G,the noval insertion mutation of c.2298_2299insC is identified in Chinese patients.

OBJECTIVETo study the clinical value of screening chromosomal diseases and abnormal pregnancy by maternal serum examination in mid-pregnancy.

METHODSMaternal serum AFP and F-beta hCG were detected in the mid-pregnancy (16-20 weeks) using commercially available detection kits, and the risk of Down syndrome was calculated taking into account of such factors as the maternal age, gestational age, and body weight. Those at high risk underwent amino fluid or cordocentesis for fetal karyotpying. The pregnant women were divided into >or=35 years and <35 years groups, and high and low risk for Down syndrome groups for test results and pregnancy outcome analysis.

RESULTSOf the 6000 pregnant women undergoing antenatal screening, 552 were identified to be at high risk of Down syndrome (9.2%) with one missing case of detection, and 463 of the high-risk cases underwent amino fluid or cordocentesis examination. Twenty-seven cases were found to have abnormal chromosomes, and abortion was suggested in 14 cases but not in the other 13 cases where other chromosomal abnormalities such as polymorphic mutations were found. The screening positive rate in >or=35 years and <35 years group was 95.5% and 8.2% (P<0.0001), with fetal chromosomal abnormality rate of 4.5% and 2.9%, respectively (P>0.5). The rate of abnormal pregnant outcomes for high and low risk groups was 5.6% and 0.05% (P<0.0001), with pregnancy complication rate of 11.8% and 3.7% (P<0.0001) and fetal chromosomal polymorphic mutation rate of 2.8% and 1.1% (P>0.5), respectively.

CONCLUSIONMaternal serum AFP and F-beta hCG levels in second trimester have important values in predicting fetal chromosomal diseases, and their detection may help reduce the birth defect rate and prevent abnormal pregnancy outcomes and complications.

Adult ; Chorionic Gonadotropin, beta Subunit, Human ; blood ; Chromosome Aberrations ; Down Syndrome ; diagnosis ; Female ; Fetal Diseases ; diagnosis ; genetics ; Humans ; Middle Aged ; Pregnancy ; Pregnancy Trimester, Second ; blood ; Prenatal Diagnosis ; methods ; Young Adult ; alpha-Fetoproteins ; analysis

OBJECTIVETo investigate the therapeutic effect of infrared radiation (IR) on the skin scald in rats.

METHODSThirty-nine male Wistar rats were used in the study, and they were randomly divided into normal control (C, n = 13), scald (S, n = 13, no treatment after scalding) and treatment (T, n = 13, with IR radiation treatment for 5 days since 2nd post scalding day (PSD) groups. The rats in S and T groups were subjected to deep partial thickness scalding on the back. The cutaneous tissue samples from rat wound in each group were harvested on the 3rd and 7th PSD for pathomorphological examination. DNA synthesis in wound tissue was analyzed by 3H-TdR incorporation method, and the vascular permeability in cutaneous tissue, degree of tissue edema and MDA content were determined by corresponding methods.

RESULTSEpidermal exfoliation, cutaneous ulcer, follicular atrophy and damage, and massive formation of collagen were identified in the skin wound of rats in S group on the 7th PSD compared with C group. The skin in T group was smooth with slight atrophy and a few collagen fibers in follicles. The 3H-TdR incorporation amount in the rats in T group (1856.33 +/- 343.81 cpm/mg) on the 7th PSD was significantly higher than that in S group (1353.95 +/- 274.48 cpm/mg) (P < 0.01). The tissue permeability, edema degree and MDA content in the cutaneous tissue in S group were obviously higher than those in group C, while these indices were markedly lower in T group when compared with those in S group (P < 0.01-0.001).

CONCLUSIONTreatment with IR seemed to be beneficial to the promotion of skin tissue metabolism and tissue repair.

Animals ; Burns ; metabolism ; pathology ; radiotherapy ; Infrared Rays ; therapeutic use ; Male ; Malondialdehyde ; analysis ; Rats ; Rats, Wistar

OBJECTIVETo analyze the effect of long-term exposure to paint or hair dye on chromosomal aberration of early embryos.

METHODSWe analyzed 2 cases of fetal or infantile chromosome aberration in which the parents experienced long-term exposure to paint and hair dye.

RESULTThe chromosomal mutations were detected in one 3-month-old infant and one 21-week-old fetus, and the karyotypes were 46,XX,del(2)(pter'q31) and 46,XX, t(4;12;15), respectively. Their parents worked with long-term exposure to paint and hair dye and developed such symptoms as dizziness, headache, and insomnia. The chromosomes of the parents remained normal, but the micronuclei of the lymphocytes and plasma lead level were increased with decreased WBC, platelet, and HGB.

CONCLUSIONLong exposure to paint or hair dye can cause poison and affect the normal growth of early embryos, leading eventually to gene and chromosomal mutation of the embryos.

Adult ; Chromosome Aberrations ; drug effects ; Female ; Hair Dyes ; toxicity ; Humans ; Infant ; Karyotyping ; Paint ; toxicity

AIM To study the chemical constituents from Magnolia grandiflora L..METHODS The ethyl acetate fracion of 70％ acetone extract from M.grandiflora leaves was isolated and purified by silica,Sephadex LH-20 and MCI column,then the structures of obtained compounds were identified by spectral data.RESULTS Twelve compounds were isolated and identified as 10α-methoxyalloaromadendra-4β-ol (1),spathulenol (2),aromadendra-4β,10β-diol (3),aromadendra-4β,10α-diol (4),9-oxonerolidol (5),9-hydroxynerolidol (6),3,7-dimethylocta-1,5E-diene-3,7-diol (7),phytol (8),α-tocopherol (9),elemicin (10),syringaresinol (11),yangambin (12).CONCLUSION Compounds 1,3-6,8 are isolated from genus Magnolia for the first time,compounds 7,9,10,12 are first isolated from this plant.

Medium- and long-chain triglyceride (MCT/LCT) propofol is widely used as an intravenous anesthetic, especially in the intensive care unit. The present study aimed to assess whether MCT/LCT propofol is safe in the hyperlipidemic population for long-term use. Free fatty acids (FFAs) were used to establish high-fat stimulation of HepG2 and Huh7 cells. Subsequently, these cells were treated with propofol at the concentration of 0, 4, or 8 µg/ml for 24 and 48 h. The results indicated that the cell viability was notably decreased when the cells were stimulated with 2 mmol/L FFAs and treated with 12 µg/ml MCT/LCT propofol. Accordingly, we chose 2 mmol/L FFAs along with 4 and 8 µg/ml MCT/LCT propofol for the subsequent experiments. Four and 8 µg/ml MCT/LCT propofol inhibited FFA-induced lipid accumulation in the cells and significantly reversed acetyl coenzyme A carboxylase (ACC) activity. In addition, MCT/LCT propofol not only significantly promoted the phosphorylation of AMPK and ACC, but also reversed the FFA-induced decreased phosphorylation of AMPK and ACC. In conclusion, MCT/LCT propofol reverses the negative effects caused by FFAs in HepG2 and Huh7 cells, indicating that MCT/LCT propofol might positively regulate lipid metabolism.
Acetyl-CoA Carboxylase ; AMP-Activated Protein Kinases ; Cell Survival ; Fatty Acids, Nonesterified ; Hepatocytes ; Intensive Care Units ; Lipid Metabolism ; Liver ; Metabolism ; Phosphorylation ; Propofol ; Triglycerides

Objective To summarize the treatment principle of acupuncture-moxibustion in treating Bi-impediment syndrome from the application rules of meridians and acupoints in Ming-Qing Dynasties by sorting out and analyzing the Chinese medicine literatures about acupuncture-moxibustion for Bi-impediment syndrome in Ming-Qing Dynasties, for providing literature evidence for basic and clinical research of Bi-impediment syndrome.Method Via electronic retrieval ofZhong Hua Yi Dian (Zhen Jiu Tui Na Lei) (Chinese Medical Encyclopedia,Chapter of Acupuncture-Moxibustion and Tuina), the data related to Bi-impediment syndrome in Ming-Qing Dynasties were extracted to establish a database categorized by meridians and acupoint features in Excel for analysis.Result There were 267 items of records about acupuncture-moxibustion in treating Bi-impediment syndrome in Ming-Qing Dynasties, involving the fourteen ordinary meridians, and 131 acupoints including 5 extra points; the frequency of using the Gallbladder Meridian ranked the top, followed by the Large Intestine Meridian; points from the Bladder Meridian were predominant, followed by the Gallbladder Meridian; there were 28 commonly-used acupoints (frequency>5), which were Quchi (LI 11, 26 times), Huantiao (GB 30, 23 times), Hegu (LI 4, 22 times), Chize (LU 5, 16 times),Yanglingquan (GB 34, 15 times), and Weizhong (BL 40, 14 times). Of the specific acupoint, the five Shu points were most frequently used, with a frequency of 217.Conclusion In the treatment of Bi-impediment syndrome with acupuncture-moxibustion, doctors in Ming and Qing Dynasties selected yang meridians more often than yin meridians, and Gallbladder, Large Intestine and Bladder Meridians had comparatively higher frequencies; regarding the application of acupoints, the specific acupoints were often used, especially the five Shu acupoints. The study results provide reference for acupoint selection in the treatment of Bi-impediment syndrome with acupuncture-moxibustion.

OBJECTIVETo analyze and summarize the medical treatment experience following separation of thoracopagus conjoined twins.

METHODThe clinical manifestations and the medical therapy of a pair of thoracopagus conjoined twins were analyzed. The conjunction of the female twins was from 5 cm above the nipple to the umbilicus. They also suffered from complex congenital heart diseases. At the 17th day of their lives, they were surgically separated. One girl died after the operation, the other survived but experienced heart failure, sepsis and multiple organ dysfunction (including liver, blood and kidney et al). In order to protect or maintain the main organ function, the vital signs and the objective indexes were monitored continually, such as blood routine test, C reactive protein, hepatorenal function, bacterial culture, and galactomannan test, blood gas analysis and chest radiogram.

CONCLUSIONIt is important to protect the main organ function and prevent or control infection. The early surgical correction of congenital heart disease may contribute to recovery of the children.

Abdomen ; abnormalities ; Abnormalities, Multiple ; surgery ; Female ; Humans ; Infant, Newborn ; Thorax ; abnormalities ; Treatment Outcome ; Twins, Conjoined ; surgery

OBJECTIVETo explore the relationship between polymorphisms of FAS and FASL genes and genetic susceptibility of silicosis.

METHODSA case-control study was conducted. The case group was 183 male patients with silicosis and the control group was 111 male silica-exposed but without silicosis miners. Data on total dust concentrations was collected to estimate cumulative total dust exposure (CTE) of each subject and each person's characteristics and work history were obtained from questionnaire. Polymerase chain reaction re-strained fragment length polymorphism technique (PCR-RFLP) was applied to detect the single nucleotide polymorphisms (SNPs) of FAS-1377, FAS-670 and FASL-844. Associations between polymorphisms and risk of silicosis and stages, interactions between polymorphisms, between polymorphisms and CTE and smoking and haplotypes were analyzed.

RESULTSThere were no differences in the FAS-1377, FAS-670 and FASL-844 genotypes between the case group and the control group (P > 0.05). No association was observed between FAS-1377, FAS-670 and FASL-844 polymorphisms and silicosis and stages (P > 0.05). The frequencies of FAS-1377G/-670G haplotype in the cases (9.6%) were higher than those in the controls (3.6%) (P < 0.05). No interactions between the polymorphisms of different genes, the gene polymorphism and the total accumulative total dust, the gene polymorphism and smoking were observed (P > 0.05).

CONCLUSIONFAS-1377, FAS-670 and FASL-844 polymorphisms are not susceptible factors of silicosis. The FAS-1377G/-670G haplotype might be a susceptibility marker of silicosis.

Aged ; Aged, 80 and over ; Case-Control Studies ; Fas Ligand Protein ; genetics ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Silicosis ; genetics ; fas Receptor ; genetics

OBJECTIVETo investigate the incidence of hyperphenylalaninemia (HPA) caused by different etiologic factors in China and the relationship between the phenylalanine and mental development of patients with HPAs who were diagnosed by neonatal screening and early treated.

METHODSTwo hundred and twenty-three patients with HPA detected by neonatal screening programs were refered to us at the age of (41 +/- 27) days after birth. The differential diagnosis was performed by BH(4) (20 mg/kg) loading test, urinary pterin analysis and dihydropteridine reductase (DHPR) activity determination respectively. The control of phenylalanine (Phe) metabolism, growth and mental development were evaluated in all treated patients. Related gene mutation analysis was performed in some patients

RESULTSOne hundred and twenty-nine of 223 patients (57.8%) were diagnosed as phenylalanine hydroxylase deficiency (PAHD), 64 patients (28.7%) as BH(4) responsive PAHD, 30 patients (13.5%) as 6-pyruvoyl tetrahydropterin synthase deficiency (PTSD). One hundred and forty-nine patients were followed at age of 4 m - 2 y in our clinic. The 136 of 149 patients were treated according to different etiology at the age of 1.6 m (0.5 - 3.5 m) after birth. Thirteen patients were followed up without the need for treatment. All patients had normal growth development. One hundred and eight (79.4%) of 136 treated patients had normal mental development. The negative correlation (r = -0.439, P < 0.01) between IQ and average Phe levels were observed in 58 patients. Twenty-eight patients were able to go to primary school or even university. Nine kinds of PTS gene mutations were found in 9 cases with PTSD, among which 286G-->A and 259C-->T were most commonly seen, accounting for 45%. Seven kinds of PAH gene mutations were found in 13 cases with BH(4) responsive PAHD with the R241C (43.8%) mutation being the most frequent one.

CONCLUSIONThe differential diagnosis should be quickly made in all HPA patients detected by neonatal screening. Near 80% patients early treated had normal mental development. The good control of blood Phe level is a key factor for mental development.

China ; epidemiology ; Female ; Follow-Up Studies ; Humans ; Incidence ; Infant ; Infant, Newborn ; Male ; Neonatal Screening ; methods ; Phenylalanine ; blood ; Phenylketonurias ; diagnosis ; epidemiology ; prevention & control ; Time Factors