Objective To report a case of Hutchinson-Gilford progeria syndrome,and to make a molecular genetic diagnosis.Methods Peripheral blood samples were collected from a 12-month-old child with HutchinsonGilford progeria syndrome,his parents,and 150 unrelated healthy controls.DNA was extracted from these samples,and PCR was performed to amplify exon 11 of the LMNA gene and its flanking sequence followed by sequencing.Results The patient presented with scleroderma-like tight skin on the trunk,hair loss and prominent scalp veins for 9 months,whose body height and weight were two standard deviations below the mean.Physical examination showed thin skin and prominent superficial veins over the scalp.The skin over the trunk was tight,hard,shiny and dry with a small number of tiny scales,mottled pigmentation and hypopigmentation,induration and hypertrophy giving a cobblestone-like appearance.The subcutaneous fat was diminished on the lower limbs.Skeletal X-ray examination of the left hand revealed phalangeal acroosteolysis.A known heterozygous mutation c.1824C ＞ T (dbSNP:rs58596362) was detected in the exon 11 of the LMNA gene in the proband,but not in his parents or the 150 unrelated healthy controls.Conclusion The mutation c.1824C ＞T in the LMNA gene may be responsible for Hutchinson-Gilford progeria syndrome in this patient.

Objective To understand the differences of residents'compliance through stool and serum examinations on schistosomiasis and evaluate the effect of schistosomiasis surveillance and control in Jiangshan City.Methods The local residents and floating population from 9 villages were sampled with the stratified cluster method and investigated for schistosomiasis through the stool examination(Kato-Katz technique)and serum examination(ELISA),and the results were analysed.Results The rates of the examination accepted of the 1st stool,2nd stool and serum were 92.2%,89.7% and 99.7%,respectively.There were significant differences of the rates of the stool examination accepted in different groups of age and education background(P

Objective To establish the model of distraction osteogenesis for rabbit femur bone defect, and to observe the effect of icariin on regenerate ossification after distraction osteogenesis, thus to find a method for promoting regenerate ossification after distraction osteogenesis. Methods After the rabbit model of bone defect had been established successfully, the rabbits were equipped with distraction device. And then the 24 modeled rab bits were randomly divided into 2 groups. The experimental group was injected with icariin extract of Herba Epimedii into the interspace of bone distraction, and the control group was given local injection of recombinant human bone morphogenetic protein-2 (rhBMP-2, 100μg/kg) . On week 0, 1, 4 and 6 after the resting period, X-ray photography was carried out in both groups. On week 6 after distraction osteogenesis, the bone specimens of distraction osteogenesis region in both groups were observed by micro-computerized tomography ( CT) for the comparison of bone mass, and bone mineral content and mineral density of the newly-formed bone. Results The results of the features of imageology, and the statistical data of the bone mineral content and density showed that osteogenesis speed and osteogenic quality of the experimental group were superior to those of the control group. Conclusion The rabbit model of distraction osteogenesis for femur bone defect has been established preliminarily, and icariin can promote the speed and quality of regenerate ossification after distraction osteogenesis.

Pneumonia is one of the leading causes of death in children under five years of age worldwide.Scholars at home and abroad have done more researches on the risk factors of death from pneumonia in children.They thought that risk factors for pneumonia deaths in children may include: infants, females, cold weather, lack of breastfeeding, malnutrition, infections with specific pathogens, underlying diseases, social and socioeconomic factors(such as air pollution, young mothers, low maternal education, low socioeconomic status of parents), etc.However, with the change of social environment, there are also increasing risk factors for pneumonia deaths in children.This review focuses on the risk factors of death from pneumonia in children.

Objective To report a case of Costello syndrome complicated by curis laxa,and to make a molecular genetic diagnosis.Methods Clinical data were collected from a case of Costello syndrome complicated by cutis laxa.Skin tissues were resected from the patient,and peripheral blood samples were obtained from the patient's parents and 150 unrelated healthy controls.Genomic DNA was extracted from these samples,and all the exons and their flanking sequences of the HRAS gene were analyzed by DNA sequencing.Results The 13-month-old female patient presented with growth retardation,severe malnutrition,coarse facial appearance,severely loose skin over the limbs,and decrease or disappearance of subcutaneous fat.A heterozygous mutation c.34G ＞ T (p.Gly12Cys) was detected in exon 2 of the HRAS gene in the patient,but not in her parents or 150 unrelated healthy controls.Conclusion The c.34G ＞ T (p.Gly12Cys) mutation in exon 2 of the HRAS gene may be responsible for Costello syndrome in the patient.