Wilson's disease: A patient undiagnosed for 18 years

Wilson's disease, an autosomal recessive disorder of copper metabolism, is the most common inherited hepatic disease in Hong Kong. Diagnosis is based on the presence of Kayser-Fleischer rings, typical neurological symptoms, and/or a low serum ceruloplasmin concentration (<0.20 g/L). Early detection and treatment protect patients and their presymptomatic siblings from devastating organ damage. The diagnosis of Wilson's disease may nonetheless be overlooked if only established clinical and laboratory tests are used as diagnostic criteria. We report diagnosis of the disorder using genetic analysis of ATP7B in a presymptomatic sibling who escaped diagnosis during family screening 18 years previously. The patient was 11 months old when family screening was performed following diagnosis of Wilson's disease in an elder sister. The boy was considered to be unaffected on the basis of laboratory results in the expected range: serum copper level, 4.6 μmol/L; serum ceruloplasmin level, 0.16 g/L; and 24-hour urinary copper excretion, 0.14 μmol/day. Molecular analysis of ATP7B was performed; it revealed that the two siblings shared the same compound heterozygous mutations (G943D and 2299delC). We recommend that molecular diagnosis is the only definitive means of diagnosing Wilson's disease in children younger than 1 year.published_or_final_versio

Three-dimensional finite element analyses on the transtibial residual limb and its prosthetic socket

2000-2001 > Academic research: refereed > Publication in refereed journalVersion of RecordPublishe

Experimental Documentation of the Structural Consequences of Hydrogen‐Bonding Interactions to the Proximal Cysteine of a Cytochrome P450

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/93728/1/ange_201205912_sm_miscellaneous_information.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/93728/2/10549_ftp.pd

Paediatric Epilepsy Surgery Programme in Hong Kong: experience in Queen Mary Hospital / Duchess of Kent Children's Hospital

Poster: no. P6BACKGROUND: Surgery is a well-established treatment for adults with intractable seizures. Increasingly, infants and children are being considered for epilepsy surgery. In a growing child, epilepsy surgery has the additional benefit of aborting cognitive decline and improving development and behaviour ...published_or_final_versio

Paediatric Epilepsy Surgery Programme in Hong Kong: experience in Queen Mary Hospital/Duchess of Kent Children's Hospital

Poster: no. P6BACKGROUND: Surgery is a well-established treatment for adults with intractable seizures. Increasingly, infants and children are being considered for epilepsy surgery. In a growing child, epilepsy surgery has the additional benefit of aborting cognitive decline and improving development and behaviour. METHODS: The paediatric epilepsy surgery programme ...published_or_final_versio

Spectral linewidth analysis of semiconductor hybrid lasers with feedback from an external waveguide resonator circuit

We present a detailed analysis of a semiconductor hybrid laser exploiting spectral control from an external photonic waveguide circuit that provides frequency-selective feedback. Based on a spatially resolved transmission line model (TLM), we have investigated the output power, emission frequency, and the laser spectral linewidth. We find that, if the feedback becomes weaker, the spectral linewidth is larger than predicted by previous models that are based on a modified mean-field approximation, even if these take a strong spatial variation of the gain into account. The observed excess linewidth is caused by additional index fluctuations that are associated with strong spatial gain variations

How do full-service carriers and low-cost carriers passengers perceived service dimensions, passengers’ satisfaction, and loyalty differently? An empirical study

Purpose: In this study, group differences between full-service carriers (FSC) and low-cost carriers (LCC) in loyalty constructs are investigated, revealing the relationship between service quality and loyalty. This work focuses on five dimensions, including tangibility, empathy, assurance, responsiveness, and reliability, constitute service quality. Design/methodology/approach: 248 questionnaires were collected in the first half of 2019. The antecedents of customer loyalty are explored, and the group differences between FSC and LCC are analyzed. For assessing the path model with the consideration of group variance, the Partial Least Squares Multiple Group Analysis (PLS-MGA) was adopted to analyze the differences of the estimated inter-group coefficient. Findings: Our findings suggest that service assurance, service empathy, and service reliability positively impact the value perceived. The impact of service empathy on customer satisfaction in FSC is significantly diverse from LCC. Several suggestions are provided to FSC and LCC on improving their services in view of passengers’ wants and interests. Originality/value: With the data collected at the HKIA, this study examined the relationships among service quality, perceived value, customer satisfaction, and customer loyalty and divided service quality into five dimensions. The findings show that assurance, empathy, and reliability of service quality positively affect the value perceived, and the effects of responsiveness and tangibility of service quality on perceived value are insignificant. Among the five aspects of service quality, assurance, reliability, responsiveness, and tangibility of the service quality are the pre-conditions of customer satisfaction. However, only the reliability of service is the antecedent of customer loyalty. Besides, the value perceived positively affects customers to be satisfactory and loyal. Furthermore, satisfaction degree also significantly influences the degree of customers’ loyalty. As to the role of airline types, the sole effect is on customers' satisfaction is service empathy, with a significant difference between FSC and LCCPeer Reviewe

Self-injurious behaviours are associated with alterations in the somatosensory system in children with autism spectrum disorder.

Children with autism spectrum disorder (ASD) frequently engage in self-injurious behaviours, often in the absence of reporting pain. Previous research suggests that altered pain sensitivity and repeated exposure to noxious stimuli are associated with morphological changes in somatosensory and limbic cortices. Further evidence from postmortem studies with self-injurious adults has indicated alterations in the structure and organization of the temporal lobes; however, the effect of self-injurious behaviour on cortical development in children with ASD has not yet been determined. Thirty children and adolescents (mean age = 10.6 ± 2.5 years; range 7-15 years; 29 males) with a clinical diagnosis of ASD and 30 typically developing children (N = 30, mean age = 10.7 ± 2.5 years; range 7-15 years, 26 males) underwent T1-weighted magnetic resonance and diffusion tensor imaging. No between-group differences were seen in cerebral volume, surface area or cortical thickness. Within the ASD group, self-injury scores negatively correlated with thickness in the right superior parietal lobule t = 6.3, p \u3c 0.0001, bilateral primary somatosensory cortices (SI) (right: t = 4.4, p = 0.02; left: t = 4.48, p = 0.004) and the volume of the left ventroposterior (VP) nucleus of the thalamus (r = -0.52, p = 0.008). Based on these findings, we performed an atlas-based region-of-interest diffusion tensor imaging analysis between SI and the VP nucleus and found that children who engaged in self-injury had significantly lower fractional anisotropy (r = -0.4, p = 0.04) and higher mean diffusivity (r = 0.5, p = 0.03) values in the territory of the left posterior limb of the internal capsule. Additionally, greater incidence of self-injury was associated with increased radial diffusivity values in bilateral posterior limbs of the internal capsule (left: r = 0.5, p = 0.02; right: r = 0.5, p = 0.009) and corona radiata (left: r = 0.6, p = 0.005; right: r = 0.5, p = 0.009). Results indicate that self-injury is related to alterations in somatosensory cortical and subcortical regions and their supporting white-matter pathways. Findings could reflect use-dependent plasticity in the somatosensory system or disrupted brain development that could serve as a risk marker for self-injury