Background Malignant osteopetrosis is an extremely rare dense bone disease,and sometimes features ocular disease and cranial nerve palsy.This disease received high attention because of its poor prognosis.And whether the eye manifestation improved after treatment is a problem for concern.Objective This study was to clarify the clinical manifestation,treatment and prognosis of malignant osteopetrosis associated with ocular disease.Methods A retrospective study was adopted.Two children with malignant osteopetrosis associated with eye symptoms were collected from Beijing Children Hospital.The systemic and ocular medical examinations were performed on the patients,including physical examination,hematology laboratory examination,abdominal B ultrasound and bone X ray radiography,external ocular examination,flash visual evoked potential (F-VEP) and CT of orbit.Bone marrow hematopoietic stem cell transplantation was employed and 5-year following-up was cinducted on the chidren.Results The children showed increased bone density,systemic bone sclerosis,basilar thickening,abnormalities of hematology indexes,anemia,hepatosplenomegaly,optical canal stenosis and abnormality of F-VEP P2 wave.In addition,optical disc pale,facial paralysis and paralytic esotropia were seen in a female child and alternating strabismus was found in another boy.After successful treatment,the systemic symptoms remitted in both children,but the eye findings remained unchanged in the female child during the follow-up duration.However,the strabismus diminished in the male child.The optical bone canal widening to 1.9 mm 1 year and 3.2 mm 5 years after treatment in the female child.Conclusions Strabismus and eye disease are the signs of malignant infantile osteopetrosis and reflections of the impairment of the central nervous system.The pathogenetic mechanism of malignant osteopetrosisrelated eye disease is below understanding now.Early bone marrow hematopoietic stem cell transplantation for malignant osteopetrosis can offer the best chance of long-term survival and improve the prognosis of eye diseases.

ObjectiveTo investigate the diagnostic value of EUS-FNA for pancreatic masses and correlated influential factors. MethodsWe retrospectively analyzed the clinical data of 101 patients with pancreatic lesions who underwent EUS-FNA from January 2008 to January 2010. The clinical data enrolled 10 factors including patient gender, patient age, lesion location, lesion size, lesion characteristics, negative suction pressure, times of access, real-time cytological diagnosis, type of EUS and operators' experiences.ResultsThe overall diagnostic accuracy, sensitivity, specificity, positive predictive value and negative predictive value of EUS-FNA were 85. 1％, 81.1％, 96. 3％, 98. 4％ and 65.0％, respectively. Univariable logistic regression analysis indicated that lesion size, lesion characteristics, negative suction pressure, operators' experience were correlated factors of EUS-FNA positive rate, while lesion size was the only correlated factor of EUS-FNA diagnostic accuracy ( OR =1. 984,95 ％ CI: 1. 141 ～ 3. 451, P =0. 015 ). Every 1 cm the lesion increased, by 1.67 times of opportunity the positive rate became, by 1.83 times of opportunity the accuracy was. The lesion size and lesion characteristics were independent correlated factors of EUS-FNA positive rate (OR=2.012, P=0.000; OR =10.218, P=0. 002). The positive rate of EUS-FNA in solid lesions was 10. 2 times of that in cystic lesions. Lesion size was the independent correlated factors of EUS-FNA diagnostic accuracy (OR =1. 984, P =0. 015 ). ConclusionEUS-FNA can effectively make a pathological diagnosis of pancreatic masses with high diagnostic accuracy and specificity. EUS-FNA diagnostic positive rate and accuracy were both positively correlated with pancreatic lesion size. EUS-FNA positive rate of solid pancreatic lesions is significantly higher than that of cystic lesions.

Objective To provide an objective basis for differential diagnosis of pancreatic diseases through quantitative analysis of the different features of contrast-enhanced endoscopic ultrasonography (CE-EUS). Methods A total of 32 patients with suspected or confirmed pancreatic neoplasms or chronic pancreatitis and 19 patients who underwent EUS due to other digestive problems other than pancreatic disease were enrolled. Features of blood perfusion of the regions of interest during CE-EUS were analyzed quantitatively. The findings were compared with cytological and/or histopathological results of EUS-FNA and/or surgery.Results Quantitative analysis of CE-EUS showed peak intensity (PI) value of 19 normal pancreas was 0.648 ±0. 174, which was statistically different from that of pancreatic cancer and pancreatic cystic lesions. Based on ROC, the cutoff of differential diagnosis was 0. 505, and the sensitivity and specificity were 100. 0% and 84. 2%, respectively. PI value of 6 chronic pancreatitis was the highest (0. 772 ±0. 106). In pancreatic neoplams, PI values of pancreatic carcinoma, pancreatic cyst and pancreatic endocrine tumors were significantly different. Based on a cutoff of 0. 195, the sensitivity and specificity of differentiation of pancreatic carcinoma and pancreatic cyst were 85.7% and 87.5%, respectively. PI value of 14 pancreatic carcinoma and that of 4 pancreatic endocrine tumors were 0. 321 ± 0. 119 and 0. 763 ± 0. 115, respectively. Through the comparison between the AT and TTP of the focal lesions and surrounding pancreatic parenchyma, 78.6% pancreatic carcinoma showed slow falling-in and rapid wash-out and all the endocrine tumors showed rapid falling-in and rapid wash-out. The PI value of 8 patients with pancreatic cyst was 0. 181 ±0. 036, with no enhanced blood flow in the cyst. The TIC was a straight line. Conclusion CE-EUS with quantitative analysis is a promising method that can be a more objective basis in the differential diagnosis of pancreatic diseases.

ObjectiveTo evaluate the accuracy of EUS,EUS-guided fine needle aspiration ( EUSFNA) and targeted biopsy in the diagnosis of wall-thickened gastric lesions with negative malignant results ofendoscopic biopsies.MethodsA retrospective study was carried out in 57 patients who were found with thickened gastric wall of negative malignant endoscopic biopsies and underwent EUS from January 2008 to December 2010 in our hospital.Compared the EUS findings with the surgical results and follow-up status.The diagnostic yield of EUS was characterized by the disappearance of the layers or the changes of thickness of gastric wall,the characteristics of echo imaging,and the results of EUS-FNA or EUS targeted biopsy were recorded to evaluate the value of EUS.ResultsOf 57 cases,gastric cancer was confirmed in 19,lymphoma in 10,dysplasia in 1,Menetrier's disease in 1 and inflammatory changes in 26.EUS could clearly demonstrate the changes of gastric wall including the thickness and the changes of layers,with the accuracy rate of 73.07％ ( 14/19 ) on gastric cancer.EUS diagnosed gastric cancer in 26 cases,in which 14 (53.8％) were confirmed by pathology.Gastric lymphoma was suspected by EUS in 20 cases,in which 10 (50.0％ ) were proved.EUS-FNA was conducted in 19 cases,with positive result in 9 (accuracy rate 50％ ).EUS-guided targeted deep biopsy or piece-meal biopsy were performed in 10 cases,with 8 malignant results.ConclusionEUS with/without EUS-FNA is not a golden standard for the diagnosis of gastric lesions in thickened gastric wall,yet it still has some significance.

The endophytic fungus named FSN006 was isolated from the inner bark of Juglans mandshurica. It grew quickly and formed circular colony on PDA plate. The upper side of the colony was white, while the lower side of the colony and the conditioned medium were light yellow as a result of significant yellow pigment substances were produced and secreted by the fungi. Green elliptic conidia appeared when cultured on CMX plate. Based on the morphology identification and ITS sequence, it was clear that this fungus belonged to the Deuteromycotina, HyPhomycetes, Moniliales, Trichoderma longibrachiatum. The conditioned medium of FSN006 showed a high anti-tumor ability against liver cancer cell-HepG2, and reached its IC50 concentration after being diluted 20 times, while the IC50 concentration of curcumine was(11.49 +/- 0.12) mg x L(-1). In addition, there was preeminent selective inhibiting effect against the normal liver cell strain HL-7702 and its caner counter strain HepG2. The inhibiting effect against strain HL-7702 was only one quarter of that against HepG2 at the concentration of IC50. Therefore, the fermentation of FSN006 may provide a possible way to produce anticancer drug with higher efficiency and lower toxicity.
Antineoplastic Agents ; chemistry ; isolation & purification ; metabolism ; pharmacology ; Biological Factors ; chemistry ; isolation & purification ; metabolism ; pharmacology ; Cell Line, Tumor ; Cell Proliferation ; drug effects ; Humans ; Juglans ; microbiology ; Plant Bark ; microbiology ; Trichoderma ; chemistry ; genetics ; isolation & purification ; metabolism

Objective To investigate the association between bicuspid aortic valve ( BAV ) morphologic findings ( raphe vs nonraphe) ,the degree of valve dysfunction and prognosis . Methods Clinical and echocardiographic data in 317 BAV patients were analyzed retrospectively . According to the Sievers classification ,the morphologic BAV findings were categorized into no raphe ( type 0) ,one raphe ( type 1) and two raphes ( type 2 ) . T he patients with type 1 were further divided into three subtypes ,including R‐L subtype ( fusion of the left and right coronary cusps ) ,R‐N subtype ( fusion of the right and noncoronary cusps) and L‐N subtype ( fusion of the left and noncoronary cusps ) . Results Of the 317 patients ,there were 83 ( 26 .2% ) of type 0 ,232 ( 73 .2% ) of type 1 and 2 ( 0 .6% ) of type 2 .Among the 232 patients of type 1 ,there were 126 ( 54 .3% ) of R‐L subtype ,88 ( 37 .9% ) of R‐N subtype and 18 ( 7 .8% ) of L‐N subtype . BAV with raphe had a significantly higher prevalence of aortic valve calcification [ 120 ( 51 .3% ) vs 19 ( 22 .9% ) , P ＜ 0 .001 ] ,with significantly higher frequencies of aortic stenosis [ 164 ( 70 .1% ) vs 6 ( 7 .2% ) , P＜ 0 .001 ] ,aortic regurgitation [ 168 ( 71 .8% ) vs 40 ( 48 .2% ) , P ＝ 0 .001 ] ,increased left ventricular mass[ ( 253 .4 ± 113 .7) g vs ( 176 .4 ± 69 .3) g , P ＜0 .001] and left heart failure [ 34 ( 14 .5% ) vs 3 ( 3 .6% ) , P ＝0 .009] . Furthermore ,the dilation of aortic root and ascending aorta in BAV patients with raphe were significantly higher than those without raphe ( P ＜0 .01 ) ,however ,ascending aortic aneurysm rates were not significant between BAV with and without raphe[ 23( 9 .8% ) vs 4( 4 .8% ) , P ＝0 .251] . T he patients in R‐N subtype had a significantly higher proportion of aortic valve calcification than those in R‐L and L‐N subtype [ 55 ( 62 .5% ) vs 57 ( 45 .2% ) vs 6 ( 33 .3% ) , P ＝ 0 .01 ] ,with a significantly higher frequency of severe aortic stenosis [ 50 ( 56 .8% ) vs 21 ( 16 .7% ) vs 3 ( 16 .7% ) , P ＜0 .001 ] . However , there was no significant difference among different subtypes in other complications( P ＞0 .05).Conclusions T he presence of raphe is associated with a higher frequency of significant aortic valve calcification ,aortic valve dysfunction ,and increases left ventricular mass and left heart failure .T he R‐N type is also associated with aortic valve calcification and severe aortic stenosis .

Tyrosinase is an important enzyme in controlling the formation of melanin in melanosome, and plays a key role in the pigmentation of hair and skin. The abnormal expression or activation of tyrosinase is associated with several diseases such as albinism, vitiligo, melanoma and Parkinson disease. Excessive deposition of melanin could cause diseases such as freckles and brown spots in the human body, and it is also closely related to browning of fruits and vegetables and insect molting. Detecting and inhibiting the activity of tyrosinase is of extraordinary value in the progress of diagnosis and treatment of these dis-eases. Therefore, many selective optical detection probes and small molecular inhibitors have been developed, and have made significant contributions to the basic and clinical research on these diseases. In this paper, the detection and inhibition of tyrosinase and their application in whitening products are reviewed, with special emphasis on development of fluorescent probes and inhibitors. Hopefully, this review will help design more efficient and sensitive tyrosinase probes and inhibitors, as well as shed light on novel treatment of diseases such as melanoma.

Objective:To analyze the characteristics of malaria epidemic situation before and after malaria elimination in Qiandongnan Prefecture, and to provide the basis for establishment of effective strategies and measures to consolidate the achievements of malaria prevention and control.Methods:The data of malaria cases in 16 counties (cities) of Qiandongnan Prefecture from 2005 to 2018 were collected, and descriptive epidemiological method was used to analyze the infection rate of Plasmodium among local residents and floating population before (2005-2011) and after (2012-2018) elimination of malaria, and the characteristics of population distribution, seasonal distribution, species of Plasmodium and types of malaria vectors were analyzed. Results:Before elimination of malaria, total of 1 412 cases of malaria were reported, among those cases, 1 361 cases were local cases, accounting for 96.39% of the total cases. After elimination of malaria, total of 17 cases were reported, all of them were imported cases. After comparison of malaria cases before and after the elimination, the proportion of people aged from 18 to 60 was 70.54% (996/1 412) before the elimination, all 17 imported cases were 18-60 years old after the elimination, and the proportion of children/students decreased from 24.65% (348/1 412) before the elimination to 0 after the elimination. The peak incidence of malaria cases before the elimination was from June to October, and cases occurred every month. After the elimination, the imported cases were sporadic. Plasmodium vivax was the main species of Plasmodium before the elimination (98.58%, 1 392/1 412), and Plasmodium falciparum was mainly imported after the elimination (70.59%, 12/17). Before and after the elimination, Anopheles sinensis, the malaria vector, was the dominant population, but no distribution of Anopheles minimus and Anopheles anthropophagus was found after 2015. Conclusions:After the elimination of malaria in Qiandongnan Prefecture, there is a risk of local malaria cases caused by imported cases. It is suggested that local authorities should focus on the treatment of suspected malaria cases and vector surveillance of overseas returnees in the future.

Objective To evaluate the accuracy and value of automatically assessing left ventricular systolic function in rats with myocardial infarction ( MI) by myocardial contrast echocardiography ( MCE) based on neutrosophic similarity score( NSS) algorithm. Methods According to different infarction size (IS),SD rats were divided into large MI (MI-L,IS≥15% ) and small MI (MI-S,IS＜15% ) groups. MCE was performed before MI and at 7,28 days after MI. In vitro study:the automatic segmentation of the endocardial contour based on neutrosophic similarity score algorithm was compared with the manual segmentation boundary. In vivo study:the left ventricular ejection fraction( LVEF) were calculated using the NSS system,biplane Simpson and PV-loop,respectively,and then NSS-LVEF,Simpson-LVEF and PV-LVEF were acquired,respectively. The IS was calculated by Masson and HE staining. The consistency between the two LVEFs was evaluated by Bland-Altman. The intraclass correlation coefficient ( ICC) was calculated to evaluate the reproducibility of MCE analysis system. Results ① The endocardial contour obtained by automatic segmentation had good agreement with the boundary of artificial tracing. ② There was no significant difference among the three LVEFs in same group ( F ＝0.028, P ＝ 0.973),but there was significant difference in different group ( F ＝78.61, P ＜0.01). NSS-LVEF was well consistent with both Simpson-LVEF and PV-LVEF. ③ The ICC of NSS algorithm for inter-observer and intra-observer were 0.96 and 0.98,respectively. ④Compared with before MI and at 7 days after MI,the LVEF in MI-L and MI-S groups at 28 days after MI decreased significantly ( P ＜0.05),especially in MI-L group ( P ＜0.01). There was significantly negative correlation between LVEF and IS ( r ＝ －0.917, P ＜ 0.01). Conclusions Left ventricular endocardium can be identificated automatically and LVEF can be calculated rapidly and accurately by MCE based on neutrosophic similarity score algorithm in rats with myocardial infarction.

This article briefly introduces the strategic framework of genetic technology of Chinese government and Chinese Academy of Sciences, and the remarkable progress of genetic technology under this guidance. Using bibliometric and patent analysis methods, we reveal the current status of genetic technology research and development in China. China has made great achievements, both in terms of quantity and quality of academic publications, and quantity of patent applications. However, there are still something need to be improved, such as international cooperation and combination the efforts of enterprises, universities and research institutes. In the future, China will improve top-level planning and government guidance and supervision. In addition, it is also crucial to encourage investment from enterprise and communities, and to broadcast the science and technology to the whole society. Moreover, actions have to be taken to reduce the risks of bio-safety and bio-security. The innovation and breakthrough of genetic technology is a key to sustainable development in the bio-industry and bio-economy in China.