Objective To determine the clinical characteristics of neonatal asymmetric crying facies and to review the latest progress in clinical research of this condition. Methods Clinical and laboratory data of a case of neonatal asymmetric crying facies syndrome admitted to Peking Union Medical College Hospital in March, 2013 was reported. Clinical charateristics, chromosome abnormalities, treatment and prognosis of neonatal asymmetric crying facies reported in China were analyzed, and pertinent literatures in China Knowledge Resource Integrated Database and CQVIP Database were reviewed. Results Eighteen Chinese reports on this syndrome were retrieved and 48 patients, 31 males and 17 females including our patient, were analyzed. Twelve patients had neonatal asymmetric crying facies and 36 patients had neonatal asymmetric crying facies syndrome. Anomalies in these children included malformations of the heart (26 cases, 72.2%), ear (11 cases, 30.6%), gastrointestinal tract (4 cases, 11.1%), cleft palate (2 cases, 5.6%) and fingers (2 cases, 5.6%). Standard chromosome analysis in three studies was normal. In one case, chromosome 22q11.2 microdeletion was not found using flucrescence in situ hyloridization analysis. There were few studies with long-term follow-up in China. Conclusions Neonatal asymmetric crying facies are complicated with a high rate of other malformations. Identification of associated malformations and close follow-up are required, and intervention should be carried out earlier so as to ensure a good outcome.

Objective To explore the clinical and genetic characteristics of congenital generalized lipodystrophy (CGL). Method The clinical data of one child with CGL caused by BSCL2 gene mutation were analyzed retrospectively and relative literature were reviewed. Results A 2-year-9-month old girl had clinical manifestations of a lack of subcutaneous fat, acanthosis nigricans, hepatolienomegaly and mild hypophrenia. Laboratory examinations showed hypertriglyceridemia, hyperinsulinemia and cardiomyopathy. The peripheral blood from the child and her parents were collected and 4 genes, AGPAT2, BSCL2, CAV1 and PTRF, were sequenced by Sanger. The results showed a heterozygous mutation of BSCL2 gene from maternal frameshift (c.567-568delGA, p.E189EfsX12) and paternal nonsense mutation (c.565G>T,p.E189X) respectively in the child, and both mutations were pathogenic ones. By a literature review, it is known that BSCL2 gene mutation is the most common cause of in Asian. In CGL with BSCL2 gene mutation, the commom clinical manifestations include disappearance of systemic adipose tissue, acathosis nigricans and hepatomegaly, and the incidence of myocardial infarction and mental retardation were 40% and 30% respectively. Conclusion The main clinical manifestations of CGL caused by BSCL2 gene mutation were loss of systemic adipose tissue and metabolic disorder at an early age. It was often accompanied by myocardial lesions and mental retardation. Gene diagnosis analysis should be made as earliest possible time for the children suspected of this disease.

Objective To analyze and summarize the clinical characteristics of patients with spontaneous hemor -rhage of hepatic adenoma in glycogen storage disease type Ⅰa.Methods Reporting 1 case in our hospital and making a summary about general situation , category, etiology, diagnosis and treatment of the hemorrhage of hepatic adenoma with glycogen storage disease type Ⅰa through checking literatures .Results The patient was a 27 year old male who had been diagnosed as glycogen storage disease for 14 years, as well as was first found hepatic adeno-ma at the age of 17 .He once was diagnosed as intra-adenoma bleeding with persistent abdominal pain and dizziness and was underwent selective hepatic artery embolization at the age of 22.Hepatic adenoma in glycogen storage dis-ease typeⅠa generally appeared at the age of puberty .One common complication of this disease was hemorrhage of hepatic adenoma , which can be found by ultrasonography and CT .Clinical management includs observation , selec-tive hepatic artery embolization , radiofrequency ablation , surgical resection and liver transplantation .Conclusions Glycogen storage disease type Ⅰa is an autosomal recessive genetic disease with hepatic adenoma as a common complication of GSD Ⅰa, serious liver adenoma's hemorrhage can be life threatening , the radiological examination can be helpful to detect hepatic adenoma .Then appropriate intervention can improve the life quality and prognosis .

ObjectiveTo compare the real-time analgesic effects between two different groups of acupoints in treating primary dysmenorrhea, for providing objective evidences for optimizing the treatment protocol for primary dysmenorrhea.MethodSixty eligible patients with primary dysmenorrhea were randomized into 3 groups: group A received acupuncture at Sanyinjiao (SP6), group B received acupuncture at Sanyinjiao and Guanyuan (CV4), and group C as a blank control group, 20 cases in each group. Visual Analogue Scale (VAS) was observed prior to the acupuncture treatment, after the insertion of the needles, and after removal of the needles in the three groups.ResultThe VAS scores changed significantly in group A and B after intervention (P<0.05); there was no significant difference in comparing the VAS score between group A and B after intervention (P>0.05).Conclusion Acupuncture at Sanyinjiao alone and acupuncture at Sanyinjiao and Guanyuan both can produce analgesic effect at the attackof primary dysmenorrhea. However, for optimizing the treatment protocol, selecting Sanyinjiao alone will be enough.

Aim To study the content and clinical significance of serum endothelin-1(ET-1)in patient with malignant tumors. Methods The contents of serum ET-1 in 85 patients with malignant tumors,30 patients with benign diseases and 30 normal indivaduals were detected by radioimmunoassay. Results (1)The mean concentrations of serum ET-1 in normal individuals and in non-tumor patients were (46.9± 23.1)μ g/L and (51.1± 30.9)μ g/L,respectively, while in patients with malignant tumors it was (190.1± 135.2～ 382.4± 190.1)μ g/L. (2)There was no significant difference between the mean serum contents of ET-1 in normal individuals and non-tumors pstients(P∧ 0.05),but the level of serum ET-1 in patients with malignant tumors were significantly higher than that in above two groups(P∨ 0.001). (3)When the mean content plus twice standard deviation of serum ET-1 in normal individuals was as a threshold value,that is ,the value was defined as the positive clinical value to diagnose cancer, the positive rates of patients with different malignant tumours were 72％ ～ 100％ . Conclusion Serum ET-1 contents could be used as a better tumor index for maligant tumor screening and accessory diagnosis.

BACKGROUND: Infection following kidney transplantation has become one of the main reasons for graft failure and death of allograft recipients. However, there is not a standard therapeutic scheme for infection following kidney transplantation. OBJECTIVE: To investigate the clinical features and treatment measures of infection, additionally, to increase the cure rate of infection following kidney transplantation.DESIGN, TIME AND SETTING: A retrospectively analysis was performed at the Organ Transplantation Center, the First Affiliated Hospital of Kunming Medical College from February 2006 to February 2008.PARTClPANTS: Eighteen cases of infections in 84 kidney allograft recipients.METHODS: All cases were checked by chest X-ray. Patients who had no significant lung infection symptoms or obvious signs received lung CT scan. Pathogen detection was performed, including hemoculture, urine culture, sputum culture, nose swabs culture, throat swab culture, checking clinically important cytomegalovirus (CMV), EB-DNA and mycoplasma in blood, acid-fast bacilli and eumycete culture in sputum. All cases of pulmonary infection underwent a comprehensive treatment-antiviral drugs, antibiotics and antifungal. Depending on the individual condition and absolute values of lymphocytes and CD4+T cells, the immunosuppressant was adjusted individually. The occurrence time, clinical symptom, auxiliary examination and treatment strategies were analyzed.MAIN OUTCOME MEASURES: The occurrence time of infection and clinical symptoms; imaging manifestation and results of pathogenic detection; selection of antibiotics and immunosuppressant adjustment.RESULTS: Among 18 cases, 11 cases (61.2%) were deceased-donor kidney transplant recipients. Inflection following kidney transplantation occurred in 12 cases (66.7%) within 3 months, and increased to 15 cases (83.3%) within 3-6 months. Of the 18 infection cases, 14 cases (77.8%) had a main symptom of fever. There were 15 cases (83.3%) of respiratory tract infection, including 13 cases (72.2%) of pulmonary infection. Fungal cultivation, especially Monilia, was positive in 6 cases. Three out of the 18 cases (16.7%) died, two of whom had CMV infection. Mixed infection occurred in all cases.CONCLUSION: Infected patients following kidney transplantation present with diversity pathogens, which are dominated by bacteria, fungus and virus. Severe pneumonia combined with CMV infection demonstrates that poor prognosis, fungal and virus infection following kidney transplantation should be given more attention. Combined de-escalation therapy is the main method, and timely adjustment and even discontinuance of immunosupprassive agents is one of the key points in the treatment of infection following kidney transplantation

BACKGROUND:Industrialization of new-born bovine serum and abundant resource of bovine lendon enable industrialization of medical collagen sponge.OBJECTIVE:To prepare collagen sponge with new-born bovine tendons by inoculating Veto cells,primary embryo skin cell of Tianzhu White Yak and lamb testicle cell of Minxian black fur sheep of the tissue scaffold of collagen sponge.and observe the biocompatibility of collagen sponge with three different cells.DESIGN,TIME AND SETTING:Repetitive measurement was performed at the Key Laboratory of State Nationalities Afrairs Committee,College of Life Sciences and Engineering,Northwest University for Nationalities from February to May 2006.MATERIALS:Tendons of new-born bovine within 24 hours were digested by glacial acetic acid and pepsinum firstly and then salting-out,dialysis and vacum freeze drying were performed to prepare collagen sponge.f2 passage of embryo skin cells of Tianzhu Whit Yak and f2 passage of lamb testicle cells of Minxian black fur sheep were prepared by out laboratory;Vero cells were provided by Union Medical University.METHODS:In a 6-hole plate,the Vero cell,embryo skin cells of Tianzhu White Yak and lamb testicle cells of Minxian Black Fur Sheep were inoculated into the collagen sponge pretreated by ultraviolet and sterilized by ozone.and incubated in 5%CO2 at 37℃.In addition,cells only inoculated ia a culture plate served as control. MAIN OUTCOME MEASURES:Inverted phase contrast microscope was used to observe cell growth condition in the collagen sponge and 6-hole plate at 5,12,24 and 72 hours.In addition,Coomassie brilliant blue as well as HE staining were conducted at 11 days after culture to identify the culture.RESULTS:Five hours after inoculation,cell adherence and expansion was observed at the bottom of culture plate.and some of the cells showed division.On the surface of collagen sponge.a round cell arrangement was observed.After inoculation of 48-72 hours,monolayer was found at the bottom of the plate.On the 11th day of culture.Coomassie brilliant blue and HE staining of three kinds of cells showed there were lager amount of cells well grew in the holes of collagen sponge,and the collagen sponge turned to be eminent,transparent and tenacious.CONCLUSION:The collagen sponge made from new-born bovine tendons exhibit good biocompatibility with three kinds of cells from different animals and tissues,and can be served as culture seaffoId of skin cells,tenal ceils.and testicle cells.

BACKGROUND:It is confirmed that collagen sponge prepared from human tendon,bovine tendon,rat tail,pig skin and newborn bovine tendon have good cytocompatibility.OBJECTIVE:To extract collagen from newborn bovine skin,prepare the collagen sponge for biomedical application,and observe the biocompatibility and cytocompatibility of collagen sponge with lamb fibroblasts.DESIGN,TIME AND SETTING:Controlled study was performed in the Key Laboratory of Bioengineering of State Ethical Committee,Life Science and Engineering College,Northwest University for Nationalities from May 2006 to February 2007.MATERIALS:Newborn Galiba bovine within 24 hours and black fur lamb kidney fibroblasts were used.METHODS:Newborn bovine skin was harvested to prepare the collagen sponge with a series of procedures,including depilation,pepsin+glacial acetic acid,salting-out,dialysis and freeze drying.The obtained collagen sponge was inoculated with fibroblast suspension,which were divided into collagen sponge group,negative control group (saline) and positive control group (rubber bung leaching liquor).MAIN OUTCOME MEASURES:Inverted phase contrast microscope and JVC digital camera system were used to observe the cell morphology and growth.Acridine orange dyeing was used to observe the proliferation of cell in collagen sponge at 20 and 35 days of culture.Hematoxylin-eosin staining was used to observe the growth of cells in collagen sponge at 65 days of culture.RESULTS:The cells of positive control group were not adhesive and all died three days later.Those of collagen sponge group and negative control group were normal and adhesive.With the prolong of culture time,the sponge pore decreased gradually,sponge appearance became eminent and transparent,the cell increased in number but decreased in morphology.Acridine orange dyeing at 20 and 35 days of culture showed that a large amount of cells appeared in the co-culture of collagen sponge with lamb kidney fibroblast,and pack of cell clumps grew.Abundant blue nuclei and newborn red collagen fiber were found by hematoxylin-eosin staining.CONCLUSION:The collagen sponge from newborn bovine skin has a good biocompatibility with lamb kidney fibroblast cell of black fur,and no cytotoxicity appears.

Objective To explore the relationship between cervical spondylotic radiculopathy (CSR) and carpal tunnel syndrome (CTS) by investigating their electrophysiological characteristics and the incidence of CSR root injury and root injury complicating with CTS.Methods One hundred and twenty-four cases of CSR diagnosed in Peking Union Medical College Hospital from September 2013 to February 2014 by electromyography (EMG) were recruited.According to the results of EMG,patients were divided into root injury and root injury complicating with CTS groups.The distal motor latency (DML),motor nerve conduction velocity (MCV),sensory nerve conduction velocity (SCV),sensory nerve action potential (SNAP),compound muscle action potential (CMAP) and spontaneous potential (SP) were compared between the two groups.Results There were 81 (65.3％) cases with root injury,11 cases with double sides injury and 29 cases with normal EMG among these 124 patients.The CMAP,DML,MCV,SCV and SNAP were normal in 76 cases,CMAP lowered 5％-12％ in 3 cases,DML extended 3％ and 9％ in 2 cases.There were 14 cases (11.3％) with concomitant CTS (female 10 cases and male 4 cases,double sides CTS 10 cases).Among the 14 cases with concomitant CTS,there were 9 cases with simply sensory nerve conduction abnormality,SCV slowing down 26％-47％,SNAP reducing 58％-86％ or normal,while other 5 cases with motor conduction abnormality as well as sensory nerve conduction abnormality,CMAP reducing 21％-78％,DML extending 27％-39％ in 3 cases,MCV slowing down 32％ and 40％ in 2 cases.Five cases had spontaneous electricity position movement in the abductor pollicis brevis.The incidence of root injury complicating with CTS in C6 (27.4％,9/33),C7 (26.9％,7/26) and C8 (5/7) showed statistically significant difference (x2 =5.96,P ＜ 0.01).Conclusions There is a high incidence of root injury and CTS in CSR patients,indicating a possible double crush between CSR and CTS.

Objective　: To verify the feasibility of using a homemade lung phantom for quality control of Cyberknife by comparing the measurement results of the homemade lung phantom and CIRS dynamic phantom in E2E testing of Cyberknife lung tracking.  Methods　 : The patient treatment process was simulated, including CT positioning, plan design, irra- diation implementation, film scanning, and analysis using the homemade phantom and CIRS phantom. The two phantoms were measured five times using MLC under the S7 generation Cyberknife and five times using Iris under the M6 generation Cyberknife. The differences in measurement results between the two phantoms were analyzed using independent sample t-test. Results　: For the S7 generation Cyberknife, the statistical analysis of differences between the two phantoms in the detection values on the X-axis, Y-axis, Z-axis, and total deviation showed P values of 0.236, 0.175, 0.289, and 0.668, respect- ively. For the M6 generation Cyberknife, the statistical analysis showed P values of 0.880, 0.891, 0.573, and 0.433, respect- ively. The P values were all > 0.05. Therefore, there were no statistically significant differences in the detection results between the homemade lung phantom and the CIRS phantom under the S7 and M6 generation Cyberknife. The total deviation values were <1.5 mm. Conclusion　 The homemade lung phantom and CIRS phantom have consistent measurement results in the E2E testing of Cyberknife lung tracking and meet the requirements of Report of AAPM TG-135 and WS 667- 2019 standard. Therefore, the homemade lung phantom is feasible for clinical quality control of Cyberknife.