A novel splicing variant in ABCA1 in the first reported Hong Kong Chinese patient with high-density lipoprotein deficiency.

Summary: Low high-density lipoprotein cholesterol (HDL-C) is a risk factor for cardiovascular disease. Very low HDL-C levels (less than 20 mg/dL), however, were uncommonly seen and can be due to genetic defects involving the metabolic pathway of high-density lipoprotein (HDL). We encountered a 50-year-old Chinese man who was only noticed to have extremely low HDL-C levels after surviving recurrent episodes of myocardial infarction.

Development of a novel diagnostic assay for insulin receptor autoantibodies based on a patient with autoimmune hypoglycaemia.

Differential diagnosis of hypoglycaemia can at times be challenging for patients who appear to be well. Here we identify the case of a 66-year-old Chinese man presenting with recurrent episodes of fasting hypoglycaemia and confusion without any other manifestations. He had no personal or family history of diabetes, nor was he on any hypoglycaemic drugs.

A novel mutation in pseudohypoparathyroidism type 1a in a Chinese woman and her son with hypocalcaemia.

Pseudohypoparathyroidism is a rare genetic disorder characterised by end-organ resistance to parathyroid hormone due to a defect of the guanine nucleotide-binding protein alpha that simulates activity of the polypeptide 1 (GNAS) gene. Patients with type 1a pseudohypoparathyroidism display different features of Albright's hereditary osteodystrophy as well as multi-hormone resistance. We describe a Chinese woman and her son, who presented with different symptoms of pseudohypoparathyroidism and clinically manifested different degree of Albright's hereditary osteodystrophy.

Phaeochromocytoma in the Hong Kong Chinese population.

Objective: To review the clinical manifestations of phaeochromocytoma in a Hong Kong Chinese population.

Design: Retrospective review. SETTING.

Severe right heart failure in two patients with thyrotoxicosis.

Congestive heart failure is a recognised complication of uncontrolled thyrotoxicosis but isolated right heart failure is rarely seen in association with thyrotoxicosis. Two cases of right heart failure associated with thyrotoxicosis are presented. In a 45-year-old man with right heart failure, investigations for all common secondary causes of right heart failure were negative.

Incidence and progression of diabetic retinopathy in Hong Kong Chinese with type 2 diabetes mellitus.

Objective: We conducted a cohort study to determine the incidence and progression of diabetic retinopathy (DR) in a Chinese population with type 2 diabetes mellitus in a district hospital in Hong Kong, and to identify the risk factors associated with the development and progression of DR over 4 years.

Research Design And Methods: A total of 413 type 2 diabetic patients who followed up in our diabetic clinic and had a diabetic complication screening performed in 2001 were studied. The final analysis included 354 subjects (85.