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Lam C.-W.,University of Hong Kong | Yeung W.-L.,Alice Ho Miu Ling Nethersole Hospital | Law C.-Y.,University of Hong Kong
Clinica Chimica Acta | Year: 2017

Background More than 100 genes had been identified for autism spectrum disorder (ASD). With the advancement of whole-exome/genome sequencing (WES/WGS), disease-causing gene in ASD can be identified in a holistic and unbiased approach. The identification of new ASD genes can further explore the molecular basis of ASD. Methods We report a 15 yo girl with developmental delay, intellectual disability, hypotonia, microcephaly and autistic feature. She first presented at 6 months old with primitive response to noise. Physical examination showed the patient was hypotonic despite normal muscle power and reflexes. She also had progressive microcephaly. Developmental assessment at 6 y showed the patient had a corresponding functional age of 1 y. The patient also had autistic feature. Results The patient had no abnormal biochemical or radiological findings. To investigate the molecular basis of the clinical presentation, we applied clinical whole-exome sequencing (WES) for the proband and the family, and we identified a novel de novo heterozygous missense pathogenic variant, TOP2BNM_001068.2:c.172C > T; NP_001059.2:p.His58Tyr. TOP2B encodes for the enzyme, topoisomerase II isoenzyme beta which is abundant in both developing and adult brain. Defect of topoisomerase is also known to cause ASD. Conclusions Using clinical WES, we were able to identify the disease-causing gene for this patient in a holistic approach and end the diagnostic odyssey with a therapeutic impact. © 2017 Elsevier B.V.


Che K.I.,Alice Ho Miu Ling Nethersole Hospital
East Asian Archives of Psychiatry | Year: 2016

A 12-year-old girl presented to the mental health service for an abrupt onset of mental changes characterised by hearing voices and being paranoid. She appeared preoccupied and her mood was labile. There was no family history of mental illness, and no organic causes were identified. These symptoms subsided spontaneously in a week. However, she experienced 3 other similar psychotic episodes afterwards which happened in a near-monthly cycle. Her level of functioning was normal between these episodes. Throughout the course of the illness, it was noted that these mental state changes might be related to the menstrual cycle. In this case we discuss the recurrent periodic psychoses in adolescents and the important differential diagnoses to be considered, including menstrual psychosis, a rare and less well-understood clinical entity. © 2016 Hong Kong College of Psychiatrists.


Chan H.L.Y.,Chinese University of Hong Kong | Chan C.K.,University of Hong Kong | Hui A.J.,Alice Ho Miu Ling Nethersole Hospital | Chan S.,Private Practice | And 11 more authors.
Gastroenterology | Year: 2014

Background & Aims Little is known about the benefit of antiviral therapy for hepatitis B e antigen (HBeAg)-positive patients with high viral load and normal levels of alanine aminotransferase. We evaluated the effects of single and combination therapies in immune-tolerant patients with chronic hepatitis B. Methods In a double-blind study, nucleos(t)ide-naïve patients with high levels of hepatitis B virus (HBV) DNA who were positive for HBeAg and had normal levels of alanine aminotransferase were randomly assigned to groups given either oral tenofovir disoproxil fumarate (TDF, 300 mg) and placebo (n = 64) or a combination of TDF (300 mg) and emtricitabine (200 mg, n = 62) for 192 weeks. The primary end point was proportion of patients with serum levels of HBV DNA <69 IU/mL at week 192. Results The study population (mean age was 33 years; 89% were Asian) was predominantly infected with HBV genotypes B and C (93%), 99% were HBeAg positive with a mean baseline level of HBV DNA of 8.41 log10 IU/mL. At week 192, 55% of patients (35 of 64) in the TDF+placebo group and 76% of patients (47 of 62) in the TDF+emtricitabine group had levels of HBV DNA <69 IU/mL (P =.016). No patients were found to have viral resistance to therapy. HBeAg seroconversion occurred in 3 patients (5%), all in the TDF+placebo group; no patient had loss of hepatitis B surface antigen. In multivariate analysis, female sex (odds ratio = 7.05; P =.002) and TDF+emtricitabine treatment (odds ratio = 3.9; P =.01) were associated with a favorable response. Both regimens were well tolerated. Conclusions In HBeAg-positive patients with chronic HBV infection, high viral loads, normal levels of alanine aminotransferase, and therapy with the combination of TDF and emtricitabine provided better viral suppression than TDF alone, although rates of HBeAg seroconversion and hepatitis B surface antigen loss were low.


Seto W.-K.,University of Hong Kong | Hui A.J.,Alice Ho Miu Ling Nethersole Hospital | Wong V.W.-S.,Chinese University of Hong Kong | Wong G.L.-H.,Chinese University of Hong Kong | And 4 more authors.
Gut | Year: 2014

Background and objective The off-treatment durability of nucleos(t)ide analogue therapy in Asian hepatitis B e antigen (HBeAg) negative chronic hepatitis B (CHB) and the role of hepatitis B surface antigen (HBsAg) levels in predicting off-treatment durability has not been well investigated. Methods Following Asia-Pacific Association for the Study of the Liver guidelines, entecavir was stopped in Asian HBeAg negative patients treated for ≥2 years with undetectable HBV DNA levels on ≥3 separate occasions 6 months apart before treatment cessation. HBsAg and HBV DNA levels were prospectively monitored every 6-12 weeks for 48 weeks. Entecavir was restarted if there was virologic relapse (defined as HBV DNA >2000 IU/mL). Result 184 patients (mean age 53.9 years, 67.9% male) were recruited. The cumulative rate of virologic relapse at 24 and 48 weeks was 74.2% and 91.4%, respectively. The median HBV DNA level at virologic relapse was 11 000 (range 2115 to >1.98×108) IU/mL. 42 (25.8%) patients had elevated alanine aminotransferase (median level 97 U/L, range 37-1058 U/L) during virologic relapse. Mean rate of off-treatment HBsAg decline was 0.018 (±0.456) log IU/mL/year. No patients cleared HBsAg. There was no correlation between off-treatment serial HBsAg and HBV DNA levels (r=-0.026, p=0.541). HBsAg levels at the time of entecavir commencement, entecavir cessation and the subsequent rate of HBsAg reduction were not associated with virologic relapse (all p>0.05). Conclusions Entecavir cessation in Asian HBeAg negative CHB resulted in high rates of virologic relapse, suggesting nucleos(t)ide analogue therapy should be continued indefinitely until the recognised treatment endpoint of HBsAg seroclearance. © 2014 BMJ Publishing Group Ltd & British Society of Gastroenterology.


Leung N.,Alice Ho Miu Ling Nethersole Hospital | Leung N.,Chinese University of Hong Kong
Liver International | Year: 2011

HBeAg seropositivity is a marker for active viral replication. In the natural history of chronic hepatitis B infection, HBeAg marks the first two of the four phases, namely the immune tolerant phase and the immune clearance phase, and is associated with highly replicative activity of the hepatitis B virus (HBV). Most HBV consensus reports and guidelines recommend antiviral therapy if the immune clearance phase is prolonged and if there is evidence of significant necroinflammation and fibrosis. Two main types of antiviral agents have been approved for treating patients in the immune clearance phase: interferon and nucleos(t)ide analogues (NUCs). The endpoints of therapy are viral suppression with HBeAg seroconversion, undetectable serum HBV DNA, normalization of serum alanine transaminase and improvement in the histological necroinflammatory and fibrosis scores. The ultimate goal of therapy is to obtain clinical benefit for the patient by reducing complications including hepatocellular carcinoma (HCC). The choice between interferon-based immune modulators or NUCs that target the HBV DNA polymerase must be carefully weighed on an individual basis. Therapy with NUCs is often preferred by doctors and patients because it is easy to administer, with predictable efficacy and minimal side-effects. In specific patient subgroups such as those with decompensated disease, poor predictors of response or lack of response to interferon-based therapy and/or significant comorbidities that cannot tolerate interferon-induced side effects, NUCs therapy is the obvious choice. Entecavir and tenofovir are the treatments of choice because their efficacy and safety profile are better than lamivudine, adefovir and telbivudine. More importantly, there is a minimal risk of drug resistance during long-term therapy with these agents. © 2011 John Wiley & Sons A/S.


Lam M.-H.,Chinese University of Hong Kong | Fong D.T.-P.,Chinese University of Hong Kong | Yung P.S.-H.,Chinese University of Hong Kong | Ho E.P.-Y.,Chinese University of Hong Kong | And 2 more authors.
American Journal of Sports Medicine | Year: 2011

Background: The restoration of knee rotational stability after anatomic double-bundle anterior cruciate ligament (ACL) reconstruction has been demonstrated in the cadaveric model and with passive stress tests on humans but not yet with dynamic functional biomechanical tests performed by human participants. Purpose: To prospectively investigate the range of tibial rotation of ACL-deficient and ACL-reconstructed knees during a pivoting task. The authors hypothesized that there would be a significant increase in tibial internal rotation in the ACL-deficient knee compared with the contralateral knee and that the increased rotation would return to normal after anatomic double-bundle ACL reconstruction. Study Design: Case series; Level of evidence, 4. Methods: Ten men with unilateral ACL injury performed a high-demand jump-landing and pivoting task before and after ACL reconstruction with mean follow-up of 11 months. The range of tibial rotation of the injured, reconstructed, and intact knees during the pivoting movement was measured by an optical motion analysis system. Paired t tests were performed to investigate any significant difference between the 2 limbs preoperatively and postoperatively and within the injured limb before and after the surgical treatment. Statistical significance was set at P <.05. Results: The range of tibial rotation was higher in the ACL-deficient knee (12.6° ± 4.5°) than in the intact knee (7.9° ± 3.1°) preoperatively (P <.05). The increased rotation was reduced in the reconstructed knee (8.9° ± 3.0°) after ACL reconstruction versus the intact knee postoperatively (8.2° ± 2.6°) (P <.05). There was no significant difference in the tibial rotation between the intact knee and the reconstructed knee postoperatively (P >.05). Conclusion: As assessed with a dynamic functional pivoting movement, the anatomic double-bundle ACL reconstruction successfully restores knee rotational stability from an impaired level. © 2011 The Author(s).


Fong D.T.-P.,Chinese University of Hong Kong | Chan Y.-Y.,Chinese University of Hong Kong | Chan Y.-Y.,Alice Ho Miu Ling Nethersole Hospital
Sensors (Switzerland) | Year: 2010

Wearable motion sensors consisting of accelerometers, gyroscopes and magnetic sensors are readily available nowadays. The small size and low production costs of motion sensors make them a very good tool for human motions analysis. However, data processing and accuracy of the collected data are important issues for research purposes. In this paper, we aim to review the literature related to usage of inertial sensors in human lower limb biomechanics studies. A systematic search was done in the following search engines: ISI Web of Knowledge, Medline, SportDiscus and IEEE Xplore. Thirty nine full papers and conference abstracts with related topics were included in this review. The type of sensor involved, data collection methods, study design, validation methods and its applications were reviewed. © 2010 by the authors; licensee MDPI, Basel, Switzerland.


Chan J.Y.-S.,Chinese University of Hong Kong | Fang F.,Chinese University of Hong Kong | Zhang Q.,Chinese University of Hong Kong | Zhang Q.,University of Sichuan | And 7 more authors.
European Heart Journal | Year: 2011

Aims: The Pacing to Avoid Cardiac Enlargement (PACE) trial is a prospective, double-blinded, randomized, multicentre study that reported the superiority of biventricular (BiV) pacing to right ventricular apical (RVA) pacing in the prevention of left ventricular (LV) adverse remodelling and deterioration of systolic function at 1 year. In the current analysis, we report the results at extended 2-year follow-up for changes in LV function and remodelling. Methods and results: Patients (n=177) with bradycardia and preserved LV ejection fraction (EF <45) were randomized to receive RVA or BiV pacing. The co-primary endpoints were LVEF and LV end-systolic volume (LVESV).Eighty-one (92) of 88 in the RVA pacing group and 82 (92) of 89 patients in the BiV pacing group completed 2-year follow-up with a valid echocardiography. In the RVA pacing group, LVEF further decreased from the first to the second year, but it remained unchanged in the BiV pacing group, leading to a significant difference of 9.9 percentage points between groups at 2-year follow-up (P < 0.001). Similarly, LVESV continues to enlarge from the first to the second year in the RVA pacing group, leading to a difference of 13.0 mL (P < 0.001) between groups. Predefined subgroup analysis showed consistent results with the whole study population for both co-primary endpoints, which included patients with pre-existing LV diastolic dysfunction. Eighteen patients in the BiV pacing group (20.2) and 55 in the RVA pacing group (62.5) had a significant reduction of LVEF (of <5, P < 0.001). Conclusion: Left ventricular adverse remodelling and deterioration of systolic function continues at the second year after RVA pacing. This deterioration is prevented by BiV pacing. © 2011 The Author.


Lee Y.-C.,Alice Ho Miu Ling Nethersole Hospital | Chen P.-P.,Alice Ho Miu Ling Nethersole Hospital
Expert Opinion on Pharmacotherapy | Year: 2010

Importance of the field: Selective serotonin reuptake inhibitors (SSRIs) and serotonin noradrenaline reuptake inhibitors (SNRIs) are becoming increasingly used in the treatment of neuropathic pain and fibromyalgia. However, they are not without adverse effects and their efficacy has not been clear because of conflicting evidence. Areas covered in this review: We have examined the current evidence on the efficacy of SSRIs and SNRIs in the treatment of neuropathic pain and fibromyalgia. Relevant randomized, placebo-controlled studies were identified through a MEDLINE search of English-language literature from January 1990 to December 2009. What the reader will gain: The evidence for efficacy of SSRIs in the treatment neuropathic pain is moderate at best. However, SNRIs, venlafaxine and duloxetine have been shown to be effective in the treatment of painful diabetic neuropathy and polyneuropathy. With fibromyalgia, both SSRIs (fluoxetine and paroxetine) and SNRIs (duloxetine and milnacipran) have been shown to improve pain relief, function and quality of life. Take home message: SSRIs and SNRIs may be considered in the treatment of neuropathic pain if treatment with tricyclic antidepressants and anticonvulsants fails, or if there are contraindications to these drugs. There is also sufficient evidence to indicate that SNRIs are effective in the treatment of fibromyalgia and may be considered early in the treatment of fibromyalgia. © 2010 Informa UK, Ltd.


Fan J.C.H.,Alice Ho Miu Ling Nethersole Hospital
Journal of Orthopaedic Surgery and Research | Year: 2012

This was a retrospective review of the nine open wedge high tibial osteotomy (HTO) done in a regional hospital in Hong Kong from 2006 to 2008. The mechanical hip-knee-ankle angle improved from average 169.5°(164°-175°) to average 183.9° (179°-187°). Patellar descent was noted in all patients postoperatively, with Blackburne-Peel (BP) index significantly changing from 0.78 (0.64-0.93) to 0.59 (0.38-0.78) (p < 0.05). This change was strongly correlated with the size of anterior bone graft (r = -0.766; p = 0.016). The patellar tendon length as measured by Insall-Salvati index was not changed (pre-operative: 1.02 (0.88-1.25), final: 1.09 (0.8-1.22) (p = 0.683)), inferring that scarring contracture of patellar tendon was not related to patellar descent. © 2012 Fan; licensee BioMed Central Ltd.

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