Congenital cataract is the leading cause for low vision and blindness in infancy and childhood.One third of congenital cataract cases are associated with genetic mutation and hereditary,and the etiology of congenital cataract is heterogenous and its phenotype is variable.The known mutation genes include encoding structural lens protein,gap junction protein,membrane protein and lens-developing-related regulatory protein.Location and identification of mutation genes in congenital cataract patients are necessary for us to understand the molecular defects and pathophysiologic features of congenital cataract.With the development of molecular biology techniques,the study on the mechanism of congenital cataract has made great progress,which is helpful for us to further understand the heredity pattern as well as the influence of environment and nourishment to the metabolism of lens.The purpose of this review was to summarize the literature of current advance in the study on molecular genetic basis of congenital cataract.

The optic nerve disease is a kind of diseases that seriously affect the visual function. In recent years, magnetic resonance diffusion tensor imaging ( DTI ) technology has been widely applied in the field of optic nerve diseases. Compared with the ophthalmic testing, such as optical coherence tomography imaging, visual evoked potential, field of vision, this method has obvious advantages. It not only can directly show the morphology changes of the optic nerve, visual pathway and visual cortex, but also can quantitatively analyze the morphological and pathological changes of the optic nerve, visual pathway and the visual cortex. This article reviews the imaging principle of diffusion tensor imaging, the progress and development prospect of diffusion tensor imaging in the study of the optic nerve diseases.

Objective To summarize the mammary gland granulosa cell tumor 1 case of elderly patients with diabetes perioperative nursing methods chest wall reconstruction. Methods For this disease characteristics, and the patient′s individual situation to develop nursing measures, including giving surgery patients perioperative care, diabetes care, skin flap of the observation and nursing care, chest wall defect reconstruction, through intraoperative nursing with 3 d technology, psychological nursing, function exercise, active intervention. Results Through nursing, this example patient recovery smoothly, fine discharged from hospital. Conclusions In view of the patient's condition and an individual case, to develop nursing measures, improve the preoperative postoperative nursing is the key to the successful operation and patient recovery.

Objective To evaluate operation method in with microscopic flap breast reconstruction after breast cancer case management care blueprint. Methods According to the building of case management care blueprint, according to the questions, plan, action, observation and reflection, improvement of summarizing the research process, formulate, modify with microscopic flap breast reconstruction after breast cancer case management care blueprint, and applied to clinical. Results Through the research of two phase research analyses the results after the intervention. Microscopic flap breast reconstruction after breast cancer patients′ quality of life evaluation, cancer, mental adaptation level, determination of postoperative body image, adjust the importance of breast score in the first stage, respectively (28.54 ± 3.78), (13.56±2.51), (2.71±1.08), (3.00±0.87) points, the second phase, respectively (80.32 ± 5.94), (45.02 ± 3.51), (6.85 ± 0.36), (7.34 ± 0.66) points. Two phase comparison difference was statistically significant (-47.070--21.551, P<0.05 or 0.01). Conclusions Based on the study of action with microscopic flap breast reconstruction after breast cancer case management care blueprint to build, implement the evaluation, plan, service, coordination and monitoring of health care management system, improve the patients′ life quality, standardize nursing process, improve the effect of nursing quality.

Purpose To detect the expression of NKX2. 2 protein in gastrointestinal, pancreatic and esophageal neuroendocrine tumors and the correlation between the expression of NKX2. 2 and the clinicopathologic parameters. Methods 41 cases of gastrointestinal, pancreatic and esophageal neuroendocrine tumors were collected. The expression of NKX2. 2, Syn and CgA in neuroendocrine tumor samples were checked by using immunohistochemical staining. Results The positive expression of NKX2. 2 protein was localized in the nucleus. NKX2. 2 protein showed positive staining in neuroendocrine tumors of the seven original sites. In the four cases of normal pancreatic islet cells also showed strongly diffuse positive nuclear staining. The positive rates of NKX2. 2, Syn and CgA protein in the small intestine, rectum, pancreatic neuroendocrine tumors were 100%, 100% and 46. 7%, respectively. The positive rates of NKX2. 2 in foregut, midgut and hindgut were 30% and 87% (χ2 = 11. 09, P=0. 001). Positive NKX2. 2 protein expression was not associated with gender, age group, grade, tumor size and lymph node metastasis. Conclusion NKX2. 2, as a new type of neuroendo-crine markers, is obviously superior to CgA in the diagnosis of neuroendocrine tumors in the small bowel, rectum and pancreas. NKX2. 2, Syn and CgA, a panel approach may be beneficial to enhance diagnostic accuracy of the neuroendocrine tumors.

Objective Primitive neuroectodermal tumor (PNET) is a rare malignant small round cell tumor .This paper aimed to study the clinical and pathological features of primary pulmonary primitive neuroectodermal tumor . Methods We collected 2 cases of primary pulmonary PNET to review the clinical and pathological features .Immunohistochemical staining was used to detect immune mark-ers, and fluorescence in situ hybridization (FISH) was applied to detect EWS translocation. Results 2 patients were aged 33 years and 17 years.Microscopically, the tumor cell was composed of single small round cells in diffusion or in distribution of sheets or beams , with scant cytoplasm , oval or spindle-shaped nucleus , high mitotic count .Irregular tumor necrosis scattered in the tumor along with visi-ble rosette structure.Immunohistochemical study showed that the tumor cells were positive for CD 99, FLI-1 and Syn, while CKpan, EMA, Desmin, CgA, TTF1, CD34 were negative.EWS/FLI1 translocations were detected positive in both the cases .2 patients died 7 months and 32 months after operation , respectively . Conclusion Primary pulmonary PNET is rare , so the selection of appropriate im-mune markers (CD99, FLI-1, Syn) and FISH for the detection of EWS translocation helps to improve the accuracy of diagnosis .

Objective To observe the protective effect of sodium hyaluronate (Na-HA),and its effects on mRNA expression of peroxisome proliferators-activated receptor gamma (PPAR-γ) in cartilage of rabbit osteoarthritis (OA) model.Methods Forty eight white rabbits were divided into A,B,C groups randomly.Group A were normal controls,groups B and C were underwent unilateral anterior cruciate ligament transection (ACLT).The rabbits in group B were injected normal saline after ACLT;Group C rabbits received intra-articular 1% sodium hyaluronate (HA) injections 5 weeks after surgery,0.3 ml once a week.At week 11 after the surgery,all rabbits were sacrificed.The cartilage changes on the medial femoral condyles were graded.Cartilage sections were stained with safranin-O and HE,mRNA expression of PPAR-γ was detected by real time polymerase chain reaction (Real Time-PCR).Results Cartilage degeneration in group B was significantly more severe than in groups A and C.The grey value of Safranin-O of B group were higher than groups A and C.Expression of PPAR-γ mRNA in group B was higher than that in groups A and C.Conclusion NaHA has a protective effect on articular cartilage degeneration,and the inhibitory effect on PPAR-γ mRNA expression may be one of the therapeutic mechanism of Na-HA.

Abstract BACKGROUND: Sodium hyaluronate is an effective treatment for osteoarthritis, but the underlying mechanism remains unclear. There is evidence that abnormal expressions of matrix metaloproteinase (MMP)-1, -3 and -9 and tissue inhibitor of metaloproteinase (TIMP)-1 and -2 show great effects on osteoarthritis. OBJECTIVE: To assess the influence of intra-articular injection of sodium hyaluronate on expressions of MMPs-1, 3, 9 and tissue inhibitor of TIMPs-1, 2 in the rabbit cartilage after osteoarthritis. METHODS: Twenty-four mature New Zealand white rabbits were divided into normal control, model, and sodium hyaluronate groups. The model and sodium hyaluronate groups underwent unilateral anterior cruciate ligament transection, and rabbits in the sodium hyaluronate group received 0.3 mL of 1% sodium hyaluronate via intra-articular injection at 4 weeks after modeling, once a week for 5 weeks. At 11 weeks folowing surgery, the rabbits were kiled and the cartilage was harvested to extract total RNA. mRNA expressions of MMPs-1, 3, 9 and TIMPs-1, 2 in the cartilage were analyzed using real-time PCR for each group. RESULTS AND CONCLUSION:Compared with the model group, the range and extent of cartilage damage was reduced in the sodium hyaluronate group (P < 0.01), and Mankin scores were noticeably decreased (P < 0.05). In the cartilage, mRNA expressions of MMPs-1, 3, 9 were enhanced and mRNA expressions of TIMPs-1, 2 were down-regulated in the model group. However, the mRNA expression levels of MMPs-1, 3, 9 and TIMPs-1, 2 in the articular cartilage were not obviously changed in the sodium hyaluronate group. These results suggest that MMPs-1, 3, 9 and TIMPs-1, 2 are involved in the progression of osteoarthritis and the therapeutic mechanism of sodium hyaluronate is not realized through the down-regulation of their expressions during development of osteoarthritis. Sodium hyaluronate for treatment of osteoarthritis is a complex process and the underlying mechanisms require further investigation.

Objective: To investigate the level of arsenic exposure in rural drinking water and to assess the health risk caused by exposure to arsenic in Tongzhou District, Beijing Municipality in 2019, so as to provide insights into improving the quality of rural drinking water. Methods: Water samples were collected from self-provided wells in 196 villages of 7 townships in Tongzhou District from April to June, 2019, and the arsenic levels were measured in drinking water according to Standard examination methods for drinking water-Metal parameters (GB/T 5750.6-2006). The carcinogenic and non-carcinogenic risks of arsenic were evaluated in drinking water using the environmental risk assessment model recommended by the United States Environmental Protection Agency (EPA). Results: Totally 520 water samples were collected, and the median arsenic concentration was 0.001 2-0.050 0 mg/L. There were 67 water samples with arsenic levels exceeding the defined standard level (12.88%), and the proportions of arsenic levels exceeding the defined standard level were 57.69%, 17.24%, 12.20%, 6.52% and 1.31% in Songzhuang, Huoxian, Lucheng, Zhangjiawan and Yongdedian townships, and the arsenic levels did not exceed the defined standard level in Majuqiao or Taihu townships. The carcinogenic risk of arsenic was 3.135 7×10-4/a in drinking water, which exceeded the maximum acceptable risk, and the carcinogenic risk of arsenic all exceeded the maximum acceptable risk, with the highest value seen in Songzhuang Township (9.648 2×10-4/a). A high carcinogenic risk of arsenic was seen in men at ages of 60 to 80 years (3.012 8×10-4/a) and in women at ages of 80 years and older (2.949 0×10-4/a). The non-carcinogenic risk of arsenic was 0.696 8 in drinking water, indicating a low risk, and were 1.009 5 and 2.144 1 in Huoxian and Songzhuang townships, indicating a high risk. In addition, a high non-carcinogenic risk of arsenic was seen in men at ages of 60 to 80 years (0.669 5) and in women at ages of 80 years and older (0.655 3). Conclusion There was a high proportion of arsenic levels exceeding the defined standard level in rural drinking water in Tongzhou District, 2019, and there was a health risk, notably with the highest carcinogenic risk seen in residents at ages of 60 years and older. Effective interventions are needed to reduce arsenic levels in drinking water.

Objective To observe the protection effect of ischemic preconditioning to small intestines injury after limbs ischemia reperfusion ,and investigate the role of nitrogen monoxidum in the process .Methods 52 male Wistar rats were randomly divided in-to Sham group ,limbs ischemia-reperfusion (IR) group ,IPC + IR group and Nω-nitro-L-arginine methylester (L-NAME) group . The value of diamine oxidase (DAO) and nitrogen monoxidum (NO) in plasma and gut tissue ,the content of fluorescein isothiocya-nate lipopolysaccharide (FITC-LPS) in plasma ,and the value of cyclic guanosine monophosphate (cGMP) and malondialehyde (MDA) in gut tissue were measured ,respectively .The expression of P-selection and Caspase-3 were measured by immunohisto-chemistry .The apoptosis of intestinal cells was detected by terminal deoxynucleotidyl transferase -mediated dUTP nick end labe-ling (TUNEL) and the results were analysed quantitatively by automatic image analytical system .Results Compared with the LIR group ,the values of DAO and FITC-LPS in plasma decreased obviously in the IPC group ,and the level of NO in plasma increased obviously (P<0 .01) .The values of DAO ,NO and cGMP in gut tissue increased obviously ,the level of MDA and the expression of Caspase-3 and the apoptosis index (AI) were significantly decreased in IPC group (P<0 .01) .Compared with the IPC group ,the value of DAO and FITC-LPS were higher and the level of NO was lower in plasma of the L-NAME group (P<0 .01) .The values of DAO ,NO and cGM P in gut tissue obviously decreased ,the level of MDA significantly increased ,and the expression of Caspase-3 and the AI significantly upregulated in L-NAME group than those in IPC group (P<0 .01) .Conclusion IPC can improve the small intestine injury and the apoptosis following hind limbs ischemia reperfusion which may correlated with the increase in the level of NO .