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Sludge liquor from the sludge dewatering process has a high ammonia content. In the present study, a lab-scale electrochemical (EC) system with a pair of Ti electrode plates was used for treating the sludge centrate liquor of digested wastewater sludge with a NH4+ -- N content of around 500 mg/L. The sludge liquor had a high salinity due to seawater being used for toilet flushing in Hong Kong. The results show that the EC process is highly effective for denitrification of the saline sludge liquor. Complete nitrogen removal could be achieved within 1 hr or so. The rate of EC denitrification increased with the current intensity applied. The best current efficiency for nitrogen removal was obtained for a gap distance between the electrodes at 8 mm. Electro-chlorination was considered to be the major mechanism of EC denitrification. The formation of chlorination by-products (CBPs) appeared to be minimal with the total trihalomethanes (THM) detected at a level of 300 µg/L or lower. The power consumption for EC denitrification was around 23 kWh/kg N. Additional electro-flocculation with a pair of iron needle electrodes could enhance the flocculation and subsequent sedimentation of colloidal organics in the sludge liquor, increasing the organic removal from less than 30% to more than 70%. Therefore, the EO process including both electro-denitrification and electro-flocculation can be developed as the most cost-effective method for treatment of the saline sludge liquor. [ABSTRACT FROM AUTHOR]

This paper presents key findings of a situational analysis of institutional and structural levels of HIV/AIDS-related discrimination in Beijing, China, with a focus on the area of health care. Initially slow to respond to the presence of HIV, China has altered its approach and enacted strict legislative protection for people living with HIV/AIDS (PLWHA). In order to determine whether this has altered discrimination against PLWHA, this study examined existing legislation and policy, and interviewed key informants working in health care and PLWHA. The overall findings revealed that discrimination in its many forms continued to occur in practice despite China's generally strong legislative protection, and it is the actual practice that is hindering PLWHAs’ access to health services. A number of legislative and policy gaps that allow discrimination to occur in practice were also identified and discussed. The paper concludes with a call to rectify specific gaps between legislation, policy and practice. An understanding of the underlying factors that drive discrimination will also be necessary for effective strategic interventions to be developed and implemented. [ABSTRACT FROM AUTHOR]

Background: When cell-free DNA (cfDNA) testing is used as a secondary screening tool following combined first-trimester screening (cFTS), cFTS is used to estimate the prior risk for chromosome abnormalities. This study aimed to assess the factors that are associated with common and atypical abnormalities following cFTS, including cFTS risk, advanced maternal age, increased nuchal translucency (NT) ≥3.5 mm, and abnormal levels of serum markers., Methods: We reviewed a historical cohort of 1855 Chinese women carrying singleton pregnancies with a positive cFTS [at a threshold of 1:250 for trisomy (T) 21 or 1:180 for T18] in one public hospital over a five-year period. All chromosome abnormalities were confirmed by invasive prenatal diagnosis (IPD) with karyotyping, with or without array comparative genomic hybridization. Using multivariable binary logistic regression analysis, we determined the parameters that were associated with common and atypical abnormalities., Results: Overall, the prevalence of common and atypical abnormalities was 6.2 and 1.2%, respectively, and the prevalence increased with the risk of T21 by cFTS. In pregnancies with a risk of T21 > 1 in 100, a high risk of both T21 and T18, an increased NT, or a pregnancy-associated plasma A (PAPP-A) level <  0.2 multiple of medians (MoM), the prevalence of common abnormalities was 12.2, 64.7, 25.5 and 33.8%, respectively, while that of atypical abnormalities was 1.6, 3.9, 4.2, and 7.4%, respectively. In the multivariable binary logistic regression analysis, out of these four factors, only two (increased NT and PAPP&#95;A <  0.2 MoM) were significant predictors of common and atypical abnormalities, respectively. Of all positive cFTS pregnancies, 50.4% did not have any of these four factors, and the prevalence of common and atypical abnormalities was 1.1 and 0.6%, respectively. There were three atypical abnormalities, all of which were mosaicism, and they were detected among women with IPD alone. The ages of these women were ≥ 35 years. All three pregnancies were continued after proper counseling. After giving birth, only one child had mild abnormalities, while the other two were phenotypically normal., Conclusions: Our study identified factors associated with common and atypical abnormalities after cFTS. These factors can be used to estimate the prior risk for these abnormalities to help with post-cFTS counseling in terms of choosing between cfDNA testing and IPD.

Central core myopathy is a rare, inherited neuromuscular disorder with a wide spectrum of phenotypic presentations. It is also considered an allelic disease of malignant hyperthermia. We report a case of central core myopathy in a Chinese adolescent boy presenting with atypical clinical features and a moderately elevated serum creatine kinase level. The diagnosis was made from the histopathological findings of central cores on muscle biopsy, and confirmed by the molecular genetic testing for the RYR1 gene mutation. This is the first case of central core myopathy confirmed by molecular study in our locality.

Kearns-Sayre syndrome is a rare disorder often caused by mitochondrial DNA rearrangement. The most commonly reported mitochondrial DNA deletion is 4977 bp in size spanning nucleotides 8469 and 13447. The clinical signs of Kearns-Sayre syndrome include chronic progressive external ophthalmoplegia, retinitis pigmentosa, heart block and cerebellar ataxia, as well as other heterogeneous manifestations including neuromuscular problems and endocrine disorders. Cardiac conduction defects can develop insidiously, leading to sudden death sometimes if not promptly recognised. This report focuses on the diagnosis of Kearns-Sayre syndrome in a Chinese girl who presented initially with short stature, delayed puberty, insidious onset of ptosis and later with typical features of Kearns-Sayre syndrome including complete heart block. Genetic analysis disclosed a novel 7.2 kilobases deletion in muscle tissue. Mitochondrial diseases have heterogeneous phenotypes and mutational analysis has proven to be an effective tool for confirming the diagnosis.

Hereditary spastic paraplegias are a heterogeneous group of chronic central motor system disorders, characterised by progressive lower limb spasticity. Hereditary spastic paraplegia is clinically classified into pure and complicated forms, by the absence or presence of additional neurological or extra-neurological features. Hereditary spastic paraplegias follow all modes of inheritance and the pure-form autosomal dominant type is the one most commonly reported. Spastic paraplegia 4, autosomal dominant (SPG4, MIM#182601) and spastic paraplegia 3, autosomal dominant (SPG3A, MIM#182600), account for most autosomal dominant hereditary spastic paraplegias. Using DNA mutation analysis, the authors identified an SPG3A missense mutation (p.R239C) in a Chinese family where three members have early-onset pure spastic paraplegia. To our knowledge, this is the first report of a gene mutation in hereditary spastic paraplegias in our locality. DNA-based diagnosis plays a key role in the early diagnosis of familial hereditary spastic paraplegias.

Background: The BRCA1 gene is an important breast-cancer susceptibility gene. Promoter polymorphisms can alter the binding affinity of transcription factors, changing transcriptional activity and may affect susceptibility to disease., Methods and Results: Using direct sequencing of the BRCA1 promoter region, we identified four polymorphisms c.-2804T-->C (rs799908:T-->C), c.-2265C-->T (rs11655505:C-->T), c.-2004A-->G (rs799906:A-->G) and c.-1896(ACA)(1)-->(ACA)(2) (rs8176071:(ACA)(1)-->(ACA)(2)) present in Hong Kong Chinese. Each polymorphism was studied independently and in combination by functional assays. Although all four variants significantly altered promoter activity, the c.-2265T allele had stronger binding than the C allele, and the most common mutant haplotype, which contains the c.-2265T allele, increased promoter activity by 70%. Risk association first tested in Hong Kong Chinese women with breast cancer and age-matched controls and replicated in a large population-based study of Shanghai Chinese, together totalling >3000 participants, showed that carriers of the c.-2265T allele had a reduced risk for breast cancer (combined odd ratio (OR) = 0.80, 95% CI 0.69 to 0.93; p = 0.003) which was more evident among women aged >or=45 years at first diagnosis of breast cancer and without a family history of breast cancer (combined OR = 0.75, 95% CI 0.61 to 0.91; p = 0.004). The most common haplotype containing the c.-2265T allele also showed significant risk association for women aged >or=45 years without a family history of breast cancer (OR = 0.64, 95% CI 0.46 to 0.89; p = 0.008)., Conclusion: This comprehensive study of BRCA1 promoter polymorphisms found four variants that altered promoter activity and with the most significant contribution from c.-2265C-->T, which could affect susceptibility to breast cancer in the Chinese population. Its significance in other populations remains to be investigated.

In order to collect local data for children with Benign Childhood Epilepsy with Centrotemporal Spikes (BECTS), we conducted a retrospective study of 50 Chinese children (32 males and 18 females) with BECTS diagnosed in two regional hospitals in Hong Kong from 1995 to 1998. Their peak age of onset was 7 years (range 3-13 years) and a male predominance was observed. Seven patients (14%) had a past history of febrile convulsions and five cases (10%) had a family history of epilepsy. The presentation was protean, but most of them had infrequent, short, nocturnal generalised seizures. The EEG spike foci were most frequently found in mid-temporal regions, followed by centrotemporal regions. Fourteen percent of children did not require anti-epileptic drug treatment. For those who were treated, they were easily controlled on a low dose of carbamazepine (median dosage of 12.75 mg/kg per day) or sodium valproate (median dosage of 20 mg/kg per day). Our study suggested a generally good prognosis for BECTS. No risk factors of frequent seizure recurrence could be identified.

Germline mutations in the BRCA1 and BRCA2 genes predispose women to breast and ovarian cancer. An incidence of 5% and 3.3% respectively has been reported of BRCA1 and BRCA2 mutations in women with ovarian cancer unselected for family history. The contribution of BRCA1 and BRCA2 mutations to ovarian cancer in Chinese women is unknown. A total of 60 samples of ovarian cancer diagnosed in Chinese unselected for age or family history were analyzed for BRCA mutations using the protein truncation test. The entire coding exon of BRCA1 of 53 cases and that of exon 11 of BRCA2 of 43 cases were successfully screened. Six germline (11.3%) mutations (633C>T, 1080delT, 1129delA, 2371-2372delTG, 3976-3979delGTGA, and IVS 22+7 A>G) were detected in BRCA1. One germline mutation (3337C>T) (2.1%) was detected in BRCA2. None of these seven cases were associated with strong family history of breast and/or ovarian cancer. Five out of our six BRCA1 mutations and the one BRCA2 mutation identified are novel. Our 11.3% incidence of BRCA1 mutations in ovarian cancer found amongst Chinese with insignificant family history is apparently higher than that previously reported in other populations. It suggests that BRCA1 mutation may play a significant role in the development of sporadic ovarian cancer in Chinese women., (Copyright Wiley-Liss, Inc.)

Signal-averaged electrocardiograms (SAECGs) have been found to be influenced by sex and anthropometry in adults. The purpose of this study was to evaluate this relationship in children. Total filtered QRS duration (TQRS), duration of high-frequency, low-amplitude signals in the terminal portion of the QRS complex that were less than 40 microV (HFLA) root-mean-square voltage in the last 40 ms of the filtered QRS (RMS40) were determined by high-resolution electrocardiographic (ECG) recording (MAC 15 ECG System, Marquette Electronics, Milwaukee, WI). These parameters were correlated with age, sex, body weight, height, relative weight, body mass index, and body surface area. As HFLA and RMS40 were not normally distributed, they were logarithmically transformed for regression analysis. The best subset multiple regression procedure was used to evaluate the variables that would optimally influence SAECG measurements and to obtain regression equations for the prediction of each SAECG parameter. Although univariate analysis shows that almost all the body characteristics and age are significantly correlated with SAECGs, multiple regression analysis reveals that TQRS is significantly influenced by height (P < .0001), relative weight (P = .012), and body mass index (P = .041); HFLA is influenced by weight (P = .001), height (P = .004), and body mass index (P = .001); and RMS40 is influenced by height (P < .0001) and relative weight (P = .001). Sex is noted to significantly influence both TQRS and RMS40 (P < .0001, P = .002, respectively), while HFLA is found to be significantly related to age (P = .001). In summary, SAECGs in Chinese children are shown to be influenced by height, weight, and relative weight or body mass index, but not body surface area, while age and sex also significantly contribute to the variation of some SAECG parameters.

In a study of 30 Chinese epileptic children, 43% had poor seizure control. The average daily dose of phenytoin was 6.1 +/- 0.53 mg/kg, and the mean plasma level was 4.2 +/- 0.63 microgram/ml, as determined by the enzyme immunoassay (EMIT) method. The phenytoin plasma level (microgram/ml) versus daily dose (mg/kg) ratios in 73% of these patients were below 1. The average daily dose of phenobarbitone was 5.1 +/- 0.36 mg/kg, and the mean plasma level was 24.8 +/- 1.7 microgram/ml -- also estimated by EMIT. Only one patient showed adverse effects. Poor seizure control in patients was chiefly due to subtherapeutic concentrations of phenytoin, which cannot be attributed to poor patient compliance. The presence of phenobarbitone might have accelerated phenytoin metabolism, or the drug could have been lost through sweating. The pharmacokinetics of phenytoin in these Chinese children may be genetically different and might have caused the subtherapeutic phenytoin levels.

A retrospective analysis of the clinical features and outcome of 39 Chinese children with Kawasaki syndrome was made. The mean age of onset was 2.7 years (range: 0.2-13 years). The male:female ratio was 2.9:1. One child presented with nephrotic syndrome. This renal manifestation has not been described in Kawasaki disease. Ten (32%) out of 31 patients were found to have coronary aneurysms by cross-sectional echocardiography. The only significant risk factor detected in this group of patients was anaemia (P less than 0.007). There was one (2.5%) death from acute myocardial infarction and the rest of the patients were clinically well with a mean follow-up period of 1 year (mean: 5-40 days). This study indicates that there is a high incidence of coronary aneurysm complicating Kawasaki syndrome in Chinese comparable with that reported in Japanese children.