Noorhida Baharudin

Herpes zoster (HZ) or shingles is uncommon in children and is traditionally associated with advancing age and immunocompromised states. However, HZ may also occur in immunocompetent children, in whom diagnosis may be overlooked due to its rarity and broad differential diagnosis of pediatric vesicular eruptions. We report the case of an immunocompetent 11-year-old boy with a previous history of natural varicella infection who presented to a primary care clinic with a painful unilateral vesicular rash over the T5–T6 dermatomes. The rash developed 1 week after an influenza-like illness following close contact with a classmate with laboratory-confirmed influenza. A clinical diagnosis of HZ was made based on the characteristic unilateral dermatomal distribution of the rash. The patient was treated with oral acyclovir on day 3 of the rashes onset and recovered completely within 1 week without complications such as secondary infections or postherpetic neuralgia. This case highlights that HZ should be considered in the differential diagnosis of a unilateral dermatomal vesicular rash in children, even in the absence of recognized risk factors such as immunodeficiency. The close temporal association with the preceding influenza-like illness raises the possibility that transient post-viral immune dysregulation may have contributed to the varicella zoster virus reactivation. Although the causality cannot be established from a single case, this observation generates hypothesis that warrants further investigation in future studies. Early clinical recognition and prompt antiviral therapy in the primary care setting may facilitate recovery and contribute to favorable clinical outcomes.

The 2019 European Society of Cardiology (ESC) guideline introduced a pre-test probability (PTP) tool to estimate the likelihood of obstructive coronary artery disease (CAD). Its performance has not been validated in the Malaysian population. This study aimed to validate this tool in this setting. A cross-sectional study was conducted from June 2023 to May 2024. PTP scores were calculated using the 2019 ESC-PTP tool and stratified as low (≤ 5%), moderate (> 5%–15%), and high (> 15%) risk. For diagnostic accuracy analysis, low scores were considered negative, while moderate-to-high scores were grouped as positive tests. Reference standards were ≥ 50% luminal stenosis on invasive coronary angiography (ICA), or a Coronary Artery Disease Reporting and Data System (CAD-RADS) 2.0 score of ≥ 3 on coronary computed tomography angiography (CCTA). Diagnostic performance was evaluated using sensitivity, specificity, positive and negative predictive values (PPV, NPV), likelihood ratios (PLR, NLR), area under the receiver operating characteristic curve (AUC), and overall diagnostic accuracy. Among 194 participants, 110 (56.7%) had obstructive CAD. The 2019 ESC-PTP tool demonstrated sensitivity of 95.5% (95% CI: 90.5–98.3) and specificity of 25.0% (95% CI: 16.6–34.9). PPV was 62.5% (95% CI: 55.0–69.6), NPV 80.8% (95% CI: 63.1–92.6), PLR 1.27 (95% CI: 1.11–1.45) and NLR 0.18 (95% CI: 0.07–0.46). The AUC was 0.794 (95% CI: 0.732–0.857) with an overall accuracy of 64.9% (95% CI: 58.2–71.7). The 2019 ESC-PTP tool demonstrates high sensitivity, making it reliable for excluding obstructive CAD in low-risk patients. Its limited specificity restricts its role in confirming disease, highlighting the need for further testing in moderate-to-high risk groups.

Umbilical discharge in adults is a rare presentation in primary care and is frequently misdiagnosed as superficial infections, umbilical dermatitis, or abscesses, particularly in individuals with known predisposing factors such as obesity, poor hygiene, or diabetes mellitus. However, in the absence of these risk factors, the possibility of underlying congenital anomalies such as a patent urachus should be considered, as prompt recognition and diagnosis are paramount to prevent complications such as recurrent infections, abscess formation, and even malignant transformation. We report the case of a 29-year-old healthy male who presented to a primary care clinic with a 5-day history of purulent umbilical discharge and abdominal pain without associated fever or systemic symptoms. Physical examination revealed mild periumbilical erythema and purulent discharge but no palpable mass. The absence of typical risk factors for superficial infection raised clinical suspicion of an underlying pathology. Early diagnostic workup with ultrasound revealed a hypoechoic collection within the subcutaneous tissues, and subsequent contrast-enhanced computed tomography (CT) confirmed an infected umbilical urachal sinus. The patient was promptly referred to a surgical team for inpatient management. He was commenced on intravenous amoxicillin-clavulanic acid and underwent an incision and drainage for the infected umbilical urachal sinus. He made an uneventful recovery and was arranged for an elective laparoscopic excision of the urachal remnant. This case highlights several important learning points. In adults, urachal anomalies are rare and frequently misdiagnosed as superficial infections or abscesses, especially in the context of comorbidities such as diabetes and obesity. This case highlights the importance of maintaining a broad differential diagnosis, including rare congenital conditions such as a patent urachal sinus, when assessing adults presenting with umbilical discharge. It also illustrates the critical role of primary care providers in recognizing uncommon conditions, as timely recognition and diagnosis are essential for the effective management of this rare but potentially serious condition.

Introduction: Diabetes-related distress (DRD) affects disease control and quality of life. This study aimed to determine the prevalence of high-level DRD, compare the prevalence according to diabetes complications and identify the associated sociodemographic and clinical factors. Methods: This cross-sectional study included 198 participants from three primary care clinics in northern Malaysia from 1 May 2023 to 31 July 2023. DRD was measured using the 17-Item Diabetes Distress Scale, with a score of ≥3 indicating high-level distress. Multiple logistic regression was used to assess the association between the sociodemographic and clinical characteristics and DRD. Results: The prevalence of high-level DRD was 13.6%. The prevalence was significantly higher among the patients without nephropathy (17.2%) than among those with nephropathy (3.8%) (P=0.014) but did not significantly differ among those with other complications. Those who attended the clinics independently were less likely to be highly distressed than those using public transportation or sent by others (adjusted odds ratio [aOR]=0.31, 95% confidence interval [CI]=0.10–0.99, P=0.048). The participants who were obese (aOR=2.96, 95% CI=1.08–8.08, P=0.034) had higher odds of having high-level DRD than those who were not, while those who had nephropathy (aOR=0.11, 95% CI=0.02–0.58, P=0.010) had lower odds of having high-level DRD than those who did not. Conclusion: The overall prevalence of high-level DRD is relatively low but significantly higher among individuals without nephropathy. Obesity, lack of transportation and the absence of nephropathy are positively associated with high-level DRD and should therefore be a focus of psychological support and intervention.

Background: Previous literature has demonstrated associations between grit and positive educational and psychological outcomes, such as higher academic grades, lower attrition rates in medical training, and protection from burnout. However, the predictors of grit have yet to be studied, particularly among medical students in Malaysia. This study aimed to determine the level of grit and its predictors among Malaysian medical students. Methods: A cross-sectional study was conducted among 123 medical students from a public university in Malaysia. Data on sociodemographic and educational characteristics were collected. The student’s personality traits were determined using the Big Five Inventory (BFI), while grit was assessed using the validated 7-item Short Grit Scale (Grit-S). Grit was expressed as a mean score, ranging from 1 (not at all gritty) to 5 (extremely gritty). Multiple linear regression was used to determine the association between the predictors (personality, sociodemographic and educational characteristics) and grit among these students. Results: The mean grit score was 3.43 (SD 0.57). Based on the multiple linear regression analysis, the grit score was significantly predicted by three personality traits which were extraversion, b = 0.2 (95% CI: 0.07–0.32), agreeableness, b = 0.28 (95% CI: 0.12–0.44) and conscientiousness, b = 0.6 (95% CI: 0.42–0.77). A 1-point increase in the mean extraversion, agreeableness, and conscientiousness scores would independently increase these students’ mean grit scores by 0.2, 0.28, and 0.6, respectively. The sociodemographic and educational characteristics did not significantly predict grit among Malaysian medical students. Conclusions: The mean grit score among Malaysian medical students is comparable to other medical students in Asia. Extraversion, agreeableness, and conscientiousness personality traits were associated with higher grit. As grit is a dynamic trait, appropriate interventions should be implemented to foster and increase it among these students.

Familial Hypercholesterolemia (FH) is an autosomal dominant genetic condition predominantly caused by the low-density lipoprotein receptor (LDLR) gene mutation. This is the case of a 54-year-old Malay woman with genetically confirmed FH complicated by premature coronary artery disease (PCAD). She was clinically diagnosed in primary care at 52 years old, fulfilling the Simon Broome Criteria (possible FH), Dutch Lipid Clinic Criteria (score of 8: probable FH) and Familial Hypercholesterolemia Case Ascertainment Tool (FAMCAT relative risk score of 9.51). Subsequently, she was confirmed to have a heterozygous LDLR c.190+4A>T intron 2 pathogenic variant at the age of 53 years. She was known to have hypercholesterolemia and was treated with statin since the age of 25. However, the lipid-lowering agent was not intensified to achieve the recommended treatment target. The delayed FH diagnosis has caused this patient to have PCAD and percutaneous coronary intervention (PCI) at the age of 29 years and a second PCI at the age of 49 years. She also has a very strong family history of hypercholesterolemia and PCAD, where seven out of eight of her siblings were affected. Despite this, FH was not diagnosed early and cascade screening of family members was not conducted, resulting in a missed opportunity to prevent PCAD. FH can be clinically diagnosed in primary care to identify those who may require genetic testing. Multidisciplinary care focuses on improving identification, cascade screening and management of FH is vital to improving prognosis and ultimately preventing PCAD.

Background: Familial hypercholesterolemia (FH) is predominantly caused by mutations in the 4 FH candidate genes (FHCGs), namely, low-density lipoprotein receptor (LDLR), apolipoprotein B-100 (APOB-100), proprotein convertase subtilisin/kexin type 9 (PCSK9), and the LDL receptor adaptor protein 1 (LDLRAP1). It is characterized by elevated low-density lipoprotein cholesterol (LDL-c) levels leading to premature coronary artery disease. FH can be clinically diagnosed using established clinical criteria, namely, Simon Broome (SB) and Dutch Lipid Clinic Criteria (DLCC), and can be identified using the Familial Hypercholesterolemia Case Ascertainment Tool (FAMCAT), a primary care screening tool. Objective: This study aims to (1) compare the detection rate of genetically confirmed FH and diagnostic accuracy between the FAMCAT, SB, and DLCC in the Malaysian primary care setting; (2) identify the genetic mutation profiles, including novel variants, in individuals with suspected FH in primary care; (3) explore the experience, concern, and expectation of individuals with suspected FH who have undergone genetic testing in primary care; and (4) evaluate the clinical utility of a web-based FH Identification Tool that includes the FAMCAT, SB, and DLCC in the Malaysian primary care setting. Methods: This is a mixed methods evaluation study conducted in 11 Ministry of Health primary care clinics located at the central administrative region of Malaysia. In Work stream 1, the diagnostic accuracy study design is used to compare the detection rate and diagnostic accuracy of the FAMCAT, SB, and DLCC against molecular diagnosis as the gold standard. In Work stream 2, the targeted next-generation sequencing of the 4 FHCGs is used to identify the genetic mutation profiles among individuals with suspected FH. In Work stream 3a, a qualitative semistructured interview methodology is used to explore the experience, concern, and expectation of individuals with suspected FH who have undergone genetic testing. Lastly, in Work stream 3b, a qualitative real-time observation of primary care physicians using the “think-aloud” methodology is applied to evaluate the clinical utility of a web-based FH Identification Tool. Results: The recruitment for Work stream 1, and blood sampling and genetic analysis for Work stream 2 were completed in February 2023. Data collection for Work stream 3 was completed in March 2023. Data analysis for Work streams 1, 2, 3a, and 3b is projected to be completed by June 2023, with the results of this study anticipated to be published by December 2023. Conclusions: This study will provide evidence on which clinical diagnostic criterion is the best to detect FH in the Malaysian primary care setting. The full spectrum of genetic mutations in the FHCGs including novel pathogenic variants will be identified. Patients’ perspectives while undergoing genetic testing and the primary care physicians experience in utilizing the web-based tool will be established. These findings will have tremendous impact on the management of patients with FH in primary care and subsequently reduce their risk of premature coronary artery disease. International Registered Report Identifier (IRRID): DERR1-10.2196/47911

BACKGROUND Familial hypercholesterolemia (FH) is predominantly caused by mutations in the 4 FH candidate genes (FHCGs), namely, low-density lipoprotein receptor (LDLR), apolipoprotein B-100 (APOB-100), proprotein convertase subtilisin/kexin type 9 (PCSK9), and the LDL receptor adaptor protein 1 (LDLRAP1). It is characterized by elevated low-density lipoprotein cholesterol (LDL-c) levels leading to premature coronary artery disease. FH can be clinically diagnosed using established clinical criteria, namely, Simon Broome (SB) and Dutch Lipid Clinic Criteria (DLCC), and can be identified using the Familial Hypercholesterolemia Case Ascertainment Tool (FAMCAT), a primary care screening tool. OBJECTIVE This study aims to (1) compare the detection rate of genetically confirmed FH and diagnostic accuracy between the FAMCAT, SB, and DLCC in the Malaysian primary care setting; (2) identify the genetic mutation profiles, including novel variants, in individuals with suspected FH in primary care; (3) explore the experience, concern, and expectation of individuals with suspected FH who have undergone genetic testing in primary care; and (4) evaluate the clinical utility of a web-based FH Identification Tool that includes the FAMCAT, SB, and DLCC in the Malaysian primary care setting. METHODS This is a mixed methods evaluation study conducted in 11 Ministry of Health primary care clinics located at the central administrative region of Malaysia. In Work stream 1, the diagnostic accuracy study design is used to compare the detection rate and diagnostic accuracy of the FAMCAT, SB, and DLCC against molecular diagnosis as the gold standard. In Work stream 2, the targeted next-generation sequencing of the 4 FHCGs is used to identify the genetic mutation profiles among individuals with suspected FH. In Work stream 3a, a qualitative semistructured interview methodology is used to explore the experience, concern, and expectation of individuals with suspected FH who have undergone genetic testing. Lastly, in Work stream 3b, a qualitative real-time observation of primary care physicians using the “think-aloud” methodology is applied to evaluate the clinical utility of a web-based FH Identification Tool. RESULTS The recruitment for Work stream 1, and blood sampling and genetic analysis for Work stream 2 were completed in February 2023. Data collection for Work stream 3 was completed in March 2023. Data analysis for Work streams 1, 2, 3a, and 3b is projected to be completed by June 2023, with the results of this study anticipated to be published by December 2023. CONCLUSIONS This study will provide evidence on which clinical diagnostic criterion is the best to detect FH in the Malaysian primary care setting. The full spectrum of genetic mutations in the FHCGs including novel pathogenic variants will be identified. Patients’ perspectives while undergoing genetic testing and the primary care physicians experience in utilizing the web-based tool will be established. These findings will have tremendous impact on the management of patients with FH in primary care and subsequently reduce their risk of premature coronary artery disease. INTERNATIONAL REGISTERED REPORT DERR1-10.2196/47911

Introduction: Cardiovascular diseases (CVD) remain the world’s leading cause of death. About half of Malaysian adults have at least 2 risk factors; thus, rigorous primary preventions are crucial to prevent the first cardiovascular (CV) event. This study aimed to determine the achievement of treatment targets and factors associated with it among high CV risk individuals. Methods: This cross-sectional study included 390 participants from a primary care clinic in Selangor, Malaysia, between February and June 2022. The inclusion criteria were high-CV risk individuals, that is, Framingham risk score >20%, diabetes without target organ damage, stage 3 kidney disease, and very high levels of low-density lipoprotein cholesterol (LDL-C) >4.9 mmol/L or blood pressure (BP) >180/110 mmHg. Individuals with existing CVD were excluded. The treatment targets were BP <140/90 mmHg (≤135/75 for diabetics), LDL-C <2.6 mmol/L, and HbA1c ≤6.5%. Multiple logistic regressions determined the association between sociodemographic, clinical characteristics, health literacy, and medication adherence with the achievements of each target. Results: About 7.2% achieved all treatment targets. Of these, 35.1% reached systolic and diastolic (46.7%) BP targets. About 60.2% and 28.2% achieved optimal LDL-C and HbA1c, respectively. Working participants had lower odds of having optimal systolic (aOR = 0.34, 95% CI: 0.13-0.90) and diastolic (aOR = 0.41, 95% CI: 0.17-0.96) BP. Those who adhered to treatments were more likely to achieve LDL-C and HbA1c targets; (aOR = 1.72, 95% CI: 1.10-2.69) and (aOR = 2.46, 95% CI: 1.25-4.83), respectively. Conclusions: The control of risk factors among high CV risk patients in this study was suboptimal. Urgent measures such as improving medication adherence are warranted.