1.Economy Type Medicine-Idea Needs Reinforcement in Medical Ethics Education
Chinese Medical Ethics 1994;0(05):-
Economy type medicine is the requirement of economy type society,the demand of the development of the hygiene sector,the necessary part of medical ethics education.The economy type medicine has concrete content.In the process of building harmonious and economy type society,we need to enhance the economy type ethics education,strengthen the economy type consciousness of medical personnel and medical student.
2.Exploration and Research on Practical Teaching of Medical Ethics
Yumei XU ; Lesen CHENG ; Xiumin SHEN
Chinese Medical Ethics 1994;0(06):-
Practical teaching of medical ethics is the key point in judging the effectiveness of the course.After 27 years of teaching efforts and exploration,the teaching of medical ethics in our college has gradually formed the basic form of practical teaching,such as case teaching,group discussion,scientific research activities,case assessment,the combination of medical ethics teachers and clinical teachers in the teaching process.But more attention and efforts are still needed in the following issues,including building a scientific evaluation system for the course of medical ethics,focusing on the continuity of practical and systematic teaching,dedicated practice of medical ethics course,and handling new arising problems in modern medical and healthcare practice.
3.Chemical constituents from resin of Dracaena cochinchinensis
Xiumin SHEN ; Zhuhong WANG ; Cheng CHEN ; Lan HE ; Pengfe TU
Chinese Traditional and Herbal Drugs 1994;0(07):-
Object To study the chemical constituents of Dracaena cochinchinensis (Lour.) S. C. Chen. Methods The constituents were isolated on silica gel chromatography, preparative TLC, and spectral data. Results Six compounds were isolated and identified from the resin of D. cochinchinensis as: 1, 2, 4, 5-tetrachloro-3, 6-dimethoxybenzene (Ⅰ), cholest-4?-methyl-7-en-3?-ol (Ⅱ), cholest-4?-methyl-7-en-3-one (Ⅲ), hexacosane (Ⅳ), cholest-7-en-3?-ol (Ⅴ), cholest-7-en-3-one (Ⅵ). Conclusion Compounds Ⅳ-Ⅵ were isolated from D. cochinchinensis for the first time.
4.Effects of short-term intensive lifestyle intervention on community patients with impaired glucose regulation
Yuping TANG ; Maolian LI ; Junhua HE ; Yunfei BIAN ; Junnan LI ; Xiumin SHEN ; Aiqing LI ; Xianqing ZHU
Chinese Journal of Health Management 2009;3(4):206-209
Objective To evaluate the effects of the short-term intervention lifestyle intervention on metabolic measurements of community patients with impaired glucose regulation (IGR). Methods A total of 90 IGR participants were randomly assigned to the control group (n=45) or the intervention group (n= 45). The subjects in the control group received routine diet and physical exercise advice once a month. The subjects in the intervention group received additional individualized diet counseling and circuit-type resistance training. Metabolic parameters were compared before or after the intervention between the two groups. Results In oral glucose tolerance test (OGTT),2-h plasma glucose (PG) and homeostasis model of insulin resistance index (HOMA-IR) were significantly decreased in the intervention group at 3 months(F= 13.47 or 82.25 ,both P < 0.05). Body mass index (t=-2.44, P<0.05), systolic blood pressure (t= -3.39, P<0.05), diastolic blood pressure (t=-3.97, P<0.05), fasting plasma glucose (t=-3.89, P<0.05),2-h PG (t=-7.22,P <0.05) ,total cholesterol (t=-2.72,P<0.05),low-density lipoprotein cholesterol (t=-2.74, P<0.05), and glycosylated hemoglobin A1 C (t=-3.73, P<0.05) were significantly declined in the intervention group compared to the control group (all P<0.05). Conclusions Intensive lifestyle intervention can significantly improve the metabolic markers of IGR subjects and should be used to prevent type 2 diabetes.
5.NR5A1 gene mutation in child with 46, XY disorders of sex development:a case report and literature review
Juan LI ; Jian WANG ; Yongnian SHEN ; Xiumin WANG ; Xiaodong HUANG ; Yu DING ; Yao CHEN
Journal of Clinical Pediatrics 2016;34(10):771-774
Objective To explore the clinical features and molecular diagnosis of 46, XY disorder of sex development (46, XY DSD).Methods The clinic data of one child with 46, XY DSD raised as female were retrospectively analyzed, and related literatures were reviewed.Results The 11.5-year-old child raised as female visited clinic due to, “accidently found clitoral hypertrophy for half month”. Preliminary series of laboratory examinations supported the diagnosis of 46, XY DSD, high gonadal hormone dysplasia. DNA sequencing of the whole genome exon group showed a heterozygous mutation of c.937C>T, p.Arg313Cys inNR5A1 gene. No abnormality was detected in her father, while her mother was a heterozygous mutation carrier. Conclusions 46, XY DSD can be diagnosed by the whole genome exon gene sequencing.
6.Novel compound heterozygous mutations of the PCNT gene in one Chinese boy with microcephalic osteodysplastic primordial dwarfism typeⅡ:case report and literature review
Guoying CHANG ; Juan LI ; Jian WANG ; Xiumin WANG ; Yu DING ; Qing CHENG ; Xin LI ; Yiping SHEN
Chinese Journal of Endocrinology and Metabolism 2017;33(1):47-51
[Summary] Microcephalic or Majewski's osteodysplastic primordial dwarfism type Ⅱ ( MOPD Ⅱ) is an extremely rare genetic disease mainly caused by pericentrin ( PCNT) gene mutations. This paper reported one 13-year-old boy, who was admitted because of the slow growth for more than 13 years and deepened skin color over six months. He was diagnosed as MOPD Ⅱ associated with a combination of growth hormone deficiency, type 2 diabetes, hypertension, acanthosis nigricans, multiple café-au-lait spots. On magnetic resonance imaging of brain, no vascular malformations such as aneurysms were shown. There were novel compound heterozygous mutations of PCNT gene in the patient, with the nonsense mutations of c. 502C > T ( p. Gln168 * heterozygous variation) and c. 3103C > T (p. Arg1035* heterozygous variation). His father carried a nonsense mutation c. 3103C > T ( p. Arg1035 *heterozygous variation ) and his mother had a nonsense mutation c. 502C > T ( p. Gln168 * heterozygous variation). After treatment with metformin for three months, his blood glucose returned to normal, and acanthosis nigricans was improved. It seems critical to evaluate the abnormal condition of blood vessels regularly for MOPD Ⅱpatients with PCNT gene mutations.
7.The correlation between phenotype and genotype of 5α-reductase 2 deficiency in 5 children
Yu DING ; Jian WANG ; Juan LI ; Qing CHENG ; Xin LI ; Xiumin WANG ; Xiaodong HUANG ; Yiping SHEN ; Yongnian SHEN
Journal of Clinical Pediatrics 2016;34(12):886-890
Objective To explore the correlation between phenotype and genotype of 5α-reductase 2 deficiency. Methods The clinical data of five children with 5α-reductase 2 deficiency were retrospectively analyzed and the relation between their clinical phenotype and genotype were analyzed. Results All of these five children presented small penis and testicular hypoplasia, three of whom had ones similar to the clitoris appearance. The testosterone/dihydrotestosterone (T/DHT) ratio was 10.26-64.99 after human chorionic gonadotropin (hCG) stimulation. Gene detection showed one case had c.680G>A homozygous mutation and the others were compound heterozygous mutations. The mutations were mainly missense mutations, followed by deletion, duplication and nonsense mutations. Conclusion The 5α-reductase 2 deficiency has different degrees of abnormal genital development. Genetic testing contributed to the diagnosis of this disease.
8.B7-H1 and PD-1 expressions on peripheral leukocytes from patients with Henoch-Sch(o)nlein purpura
Yihua WEI ; Haiying LI ; Yujie ZHANG ; Lei YANG ; Xiumin WANG ; Mingfen QU ; Aiping FENG ; Guanxin SHEN ; Shuhua ZHOU
Chinese Journal of Dermatology 2009;42(11):742-744
Objective To investigate the expressions of B7-H1 and PD-1 on peripheral leukocytes from patients with Henoch-Schtmlein purpura(HSP)and their significance.Methods Peripheral leukocytes were obtained from 36 patients with HSP(HSP group)and 24 healthy human controls(control group).Immunofluorescent staining and flow cytometry were used to measure the expressions of B7-H1 and PD-1 on peripheral leukocytes.The expression of both two molecules was compared between the HSP group and control group as well as between patients with Henoch-Sch(o)nlein purpura nephritis(HSPN)(n=9)and those without(n=27).SPSS 12.0 for Windows was used for data analysis.Results The expression rate of B7-H1 on monocytes significantly increased(24.43%±25.79%vs 7.69%±8.31%,t=3.62,P<0.011),while that of PD-1 decreased(0.84%±1.96%vs 2.28%±1.95%,t=2.78,P<0.01)in HSP group compared with those in the control group.No significant difference was revealed in the expression of B7-H1 or PD-1 on lymphocytes between HSP group and control group(both P>0.05).There was a significant increase in the expression of B7-H1 on monocytes(44.81%±12.36%vs 17.63%±25.63%,t=3.05,P<0.01)and lymphocytes(8.78%±2.10%vs 5.65%±3.96%,t=2.25,P<0.05)in patients with HSPN compared with those without.Conclusion There is a high expression of B7-H1.but low expression of PD-1 on peripheral blood monocytes from patients with HSP.suggesting that B7-H1 and PD-1 may play a certain role in the Dathogenesis of HSP.
9.Alstrom syndrome in children:a case report and literature review
Qingxia CAI ; Guoying CHANG ; Yu DING ; Juan LI ; Qing CHENG ; Xin LI ; Jian WANG ; Xiumin WANG ; Yiping SHEN
Journal of Clinical Pediatrics 2017;35(4):278-281
Objective To analyze the clinical feature, diagnosis and treatment of Alstrom syndrome. Method The clinical data of a case of Alstrom syndrome and the result of her ALMS1 sequencing by the two generation sequencing were retrospectively reviewed. Results The 12 year and 10 month old female suffered from dilated cardiomyopathy, obesity, optic nerve diseases, sensorineural hearing loss, high blood glucose and irregular menstruation since one month of birth. Laboratory examination showed she had high testosterone level, hyperglycemia, hyperlipidemia and fatty liver. High-throughput sequencing confirmed there was ALMS1 gene mutation which includes hybrid frameshift mutations of c.5418delC and p.Y1807Tfs*23, and heterozygous nonsense mutation of c.10549C>T and p.Q3517*, and c.5418delC was a new variation reported for the first time. Conclusion Alstrom syndrome is an autosomal recessive genetic disease, which is characterized by multiple organ dysfunction and metabolic syndrome, and can be diagnosed by gene detection.
10.The clinical manifestation and gene mutation of primary renal glucosuria in a child
Qun LI ; Guoying CHANG ; Yu DING ; Juan LI ; Qing CHENG ; Xin LI ; Jian WANG ; Xiumin WANG ; Yiping SHEN
Journal of Clinical Pediatrics 2017;35(6):418-420
Objective To explore the clinical manifestation and gene mutation of primary renal glucosuria (PRG). Methods The clinical data and gene detection results of a child with PRG were analyzed. Results A girl aged 2 years and 10 mouths had glucose ++++ by urine dipstick analysis and 22.4 g of the 24 h urine glucose. Her father was urine glucose positive. Genome DNA was extracted from peripheral blood of the girl and her parents, SLC5A2 gene were amplified by PCR for sequencing, including exons and splicing areas. The results showed a homozygous point mutation (c.127-16C>A) in girl, and both of her patents had the same heterozygous mutation. This mutation had been classified to pathogenic mutations by ClinVar data base. Conclusions The diagnosis of PRG is confirmed in this child and SLC5A2 gene mutation is the cause.