Malaysian Journal of Pathology最新文献

Prevalence of lysosomal storage disease (LSD) in Malaysia. 马来西亚溶酶体贮积病（LSD）的患病率。

IF 1 4区医学

Malaysian Journal of Pathology Pub Date : 2025-08-01

A Omar, S Abdul Rahman, R Mohamed, F D Amin Nordin, N Mohamed Shakrin, S Mukhtaroh Nasohah, N S Sallih, N A Abdul Azize, S A Abdul Wahab, S H Lua, Y Yakob, W A S Mohamed, M S Ahmad Noorden, J Abdul Jalil

{"title":"Prevalence of lysosomal storage disease (LSD) in Malaysia.","authors":"A Omar, S Abdul Rahman, R Mohamed, F D Amin Nordin, N Mohamed Shakrin, S Mukhtaroh Nasohah, N S Sallih, N A Abdul Azize, S A Abdul Wahab, S H Lua, Y Yakob, W A S Mohamed, M S Ahmad Noorden, J Abdul Jalil","doi":"","DOIUrl":"","url":null,"abstract":"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.","PeriodicalId":48723,"journal":{"name":"Malaysian Journal of Pathology","volume":"47 2","pages":"273-285"},"PeriodicalIF":1.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144974983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Effect of microplastics and nanoplastics in gastrointestinal tract on gut health: A systematic review. 胃肠道微塑料和纳米塑料对肠道健康的影响：系统综述。

IF 1 4区医学

Malaysian Journal of Pathology Pub Date : 2025-08-01

Y H Tan, N Mokhtar, R A Raja Ali, L T Gew

{"title":"Effect of microplastics and nanoplastics in gastrointestinal tract on gut health: A systematic review.","authors":"Y H Tan, N Mokhtar, R A Raja Ali, L T Gew","doi":"","DOIUrl":"","url":null,"abstract":"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.","PeriodicalId":48723,"journal":{"name":"Malaysian Journal of Pathology","volume":"47 2","pages":"221-231"},"PeriodicalIF":1.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144975214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

AI-generated scientific papers: Is it acceptable? 人工智能生成的科学论文：可以接受吗？

IF 1 4区医学

Malaysian Journal of Pathology Pub Date : 2025-08-01

G C Tan, Y P Wong, S K Cheong

引用次数: 0

Utilisation of the Malaysian BRCA variants database to construct a target panel for biosensor-based genetic breast cancer screening. 利用马来西亚BRCA变异数据库构建基于生物传感器的遗传性乳腺癌筛查的靶板。

IF 1 4区医学

Malaysian Journal of Pathology Pub Date : 2025-08-01

N F Hamzah, Z Mohd Zain, M I Lai, H Hussin

引用次数: 0

Subcortical bone marrow and deep marrow differences: A comparison in a series of 5 cases. 皮层下骨髓与深部骨髓的差异：5例临床比较。

IF 1 4区医学

Malaysian Journal of Pathology Pub Date : 2025-08-01

S B Kahwash

引用次数: 0

Podocyte infolding glomerulopathy: Clinical insights from two case studies in Malaysia. 足细胞与折叠性肾小球病变：来自马来西亚两个病例研究的临床见解。

IF 1 4区医学

Malaysian Journal of Pathology Pub Date : 2025-08-01

N A Che Jalil, H K Gnanasegaram, E Mohamad Mokhtar, N A Muhamad Hendri

{"title":"Podocyte infolding glomerulopathy: Clinical insights from two case studies in Malaysia.","authors":"N A Che Jalil, H K Gnanasegaram, E Mohamad Mokhtar, N A Muhamad Hendri","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: Podocyte infolding glomerulopathy (PIG) is a rare glomerular disorder characterised by the infolding of podocytes into the glomerular basement membrane (GBM) with the presence of intramembranous cytoplasmic microspherules or microtubules. Most patients with PIG presented with nephrotic or subnephrotic proteinuria accompanied with microscopic haematuria. The condition is often associated with autoimmune diseases.Case report: Recently, two cases of PIG were reported in Malaysia for the first time involving two female patients aged 25 and 36 years. The first patient had a history of systemic lupus erythematosus (SLE), peripheral neuropathy, anti-nuclear matrix protein 2 (NXP2)-positive antibody, autoimmune hypothyroidism, and primary ovarian failure. She presented with persistent nephrotic range proteinuria and haematuria. Meanwhile, the second patient with history of SLE presented at rheumatology clinic with bilateral pedal oedema, frothy urine, and haematuria. The electron microscopy (EM) analysis of the first patient revealed widespread and extensive invagination of podocyte cytoplasmic processes into the GBM, forming subepithelial clusters of microspherules and microtubules and separated by an intervening basement membrane. Likewise, extensive infolding of podocyte cytoplasmic processes into the GBM were found in the second case, and the intervening basement membrane separated the microspherules and microtubules.Discussion: These findings confirmed the diagnosis of PIG, and the patients were treated with Prednisolone, maintaining normal creatinine level during follow-up. In summary, PIG is a rare and new glomerular disease which has been known to be associated with connective tissue diseases, predominantly affecting young individuals with a favourable clinical outcome.","PeriodicalId":48723,"journal":{"name":"Malaysian Journal of Pathology","volume":"47 2","pages":"301-308"},"PeriodicalIF":1.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144974979","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A case of large renal angiomyolipoma resulted in hydronephrosis. 大肾血管平滑肌脂肪瘤致肾积水1例。

IF 1 4区医学

Malaysian Journal of Pathology Pub Date : 2025-08-01

W M Phang, J W D Tan, E H Goh, L L Goh, Y P Wong, G C Tan

{"title":"A case of large renal angiomyolipoma resulted in hydronephrosis.","authors":"W M Phang, J W D Tan, E H Goh, L L Goh, Y P Wong, G C Tan","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: Renal angiomyolipoma is one of the members of the perivascular epithelioid cell (PEC) tumour family. It has a characteristic triphasic morphology featuring varying proportions of dysmorphic blood vessels, smooth muscle cells, and mature adipose tissue. Large angiomyolipomas pose a risk of haemorrhagic complications.Case report: A 47-year-old woman presented with right abdominal pain for 2 months, and radiological investigation revealed a 14.2 cm renal mass causing hydronephrosis. The symptoms persisted after arterial embolisation and hence, nephrectomy was performed. The excised renal tumour weighed 1,442 grams. There was a well-circumscribed yellow mass confined within the Gerota's fascia. Histological examination revealed a classic triphasic morphology comprising mature adipose tissue, dysmorphic blood vessels, and smooth muscle. Notably, there were post-embolisation histological changes in extensive fat necrosis and foreign body giant cell reaction. Immunohistochemically, it expressed HMB45, MelanA, and SMA, while it was negative for PAX8 and pan-cytokeratin.Discussion: We described a case of renal angiomyolipoma with classic gross appearance of adipose-rich tumour and the triphasic histological features and discussed the post-embolisation histological changes.","PeriodicalId":48723,"journal":{"name":"Malaysian Journal of Pathology","volume":"47 2","pages":"315-318"},"PeriodicalIF":1.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144975197","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Diagnostic accuracy of high-sensitivity troponin I in an accelerated protocol to assess 30-day outcomes among chest pain patients in the emergency department. 高灵敏度肌钙蛋白I在加速方案中的诊断准确性，以评估急诊科胸痛患者30天的预后。

IF 1 4区医学

Malaysian Journal of Pathology Pub Date : 2025-08-01

P N S Hasan, S Y Zahari Sham, S C Thambiah, I N Samsudin, I Ismail, A F Abdul Aziz, C Anthonysamy, R Omar

{"title":"Diagnostic accuracy of high-sensitivity troponin I in an accelerated protocol to assess 30-day outcomes among chest pain patients in the emergency department.","authors":"P N S Hasan, S Y Zahari Sham, S C Thambiah, I N Samsudin, I Ismail, A F Abdul Aziz, C Anthonysamy, R Omar","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: In Malaysia, acute coronary syndrome is the leading cause of hospitalisation. Identification of patients with low 30-day risk of major adverse cardiac event (MACE) may facilitate an early and safe discharge from overcrowding emergency departments (ED). This study aimed to determine the diagnostic accuracy of high-sensitivity-cardiac-troponin-I (hs-cTnI) for ruling out 30-day MACE among chest pain patients in ED.Materials and methods: A prospective observational study using an Accelerated Diagnostic Protocol (ADP) which included Thrombolysis-in-Myocardial-Infarction (TIMI) score, electrocardiogram, and 0- and 3-hour hs-cTnI. TIMI = 0 and ≤1 was used in ADP-1 and ADP-2, respectively.Results: 20 (10%) and 64 (32%) of 201 patients were low-risk, whereby none of whom developed MACE in ADP-1 and ADP-2, respectively. Using the overall hs-cTnI cut-off, ADP-1 had a Sensitivity (Sn) of 100% [95% Confidence Interval (CI)] (51.7 to 100), Specificity (Sp) of 10.2% (6.5 to 15.6), Negative Predictive Value (NPV) of 100% (80.0 to 100) and Positive Predictive Value (PPV) 3.3% (1.4 to 7.4). ADP-2 yielded a Sn of 100% (51.7 to 100), Sp of 32.8% (26.4 to 40.0), NPV of 100% (92.9 to 100) and PPV of 4.4% (1.8 to 9.7). Using gender-specific hs-cTnI cut-off, either that of Abbott or a Malaysian population, yielded similar diagnostic accuracy; except the former produced slightly higher Sp of 75.4% (68.7-81.1).Conclusion: Using either the overall or gender-specific cut-offs, both protocols yielded 100% diagnostic accuracy for ruling out MACE which may enable a safe early discharge of up to 32% of chest pain patients in ED.","PeriodicalId":48723,"journal":{"name":"Malaysian Journal of Pathology","volume":"47 2","pages":"263-271"},"PeriodicalIF":1.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144975228","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Silent killer - a case of sudden death linked to lymphocytic thyroiditis. 沉默杀手——一例与淋巴细胞性甲状腺炎有关的猝死。

IF 1 4区医学

Malaysian Journal of Pathology Pub Date : 2025-08-01

U K F Mohd Mussadik, H S Zaki, H S Hasim, K L Chng

{"title":"Silent killer - a case of sudden death linked to lymphocytic thyroiditis.","authors":"U K F Mohd Mussadik, H S Zaki, H S Hasim, K L Chng","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: Sudden unexpected death (SUD) in a healthy young adult presents a challenging scenario that forensic pathologists often encounter. Although they are rare, thyroid diseases such as hyperthyroidism, hypothyroidism, and lymphocytic thyroiditis can contribute to SUD. Comprehensive investigations, including thyroid histological evaluation, are critical to identify underlying causes. This report discusses a rare case of lymphocytic thyroiditis in a young male who died unexpectedly, highlighting the forensic value of thyroid pathology in SUD cases.Case report: A 25-year-old Bangladeshi male, with no known comorbidities, was found unresponsive in bed and was brought to the hospital, where resuscitation efforts in the emergency department were unsuccessful. He had no complaints of health issues in the past two weeks before his death. There was no family history of SUD. Externally, there was no evidence of injury or systemic disease. Gross examination of vital organs, including the heart and brain, was unremarkable. A cricothyroidotomy incision partially obscured the thyroid gland. However, histological analysis revealed lymphocytic infiltration, follicular destruction in the thyroid glands, and fibrosis in the sinoatrial (SA) node. Extensive toxicological tests were negative and no thyroid function tests or molecular autopsy were performed.Conclusion: Lymphocytic thyroiditis should be considered in SUD cases, even with unremarkable gross findings or nonspecific clinical history. Routine microscopic thyroid examination could reveal subtle yet significant conditions contributing to SUD. Establishing standardised autopsy guidelines focusing on thorough thyroid assessment may improve post-mortem diagnostics and enhance the understanding of thyroid pathology in SUD.","PeriodicalId":48723,"journal":{"name":"Malaysian Journal of Pathology","volume":"47 2","pages":"309-313"},"PeriodicalIF":1.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144974959","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Causes of neonatal deaths in Malaysian neonatal intensive care units in 2015-2020: A descriptive study. 2015-2020年马来西亚新生儿重症监护病房新生儿死亡原因：一项描述性研究

IF 1 4区医学

Malaysian Journal of Pathology Pub Date : 2025-08-01

N Y Boo, E B K Ang, E L Ang

{"title":"Causes of neonatal deaths in Malaysian neonatal intensive care units in 2015-2020: A descriptive study.","authors":"N Y Boo, E B K Ang, E L Ang","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: To investigate the major causes of neonatal deaths in Malaysian neonatal intensive care units (NICUs).Materials and methods: This retrospective observational study analysed prospectively collected data of neonates (gestation ≥22 weeks, birthweight ≥500g) admitted to 44 NICUs in the years 2015-2020 in the Malaysian National Neonatal Registry. Causes of death were reported using the modified Wigglesworth classification.Results: Out of 759,435 neonates, 1.2% (n=9470) died. Most (72.3%) were early neonatal deaths (0-7days of life), 17.5% were late neonatal deaths (8-28 days of life), and 10.2% were post-neonatal deaths (>28 days of life). Inborn extremely preterm (EPT, <28 weeks gestation) neonates had the highest death rates (427.5/1000 livebirths) and term neonates (1.7/1000 livebirths) had the lowest. Congenital malformations accounted for 33.0% of deaths; the majority were of gestation ≥28 weeks. Trisomy 18 (n=542), trisomy 13 (n=397), cardiovascular (CVS) malformations (n=371) and neurological malformations including neuro-tube defects (NTD) (n=252) were the four most common types of malformations. The three most common causes of non-malformation deaths were EPT (n=1424), sepsis (n=867, affecting all gestations), and hypoxic-ischaemic encephalopathy (HIE) in term neonates with/without multiorgan failure (n=570). Less than one-third of EPT neonates who died received respiratory support at birth. Most (85.3%) sepsis death was late-onset sepsis (≥72 hours of age). Only 27.8% term neonates dying from HIE received adequate therapeutic hypothermia.Conclusions: Extreme prematurity, nosocomial sepsis, HIE in term neonates, chromosomal abnormalities due to trisomy 18 and trisomy 13, ductal-dependent CVS malformations, and NTD were the six most common causes of neonatal deaths in Malaysian NICUs.","PeriodicalId":48723,"journal":{"name":"Malaysian Journal of Pathology","volume":"47 2","pages":"233-245"},"PeriodicalIF":1.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144975191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0