Asian Continental Ancestry Group ; Humans ; Language ; Medicine, Chinese Traditional ; Translations

1 The history and main problems in prenatal diagnosis and clinical diagnosis of inherited diseasesPrenatal diagnosis is to diagnose the fetal congenital defects and inherited diseases. In the earlier 1970s, thegroup of prenatal diagnosis in Peking Union Hospital was founded by Dr. Qiao-zhi LIN?Meanwhile, under the lead-ership of Dr. LIN, the group successfully completed the culture of amniotic fluid cells and began to diagnose fetalchromosomal diseases in the second trimester of pregnancy. In 1988, they succeeded in diagnosing chromosomaldiseases by taking the chorionic villus in the early pregnancy. Since then, the genetic and prenatal counseling tothose women who previously had children with severe defects were gradually developed. The work of the Peking U-nion Hospital developed prenatal diagnosis in our country. In 1990s, due to the unsettled problems about the posi-tion of technicians in prenatal and genetic disease diagnosis in medical institutions, the falling behind of standardtraining, the lost of person with proper ability, and the lack of standard criteria for some highly difficult techniquessuch as culturing amniotic fluid cell,the chorionic villus sampling,clinical diagnosis of chromosomal and geneticdiseases, medical friction appeared in some regions.At the same time, this type of clinical service, with difficulttechnique and high risk, is short of lawprotection, which reduced the enthusiasm of advanced clinical service. Inthe whole country, there is a shortage of persons with ability and clinical mature techniques?The Standardized crite-ria universally used in developed countries were not introduced to our country in time. The above factors leaded tothe lag-off on prenatal and genetic disease diagnosis in clinical service.

Long noncoding RNAs (lncRNAs) are non-protein coding transcript larger than 200 nucleotides,making up a large fraction of cellular transcripts in mammalian.Recent years have seen a surge of studies aimed at functionally characterizing the role of lncRNAs in development and disease.It has been proved that this kind of noncoding RNAs regulate gene expression at epigenetic,transcriptional,and post-transcriptional levels.Retinal development is dependent on an accurately functioning network of transcriptional and translational regulators.Among the diverse classes of molecules involved,lncRNAs play a significant role.LncRNAs are known or suspected to play a functional role in the specification and maturation of retinal cell subtypes and involved in several ocular related diseases.Though the molecular mechanism of most lncRNAs is still largely unclear,it is likely that these molecules represent a major component involved in retinal cell fate determination.In the process of retinal development,lncRNAs could induce cell differentiation,affect cell cycle and regulate X chromosome inactivation.lncRNAs also play an important role in ocular diseases,such as anophthalmia,diabetic retinopathy and spinocerebellar movement disorder type 7.This manuscript reviewed recent advances in the role of lncRNAs in retinal development and ocular diseases,and the existing problems,which is of great significance for basic and clinical research and the development of new therapeutic target.

Objective:To establish a high performance liquid chromatography/tandem mass spectrometry(HPLC-MS) method for determination of cyclosporin A level in the whole blood.Methods: A Hypersil C_(8) column(65 ℃,4.6 mm ?150 mm,5 ?m) was used with a mobile phase of acetonitrile-acetic acid(pH 4.50) 7030 at a flow rate of 1.0 ml?min~(-1).Atomospheric pressure electronic spray ionization was used to quantify cyclosporin A,with the capillary voltage being 4 000 V,the flow of drying gas being 8.0 L?min~(-1),nebulizer pressure being 30 psi,and fragment voltage being 140 V.Results: The calibration curve of cyclosporin A was linear in a range of 26.68-1 067 ?g?L~(-1): y=0.001 1x-0.004 6(r=0.999 3).The lowest limit of detection was 4.35 ?g?L~(-1).The method recoveries of low,medium and high concentrations cyclosporin A were((89.81?4.91)%,)(104.5?3.73)%,and(95.17?2.33)%,respectively;the extraction recoveries of 3 concentrations were(77.64?4.38)%,(78.01?3.79)%,and(83.02?1.59)%,respectively.The intra-day and inter-day RSD was less than 6%,and the RSD was less than 5% in 150 days.Conclusion: The present method is fast,sensitive and selective.It is suitable for clinical monitoring of cycolsporin A.

Used three different methods(ELISA、EFIA、Tr-FIA)to measurate concentration of thyroid stimulating hormone(TSH)in dried blood samples on filterpaper of 32 Uygur neonates again,that were collected two or three year ago.At the same time,collected dried blood samples on filterpaper from the 32 children.Measurated concentration of TSH in the dried blood samples and did clinical examination.The results revealed that there is definite error in different methods.Eliminating measure error,the cut off of mensurating congenital hypothyroidism with dried blood samples on filterpaper are as follows:It is negative,if the concentration of TSH in dried blood samples on filterpaper is≤10?U/ml.It is dubious,if the concentration of TSH in dried blood samples on filterpaper is 10~20?U/ml.These neonates will be counterchecked in definite time to diagnose.It is positive,if the concentration of TSH in dried blood samples on filterpaper is≥20?U/ml.

Objective:To summarize the experiences of the diagnosis and surgical treament for thymoma.Methods:Sixty-five patients with thymoma,surgically treated in our department in the period 1970 to 2000,were retrospectively analysed in respect to the surgical approach,simple thymoma resection and extended thymoma resection.Results:Imaging examination,such as chest X-ray,was the main diagnostic method.Myasthemia gravis was common concomitant disease with an incidence of 43.1%(28/65).Extended thymoma resection was superior to simple resection in therapeutic efficacy.Radiotherapy and chemotherapy could raise therapeutic effects in tumors over stage-Ⅱ.Conclusion:It is inappropriate to adopt simple thymoma resection.No matter which stage the tumor is,extended resection is the effective method to decrease the recurrent rate.

0.05). Conclusions:With a low rate of missed diagnosis which had no relation with the degree of CIN, colposcopic cervical biopsies was a convenient, economical,less wounded and a reliable method in diagnosing cervical intraepithelial neoplasia.

As a kind of inherent membrane surface molecules of our human body,connexins are closely related to the cell growth,proliferation and differentiation,which are highly expressed in kidney.Many kidney diseases have a close relationship with connexins' altered expression and disordered function.This paper is dedicated to review the characteristics of connexins molecules,the expression and corresponding functions in the kidney tissues,as well as the possible regulation mechanisms in the kidney tissues in order to explore their applications and value in medical study.

OBJECTIVE: In China, there are little literatures about nonspecific low back pain(NLBP) and no standardized diagnostic classification of it. This paper reviews the clinical and basic studies on NLBP, and discusses the clinical features and progress in related studies. It is necessary for rehabilitation and intervention of NLBP science norm.DATA SOURCES: Medline, China Wanfang, China Biomedicine (CBM),China Academy Journal(CAJ) and its VIP database.STUDY SELECTION: By searching "nonspecific" and"low back pain" for all data and information about NLBP, we obtained 163 English articles and 22 Chinese ones. These documents were further restricted by "in title" and "2000-2004" to obtain subject documents in the latest 5 years(28 English and 9 Chinese documents) . The main references of important documents were manually searched for full-text articles. Types of these documents were basic study, clinical study.DATA EXTRACTION: All the related information about NLBP in the full-text documents was classified and extracted.DATA SYNTHESIS:Low back pain is generally classified into 3 types according to the present clinical guidelines: NLBP, specific low back pain and sciatica. NLBP constitutes 85% of low back pain and its cause is not clear although it is related to many risk factors. Of the treatment methods for NLBP, all are selective ones.CONCLUSION: Standard classification of diagnosis of low back pain needs to be established to guide clinical practice. Prevention is better than treatment. Tertiary prevention combined with multidisciplines is a promising way to relieve pain and prevent recurrence and disability.

Objective To explore the application values of CT and MRI in the diagnosis of diffuse axonal injury.Methods Totally 52 cases of diffuse axonal injury patients from November 2012 to December 2014 were retrospectively analyzed,who underwent examinations by CT and MRI,then the abilities to find the lesions and the sensitivities of CT and MRI were compared.Results The diagnosis sensitivity of CT (48.08％) was significantly lower than that of MRI (73.08％) (P＜0.05).There were 56 lesions of 25 abnormal cases detected by CT,and there were 99 lesions in the T1WI sequence,137 lesions in T2WI sequence,171 lesions in the FLAIR sequence of 38 abnormal cases detected by MRI.The numbers of lesions found by MRI were significantly higher than those by CT (P＜0.05).The radiographic signs showed as diffuse brain swelling,subarachnoid and ventricular hemorrhage,epidural hematoma and parenchymal hemorrhage or edema.Conclusion CT and MRI contribute to the diagnosis and treatment of diffuse axonal injury.MRI gains advantages over CT in the sensitivity of diagnosing diffuse axonal injury,and thus is worthy promoting clinically.