ObjectiveTo investigate key techniques and intervention in reducing birth defects. Method Down's syndrome (DS), trisomy-18 (Edwards syndrome, ES), neural tube defects (NTD), Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), thalassemia, and glucose-6-phosphate dehydrogenase deficiency (G6PD) were chosen as target disease. From Jan. 2007 to Dec. 2009, the condition of intake folie acid were investigated in 5004 pregnant women in Panlong District and Wuhua District of Kunming City. All of the 27 660 pregnant women undergoing prenatal examination were enrolled into the study from the First People's Hospital of Yunnan Province, the Second People's Hospital of Yunnan Province, the First People's Hospital of Qujing City, the Second People's of Qujing City, Qujing Women and Children's Hospital, People's Hospital of Lincang City, Kunming Maria Women's Hospital, Maternal and Infant's Care Unit of Panlong District of Kunming City, Maternal and Infant's Hospital of Dali City. The screening was performed on serum of those pregnant women at 8 -20 +6 gestational weeks. Prenatal cytogenetic analysis and fetal ultrasonogrspy were performed on the high risk or indicated women after genetic counseling. DNA analysis was administered on those women with family or childbearing history of DMD,SMA,thalassemia,orG6PD. Outcomeof pregnancywasfolloweduptoevaluatetheeffectof intervention. ResultsApproximately 30. 10％ (1506/5004) of pregnant women were administered by oral folic acid during perinatal period. Two thousand three hundred and thirteen women with high risks of DS,ES, or NTD fetuses were observed among 27 660 undergoing maternal serum screening. Two thousand and ninety-six pregnant women including two twins pregnant women were performed cytogenetic analysis. Other 67 pregnant women at high risk of DMD, SMA, thalassemia, and G6PD accepted genetic counseling and prenatal gene analysis. Two thousand one hundred and sixty-three pregnant women (2165 fetuses) underwent prenatal examination. One hundred and two cases chromosome abnormalities, 17 cases NTD, 4 cases DMD, 1 cases α-thalassemia major were found. All of the 91 fetuses with major birth defects were terminated after genetic counseling. Another affected DS fetus in a twin pregnancy dead intrauterine at 24 gestational weeks. Thirty-two women bearing fetuseswithbalancedtranslocations orinversionscontinuedtheir pregnancies. Totally 2071 normal term fetuses were born in the prenatal diagnosis group. Two fetuses with normal chromosome were lost within 1 week after amniocentesis. Four affected DS fetuses were born from their high risk mothers who refused further prenatal diagnosis service. In a random sampling follow-up cohort of 5000 mothers at low risk, none of affected child suffering target diseases was found. The DS detection rate of maternal serum screening was 84％ (27/32), with the false positive rate was 6. 153％ (1702/27 660).ConclusionsFolic acid intake before conception and in the first trimester would reduce the risk of birth defects, only 1/3 reproductive women took folie acid actively. Maternal serum screening could effectively detect high risk of DS, ES and NTD. The genetic counseling is critical in women at high risk or who had family history of inherited disorders. The prenatal screening and diagnosis combined with routine obstetric care could reduce the incidence of major birth defects, which should become prenatal care strategy in our country.

Objective:To investigate the current situation with regard to a sense of coherence in major caregivers of enterostomy patients and analyze its relationship with self-efficacy and perceived social support.Methods:From July to December 2019, a total of 118 major caregivers of enterostomy patients were investigated using a general information questionnaire, a self-efficacy scale, and a perceived social support scale.Results:The score of sense of coherence in major caregivers of enterostomy patients was 58.40±9.17, and the average scores of all dimensions, from high to low, were “controllable sense，” “understandable sense，”and “meaningful sense.” Sense of coherence was positively correlated with self-efficacy and perceived social support ( r=0.457, P<0.01; r=0.369, P<0.01). Hierarchical multiple regression analysis showed that self-efficacy and perceived social support had a positive predictive effect on sense of coherence and explained 35.2% of the variance ( R′ 2=0.352, F=25.639, P<0.001). Conclusions:The main caregivers of enterostomy patients had a low level of sense of coherence. Self-efficacy and perceived social support have a positive effect on sense of coherence. Medical staff should take targeted measures to help caregivers improve their self-efficacy and social support system in order to improve their sense of coherence.

OBJECTIVETo study chemical constituents of contained in roots of Pterospermum heterophyllum.

METHODThe chemical constituents of P. heterophyllum were separated and purified by silica gel, sephadex LH-20, ODS column chromatography and preparative HPLC. Their structures were identified by spectroscopic techniques.

RESULTTen compounds were separated and identified as asperglaucide (1), 2-methoxy4-hydroxyphenol-1-O-beta-D-apiofuranosyl (1-->6)-O-beta-D-glucopyranoside (2), 5, 5'-dimethoxy-9-beta-D-xylopyranosyl-(-) -isolariciresinol(3), (-)-epicatechin (4), eriodictyol (5), taxifolin (6), 3beta-hydroxy-12-en-28-ursolic acid (7), 2beta, 3beta-dihydroxy-12-en-28-oleanolic acid (8), quercetin (9), cholest-4-en-3-one (10).

CONCLUSIONCompounds 1-10 were separated from this plant for the first time.

Chromatography ; methods ; Drugs, Chinese Herbal ; chemistry ; Medicine, Chinese Traditional ; Plant Roots ; chemistry ; Sterculiaceae ; chemistry

Objective:To explore benefit finding and its influencing factors among enterostomy patients.Methods:A total of 120 enterostomy patients were investigated with general information questionnaire, Benefit Finding Scale, Simplified Scale of Resilience and Perceived Social Support Scale.Results:The score of benefit finding among enterostomy patients was 49.44±5.86. Multiple regression analysis showed that education level, self-care, complications, resilience, perceived social support were influencing factors of benefit finding, and explained 51.1% of the variance.Conclusions:The benefit finding among enterostomy patients was grim. It is suggested that clinical staff pay more attention to the patients with low education, poor self-care and complications of stoma, and also pay more attention to the positive psychology and the social support system of patients, guide patients to pay attention to the positive significance of the disease, so as to improve the level of benefit finding.

Objective To explore the computed tomography angiography(CTA)and clinical features of Takayasu's arteritis(TA)with peripheral artery involvement.Methods In this retrospective study,CTA scan was performed in a total of 184 TA patients.TA patients were divided into two groups:60 patients within peripheral artery involvement(peripheral artery involvement group)and 124 patients without peripheral artery involvement(peripheral artery non-involvement group).The difference in comparison of clini-cal data and CTA findings were analyzed.Results A total of 194 peripheral arteries were involved in 60 patients.The most suscep-tible peripheral artery were axillary artery(52,26.8％),middle cerebral artery(26,13.4％)and femoral artery(22,11.3％).In the peripheral artery involvement group,the most common CTA manifestation was luminal stenosis(141,72.7％).The lumen dilata-tion,lumen stenosis with dilatation and wall calcification were not easy to be observed.The age and duration of disease in peripheral artery involvement group were significantly greater than those in peripheral artery non-involvement group(P＜0.05).The proportion of the peripheral artery involvement group in the active phase was significantly lower than that of the peripheral artery non-involvement group(P＜0.05).The incidence of pain in the limbs in peripheral artery involvement group was significantly higher than that in peripheral artery non-involvement group(P＜0.05).The utilization rate of tocilizumab in the peripheral artery involvement group was significantly higher than that in the peripheral artery non-involvement group(P＜0.05).Conclusion TA involving peripheral arteries is more common in patients with a long course of disease and in the inactive phase.Patients are prone to pain in their limbs.The CT A manifestations of these patients are also special,that is,the involved peripheral arteries are not prone to lumen dilatation and wall calcification.

Objective:To explore rumination status and its influencing factors among enterostomy patients, so as to provide references for the formulation of interventions.Methods:Using convenience sampling method, 120 patients with enterostomy who were treated and followed up in the Fifth Affiliated Hospital of Sun Yat-Sen University from July to December 2019 were selected as the research subjects. General information questionnaire, Event Related Rumination Inventory Scale, Simplified Scale of Resilience and Perceived Social Support Scale were applied in the investigation.Results:The invasive rumination score of enterostomy patients was (13.64±4.88) and the purposive rumination score was (14.90±3.72) . Multiple linear regression analysis showed that age, self-care degree of stoma, resilience and perceived social support explained 38.1% of the variance of invasive rumination ( P<0.01) . Education, occupation, resilience and perceived social support explained 41.9% of the variation of invasive rumination ( P<0.01) . Conclusions:The rumination of enterostomy patients was in the lower middle level. It is suggested that clinical staff pay more attention to the patients with low age, poor self-care ability of colostomy, low education level and unemployed state. At the same time, measures should be taken to improve the level of patients' resilience and improve their social support system, so as to promote the patients' positive psychological adjustment.

OBJECTIVETo establish a strategy for screening and diagnosing common microdeletion and microduplication syndromes among children with idiopathic mental retardation and development abnormalities.

METHODSPotential chromosomal variations among patients with unexplained mental retardation, cardiac anomalies, particular facial features, learning disabilities and other clinical characteristics were detected with bacterial artificial chromosome BACs-on-Beads (BoBs) technique and karyotyping. Positive results were verified with array-based comparative genomic hybridization (Array-CGH).

RESULTSFifty eight of the 60 patients had a normal chromosome karyotype. Ten patients with microdeletion and microduplication syndromes were detected by BoBs, which included two positive cases identified through chromosome karyotyping. Two patients were respectively diagnosed as Smith-Magenis syndrome and Prader-Willi/Angelman syndrome by BoBs and the results were confirmed by Array-CGH.

CONCLUSIONBoBs is capable of detecting chromosome microdeletion and microduplication with high specificity and throughput, which can compensate the shortcomings of conventional cytogenetic technology and will be widely applied for clinical diagnosis.

Adolescent ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosome Duplication ; Chromosomes, Artificial, Bacterial ; genetics ; Comparative Genomic Hybridization ; Cytogenetic Analysis ; methods ; Female ; Humans ; Infant ; Infant, Newborn ; Karyotyping ; Male ; Oligonucleotide Array Sequence Analysis

OBJECTIVE: To perform carrier screening for spinal muscular atrophy (SMA) among 3049 reproductive-age individuals from Yunnan region and determine the copy number of survival motor neuron (SMN) gene and carrier frequencies. METHODS: Multiplex ligation-dependent probe amplification (MLPA) was used to determine the copy number of exon 7 of SMN1 and SMN2 genes and identify those with a single copy of SMN1 gene. Prenatal diagnosis was performed for couples whom were both found to be SMA carriers. RESULTS: In total 62 SMA carriers were identified among the 3049 subjects, which yielded a carrier frequency of 1 in 49 (2.03%). No statistical difference was found in the carrier frequency between males and females (1.91% vs. 2.30%, P>0.05). Respectively, 1.3% (41/3049) and 0.69% (21/3049) of the carriers were caused by heterozygous deletion and conversion of the SMN1 gene. The average copy number for SMN1 alleles was 1.99. Two couples were found to be both as SMA carriers, for whom the birth of an affected fetus was avoided by prenatal diagnosis. CONCLUSION No difference was found in the carrier frequency of SMA-related mutations between the two genders in Yunnan region, which was in keeping to an autosomal recessive inheritance pattern. Determination of the carrier frequency for SMA and SMN gene variants may provide a basis for genetic counseling and prenatal diagnosis for the disease.
China ; Female ; Genetic Carrier Screening ; Genetic Counseling ; Genetic Variation ; Heterozygote ; Humans ; Male ; Muscular Atrophy, Spinal ; genetics ; Pregnancy ; Prenatal Diagnosis ; Survival of Motor Neuron 1 Protein ; genetics ; Survival of Motor Neuron 2 Protein ; genetics

Tetanus consists of neonatal tetanus and non-neonatal tetanus.Non-neonatal tetanus remains a serious public health problem,although neonatal tetanus has been eliminated in China since 2012.Non-neonatal tetanus is a potential fatal disease.In the absence of medical intervention,the mortality rate of severe cases is almost 100％.Even with vigorous treatment,the mortality rate is still 30％-50％ globally.These specifications aim to regulate non-neonatal tetanus diagnosis and treatment in China,in order to improve medical quality and safety.These specifications introduce the etiology,epidemiology,pathogenesis,clinical manifestations and laboratory tests,diagnosis,differential diagnosis,grading and treatment of non-neonatal tetanus.

OBJECTIVE To analyze the chemical components that were the absorbed in blood and liver tissue of rats after intragastric administration of aqueous extract from Abrus cantoniensis， and to speculate its possible metabolic pathways， providing reference for basic analysis of pharmacological substance in A. cantoniensis. METHODS Male SD rats were randomly divided into A. cantoniensis group （0.63 g/kg， calculated by crude drug） and blank group； they were given relevant drug solution/ultrapure water intragastrically. After a single dose， plasma and liver samples of rats in each group were collected. UPLC-Q-TOF/MS technology was used to identify chemical components that were absorbed in the blood and liver tissue of rats. RESULTS Totally， 30 chemical constituents were identified from the water extracts of A. cantoniensis， including alkaloids， flavonoids， organic acids， iridoids （such as L-abrine， schaftoside， isoshaftoside）. Ten prototype components and nine metabolites （such as decarboxylation and sulfation metabolites of protocatechuic acid， reduced sulfated metabolites of p-hydroxybenzoic acid） were identified from plasma samples； six prototype components and five metabolites （such as sulfated metabolites of p-hydroxybenzoic acid， decarboxylation and sulfation metabolites of p-hydroxybenzoic acid） were identified from liver samples. The main metabolic pathways included hydroxylation， demethylation， methylation， sulfation， glucuronidation， etc. CONCLUSIONS Alkaloids， flavonoids and organic acids are the main components of the aqueous extract from A. cantoniensis that are absorbed into the blood and liver， their metabolism mainly involves hydroxylation，demethylation， and sulfation.