Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.

Wilson disease (WD), an autosomal recessive disorder of copper transport, is the most common inherited liver disorder in Hong Kong Chinese. This was the first local study to elucidate the molecular basis and establish an effective DNA-based diagnostic protocol. The ATP7B genes of 65 patients were amplified by polymerase chain reaction (PCR) and sequenced. Haplotype analysis was performed using D13S301, D13S314, and D13S316. The p.L770L/p.R778L status in 660 subjects was determined to estimate WD prevalence. Allele age of p.R778L was determined by the smallest homozygosity region between D13S301 and D13S270. We identified 42 different mutations with 17 being novel. p.R778L (17.3%) was the most prevalent. Exons 2, 8, 12, 13, and 16 harbored 70% mutations. Thirty-two haplotypes were associated with WD chromosomes. The estimated prevalence rate was 1 in 5,400. Three out of 660 normal subjects had p.L770L/p.R778L. In the remaining 657 individuals, neither p.L770L nor p.R778L was found. We characterized a Hong Kong Chinese-specific ATP7B mutation spectrum with great genetic diversity. Exons 2, 8, 12, 13, and 16 should be screened first. The perfect linkage disequilibrium suggested that p.R778L and its private polymorphism p.L770L originated from a single ancestor. This East-Asian-specific mutation p.R778L/p.L770L is aged at least 5,500 years.

Erratum to: Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity.

The correct name of the eighth author should be given as Sik-To Lai, not Jak-Yiu Lai.

Issues associated with dog bite injuries in children and adolescents assessed at the emergency department.

OBJECTIVES: The aim of this study was to determine the pattern of dog bites seen at the emergency department of a university hospital. The information will be used to plan prevention and enhance management strategies. METHODS: All patients (younger than 22 years) assessed at the emergency department between January 2003 and December 2004 with a discharge diagnosis of animal bites were identified through the computerized discharge network. RESULTS: One hundred forty-four incidents of animal bites (82 males and 62 females) occurred over the 2-year period. Eighty-nine percent was due to dog bites. Among the dog bite victims, the mean age was 11.82 years (SD, 6.39 years; range, 0.06-21.83 years). Family dogs were only involved in 15% of cases. The species of dogs were not recognized in three fifths, and attacks provoked in two fifths of victims. Most bites (90%) of bites involved only single anatomical sites. The extremities were commonly involved (right upper limb [23%], left upper limb [16%], right lower limb [35%], left lower limb [20%]). Torso (4%) and genitalia (0.8%) were uncommonly involved. Pain, erythema, bleeding, and bruising were common symptoms, but 60 patients were asymptomatic at presentation. Compared with older patients, children younger than 10 years had a much higher risk of facial injuries (25% vs. 2%, P = 0.0002; odds ratio, 21.8, 95% confidence interval, 2.9-455.9) and were more likely to be triaged as being urgent (P = 0.01). Most attacks were trivial and did not require hospitalization. Antirabies treatment was given in approximately half, analgesics in two fifths, and antibiotics in one fourth. CONCLUSIONS: In mammalian attacks, canines are most commonly involved. Most injuries are trivial, and the limbs are usually involved. However, younger children are at higher risk of facial injuries. Extent of pain and adverse psychological impacts are typically not documented in the emergency assessment.