Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype.

BACKGROUND: Thoracic and abdominal aortic aneurysms and dissection often develop in hypertensive elderly patients. At higher risk are smokers and those who have a family history of aortic aneurysms. In most affected families, the aortic aneurysms and dissection is inherited in an autosomal dominant manner with decreased penetrance and variable expressivity. Mutations at two chromosomal loci, TAA1 at 11q23 and the TAA2 at 5q13-14, and eight genes, MYLK, MYH11, TGFBR2, TGFBR1, ACTA2, SMAD3, TGFB2, and MAT2A, have been identified as being responsible for the disease in 23% of affected families. RESULTS: Herein, we inform on the clinical, genetic and pathological characteristics of nine living and deceased members of a large consanguineous Arab family with thoracic aortic aneurysm and dissection who carry a missense mutation c.4471G > T (Ala1491Ser), in exon 27 of MYLK gene. We show a reduced kinase activity of the Ala1491Ser protein compared to wildtype protein. This mutation is expressed as aortic aneurysm and dissection in one of two distinct phenotypes. A severe fatal and early onset symptom in homozygous or mild late onset in heterozygous genotypes. CONCLUSIONS: We found that MYLK gene Ala1491Ser mutation affect the kinase activity and clinically, it presents with vascular aneurysms and dissection. We describe a distinct genotype phenotype correlation where; heterozygous patients have mild late onset and incomplete penetrance disease compared with the early onset severe and generally fatal outcome in homozygous patients.

High-efficiency Utilization And Sustainable Development of Traditional Chinese Medicine Resource: Based on Discovery of Functional Components / 世界科学技术-中医药现代化

As national strategic resources,traditional Chinese medicine (TCM) resource is the material basis for the pharmaceutical industry and health services.The high-efficiency utilization of TCM resource is a major strategic issue that realize the resource conservation and environment friendly recycling economy,guarantee the sustainable development of medicine.But currently,on one hand,the wild TCM resource was seriously damaged and in a serious shortage of stock,the cultivation variety was degenerated,the tending of endangered medicinal materials and the development of alternative varieties were faced many problems.On the other hand,the limited resources cannot be effectively utilized,which results in the waste of resources.Therefore,two ecological restricted resources,poria cocos and Chinese gall,were studied for comprehensive utilization of resources to explore the comprehensive exploitation and utilization of TCM resource as well as the pattern of sustainable development.We suggested that TCM resource should be taken into account as a whole for comprehensive utilization.We should especially pay attention to basic research for the sustainable development of TCM resource,discovery of bioactive substance,excavation and transformation for functional components,the use of biotechnology,the product development,the formation and extension of industry chain.So as the comprehensive exploitation and utilization of TCM resources and sustainable development would be realized.

Percentile curves on growth among breastfed 1-4 year olds in 8 urban areas / 中华流行病学杂志

Objective To construct the growth percentile curves of weight-,length/height-,head circumference and BMI for 1 to 4 year-olds who had been breastfed in urban areas.Methods Data was from the longitudinal study on 1 025 breastfed children aged 1 to 4 years,in 8 urban areas during 2008-2012.MLwiN2.25 was selected to construct the multi-level models of weight-for-age,length for-age,head circumference-for-age and BMI-for-age.The models included many growth relevant factors including gender,age,family and social demographic characteristics,perinatal factors,parent biological characteristics,dietary patterns and diseases of childen.Based on these models,predicted values (P3,P15,P50,Ps5,P97) were estimated to fit the percentiles reference curves.Results The percentiles reference curves of weight-,length/height,head circumferenceand BMI-for-age for the 1-4 year-olds who had been breastfed in the urban areas were developed.Differences of all the indicators between boys and girls were statistically significant (P＜0.001).Weight,length/height,head circumference and BMI were higher in boys than those in girls,with an average differences as 0.56-0.76 kg,0.89-1.12 cm,0.64-0.91 cm and 0.31-0.52 kg/m2.Conclusion The percentiles reference curves on growth,constructed by the longitudinal observational data and scientific method,were important in reflecting the development ofbreastfed children in urban areas.

Percentile curves on growth among breastfed 1-4 year olds in 8 urban areas / 中华流行病学杂志

Objective To construct the growth percentile curves of weight-,length/height-,head circumference and BMI for 1 to 4 year-olds who had been breastfed in urban areas.Methods Data was from the longitudinal study on 1 025 breastfed children aged 1 to 4 years,in 8 urban areas during 2008-2012.MLwiN2.25 was selected to construct the multi-level models of weight-for-age,length for-age,head circumference-for-age and BMI-for-age.The models included many growth relevant factors including gender,age,family and social demographic characteristics,perinatal factors,parent biological characteristics,dietary patterns and diseases of childen.Based on these models,predicted values (P3,P15,P50,Ps5,P97) were estimated to fit the percentiles reference curves.Results The percentiles reference curves of weight-,length/height,head circumferenceand BMI-for-age for the 1-4 year-olds who had been breastfed in the urban areas were developed.Differences of all the indicators between boys and girls were statistically significant (P＜0.001).Weight,length/height,head circumference and BMI were higher in boys than those in girls,with an average differences as 0.56-0.76 kg,0.89-1.12 cm,0.64-0.91 cm and 0.31-0.52 kg/m2.Conclusion The percentiles reference curves on growth,constructed by the longitudinal observational data and scientific method,were important in reflecting the development ofbreastfed children in urban areas.

Effect of Zuogui Pill on the Expression of Gap Junction Protein 43 in Ovarian Tissue of Mice with Chemo-therapy-induced Premature Ovarian Failure / 中国药房

OBJECTIVE:To study the effect of Zuogui pill on the expression of gap junction protein 43(Cx43)in ovarian tis-sue of mice with premature ovarian failure(POF)induced by intraperitoneal injection of cyclophosphamide(CTX),and explore its mechanism in the treatment of chemotherapy-induced POF. METHODS:72 mice were randomly divided into blank group,model group,Estradiol valerate tablet group (positive control,0.00013 g/kg),Zuogui pill low-dose,medium-dose,high-dose groups (13.65,40.95,122.85 g/kg)by body mass,10 in each group. Except for blank group,other groups were reduce POF model by ip CTX,once a day,for 20 d. Meanwhile,the mice were intragastrically administrated related medicines,once a day,for 30 d. After 2 h of last administration,reverse transcription-polymerase chain reaction method and Western blot method were used to detect the Cx43 mRNA and protein expressions in ovarian tissue respectively,and immunohistochemistry method was adopted to detect the distribution of Cx43 protein in ovarian tissue. RESULTS:Compared with blank group,Cx43 mRNA and protein expressions in ovarian tissue of mice in model group were obviously weakened,and the distribution of Cx43 protein in follicle and granulocytes were obviously reduced(P<0.01). Compared with model group,Cx43 mRNA and protein expressions in ovarian tissue of mice in Estradiol valerate tablet group and Zuogui pill medium-dose,high-dose groups were obviously strengthened,and the distribution of Cx43 protein in follicle and granulocytes were obviously increased(P<0.01). CONCLUSIONS:Zuogui pill can increase the Cx43 mRNA and protein expressions in ovarian tissue of CTX-induced POF mice,increase the distribution of Cx43 in follicle and granu-locytes and gap junction function,which may be one of the treatment mechanism of POF.

Current status of neonatal resuscitation in 163 medical institutions in China / 中华围产医学杂志

Objective To analyze the current status of neonatal resuscitation in medical institutions in China.Methods With the number of obstetric beds as the inclusion criteria,the survey was conducted in 163 medical institutions randomly selected in 11 provinces (including 51 tertiary hospitals,88 secondary hospitals and 24 primary hospitals) from October 1 to December 31 in 2011.The mail-questionnaire was sent to collect information about system establishment,personnel training,neonatal resuscitation equipment etc.Statistical data was analyzed by t-test,variance analysis and Chi-square test.Results The incidence of neonatal asphyxia among live birth babies was 2.15％ (3328/154 853) in tertiary hospitals,1.41％ (2829/200 731) in secondary hospitals and 1.50％ (701/46 695) in primary hospitals (x2=298.559,P＜0.01).The mortality rate during delivery was 0.41‰ (63/154 853),0.24‰ (48/200 731) and 0.60‰ (28/46 695) at the three different level hospitals,respectively (x2=16.993,P＜0.01).The mortality rate within 24 hours after delivery was 0.42‰ (65/154 853) in tertiary hospitals,0.24‰ (49/200 731) in secondary hospitals and 0.62‰ (29/46 695) in primary hospitals (x2 18.075,P＜0.01).About 86.5％ (141/163) of the included hospitals maintained routine neonatal resuscitation trainings,but only 73.0％ (119/163) applied resuscitation training equipments during the trainings.The outfit rate of basic neonatal resuscitation equipments (such as neonatal laryngoscope,radiant heater) was high in most hospitals,but the outfit rate of equipments recommended by the new guideline (such as umbilical venous catheter,T piece and oxygen saturation meter) was low.For example,the outfit rate of umbilical venous catheter was 23.5％ (12/51),10.2％ (9/88) and 4.2％ (1/24) in tertiary,secondary and primary hospitals respectively (x2 =6.992,P ＜ 0.05).47.9％ (78/163) of the hospitals had set up neonatal intensive care unit,with the proportion in tertiary,secondary and primary hospitals being 80.4％ (41/51),34.1％ (30/88) and 27.2％ (7/24),respectively (x2=31.677,P＜0.01).Most of the hospitals (80.4％,131/163) could ensure the pediatricians being presented in the delivery room for high risk women,and the proportion was 94.1％ (48/51),79.5％ (70/88) and 54.2％ (13/24) in tertiary,secondary and primary hospitals,respectively (x2 =16.591,P＜0.01).There were 88.3％ (144/163) of the hospitals had routine neonatal resuscitation case audit,with the proportion in the three different level hospitals being 94.1％ (48/51),92.0％ (81/88) and 62.5％ (15/24),respectively (x2 =18.388,P＜0.01).Conclusions Strengthen the training,equipment and system establishment in primary medical institutions is conducive to promote neonatal resuscitation.

Measurement of serum vascular endothelial growth factor, angiopoietin-1 and angiopoietin-2 in patients with rheumatoid arthritis and the correlation with synovial lesions / 中华风湿病学杂志

Objective To evaluate the clinical significance of serum level of vascular endothelial growth factor (VEGF),angiopoietin (Ang)-1 and Ang-2 in patients with rheumatoid arthritis (RA).Methods Serum levels of VEGF,Ang-1 and Ang-2 were measured with enzyme linked immunosorbent assay (ELISA).Twenty-one healthy subjects,24 osteoarthritis patients and 82 rheumatoid arthritis patients were included.We defined active and inactive group according to RA disease active score,while early active RA and late active RA group were defined on the basis of disease course.There were 28 early active patients,32 late active patients and 22 inactive patients with rheumatoid arthritis.At the same time 29 RA patients were examined with ultrasound.Synovial hypertrophy (US joint count SH,US index SH),synovial fluid(US joint count SF,US index SF),resistance index and power Doppler signal (US joint PD,TSS) were scored.The correlation was analyzed.We also detected the serum levels of VEGF,Ang-1,Ang-2,ESR,CRP and DAS28 in 25patients with active RA after 3 month regular treatment.We used one-way ANOVA to compare the differences between groups,and Wilcoxon test to compare the differences between before and after treatment.We analyzed the correlation with linear correlation or Spearman rank test.Results The serum level of VEGF [(1285 ±272) pg/ml],Ang-1 [(0.55±0.25)ng/ml] in patients with rheumatoid arthritis were higher than osteoarthritis patients [(934±80) pg/ml,(0.32±0.16) ng/ml] and normal controls [(565±115) pg/ml,(0.24±0.21) ng/ml],and the serum level of Ang-2 [(1.36±0.40) ng/ml] was higher than normal controls [(0.52±0.32) ng/ml].The serum level of VEGF [(1355±194) pg/ml] in early active patients was higher than late active patients [(1096±477) pg/ml] and inactive patients [(862±91) pg/ml].The serum level of Ang-1 in early active patients,late active patients and inactive patients with rheumatoid arthritis had no statistically significant differences.The serum level of Ang-2 in inactive patients [(2.0±2.0) ng/ml] was significantly higher than late active patients [0.9±0.8) ng/ml].The serum level of VEGF was positively correlated with US joint SH,US index SH,US joint PD,and TSS.The serum level of Ang-1 was positively correlated with US joint SH,US joint PD,and TSS.The serum level of VEGF and Ang-1 were negatively correlated with RI.The serum level of Ang-2 was not correlated with US joint SH,US index SH,US joint SF,US index SF,US joint PD,TSS and RI.In the active RA patients,the serum level of VEGF,Ang-1 and Ang-2 was positively correlated with each other.In the inactive RA patients,the serum level of VEGF,Ang-1 and Ang-2 was not correlated with each other.The serum level of VEGF and Ang-1 before treatment was slightly higher than that of after treatment,but the difference was not statistically significant.The serum level of Ang-2 after treatment was significantly higher than that before treatment.ESR,CRP and DAS28 of after treatment were lower than those before treatment.Conclusion The serum VEGF and Ang-1 level could be used as useful index to reflect RA synovial thickening and angiogenesis The serum level of Ang-2 could be used as one of the efficacy indices.They may influence each other,and they may be the key factors that mediate the onset and development of RA angiogenesis and synovial inflammation.

Effect of a pilot intervention on setting up hospital-based neonatal resuscitation leading group in 12 hospitals in China / 中华围产医学杂志

Objective To evaluate the effect of a pilot intervention on setting up a hospital-based neonatal resuscitation leading group in 12 hospitals. Methods One provincial-level, two prefecturelevel and one county-level hospitals in Jiangxi, Liaoning and Hunan province were selected to participate in the intervention. A neonatal resuscitation leading group was set up in each hospital to investigate the mode of resuscitation practice training and re-training, improve and carry on the cooperation between obstetricians and pediatricians, record the steps of neonatal resuscitation of asphyxia cases and lead the exploration of the problems occurred during the process in their own hospital. The changes of asphyxia incidence and neonatal resuscitation process were analyzed to evaluate the effect of the intervention. Results (1) Incidence of neonatal asphyxia during intervention period: 315 neonatal asphyxia cases were recorded, among which 89.5 % (n = 282) were mild and 10. 5% (n=33) cases were severe asphyxia. The mean one-minute Apgar score was the lowest in county-level hospitals (5. 40±1.56), followed by provincial-level hospitals (5.63 ±1.67)and prefecture-level hospitals (6.03 ± 1.41). (2) Resuscitation was not performed according to the guidelines in 47. 9% (151/315) of asphyxia cases. Bag and mask ventilation was not performed according to guideline in 36. 5% (115/315) of cases. (3) Changes of asphyxia incidence after the intervention: the incidence of asphyxia in provincial-level (4.23 % vs 2.66 %, χ2 = 5. 021, P＜0.05)and prefecture-level (2.83% vs 1.67%, χ2 = 4. 948, P＜0.05) hospitals decreased significantly after the intervention. The incidence of severe asphyxia in both provincial-level (χ2 =3. 001, P＞0.05) and prefecture-level (χ2= 0. 966, P＞ 0. 05) hospitals decreased with no statistical significance. The asphyxia incidence in county-level hospitals decreased from 2. 48% to 1. 22% (χ2 = 2. 989, P =0. 084). The incidence of severe asphyxia in county-level hospitals decreased from 0.39% to 0. 00%(χ2=2. 567, P= 0. 035). Conclusions Setting up a hospital-based neonatal resuscitation leading group is an effective method to strengthen resuscitation practice training, promote the cooperation between departments, improve the level of neonatal resuscitation practice and therefore decrease the incidence of neonatal asphyxia in the hospital.

Determination of d-borneol in the different parts of Cinnamomum camphora by GC-MS / 中国中药杂志

<p><b>OBJECTIVE</b>To measure and compare the content of d-borneol in the different parts of Cinnamomum camphora by GC-MS.</p><p><b>METHOD</b>With water-steam distillation and GC-MS method, d-borneol was extracted and determined.</p><p><b>RESULT</b>The linear range of d-borneol was 0.4-2.8 microg (r = 0.999 9). The average recovery was 95.40%, and RSD was 0.56%.</p><p><b>CONCLUSION</b>The method is simple and accurate with good separation. The content of d-borneol in the dried leaves 63.97% in the crude exfract. It can provide the proof of the exploitation of C. camphora.</p>

Clinical significance of anti-β2glycoprotein I antibodies in systemic lupus erythematosus / 中华微生物学和免疫学杂志

Objective To investigate the clinical application of anti-β2 glyeoprotein Ⅰ antibodies (IgG, IgM, IgA)in systemic lupus erythematosus(SLE). Methods The anti-β2-GP Ⅰ antibodies and anti-cardiolipin antibodies(ACL) level were measured by ELISA in 100 SLE patients, 39 other rheumatoid arthri-tis patients and 30 healthy control people. Their clinical application was analyzed in SLE diagnose and thera-py. Results The level of anti-β2-GP Ⅰ (IgG, IgM, IgA)were significantly higher in SLE than that in healthy (P < 0. 01 ). Sensitivity, specificity, positive predictive value and negative predictive value were 17.2%, 95.7%, 85.0% and 44. 6%, respectively. There was a significant and positive correlation be-tween anti-β2-GP Ⅰ antibodies and ACL antibodies ( IgG, IgM, IgA) (r = 0.418, 0. 624, 0.518, 0. 583, P <0.01). In multivariate analysis the factors(anti-β2-GP Ⅰ antibodies, ACL antibodies, dsDAN, u1-RNP, Sm, SSA, SSB, Jo-1, Scl-70, P-protein, PT, APTT) associated with SLE disease activity index(SLEDAI) were anti-β2-GP Ⅰ (IgG) and dsDNA. Conclusion anti-β2-GP Ⅰ antibody has high specificity and positive predict value, also is associated with SLE's thrombosis. It has some values in the clinical application.

The regulating effect of heme oxygenase/carbon monoxide on hypoxic pulmonary vascular structural remodeling.

Hypoxic pulmonary vascular structural remodeling (HPVSR) is the important pathologic basis of hypoxic pulmonary hypertension (HPH). The discoveries of endogenous gaseous messenger molecules, nitric oxide (NO) and carbon monoxide (CO), have been moving the research of HPVSR to a very new phase. But the effect and significance of heme oxygenase (HO)/CO on the development of HPVSR have not been fully understood. In this study, we observed the alteration of endogenous HO/CO system in five time points during 14 days and found that the content of CO in lung homogenates in rats with HPVSR increased in a time-dependent double-peak manner. Exogenous supply of ZnPP-IX, an inhibitor of HO-1, decreased the content of CO in lung homogenate, decreased the expression of Fas and apoptotic cells in pulmonary artery smooth muscle cells (PASMCs), up-regulated the expression of PCNA in PASMCs, and worsened HPH and HPVSR of hypoxic rats. Meanwhile, exogenous supply of CO played an adverse action. The results showed that the up-regulation of HO/CO exerted a protective role in the development of HPVSR.