Objective To establish the method of gene mutation screening for HME and investigate the relationship between genotype and clinical phenotype in HME patients. Methods Fifteen cases of HME probands were divided into the following four subgroups: mild (M) and severe ( Ⅰ S, Ⅱ S, Ⅲ S) according to the clinical diagnosis. DNA samples were obtained from the probands and family members. All of the EXT1 and EXT2 gene exons and their boundary sequences were amplified by PCR, and sequenced by directsequencing. Then the relationship between the genotypes and clinical phenotype was analyzed. Results Among the fifteen cases of HME probands, nine harbored EXT1 gene mutation, while the other 6 were positive for EXT2 gene mutation. Moreover, six novel mutations in EXT1 gene, including I8 + 2T ＞ G, c. 1182delG,c. 1108G ＞T(p. E370X) ,c. 335delA,c. 361C ＞T(p. Q121X) and c. 1879_1881delCAC were identified. In 9 patients with EXT1 gene mutation, 2 (22. 2% ) were M-type, 2 (22. 2% ) were Ⅰ S -type, 4 (44. 4% )were Ⅱ S-type,and 1 ( 11.1% ) was ⅢS-type. Whereas, 5 cases (83.3%) were M-type and only one case was Ⅱ S-type( 16. 7% ) in 6 patients with EXT2 gene mutation. Conclusions An accurate and simple gene diagnostic method for HME was established. Six novel EXT1 gene mutations, including I8 + 2T ＞ G,c. 1182delG, c. 1108G ＞T(p. E370X), c. 335delA, c. 361C ＞T(p. Q121X)and c. 1879_1881delCAC were identified as well. The clinical phenotype of the patients with EXT1 gene mutation was more severe compared to those with EXT2 gene mutations.

Objective To investigate radiation-related human plasma metabolic features by using metabonomics method and to analyze relative metabolic pathway .Methods The plasma samples of 40 patients pre-and post-total body irradiation (TBI) from January 2012 to May 2014 were collected, and the effect of TBI on human plasma metabolites was studied by gas chromatography mass spectrometry ( GC-MS) , and the differential plasma metabolic features related to irradiation damage were screened . Results The levels of glucose, myristic acid, oxalic acid, 3-hydroxy butyric acid, urea, aspartic acid, valine, leucine, lysine and threonine in plasma were significantly (P<0.05) increased after TBI, while the levels of cholesterol, pyruvic acid, propionic acid, lactic acid, alanine, glycine, inositol, sorbitan, ethylene glycol and hypoxanthine were decreased drastically (P<0.05).Conclusions TBI could cause significant changes in the levels of human plasma metabolites including amino acid metabolism , glucose metabolism, lipid metabolism and so on.

Objective To investigate the changes of serum trace elements and nutritional proteins in children with acute lymphoblastic leukemia and acute myeloid leukemia at the stage of onset. Methods Serum levels of cuprum, zinc, iron, magnesium, phosphorus, calcium, ceruloplasmin, ferritin, transferrin, lactate dehydrogenase, total protein, albumin, hemoglobin, and erythrocytes were detected in 73 patients with acute lymphoblastic leukemia, 26 patients with acute myeloid leukemia at stages of onset, and 30 healthy controls using methods including atomic absorption spectrometry, nophelometry assay, dry chemical method, and/or chemiluminescence method. The differences of these indicators among these three groups were analyzed by t test. Results Serum levels of all detected elements except for zinc and phosphorus were significantly different between the onset groups and the control group (P ＜ 0.05 ). Serum levels of cuprum, magnesium, iron, ferritin, ceruloplasmin, and lactate dehydrogenase in the onset groups were significantly higher than those in control group ( all P ＜ 0.05 ). On the contrary, calcium, transferrin, total protein, albumin, hemoglobin, and erythrocyte count were significantly lower in the onset groups than those in control group (P ＜ 0.05). Serum iron, cuprum, zinc, and their metabolism were significantly different between acute lymphoblastic leukemia group and acute myeloid leukemia group ( P ＜ 0.05 ).Conclusion　Serum levels of some trace elements and nutritional proteins are disordered and out of balance in chil dren with acute lymphoblastic leukemia and acute myeloid leukemia at stages of onset.

Objective To measure the organ weights , physiological and biochemical parameters and immune cells of NOD/SCID mice.Methods Mice at five and ten weeks of age were selected .The organ weights, blood physiological and biochemical parameters were observed .The percentages of CD 3+, CD4+, CD8+, CD19+, B220+, NK1.1+, and CD11b+were checked by FCM in NOD/SCID mice at six week of age in terms of its T , B lymphocyte function and NK cell activity.Results Among the same sex group of NOD/SCID mice, the weights of kidney, liver, heart and lung, and the blood physiological indexes of RBC , HGB, HCT, MCV, MCH, RDW, and the blood biochemical indexes of TP , ALB, ALP, CHO, TBIL show significant difference between 5 and 10 weeks.At the same age, HCT, GLOB, A/G, CHO, TG, TBIL and the UN are significantly different between male and female NOD /SCID mice.NOD/SCID mice lack T cells (0.37 ±0.26)%、CD4+T cells (0.35 ±0.13)%、CD8 +T cells (0.47 ±0.10)%、CD19+B cells (0.13 ± 0.05)%、B220+B cells (1.20 ±0.44)%.The percentage of NK cells is (6.90 ±0.82)%, and the percentage of granulocytes is (47.88 ±15.54)%.Conclusions The study indicates that NOD/SCID mice show the deficiency of T , B and NK cells function .The organ weights , blood physiological and biochemical parameters are affected by age and gender . The studied parameters of NOD/SCID mice are similar with the same strain in other countries .

Objective To investigate the clinical manifestation,therapeutic methods and treatmenteffectiveness of hand contracture due to extravasation injury from peripheral intravenous therapy in children.Methods Data of 6 children who had received treatment for hand contracture in our hospital from March 2004 to September 2011 were retrospectively analyzed.There were 3 boys and 3 girls,aged from 24 to 51 months (average,38 months).Two children underwent extensor tenolysis and dorsal capsular release at the metacarpophalangeal (MCP) joints.The other 4 children received conservative treatment,including physical therapy (ultrasound and medium frequency pulse) to reduce the hand swelling and peritendinous adhesion,active and passive functional exercise of digital joints and night splint protection.Results The MCP joint could be passively flexed to 90° intraoperatively in 2 children who underwent operation; however the contracture recurred at 2 months and 6 months after operation,respectively,and then the MCP joints were fixed at 0° position.For 4 children who received conservative treatment,although the active flexion of their MCP joints ranged from 30° to 45° during the rehabilitative procedure,recurrence of hand contracture was observed after the cessation of the rehabilitation in all children,and the range of active MCP joints flexion varied from 0° to 15°.Conclusion The mechanism underlying hand contracture due to extravasation injury from peripheral intravenous therapy remains elusive.Either simple conservative or surgical management results in poor functional outcomes.Combined therapy based on different indications for conservative and surgical management may improve the outcomes.

Objective:To evaluate the effectiveness of inspiratory muscle training in middle-aged and elderly patients with obstructive sleep apnea(OSA).Methods:The randomized controlled trials (RCT) on the effect of inspiratory muscle training in middle-aged and elderly patients with OSA were collected using the databases of PubMed, Embase, Cochrane Library, Web of Science, Chinese National Knowledge Infrastructure, Chinese Biomedical Literature Database and Wanfang database, the time was from the construction of the database to December 2020. The literature quality was evaluated and data were extracted from the included literature. RevMan5.3 software was used to analyze the collected data.Results:A total of 8 RCTs were included. Meta-analysis showed that inspiratory muscle training could reduce apnea hypopnea index(AHI)( P<0.05), Epworth Sleepiness Scale(ESS)( P<0.01) and Pittsburgh Sleep Quality Index(PQSI)( P<0.01), but had no effect on lowest oxygen saturation ( P>0.05). Conclusions:Inspiratory muscle training is a safe and feasible training method that can decrease AHI, ESS and PSQI in middle-aged and elderly patients with OSA.

Breast cancer is the most common cancer for Chinese women. Early screening is the best way to improve the rates of early diagnosis and early treatment of breast cancer. The peak ages of breast cancer in Chinese women are obviously different from those in the European and American countries. It is imperative to develop a guideline for breast cancer screening that is suitable for Chinese women. Based on the analysis and summary of breast cancer screening data in China, and the latest guidelines and consensus on breast cancer screening in Europe, the United States and East Asia, China Anti-Cancer Association and National Clinical Research Center for Cancer (Tianjin Medical University Cancer Institute and Hospital) has developed a population-based guideline for breast cancer screening in Chinese women. This guideline has provided detailed recommendations on the screening starting age, screening modalities, and screening interval in Chinese women with average risk and high risk of breast cancer, respectively. This article aims to interpret the above guideline, providing references for professionals in breast cancer screening.

OBJECTIVETo detect the expression of SCUBE3 in human osteosarcoma cell lines and surgical specimens of osteosarcomas and investigate its association with the patients' prognosis.

METHODSThe expression of SCUBE3 protein was detected in 5 osteosarcoma cell lines using Western blotting. CCK8 assay was used to assess the effect of SCUBE3 suppression mediated by two specific small interfering RNAs (siRNAs) on the proliferation of U2OS osteosarcoma cells, and the cell cycle changes were detected using flow cytometry. Immunohistochemistry was performed to detect the expression of SCUBE3 in 60 osteosarcoma tissues, and Kaplan-Meier method was performed for survival analysis of the patients.

RESULTSCompared with osteoblast hFOB1.19 cells, the osteosarcoma cell lines all showed significantly higher expressions of SCUBE3. In U2OS cells, suppression of SCUBE3 expression by siRNA significantly inhibited the cell proliferation (P<0.05). Kaplan-Meier survival analysis indicated that patients with high SCUBE3 expression had worse prognosis than those with low SCUBE3 expression (P=0.036).

CONCLUSIONSCUBE3 is up-regulated in the 5 osteosarcoma cell lines and in primary osteosarcoma tissues to promote the proliferation of osteosarcoma cells. A high SCUBE3 expression in osteosarcoma tissues is associated with a poor prognosis of the patients, suggesting that SCUBE3 can serve as a potential therapeutic target for osteosarcoma.

Bone Neoplasms ; metabolism ; pathology ; Calcium-Binding Proteins ; metabolism ; Cell Cycle ; Cell Line, Tumor ; Cell Proliferation ; Flow Cytometry ; Humans ; Immunohistochemistry ; Kaplan-Meier Estimate ; Osteosarcoma ; metabolism ; pathology ; Prognosis ; RNA, Small Interfering ; Up-Regulation

Objective:To evaluate the effectiveness of expiratory muscle training in patients with chronic obstructive pulmonary disease.Methods:The randomized controlled trials (RCT) and controlled clinical trials (CCT) on the effect of expiratory muscle training in patients with chronic obstructive pulmonary disease were collected using the databases of PubMed, Embase, Cochrane Library, CNKI, CBM and Wanfang, time is from the construction of the database to November 2019. The literature quality was evaluated and data were extracted from the included literature. Data were analyzed with Revman5.3 software.Results:A total of 8 RCTs and 1 CCT were included. The Meta-analysis showed that Mean difference and its 95% confidence interval of P Imax, P Emax, FEV1, 6MWD and SGRQ score were 0.58 (-1.34, 2.51), 8.11 (-2.64, 18.86), -0.12 (-0.22, -0.01), -16.47(-40.76, 7.82), -1.52 (-3.75, 0.70) (all P>0.05, except for FEV1, P=0.03). Conclusions:In the pulmonary rehabilitation program of COPD patients, EMT combined with IMT does not achieve better results than IMT alone, it is recommended that we can only use IMT instead of EMT combined with IMT, and the same training effect will be achieved with less time and cost.