Malaysian Journal of Pathology最新文献_第3页

Evaluation of variant calling methods of sequencing data for BCR::ABL1 kinase domain mutation detection. BCR::ABL1激酶结构域突变检测测序数据的变体调用方法评价。

IF 0.6 4区医学

Malaysian Journal of Pathology Pub Date : 2025-04-01

Z Abu Seman, F Ahid, N R Kamaluddin, E N Mohd Sahid, E Esa, S S Muhamed Said, N Azman, W K D Wan Mat, J Abdullah, N A Ali, Y Mat Yusoff

引用次数: 0

Strategies to reduce invasive neonatal Group B Streptococcal disease in Malaysia. 减少马来西亚新生儿浸润性B群链球菌病的策略。

IF 0.6 4区医学

Malaysian Journal of Pathology Pub Date : 2025-04-01

N Y Boo

{"title":"Strategies to reduce invasive neonatal Group B Streptococcal disease in Malaysia.","authors":"N Y Boo","doi":"","DOIUrl":"","url":null,"abstract":"Invasive neonatal Group B streptococcal (GBS) disease is a globally recognised serious condition. Its most devastating impact is during perinatal and postnatal periods. Epidemiological studies from high-income countries (HICs) showed that maternal rectovaginal GBS colonisation is the leading cause. It was estimated that world-wide, there were 20 million pregnant women with rectovaginal GBS colonisation which has caused 46,200 stillbirths, 40,500 cases of invasive maternal diseases, and 231,800 cases of early-onset and 162,200 cases of late-onset sepsis in neonates/infants. Among neonates/infants who have recovered from the disease, 37,100 suffered neurodevelopmental impairment. The current preventive measures in HICs consist of universal screening for maternal rectovaginal GBS colonisation at 35- to 37-week gestation, followed by intrapartum antibiotic prophylaxis for positive cases. This has prevented more than 80% of early-onset GBS disease. In Malaysian public hospitals, only targeted screening for maternal GBS colonisation was practiced in high-risk women with previous perinatal GBS infection/disease. We do not have national data on a) maternal GBS rectovaginal colonisation rates, b) stillbirths caused by GBS infections, c) preterm birth associated with maternal GBS colonisation, and d) neurodevelopmental impairment following invasive neonatal GBS disease. We only have national data of neonatal GBS sepsis which showed high morbidity and mortality. To reduce invasive neonatal GBS disease in Malaysia, we need national data on the prevalence of maternal GBS rectovaginal colonisation, its associated risk with stillbirths, and GBS-associated preterm births to help improve current preventive strategies to reduce invasive GBS disease during the perinatal and postnatal periods.","PeriodicalId":48723,"journal":{"name":"Malaysian Journal of Pathology","volume":"47 1","pages":"25-29"},"PeriodicalIF":0.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143993027","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

Reduced dense granules in platelet by electron microscopy in a patient with abnormal platelet aggregation with ADP and arachidonic acid: A case report of delta storage pool disorder. ADP和花生四烯酸伴血小板聚集异常患者的电镜下血小板致密颗粒减少：三角洲储存池障碍1例报告。

IF 0.6 4区医学

Malaysian Journal of Pathology Pub Date : 2025-04-01

N Yusof, R Yousuf, N I Othman, S Abdul Aziz, L H Mohd Pauzy, D A Abdul Aziz

{"title":"Reduced dense granules in platelet by electron microscopy in a patient with abnormal platelet aggregation with ADP and arachidonic acid: A case report of delta storage pool disorder.","authors":"N Yusof, R Yousuf, N I Othman, S Abdul Aziz, L H Mohd Pauzy, D A Abdul Aziz","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: Delta storage pool disease (δ-SPD) is a platelet function disorder due to the decreased number and contents of dense granules causing bleeding symptoms. Diagnosis of δ-SPD is a complex procedure due to the variability of test results in platelet aggregometry and also it requires specialised tests. Electron microscopy (EM) is a promising tool to help in the diagnosis of this disorder. We report here a rare case of δ-SPD confirmed by EM.Case report: A 42-year-old lady presented with prolonged bleeding history from a leech bite for 3 days. She also has a history of bleeding of variable severity for more than 20 years. On presentation, blood was oozing from the bite mark on her right wrist and there were multiple small bruises over her lower limbs. Full blood count, peripheral blood smear, coagulation profile, factor VIII assay, factor IX assay, von Willebrand Factor antigen and activity, bleeding time, and clot retraction test were normal. Platelet aggregation tests showed poor aggregation with ADP with a lag phase >60 seconds with arachidonic acid. There was poor ATP release reaction with ADP and arachidonic acid suggesting a storage defect. Subsequently, the EM of the platelets was performed and showed reduced dense granules indicating delta storage pool deficiency (δ-SPD). She was counselled about her diet and medication which seems to control her symptoms.Conclusions: This case report highlights rare δ-SPD confirmed by EM. Diagnosis of this disorder is crucial in managing the patient. Highly specialised tests including platelet aggregometry, EM and molecular analysis are helpful in diagnosing this rare SPD.","PeriodicalId":48723,"journal":{"name":"Malaysian Journal of Pathology","volume":"47 1","pages":"121-127"},"PeriodicalIF":0.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144035869","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 benign appearing metastatic breast carcinoma to the mandible: A case report. 颌下部良性转移性乳腺癌1例报告。

IF 0.6 4区医学

Malaysian Journal of Pathology Pub Date : 2025-04-01

N Ibrahim, N I Mahamad Apandi, N Rosli, R Ramli

引用次数: 0

Tuberculosis in Malaysia: Disease timeline, epidemiology, control initiatives and outlook. 马来西亚结核病：疾病时间表、流行病学、控制举措和前景。

IF 0.6 4区医学

Malaysian Journal of Pathology Pub Date : 2025-04-01

F A Fadzil, S R Ramli, H Neoh

{"title":"Tuberculosis in Malaysia: Disease timeline, epidemiology, control initiatives and outlook.","authors":"F A Fadzil, S R Ramli, H Neoh","doi":"","DOIUrl":"","url":null,"abstract":"In Malaysia, tuberculosis remains a public health problem despite initiatives in disease control and prevention. This review explores the timeline of pulmonary tuberculosis (PTB) in Malaysia, epidemiology, management and outlook of the disease in the country. PTB was first reported in Malaya in the early 20th century and caused high morbidity and mortality. With the establishment of the National TB Control Programme in 1961 and chest clinics in every state general hospital, mortality was successfully reduced. Nonetheless, PTB incidence rate increased steadily after 2011, and Malaysia is currently an endemic country for the disease. Diagnosis for PTB is performed according to the Ministry of Health's Clinical Practice Guidelines which include chest X-ray, sputum culture and antibiotic susceptibility testing. Patients are treated according to WHO guidelines. While the country has seen a 0.02% decrease in drug-resistant cases in recent years; two cases of extensively drug-resistant tuberculosis have been reported. All major Mycobacterium tuberculosis lineages (Indo-Oceanic; East-Asian (including Beijing), East-African-Indian and Euro-American) have been reported in the country. The Beijing family of strains were found to have a higher prevalence in Peninsular Malaysia compared with Sabah and Sarawak, suggesting divergence of pathogen evolution between the two locations. Most antibiotic-resistant strains were found to harbour mutations in rpoB, katG, embB and pncA. Increasing usage of molecular platforms and artificial intelligence in diagnostics, apps and alert systems for better surveillance, and implementation of universal coverage in terms of treatment will be important for the country to achieve a tuberculosis-free status in 2035.","PeriodicalId":48723,"journal":{"name":"Malaysian Journal of Pathology","volume":"47 1","pages":"13-23"},"PeriodicalIF":0.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052701","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

Prevalence of KCNJ5 mutations in aldosterone-producing adenomas among Malaysian primary aldosteronism patients: Genotype-phenotype correlation. 马来西亚原发性醛固酮增多症患者中醛固酮产生腺瘤中KCNJ5突变的患病率：基因型-表型相关性

IF 0.6 4区医学

Malaysian Journal of Pathology Pub Date : 2025-04-01

N S Mohd Rizam, M Mustangin, F A Pauzi, S K Syed Mohammed Nazri, G C Tan, N Sukor, A B Nasruddin, E A Azizan

{"title":"Prevalence of KCNJ5 mutations in aldosterone-producing adenomas among Malaysian primary aldosteronism patients: Genotype-phenotype correlation.","authors":"N S Mohd Rizam, M Mustangin, F A Pauzi, S K Syed Mohammed Nazri, G C Tan, N Sukor, A B Nasruddin, E A Azizan","doi":"","DOIUrl":"","url":null,"abstract":"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.","PeriodicalId":48723,"journal":{"name":"Malaysian Journal of Pathology","volume":"47 1","pages":"63-76"},"PeriodicalIF":0.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143992493","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

Acute rotavirus gastroenteritis in children less than 5 years old: Salient clinical and laboratory features. 5岁以下儿童急性轮状病毒胃肠炎：突出的临床和实验室特征

IF 0.6 4区医学

Malaysian Journal of Pathology Pub Date : 2025-04-01

C H Ding, A A Wahab, A Ali, H Hasan, N A Nasirudeen, M A F Ruzlan, M A Mohd Jamil

{"title":"Acute rotavirus gastroenteritis in children less than 5 years old: Salient clinical and laboratory features.","authors":"C H Ding, A A Wahab, A Ali, H Hasan, N A Nasirudeen, M A F Ruzlan, M A Mohd Jamil","doi":"","DOIUrl":"","url":null,"abstract":"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.","PeriodicalId":48723,"journal":{"name":"Malaysian Journal of Pathology","volume":"47 1","pages":"85-90"},"PeriodicalIF":0.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144034903","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

Abstracts of the 11th National Transfusion Medicine Conference 2024: Breaking Barriers and Empowering Changes, held on 13th to 15th September 2024 in Kota Kinabalu, Sabah. 2024年9月13日至15日在沙巴州哥打京那巴鲁举行的第11届全国输血医学会议：打破障碍，赋予变革力量。

IF 0.6 4区医学

Malaysian Journal of Pathology Pub Date : 2025-04-01

引用次数: 0

Digital pathology and artificial intelligence in diagnostic pathology. 诊断病理学中的数字病理学和人工智能。

IF 0.6 4区医学

Malaysian Journal of Pathology Pub Date : 2025-04-01

P Jariyapan, W Pora, N Kasamsumran, S Lekawanvijit

引用次数: 0

The pattern of injuries in homicidal deaths: A retrospective study. 杀人性死亡的伤害模式：一项回顾性研究。

IF 0.6 4区医学

Malaysian Journal of Pathology Pub Date : 2025-04-01

W N H Wan Razali, F Mohd Nor, M S Shafee

{"title":"The pattern of injuries in homicidal deaths: A retrospective study.","authors":"W N H Wan Razali, F Mohd Nor, M S Shafee","doi":"","DOIUrl":"","url":null,"abstract":"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.","PeriodicalId":48723,"journal":{"name":"Malaysian Journal of Pathology","volume":"47 1","pages":"103-111"},"PeriodicalIF":0.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988736","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