Mutations in the hepatocyte nuclear factor-1α gene in southern Chinese subjects with early-onset type 2 diabetes

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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

Mutations in the hepatocyte nuclear factor-1 alpha gene in Chinese MODY Families: prevalence and functional analysis

Symposium on Endocrine SurgeryMaturity-onset diabetes of the young (MODY) is an autosomal dominant form of diabetes characterized by an early age of onset (usually <25 years). We screened for mutations in the hepatocyte nuclear factor (HNF)-1α (MODY 3) gene in 50 unrelated Southern Chinese families, which fulfilled the minimum criteria for MODY: two generations of type 2 DM with at least one member diagnosed under the age of 25 years. The 10 exons, flanking introns and promoter region of the HNF-1α gene were amplified by polymerase chain reaction and sequenced directly. Functional properties of the mutant proteins were investigated using site-directed mutagenesis and luciferase reporter assay. Six of the 50 (12%) subjects were found to have mutations, including one novel nonsense mutation Q176X, one novel intronic mutation IVS7-6 G→A and 4 reported mutations (frameshift mutation P379fsdelCT, nonsense mutation R171X, missense mutation G20R and P112L). The expression levels of wild type and mutant proteins in HeLa cells were similar except for R171X and Q176X which were not detected with the C-terminal antibody. The mutations locating in the coding region were found to have decreased trans-activating activity. The intronic mutation cosegregated with diabetes in the family, created a potential splice acceptor site and might alter the splicing of the HNF-1α mRNA. In conclusion, mutations in the HNF-1α gene appear to be an important cause of MODY in Southern Chinese. The mutations may affect normal islet function by altering the expression of the target genes.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

Endoscopic transnasal orbital decompression for thyrotoxic orbitopathy

Objective. To evaluate the efficacy of endoscopic transnasal orbital decompression alone for thyrotoxic orbitopathy. Design. Retrospective review of consecutive procedures. Setting. Tertiary referral otorhinolaryngology centre. Patients. Twenty-three eyes of 14 patients. Intervention. Endoscopic transnasal orbital decompression. Main outcome measures. Proptosis reduction, intra-ocular pressure reduction, exposure keratitis reduction, visual acuity improvement, and complication rate. Results. There were no surgical complications for the 23 orbital decompressions. Proptosis reduction was achieved in 22 (96%) eyes. The mean proptosis reduction was 4.6 mm (median, 5.0 mm; range, 1.0-8.0 mm). The postoperative intra-ocular pressure decreased after surgical decompression in 20 (87%) eyes with a mean reduction of 11 mm Hg (median, 6 mm Hg; range, 1-35 mm Hg). Of the 15 eyes with incomplete closure of the eyelid before the operation, 11 (73 %) had complete eyelid closure after surgical decompression. Of the other four eyes that had incomplete closure, the gaps were reduced. The visual acuity was improved for 16 (70%) eyes with a median improvement of 3 Snellen lines (range, 1-8 lines). Conclusion. Endoscopic transnasal medio-inferior orbital wall decompression is a safe and adequate treatment for thyrotoxic orbitopathy with proptosis, exposure keratitis, and visual loss.published_or_final_versio

The well-being of community-dwelling near-centenarians and centenarians in Hong Kong a qualitative study

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The relationship of asthma and the pattern of adiposity in adult Chinese

Poster presentationpublished_or_final_versionThe 15th Medical Research Conference, Department of Medicine, The University of Hong Kong, Hong Kong, 16 January 2010. In Hong Kong Medical Journal, 2010, v. 16, suppl. 1, p. 56, abstract no. 9

Plasma amyloid beta peptides and oligomers antibodies in Alzheimer's disease

INTRODUCTION: Various forms of amyloid beta (Aβ) including Aβ peptides, oligomers, protofibrils and fibrils are thought to be pathogenic in Alzheimer’s disease (AD). The exact pathophysiological role of endogenous Aβ autoantibodies (Ab) in healthy subjects and AD patients are uncertain. Potential protective role ...published_or_final_versio

Incremental prognostic value of global longitudinal strain in patients with type 2 diabetes mellitus

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Adiponectin is protective against oxidative stress induced cytotoxicity in amyloid-beta neurotoxicity

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