Displaying publications 161 - 180 of 822 in total

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  1. Rashid RA, Ankathil R
    Malays J Pathol, 2020 Aug;42(2):171-185.
    PMID: 32860369
    Gene therapy is a method of treatment of disease aimed at its molecular level. The progress of gene therapy, however, was as promising as it was tardy mainly due to the limitations in the resources and financial part of its development as well as owing to the rarity of most diseases it can offer its benefits to. The methods of gene therapy can vary depending on factors such as the physiology of tissue of interest, affinity of vectors to a certain type of cells, depth and accessibility of the tissue of interest, and size of the gene to be replaced or edited. The concept behind gene therapy has inspired scientists and clinicians alike leading to a rapid expansion of its clinical utility that has become so widespread to not only include diseases of monogenic origin, but also polygenic diseases, albeit not so commonly. This article delves into notable success stories of gene therapy which has been regarded as the beacon of medical novelty expected to blossom in the near future to provide a holistic, targeted, precise, and individualistic personalised-medicine as well as laying out the future hopes of gene therapy in the treatment of debilitating diseases such as solid tumours, AIDS, Tuberculosis, Diabetes Mellitus, psychiatric illnesses, which are still at a standstill, from a gene therapy point of view.
  2. Othman H, Abu Yamin AH, Md Isa N, Bahadzor B, Syed Zakaria SZ
    Malays J Pathol, 2020 Aug;42(2):209-214.
    PMID: 32860373
    INTRODUCTION: Prostate health index (PHI) has been shown to have better diagnostic accuracy in predicting prostate cancer (PCa) in men with total prostate-specific antigen (PSA) levels between 4-10ng/ml. However, little is known of its value in men with elevated PSA beyond this range. This study aimed to evaluate the diagnostic performance of PHI in Malaysian men with elevated PSA values ≤ 20ng/ml.

    MATERIALS AND METHODS: From March 2015 to August 2016, all men consecutively undergoing transrectal ultrasound (TRUS)-guided prostate biopsy with total PSA values ≤ 20ng/ ml were recruited. Blood samples were taken immediately before undergoing prostate biopsy. The performance of total PSA, %fPSA, %p2PSA and PHI in determining the presence of PCa on prostate biopsy were compared.

    RESULTS: PCa was diagnosed in 25 of 84 patients (29.7%). %p2PSA and PHI values were significantly higher (p<0.05) in patients with PCa than those without PCa. The areas under the receiver operating characteristic curves for total PSA, %fPSA, %p2PSA and PHI were 0.558, 0.560, 0.734 and 0.746, respectively. At 90% sensitivity, the specificity of PHI (42.4%) was five times better than total PSA (8.5%) and two times better than %fPSA (20.3%). By utilising PHI cut-off >22.52, 27 of 84 (32.1%) patients could have avoided undergoing biopsy.

    CONCLUSION: Findings of our study support the potential clinical effectiveness of PHI in predicting PCa in a wider concentration range of total PSA up to 20ng/ml.

  3. Chen SW, Chang ST, Hsieh YC, Kuo CC, Wu HC, Feng YH, et al.
    Malays J Pathol, 2020 Aug;42(2):237-243.
    PMID: 32860376
    INTRODUCTION: Follicular lymphoma (FL) is usually a nodal lymphoma expressing CD10, rarely with leukaemic presentation (FL-LP).

    MATERIALS AND METHODS: We searched for FL-LP in our institution from 2000 to 2018 and characterised the neoplastic cells by flow cytometry, immunohistochemistry and fluorescence in situ hybridization. Thirteen (6.1%) of 212 FL cases were FL-LP, all de novo neoplasms. The leukaemic cells were small in 12 cases and large in one. All had concurrent FL, mostly (92%; 12/13) low-grade. The single case with large leukaemic cells had a concurrent primary splenic low-grade FL and a double-hit large B-cell lymphoma in the marrow.

    RESULTS: CD10 was expressed in the leukaemic cells in 38% (5/13) cases by flow cytometry and in 77% (10/13) cases in tumours (p= 0.0471). IGH/BCL2 reciprocal translocation was identified in 85% (11/13) cases. Most patients were treated with chemotherapy. In a median follow-up time of 36 months, nine patients were in complete remission. The 2- and 5-year survival rates were at 100% and 83%, respectively. In this study, we characterised a series of de novo FL-LP in Taiwan. All patients had concurrent nodal and/or tissue tumours, which might suggest that these patients seek medical help too late.

    CONCLUSION: The lower CD10 expression rate by flow cytometry than by immunohistochemistry might be due to different epitopes for these assays. Alternatively, loss of CD10 expression might play a role in the pathogenesis of leukaemic change. The clinical course of FL-LP could be aggressive, but a significant proportion of the patients obtained complete remission with chemotherapy.

  4. Mohamed Zainuddin N, Sthaneshwar P, Ratnasingam J
    Malays J Pathol, 2020 Aug;42(2):203-207.
    PMID: 32860372
    INTRODUCTION: Phaeochromocytoma may present with uncontrolled hypertension leading to haemorrhagic stroke (HS), ischaemic stroke (IS) and transient ischaemic attack (TIA). False elevation in the levels of CATS/ METS has been reported in acute cerebrovascular disease. Our aim was to analyse the frequency and pattern of elevations of CATS/METS in patients with acute cerebrovascular disease and to determine associated factors.

    MATERIALS AND METHODS: This is a retrospective study of 112 samples of CATS/ METS received by the laboratory over a two-year period, from patients with acute cerebrovascular disease. CATS/METS were measured using LC/MS/MS method. Clinical details and CATS/METS level were obtained from the database. Mann-Whitney U test and Kruskal Wallis test were used for statistical analysis. These statistical analyses were performed using SPSS v.20.0 (IBM Corp., Armonk, NY, USA).

    RESULTS: Of the 112 patients, 39% had HS, 54% had IS and 7% had TIA. A total of 29% of patients had elevated CATS/ METS. Elevated levels of CATS/METS were noted in 41% and 25% of HS and IS patients, respectively (p=0.53). Median norepinephrine, epinephrine and metanephrine levels in HS were significantly higher than IS (p< 0.05). Systolic blood pressure was higher in those who had elevated CATS/ METS (p=0.04). Only for two patients with elevated CATS/METS repeat testing was performed. Age, diastolic blood pressure and the time of sample collection in relation to the presentation, for CATS/METS were not significantly different between groups that had elevated levels of CATS/ METS versus those who did not.

    CONCLUSION: We noted that CATS/METS were elevated in one-third of patients, especially in patients with high systolic blood pressure. Increase in CATS/METS should be appropriately followed up with repeat testing. Since false elevation in CATS/METS has been reported in cerebrovascular disease, screening for phaeochromocytoma is best deferred for a month.

  5. Wong RSY, Cheong SK
    Malays J Pathol, 2020 Aug;42(2):157-170.
    PMID: 32860368
    The commonest cause of dementia among the elderly population is Alzheimer's disease (AD). It is a health concern globally as the number of people affected by dementia worldwide is rapidly increasing. Several genes have been linked to AD and the pathogenesis of the disease has been extensively and vigorously examined. Thus far, only a few drugs have been approved by the Food and Drug Administration (FDA) for the pharmacological treatment of AD and a growing body of research has turned to alternative options such as stem cell therapy. This review will give an overview of the pathological and clinical aspects of AD. Although researchers have explored the suitability and feasibility of using various types of stems cells to treat AD, this review will focus mainly on neural stem cells (NSCs)/ neural progenitor cells (NPCs). The behaviour and properties of NSCs will be described, accompanied by a comprehensive discussion of the therapeutic strategies involving the use of NSCs/NPCs in the treatment of the disease.
  6. Wong YP, Tan GC, Muhammad R, Rajadurai P
    Malays J Pathol, 2020 Apr;42(1):151-155.
    PMID: 32342946
    INTRODUCTION: Occult primary breast carcinoma (OBC) manifesting as axillary nodal metastasis without an identifiable breast primary is exceptionally rare. It continues to pose a diagnostic challenge to pathologists. Here, we report a case of OBC with emphasis on the usefulness of immunohistochemistry to determine the primary site of tumour.

    CASE REPORT: A 58-year-old female presented with a 3-cm painless right axillary mass. Extensive radiological investigations that include mammography, ultrasonography of the breasts and positron emission tomography (PET) scan failed to conclude the primary site of the tumour. Histological examination of the lymph node revealed loosely cohesive sheets of poorly differentiated malignant cells, without discernible glandular or squamous differentiation. Immunohistochemically, the malignant cells exhibited diffuse immunoreactivity toward pan-cytokeratin and CK7, while leukocyte common antigen, S100 and CK20 were negative. A second panel of immunomarkers was carried out. The malignant cells expressed breast-specific markers (GATA-3, GCDFP-15 and mammaglobin), and were negative for ER, PR and TTF-1 immunohistochemistry. A diagnosis of OBC was rendered.

    DISCUSSION: Breast primary must always be considered in the differential diagnosis in patients with sole presentation of axillary lymphadenopathy. The breast-specific immunomarkers play a pivotal role in the diagnosis of ER, PR-negative occult breast cancer.

  7. Nyunt WWT, Abdul Jalil D, Zakariah NA, Abdul Karim N, Mohd Idris MR, Nasuruddin DN, et al.
    Malays J Pathol, 2020 Apr;42(1):143-150.
    PMID: 32342945
    INTRODUCTION: Plasma cell leukaemia (PCL) is a rare variant of multiple myeloma. We report a case of PCL to demonstrate the clonal evolution, resulting in disease relapse after achieving complete remission, and its aggressive nature of the disease, leading to poor clinical outcome.

    CASE REPORT: A 69-year-old man presented with a three-day-history of worsening generalized body weakness, poor oral intake, nausea, significant loss of weight and lower back pain. He was diagnosed as primary PCL, based on hypercalcaemia, renal insufficiency, anaemia, thrombocytopenia, lytic bone lesions, 24% abnormal plasma cells in peripheral blood, immunophenotype of clonal plasma cells which were positive for CD38, CD138 and CD56 markers with kappa light chain restriction, 49% abnormal plasma cells in bone marrow, monoclonal paraprotein (IgG kappa) in serum and urine, and positive IGH rearrangement (Fluorescence in-situ hybridisation, FISH). He achieved complete remission after four cycles of Bortezomib-based therapy. There was a plan for high-dose therapy plus autologous haematopoietic cell transplantation. A month later, the disease relapsed, as evidenced by 94% abnormal plasma cells in his bone marrow aspirate, complex karyotype and abnormal FISH results. He passed away a few days later, from severe septicaemia. Time-to-progression of disease was 1 month and overall survival was 5 months.

    DISCUSSION: This case report illustrates the clonal evolution and aggressive nature of primary PCL with older age at presentation, leading to a shorter duration of remission and overall survival.

  8. Ramachandran M, Loi B, Mat Ariff N, Ng OC, Zahari Sham SY, Thambiah SC, et al.
    Malays J Pathol, 2020 Apr;42(1):71-76.
    PMID: 32342933
    INTRODUCTION: Metformin is the first-line pharmacological therapy for type 2 diabetes mellitus (T2DM). Guidelines recommend metformin to be given at reduced dosages for those with an estimated glomerular filtration rate (eGFR) <60 mL/min/1.73m2 and omitted in those with eGFR<30 mL/min/1.73m2. Lactic acidosis is a known complication of those on metformin. This study aimed to determine the appropriateness of metformin prescription in T2DM patients with chronic kidney disease (CKD) stages 3-5 in a tertiary centre in Malaysia.

    MATERIALS AND METHODS: A cross-sectional design using retrospective secondary data of T2DM patients on metformin attending nephrology and diabetic clinics in the year 2017. eGFR calculated using the CKD-EPI formula identified those in CKD stage 3-5 defined using the National Kidney Foundation-Kidney Disease Outcomes Quality Initiative criteria. Metformin prescription was considered appropriate when the metformin maximum daily dosage does not exceed 1500 mg in CKD stage 3a and 1000 mg in CKD stage 3b and metformin stopped in CKD stages 4 and 5.

    RESULTS: A total of 143 patients were included. Majority were in the elderly age group (62.9%), male (60.8%) and had concurrent hypertension (85.3%). Median HbA1c was 8.3% (67 mmol/mol) with most patients (88.8%) having HbA1c above 6.5% (48 mmol/ mol). Majority (92.3%) were categorised as stage 3 CKD. Eleven (7.7%) subjects had inappropriate metformin prescription. Seven of nine (78%) subjects in CKD stage 4 were on metformin with a maximum daily dose of 500 mg to1000 mg. Three patients had serum lactate measured.

    CONCLUSION: The majority of CKD patients had appropriate metformin prescription. However, a considerable number of CKD stage 4 patients continued to be on metformin. The many benefits of metformin may be a reason why it is still continued against recommendations. Only three patients had lactate measured which, although may suggest that lactic acidosis is not a common occurrence, the potential for metformin-associated lactic acidosis especially in those at risk should be considered.

  9. Rahimi R, Mohd Kasim NA, Zainun KA, Mohamad A' Azizan NA, Mansor MA, Ahmad Kamal NS, et al.
    Malays J Pathol, 2020 Apr;42(1):65-70.
    PMID: 32342932
    INTRODUCTION: Homicide is the act of killing one human being by another, encompassing death as a result of criminal act including justifiable homicide such as judicial killing and self-defence. This study aimed to ascertain the epidemiology and patterns of injury of homicide victims.

    MATERIALS AND METHODS: We reviewed records of medico-legal autopsy cases performed at the Department of Forensic Medicine, Hospital Sungai Buloh, for a period of five years, from January 2012 until December 2016. Subjects' demographic data such as age, gender, nationality, ethnicity and cause of death were recorded.

    RESULTS: A total of 122 homicide cases were documented. 90% of the victims were 18 to 65 years old. Males contributed 80% of the subjects. An alarming 42% of the subjects comprised of non-Malaysians. Indonesian subjects contributed one-third of the non-citizen category, followed by Bangladeshis at 20.4%. Other nationalities were Burmese, Nepalese, Pakistani, Vietnamese and unspecified. Among Malaysians, 50% of the subjects were Indians, followed by Malay (31.5%) and Chinese (17.8%). Sharp and blunt force traumas were the most common injuries found, contributing 33% and 32% respectively. Asphyxiation and firearm injuries recorded an almost similar frequency, contributing 25% in combination. Other patterns included combined sharp and blunt objects (4.9%) and burns (3%).

    CONCLUSIONS: A large number of immigrants in the country have significantly increased the forensic casework. Sharp and blunt objects continue to be the weapon of choice due to its easy accessibility. As domestic violence including fatal spousal and child abuse continue to rise, in-depth study in the area is warranted.

  10. Zhao Z, Takano A, Lim AST, Lim TH, Selvarajan S
    Malays J Pathol, 2020 Apr;42(1):115-119.
    PMID: 32342940
    INTRODUCTION: Alveolar rhabdomyosarcoma (RMS) usually occurs in adolescents and young adults, and most frequently arises in the extremities.

    CASE REPORT: We present a rare case of metastatic alveolar RMS from a nasal primary to cervical lymph nodes (LNs) in an elderly patient, diagnosed on the fine-needle aspiration (FNA) biopsy. Smears showed malignant round cells featuring focal rhabdoid appearance, with rhabdomyoblastic differentiation further supported by immunocytochemical stains. Diagnosis of alveolar RMS was confirmed by fluorescence in situ hybridization (FISH) identifying FOXO1 gene involvement with dual colour break-apart probes at locus 13q14.

    DISCUSSION: The differential diagnosis for a small round blue cell tumour in the elderly generally includes metastatic small cell carcinoma, lymphoma, malignant melanoma, RMS, desmoplastic small round cell tumour and Ewing's sarcoma/primitive neuroectodermal tumour. Subtle morphological analysis and expression pattern of immunostaining for skeletal muscle differentiation led to the diagnosis of RMS. Cytogenetic testing on the FOXO1 gene rearrangement helps definite subtyping of alveolar RMS.

  11. Bakrin IH, Rajaintharan PS, Tawil Z, Mahayidin H
    Malays J Pathol, 2020 Apr;42(1):111-114.
    PMID: 32342939
    INTRODUCTION: Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a recently described adnexal tumour with a predilection for the face particularly the eye-lids. Considered to be a precursor lesion of mucinous adenocarcinoma, it may represent part of a morphological spectrum. We described a case of this entity, which we believe is the first case to be reported in Malaysia.

    CASE REPORT: A 59-year-old Chinese male presented with a slow-growing cystic lesion over the left lower lateral canthal region. The lesion became progressively larger and nodular within the last 6 months. Histologically, the lesion is a well-circumscribed intradermal tumour with pushing borders extending into the subcutaneous tissue. The tumour cells were arranged in lobules of solid, papillary and cribriform architecture. The cells displayed uniform, medium-sized, round to oval nuclei with stippled chromatin pattern and ample eosinophilic granular cytoplasm. Intracellular mucin (as highlighted by mucicarmine stain) was observed in areas with focal extracellular mucin seen. Mitotic figures were not particularly impressive. By immunohistochemistry study, the tumour cells expressed ER, PR, CK7, GCDFP-15, mammaglobin and EMA diffusely. Chromogranin A and synaptophysin highlighted a significant number of tumour cells.

    DISCUSSION: The morphology and immunohistochemical profile similarities between EMPSGC and solid papillary carcinoma of the breast (SPCOTB) makes the former considered as the cutaneous analogue of the latter. In fact, one should rule out the possibility of metastatic SPCOTB before considering the diagnosis of EMPSGC.

  12. Mohamed NA, Mansur FAF, Abdul Rahman N
    Malays J Pathol, 2020 Apr;42(1):107-110.
    PMID: 32342938
    INTRODUCTION: Malaysia declared its intent to eliminate malaria by 2020, with a phased goal of achieving zero local transmission. Nonetheless, Malaysia is highl susceptible to malaria importation due to geographical proximity to high-burden countries e.g. Thailand, Myanmar and high influx of foreign workers and students from Asia and Africa.

    CASE SERIES: We accumulated all malaria cases diagnosed in a tertiary hospital within a period of two years. Three cases were reported, where all of the patients were foreigners with recent travel history to African countries. All of them were infected by P. falciparum, responded to treatment and discharged well.

    DISCUSSION: This case series highlighted the importance of acquiring recent travel history during history taking and having a high index of suspicions on malaria when dealing with feverish patients originated particularly from African countries.

  13. Chng KL, Lai PS, Siew SF, Md Yaro SW, Mahmood MS
    Malays J Pathol, 2020 Apr;42(1):99-105.
    PMID: 32342937
    INTRODUCTION: Methanol is a widely available chemical with a range of uses including as solvent, as a fuel, in chemical synthesis and anti-freeze preparations. Most of the cases are accidental exposures to drinking beverages contaminated with methanol.

    MATERIALS AND METHODS: In mid-September 2018, there was a single outbreak of methanol poisoning in Malaysia especially involving the state of Federal Territory Kuala Lumpur and Selangor. There were 33 reported deaths suspected due to methanol poisoning in this current outbreak where 11 of them were brought in to the Institute of Forensic Medicine (NIFM), Kuala Lumpur. The last outbreak was in the year 2013 with 29 deaths reported out of 44 cases.

    RESULTS: There were 3 cases (27.2%) died in hospital and the remaining 8 cases (72.8%) were found dead at home and were later brought in dead to the hospital. A full autopsy was carried out for each case. Autopsy findings, as well as lab results pertaining to cases that survived and directly brought in dead, were of a different spectrum.

    CONCLUSION: Methanol related deaths are almost always as a result of greed. The running truism is 'methanol poisoning is a result of deliberate addition/adulteration with industrial methanol'. Prevention of the illegal production of methanol and methylated spirits should be established to curb this matter in the future.

  14. Tan GC, Wong YP, Cui W, Dibb N
    Malays J Pathol, 2020 Apr;42(1):91-97.
    PMID: 32342936
    INTRODUCTION: The polycistronic miR-302 cluster encodes five miRNA genes that have an important role in the regulation of embryonic stem cell function. Studies showed that the miR-302 cluster can reprogram both mouse and human fibroblasts to induced pluripotent stem cells (iPSCs) with high efficiency. The aim of this study was to generate an inducible lentivirus that expresses miR-302 cluster in order to further investigate somatic cell reprogramming by these miRNAs.

    MATERIALS AND METHODS: The miR-302 cluster was amplified by polymerase chain reaction technique from human genomic DNA and was ligated into pTRIPz, an inducible lentiviral vector.

    RESULTS: MRC5 fibroblasts and HEK293 (human embryonic kidney) cells were infected with pTRIPz-302 cluster lentivirus and the family of 302 miRNAs were strongly expressed in HEK293 cells but lowly expressed in MRC5 fibroblasts. When cultured in hESC conditions, MRC5 cells expressed only low levels of DNMT3B, Nanog, Oct4 and Lin28 and failed to show stem cell induction. The red fluorescent expression seen in the majority of MRC5 cells, indicated that the rate of infection by lentivirus was efficient.

    DISCUSSION: The efficiency of reprogramming may be improved perhaps by either using a different cell type or a high expression vector with a different type of promoter.

  15. Saenz-Ibarra B, Ceceñas-Falcon LA, Cardenas-De la Garza JA, Garza-Elizondo MA, De Hoyos R, Dieste M, et al.
    Malays J Pathol, 2020 Apr;42(1):137-141.
    PMID: 32342944
    INTRODUCTION: Eosinophilic angiocentric fibrosis (EAF) is a rare lesion that predominantly affects the upper respiratory tract. Its etiology is unknown and it has been recently associated with the IgG4- related disease (IgG4-RD) spectrum. To the author's knowledge, this is the sixth case report of the relationship between EAF and IgG4-RD.

    CASE REPORT: We report the case of a 37-year-old woman with nasal deformity and facial pain. The lesion was surgically excised. Histological examination revealed features of EAF with an IgG4/IgG plasma cell ratio ≷73% and 31 IgG4 stained cells per high power field. No clinical or radiological recurrence was detected during follow-up. Serum IgG4 quantification one year after surgery was within normal limits.

    DISCUSSION: The relationship between both entities may have therapeutic impact because IgG4-RD of the head and neck has a high remission rate with corticosteroids and immunosuppressive therapy. Additional reports of this infrequent disease are necessary to elucidate appropriate treatment and prognosis.

  16. Ng YF, Chow CY, Yang WS, Lye WC, Loh HL
    Malays J Pathol, 2020 Apr;42(1):131-135.
    PMID: 32342943
    INTRODUCTION: Collagenofibrotic glomerulopathy or collagen type-III glomerulopathy is a rare glomerular disease characterised by the deposition of type III collagen fibres in the subendothelial space and mesangium of the glomerulus.

    CASE REPORT: Here, we present a case of collagenofibrotic glomerulopathy in a 49-year-old Indian female, the first to be reported from Singapore. Renal biopsy showed PAS (periodic acid-Schiff), silver and Congo red negative, amorphous extracellular material that expanded mesangial and subendothelial regions. Such materials were strongly positive for anti-collagen III immunofluorescent staining. Under electron microscopy, the mesangial and some subendothelial regions were greatly expanded by abundant collagen fibres which were different from normal collagen III fibres in both appearance and periodicity.

    DISCUSSION: The availability of past renal biopsies for reference offered insight into disease progression. From the initial diagnosis of focal segmental glomerulosclerosis to eventually collagenofibrotic glomerulopathy over a time span of more than 10 years, this case highlights the gradual accumulation of collagen fibres in the glomeruli before classical features are apparent. It also emphasises the importance of electron microscopy in the diagnosis of this disease.

  17. Awi NJ, Armon S, Peh KB, Peh SC, Teow SY
    Malays J Pathol, 2020 Apr;42(1):85-90.
    PMID: 32342935
    INTRODUCTION: Autophagy is a mechanism that degrades large damaged organelles and misfolded proteins to maintain the homeostasis in all cells. It plays double-faceted roles in tumourigenesis and prevention of various cancers. In our side observation of investigating the prognostic value of autophagy in colorectal cancer (CRC), we found high expression of autophagy proteins (LC3A, LC3B, and p62/SQSTM1) in the colonic ganglion cells. To our best understanding, this is the first paper reporting such finding.

    MATERIALS AND METHODS: Formalin-fixed paraffin-embedded (FFPE) CRC tissues blocks were retrieved and confirmed by haematoxylin & eosin (H&E) staining. Immunohistochemistry (IHC) targeting autophagy proteins (LC3A, LC3B, and p62/SQSTM1) was then performed followed by pathological examination.

    RESULTS: All three autophagy proteins were present in both normal and tumour tissues of CRC patients. Interestingly, high expression of autophagy proteins in colonic ganglion cells was consistently seen regardless of tissue type (normal or cancer) or tumour site (caecum, ascending, transverse, descending, sigmoid colon and rectum).

    CONCLUSIONS: This work highlights the high autophagic activities in human colonic ganglion cells.

  18. Zakariah NA, Bajuri MY, Hassan R, Ismail Z, Md Mansor M, Othman H, et al.
    Malays J Pathol, 2020 Apr;42(1):77-84.
    PMID: 32342934
    INTRODUCTION: Procalcitonin (PCT) has recently emerged as a marker for diagnosing infection. This study aimed to compare the performance of PCT and other infection markers in diagnosing infected diabetic foot ulcer (IDFU).

    MATERIALS AND METHODS: A total of 128 diabetic patients with foot ulcers were recruited and divided into two groups, consisting of 73 patients in the IDFU group and 55 in the non-infected diabetic foot ulcer (NIDFU). The severity of infection in IDFU patients was graded based on the Infectious Disease Society of America-International Working Group on the Diabetic Foot classification. Blood samples from all the patients were collected for measurement of PCT, high sensitivity C-reactive protein (hs-CRP) and white cell count (WBC). The area under the receiver operating curves (AUC) were then constructed and analysed.

    RESULTS: PCT, hs-CRP and WBC levels were significantly higher in the IDFU group compared to NIDFU with hs-CRP demonstrated the highest AUC (0.91; p <0.001) followed by PCT (0.814; p < 0.001) and lastly WBC (0.775; p < 0.001). The best cut off value, sensitivity and specificity for the presence of infection in diabetic foot, were 3.47 mg/dL, 80% and 89% for hs-CRP, 0.11 ng/ml, 70% and 87% for PCT and 11.8x109/L, 60% and 90% for WBC. All the infection markers showed significant positive correlations with infection severity of DFU.

    CONCLUSION: This study showed that hs-CRP is a more sensitive marker for diagnosing IDFU. Although PCT is useful in differentiating IDFU from NIDFU, the use of PCT is not necessary as it adds little value to the current practice.

  19. Tay Za K, Jackson N, Chin EFM
    Malays J Pathol, 2020 Apr;42(1):127-130.
    PMID: 32342942
    A 57-year-old man presented with intermittent fever and bleeding following dental surgery. Peripheral smear and bone marrow aspirate exhibited unusually large and bizarre-looking abnormal cells which were found to be myeloblasts with aberrant CD56 and CD2 expression on immunophenotyping. Fluorescence in situ hybridization analysis revealed an extra RARA gene rearrangement. This finding correlated well with a near-tetraploid karyotype with double t(15;17)(q22;q21). Bcr-3 type PML/ RARA copies were identified in reverse transcriptase-polymerase chain reaction. The diagnosis of near-tetraploid acute promyelocytic leukaemia (APML) was established. The patient was treated with all-trans retinoic acid and idarubicin and six weeks later achieved complete remission. Tetraploid/ near-tetraploid APML is exceedingly rare. It is a distinct cytogenetic subgroup with unique clinical and biological features as highlighted by atypical morphology, frequent CD2 expression and association with the bcr-3 type PML/RARA fusion transcripts. Early recognition of this rare entity is essential for timely and appropriate treatment.
  20. Tuan Sharif SE, Alzallal O, Wan Ismail WF, Md Zin RR
    Malays J Pathol, 2020 Apr;42(1):121-125.
    PMID: 32342941
    INTRODUCTION: Sarcomas of the Ewing family of tumours are aggressive neoplasms occurring in bone and soft tissue of mostly children and young adults. It usually affects male more than female with peak incidence 10 to 15 years of age, and rarely encountered in adults especially in more than 40 years old. It is an aggressive, rare tumour with a tendency toward recurrence after resection and early metastasis.

    CASE REPORT: We reported a rare case of Ewing Sarcoma in a 62-year-old woman who had an unusual clinical presentation. She had right painless buttock swelling only for a month. Magnetic resonance imaging (MRI) revealed soft tissue sarcoma originated from right gluteal muscle. The diagnosis of Ewing sarcoma (ES) was made in a limited diagnostic material in an initial tru-cut biopsy, followed by an excision supported by immunohistochemistry (IHC) and Fluorescent In-Situ Hybridization (FISH).

    DISCUSSION: The purpose of this study is to document ES in an adult woman and its diagnostic challenges in histopathologic perspective.

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