Mitochondria are eukaryotic cytoplasmic organelles responsible for oxidative phosphorylation. The C to A nucleotide transversion in the NADH dehydrogenase subunit 2 (MT-ND2) coding region of mitochondrial DNA has been reported to be associated with plasma lipid levels, adult onset diseases and longevity. We have examined the role of this polymorphism in relation to plasma lipid levels and age in a total of 713 healthy individuals belonging to 3 ethnic groups in Singapore. The frequency of the A allele was significantly higher (p < 0.05) among the Chinese (0.15) in comparison to the Malays (0.05) and Indians (0.02). No significant difference in the frequency of the allele was observed between healthy and coronary artery disease subjects, and between age-stratified subjects. We found that the polymorphism is significantly associated in an ethnic- and gender-specific manner with plasma apoB levels in the Chinese males (p < 0.05). This is the first epidemiological report of the mt5178 C > A polymorphism and its association with plasma lipid levels in Asian populations outside Japan.
Epidermoid cysts of the central nervous system are described as rare, benign, slow growing lesions with a history of high rate of recurrence even after surgical removal. This lesion is rarely located at the cerebellopontine angle and is found to be composed of solid and cystic components with close adherence to vital neurovascular structures that might complicate its removal. We present a rare case of a twenty-five year old housewife with signs and symptoms of increased intracranial pressure due to the above pathology after multiple episodes of intra-tumoral bleeding. Microneurosurgical techniques were used for tumour dissection and excision. The patient recovered well after a three-year follow-up. This is the fourth example in the index medicus of bleeding seen in a histopathologically proven cerebellopontine angle intraepidermoid cyst.
Breast carcinoma is the most common primary tumor producing intraocular metastasis. Metastases to the iris and ciliary body are relatively rare. The authors report a case of a 61-year-old lady, operated for carcinoma of the left breast 3 years back, who presented with symptoms and signs of acute narrow-angle glaucoma in the right eye. A diffuse whitish plaque-like mass in the upper nasal quadrant of the iris with an episcleral nodule on the limbus in the corresponding area and all the signs of acute narrow-angle glaucoma were present in the right eye. Intraocular pressure was controlled medically. Fine-needle aspiration cytology from the episcleral nodule showed malignant cells. Histopathology of the excised nodule showed metastatic poorly differentiated carcinoma, and the cellular pattern was similar to the carcinoma of the breast. There was no other metastasis anywhere in the body. Fine-needle aspiration cytology from an external lesion of the eye is a less invasive and easier procedure than paracentesis to diagnose the metastatic nature of the lesions. The rare features in our case are the clinical presentation as acute glaucoma and the ocular structures being the first and only site of metastasis.
To investigate RET and p53 expression in local thyroid lesions, in order to shed light on the pathogenesis of papillary carcinoma and explain the high prevalence of this condition among the nodular hyperplasia (multi-nodular goitre) cases.
We report a case of an adult who presented with progressive swelling in the right eye with suggestive of intracranial lesion on imaging. Histopathological revealed a lacrimal gland malignant mixed tumour.
Most previous studies on RET and p53 proteins have focused on thyroid papillary carcinoma. We investigated the role of RET and p53 protein expressions using immunohistochemistry on 52 cases of thyroid follicular adenomas and studied the follow-up records of these patients. The range of follow-up period was 3 to 14 years. The patients were between 15 and 71 years of age with a median age of 34.5 years. There were 46 females and 6 males. Except for 3 cases, all patients were Malays. The minimum volume of the tumour was 1000 mm3 and the maximum was 512,000 mm3 with a median of 270,000 mm3. Eleven (21.2%) cases showed RET expression. RET expression was not statistically significant when cross-tabulated against sex (p = 0.322), ethnicity (p = 0.518), age (p = 0.466) and symptom duration (p = 0.144). Six (11.5%) of 52 cases showed p53 immunopositivity. p53 expressions were also not significantly correlated to the clinical parameters above. There was no correlation between RET and p53 protein expressions. The only statistically significant finding was the association of tumour volume with duration of symptoms (p = 0.05). All patients are alive at the time of writing. 3 had recurrent goitre, 2 of these were diagnosed as colloid goitre while the third was a follicular lesion. One patient suffered from depression requiring anti-depressant treatment. In conclusion, unlike papillary carcinoma in which the roles of ret and p53 oncogenes are known, their roles in influencing the behaviour of follicular adenoma has not been ascertained.
We report a rare case of a giant extradural and intraabdominal ganglioneuroblastoma in a young Malay girl who presented to a paediatrician initially at 5 days of life with a palpable abdominal mass. Unfortunately, the parents refused any form of surgical intervention until the child was 3 years old. She subsequently underwent vascular embolisation followed by the removal of this large tumour both via the abdomen and through a laminectomy approach and subsequently refused chemotherapy. The c-myc amplication in this patient was absent and there were no chromosomal aberrations, During the 2 year folow-up the patient remained well, and ambulatory with no tumour recurrence.
BACKGROUND: Squamous papillary craniopharyngioma is a distinct entity, and its cytologic features may be misleading. Because of the rarity of this tumor, this case is being reported with a note on the cytologic features.
CASE: A 56-year-old Malay man who had 1-month history of generalized lethargy was admitted for altered sensorium. On examination, he was found to have neck stiffness, bilateral papilledema and generalized atrophy of muscles, with reduced power in all limbs. Magnetic resonance imaging of the brain showed a solid mass in the third ventricle causing obstructive hydrocephalus. Intraoperative cytology of the mass diagnosed intraventricular meningioma. However, the final histopathologic examination revealed squamous papillary craniopharyngioma.
CONCLUSION: Craniopharyngioma, squamous papillary type, is a rare entity and usually occurs in adults as an intraventricular solid tumor. Awareness of this entity will aid in arriving at the correct cytologic diagnosis.
Nonchromaffin paragangliomas are unusual tumours arising from widely distributed paraganglionic tissues probably of neural crest origin. In the head and neck region they are usually seen as carotid body or jugulotympanic tumours. Other rarely reported sites in the head and neck region are the orbit, nose and larynx. This report deals with a case of sinonasal paraganglioma which was initially treated with surgery and radiotherapy. Twenty two years later the tumour recurred and showed a rapid growth due to malignant transformation which we believe is late effect of radiotherapy. The clinical features, histopathology and role of radiotherapy in sinonasal paragangliomas together with a review of the medical literature have been discussed.
Recurrent supratentorial extraventricular ependymoma in a four-year-old Malay boy treated twice surgically in combination with cranial radiotherapy is reported. He presented with symptoms of raised intracranial pressure and a history of focal seizure. Computed tomography of the brain showed a left supratentorial extraventricular cystic lesion causing a mass effect. The tumour histology was ependymoma (WHO grade II). The clinical course, radiological characteristics and management of this tumour are discussed. Molecular genetic analysis of p53 and p27 genes revealed substitution of nucleotide G to C at location nucleotide 12139, exon 4 of gene p53. No alteration was detected at exon 5-6 and 8 of p53 gene and exon 1 and 2 of p27 gene.
Rhino-orbito-cerebral mucormycosis is a fungal infection that can be fatal especially in immunocompromised patients. It is extremely rare in immunocompetent individuals. We describe here an immunocompetent patient who survived rhino-orbito-cerebral mucormycosis due to Saksenaea vasiformis, and provide a literature review of this rare entity.
Two rare cases of intractable epilepsy caused by Dysembryoplastic Neuroepithelial Tumours (DNET) are reported and their different management discussed. The first case required vagal nerve stimulation and radiosurgery while the later was operated with the help of neuronavigation. Both had good outcome according to Engel classification after a one year follow up.
The objective of this study was to determine the sensitivity, specificity, positive (PPV), and negative predictive values (NPV) of Diff-Quik-stained gastric imprint cytology smears in the detection of H. pylori compared with histology. Air-dried imprint smears of gastric biopsies from 150 patients were stained by the Diff-Quik method in the endoscopy suite and examined for H. pylori, providing results within minutes. The presence of inflammation and intestinal metaplasia were documented. The same biopsy was processed and stained with H&E and Warthin-Starry stains, and reviewed by a different pathologist blind to the imprint cytology results. Ninety-four of the 150 patients were male with a mean age of 50 years. Based on histology, the H. pylori prevalence was very low at 8%. The sensitivity and specificity of imprint cytology in the detection of H. pylori were 83.3% and 100%, respectively. The PPV and NPV were 100% and 98.6%, respectively. There were two false negatives and no false positives. A combination of imprint cytology and histology achieved 100% sensitivity. Imprint smears did not provide added value over histology with regards to inflammation and metaplasia. Gastric imprint smears stained with Diff-Quik method is a rapid, cheap, and reliable method for the detection of H. pylori and have their best results when complemented with histology.
Kimura's disease (KD) is an uncommon chronic inflammatory condition of unknown aetiology involving subcutaneous tissue, presenting as a tumor like lesion with a predilection for the head and neck region. Clinically it is often confused with parotid tumor with lymph node metastasis. It is difficult to diagnose before tissue biopsy. Fine needle aspiration cytology has only limited value. Unless the pathologists are aware of this entity, it might be misdiagnosed. Surgery, radiotherapy and steroid therapy have been tried but none is proved best and recurrence is common. Three cases of KD seen in our hospital and the problems encountered in them are presented.
We present our preliminary experience in neuropsychological testing in epilepsy surgery patients to demonstrate how these tests contributed to decide the laterality of epileptic focus, and to assess the effect of surgery on patient's cognitive function and quality of life. Preoperative neuropsychological tests consisting of Wechsler Adult Intelligence Scale-III (WAIS) for IQ, Wechsler Memory Scale-III (WMS) for memory and patients' quality of life (QOLIE 31) were administered to refractory epilepsy patients under evaluation for surgical treatment. These tests were repeated one year after surgery and we studied any changes in trends. A total of seven patients were recruited in this study between July 2004 and July 2006. The aetiologies of refractory epilepsy were pure mesial temporal sclerosis (MTS) in five patients, dysembryogenic neuroepithelial tumour (DNET) in one and dual lesion of cavernous angioma with ipsilateral MTS in one. The preoperative neuropsychological tests were all in concordance to MRI finding, and showed good contralateral function; five lateralises to the right and two to the left. The post-operative Engel seizure count (median 8.00, IQR 7.00-8.75), general IQ (88 vs. 79), performance IQ (94 vs. 79), verbal memory (89 vs. 71), non-verbal memory (88 vs. 75) and QOLIE (53.14 vs. 44.71) were better compared to preoperative values. The verbal IQ (84 vs. 84) was unchanged. Neuropsychological tests are useful as ancillary investigations to determine the laterality of seizure focus and integrity of function in the contralateral temporal lobe. Following successful surgical treatment, there is a trend towards improvement in memory, IQ and quality of life scores in this small group of patients.