Objective To analyze the HbA1c results of double heterozygotes of hemoglobin(Hb) NewYork and β-thalassemia detected by five different HbA1c detection systems,and compare the early-warning abilities of erroneous glycosylated hemoglobin results for Hb NewYork and β-thalassemia heterozygotes.Methods Peripheral blood samples from 40 patients without hemoglobinopathies with different range of HbA1c levels were collected to evaluate the consistency of the detected results.Variant Ⅱ system was used as the reference system which successfully completed NGSP Level Ⅰ laboratory certification.Variant Ⅱ Turbo 2.0 (V Ⅱ-T),Capillary 2 Flex Piercing(2FP),Primus Ultra2 (Ultra2)and Roche Modular PPI(PPI) 800 were used as the comparative systems.The HbA1 c in 2 sera from the patients with compand heterozygotes of Hb NewYork was detected by the above systems.Hemoglobin electrophoresis was performed.Gentypes of á-and β-globin genes were analyzed by GAP-PCR,hybridization and dideoxy chain termination method.Results The HbA1c values in non-hemoglobinophthy samples obtained using V Ⅱ-T 2.0,Ultra2,C2FP and PPI systems were well correlated with that of VⅡ system.The hemoglobin genotypes of the two cases of compand heterozygotes were aa/aa,βIVS-2-654/βNewYork and aa/aa,β41-42/βNewYork,respectively.The proportions of HbA were all 0 while the proportions of Hb NewYork were 93.5％ and 94.0％ respectively.The HbA1c results of the two cases detected were 4.3％ (23 mmol/mol)and 4.5％ (26 mmol/mol)by V Ⅱ,4.5 ％ (26 mmol/mol) and 4.6％ (27 mmol/mol) by VⅡ-T 2.0,no values and no values by C2FP,4.1％ (21 mmol/mol) and 4.3 ％ (23 mmol/mol) by Ultra2 and 4.2％ (22 mmol/mol) and 4.8 ％ (29 mmol/mol) by PPI systems,respectively.All the systems did not send warning for abnormal signs in profiles and results.Conclusion The five systems presented different early-warning ability for the double heterozygotes of Hb NewYork and β-thalassemia.The compand heterozygotes should theoretically not contain HbA1 c,but the systems V Ⅱ,V Ⅱ-T,Ultra2 and PPI showed detectable results of HbA1 c indicating all the four systems were not able to provide with early-warning.C2FP system did not report HbA1c result so it exhibited early-warning ability for the double heterozygote.

OBJECTIVETo compare the difference of vasomotor functions in aortas segments from Wistar rats between 1-hour and 6-hours after exposure of water-soluble components of fine particulate matter (PM2.5).

METHODSAll 30 Wistar rats were assigned to five groups (n=6 for each group) at random: the blank control group, control group for 1-hour and 6-hours, exposure group for 1-hour and 6-hours. The rats were sacrificed 1-hour or 6-hours later and aorta ring segments were mounted on wire myographs.

RESULTS(1) There was no significant difference in vasomotor functions among three control groups (P>0.05). (2) 1-hour or 6-hours after exposure there was a decrease of contraction elicited by 60 mmol/L KCl in contrast to the control group (P<0.05), whereas no significant change between the exposure group for 1-hour and 6-hours (P>0.05). (3) On the level of 10(-5) or 10(-7) mol/L, 1-hour after exposure there was a decrease in endothelium-dependent acetylcholine (ACh) elicited relaxation precontracted by 10(-6) mol/L NE compared with the control group (P<0.01 or P<0.05), on the level from 10(-5) to 10(-7) mol/L there was a decrease compared with the exposure group for 6-hours (P<0.05), whereas no difference between the exposure group for 6-hours and the control group (P>0.05). On the level from 10(-5) to 10(-9) mol/L, 1-hour after exposure there was a decrease in endothelium-independent sodium nitroprusside (SNP) elicited relaxation precontracted by 10(-6) mol/L NE as compared with the control group (P<0.01 or P<0.05) and a decrease on the level of 10(-6) or 10(-9) mol/L compared with the exposure group for 6-hours (P<0.05), 6-hours after exposure a decrease was caused as compared with the control group on the level from 10(-5) to 10(-7) mol/L (P<0.01 or P<0.05).

CONCLUSIONSInhibition of contraction and impairment of relaxation in aortas should be caused 1-hour after exposure to water-soluble components of PM2.5 in the air, which is weaken 6-hours after exposure.

Acetylcholine ; blood ; Air Pollutants ; toxicity ; Animals ; Aorta, Thoracic ; Male ; Particulate Matter ; toxicity ; Rats ; Rats, Wistar ; Vasoconstriction ; drug effects ; Vasodilation ; drug effects

OBJECTIVETo investigate the incidence of hot spot mutation of PDS gene by genetic screening testing method in Chifeng City, Inner Mongolia. The feasibility and effectiveness of genetic screening method in finding enlarged vestibular aqueduct syndrome were confirmed by temporal bone CT scan.

METHODSDNA were extracted from peripheral blood of 141 students of Chifeng Deaf and Dumb school. PDS IVS7-2 A-G mutation, the most common PDS mutation in Chinese population, was analyzed by direct sequencing for PDS exon 7, exon 8 with intron 7. The individuals found with homozygous or heterozygous PDS IVS7-2 A-G mutation were given further temporal CT scan, ultrasound scan of thyroid and thyroid hormone assays. The results of PDS genetic screening and temporal bone CT scan were compared with each other.

RESULTSThe sequencing results revealed twenty cases carrying PDS IVS7-2 A-G mutation, of whom nine cases were homozygous mutation and eleven cases were heterozygous mutation. Eighteen cases underwent temporal bone CT scan except two cases that left the school due to other health problem. Sixteen cases were confirmed to be enlarged vestibular aqueduct syndrome (EVAS) by CT scan and the shape and function of thyroid were clinically normal by ultrasound scan of thyroid and thyroid hormone assays, respectively.

CONCLUSIONSThe patients suffered from EVAS can be diagnosed by the screening for the PDS hot spot mutation which has unique advantage in epidemiologic study in large scale deaf population. The preliminary data of this study suggested relatively high incidence of EVAS in Chifeng area.

Adolescent ; Child ; Child, Preschool ; China ; Female ; Genetic Testing ; Hearing Loss ; genetics ; Humans ; Membrane Transport Proteins ; genetics ; Point Mutation ; Syndrome ; Vestibular Aqueduct ; pathology ; Vestibular Diseases ; genetics ; Young Adult

OBJECTIVETo analyze the molecular pathogenesis of deaf couples by means of genetic testing. To provide accurate genetic counseling and instruction for deaf couples with different etiology based upon results of genetic testing.

METHODSFour deaf families from July 2005 to May 2006. Each subject was with moderate to profound hearing loss. Genomic and mitochondrial DNA (mtDNA) of each subject were extracted from whole blood. Genetic testing of GJB2, SLC26A4 (PDS) and mtDNA A1555G mutation were offered to each individuals.

RESULTSThe husband from family 1 didn't carry GJB2, SLC26A4 and mtDNA A1555G mutation while his wife was confirmed to carry compound SLC26A4 mutations. The possibility of their offspring's to be SLC26A4 single mutation carrier was 100%. The couple from family 2 both didn't carry GJB2, SLC26A4 and mtDNA A1555G mutation. The possibility of their offspring's having hereditary deafness caused by GJB2, SLC26A4 and mtDNA A1555G mutation was excluded. The husband from family 3 was confirmed to carry homozygous GJB2 mutations and a single SLC26A4 mutation while his wife who was diagnosed with enlarged vestibular aqueduct syndrome (EVAS) by CT scan was proven to carry a single SLC26A4 mutation. The risk of their offspring's suffering EVAS was 50%. The husband from family 4 was mtDNA A1555G positive while his wife who was diagnosed with cochlear malformation by CT scan didn't carry GJB2, SLC26A4 and mtDNA A1555G mutation. The risk of their offspring's having hereditary deafness caused by GJB2, SLC26A4 and mtDNA A1555G mutation was excluded.

CONCLUSIONSGenetic testing could be applied to offer the more accurate genetic counseling and instruction to deaf couples.

Connexin 26 ; Connexins ; genetics ; DNA, Mitochondrial ; analysis ; Deafness ; diagnosis ; genetics ; prevention & control ; Female ; Genetic Counseling ; Genetic Diseases, Inborn ; diagnosis ; genetics ; Genotype ; Humans ; Male ; Membrane Transport Proteins ; genetics ; Mutation

OBJECTIVE: To analyze the sociodemographic and clinical factors related to anxiety in patients with major depressive disorder (MDD). METHODS: This study involved a secondary analysis of data obtained from the Diagnostic Assessment Service for People with Bipolar Disorders in China (DASP), which was initiated by the Chinese Society of Psychiatry (CSP) and conducted from September 1, 2010 to February 28, 2011. Based on the presence or absence of anxiety-related characteristics, 1,178 MDD patients were classified as suffering from anxious depression (n=915) or non-anxious depression (n=263), respectively. RESULTS: Compared with the non-anxious group, the anxious-depression group had an older age at onset (t=-4.39, p<0.001), were older (t=-4.69, p<0.001), reported more lifetime depressive episodes (z=-3.24, p=0.001), were more likely to experience seasonal depressive episodes (chi2=6.896, p=0.009) and depressive episodes following stressful life events (chi2=59.350, p<0.001), and were more likely to have a family history of psychiatric disorders (chi2=6.091, p=0.014). Their positive and total scores on the Mood Disorder Questionnaire (MDQ) and the 32-item Hypomania Checklist (HCL-32) (p<0.05) were also lower. The logistic regression analysis indicated that age (odds ratio [OR]=1.03, p<0.001), a lower total MDQ score (OR=0.94, p=0.011), depressive episodes following stressful life events (OR=3.04, p<0.001), and seasonal depressive episodes (OR=1.75, p=0.039) were significantly associated with anxious depression. CONCLUSION: These findings indicate that older age, fewer subclinical bipolar features, an increased number of depressive episodes following stressful life events, and seasonal depressive episodes may be risk factors for anxiety-related characteristics in patients with MDD.
Anxiety* ; Asian Continental Ancestry Group ; Bipolar Disorder ; Checklist ; China ; Depression ; Depressive Disorder ; Depressive Disorder, Major* ; Humans ; Logistic Models ; Mood Disorders ; Risk Factors* ; Seasons

Inductively coupled plasma mass spectrometry (ICP-MS) was applied to determine the concentrations of lead (Pb), cadmium (Cd) and arsenic (As) in Lindera aggregata (Sims) Kosterm. The physiologically based extraction test (PBET) digestion in vitro/Caco-2 cell model was established to investigate the bioaccessible contents of Pb, Cd and As in decoction of Lindera aggregata (Sims) Kosterm. The target-organ toxicity dose modification of HI method (TTD) was used to evaluate the cumulative risk caused by the combined exposure of the total levels of Pb, Cd and As in Lindera aggregata (Sims) Kosterm. and the bioaccessible contents in the decoction. The results showed that the total contents of Pb, Cd and As in 4 batches of samples were in the range of 2.901-3.872, 1.299-1.800 and 0.062-0.216 mg·kg^-1, respectively. After transportation by Cacco-2 cells, the bioaccessible contents of Pb, Cd, and As in the decoction were in the range of 0.045-0.080, 0.070-0.112 and 0.004-0.018 mg·kg^-1. The results of risk assessment showed that calculated by the total amounts of heavy metals in the Lindera aggregata (Sims) Kosterm., for the end points of nervous system, the cumulative risks of co-exposure of heavy metals in 3 batches of samples were of concern. After decoction and transportation by Caco-2 cells, for the end points of cardiovascular system, blood, nervous system, kidney and testis, the TTD modification of HI values of all batches of samples were less than 1, and the health risks were acceptable. The study provided methodology basis for a more objective assessment of the health risks of heavy metals and harmful elements in traditional Chinese medicine and for a more scientific limit standard of heavy metals and harmful elements.