Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Monilethrix is an autosomal dominant hair disorder characterized clinically by alopecia and follicular papules. In this study, we collected a Han monilethrix family to detect the mutations in patients and investigated the correlation between the genotype and phenotype of monilethrix.</p><p><b>METHODS</b>In this study, we identified a Chinese family with monilethrix through light microscopic and scanning electron microscopic (SEM) examination. Genomic DNA from peripheral blood samples was prepared. DNA samples from controls and monilethrix patients were subject to polymerase chain reaction (PCR) amplification. Two pairs of primers were used to amplify the seventh exon of KRT86. Mutation screening of the PCR products was detected using direct sequencing.</p><p><b>RESULTS</b>Light microscopic examination showed a regular alternate enlargement and narrow area. SEM examination showed that part of the cuticle of the nodules shed and disappeared gradually in the narrow area with granular protrusions on the surface similar to the erosion-like structure. Parallel longitudinal ridge and groovepattern appeared, and the ridges varied in width, like dead wood. A heterozygous transversion mutation c.1204G > A (p.E402K) in the seventh exon of KRT86 was identified in both patients.</p><p><b>CONCLUSIONS</b>The mutation of extron 7 of KRT86 identified plays a major role in the pathogenesis of this pedigree with monilethrix, and is a mutation hot spot of KRT86. Further research is needed to explore the relationship between the phenotype and the mutation of the type II hair keratin gene KRT86 of monilethrix.</p>

Liquid nitrogen freezing combined with 5-aminolaevulinic acid-photodynamic therapy for condyloma acuminatum in men / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the efficacy, adverse reaction and prognosis of liquid nitrogen freezing combined with 5-aminolaevulinic acid-photodynamic therapy (ALA-PDT) in the treatment of condyloma acuminatum in men.</p><p><b>METHODS</b>We collected medical histories and conducted physical examinations for 35 male patients with condyloma acuminatum in the outpatient department, and treated them by liquid nitrogen freezing combined with ALA-PDT every 7-10 days. We recorded the skin lesions and adverse events each time and followed up the patients at 4 and 24 weeks after treatment.</p><p><b>RESULTS</b>The 35 patients were aged 17-71 (median 31) years, and their average course of disease was 30-180 (mean 60) days. The skin lesion area was reduced remarkably after 3 times of liquid nitrogen freezing combined with ALA-PDT, 16-140 (median 38) mm2 for the first time, 6-63 (median 13) mm2 for the second, and 0-10 (median 3) mm2 for the third, with statistically significant differences (P < 0.01). Two cases (5.7%) relapsed at 4 weeks and 4 cases (11.4% ) at 24 weeks.</p><p><b>CONCLUSION</b>Liquid nitrogen freezing combined with ALA-PDT is better than either liquid nitrogen freezing or ALA-PDT alone for the treatment of condyloma acuminatum in men.</p>

Differences in serum retinol level between the breastfed and non-breastfed children aged 0 to 23 months / 中华流行病学杂志

<p><b>OBJECTIVE</b>Some recent studies found that high prevalence of vitamin A deficiency in the breastfed children. This study aimed to understand the differences in serum retinol level between breastfed and bottle-fed children aged 0 to 23 months and the possible causes of low level of serum retinol for the breastfed children.</p><p><b>METHODS</b>Data for children aged 0 to 23 months were extracted from a population-based cross sectional study for vitamin A nutrition status. Fluorescence method was used to measure the serum retinol. Mothers or caregivers were asked to answer a pre-designed questionnaire and socioeconomic status, peri-natal care, breastfeeding status, morbidity histories and other related factors were collected. Semi-quantitative food frequency questionnaire was used to investigate the child's dietary intake one week prior to the survey. Data were analyzed using SAS 8.1.</p><p><b>RESULTS</b>Of 401 children aged 0 to 23 months, the breastfeeding rate was 50.37%. The means of the serum retinol level between bottle-fed (30.67 +/- 0.57) microg/dl and the breastfed children (27.60 +/- 0.56) microg/dl was significantly different (P < 0.01). The corresponding figures were (31.82 +/- 0.98) microg/dl and (29.46 +/- 0.96) microg/dl after adjustment for confounders, which also showed significant difference (P < 0.01). After stratified by age groups, the breastfeeding rates in the 0-, 6-, 12- and 18-months groups were 92.1%, 70.1%, 32.0% and 17.1%, respectively. We calculated the difference in means of the serum retinol level between the bottle-fed and breastfed children for each of four age groups, and the 95% confidence limits of the differences. The differences in means and the 95% confidence limits for 0-, 6-, 12- and 18-months group were 4.70 microg/dl (-2.52-1.92), 0.82 microg/dl (-2.32-3.95), 2.95 microg/dl (-0.68-6.58) and 6.05 microg/dl (2.34-9.77), respectively. After adjustment for confounders and covariates, the adjusted figures were 0.00 microg/dl (-7.18-7.19), 1.35 microg/dl (-1.76-4.45), 2.92 microg/dl (-0.82-6.65) and 4.26 microg/dl (0.71-7.81), respectively. The significant difference in means of serum retinol level was only found in the 18-months group before or after adjustments (P < 0.01 for both). The Cochrane-Atmitage chi square trend test showed that the breastfed children tended to have lower frequencies of complementary dietary intakes than that of the bottle-fed aged 12 months and above.</p><p><b>CONCLUSIONS</b>The breastfed children aged 0 to 23 months had relative low serum retinol level while compared with the bottle-fed. However, the significant differences seemed to be only confined to those aged 18 months and above. Low level of vitamin A in breast milk and low frequent complimentary food supplements might have served as the potential for the differences.</p>