Malaysian Journal of Pathology最新文献

Primary aldosteronism (PA) is a common cause of secondary hypertension characterised by autonomous aldosterone hypersecretion independent of the renin-angiotensin-aldosterone system. Somatic mutations in KCNJ5, CACNA1D, ATP1A1, ATP2B3, and CTNNB1 are commonly linked to aldosterone overproduction in unilateral aldosterone-producing adenomas (APAs). Interestingly, KCNJ5 mutations have been reported to be more frequent in APAs from Asian PA patients (60-70%) compared to Western PA patients (30-40%). However, a previous study done at a university hospital in Malaysia found a lower prevalence of KCNJ5 mutations (31.5%) in 54 APAs, aligning with Western data. Herein, this study aimed to verify KCNJ5 mutation prevalence in Malaysian PA patients treated at a government hospital. Adrenal samples (n=99) from adrenalectomies performed at Hospital Putrajaya (2010-2020) were analyzed. Using CYP11B2 immunohistochemistry (IHC), 85 APAs were identified, and DNA sequencing was performed for known aldosterone-driver KCNJ5 mutations. Patients' demographics were compared across genotypes using chi-square test. Among the 85 APAs, 42 (49.4%) harboured a KCNJ5 mutation: G151R (25.9%), L168R (18.8%), and T158A/E145Q (2.4%). Mutant APAs were more frequent in females (69%), similarly for wild-type APAs (56%). Significant female gender bias for mutation was seen with Malay patients (p=0.049). No association between age at adrenalectomy and mutation status was found. One KCNJ5-mutant APA with aldosterone-producing diffused ZG hyperplasia also harboured a mutation in CACNA1H R1253H. In conclusion, this study supports a lower prevalence of KCNJ5 mutations in Malaysian PA patients (<50%) compared to other Asian cohorts (>50%) consistent with prior Malaysian data, and suggest that co-existing aldosterone-driver mutations with KCNJ5 may occur.

Background: Rotavirus is one of the most common etiological agents that can cause gastroenteritis in young children in many countries worldwide, including Malaysia. The objective of the study was to determine the clinical and laboratory features of acute rotavirus gastroenteritis in children aged less than 5 years.

Materials and methods: This retrospective study involved paediatric patients warded in a tertiary medical centre in Kuala Lumpur for acute gastroenteritis from 2015 to 2022. Data for these children were obtained from the hospital's electronic medical records and online laboratory management system.

Results: Out of a total of 177 patients, 30.5% (54/177) were diagnosed with rotavirus gastroenteritis (RG) and 69.5% (123/177) with non-rotavirus gastroenteritis (NRG). Children with RG were more likely to have vomiting compared to those with NRG (85.2% vs. 68.3%; p=0.026). Dehydration was also significantly associated with RG (64.8% vs. 43.9%; p=0.014). However, RG was less likely to be associated with fever (57.4% vs. 76.4%; p=0.013) and convulsions (0.0% vs. 8.1%; p=0.033). The blood C-reactive protein (CRP) mean and SD in RG were lower (0.86 ± 0.81 vs. 4.26 ± 2.71 mg/L; p=0.001), while the serum urea mean and SD in RG were higher (4.94 ± 3.05 vs. 3.87 ± 2.22 mmol/L; p=0.009).

Conclusion: Despite shared features, RG can be distinguished from NRG based on the presence or absence of vomiting, dehydration, fever and convulsions, as well as the extent of elevation in the serum urea and blood CRP levels.

Currently, digital pathology is a profound transformation in the field of pathology. Numerous artificial intelligence (AI) algorithms have demonstrated significant potential for the improvement of diagnostic efficiency, morphometric analysis of biomarkers, and diagnostic screening. However, the application of AI in pathology is a matter of considerable worry among pathologists. Within this article, we provided a concise overview of the process of digital pathology and deep learning in diagnostic pathology. Additionally, we explored the advantages and uses, obstacles and constraints, and future potential of artificial intelligence in diagnostic pathology. The implementation of innovative AI-based methods in pathology laboratory processes will enhance the effectiveness of disease diagnosis, as the collaboration between pathologists and AI systems has demonstrated superior performance compared to both the individual pathologist and the system. Nevertheless, pathologists continue to be crucial in the finalisation of the diagnosis.

Introduction: Homicide is the deliberate act of causing death or injury, leading to the unlawful demise of an individual, with 464,000 homicide cases worldwide in 2017. In Malaysia, there is a lack of information on homicidal statistics and patterns, with most studies focusing on medicolegal autopsy practices. This research aims to study demography and fatal injury patterns.

Materials and methods: This study is a retrospective analysis of homicidal deaths occurring in the Forensic Unit of Hospital Canselor Tuanku Muhriz from 2009 to 2018. A descriptive analysis was conducted to outline the patterns of homicidal injury and the sociodemographic characteristics of the cases.

Results: The findings identified 138 homicidal death cases out of 3468 total autopsied cases. The prevalence of homicides has been decreasing for the past ten years. The male, Chinese and young adults led the number of homicide cases and immigrants account for almost half of the total cases. Most of the homicidal cases were involved with the sharp injury. The head is the most common site for fatal injuries in homicide cases, with blunt and firearm injuries being the most common pattern of injury inflicted by the assailant. Less common sites include the back and extremities.

Conclusion: This study can provide insights and understanding into homicide within the sociodemographic framework and pattern of injury in homicidal death in Malaysia.

Introduction: To determine the epidemiology of blood culture-positive late-onset sepsis (LOS, >72 hours of age) in 44 Malaysian neonatal intensive care units (NICUs).

Materials and methods: Study Design: Multicentre retrospective observational study using data from the Malaysian National Neonatal Registry.

Participants: 739486 neonates (birthweight ≥500g, gestation ≥22 weeks) born and admitted in 2015-2020.

Results: LOS developed in 2707 (0.4%) neonates. Median annual incidence (per 100 admissions) was 12.0 (range: 8.1-13.8) in extremely preterm (EPT, gestation <28 weeks), 5.3 (range: 5.0-6.8) in very preterm (VPT, gestation 28-<32 weeks), 0.5 (range: 0.4-0.7) in moderate/late preterm (gestation 32-<37 weeks) and 0.1 in term (gestation ≥37 weeks) neonates. Gram-negative bacteria accounted for 54.7% of pathogens isolated, gram-positive bacteria 39.3%, and fungal and other pathogens 6.0%. The six most common pathogens were coagulase-negative Staphylococcus (18.3%), Klebsiella spp. (18.3%), Staphylococcus aureus (9.9%), Pseudomonas spp. (8.9%), Acinetobacter spp. (7.7%) and Escherichia coli (5.9%). LOS-attributable mortality was 14.3% in EPT, 9.3% in VPT, 8.3% in LPT and 6.2% in term neonates. Multiple logistic regression analysis showed that EPT, small-for-gestation (SGA), conventional mechanical ventilation (CMV), high frequency ventilation (HFV), TPN and use of central venous lines (CVL) were significant independent risk factors associated with LOS in neonates <32 weeks' gestation. The significant independent risk factors associated with mortality in neonates with LOS were SGA, CMV, HFV, gram-negative sepsis, fungal sepsis, and pneumothorax.

Conclusion: Gram-negative bacteria were the commonest pathogens. Decreasing the usage of invasive ventilation, CVL and TPN may reduce the incidence and mortality of LOS, particularly in neonates <32 weeks gestation.

Trichoblastic carcinoma, trichoblastoma, trichoepithelioma, and basal cell carcinoma are histologically characterised by basaloid cell proliferation. In this report, we describe the case of a 76-year-old man who presented with trichoblastic carcinoma admixed with histological features of trichoblastoma, trichoepithelioma, and basal cell carcinoma. These tumours may not be situated separately but must be related to each other in terms of tumorigenesis. The correct biological behavior of trichoblastic carcinoma with other components is unknown and further careful follow-up after resection is required.

Introduction: Endometrial cancer is one of the leading gynaecological malignancies in developed countries and becoming more prevalent in Malaysia. These have significant impact in women and management of this disease. If it occurs on young women, and as a whole becomes a burden on the national economy and world. This research aims to evaluate the clinical presentation and histopathological features of endometrial epithelial cancer among women treated in a University Hospital.

Materials and methods: Endometrial cancer cases were retrieved from the Pathology Department's Laboratory Information. The histopathology examination reports of the selected cases were reviewed, and the findings and diagnosis were recorded. The descriptive data was presented using pie charts, bar graphs, and tables.

Results: Endometrial cancer recorded the highest in 2022 and less than 15 of endometrial cancer cases were recorded in other years. Women with endometrial cancer diagnosed between the ages of 50 and 59 have the highest percentage (36.6%). It is the most prevalent high number (89%) among female Malay race people. Hypertension and diabetes were found in 52.5% and 37.8% of endometrial cancer patients, respectively. Endometrial cancer patients were also overweight or obese (68.2%). Endometrial cancers were of endometrioid subtypes with tumour grade 1 (71.6%) and early the stage 1 (57.6%). The myometrial invasion in 64.7% of endometrial cancer patients exhibited a superficial invasion depth of less than 50% (54.7%). Lymphovascular invasion was observed in 28.9% of diagnosed cases.

Conclusion: Despite belonging to the postmenopausal and overweight/obesity categories, Malay Kelantanese women diagnosed with endometrial cancer exhibited some favourable prognostic indicators.

Multiple myeloma (MM), a clonal B-cell neoplasia, is an incurable and heterogeneous disease where survival ranges from a few months to more than 10 years. The clinical heterogeneity of MM arises from multiple genomic events that result in tumour development and progression. Recurring genomic abnormalities including cytogenetic abnormalities, gene mutations and abnormal gene expression profiles in myeloma cells have a strong prognostic power. With the advancement in technologies and the development of novel drugs, the prognostic factors and treatment paradigms of MM have been fast evolving over the past few years. Following the introduction of new highthroughput cytogenomic technologies such as array comparative genome hybridisation (aCGH) or single nucleotide polymorphism array (SNP array) and molecular techniques such as gene expression profiling (GEP) and massively parallel genomic sequencing, the prediction of survival in MM no longer solely depends on conventional cytogenetics and interphase fluorescence in situ hybridisation (iFISH) analysis findings. These new technologies enable screening for all possible chromosomal aberrations and other genomic alterations, identifying each aberration on a case-bycase basis and discovering new aberrations that are relevant in unraveling the tumor cells' complex biology. This in turn allows a better understanding of the disease complexity and heterogeneity. The objective of this review on the genetic architecture of MM is to discuss the latest developments on the cytogenetic/cytogenomic-based risk classification of MM that are currently in use and their prognostic implications.