Animals ; Brain-Derived Neurotrophic Factor ; genetics ; Cells, Cultured ; Female ; Gene Expression ; drug effects ; Neurons ; drug effects ; Phenylalanine ; toxicity ; Phenylketonurias ; complications ; Rats ; Rats, Sprague-Dawley ; rho GTP-Binding Proteins ; genetics

Adrenal Hyperplasia, Congenital ; complications ; metabolism ; Body Height ; Growth Disorders ; etiology ; Humans ; Risk Factors ; Steroid 21-Hydroxylase ; metabolism

Objective To study positron yield quantitatively in different phantoms by means of PET imaging after high energy photon irradiation,and to investigate the feasibility of bio-dose verification by PET in high energy photon radiotherapy.Methods The phantoms (hydrogel,HDPE,inhomogeneous phantom) were scanned with PET 1 min later after exposure to 2,4,6,8 Gy dose with/using 25 and 50 MV photon irradiation.The positron account rates were recorded every minute in PET scanning process and then fitted to get the half-lives of yielded nuclides.Positron distribution in each phantom was compared with dose distribution to investigate the relationship between positron activity and dose delivered.Results The half-lives of nuclides yielded in hydrogel and HDPE were supposed to be 2.23 and 19.47 min,respectively by fitting results,which had negligible difference with half-lives of 11C (20.2 min) and 15O (2.08 min).The positron amounts induced by 50 MV photon in hydrogel and HDPE were 3.88 and 3.86 times that of 25 MV photon,and increased in proportion to dose delivered.Except for build-up region and cavity,activity distributions in depth and off-axis were similar to dose distribution.Conclusions The amount and distribution of positron induced by high energy photon are related to dose delivered,and it is feasible to do dose verification with PET imaging in high energy photon radiotherapy.

OBJECTIVETo study the chemical constituents of Psammosilene tunicoides.

METHODThe two chemical constituents were separated by various chromatographic methods, and their structures were identified on the basis of spectroscopic analysis.

RESULTTwo beta-carboline alkaloids were separated from normal butanol fraction of P. tunicoides, and identified as 1-acetyl-3-methoxycarbonyl-beta-carboline (1) and 1-acetyl-3-methoxycarbonyl-4-hydroxyl-beta-carboline (2).

CONCLUSIONCompound 1 is separated from this plant as natural products for the first time, and compound 2 was a new compound.

Alkaloids ; analysis ; Carbolines ; analysis ; Caryophyllaceae ; chemistry

Objective To compare the ear baric function between 4000m altitude chamber test with inhaling air and 6900m altitude chamber test with inhaling pure oxygen.Methods Eleven healthy male volunteers attended two tests as two groups by self-comparison. As the air group the volunteers inhaled air at 4000m, while as the pure oxygen group they inhaled pure oxygen at 6900m altitude, and the time interval between the two tests was more than two weeks. During the test, the volunteers breathed air or pure oxygen at random for 1h, and then were exposed at a speed of 20m/s to the target altitude for 5min. Hereafter they were sent back to the ground at the same speed. The changes of subjective symptoms, degree of tympanic congestion, acoustic immitance index and pure-tone auditory threshold were recorded before and after the test. The acoustic impedance index and pure-tone threshold were statistically analyzed.ResultsFour volunteers (4 ears) in air group and 7 volunteers (7 ears) in pure oxygen group reported ear pain in altitude chamber exposures, respectively. The pain-triggering altitude was higher in the pure oxygen group. Immediately after tests, there were 3 (3 ears) and 5 volunteers (5 ears) with Ⅲ degree congestion of the tympanic membrane in the two groups respectively. Four volunteers (6 ears) developed gradually aggravated hemorrhages after altitude exposure. And the tympanic membrane congestion difference between groups was statistically significant at 3 and 24h after tests (P<0.01). The type A tympanogram appeared in 11 (15 ears) and 11 (14 ears) volunteers respectively immediately after tests. The increase of static compliance value was significantly greater in pure oxygen group than in air group immediately after tests (P<0.05), the decrease of middle ear pressure was more significant in pure oxygen group than in air group at 3 and 24h after tests (P<0.05). Both the two altitude exposure tests resulted in eustachian tube dysfunction. At 3 and 24h after the tests, the increase of individual frequency pure-tone threshold was significantly higher in pure oxygen group than in air group (P<0.05).Conclusion Breathing pure oxygen and lifting height could increase the screening degree of ear baric function test in hypobaric chamber, and have greater influence on degree of tympanic congestion, acoustic immittance and pure-tone auditory threshold in 24 hours.

OBJECTIVE: To explore the relationship between the expression of EIIIA+ fibronectin in incised wound of rat's skin and injury time. METHODS: The wounding model was established by cutting the dorsal skin of 48 adult SD rats. The rats were sacrificed at the pre-set injury time as immediately, 0.5 h, 1 h, 2 h, 3 h, 4 h, 6 h, and 8 h. The skin samples were taken at the margin of wound. The expression of the EIIIA? fibronectin was detected by immunohistochemistry and Western blotting and the relationship be- tween its expression and injury time was observed. Results The expression of EIIIA+ fibronectin was not observed immediately. The basal cell of skin began to show positive expression 0.5 h after injury. With the extension of injury time, positive staining became stronger. The value of relative optical density was gradually increased with prolonged injury time by the Western blotting analysis. CONCLUSION The expression of EIIIA+ fibronectin could be used for estimation of injury time in the early stage of skin injury.
Animals ; Fibronectins/metabolism* ; Immunohistochemistry ; Proteins/metabolism* ; Rats ; Rats, Sprague-Dawley ; Skin/metabolism* ; Staining and Labeling ; Time Factors

OBJECTIVE: To explore the feasibility of detecting of Y-STR of fetal DNA in maternal plasma using Ion Torrent PGM™ System. METHODS: A total of 16 fetal DNA samples from maternal plasmas (8 cases from 38 weeks gestational age and 8 ones from 12 weeks) were prepared and a multiplex assay with 7 STR loci (DYS390, DYS391, DYS393, DYS438, DYS437, DYS456, DYS635) was designed for multiplex-PCR amplification. Using Ion Torrent PGM™ System, the results of Y-STR sequences and capillary electrophoresis were obtained and compared. RESULTS: Y-STR specific alleles were detected in the maternal plasma of all the pregnant women having male babies of second and third trimester, which were higher than that detected by capillary electrophoresis. Consistent Y-STR genotypes were observed between fetal DNA from maternal plasma and genomic DNA from the newborn babies. CONCLUSION Based on Ion Torrent PGM™ System, the prenatal Y-STR detection method may provide a high-sensitive and high-throughput choice for prenatal STR detection in forensic testing.
Alleles ; Chromosomes, Human, Y/genetics* ; DNA/blood* ; Family ; Female ; Fetal Blood/chemistry* ; Genotype ; Haplotypes ; Humans ; Male ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Pregnancy ; Sensitivity and Specificity ; Sex Determination Analysis ; Tandem Repeat Sequences/genetics*

OBJECTIVETo report the results of clinical characteristics, enzyme activity determination and mutation analysis of GLB1 gene in a Chinese patient with mucopolysaccharidosis (MPS) type IVB (Morquio B disease).

METHODA 14-year-old Chinese boy with MPS type IVB was firstly diagnosed by blood leucocytes galactosamine-6-sulfate sulfatase (GALNS) and β-galactosidase (GLB1) determination, who was characterized by short stature, multiplex skeletal abnormalities, difficulty in walking. PCR-sequencing analysis was applied to detect the mutations in GLB1 of the patient.

RESULTThe patient was characterized by dwarfism, pectus carinatum, kyphosis, normal intelligence, and no neurologic damage of spasms, linguistic capacity and so on. The patient had normal GALNS enzyme activity and very low GLB1 enzyme activity [5.03 nmol/(h·mg) vs. normal value 118 - 413 nmol/(h·mg) ] in leukocytes. A compound heterozygous missense mutations c.442C > T(p.R148C)/c.1454A > G(p.Y485C) in GLB1 gene were detected in this patient. The mutation p.Y485C is a novel variant. With the method of gene analysis of new variant, the mutation p.Y485C was considered to be a pathogenic mutation.

CONCLUSIONThe MPS IVB patient showed severe multiple skeletal deformities, normal intelligence, no neurologic damage and very low GLB1 enzyme activity, who carries compound heterozygous mutations p.R148C/p.Y485C. The mutation p.Y485C in GLB1 gene may be a novel pathologic mutation of MPS type IVB.

Adolescent ; Amino Acid Sequence ; Asian Continental Ancestry Group ; genetics ; Chondroitinsulfatases ; genetics ; metabolism ; DNA Mutational Analysis ; Humans ; Joints ; pathology ; Male ; Molecular Sequence Data ; Mucopolysaccharidosis IV ; enzymology ; genetics ; pathology ; Mutation, Missense ; Pedigree ; Polymerase Chain Reaction ; Radiography ; Spine ; diagnostic imaging ; pathology ; beta-Galactosidase ; genetics ; metabolism

BACKGROUNDStereotactic surgery has been used to treat heroin abstinence in China since 2000 by ablating the amygdaloid nucleus (AMY) and the nucleus accumbens (NAc), which also provides opportunity to identify the relationship between these nuclei and addiction. Our study aimed to explore the physiological and psychological effects of electrically stimulating the AMY and the NAc in heroin addicts after detoxification by observing changes of heart rate, arterial pressure and occurrence of euphoria similar to heroin induced euphoria.

METHODSA total of 70 heroin addicts after detoxification were recruited, and 61 of them were eligible to be given stereotactic surgery for heroin abstinence. The operation was carried out after determining the coordinates of all target nucleuses, and stimulation was performed at the AMY and the NAc solely or jointly. Heart rate, arterial pressure and occurrence of euphoria similar to heroin induced euphoria were recorded and analyzed.

RESULTSThe average heat rate was (66 ± 10) beats/min before electric stimulation, and significantly increased to (84 ± 14) beats/min during stimulation, and changed to (73 ± 12) beats/min 10 minutes after stimulation. There was a significant elevation of the average arterial pressure from 83 mmHg before stimulation to 98 mmHg during the stimulation, and it then decreased to 90 mmHg after stimulation. Forty-three of the 61 patients showed intense euphoria similar to heroin induced euphoria. The largest number (118/186) of euphoric responses occurred when the AMY and the NAc were stimulated at the same time. Odds ratio was 5.4 (95%CI: 2.4 - 11.9, P < 0.0001) to quantify the association. Results from a Logistic regression model showed a positive correlation between unilateral stimulation of either the AMY or NAC and induction of euphoria (OR > 1), especially when the left AMY or left NAc was stimulated (P < 0.05).

CONCLUSIONSOur data are consistent with existing results that the AMY and the NAc are related to addiction. Different roles in drug dependence would be suggested according to the location of the AMY and NAc.

Adolescent ; Adult ; Amygdala ; surgery ; Blood Pressure ; physiology ; China ; Electric Stimulation ; methods ; Female ; Heart Rate ; physiology ; Heroin Dependence ; physiopathology ; psychology ; surgery ; Humans ; Inactivation, Metabolic ; Male ; Nucleus Accumbens ; surgery ; Radiosurgery ; methods ; Young Adult

OBJECTIVEMany children were found to have low free carnitine level in blood by tandem mass spectrometry technology. In some of the cases the problems occurred secondary to malnutrition, organic acidemia and other fatty acid oxidation metabolic diseases, and some of cases had primary carnitine deficiency (PCD). In the present article, we discuss the diagnosis of PCD and evaluate the efficacy of carnitine in the treatment of PCD.

METHODWe measured the free carnitine (C0) and acylcarnitine levels in the blood of 270 000 neonates from newborns screening program and 12 000 children with suspected clinical inherited metabolic diseases by tandem mass spectrometry. The mutations of carnitine transporter protein were tested to the children with low C0 level and the diagnosis was made. The children with PCD were treated with 100 - 300 mg/kg of carnitine.

RESULTSeventeen children were diagnosed with PCD, 6 from newborn screening program and 11 from clinical patients. Mutations were found in all of them. The average C0 level [(2.9 ± 2.0) µmol/L] in patients was lower than the reference value (10 µmol/L), along with decreased level of different acylcarnitines. The clinical manifestations were diverse. For the 6 patients from newborn screening, 4 were asymptomatic, 1 showed hypoglycaemia and 1 showed movement intolerance from 2 years of age. For the 11 clinical patients, 8 showed hepatomegaly, 7 showed myasthenia, 6 showed cardiomyopathy, 1 showed chronic abdominal pain, and 1 showed restlessness and learning difficulty. Among these patients, 14 cases were treated with carnitine. Their clinical symptoms disappeared 1 to 3 months later. The C0 level in the blood rose to normal, with the average from (4.0 ± 2.7) µmol/L to (20.6 ± 8.3) µmol/L (P < 0.01). However, the level was still lower than the average level of healthy children [(27.1 ± 4.5) µmol/L, P < 0.01].

CONCLUSIONSeventeen patients were diagnosed with PCD by the test levels of free carnitine and acylcarnitines in blood with tandem mass spectrometry, and gene mutation test. Large dose of carnitine had a good effect in treatment of the PCD patients.

Cardiomyopathies ; diagnosis ; drug therapy ; genetics ; Carnitine ; analogs & derivatives ; blood ; deficiency ; genetics ; Child, Preschool ; DNA Mutational Analysis ; Female ; Follow-Up Studies ; Humans ; Hyperammonemia ; diagnosis ; drug therapy ; genetics ; Infant ; Infant, Newborn ; Male ; Muscular Diseases ; diagnosis ; drug therapy ; genetics ; Mutation ; Neonatal Screening ; methods ; Organic Cation Transport Proteins ; deficiency ; genetics ; Reference Values ; Tandem Mass Spectrometry