Objective To approach the involved position and regulation as well as the clinical characteristics of hereditary multiple exostoses(HME).Methods One HME pedigrees including men and women 7 cases respectively confirmed clinically and pathologically was analysed.Results The most common location of exostoses was metaphysis of long bones.No exostoses was found in craniofacial bone.Conclusion There is no sex difference in the incidence of HME and the location of exostoses is mostly at metaphysis of long bones in this family.

Objective To research the clinical therapeutic effect and side effect of gesterol- pingyangmycin cream in interventional therapy of hysteromyoma. Methods 110 cases of hysteromyoma underwent interventional therapy who were divided randomly into two groups:group A with polyvinyl alcohol particle and group B with gesterol-pingyangmycin cream .By percutaneous catheterization in bilateral uterine arteriae using the technique of Seldinger,polyvinyl alcohol particle or gesterol-pingyangmyci cream were injected to blodk up the blood supply of hysteromyoma.The volume of hysteromyomas was measured with B-mode ultrasonography prior and post-treatment.The reaction of post-treatment and the changes of menstrual blood volume were observed . Results The menstruation turned to normal and or menstrual blood volume reduced obviously in two groups , the total effective rate was 95.49 . The volume of hysteromyomas diminished to 45.81 and 51.80 in 3 and 6 months,respectively after treatment.There was significant difference between prior and post-treatment(P

Objective To analyze the clinical effects of low molecular heparin calcium on early onset severe pre-eclampsia.Methods Sixty patients with early onset severe pre-eclampsia at 26-34 weeks of gestational age were divided into treatment group(28 cases)and control group(32 cases).The conventional treatment was delivered in control group and low molecalar heparin calcium(LMWHC)was used in treatment group additionally.The time of prolonged gestational age,umbilical arterial S/D ratio,amniotic fluid index,placenta weight,neonatal weight and Apgar score were measured in two groups.Results The time of prolonged gestational age was 10.19 ±4.57days in treatment group and 6.14 ±3.56 days in control group,which were significantly different(P ＜ 0.01).Umbilical arterial S/D ratio,amniotic fluid index,placenta weight and neonatal weight were all significantly different between the two groups(P ＜ 0.05).Neonatal Apgar score in treatment group was remarkably improved(P ＜ 0.01).Conclusion LMWHC treatment in the patients with early onset severe pre-eclampsia could extend gestational age,increase neonatal weight and improve perinatal outcomes.

Objective To investigate the mutation characteristics in exon 7 of the PAH gene in phenylketonuria(PKU) patients in Xinjiang.Methods The mutations in exon 7 of PAH gene were detected by PCR/SSCP in 37 PKU patients.Results Five missense mutations including R243Q,L255S,E280G, E280K and P281L were identified in 74 chromosomes from 37 PKU patients,with relative frequencies of 18.9%,4.1%,1.4%,1.4% and 1.4% respectively.The frequency of mutant alleles in exon 7 was 27%. Among the five mutations,it was the second time the E280G mutation was reported in the world.In China,it was the second time the L255S,E280K and P281 L mutations were found.P281L and R243Q mutations were first found in 2 of Chinese Uygur.Considering the previous reports and the present study,R243Q was the most prevalent form in Asian PKU populations.P281L and E280K were two common mutations in PKU patients from European countries.However,E280G and L255S were two characteristic forms in Chinese. Condusions Characteristics of PAH gene mutations are shown in Chinese PKU population from Xinjiang, which is a special distribution belt that located between China and Europe.The results give a clue that Xinjiang could probably be an ideal genetic resource repertoire for studying diversity of gene mutations, heterogeneity of PAH gene,human genesis and migration.