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Pendred syndrome (PS) is an autosomal recessive disease that is characterized by congenital sensorineural hearing loss, goiter, and a partial iodine organification defect. In this study, we characterized the thyroid status and identified mutations in the SLC26A4 gene in Chinese subjects with PS. We evaluated 7 unrelated Chinese subjects who had PS.(More)
INTRODUCTION Familial lipoprotein lipase (LPL) deficiency is inherited as an autosomal recessive trait and is characterized by chylomicronemia, eruptive xanthoma, hepatosplenomegaly, and recurrent pancreatitis. AIMS AND METHODOLOGY Two unrelated Chinese of Han descent with hypertriglyceridemia were enrolled in this study, and another six Han Chinese with(More)
The exchange of cholesterol ester (CE) between lipoproteins occurs through the action of cholesterol ester transfer protein (CETP). The human CETP gene is composed of 16 exons encompassing 25 kbp on chromosome 16q13. The objective of this study was to determine whether a mutation in the CETP gene accounted for severe hyperalphalipoproteinemia in an(More)
Immune checkpoint inhibitors are a new and effective class of cancer therapy, with ipilimumab being the most established drug in this category. The drugs' mechanism of action includes promoting the effector T cell response to tumours and therefore increased autoimmunity is a predictable side effect. The endocrine effects of these drugs include hypophysitis(More)
OBJECTIVE To identify MEN1 gene mutations and characterize clinical manifestations in Chinese kindred with multiple endocrine neoplasia type 1 (MEN1) in Taiwan. PATIENTS AND METHODS Eight unrelated subjects (one male and seven females, age range 26-70 years) with clinical manifestations of MEN1 were analysed. In addition, 45 relatives that included 10(More)
As modern life becomes increasingly closely bound to the Internet, network security becomes increasingly important. Like it or not, we all live under the shadow of network threats. The threats could cause leakage of privacy and/or economic loss. Among network attacks, the DDoS (distributed denial-of-service) attack is one of the most frequent and serious.(More)
OBJECTIVE Thyroxine-binding globulin (TBG) encoded by the TBG gene on chromosome Xq22 is the major transport protein, carrying approximately 75% of circulating T4. Inherited defects in TBG are associated with three phenotypes based on the level of TBG in serum of affected hemizygous males: complete TBG deficiency (TBG-CD), partial TBG deficiency (TBG-PD)(More)
Among the conditions in which creatine kinase (CK)-MB activity is elevated in the absence of myocardial injury or infarction, macroenzyme (macro) CK merits special attention from clinicians. We present 2 cases, 1 with macro CK type 1 and the other with macro CK type 2, to stress the common clinical situations and diagnostic dilemma that clinicians encounter(More)
A novel 64-bit hybrid radix-4 sparse-4 tree adder using clock-delayed (CD) footless domino logic is proposed. The adder operates at 6.4GHz with 181ps latency and it consumes 840mW at 1.2V in a standard 90nm CMOS technology. The adder latency is accurately measured by the programmable clock generated from delay-locked loop (DLL). Pseudo-exhaustive testing is(More)