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Fulltext Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency

Ngu LH, Zabedah MY, Shanti B, Teh SH

Malays J Pathol, 2008 Dec;30(2):109-14.
PMID: 19291920 MyJurnal

We report the biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency. Organic aciduria typical of this rare inborn error metabolism was found when the elder sibling presented with an episode of severe ketoacidosis at 20 months of age, which consisted of excessive excretion of ketones, tiglylglycine, 2-methyl-3-hydroxybutyrate, and 2-methylacetoacetate. Blood acylcarnitiness profile showed elevation of C5OH-carnitine, which represents 2-methyl-3-hydroxybutyrylcarnitine. A similar biochemical profile was identified in the younger sibling during screening although he had only mild clinical symptoms. Both patients reported a favourable outcome on follow-up.
Fulltext Lupus nephritis in childhood

Peh SC, Looi LM, Lam KL, Teh BH

Malays J Pathol, 1987 Aug;9:73-8.
PMID: 3452712

In the 12-year period between 1974 and 1985, 19 children aged between 8 and 12 years with systemic lupus erythematosus (SLE) were seen in the Department of Paediatrics, University Hospital, Kuala Lumpur. A preponderance of females (M:F = 1:2.8) and ethnic Chinese was evident. Renal biopsies revealed a wide Iange of renal morphology, including minimal change glomerulonephritis, focal proliferative glomerulonephritis, diffuse proliferative glomerulonephritis with varying degrees of severity and membranous glomerulonephritis. The majority (15) of patients had clinical SLE at the time of renal biopsy, of whom 4 were also grossly nephrotic. In the remaining 4 patients a diagnosis of SLE was made after further investigation for nephrotic syndrome (2) and acute nephritis (2). The pattern of renal pathology in childhood lupus nephritis appears not to differ significantly from adults.
Key words: Systemic lupus erythematosus, glomerulonephritis
Fulltext The discrimination of d-tartrate positive and d-tartrate negative S. enterica subsp. enterica serovar Paratyphi B isolated in Malaysia by phenotypic and genotypic methods

Ahmad N, Hoon ST, Ghani MK, Tee KY

Malays J Pathol, 2012 Jun;34(1):35-9.
PMID: 22870596 MyJurnal

Serotyping is not sufficient to differentiate between Salmonella species that cause paratyphoid fever from the strains that cause milder gastroenteritis as these organisms share the same serotype Salmonella Paratyphi B (S. Paratyphi B). Strains causing paratyphoid fever do not ferment d-tartrate and this key feature was used in this study to determine the prevalence of these strains among the collection of S. Paratyphi B strains isolated from patients in Malaysia. A total of 105 isolates of S. Paratyphi B were discriminated into d-tartrate positive (dT+) and d-tartrate negative (dT) variants by two lead acetate test protocols and multiplex PCR. The lead acetate test protocol 1 differed from protocol 2 by a lower inoculum size and different incubation conditions while the multiplex PCR utilized 2 sets of primers targeting the ATG start codon of the gene STM3356. Lead acetate protocol 1 discriminated 97.1% of the isolates as S. Paratyphi B dT+ and 2.9% as dT while test protocol 2 discriminated all the isolates as S. Paratyphi B dT+. The multiplex PCR test identified all 105 isolates as S. Paratyphi B dT+ strains. The concordance of the lead acetate test relative to that of multiplex PCR was 97.7% and 100% for protocol 1 and 2 respectively. This study showed that S. Paratyphi B dT+ is a common causative agent of gastroenteritis in Malaysia while paratyphoid fever appears to be relatively uncommon. Multiplex PCR was shown to be a simpler, more rapid and reliable method to discriminate S. Paratyphi B than the phenotypic lead acetate test.
Biphenotypic hybrid acute leukaemia detected by two colour flow cytometry

Gudum HR, Chin YM, Menaka N, Jeyaranee S, Lin HP, Tay A

Malays J Pathol, 1992 Jun;14(1):25-8.
PMID: 1469914

Immunophenotypic studies using immunofluorescent flow cytometry were performed on the blast cells of 36 patients with acute leukaemia using a panel of eight monoclonal antibodies. Six patients had blasts which co-expressed markers for lymphoid and myeloid differentiation, and which were therefore defined as biphenotypic hybrid acute leukaemia. Of the six, three patients were in the paediatric age group (below 12 years old) while the other three were more than 12 years old. Peripheral blood counts were variable; however, bone marrow infiltration was extensive (blasts > or = 75% in all). At the time of study, remission was achieved in only two patients. The authors' data show that biphenotypic hybrid acute leukaemia is not rare in Malaysia. This represents a subgroup of acute leukaemia identifiable by immunophenotyping but not by the French-American-British classification based on morphological and basic cytochemical studies alone. The recognition of this subgroup is important for both practical and theoretical reasons. There are implications for treatment of the individual patient because treatment directed at a single lineage may not be effective. The two colour flow cytometry proved to be a useful tool for diagnosis and classification of acute leukaemia.
Extensive left ventricular, pulmonary artery, and pericardial metastasis from myxoid liposarcoma 16 years after the initial detection of the primary tumour: a case report and review of the literature

Motevalli D, Tavangar SM

Malays J Pathol, 2017 Aug;39(2):201-205.
PMID: 28866706

Liposarcoma is regarded as the second most common soft tissue malignant tumour. Metastasis of liposarcoma to the heart is very rare, and to date, less than 40 cases have been reported in the literature. We report a 46 year-old male with myxoid liposarcoma of the lower extremity who developed extensive metastasis to the left ventricle, pulmonary artery, and pericardium. The patient presented with acute symptoms of dyspnea 16 years after surgical resection of the primary tumour, and his dyspnea progressed to cardio-respiratory arrest within the first few days of hospital admission.
Antifungal susceptibility of molecularly confirmed Aspergillus species from clinical samples

Tzar MN, Mustakim S, Yusoff H, Tap RM

Malays J Pathol, 2024 Apr;46(1):71-78.
PMID: 38682846

Invasive aspergillosis is the second most common invasive human mycosis but susceptibility data of Aspergillus species is limited. Antifungal treatment of aspergillosis is often done empirically without knowing the true susceptibility. Therefore, we aimed to determine antifungal susceptibility of Aspergillus species isolated from various clinical specimens over a 1-year period. We identified 28 Aspergillus isolates by sequencing the internal transcribed spacer (ITS) and β-tubulin genes and performed antifungal susceptibility testing on these isolates using Sensititre YeastOne. The isolates were identified as Aspergillus niger (60.7%), A. fumigatus (21.4%), A. flavus (10.7%), A. chevalieri (3.6%) and A. tubingensis (3.6%). Based on the European Committee on Antimicrobial Susceptibility Testing (EUCAST) Antifungal Clinical Breakpoint for Aspergillus spp., 16/17 (94.1%) A. niger isolates were susceptible to amphotericin B, all six isolates (100%) of A. fumigatus were susceptible to amphotericin B, itraconazole and voriconazole, but only 5/6 (83.3%) A. fumigatus were susceptible to posaconazole. Meanwhile, all three (100%) A. flavus isolates were susceptible to itraconazole. There are no other breakpoints established by the EUCAST for other antifungal-species combinations. In conclusions, Aspergillus niger remains the most commonly isolated species from clinical specimens and Aspergillus isolates at our centre are still largely susceptible to amphotericin B, echinocandins and most azoles. This information is valuable in guiding antifungal therapy in the treatment of aspergillosis.
Intra-articular loose bodies: a clinico-radiological conundrum with distinctive pathological morphologies

Chua TH, Tang YL

Malays J Pathol, 2021 08;43(2):337-338.
PMID: 34448799

No abstract available.
Detection of false positives by incorporation of a confirmatory blocking test into a commercial enzyme-linked immunosorbent assay specific for adenovirus antigen

Kirnpal-Kaur BS, Yap KL, Tan SC

Malays J Pathol, 1997 Dec;19(2):133-6.
PMID: 10879254

A blocking test was incorporated into the commercial IDEIA Adenovirus test (DAKO Diagnostics Ltd., Cambridgeshire, UK) to detect false positive results when faecal specimens were tested for adenovirus antigen. Immune rabbit serum raised against pooled adenovirus particles from human faecal specimens, together with the pre-immune serum, was used. Assessment of positive showed that false positives were produced under two different conditions: when results were based on visual determination instead of a cut-off value determined from photometric reading, and when absorbance values were not immediately read at the end of the test. Under the optimum condition for reading and assessment of test results (immediate reading and photometric determination), 11% of 65 adenovirus-positive samples were checked by the blocking ELISA as false positives. The rest of the specimens showed blocking of positive absorbance values by 70 to 98%. ELISA was found to be more sensitive than immune electron microscopy on samples with lower antigen concentration.
Rotavirus electropherotypes from the Kuala Lumpur Hospital: a re-examination after an interval of seven years

Yap KL, Lim YH, Tan SC

Malays J Pathol, 1998 Jun;20(1):25-30.
PMID: 10879260

The objective of this study was to ascertain the extent changes have occurred in the epidemiology of human rotavirus electropherotypes from the same location 7 to 8 years after an earlier study. Genomic RNA profiles of rotaviruses from diarrhoeic children admitted to the Kuala Lumpur Hospital from April to December 1996 were determined by polyacrylamide gel electrophoresis and silver staining. A total of 179 group A rotaviruses were detected from 870 children: 175 with legible staining of all RNA segments were classified into 14 distinct electropherotypes (10 and 4 with long and short migration patterns respectively). In addition, the results revealed: high predominance of long pattern electropherotypes (94% of the total electropherotypes); most long electropherotypes with RNA profiles which all 11 RNAs migrated separately (8 of 10 electropherotypes); all short electropherotypes had segments 2 and 3 that co-migrated; presence of a very numerically dominant electropherotype (75% of all electropherotypes); frequent co-circulation of the dominant electropherotype-present throughout the study period--with other electropherotypes present for limited periods; sequential temporal appearances by similar electropherotypes. These observations were similar to that of an earlier study conducted in 1988/89. Nevertheless, the dominant electropherotype in the present study was different and not among the electropherotypes detected in the earlier study.
Clinical correlates with immunopathogenesis in dengue haemorrhagic fever/dengue shock syndrome

Tan PS

Malays J Pathol, 1993 Jun;15(1):41-7.
PMID: 8277789
Phyllodes tumours of the breast: retrospective analysis of a University Hospital's experience

Toh YF, Cheah PL, Looi LM, Teoh KH, Tan PH

Malays J Pathol, 2016 Apr;38(1):19-24.
PMID: 27126660

Taking cognizance of the purported variation of phyllodes tumours in Asians compared with Western populations, this study looked at phyllodes tumours of the breast diagnosed at the Department of Pathology, University of Malaya Medical Centre over an 8-year period with regards to patient profiles, tumour parameters, treatment offered and outcome. Sixty-four new cases of phyllodes tumour were diagnosed during the period, however only 30 (21 benign, 4 borderline and 5 malignant) finally qualified for entry into the study. These were followed-up for 4-102 months (average = 41.7 months). Thirteen cases (8 benign, 3 borderline, 2 malignant) were Chinese, 9 (all benign) Malay, 7 (4 benign, 1 borderline, 2 malignant) Indian and 1 (malignant) Indonesian. Prevalence of benign versus combined borderline and malignant phyllodes showed a marginally significant difference (p=0.049) between the Malays and Chinese. Patients' ages ranged from 21-70 years with a mean of 44.9 years with no significant difference in age between benign, borderline or malignant phyllodes tumours. Except for benign phyllodes tumours (mean size = 5.8 cm) being significantly smaller at presentation compared with borderline (mean size = 12.5 cm) and malignant (mean size = 15.8 cm) (p<0.05) tumours, history of previous pregnancy, breast feeding, hormonal contraception and tumour laterality did not differ between the three categories. Family history of breast cancer was noted in 2 cases of benign phyllodes. Local excision was performed in 17 benign, 2 borderline and 3 malignant tumours and mastectomy in 4 benign, 2 borderline and 2 malignant tumours. Surgical clearance was not properly recorded in 10 benign phyllodes tumours. Six benign and all 4 borderline and 5 malignant tumours had clearances of <10 mm. Two benign tumours recurred locally at 15 and 49 months after local excision, however information regarding surgical clearance was not available in both cases. One patient with a malignant tumour developed a radiologically-diagnosed lung nodule 26 months after mastectomy, was given a course of radiotherapy and remained well 8-months following identification of the lung nodule.
ERRATUM: Phyllodes tumours of the breast: retrospective analysis of a University Hospital's experience

Toh YF, Cheah PL, Looi LM, Teoh KH, Tan PH

Malays J Pathol, 2016 08;38(2):175.
PMID: 27568677

No abstract available.
Antenatal screening for hepatitis B in pregnant women

Tan PE

Malays J Pathol, 1988 Aug;10:79-83.
PMID: 3252083
Fulltext Syringocystadenoma papilliferum arising in a naevus sebaceous

Faheem NAA, Kwan Z, Yong ASW, Ch'ng CC, Tan KK, Naicker M, et al.

Malays J Pathol, 2019 Apr;41(1):47-49.
PMID: 31025637

Naevus sebaceus is a cutaneous hamartoma with the potential of developing into benign or malignant neoplasms. Syringocystadenoma papilliferum (SCAP) have been reported to originate from naevus sebaceus. SCAP is a rare, benign adnexal skin tumour of apocrine or eccrine type of differentiation which typically presents as a nodule or a plaque on the scalp or face. We report a case of syringocystadenoma papilliferum arising in an undiagnosed pre-existing naevus sebaceus in a 56-year-old female.
Fulltext Molecular characterisation and frequency of Ggamma Xmn I polymorphism in Chinese and Malay beta-thalassaemia patients in Malaysia

Wong YC, George E, Tan KL, Yap SF, Chan LL, Tan JA

Malays J Pathol, 2006 Jun;28(1):17-21.
PMID: 17694955

The molecular basis of variable phenotypes in P-thalassaemia patients with identical genotypes has been associated with co-inheritance of alpha-thalassaemia and persistence of HbF production in adult life. The Xmn I restriction site at -158 position of the Ggamma-gene is associated with increased expression of the Ggamma-globin gene and higher production of HbF This study aims to determine the frequency of the digammaferent genotypes of the Ggamma Xmn I polymorphism in P-thalassaemia patients in two ethnic groups in Malaysia. Molecular characterisation and frequency of the Ggamma Xmn I polymorphism were studied in fifty-eight Chinese and forty-nine beta-thalassaemia Malay patients by Xmn I digestion after DNA amplification of a 650 bp sequence. The in-house developed technique did not require further purification or concentration of amplified DNA before restriction enzyme digestion. The cheaper Seakem LE agarose was used instead of Nusieve agarose and distinct well separated bands were observed. Genotyping showed that the most frequent genotype observed in the Malaysian Chinese was homozygosity for the absence of the Xmn I site (-/-) (89.7%). In the Malays, heterozygosity of the Xmn I site (+/-) was most common (63.3%). Homozygosity for the Xmn I site (+/+) was absent in the Chinese, but was confirmed in 8.2% of the Malays. The ratio of the (+) allele (presence of the Xmn I site) to the (-) allele (absence of the Xmn I site)) was higher in the Malays (0.66) compared to the Chinese (0.05). The (+/-) and (+/+) genotypes are more commonly observed in the Malays than the Chinese in Malaysia.
Fulltext An immunohistochemical study of Toll-like receptors 2 and 4 in placenta with and without infection

Hayati AR, Mohamed AE, Tan GC

Malays J Pathol, 2010 Jun;32(1):13-9.
PMID: 20614721 MyJurnal

The placenta constitutes a physical and immunological barrier against infectious agents. Toll-like receptors (TLRs) are essential components for the induction of innate immunity responses in different human tissues including the placenta. We investigated the expressions of TLR2 and TLR4 in the decidua and amniotic cells in non-inflamed placenta and placenta with infection.
Virtual meeting in pathology: Time to adapt to the new-norm

Wong YP, Tan GC

Malays J Pathol, 2021 Apr;43(1):1.
PMID: 33903298

No abstract available.
Heterogeneity in studies of p16 in cervical lesions in different Malaysian institutions: Time to consider collaborative study

Naicker MS, Tan GC

Malays J Pathol, 2018 Dec;40(3):319-323.
PMID: 30580363

INTRODUCTION: Clinical decision making becomes difficult when clinical and methodological heterogeneity does not permit synthesis of results of multiple small studies.
AIM: For studies done in Malaysia, to identity the sample sizes and heterogeneity present in the various studies which used p16 in evaluating lesions of the cervix. To evaluate if it would be possible for a single study to answer the various questions posed by the original authors. To highlight areas where the design features of future studies can be optimised.
MATERIALS AND METHODS: Various databases were searched using synonyms for p16 AND cervix AND Malaysia. These were assessed for broad conformity to a Diagnostic Test Accuracy format. Methodological and clinical heterogeneity indicators were extracted into standardised fields.
RESULTS: There were 5 studies eligible for inclusion. Each sought to study different aspects of the disease such as diagnostic grade stratification and pathogenesis. The study type broadly conformed to a Diagnostic Test Accuracy format. The study design used was either consecutive or non-consecutive. Sample size ranged from 75 to 201. Clinical heterogeneity was present in the choice of controls with some using normal and some using inflamed tissue. Methodological heterogeneity in applying the reference test, index test and different antibody clones were present.
CONCLUSION: There was both clinical and methodological heterogeneity making synthesis of studies difficult. It is possible to design a study which would be able to answer all the questions posed by the original authors with internal validity while at the same time increasing sample size.
Primary extragonadal vaginal yolk sac tumour: A case report

Wong YP, Yahaya A, Che Abdul Aziz R, Chia PY, Loh CK, Tan GC

Malays J Pathol, 2020 Aug;42(2):301-305.
PMID: 32860387

INTRODUCTION: Yolk sac tumour (YST) or endodermal sinus tumour is rare and typically seen in gonads.
CASE REPORT: We described a case of extragonadal vaginal YST in a one year and seven months old girl who presented with vaginal discharge and bleeding, and discuss its differential diagnosis and potential pitfalls in immunohistochemistry. She was found to have a suprapubic mass on examination. The serum alpha fetoprotein was 11919.4 ng/mL. Computed tomography of the pelvis revealed a large 6.4 cm heterogenous pelvic mass. Colposcopic examination of the pelvis showed a fungating vaginal mass that was subsequently confirmed as a yolk sac tumour. Immunohistochemically, the malignant cells were positive toward CKAE1/AE3, AFP and glypican-3, as well as CD117.
DISCUSSION: Solid pattern extragonadal vaginal YST may morphologically resemble dysgerminoma that is also CD117 positive, while the glandular pattern YST may have clear cytoplasm and is positive for cytokeratin; hence, may resemble clear cell carcinoma. Being mindful of these potential diagnostic caveats is necessary to prevent misdiagnosis.
Multiple umbilical cord strictures in a case of intrauterine foetal demise

Chew MX, Teoh PY, Wong YP, Tan GC

Malays J Pathol, 2019 Dec;41(3):365-368.
PMID: 31901924

INTRODUCTION: Umbilical cord abnormalities include short cord, long cord, knots, hyper-coiling, hypo-coiling, stricture, single umbilical artery, supernumerary umbilical vessels, cystic and vascular malformation, and abnormal insertion of cord like velamentous and furcate insertions. We report a case of intrauterine death in a fetus with multiple umbilical cord strictures and vascular thrombosis.
CASE REPORT: A 35-year-old woman delivered a stillborn female fetus at 33 weeks of gestation. No fetal anomaly was detected. Examination of the umbilical cord showed multiple strictures, located 4.5 cm and 20 cm from the placental insertion site. Microscopically, the stricture site showed Wharton's jelly being replaced by fibrosis with presence of vascular thrombosis.
DISCUSSION: Umbilical cord stricture is uncommon and has been described to be associated with intrauterine fetal death and a possibility of recurrent. There is a need to counsel the parents and close fetal surveillance in subsequent pregnancy is advise since the risk of recurrent remains uncertain.

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