Genetic factors are the important reasons for birth defects.Among genetic factors,chromosome abnormality is the most common.Prenatal diagnosis can effectively avoid fetus of abnormal chromosome being born.Noninvasive prenatal diagnosis has more advantage than invasive prenatal diagnosis,such as non-invasive,painless and safe.It is bound to become the main method of prenatal diagnosis.However,non-invasive prenatal diagnosis is still in its infancy stage and the accuracy and sensitivity of detection are pending and need further clinical validation.This article will present a variety of non-invasive prenatal diagnostic methods using cell-free fetal DNA (RNA) and their advantages and disadvantages will be discussed.

With the development of funcgonal laboratory teaching,the advantages of integrating laboratory resources have been embodied in someway,improving the students'experiment level and their comprehensive analysis ability.But many new problems have also shown up such as unreasonable curriculum,construction of teaching staff.By reinstalling experiment courses,integrating the experiment teaching staff,and exploring the solution to the existing problems,the teaching quality of functional experiment can be promoted

The analysis of the results of the renal replacement therapies,renal transplantation for 23 cases,hemodialysis for 33 cases,in 56 elderly patients with chronic renal function failure was performed.The total mortality in transplanted group with a higher early mortality is lower than that in hemodialysis group.The living quality of transplanted group was better than of the hemodialysis group.The associated diseases prior to the replacement therapies were the contributions to the death.It was believed that the age has not been served as a limitation for elderly patients receiving renal transplantation. As a replacement therapies the operation should be choosed first by elderly patients.A strictly preoperative physical examination should be done and a postoperatively special cure plan that is suited to the elderly drawn up.

The pathogenesis of pulmonary tuberculosis involves inflammatory mediators reaction,and the pathogenesis of lung cancer is complex,involving multiple genes and molecules.The lung cancer has some relevance with pulmonary tuberculosis in terms of immune abnormalities,antituberculosis drugs,scar repair,chronic inflammation and tuberculin virulence.The treatment of tuberculosis patients with lung cancer is limited to chemotherapy,surgery and radiotherapy.

The CAPN10 gene, which encodes calpain-10 ( CAPN10 ), a nonlysosomal cysteine protease expressed in many tissues, including skeletal muscle, liver, and pancreas, was positionally cloned within the NIDDM1 region. This putative diabetes susceptibility gene encodes a 672 amino-acid protein. Horikawa et al, determined that the CAPN10 gene consists of 15 exons and spans 31 kb. Recently, researchers in many countries have examined the impact of CAPN-10 gene on T2DM. The three SNPs existence simultaneously can increase threefold risk of T2DM. The correlation between them with racial diversity is also reviewed.

The incidence trend of different kinds of ocular diseases is different among areas and races.Study on the epidemiology survey of ocular diseases is meaningful for prevention,etiology,diagnosis and treatment of diseases,and also can provide the theoretical basis for the administration to establish preventive policies.This review summarized the results of the epidemiology survey of ocular diseases from different countries in recent years.

Objective To investigate expression of elastin,lysyl oxidase (LOX)and elafin in cardinal ligament of women with pelvic organ prolapse(POP) so as to determine their contributions to POP.Methods The cardinal ligament samples were obtained from 60 POP subjects and 60 non-POP control women undergoing hysterectomy.RT-PCR was used to verify the mRNA level of elastin,LOX and elafin.The protein concentration of the three genes was determined by western blotting technique,electrophoretic separation and quantification.Results The premenopansal and postmenopausal POP groups demonstrated significantly decreased expressions of elastin in cardinal ligament both in mRNA and protein levels than control group (mRNA 0.42±0.22,0.26±0.20 versus 0.79±0.30,0.63±0.23 ; protein 0.44±0.32,0.20±0.19 versus 0.89±0.27,0.78±0.25; P＜0.05).There was an identical tendency in the expression of LOX (mRNA 0.37±0.18,0.20±0.14 versus 0.65±0.22,0.53±0.20; protein 0.45±0.27,0.26±0.21 versus 0.85±0.39,0.69±0.31 ; P＜0.05).In POP group,the mRNA and protein levels of elastin and LOX in postmenopansal patients were significantly lower than premenopansal patients (P＜0.05).Inversely,POP group demonstrated an increased expression of elafin in cardinal ligament both in mRNA and protein levels than corresponding control group (mRNA 1.33±0.35,1.47±0.37 versus 0.62±0.25,0.55±0.24; protein 0.85±0.30,0.76±0.35 versus 0.21±0.15,0.29±0.22; P＜0.05). There was no significant difference in the expression of elafin between premenopansal and postmenopausal POP groups either in mRNA or protein levels(P＞0.05).There was a positive correlation between elastin and LOX both in mRNA and protein levels in POP group(r=0.9959,0.9708; P＜0.05),but there was no correlation between elastin and elafin(r=-0.0402,-0.0365;P＞0.05).Conclusions The results suggest that the decreased expression of elastin and LOX and the increased expression of elafin in the cardinal ligaments may contribute to POP.

Objective: To investigate the association between the polymorphism of HLA-A, HLA-B genes and pre-eclampsia. Methods: HLA-A, HLA-B genotyping was performed by polymerase chain reaction sequence-specific primer (PCR-SSP) in 119 preeclampsia patients, 117 normal pregnant women and their neonates. Results: The study showed that 16 HLA-A and 39 HLA-B alleles were obtained in pre-eclamptic patients and normal pregnant women. 15 HLA-A and 37 HLA-B alleles were obtained in their neonates. No significant difference was found in maternal or neonatal HLA-A, HLA-B alleles be-tween pre-eclampsia group and control group (Pc>0. 05). The frequencies of HLA-A11, HLA-A24,HLA-B13, HLA-B14, HLA-B15, HLA-B52 maternal/fetus genetic assoications were significantly different between pre-eclampsia group and control group (P<0. 05). Conclusion: Some HLA-A, HLA-B maternal/fetus special bindings may be associated with the susceptibility or protective of pre-eclampsia.

Benign symmetrical lipomatosis (BSL), or Madelung's disease, is a rare disease characterized by he progressive growth of diffuse, painless, non-enveloped symmetric lipomas at typical sites in the body. The etiology of this disease remains unknown. A disturbance of lipid metabolism is involved, and there is a proven connection with chronic alcoholism. Problems with the differential diagnosis of the characteristic clinical picture arise from the fact that this disease is not widely recognized. Surgical lipectomy in several sessions can relieve pressure and provide satisfactory patient functional recovery as well as cosmetic disfiguration.
Alcoholism ; complications ; Diagnosis, Differential ; Humans ; Lipectomy ; Lipomatosis, Multiple Symmetrical ; complications ; diagnosis ; surgery

Objective To investigate the expression of human telomerase RNA component (hTERC)gene in cervical scraping samples, and the relationship between hTERC gene and cervical lesions. Methods The fluorescent in situ hybridization (FISH) was used to detect the expression of hTERC oncogene in cervical scraping samples in 100 cases, including 76 cases with cervical intraepithelial neoplasia, meanwhile, high risk human papillomavirus (HR-HPV) were detected by Hybrid Capture 2 (HC2) . The other 24 cases were negative for intraepithelial lesion (NILM). Results The positive expression rates of the hTERC gene in NILM,ASCUS, ASC-H, LSIL, HSIL and cervical cancer were 0, 32.25 %, 75.00 %, 35.71 %, 81.81 % and 100.00 % respectively. hTERC gene positive expression in normal group was less significantly than that in abnormal groups (P <0.05). There was a significantly difference between HSIL and ASCUS, LSIL (x2 = 6.1736, x2 =5.0004, P <0.05). The positive expression rates of the HR-HPV in ASCUS, ASC-H, LSIL and HSIL or higher lesions were 54.80 %, 75.00 %, 60.70 %, 90.90 % and 100.00 % respectively. HR-HPV positive expression in HSIL or higher lesions were more significantly than that in ASCUS group (x2=4.1767, P<0.05). Conclusion The overexpression of hTERC gene may play an important role in cervical carcinogenesis, therefore it can be used as a better tumor marker for prospective in early cervical cancer progresses.