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Biomedical subjects

J Hui

Publications and source records attributed to J Hui.

At least 19 recordsLinked to original sources
PubMed2006

AluyMICB dimorphism within the class I region of the major histocompatibility complex is associated with asthma and airflow obstruction in the Busselton population.

AIM: To examine the association between the Alu dimorphism within the first intron of the MICB gene and asthma and airflow obstruction. Background The highly polymorphic non-classical MHC class I polypeptide-related (MIC) genes, MICA and MICB, encode stress inducible glycoproteins, which are expressed on a variety of epithelial cells, including those of the lungs. METHODS: AluyMICB genotyping was performed on 1109 subjects from the Busselton Health Study. From a standard questionnaire, 359 individuals indicated that they had been diagnosed by a doctor with asthma. Lung function was assessed by the forced expired volume in 1 second (FEV1) and expressed as a percent of the predicted value. Airflow obstruction was defined as FEV1<80% predicted. RESULTS: In men, a dominant relationship was found between the AluyMICB DD genotype and asthma (P=0.006; chi2(2)=7.65). Furthermore, multivariate analysis adjusted for age, height, weight and body mass index (BMI) showed a relationship between DD genotype and asthma in men in a dominant model (odds ratio (OR)=1.97; 95% confidence interval (CI)=1.11-3.51; P=0.021). In women, an association was found between the AluyMICB II genotype and FEV1 percent predicted as a continuous variable (P=0.001). When adjusted for age and BMI, it showed a significant relationship between AluyMICB and airflow obstruction in a dominant model (OR=14.11%, 95% CI 3.29-60.57, P<0.001). However, no association was found between the AluyMICB II genotypes and airflow obstruction in men. CONCLUSION: These findings suggest the possible involvement of a MHC class I gene in abnormal airway structure in women and airway function in men.

Adult↗
PubMed2005

Fever, pulmonary haemorrhage, and acute renal failure in a young girl.

Leptospirosis is rarely reported in children. It is easily treated with antibiotics but can be fatal if treatment is delayed. A 12-year-old girl was diagnosed with Weil syndrome, a severe form of leptospirosis, 10 days after returning from Mainland China. She presented with fever, hypotension, jaundice, and acute renal failure. She had used well water for bathing and swum in freshwater.

Acute Kidney Injury↗
PubMed2004

Infection control for SARS in a tertiary paediatric centre in Hong Kong.

Severe acute respiratory syndrome (SARS) is an emerging infectious disease. After the appearance of an index patient in Hong Kong in February 2003, SARS outbreaks occurred rapidly in hospitals and spread to the community. The aim of this retrospective study is to evaluate the effectiveness of a triage policy and risk-stratified infection control measures in preventing nosocomial SARS infection among paediatric healthcare workers (HCWs) at the Prince of Wales Hospital, a general hospital to which children with SARS are referred in Hong Kong. The acute paediatric wards were stratified into three areas: (1) ultra high-risk area, (2) high-risk area and (3) moderate-risk area according to different risk levels of nosocomial SARS transmission. The implementation of different levels of infection control precautions was guided by this risk stratification strategy. Between 13 March and 23 June, 38 patients with probable and suspected SARS, 90 patients with non-SARS pneumonia, and 510 patients without pneumonia were admitted into our unit. All probable SARS cases were isolated in negative-pressure rooms. Twenty-six HCWs worked in the ultra high-risk area caring for SARS patients and 88 HCWs managed non-SARS patients in other ward areas. None of the HCWs developed clinical features suggestive of SARS. In addition, there was no nosocomial spread of SARS-associated coronavirus to other patients or visitors during this period. In conclusion, stringent infection control precautions, appropriate triage and prompt isolation of potential SARS patients may have contributed to a lack of nosocomial spread and HCW acquisition of SARS in our unit.

Cross Infection↗
PubMed2004

Identification of two new C4 alleles by DNA sequencing and evidence for a historical recombination of serologically defined C4A and C4B alleles.

Nucleotide polymorphisms of the C4 genes were investigated by direct sequencing of seven different homozygous typing cells from the 10IHW panels. Two novel sequences were identified within the C4d region of the C4 genes. Our sequencing analyses extend previous findings suggesting that a recombination hot spot is likely to have occurred between codon positions 1157 and 1186 within the C4d region. The classification of electrophoretically defined C4A and C4B alleles can be further subtyped by sequencing. Because the central major histocompatibility complex region that carries various copies of the C4 gene has been associated with a range of disorders; further analysis at the sequence level within the C4 locus may provide informative genetic markers for the investigation of disease-associated polymorphisms.

Alleles↗
PubMed2003

3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib.

We report elevated urinary excretion of 3-methylglutaconic (3MGC) and 3-methylglutaric acids (3MGR) in a patient with glycogen storage disease Ib. Combined excretion was 10-fold elevated in comparison to control during inadequate glucose maintenance, and still elevated following dietary improvement. 3MGC acid excretion correlated with plasma lactate and glucose. We speculate that imbalanced gluconeogenesis and de novo cholesterol synthesis result in secondarily increased 3MGC/3MGR production.

Adolescent↗
PubMed2003

Localization of a non-melanoma skin cancer susceptibility region within the major histocompatibility complex by association analysis using microsatellite markers.

The major histocompatibility complex (MHC) is known to have a role in the development of non-melanoma skin cancer (NMSC), although the genes and mechanisms involved have yet to be determined. To identify the susceptibility locus for NMSC within the MHC, we used a collection of well-defined polymorphic microsatellite markers from the Human leucocyte antigen (HLA) region for an association analysis of 150 cases with NMSC and 200 healthy controls selected from the Busselton population in Western Australia. High-resolution mapping was undertaken using a total of 40 highly polymorphic markers located at regular intervals across the HLA region (3.6Mb). Polymerase chain reaction (PCR) analysis was initially performed on pooled DNA markers to detect those markers that showed different allele profiles. Statistically significant differences in allelic frequencies (differentiating alleles) were found between cases and controls at three polymorphic microsatellite loci within a 470-kb genomic susceptibility region ranging between 6 kb centromeric of the HLA-B gene and intron 5 of the DDR gene. Interestingly, this genome region corresponded completely with the psoriasis-susceptibility locus. The three differentiating alleles and another four markers outside the susceptibility region were then PCR tested by individual genotyping of cases and controls. The newly identified susceptibility locus for NMSC within the MHC was found to be significantly different between the cases and controls by comparisons of allele frequencies at the three differentiating loci estimated from DNA pools and then confirmed by individual genotyping. This is the first study using high density microsatellite markers to localize a NMSC susceptibility region within the human genome.

Australia↗
PubMed2003

Red eyes as the initial presentation of systemic meningococcal infection.

The present paper is a report of a 14-month-old boy who presented with fever, coryzal symptoms and red eyes. The patient developed a generalized tonic clonic convulsion on day 2 of his illness. Ophthalmological assessment demonstrated bilateral hypopyon and vitreous opacity resulting from endophthalmitis. Cerebrospinal fluid was positive for Neisseria meningitidis (A, C, Y, W 135) by latex agglutination. He was treated with high dose intravenous cefotaxime and intravitreal ceftazidime. He made good recovery and his vision was preserved. In view of the potential morbidity and mortality associated with systemic meningococcal infection, the presence of red eye and hypopyon provides important diagnostic clues indicating the need to investigate beyond superficial conjunctivitis. It should prompt the clinician to recognize endopthalmitis early and accurately diagnose this serious disease.

Anti-Infective Agents↗
PubMed2002

Corneodesmosin DNA polymorphisms in MHC haplotypes and Japanese patients with psoriasis.

In order to examine the relationship between corneodesmosin (CDSN) and psoriasis we have determined the presence of CDSN polymorphisms by DNA sequencing in (a) nine B-LCL cell lines of major histocompatibility complex ancestral haplotypes known to be associated with psoriasis vulgaris including 13.1AH, 46.1AH, 46.2 and 57.1AH, and in (b) a group of 267 unrelated individuals comprising Japanese psoriasis patients (n = 101) and Japanese subjects without the disease (n = 166). Three novel CDSN gene sequences were identified. In addition, we have classified the 18 alleles into seven main groups based on phylogeny of non-synonymous substitutions. However, we have found no statistically significant differences between the patients and the unaffected individuals in any of these groups. These findings indicate that CDSN is not a major psoriasis susceptibility gene.

Alleles↗
PubMed2001

Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong.

BACKGROUND: The Joint metabolic clinic at the Prince of Wales Hospital was established in January 1997 to provide a comprehensive multi-disciplinary care to patients with inherited metabolic diseases (IMDs). Patients are referred from both within and outside our hospital. Until July, 2000, more than 40 patients and families with 20 different biochemical diagnoses attend the clinic for regular follow up. A pattern of more common IMDs among Hong Kong Chinese emerged from our case registry. In order to advance the understanding of Chinese metabolic diseases, we examined the molecular basis of those diseases with unique features in Chinese or were locally prevalent. Mutations were found in patients with primary carnitine deficiency, ornithine transcarbamylase deficiency, X-linked adrenoleukodystrophy, glutaric aciduria type I, and galactosemia. We also analyzed the mutations in multiple carboxylase deficiency and Niemann-pick type C on four families. CONCLUSIONS: Although IMDs are a significant cause of mortality and morbidity among pediatric patients, with a better understanding of the molecular genetics of these diseases, prenatal diagnosis of these common IMDs will be facilitated, which is currently the most effective way of controlling IMDs.

Fatty Acids↗
PubMed2001

Pharmaceutical significance of the cyclic imide form of recombinant human glial cell line derived neurotrophic factor.

PURPOSE: The purpose of this paper is to determine the significance of cyclic imide formation of an aspartic acid residue during storage on the pharmaceutical quality of a recombinant human glial cell line-derived neurotrophic factor (rhGDNF) formulation. METHODS: A combination of chromatography, peptide mapping, mass spectroscopy, and protein sequencing was used to purify and characterize the degradation product. Circular dichroism, 1,8-ANS and heparin binding, melting temperature determination, bioassays, and preclinical pharmacokinetic and toxicology testing were performed to examine its equivalence to native rhGDNF. RESULTS: The rhGDNF with cyclic imide at aspartic acid residue 96 showed identical activity, structure, pharmacokinetic profile, and toxicity profile to the native rhGDNF. CONCLUSIONS: Formation of cyclic imide at aspartic acid residue 96 does not affect the pharmaceutical quality of the rhGDNF formulation.

Animals↗
PubMed2001

Grading of acute and chronic renal lesions in Henoch-Schönlein purpura.

The renal outcome of 34 patients with Henoch-Schönlein purpura nephritis was assessed clinically and by grading acute and chronic renal lesions using a system we applied to primary IgA nephropathy. On a median follow-up period of 65 months, hypertension and the serum levels of creatinine and proteinuria at the time of renal biopsy were correlated with renal survival. Acute glomerular lesions including mesangial hypercellularity, endocapillary proliferation, necrosis, cellular crescents, and leukocytes infiltration were observed, respectively, in 41%, 12%, 50%, 29%, and 32% of the cases. Of these, only glomerular necrotizing lesion and cellular crescent were correlated with the renal survival. Chronic renal lesions based on a grading system applied to primary IgA nephropathy and assessing the extent of glomerular sclerosis (glomerular grading), of tubular loss and interstitial fibrosis (tubulointerstitial grading), and of hyaline arteriolosclerosis demonstrated correlation between these lesions, as well as with renal survival. On follow-up, these chronic renal lesions were predictors of subsequent clinical events associated with disease progression, such as impaired renal function, significant proteinuria, and development of hypertension. Despite some limitations related to the relatively small size, this series indicates that distinction of acute and chronic lesions of Henoch-Schonlein purpura nephritis is important for both the prognosis and management of patients.

Acute Disease↗
PubMed2001

Ocular complications of paediatric patients with nephrotic syndrome.

PURPOSE: To investigate ocular complications arising from nephrotic syndrome and/or its treatments in children. METHODS: A cross-sectional study was conducted in a teaching hospital. A total of 31 paediatric patients with nephrotic syndrome were studied. Comprehensive ophthalmic assessments on best-corrected visual acuity, intraocular pressure, slit-lamp and fundus examination were taken. Information regarding histological diagnosis of nephrotic syndrome and its treatment regimen in each patient was reviewed and analysed. RESULTS: Bilateral posterior subcapsular cataracts were detected in three of 29 patients (10.3%) who received steroid therapy. Two had normal vision while one had visual acuity reduced to 6/15 in both eyes. The age of onset of the nephrotic syndrome in these three patients was 2 years, which was significantly younger than those without cataract (5.4 +/- 3.2 years, P < 0.001). Three patients (9.7%) had isolated asymptomatic fundal findings of tortuous and dilated retinal vessels. Hypertensive retinopathy was found in one patient (3.2%). No steroid-induced glaucoma, uveitis, ocular infection, or other eye complications related to the use of steroids or other immunosuppressive agents were noted. CONCLUSIONS: Children who have nephrotic syndrome often require prolonged, intermittent high dose of systemic corticosteroid therapy. Paediatricians should be aware of the potential risk of developing steroid-related complications, especially posterior subcapsular cataract. It appears to have a higher risk when steroid therapy is used in very young patients. Early detection would help to prevent amblyopia development, particularly in the group of immature eyes.

Adolescent↗
PubMed2001

Angiotensin II type 1 receptor modulation of L-type calcium currents in guinea-pig ventricular cells.

OBJECTIVE: To study the cellular mechanism of the effect of Ang II on ICa,L in single guinea-pig ventricular cells by using losartan and 1-(5-lsoquinolinylsulfonyl)-2-Methyl-Piperazine (H-7) as the Ang II type 1 receptor (AT1) inhibitor and protein kinase C inhibitor, respectively. METHODS: Patch clamp techniques were used to study the cellular mechanism of the effect of Ang II on ICa,L in single guinea-pig ventricular cells. RESULTS: In the whole cell patch clamp recording model, Ang II stimulated ICa,L in a concentration dependent manner; the maximal effect was obtained at 100 nmol/L (n = 9). At 30 nmol/L, Ang II stimulated peak ICa,L from 11.3 +/- 0.6 pA/pF to 15.3 +/- 0.6 pA/pF (at + 10 mV, n = 9, P < 0.05). 100 nmol/L Losartan, a specific AT1 receptor inhibitor, had no effect on ICa,L (n = 9), but the effect of Ang II on ICa,L was inhibited by 100 nmol/L Losartan. Ang II on ICa,L was also inhibited by 20 mumol/L H-7, a specific protein kinase C inhibitor, whereas H-7 alone has no effect on ICa,L (n = 9). CONCLUSION: Ang II stimulates ICa,L in guinea-pig ventricular cells by binding to AT1 through a transduction pathway involving protein kinase C.

1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine↗
PubMed2000

Catalase activity in coronary artery endothelium protects smooth muscle against peroxide damage.

Cyclopiazonic acid contracts pig coronary artery de-endothelialized rings, and pretreating the rings with hydrogen peroxide (H(2)O(2)) inhibits this contraction (IC(50)=0.097+/-0.013 mM). We used the cyclopiazonic acid contraction to test the novel hypothesis that endothelium can protect underlying smooth muscle against luminal H(2)O(2). We perfused the arteries with Krebs' solution containing 0. 3 or 1 mM H(2)O(2), removing endothelium from the arteries either before or after the perfusion. We then cut rings from them to monitor their contraction to 10 microM cyclopiazonic acid in a H(2)O(2)-free solution. The inhibition of the cyclopiazonic acid contraction by perfusion with H(2)O(2) was significantly less when endothelium was removed after the perfusion than when it was removed before it. The specific activity of catalase in post-nuclear supernatants from freshly isolated endothelium (14.1+/-2.7 micromol/min/mg protein) was 17+/-3-fold greater than in those from smooth muscle (0.83+/-0.22 micromol/min/mg protein). Thus endothelium contained high catalase activity and protected the underlying smooth muscle against luminal peroxide.

Animals↗
PubMed2000

Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.

Glutaric acidemia type I is caused by mutations of the glutaryl-CoA dehydrogenase (GCDH) gene resulting in loss of GCDH enzyme activity. Patients present with progressive dystonia and lesions in basal ganglia. Dietary treatment, when instituted from the early neonatal period, markedly reduces dystonia and morbidity. Early diagnosis and prenatal diagnosis will be facilitated by knowledge of locally prevalent GCDH mutations. Several common GCDH mutations have been found in different ethnic groups. GCDH mutations were studied in 5 Chinese glutaric acidemia type I families. We detected two novel recurrent mutations (A219T and IVS10-2A>C) which were found in two unrelated families. An asymptomatic carrier of IVS10-2A>C was also found on screening of 120 individuals. Other mutations were identified, including two other novel (R386G & IVS3+1G>A) and two known mutations (G178R & R355H). Fibroblasts from patients carrying the novel mutations were confirmed to be deficient for GCDH activity. This is the first report of GCDH mutations describing recurrent mutations in Chinese patients. The carrier rate of IVS10-2A>C may be particularly high in Chinese.

Alternative Splicing↗