Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria

published_or_final_versio

Atypical focal cortical dysplasia in a patient with Cowden syndrome

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Split-Drain Magnetic Field-Effect Transistor Channel Charge Trapping and Stress Induced Sensitivity Deterioration

Session EB: Materials for ApplicationsThis paper proposed an analytical model on the deterioration of magnetic sensitivity of sectorial split-drain magnetic field-effect transistors (SD-MAGFETs). The deterioration is governed by the trap fill rate at the channel boundary traps, which is geometric dependent. Experimental results are presented which show good consistency with the analytical derivation. The deterioration is the most severe at a sector angle of 54.6°, which shows a design tradeoff with sensing hysteresis. Design guidelines for sectorial SD-MAGFET to obtain high sensitivity hysteresis and slow sensitivity deterioration are also presented which provide important information for efficient design. © 2013 IEEE.published_or_final_versio

On the architecture of H.264 to H.264 homogeneous transcoding platform

2007-2008 > Academic research: refereed > Invited conference paperVersion of RecordPublishe

Alkali metal cation-ligand affinities : basis set superposition correction for the Gaussian protocols

Author name used in this publication: C. W. Tsang2000-2001 > Academic research: refereed > Publication in refereed journalVersion of RecordPublishe

Modified edge-directed interpolation for images

Author name used in this publication: Chi-Wah Kok2009-2010 > Academic research: refereed > Publication in refereed journalVersion of RecordPublishe

Impact of glycaemic control on circulating endothelial progenitor cells and arterial stiffness in patients with type 2 diabetes mellitus

Topics: Basic science, translational and clinical researchPoster PresentationThis journal supplement contains abstracts from the 17th MRC; Dept. of Medicine, The University of Hong Kong, Queen Mary Hospital, Hong KongINTRODUCTION: Patients with type 2 diabetes mellitus (DM) have increased risk of endothelial dysfunction and arterial stiffness. Levels of circulating endothelial progenitor cells (EPCs) are also reduced in hyperglycaemic states. However, the relationships between glycaemic control, levels of EPCs and arterial stiffness are unknown. METHODS: We measured circulating EPCs and …published_or_final_versionThe 17th Medical Research Conference (MRC), Department of Medicine, University of Hong Kong, Hong Kong, 14 January 2012. In Hong Kong Medical Journal, 2012, v. 18 suppl. 1, p. 63, abstract no. 10

A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia

Isovaleric acidaemia is a rare inherited organic acidaemia associated with a characteristic odour in affected patients. Fewer than 40 causative mutations have been reported to date. We report a case in a Hong Kong Chinese neonate who presented with respiratory distress and acute encephalopathy requiring aggressive resuscitation and treatment. Residual gross motor developmental delay was still observed at the age of 16 months. The child was subsequently found to harbour a known missense mutation (c.A1199G [p.Y371C]) and a novel 4-bp duplication (c.1148_1151dupGCTA [p.Y355X]) in the IVD gene. We suggest that the former is a founder mutation in the Chinese population and propose an explanation for the duplication event. Strategies that may achieve early diagnosis and prompt treatment include raising awareness of this condition, implementation of a tandem mass spectrometry neonatal screening programme, and local acquisition of appropriate medications for these metabolic diseases.published_or_final_versio

Association between treatment with apixaban, dabigatran, rivaroxaban, or warfarin and the risk of osteoporotic fractures among patients with atrial fibrillation: A population-based cohort study

Background: It is unclear whether anticoagulant type is associated with the risk for osteoporotic fracture, a deleterious complication of anticoagulants among patients with atrial fibrillation (AF). Objective: To compare the risk for osteoporotic fracture between anticoagulants. Design: Population-based cohort study. Setting: Territory-wide electronic health record database of the Hong Kong Hospital Authority. Participants: Patients newly diagnosed with AF between 2010 and 2017 who received a new prescription for warfarin or a direct oral anticoagulant (DOAC) (apixaban, dabigatran, or rivaroxaban). Follow-up ended on 31 December 2018. Measurements: Osteoporotic hip and vertebral fractures in anticoagulant users were compared using propensity score–weighted cumulative incidence differences (CIDs). Results: There were 23 515 patients identified (3241 apixaban users, 6867 dabigatran users, 3866 rivaroxaban users, and 9541 warfarin users). Overall mean age was 74.4 years (SD, 10.8), ranging from 73.1 years (warfarin) to 77.9 years (apixaban). Over a median follow-up of 423 days, 401 fractures were identified (crude event number [weighted rate per 100 patient-years]: apixaban, 53 [0.82]; dabigatran, 95 [0.76]; rivaroxaban, 57 [0.67]; and warfarin, 196 [1.11]). After 24-month follow-up, DOAC use was associated with a lower risk for fracture than warfarin use (apixaban CID, −0.88% [95% CI, −1.66% to −0.21%]; dabigatran CID, −0.81% [CI, −1.34% to −0.23%]; and rivaroxaban CID, −1.13% [CI, −1.67% to −0.53%]). No differences were seen in all head-to-head comparisons between DOACs at 24 months (apixaban vs. dabigatran CID, −0.06% [CI, −0.69% to 0.49%]; rivaroxaban vs. dabigatran CID, −0.32% [CI, −0.84% to 0.18%]; and rivaroxaban vs. apixaban CID, −0.25% [CI, −0.86% to 0.40%]). Limitation: Residual confounding is possible. Conclusion: Among patients with AF, DOAC use may result in a lower risk for osteoporotic fracture compared with warfarin use. Fracture risk does not seem to be altered by the choice of DOAC. These findings may help inform the benefit–risk assessment when choosing between anticoagulants. Primary Funding Source: The University of Hong Kong and University College London Strategic Partnership Fund

Recurrent acute heart failure caused by sliding hiatus hernia

The case is reported of a 75 year old woman who presented with recurrent nocturnal episodes of acute pulmonary oedema. The cause was uncertain as she had normal cardiothoracic ratio on chest radiography and normal left ventricular systolic and diastolic function by transthoracic echocardiogram. Another transthoracic echocardiogram was repeated when she was recumbent for an hour and had a full stomach. It showed a striking finding of severe left atrial compression by an external structure. Computed tomography of the thorax showed an intrathoracic mass behind the left atrium causing external compression of the left atrium suggestive of a sliding hiatus hernia. Cardiac catheterisation confirmed the diagnosis by showing a pronounced rise of pulmonary capillary wedge pressure in the recumbent position compared with the sitting up position.published_or_final_versio