Multiple endocrine neoplasia type 2B in a Chinese patient

Multiple endocrine neoplasia type 2B syndrome is rarely reported in Chinese patients. A 25-year-old Chinese male presented with full-blown clinical features of this syndrome, including bilateral phaeochromocytomas, medullary thyroid carcinoma, and characteristic phenotypic features. One-stage surgical treatment was performed and subsequent genetic analysis confirmed a point mutation at codon 918 in exon 16 of the RET proto-oncogene. The mutation was arising de novo as there was no corresponding mutation found in both this parents or younger sister. Data published to date suggest there is no difference in the genetic and pathophysiologic basis, nor clinical characteristics of multiple endocrine neoplasia type 2B in Chinese patients. As the disease can be lethal, early diagnosis by prompt recognition of the characteristic phenotypic features followed by surgical treatment should improve the outcome. Family screening is essential to identify at-risk family members for prophylactic treatment.published_or_final_versio

Resection of phaeochromocytoma extending into the right atrium in a patient with multiple endocrine neoplasia type 2A

We report the first case of successful surgical resection of a malignant phaeochromocytoma with tumour extension into vena cava and right atrium in a patient with multiple endocrine neoplasia type 2A. A 21-year-old woman with genetic confirmation of multiple endocrine neoplasia type 2A syndrome was diagnosed with a very rare case of malignant phaeochromocytoma with tumour thrombus extension into vena cava and right atrium causing Budd-Chiari syndrome. It posed a challenge to the surgeons with regard to complete tumour resection and vascular control. Reviewing the limited literature, surgical resection by means of cardiopulmonary bypass with hypothermic circulatory arrest has been reported with success in phaeochromocytoma with advance vascular involvement. Adopting this approach, adrenalectomy with complete thrombus excision by inferior vena cava exploration and right atriotomy were performed successfully by a multidisciplinary team.published_or_final_versio

The clinicopathological features and importance of p53, Rb, and mdm2 expression in phaeochromocytomas and paragangliomas

Aims - Phaeochromocytomas and paragangliomas are uncommon. The aims of this study were to analyse the characteristics and the possible roles of p53, Rb, and mdm2 alterations in these tumours. Methods - The clinicopathological features of 65 patients (31 men, 34 women) with phaeochromocytomas or paragangliomas were analysed. The tumours were studied for the expression of p53, Rb, and mdm2 by immunohistochemical methods. Results - Thirty nine of the patients had phaeochromocytomas and 26 had paragangliomas. Bilateral tumours were noted in eight of the patients and malignant tumours were seen in 13. Paragangliomas were often small, non-functional, and presented incidentally, whereas phaeochromocytomas were usually large, functional, and symptomatic, p53 overexpression, loss of Rb expression, and mdm2 overexpression were seen in four, 43, and 37 of the patients, respectively. Three of the four patients with p53 overexpression had bilateral tumours. Loss of Rb expression was often found in phaeochromocytomas, whereas mdm2 overexpression was more frequently seen in paragangliomas. The 10 year survival rate of patients with malignant tumours was 45%. Two patients died of tumour metastases more than 10 years after resection of the primary tumours. Conclusions - Phaeochromocytomas and paragangliomas had distinctive clinical features and genetic alterations. The prognosis of patients with these tumours was related to the malignant potential, p53 overexpression, more common in bilateral phaeochromocytomas and paragangliomas, could be a marker for this tumour subgroup.published_or_final_versio

High-sensitivity C-reactive protein and other inflammatory markers in predicting cardiovascular risk in Hong Kong Chinese

Poster PresentationINTRODUCTION: Inflammation is increasingly recognised as a key player in atherosclerosis, and C-reactive protein measured using high-sensitivity assay (hsCRP) is the most promising inflammatory marker in predicting the risk of cardiovascular diseases (CVD). In this prospective cohort study, we examined the predictive value of hsCRP for CVD in Hong Kong Chinese and determined if other biomarkers would enhance the predictive value of hsCRP. METHODS: Subjects were recruited from the Hong Kong Cardiovascular Risk Factors Prevalence Study …published_or_final_versionThe 16th Medical Research Conference, The University of Hong Kong, Hong Kong, 22 January 2011. In Hong Kong Medical Journal, 2011, v. 17 suppl. 1, p. 66, abstract no. 11

Prophylactic thyroidectomy in ethnic Chinese patients with multiple endocrine neoplasia type 2A syndrome after the introduction of genetic testing

Objective: To evaluate the impact of genetic testing in the management of familial multiple endocrine neoplasia 2A patients. Design: Retrospective study. Setting: University teaching hospital, Hong Kong. Patients: Twenty-two patients from eight multiple endocrine neoplasia 2A families underwent prophylactic total thyroidectomy based on a positive RET mutation genetic testing. All mutations were located at codon 634 of exon 11. Nineteen patients had preoperative basal serum calcitonin measured, and the 12 with normal levels had pentagastrin stimulation tests. Preoperative thyroid ultrasound examination was performed for 17 patients. Results: There were 13 females and 9 males with a median age of 25.1 (range, 6.1-71.9) years. Histopathology revealed medullary thyroid carcinoma in 17 (77%), C-cell hyperplasia in four (18%), and normal pathology in one (5%) of the patients. Five patients with either C-cell hyperplasia or normal pathology were among the youngest (age range, 6-9 years). The youngest patient with medullary thyroid carcinoma was nearly 9 years old. The median size of medullary thyroid carcinomas was 8.3 (range, 0.1-18) mm, but there were no lymph node metastases. Of 15 patients with normal basal calcitonin levels, 10 had medullary thyroid carcinoma, though two tested negative with the pentagastrinstimulated calcitonin assay. Five of six patients with normal preoperative ultrasonographic examinations had medullary thyroid carcinoma. Three (14%) of the patients were prescribed long-term calcium and vitamin D supplementation. After a median follow-up of 49 (range, 13-128) months, no patient had recurrence of medullary thyroid carcinoma. Conclusions: Genetic testing has replaced conventional biochemical and radiological modalities to identifying multiple endocrine neoplasia 2A carriers, in order to offer them prophylactic thyroidectomy. Chinese multiple endocrine neoplasia 2A patients with codon 634 mutation seem to have less aggressive forms of medullary thyroid carcinoma, for whom prophylactic thyroidectomy can be considered at the age of 8 years.published_or_final_versio

Non-traditional biomarkers in the prediction of cardiovascular events among Chinese

Poster PresentationINTRODUCTION: Biomarkers of subclinical systemic chronic inflammation are increasingly recognised as a key player in atherosclerosis. C-reactive protein, measured using high-sensitivity assay (hsCRP), is the most promising inflammatory marker in predicting the risk of cardiovascular diseases (CVD). As obesity is associated with disregulated expression of various adipokines, either pro-inflammatory or anti-inflammatory, such adipokines may also serve as non-traditional biomarkers for the accelerated atherosclerosis associated with obesity. In this prospective cohort study, we examined the predictive value of a variety of non-traditional biomarkers for CVD among Hong Kong Chinese, and determined if they would …published_or_final_versionThe 17th Medical Research Conference, The University of Hong Kong, Hong Kong, 14 January 2012. In Hong Kong Medical Journal, 2012, v. 18 suppl. 1, p. 20, abstract no. 2

Predictors common to cardiovascular and cancer outcomes in a population-based 13-year prospective study in Hong Kong

Oral PresentationINTRODUCTION: Cardiovascular diseases (CVD) and cancer are the two leading causes of death in Hong Kong. Obesity is becoming increasingly prevalent in the local population and has been reported to be associated with CVD and some forms of cancer in the western world. In this study, we attempted to identify the aetiological factors linking obesity to both CVD and cancer among Hong Kong Chinese. METHODS: Subjects were recruited from the Hong Kong Cardiovascular Risk Factor Prevalence Study (CRISPS) …published_or_final_versionThe 16th Medical Research Conference, The University of Hong Kong, Hong Kong, 22 January 2011. In Hong Kong Medical Journal, 2011, v. 17 suppl. 1, p. 56, abstract no. 9

The clinical genetics of multiple endocrine neoplasia type 1 in Chinese

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Selective over-expression of endothelin-1 in endothelial cells exacerbates inner retinal edema and neuronal death in ischemic retina

The level of endothelin-1 (ET-1), a potent vasoconstrictor, was associated with retinopathy under ischemia. The effects of endothelial endothelin-1 (ET-1) over-expression in a transgenic mouse model using Tie-1 promoter (TET-1 mice) on pathophysiological changes of retinal ischemia were investigated by intraluminal insertion of a microfilament up to middle cerebral artery (MCA) to transiently block the ophthalmic artery. Two-hour occlusion and twenty-two-hour reperfusion were performed in homozygous (Hm) TET-1 mice and their non-transgenic (NTg) littermates. Presence of pyknotic nuclei in ganglion cell layer (GCL) was investigated in paraffin sections of ipsilateral (ischemic) and contralateral (non-ischemic) retinae, followed by measurement of the thickness of inner retinal layer. Moreover, immunocytochemistry of glial fibrillary acidic protein (GFAP), glutamine synthetase (GS) and aquaporin-4 (AQP4) peptides on retinal sections were performed to study glial cell reactivity, glutamate metabolism and water accumulation, respectively after retinal ischemia. Similar morphology was observed in the contralateral retinae of NTg and Hm TET-1 mice, whereas ipsilateral retina of NTg mice showed slight structural and cellular changes compared with the corresponding contralateral retina. Ipsilateral retinae of Hm TET-1 mice showed more significant changes when compared with ipsilateral retina of NTg mice, including more prominent cell death in GCL characterized by the presence of pyknotic nuclei, elevated GS immunoreactivity in Müller cell bodies and processes, increased AQP-4 immunoreactivity in Müller cell processes, and increased inner retinal thickness. Thus, over-expression of endothelial ET-1 in TET-1 mice may contribute to increased glutamate-induced neurotoxicity on neuronal cells and water accumulation in inner retina leading to edema. © 2011 Cheung et al.published_or_final_versio

Changes in blood pressure after 6 years in the Hong Kong cardiovascular risk factor prevalence survey cohort

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