Brca1 and Brca2 protein expression patterns in different tissues of murine origin

We have analyzed by immunohistochemistry Brca1 and Brca2 protein expression in mouse during embryonic development, in adult tissues, and during postnatal mammary gland development. Our observations confirm previous localization of Brca1 and Brca2 mRNA on frozen sections by in situ hybridization, and demonstrate that Brca1 and Brca2 proteins are expressed in rapidly proliferating cell types undergoing differentiation. These results imply that Brca1 and Brca2 proteins are involved in the process of proliferation and differentiation in multiple tissues, notably in the mammary gland during pregnancy and lactation.     

Relationships between dietary intake and cognitive function level in Korean elderly people

We examined the relationship between dietary intake and cognitive performance in Korean elderly people. Data for dietary intake, anthropometric measurements and cognitive function tests were collected and the relationships of the variables were analyzed. A random sample of 210 men and 239 women in Korea, aged 60 and over, was selected. Subjects were free-living elderly people who had not experienced major cognitive function impairment. Main outcome measures, 24 h dietary recall method, food behaviour variables, anthropometrics indices, health variables, and Kwon's Mini-Mental State Examination for Koreans (MMSE-K) for cognitive function test. The prevalence rate of poor cognitive function (MMSE-K score < or = 19) of Korean elderly was 22.3%: women with poor cognitive function had a higher rate (31.0%) than that in men (12.3%). Cognitive ability was related negatively with age and positively with school education level. Female subjects of poor cognitive function had significantly lower intakes of total amount of foods, cereals, vegetables, fruits, milk, spices, and also, energy, protein, fat, carbohydrate, Ca, P, Fe, vitamin A, thiamin, riboflavin, and niacin than those of the normal cognitive score (> or = 24) group (P < 0.05). Male subjects of poor cognitive function had significantly lower intakes of fruits, fiber, and vitamin C than the normal subjects (P < 0.05). The MMSE-K score of female subjects showed a significant positive correlation with total amount of foods, cereals, beans, fruits, milk, oil, spices, and energy, protein, fat, carbohydrate, Ca, Fe, P, riboflavin and niacin intakes. The consumption of adequate nutrients, by taking sufficient amounts and variety of foods, may be important in maintaining adequate cognitive function in elderly Koreans.     

Treatment of vitiligo with khellin liposomes,ultraviolet light and blister roof transplantation

Background Various surgical and non‐surgical methods are available to treat vitiligo. Surgical techniques such as epidermal blister graft transplantation may be effective for the re‐pigmentation of stable, but refractory vitiligo areas. Khellin has phototherapeutic properties that are similar to those of the psoralens, but with substantially lower phototoxic effects and DNA mutation effects. Its penetration into the hair follicles is enhanced by encapsulating it into liposomes. Subsequent activation of the khellin with UV light stimulates the melanocytes in the hair follicles. Objective The first objective was to evaluate the additional value of combining blister roof transplantation (BRT) with khellin in liposomes and ultraviolet light (KLUV) in the treatment of recalcitrant vitiligo patches. The second objective was to assess patients’ satisfaction. Materials and methods Nineteen patients with vitiligo lesions which did not respond to KLUV treatment for at least a year were treated with BRT followed by KLUV. The transplantation was performed by creating blisters with a suction device, preparing the target site with Erbium laser ablation and the actual transplantation. Locations where randomly assigned. A blinded observer established the results. Results Seventy‐five percent of the patients were satisfied with the cosmetic result. All of the patients would recommend the treatment to other vitiligo patients. More than 75% re‐pigmentation of the vitiligo areas was noted in 47% of the patients according to the blinded evaluation of photographs taken before and after the treatment.     

Kuzbanian基因非放射性原位杂交探针制备

目的研究制备地高辛(DIG)标记的Kuzbanian(KUZ)基因非放射性原位杂交探针,用于检测转基因动物、正常组织KUZ基因的表达。方法用体外转录法依自构建质粒pcDNA-KUZFL(质粒:6.0kb;探针:623bp)和pcDNA-KUZDN(质粒:5.8kb;探针:360bp)制备反义链与正义链DIG标记cRNA探针。结果用转基因模型阳性与阴性对照品系动物小鼠胰岛组织非放射性原位杂交实验,证实制备探针具有较高的特异性和敏感性。结论DIG标记KUZ基因杂交探针的成功制备,为进一步研究有关转基因动物的KUZ基因的分布和表达以及为正常组织KUZ基因的有关研究提供了实验基础。     

Asbestos-related occupational lung diseases. Role of the pneumology unit in screening and compensation

The application of new decrees concerning the protection of individuals against sanitary risks linked to the various possible expositions to asbestos dusts is leading to a growing involvement of pulmonologists in diagnosis procedures not only for active workers regularly examined via the occupational medicine healthcare system, but also for those who are no longer, the unemployed or retired previously exposed to asbestos fibres. The present chapter presents and comments the revised guidelines about the compensation procedures for occupational diseases, and provides useful recommendations for establishing the records leading to their medical assessment. It emphasises the importance of a close cooperation between pulmonologists and radiologists in order to avoid radiation overdosing, which could increase the risk of lung cancer, as much as possible.     

Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers

High‐throughput sequencing analysis represented both a medical diagnosis and technological revolution. Gene panel analysis is now routinely performed in the exploration of hereditary predisposition to cancer, which is becoming increasingly heterogeneous, both clinically and molecularly. We present 1530 patients with suspicion of hereditary predisposition to cancer, for which two types of analyses were performed: a) oriented according to the clinical presentation (n = 417), or b) extended to genes involved in hereditary predisposition to adult cancer (n = 1113). Extended panel analysis had a higher detection rate compared to oriented analysis in hereditary predisposition to breast / ovarian cancer (P < .001) and in digestive cancers (P < .094) (respectively 15% vs 5% and 19.3%, vs 12.5%). This higher detection is explained by the inclusion of moderate penetrance genes, as well as the identification of incident mutations and double mutations. Our study underscores the utility of proposing extended gene panel analysis to patients with suspicion of hereditary predisposition to adult cancer.