Effect of fluoride on the expression of 5-methylcytosine in blood, liver, kidney and brain of rats / 中华地方病学杂志

Objective To investigate the effects of fluoride exposure dose and exposure time on the expression of 5-methylcytosine (5-mC) in blood,liver,kidney and brain of rats;and to understand whether there is a difference in the effects of fluoride on DNA methylation levels in different tissues.Methods Eighty three-week old SPF male Wistar rats were randomly divided into four groups according to body weight [(82.34 ± 10.60) g],with 20 rats in each group.The rats of control group drank distilled water and the fluoride group's drank distilled water containing 25,50 and 100 mg/L of F ion,respectively.Rats were sacrificed after fed for 1 month and 3 months (n =10),and peripheral blood and tissue samples were collected.The incidence of dental fluorosis was observed in rats.Bone and urine fluoride content was detected by ion selective electrode method.The content of 5-mC in blood,liver,kidney and brain was detected by enzyme-linked immunosorbent assay (ELISA).The independent and interactive effects of fluoride exposure dose and exposure time on 5-mC in rat peripheral blood and different tissues were analyzed by factorial design anova.Results After feeding for 1 month and 3 months,all rats in the fluoride group had dental fluorosis with different severities,while none dental fluorosis was found in the control groups.Fluoride exposure dose and exposure time had a main effect on bone fluoride contents [1 month:(324.985 + 127.094),(846.148 ± 331.861),(1 886.601 + 250.140),(2 420.971 + 135.883) mg/kg;3 months:(417.591 ± 88.324),(1 582.243 ± 347.975),(2 163.519 ± 614.932),(2 755.434 ± 265.370)mg/kg;F =96.692,13.077,P ＜ 0.01],respectively,but there was no interaction effect (F =2.013,P ＞ 0.05);fluoride exposure dose had a main effect on urinary fluoride contents (F =62.358,P ＜ 0.01),the exposure time had no effect on it (F =0.862,P ＞ 0.05),and there was no interaction effect (F =0.081,P ＞ 0.05).Fluoride exposure dose had a main effect on the 5-mC content in the blood (F =8.446,P ＜ 0.01),the exposure time had no effect on it (F =0.095,P ＞0.05),and there had an interaction effect (F =4.676,P ＜ 0.01).Fluoride exposure dose and exposure time had a main effect on the 5-mC content in the liver,respectively (F =4.737,7.064,P ＜ 0.01 or ＜ 0.05),and an interaction effect was exist (F =8.302,P ＜ 0.01).Fluoride exposure time had a main effect on the 5-mC content in the kidney (F =6.340,P ＜ 0.05),the exposure dose had no effect on it (F =0.140,P ＞ 0.05),and there was no interaction effect (F =1.269,P ＞ 0.05).Fluoride exposure dose and exposure time had no effect on 5-mC content in the brain (F =0.633,2.065,P ＞ 0.05).Conclusion Fluoride exposure dose and exposure time have the different effect on the levels of 5-mC in blood,liver,kidney and brain,suggesting that there may be differences in the effects of fluoride on DNA methylation levels in different tissues.

Effects of fluoride on oxidative damage of protein in rat plasma / 中华地方病学杂志

Objective To investigate the effects of fluoride on protein oxidative damage in rat plasma by measuring oxidative stress levels,advanced glycation end products (AGEs) and advanced oxidation protein products (AOPP).Methods Eighty SPF male 3-week-old Wistar rats weighing (82.34 ± 10.60) g were randomly divided into 4 groups,20 rats in each group.The control group drank distilled water,and the fluoride groups drank distilled water with fluoride concentrations of 25,50 and 100 mg/L,respectively.Rats were allowed to eat and drink freely,and they were sacrificed at 1 month and 3 month,respectively,and samples such as urine,femur and peripheral blood were collected for experiments.Fluoride contents in urine and bone were detected by ion selective electrode method,the superoxide dismutase (SOD) activity was detected by hydroxylamine method,malondialdehyde (MDA) content was detected by thiobarbituric acid (TBA) method,and AGEs and AOPP contents were detected by enzyme linked immunosorbent assay (ELISA).Results For 1 month and 3 months,compared urinary fluoride contents (mg/L:2.088 + 0.638,9.170 ± 2.865,20.094 ± 8.186,54.866 ± 2.866;2.202 ± 1.282,9.112 ± 2.364,21.854 ±8.325,52.513 ± 16.211),and bone fluoride contents (mg/kg:324.985 ± 127.094,846.148 ± 331.861,1 886.601 ±250.140,2 420.971 ± 135.883;417.591 ± 88.324,1 582.243 ± 347.975,2 163.519 ± 614.932,2 755.434 ±265.370) in control group and fluoride concentrations of 25,50 and 100 mg/L groups,the differences were statistically significant (F =88.379,29.225;87.440,33.998,P ＜ 0.05).For 1 month and 3 months,compared SOD activity (U/ml:32.469 ± 5.674,35.931 ± 2.262,36.746 ± 3.994,38.042 ± 4.632;31.027 ± 4.147,30.777 ±4.791,34.148 ± 1.755,36.585 ± 2.860) and AGEs contents (μg/L:26.977 ± 5.285,33.303 ± 6.226,28.021 ±5.946,34.117 ± 6.706;35.681 ± 3.802,33.651 ± 7.214,28.114 ± 4.660,24.330 ± 3.581) in control group and fluoride concentrations of 25,50 and 100 mg/L groups,the differences were statistically significant (F =2.896,5.780;3.565,10.195,P ＜ 0.05).By factorial design anova,there was an interaction between the exposure concentration and exposure time of fluorine and the content of AGEs (F =8.957,P ＜ 0.01).Conclusion Excessive fluoride can affect urinary,bone fluoride contents,SOD activity,AGEs content,suggesting that excessive fluoride may regulate protein expression through direct and indirect oxidative damage pathways,which leading to fluorosis.

A Single-center Retrospective Analysis of Clinical Epidemiology of Multiple Sclerosis / 中山大学学报(医学科学版)

@# 【Objective】To summarize current situation of multiple sclerosis in South China and provide reference for MS diagnosis and treatment.【Methods】We selected patients of whom the first diagnosis was MS from 2011 to March 2019，and divided them into Adults group and Pediatrics group according to onset age above or below 14. We analyzed them from epidemiology，symptomatology，accessory examinations and treatment situation.【Results】296 patients were admitted into this research. The ratio of male to female was 1∶1.67. Median onset age was 26. Relapsing-remitting MS accounted for 63.2% of all patients. For initial episode，130 patients had motor symptoms（43.9%），118 patients showed sensory symptoms（39.9%），and 55 patients were accompanied with visual symptoms（18.6%）. Statistical difference exists in sensory symptoms（114 vs. 4，Z = -2.155，P = 0.031）and paroxysmal symptoms（4 vs. 3，Z = -3.610，P = 0.000） of Adults group and Pediatrics group. For following episodes，the total relapsing time was 712，with motor symptoms relapsing 380 times（53.4%），sensory symptoms 265 times（37.2%）and visual symptoms 134 times（18.8%）. Statistical difference existed in motor，sensory，visual，other ocular symptoms and paroxysmal symptoms. Positive rate of Oligoclonal bond was 45.5%. Positive rate of MOG-Ab was 16.7%. For brain MRI，periventricular lesions ≥ 9 accounted for 57.4% of all patients，with cortical & juxtacortical lesions 28.1% and infratentorial lesions 0.3%. Patients who had optic nerve lesions accounted for 63.2%. No statistical difference existed in them. For treatment，drugs they had used previously were glucocorticoid（79.7%），beta Interferon（15.9%）and azathioprine（13.9%）.During the study，drugs they were using were glucocorticoid（15.5%），rituximab（9.1%），azathioprine（8.1%）and teriflunomide（8.1%）.【Conclusions】For gender， age，symptomatology and accessory examinations，results of this research are similar to previous papers about multiple sclerosis in Asian. For treatment，the trend indicates that usage of new disease-modifying drugs goes up.

An analysis on the present situation of post setting in CDCs of Zhejiang Province / 预防医学

Objective To analyze the present post setting situation of CDCs in Zhejiang Province, and to provide evidence for further improvement and standardization of post setting. Methods The data of post setting were collected by questionnaires from all levels of CDCs in Zhejiang Province. The compliance and rationality of post setting structure were evaluated by national and provincial normative policy documents. Results Ninety seven CDCs had implemented the post setting. Professional technical posts had the highest proportion (above 80%) among three kinds of posts. As the approved proportions of posts classification and professional titles were approved by the local government, there were differences between different levels of CDCs. The approved proportion of ground skilled posts and management posts between municipal and county CDCs had a relatively higher degree of dispersion, and the CVs of ground skilled posts and management posts of municipal CDCs were 72.3% and 65.6%, and the CVs of county CDCs were 101.6% and 82.1%. In terms of the approved professional titles structural proportion, the degree of dispersion appeared to be higher in senior titles and primary titles approved proportion of municipal CDCs (CV=29.1%, 28.5%), while the degree of dispersion was higher in senior titles and vice-senior titles of county CDCs (CV=58.9%, 21.8%) . Meanwhile, the approved proportions of senior titles in municipal and county CDCs were lower with the averages of 32.2% and 17.0%. The posts of infectious disease prevention and control and laboratory detection were accounting for the majority posts in municipal and county CDCs with average percentages of 47.8% and 45.1% . Conclusion The present situation of post structural proportion meets the relevant requirements generally. However, there are some phenomena of non-standard approved proportion of ground skilled posts and management posts and low senior titles approved proportion. Meanwhile, the percentage of infectious disease prevention and control and laboratory detection posts appears to be lower in county CDCs.

Neutralization of Interleukin-9 Decreasing Mast Cells Infiltration in Experimental Autoimmune Encephalomyelitis / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Th9 cells are a newly discovered CD4+ T helper cell subtype, characterized by high interleukin (IL)-9 secretion. Growing evidences suggest that Th9 cells are involved in the pathogenic mechanism of multiple sclerosis (MS). Mast cells are multifunctional innate immune cells, which are perhaps best known for their role as dominant effector cells in allergies and asthma. Several lines of evidence point to an important role for mast cells in MS and its animal models. Simultaneously, there is dynamic "cross-talk" between Th9 and mast cells. The aim of the present study was to examine the IL-9-mast cell axis in experimental autoimmune encephalomyelitis (EAE) and determine its interaction after neutralizing anti-IL-9 antibody treatment.</p><p><b>METHODS</b>Female C57BL/6 mice were randomly divided into three groups (n = 5 in each group): mice with myelin oligodendrocyte glycoprotein (MOG)-induced EAE (EAE group), EAE mice treated with anti-IL-9 antibody (anti-IL-9 Abs group), and EAE mice treated with IgG isotype control (IgG group). EAE clinical score was evaluated. Mast cells from central nervous system (CNS) were detected by flow cytometry. The production of chemokine recruiting mast cells in the CNS was explored by reverse transcription-polymerase chain reaction (RT-PCR). In mice with MOG-induced EAE, the expression of IL-9 receptor (IL-9R) complexes in CNS and spleen mast cells was also explored by RT-PCR, and then was repeating validated by immunocytochemistry. In vitro, spleen cells from EAE mice were cultured with anti-IL-9 antibody, and quantity of mast cells was counted by flow cytometry after co-culture.</p><p><b>RESULTS</b>Compared with IgG group, IL-9 blockade delayed clinical disease onset and ameliorated EAE severity (t = -2.217, P = 0.031), accompany with mast cells infiltration decreases (day 5: t = -8.005, P < 0.001; day 15: t = -11.857, P < 0.001; day 20: t = -5.243, P = 0.001) in anti-IL-9 Abs group. The messenger RNA expressions of C-C motif chemokine ligand 5 (t = -5.932, P = 0.003) and vascular cell adhesion molecule-1 (t = -4.029, P = 0.004) were significantly decreased after IL-9 neutralization in anti-IL-9 Abs group, compared with IgG group. In MOG-induced EAE, the IL-9R complexes were expressed in CNS and spleen mast cells. In vitro, splenocytes cultured with anti-IL-9 antibody showed significantly lower levels of mast cells in a dose-dependent manner, compared with splenocytes cultured with anti-mouse IgG (5 μg/ml: t = -0.894, P = 0.397; 10 μg/ml: t = -3.348, P = 0.019; 20 μg/ml: t = -7.639, P < 0.001).</p><p><b>CONCLUSIONS</b>This study revealed that IL-9 neutralization reduced mast cell infiltration in CNS and ameliorated EAE, which might be relate to the interaction between IL-9 and mast cells.</p>

An analysis on the personnel allocation and basic quality structure of middle-level cadres in CDCs of Zhejiang Province / 预防医学

Objective Toanalyzethepersonnelallocationandbasicqualitystructureofmiddle-levelcadresinCDCsof ZhejiangProvince.Methods DatawerecollectedfromthenationalbasicinformationsystemofCDCs.Anddescriptive statistics,chi-square test and Kruskal -Wallis H test were used to analyze the differences of middle -level cadres'personnelallocationandbasicqualityamongthreelevelsofCDCs.Results Theallocationratioofmiddle-levelcadresin management departments was 25.58%,27.32% and 23.58% for provincial level,city level and county level of CDCs respectively,which was 74.42%,72.68% and 76.42% in management departments respectively.There were significant differences in ages,working years,education levels,majors and titles across different levels of CDCs (P<0.05 ).And there were significant differences in education levels across counties with different economic levels (P<0.05 ). Conclusion Thepersonnelallocationofmiddle-levelcadreswithexcellentbasicqualityindifferentlevelsofCDCsin Zhejiang Province was reasonable.

Follow-up study on neuropsychological behavior development of preterm and low birth weight infants / 中华行为医学与脑科学杂志

Objective To study the neuropsychological behavior development of preterm infants and low birth weight infants,and to provide a reference to the early prevention and intervention on developmental retardations.Methods A total of 101 preterm infants and/or low birth weight infants received the infant development test of 0 ～ 6 year-old children intelligence developmental scale for neurological development and autism behavior checklist(ABC).Results 25 boys and 5 girls suffered from different psychological mental disorders.The occurrences were as follows:10 cases with mental retardation,9 cases with the language development delay,9 cases with motor retardation,1 case with cerebral palsy and 1 case with autism spectrum disorder.The incidence of intelligence problems were that language retardation (18.9％),the fine motor (16.8％),the adapative ability (12.6％),social action (9.5 ％) and the motor delay (3.2％).There were significant differences in the scores of social communication(x2=8.88,P=0.003),adaptive ability(x2=7.41,P=0.007),the fine motor(x2 =6.22,P=0.01) and total developmental quotient(x2 =5.58,P=0.02) between city children'and rural area.The behavioral problems more consisted in self-care ability and language retardation.Conclusion Preterm infants and low birth weight infants are exposed to language,fine motor,adaptive and communication ability problems,especially the children living in country.It is necessary to improve the early education and intervention for the rural preterm infants and low birth weight infants.

Bioinformatic analysis of regulation of microRNA on target genes in pediatric asthma / 临床儿科杂志

Objective To understand the underlying mechanism of mites-induced pediatric asthma by bioinformatic analysis on speciifc microRNA (miRNA) array and target gene screening. Methods This is a case control study of 62 pairs of dust mites-induced asthma children with age and gender matched healthy controls. Twelve pairs were randomly selected for miRNA array. The abnormal expression of miRNAs was compared between asthma and control children. The results were validated by RT-qPCR and bioinformatic analysis in remaining pairs of children. Results Six miRNAs (miRNA-151a-5p, 625-5p, 126-3p, 513a-5p, 27b-3p, 22-3p) were signiifcantly down-regulated more than two folds in dust mites-induced asthma children than those in controls. The enriched bioinformatics analysis showed that these miRNAs and their target genes CBL, PPARGC1B, ESR1, ONECUT2, EGFR, SYK, and STAT1 were related to inlfammatory cytokine signaling pathway. Conclusion It is suggested that miR-22-3p, 513a-5p, 625-5p, 27b-3p, and miRNA-target genes form a network through co-regulation to target genes to participate dust mites-induced asthma in children.

The expression of hsa-miR-28-3p and ADAM12 in cord blood mononuclear cells of preterm birth in-fants / 中国小儿急救医学

Objective Preterm birth is a live birth delivered before 37 weeks of gestation.Preterm birth rates have risen in recent years,and preterm birth is the leading cause of perinatal morbidity and mortali-ty worldwide.Both environmental and genetic factors likely play important roles in the development of pre-term birth.MicroRNAs(miRNAs)are 18 to 25 nucleotides,single stranded non-coding RNAs that regulate a wide range of biological processes in development and human disease.In this study,we have investigated the differential expression of hsa-miR-28-3p and ADAM12 in cord blood mononuclear cells of preterm birth and term birth.Methods The cord bloods were collected from the patients of Putuo District Institute of Materni-ty and Child Health.The preterm group(30 patients)was the patients with spontaneous preterm delivery,and the control group(30 patients)was the patients delivered normal infants at term.The expression levels of hsa-miR-28-3p and ADAM12 mRNA were directly generated by real-time PCR.Results The gestational age and birth weight of preterm group was(30.92 ±1.73)weeks and(1 646 ±357)g,and the control group was (39.73 ±0.58)weeks and(3 301 ±394)g.The hsa-miR-28-3p expression of preterm group(1.03 ±0.23) was significantly lower than that of control group(2.32 ±0.52)in the peripheral blood mononuclear cells (P <0.01 );the ADAM12 mRNA expression of preterm group(0.037 8 ±0.005 6)was significantly higher than that of control group(0.027 6 ±0.003 9)(P <0.05);the hsa-miR-28-3p expression was significantly correlated with the ADAM12 mRNA expression(r =-0.634 1 ,P <0.01 ).Conclusion The lower hsa-miR-28-3p expression of cord blood mononuclear cells may up-regulate ADAM12 mRNA expression,and promotes the occurrence of spontaneous preterm birth.

Expression of recombinant plasmid of homo heterogeneous nuclear ribonucleoprotein E1 in SH-SY5Y cells / 中国组织工程研究

BACKGROUND:The functions of homo heterogeneous ribonucleoprotein E1 are very wide. It can participate in the expression of skeleton proteins in the nervous system. OBJECTIVE:To construct the recombinant plasmid of homo heterogeneous ribonucleoprotein E1 and observe its expression in nerve cells for further studying the functions of it in neurocytes. METHODS:Using pcDNATM4/His C, the homo heterogeneous ribonucleoprotein E1 was subcloned into recombinant plasmid E1-pcDNATM 4/His C, fol owed by enzyming and sequencing. After SH-SY5Y cells were transfected with the recombinant plasmid, western blot analysis and real time RT-PCR were used to detect the expression of homo heterogeneous ribonucleoprotein E1 in SH-SY5Y cells. And the growth of SH-SY5Y cells was observed. RESULTS AND CONCLUSION:We successful y constructed the eukaryotic expressed vector of homo heterogeneous ribonucleoprotein E1. The recombinant plasmids were verified to express in SH-SY5Y cells correctly at mRNA and protein levels. And SH-SY5Y cells generated quickly after homo heterogeneous ribonucleoprotein E1 was over-expressed. The homo heterogeneous ribonucleoprotein E1 is an important protein in neural development. And this vector offers the premise for further studying its function in nervous system.

Effects of Naoxintong on atherosclerosis and inducible nitric oxide synthase expression in atherosclerotic rabbit / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>High levels of nitric oxide (NO) produced by inducible NO synthase (iNOS) have been associated with atherosclerosis processes. Naoxintong is a traditional Chinese medicine for treatment of cerebrovascular and cardiovascular disease. The aim of the present study was to detect and quantify changes of iNOS mRNA and NO levels in the vessel wall after the administration of Naoxintong in an atherosclerotic rabbit model.</p><p><b>METHODS</b>Forty New Zealand white rabbits were randomly divided into five groups (n = 8). Rabbits were fed a standard diet (group A), an atherogenic diet consisting of 79% standard feed + 1% cholesterol + 5% lard + 15% egg yolk powder (group B), an atherogenic diet with Naoxintong 0.25 mg×kg(-1)×d(-1) (group C), an atherogenic diet with Naoxintong 0.5 mg×kg(-1)×d(-1) (group D), or atherogenic diet with Naoxintong 1.0 mg×kg(-1)×d(-1) (group E) for 12 weeks.</p><p><b>RESULTS</b>Supplemented administration of Naoxintong led to a down-regulation of cholesterol (CHOL) (P < 0.001) and low-density lipoprotein (LDL) (P < 0.001). The trend became more notable as the dose of Naoxintong increased; group C vs. group B (CHOL, P = 0.568; LDL-cholesterol (LDL-C), P = 0.119), group D vs. group B (CHOL, P = 0.264; LDL-C, P = 0.027), group E vs. group B (CHOL, P = 0.028; LDL-C, P = 0.002). Atherosclerotic lesions in aorta were reduced in Naoxintong groups (groups C, D, E) compared to group B. Group B had higher iNOS mRNA (P = 0.001) and NO level (P < 0.001) than group A. Compared with the atherogenic diet fed-rabbits, Naoxintong supplements decreased the expression of iNOS mRNA (P < 0.001) and the NO level (P < 0.001) in the vessel wall. Groups given a higher Naoxintong dose exhibited greater benefits. iNOS mRNA and NO levels seemed to be reduced in group C, although the difference did not quite reach statistical significance (iNOS mRNA, P = 0.130; NO, P = 0.038). iNOS mRNA and NO levels significantly decreased in group D (iNOS mRNA, P = 0.019; NO, P = 0.018) and group E (iNOS mRNA, P = 0.004; NO, P < 0.001).</p><p><b>CONCLUSION</b>Naoxintong has beneficial effects on atherosclerosis treatment by reducing expression of iNOS mRNA and the NO level in the vessel wall.</p>

Relationship between neuromyelitis optica-IgG status and spinal cord magnetic resonance imaging in patients with neuromyelitis optica / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Despite the large scale technical innovations that have been made, a number of patients with neuromyelitis optica (NMO) are lacking NMO-IgG in both serum and cerebrospinal fluid. Longitudinally extensive spinal cord (LESC) lesions and linear lesions are associated with NMO. However, differences of spinal cord magnetic resonance imaging (MRI) features, including LESC lesions and linear lesions, between NMO-IgG positive and negative patients still remain unknown. The aim of the present study was to analyze the relationship between NMO-IgG status and spinal cord MRI features in NMO patients, particularly concerned about LESC lesions and linear lesions.</p><p><b>METHODS</b>Clinical data and spinal cord MRI of 52 NMO patients were retrospectively analyzed. Eight patients were NMO-IgG negative in both serum and cerebrospinal fluid, while 44 were NMO-IgG positive. Quantitative data between the two cohorts were compared by the Student's t test or Mann-Whitney U test, the chi-square test or Fisher's exact test was used to evaluate qualitative data.</p><p><b>RESULTS</b>NMO-IgG negative patients had a higher sex ratio (male/female) (P = 0.014). On axial MRI, lesions in the NMO-IgG negative group were mostly located in the peripheral cord (50%), and central lesions (55%) were more common in the NMO-IgG positive group (P = 0.051). LESC lesions were common in both cohorts. None of linear lesions was found in NMO-IgG negative patients, while the NMO-IgG positive cohort had significantly more linear lesions (48%) (P = 0.016).</p><p><b>CONCLUSIONS</b>Patients with NMO-IgG negativity may have different spinal cord lesion features compared to NMO-IgG positive patients. Diagnosis of NMO cannot be excluded even when NMO-IgG negativity and non-specific spinal lesions occur.</p>

Analysis of birth defects in Xinjiang multi-ethnic region / 中国组织工程研究

BACKGROUND: Xinjiang is a multi-ethnic region with significant differences in local geographical position, economic development and climatic environment. OBJECTIVE: To analyze the occurrence and development tendency of birth defects, disease categories and disparity among different ethnic groups and regions in Xinjiang.METHODS: A stratified cluster random sampling observation was performed in 13 counties (cities) according to the status of ethnical distribution and local economics of Xinjiang. Quarter Report Sheet on Babies and The defect babies register card were filled as the scheme of Chinese birth defect monitoring, and ICD10 diagnostic code was adopted in birth defect diagnosis. The birth defects rate was calculated from January 2005 to December 2008, and the disease categories and disparity among different ethnic groups and regions in Xinjiang were analyzed. RESULTS AND CONCLUSION: The average incidence rate of birth defect was 9.74‰, which was dramatically descended in 2006 and ascended afterward yearly. The incidence rate of countryside was higher than city, and male more than female. In geography, south of Tianshan Mountain was higher than north and east in birth defect incidence. Among major ethnic groups in Xinjiang, Sibe and Uygur had the highest birth defect incidence rate, followed by Man, Hazakh, and Han. The birth defect incidence of Han, Uygur and Hazakh people showed descend tendency, Hui, Mongolia, and Man people fluctuated, yet Sibe's rate had a change of rise and fall. The first five birth defect entities were neural tube deformity, cleft lips, anencephaly, congenital hydrocephalus and cleft palate combined with cleft lips. The birth defects rates are different from ethnic groups and regions in Xinjiang.

Three-dimensional domain swapping as a mechanism to lock the active conformation in a super-active octamer of SARS-CoV main protease

Proteolytic processing of viral polyproteins is indispensible for the lifecycle of coronaviruses. The main protease (M(pro)) of SARS-CoV is an attractive target for anti-SARS drug development as it is essential for the polyprotein processing. M(pro) is initially produced as part of viral polyproteins and it is matured by autocleavage. Here, we report that, with the addition of an N-terminal extension peptide, M(pro) can form a domain-swapped dimer. After complete removal of the extension peptide from the dimer, the mature M(pro) self-assembles into a novel super-active octamer (AO-M(pro)). The crystal structure of AO-M(pro) adopts a novel fold with four domain-swapped dimers packing into four active units with nearly identical conformation to that of the previously reported M(pro) active dimer, and 3D domain swapping serves as a mechanism to lock the active conformation due to entanglement of polypeptide chains. Compared with the previously well characterized form of M(pro), in equilibrium between inactive monomer and active dimer, the stable AO-M(pro) exhibits much higher proteolytic activity at low concentration. As all eight active sites are bound with inhibitors, the polyvalent nature of the interaction between AO-M(pro) and its polyprotein substrates with multiple cleavage sites, would make AO-M(pro) functionally much more superior than the M(pro) active dimer for polyprotein processing. Thus, during the initial period of SARS-CoV infection, this novel active form AOM(pro) should play a major role in cleaving polyproteins as the protein level is extremely low. The discovery of AOM(pro) provides new insights about the functional mechanism of M(pro) and its maturation process.

Clinical, molecular pathological and genetic analysis of a Chinese family with dystrophinopathy / 中华神经科杂志

Objective To analyze and determine the clinical, molecular pathology and genetic features of a Chinese family with dystrophinopathy. Methods Clinical data of the proband and his family members were collected. Immunohistochemistry staining was performed on muscular biopsy tissues with antimerosin, emerin and the N, C and central rod domains of dystrophin. Genomic DNA was extracted using standard procedures from the peripheral blood leukocytes. Multiplex ligation-dependent probe amplification (MLPA) was used to test Duchenne muscular dystrophy (DMD) gene to determine the ways and sites of genetic mutation, and analyze the relationships between genotype and phenotype. Results Patients from this family were clinically diagnosed as muscular dystrophy, and they presented serious manifestations although the immunohistochemistry analysis for the proband exhibited partial loss of dystrophin staining, and positive expression with merosin and emerin. Further test with MLPA detected the loss of exons 45--54 in DMD gene in the proband, while his mother had heterozygositic loss in exons 45--54. Conclusions The losses of exons 45--54 in the proband are all derived from his mother, who carries genetic mutation with normal phenotype. He has been diagnosed as dystrophinopathy. At the same time, his partial loss of dystrophin is not parallel to the out-of-frame mutation of the gene and his severe clinical manifestations. Abnormal expression of dystrophin is the pathological basis for dystrophinopathy phenotype. Its clinical outcome depends not only on the degree of the protein expression, but also on the function of the sites where the DMD gene less occurs.

Detection of subtelomeric rearrangements in patients with idiopathic mental retardation/developmental delay / 中华儿科杂志

<p><b>OBJECTIVE</b>To detect subtelomeric rearrangement in patients with idiopathic mental retardation/developmental delays (MR/DD) and to provide new methods and evidence for the etiologic diagnosis of MR/DD in China.</p><p><b>METHODS</b>1.</p><p><b>INCLUSION CRITERIA</b>(1) Moderate to severe MR/DD; (2) no definite perinatal brain injury; (3) no toxication, hypoxia, infection of central nervous system and cranial trauma; (4) routine karyotyping is normal; (5) no evidence of typical inherited metabolic disorder or specific neurodegenerative disorders from cranial neuro-imaging and blood/urinary metabolic diseases screening; (6) no mutation of FMR1 gene in male patients plus one of the following criteria: (1) positive family history of MR; (2) positive family history of miscarriages and perinatal deaths; (3) abnormal growth; (4) facial and non-facial dysmorphism. 2. Multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridization (FISH) were applied to detect subtelomeric rearrangements in patients and their parents.</p><p><b>RESULTS</b>Four cases were identified from 39 selected cases with subtelomeric rearrangements (10%), including der (2) t (2; 4) (pter; pter), 11qter del, 8pter del, and 15p11.2 del. The first two abnormalities of chromosome subtelomeric regions have not been reported yet. All these cases had some small dysmorphologies, such as microcephaly, hypertelorism, low nasal bridge, and three of them had hypotonia. One case had recurrent seizure and abnormal behavior (laughter not associated with happiness), and another case with dysgenesis of corpus callosum and septum pellucidum. Family and perinatal histories were normal for all cases. All chromosome rearrangements were de novo which were not from the parents with normal phenotype. It indicated that all these abnormal rearrangements should be responsible for the mental retardation phenotype of these patients. The phenotype of case 4 was similar to Angelman syndrome, his deletion was actually a kind of interstitial rearrangements. It will be confirmed by DNA methylation test to determine whether the deleted allele was of maternal origin.</p><p><b>CONCLUSIONS</b>The subtelomeric rearrangements were found in 10% patients with idiopathic MR. It indicated that subtelomeric rearrangements should be one of major reasons of MR/DD related to genetic factors. Two novel subtelomeric rearrangements were identified. These de novo rearrangements are probably disease related, because they are not inherited from their parents with normal phenotype. The detection should be carried out for all the patients with idiopathic MR/DD with unknown origin, because one cannot figure out the specific signs for subtelomeric rearrangements. Sequentially use of MLPA and FISH is a more efficient and economic method to detect the subtelomeric rearrangements.</p>

Study of the pathology, immunophenotype, etiology and genetic marker of NK/T-cell lymphoma / 中华血液学杂志

<p><b>OBJECTIVE</b>To study the NK/T-cell lymphoma, search for a more efficacious and simpler method and establish a standard guideline for distinguishing the NK-like T-cell lymphoma from the NK-cell lymphoma.</p><p><b>METHODS</b>Thirty-four NK or T-cell lymphomas from the upper aerodigestive tract (n = 22), skin (n = 2), gastrointestinal (GI) tract (n = 2), lymph nodes (n = 7), and other sites (n = 1) were studied. Immunophenotype was analyzed by immunohistochemistry. In situ hybridization with EBER 1/2 RNA probes was performed. T-cell receptor (TCR)-beta and -gamma gene rearrangement was analyzed by polymerase chain reaction (PCR).</p><p><b>RESULTS</b>Eighteen cases were positive for CD(56) and 16 for TIA-1 in 34 lymphomas cases. All tumor cells in the skin cases were positive for Ki-67. Epstein-Barr virus (EBV) mRNA was detected in 12 upper aerodigestive tumors including 9 of 12 nasal and 3 extranasal tumors. EBER was also detected in 1 of 2 skin lymphomas and both of the 2 GI lymphomas. Clonal TCR-beta and -gamma gene rearrangement was detected in 2 of 22 upper aerodigestive, all of the skin and GI lymphomas, and 6 of 9 nodal and other site lymphomas.</p><p><b>CONCLUSION</b>Most upper aerodigestive NK/T-cell lymphomas are genotypically NK derivation, and a few belong to T lineage. However, NK-like T-cell lymphomas more frequently seen in skin and GI tract. Nodal NK-cell lymphoma are quite rare. These two kinds of lymphomas can only be diagnosed with additional immunohistochemical markers, EBER detection by ISH, TCR gene rearrangement or NK-cell receptors (NKRs) RNA detection. Detection of TCR rearrangement remains the important standard for the diagnosis of T-cell lymphoma.</p>

Molluscicidal experiment of endophytes from Pseudolarix kaempferi Gord / 中国血吸虫病防治杂志

Objective To screen 18 endophytes from Pseudolarix kaempferi Gord for molluscicidal effect and identify them by morphology. Methods Molluscicidal tests were performed according to the immersion test suggested by WHO and the strain screened was identified by the slide culture. Results The mortality rates of snails immersed by JJ18 broth salified (pH=7) were 26.7%, 76.7% and 100.0% for 24,48 h and 72 h, respectively, and 53.3% and 86.7% in 5% and 10% concentrations of JJ18 broth, respectively. The active components were extracellular moiety of the broth which had no acute toxicity to fish, and JJ18 strain belonged to Aspergillus. Conclusion Extracellular moiety of endophyte JJ18 from Pseudolarix kaempferi Gord is a new resource of molluscicide.