat membimbangkan. Objektif kajian ialah meneroka faktor kanak-kanak terbantut dan budaya kemiskinan dalam keluarga kanak-kanak terbantut di Putrajaya, Selangor. Rekabentuk kualitatif iaitu temu bual separa berstruktur secara bertulis. Sepuluh informan telah dipilih untuk ini kajian menggunakan teknik persampelan bertujuan. Lokasi di negeri Selangor telah dipilih iaitu di daerah Putrajaya dengan menggunakan persampelan bertujuan. Data temu bual tidak berstruktur dianalisis menggunakan teknik analisis tematik. Hasil kajian mendapati majoriti keluarga kanak-kanak terbantut tidak terdedah kepada program alternatif khas terutamanya untuk kanak-kanak terbantut. Program yang dicadangkan kepada keluarga kanak-kanak terbantut ialah memperbanyakkan lagi aktiviti dan program serta bantuan yang diperlukan bagi memenuhi keperluan kanak-kanak terbantut untuk menjalani kehidupan normal seperti kanak-kanak lain. Bukan itu sahaja, program yang dihasilkan juga patut mempunyai kriteria membimbing penduduk tempatan bagi mencegah masalah kanak-kanak terbantut ini. Implikasi kajian ialah mengadakan program kesedaran menyeluruh bagi setiap pihak termasuk jugak pihak pekerja sosial supaya mampu membantu keluarga kanak-kanak terbantut di Putrajaya.
Hiperkolesterolemia Familial (FH) adalah penyakit metabolisme lipoprotein yang menyebabkan peningkatan paras lipoprotein berketumpatan rendah (LDL-C) dalam darah sejak lahir. FH diwarisi secara autosomal dominan melalui mutasi gen LDLR, APOB dan PCSK9 manakala mutasi gen LDLRAP1 dikaitkan dengan autosomal resesif. Diagnosis FH secara klinikal bergantung kepada kehadiran simptom klinikal seperti arkus kornea, tendon xanthoma serta paras LDL-C dan kolesterol keseluruhan (TC) yang tinggi di samping sejarah keluarga dengan infarksi miokardium (MI) dan hiperkolesterolemia. Kadar keterukan penyakit ini bergantung kepada jenis mutasi genetik dengan pesakit homozigus cenderung mengalami gejala yang lebih teruk. FH juga meningkatkan risiko penyakit jantung akibat pembentukan aterosklerosis yang disebabkan oleh paras LDL-C yang tinggi. Kaedah: Kajian ini melibatkan tiga individu yang didiagnosis dengan hiperkolesterolemia dan dua daripada mereka menghidap penyakit jantung pada usia muda. DNA sampel darah diekstrak menggunakan teknik isolasi garam dan analisis genetik dilakukan dengan menggunakan reaksi rantaian polimerase (PCR) untuk mengamplifikasi ekson gen LDLR. Penjujukan DNA dilakukan menggunakan teknik penjujukan Sanger dan analisis dilakukan menggunakan perisian Snap Gene Viewer dan SeqScape v2.0. Analisis in silico dilakukan untuk meramal fungsi varian sinonimus dan pemodelan struktur protein LDLR dilakukan untuk mengenal pasti perubahan yang mungkin berlaku akibat mutasi. Keputusan: Pesakit pertama menunjukkan tiga varian sinonimus (c.A1413G, c.C1617T, dan c.A2232G) pada gen LDLR. Pesakit kedua menunjukkan varian c.A1413G dan c.A2253G manakala pesakit ketiga mempunyai mutasi penghapusan c.660_del C (Asp221fs). Kesimpulan: Kajian ini telah mengenal pasti empat varian sinonim dan satu mutasi penghapusan. Varian sinonim diklasifikasikan sebagai benign manakala mutasi penghapusan diklasifikasikan sebagai patogenik dikaitkan dengan FH. Oleh itu, pemeriksaan profil lipid berpuasa dan saringan genetik adalah penting bagi semua ahli keluarga pesakit untuk mengenal pasti risiko dan mengambil langkah intervensi awal.
