Malaysian Journal of Pathology最新文献

Introduction: Thalassaemia comprises inherited disorders characterised by impaired synthesis of globin chains, leading to varying phenotypes from mild to severe anaemia, transfusion-dependent. The Malaysian Thalassaemia Registry reports that 57.69% of patients are classified as Transfusion-Dependant Thalassaemia (TDT). Despite diagnostic advancements, local data linking genetic mutations with clinical and laboratory features of TDT remain limited. This study aims to address this gap by evaluating paediatric TDT patients at Hospital Tuanku Azizah (HTA), Kuala Lumpur, Malaysia.

Materials and methods: A single-centre, cross-sectional study involving TDT patients at HTA from January to December 2022.

Results: The cohort included 95 patients (52.6% male, 47.4% female), predominantly Malay (88.4%). Twenty-seven distinct genetic mutations were identified across alpha and beta globin genes, the most common being βE. All patients had at least two mutations, with the most prevalent combination being HbE beta thalassaemia (45.3%), followed by beta thalassaemia major (32.6%), HbH disease (15.8%), and co-inheritance of alpha and beta thalassaemia (6.3%). Beta thalassaemia major shows the most severe phenotype: mean age at diagnosis is 12 months, mean haemoglobin at diagnosis of 5.2 g/dL, and mean age of regular transfusion is 16 months. Mean serum ferritin is highest in co-inheritance of alpha and beta thalassaemia (2616µg/L). The One-Way ANOVA test confirms the statistically significant differences in the median age of diagnosis (p=0.006), median age of starting regular transfusion (p=0.001), and median haemoglobin level at diagnosis (p=0.002) among different DNA combinations.

Conclusion: This study demonstrates that genetic mutations significantly influence the phenotypes of TDT patients and are essential in guiding management and prognosis.

Introduction: International guidelines recommend having a positive anti-nuclear antibody (ANA) and clinical suspicion of systemic autoimmune rheumatic diseases (SARD) when requesting ANA subserologies. Compliance with these guidelines by physicians has been questioned in different parts of the world.

Objective: To analyse the requesting pattern of ANA and anti-extractable nuclear antigens (ENA) simultaneously in the University of Malaya Medical Centre (UMMC).

Materials and methods: This is a retrospective descriptive study involving 1529 adult patients who had their ANA and ANA subserologies requested simultaneously by clinicians. The ANA, anti-ENA screening (ENASc) and anti-ENA specific (ENASp) results were retrieved. Their case records on their relevant diagnosis and follow-up tests were reviewed.

Results: Among the 1,529 samples, 536 (35%) patients were positive, and 993 (65%) patients were negative for ANA by indirect immunofluorescence assay (IIF). In the ANA positive group, 109 (20%) were positive and 46 (9%) were borderline for ENASc. Of those ENASc positive patients, only 47 patients were requested for ENASp. Forty-one (87.2%) were positive for ENASp, In the ANA negative group, 111 (11%) were positive and 66 (7%) were borderline for ENASc. The majority of the ENASc positive (86, 77%) or borderline (63, 95%) had not been requested for ENASp in this group. Of those who had ENASp tests done (28), 19 (76%) were positive and 3 were borderline positive for ENASp. A total of 223 patients were diagnosed with SARD, out of which 147 had SARD in the ANA positive group (66%), with systemic lupus erythematosus being identified as the commonest SARD. A total of 76 patients were diagnosed with SARD in the ANA negative group (34%), with rheumatoid arthritis being identified as the commonest SARD.

Conclusion: A large number of ENASc negative results are obtained concurrently with ANA negative results, suggesting clinicians do not comply with international guidelines when requesting ENA tests. This survey strongly suggests implementing measures in hospitals to comply with international recommendations on ENA testing.

Alcohol-related liver disease (ALD) is a significant public health issue, leading to liver injuries, including fatty liver, hepatitis, and cirrhosis. The COVID-19 pandemic has exacerbated the problem by increasing alcohol abuse and hospitalisations for ALD. Since there are no approved therapies for ALD, promoting abstinence from alcohol is the primary approach. However, the mechanisms by which alcohol induces fat accumulation in the liver, the disease's initial stage, are not fully understood. This knowledge gap hampers the development of new treatments for ALD. This review aims to explore research on alcohol-induced fatty liver and compare it with metabolic-associated fatty liver disease. The goal is to merge these findings with current knowledge of ALD and hepatic lipid metabolism, including fatty acid oxidation, lipogenesis, and very-low-density lipoprotein (VLDL) secretion. Besides lipid metabolism, factors like inflammation, oxidative stress, cellular hypoxia, and autophagy also contribute to ALD's development and progression. By identifying gaps in understanding the molecular mechanisms of ALD progression, this review suggests future research directions. It emphasises how alcohol disrupts hepatic lipid metabolism, highlighting mechanisms leading to alcohol-associated fatty liver disease and other harmful effects of alcohol abuse.

No abstract available.

No abstract available.

Lysosomal storage disorders (LSD) are storage disorders involving the malfunction of degradation enzymes in the lysosome. This study aimed to calculate the birth prevalence and carrier frequency of LSDs in the Malaysian population, to compare our results with previously reported epidemiologic data from other populations, and to describe the mutation spectrum in Malaysia. Between 2008 and 2017, 2.1% (92/4338) of suspected patients were diagnosed with LSD. The prevalence of LSD and carrier frequency in Malaysia were 0.43 per 100,000 live births and 1 in 241, respectively. The combined prevalence of mucopolysaccharidoses (MPS) and its carrier frequency were 0.34 per 100,000 live births and 1 in 271, respectively. Among this MPS group, MPS II presented the highest calculated birth prevalence of 0.45 per 100,000 male live births with a carrier frequency of 1 in 236. Within the group of sphingolipidoses, the combined prevalence was 0.13 per 100,000 live births with a carrier frequency of 1 in 439. Fabry disease was the most common disorder with a calculated prevalence of 0.52 per 100,000 male live births and a carrier frequency of 1 in 220 followed by metachromatic leukodystrophy (MLD) (0.2 per 100,000 live birth and carrier frequency 1 in 352). MLD is more common among people of Iban ethnicity with a prevalence of 14.33 per 100,00 live births and a carrier frequency of 1 in 42. Pompe and mucolipidosis type II are the less common subtypes of LSD with a prevalence of 0.06 per 100,000 live births and a carrier frequency of 1 in 651 and 0.04 per 100,000 live births with carrier frequency of 1 in 747, respectively. Overall, although the prevalence of LSD in Malaysia may be underestimated, the prevalence of MPS is consistent with reports done in other Asian countries.

Introduction: Microplastics (MPs) and nanoplastics (NPs) are pervasive environmental contaminants with growing concerns about their ingestion through food and water sources. Although animal studies suggest adverse health effects, direct mechanistic evidence in human gastrointestinal (GI) systems remains limited. In vitro models using human GI cell lines and organoids offer a physiologically relevant platform for investigating the effects of MPs and NPs on human health. However, existing findings are fragmented and lack systematic synthesis. This systematic review aims to consolidate and critically analyse current evidence on the biological effects of MPs and NPs in human GI in vitro studies.

Materials and methods: Articles were selected from a previously conducted systematic search across Scopus and PubMed databases. Studies excluded from the prior review but relevant to MPs and NPs effects on human GI cells were re-screened under newly defined inclusion and exclusion criteria.

Results: A total of 30 studies were included. MPs and NPs were shown to induce size- and concentration-dependent biological effects, including increased cellular uptake, oxidative stress, mitochondrial dysfunction, inflammation, and apoptosis. Smaller particles consistently exhibited greater cellular internalisation and biological effects. These effects mainly occurred at high concentrations. Under chronic exposure, most studies reported minimal or no significant effects except for cell viability.

Conclusion: This review provides the first comprehensive synthesis of in vitro evidence on the biological effects of MPs and NPs in human GI models. It advances mechanistic understanding and outlines future directions to strengthen health risk assessment, inform strategies for disease prevention, and guide public health policies addressing microplastic exposure.

Breast cancer remains a significant health concern, particularly in Malaysia, where it stands as the most prevalent cancer among women. The BRCA, implicated in inherited breast cancer syndromes, has garnered considerable attention due to its role in tumorigenesis. Utilising next-generation sequencing and bioinformatic tools, researchers have compiled a comprehensive database of BRCA variants specific to the Malaysian population. This article reviews the distribution of these variants across different ethnic groups in Malaysia and explores their implications for biosensor development. By leveraging this database, researchers aim to construct biorecognition elements for electrochemical biosensors, enabling affordable and accessible genetic screening for breast cancer mutations. The article underscores the importance of adhering to technical standards and considering ethnic diversity in selecting biorecognition elements. Ultimately, the integration of Malaysian BRCA variants into biosensor technology holds promise for enhancing early detection and improving clinical management of breast cancer in the Malaysian population.

This manuscript documents examples of bone marrow cores where subcortical spaces are significantly different in comparison with deep core spaces. The differences include significantly higher or lower cellularity in addition to discrepant involvement by malignant processes. While this phenomenon is generally familiar to practicing pathologists, it is not adequately illustrated in the medical literature. Publication of such illustrated examples may help generate more interest in this phenomenon as well as emphasise the constant need for adequate marrow specimens to avoid diagnostic pitfalls.