CASE REPORT: A 69-year-old woman presented with fever and lower limb swelling. She had diabetes mellitus, hypertension, dyslipidaemia and a history of surgical resection of vulvar carcinoma. N. meningitidis was isolated from her blood culture.
DISCUSSION: This report provides additional evidence in support of N. meningitidis as a cause of cellulitis.
CASE REPORT: Her peripheral smear and bone marrow aspirate showed many myeloblasts. Chromosomal study revealed t(8;22;21)(q22;q12;q22) and loss of X chromosome. Fluorescence in situ hybridization (FISH) using whole chromosome painting probes confirmed the three-way translocation involving chromosomes 8, 21 and 22. RUNX1-RUNX1T1 rearrangement was identified in FISH and reverse transcriptase polymerase chain reaction confirming the diagnosis of AML with variant t(8;21). The patient was treated with standard chemotherapy. She achieved morphological remission one month after induction chemotherapy.
DISCUSSION: Although the clinical significance of variant t(8;21) is not well delineated, the evaluation of 31 such cases suggests patients with variant t(8;21) have similar prognosis to those with classical t(8;21).
CASE REPORT: We describe two unusual and diverse incidental adrenal gland lesions, an adenomatoid nodule and a mature ganglioneuroma. Both are deemed 'indeterminate' on radiological assessment. On histology, an adenomatoid nodule is composed of variably-dilated thin-walled cysts lined by bland flattened cells and solid areas of tubules lined by eosinophilic cells with plump nuclei and prominent nucleoli. The lining cells are immunoreactive for calretinin and WT1 while negative for CK5/6, ERG and CD31. Mature ganglioneuroma features fascicles of bland spindle cells with intermixed mature ganglion cells disposed within a background myxoid stroma with no immature neuroblastic component. These spindled Schwann cells are S100 positive.
DISCUSSION: Both adenomatoid nodule and mature ganglioneuroma are rare benign adrenal tumours that need to be differentiated from other, more common adrenal lesions. The management of adrenal incidentalomas is challenging. Surgical excision is indicated if an adrenal incidentaloma is more than 4 cm in size, shows malignant features on imaging or evidence of hormone excess.
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.
CASE REPORT: This is a case report of 19 years old gentleman who presented with fever, lower limb redness, pain and swelling. He was initially treated as cellulitis. However, based on the recovery of Brucella melitensis from his blood culture, he was later diagnosed to have brucellosis. He had a history of consumption of fresh goat's milk and uncooked meat which could have been the possible modes of transmission. Brucella serology IgM and IgG were both positive, and anti-Brucella immunocapture agglutination test (BrucellaCapt) was also positive with a titer of 1:2560. He was treated with six weeks of oral doxycycline 100 mg twice daily and oral rifampin 450 mg twice daily.
DISCUSSION: This is a case of human brucellosis with atypical cutaneous involvement.
CASE REPORT: The patient presented with upper respiratory tract infection, fever, seizures and abdominal pain. An initial diagnosis of encephalitis was made. In view of the unexplained abdominal pain with other clinical findings such as posterior reversible encephalopathy syndrome by CT brain, temporary blindness as well as hyponatraemia, acute intermittent porphyria was suspected. Urine delta aminolaevulinic acid (δ-ALA) and porphobilinogen were elevated confirming the diagnosis of AIP. Genetic studies were done for this patient. The patient had a complete resolution of her symptoms with carbohydrate loading and high caloric diet.
CONCLUSION: Although rare, AIP should be considered as a cause of hyponatraemia in a patient who presents with signs and/or symptoms that are characteristic of this disease.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.