Mutation analysis of the keratin 9 gene in a pedigree with diffuse epidermolytic plamoplantar keratoderma / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the mutation of the keratin 9 gene (KRT9) in a pedigree with epidermolytic plamoplantar keratoderma (EPPK).</p><p><b>METHODS</b>Blood samples were obtained from 4 affected and 3 normal individuals in this family. Mutation screening was carried out by polymerase chain reaction (PCR) and direct DNA sequencing.</p><p><b>RESULTS</b>A heterozygous nucleotide C to T transition at position 484 in exon 1 of the KRT9 gene was detected in the 3 affected in this family, but was not found in normal individuals in the family and 100 unrelated individuals.</p><p><b>CONCLUSION</b>A missense mutation (484 C to T) in the KRT9 gene has been detected in this EPPK family, which is probably one of the molecular bases of the pathogenesis of the disease.</p>

Analysis on the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyse the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria (DSH).</p><p><b>METHODS</b>A pedigree of DSH was investigated. Mutation scanning was carried out by PCR and direct sequencing. ADAR gene of 50 normal people was also sequenced as control. Through CBMdisc and PubMed, the mutations of ADAR gene were summarized.</p><p><b>RESULTS</b>A novel mutation of c.2447G > A was found in all patients with DSH, but was not found in normal individuals in this DSH family and 50 unrelated controls. There were 64 mutations in ADAR gene.</p><p><b>CONCLUSION</b>A deletion mutation (c.2447G > A) in the ADAR gene has been detected in this DSH family, which is probably one of the molecular bases of the pathogenesis of the disease. Author have summarized a total of 64 mutations in the ADAR gene by previous reports and speculate that the mutation hotspots of ADAR gene might be located in the tRNA-specific and double-stranded RNA adenosine deaminase (ADEAMc) domain.</p>

Study on the compliance and safety of the oral antifungal agents for the treatment of onychomycosis / 中华流行病学杂志

<p><b>OBJECTIVE</b>To explore the rate of compliance, influencing factors and the safety of patients with onychomycosis under treatment of oral antifungal agents.</p><p><b>METHODS</b>According to the scoring clinical index of onychomycosis (SCIO), 330 patients with onychomycosis, their target nail's integral of the SCIO were calculated and randomly divided into three groups under the baseline of the SCIO integral range. Patients were treated with intermittent pulse itraconazole (A group), continuous terbinafine (B group) and intermittent terbinafine (C group) respectively. Self-administered questionnaire was applied in the survey on every onychomycosis patient.</p><p><b>RESULTS</b>The average rate of compliance was 55.15%. The cure rate for those compliance with doctors' order was 89.01%, while it was only 30.41% for those noncompliant patients The overall non-compliant rate was 44.85%. Among the noncompliant ones, 29.73% were worried about the side effects of medicine, 22.30% thought that they had already been cured, 15.54% was due to economic reasons and 12.16% could not bear the side effects of medicine. It was found that the compliant rates were significantly correlated to ageing, position of the target nails, the integral of the SCIO and the therapy scheme (P < 0.05), while no significant correlations were seen between male and female, culture degree and course (P > 0.1). The frequency of adverse incident of A, B, C groups were 22.73%, 21.43%, 23.15% respectively, but without statistical significance (P > 0.1). Majority of the adverse incidents happened during the first month of therapy but were mild and reversible.</p><p><b>CONCLUSION</b>Our results showed that the overall compliance was low which exerted a significant influence on the curative effect of onychomycosis patients. Factors as ageing, position of the target nail, integral of the SCIO and the therapy scheme had an influence on the compliant rate. When treating onychomycosis with oral itraconazole, the results seemed to be just as safe as when using terbinafine.</p>