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 establish the pediatric reference intervals for Troponin Ⅰ and Creatine kinase-MB (CK-MB).Methods Healthy children (223 boys and 162 girls) aged from 7 months to 12 years old were studied.Blood specimens were collected and centrifuged,all serum samples were kept refrigerated below-70 ℃.Troponin Ⅰ and CK-MB were measured on the UniCel DxI 800 immunoassay system (Beckman Coulter) on the same day.Nonparametric statistics was used to estimate the 99th percentile reference intervals.Results The children were divided into three groups (group A 128 cases; group B 128 cases;group C 129 cases) according to age.The upper reference limits for CK-MB were dependent of age,and the group A (7 months-1 years) was shown to be 13.41 μg/L,the group B (2-3 years) was shown to be 9.35 μg/L,the group C (4-12 years) was shown to be 5.48 μg/L.The upper reference limit for Troponin Ⅰ was independent of age or gender and shown to be 0.01 μg/L among 385 children.Conclusions Pediatric reference intervals for Troponin Ⅰ and CK-MB have been defined in healthy children at a relevant age group (7 months-12 years).It is effective for clinical diagnosis and treatment of myocardial damage for children by determining reference intervals for Troponin Ⅰ and CK-MB.

Objective To explore the optimal storage standard of fresh human milk, and to observe the influence of different cold storage condition (time-temperature) on macronutrients (fat, protein, carbohydrates, TS and energy), immune sub-stances (sIgA, lactoferrin, IL-6, 8, 10 and TNF-α) and bacteria indicators of fresh human milk.Methods Fresh milk samples (n=30) were divided and stored at three temperature and nine time points, which are 4℃ (24 h, 48 h, 72 h), -18℃(72 h, 7 d, 14 d, 4 w, 8 w, 12 w), and -80℃ (12 w, 24 w). At each time point, the macronutrients , immune substance, and bacteria colony counts of each milk sample were measured and compared with fresh milk. Results Compared with fresh milk, all indicators with the exception of lactoferrin in stored human milk showed signiifcant difference (P<0.05). Under 4℃ refrigeration condition, fat, IL-6, and TNF-α decreased, bacteria colony counts and Gram-positive colony counts increased over 72 h storage (P<0.05). Under-18℃ freezing condition, fat, protein, TS, energy and IL-6 decreased from 72 h to 12 w storage (P<0.05); carbohydrates and sIgA also decreased from 4 w and 8 w storage, respectively (P<0.05). Under -80℃ freezing condition, fat, protein, TS, energy and IL-6 decreased over 24 W storage (P<0.05).Conclusions The macronutrients, immune substance, and bacteria indicators of human milk were affected obviously by cold storage. Refrigerated at 4℃ should not be longer than 72 h, -80℃ freezing condition should be chosen for more than two months storage.

Objective To investigate the diagnostic value of serum ferritin in children with systemic onset juvenile idiopathic arthritis (SO-JIA). Methods Fifty-seven patients with fever of unknown origin (rectal temperature>38.5 ℃ ) over two weeks and hospitalized in our general medicine ward longer than one week were enrolled in this study. Patients were recorded the course of fever, elinieal symptoms and signs including rash and swollen joints/arthralgia, laboratory tests including complete blood cell count, C-reactive protein, erythroeyte sedimentation rate, lactate dehydrogenase and the level of serum ferritin. SPSS 10.0 was used for statistical analysis. Results Two of 57 patients could not be diagnosed before discharge. The other 55 patients whose diagnosis was confirmed were divided into four groups. Twenty-five patients were SO-JIA,12 patients had hematologic or oncological diseases, 12 patients had infectious diseases and 6 patients had other rheumatic diseases. The level of serum ferritin was significantly higher (P<0.01) in SO-JIA group than in other groups. Moreover, the levels of serum ferritin in SO-JIA group were all higher than normal and the levels of serum ferritin in 76% of SO-JIA group were more than five-fold elevation. Four cut-off levels of serum ferritin level for the diagnosis of SO-JIA were selected based on clinical practice and ROC curve. When the cut-off levels of serum ferritin were 328.25, 529.50, 731.05 ng/ml and 1121.10 ng/ml, the sensitivity for the diagnosis were 100%, 88%, 72%, and 64% respectively, the specificity were 77%, 87%, 90% and 100%,respectively. Conclusion Serum ferritin is valuable for the diagnosis of SO-JIA and 529.50 ng/ml may be a good cut-off level

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.

Androgen deprivation therapy (ADT) combined with abiraterone and prednisone.for metastatic hormone sensitive prostate cancer (mHSPC) is proved effective in many researches, but it is not verified in china. We present the case of a 62-year-old man who was referred to our hospital for high-risk mHSPC with the main symptoms of dysuria and weak stream. the level of prostate-specific antigen (PSA) was elevated, and the results of biopsy, magnetic resonance and PET-CT showed prostate cancer with multiple lymph node metastases to the right scapula and right pubic bone (T 3bN 1M 1b). The patients were treated with the combination of ADT plus abiraterone and prednisone. After treatment, the level of PSA and testosterone returned to normal and were well-controlled.

Breast cancer centers in European countries operate under a complete set of industry standards, which feature multi-disciplinary teamwork and offer " one package services" for patients, not only conducive to elevating treatment outcomes but also sizably downsizing the time consumption and expenditure of patients in seeking medical services. The authors systematically analyzed the basic standards, organizational structure, and management requirements for core team departments and doctors in breast cancer diagnosis and treatment centers in Europe, and came up with recommendations for the current situation and defects of breast cancer diagnosis and treatment in China.

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.

Objective To explore the management of the development of medical research.Methods This paper analyzes the construction mode and experience of the National Center for Clinical Medicine Research in promoting the transformation of medical research,and discusses the cooperation mechanism,talent construction,performance evaluation and institution construction.Results Based on proposed development stage medical institutions and resources,and gradually improve the "transformation chain" management thinking.Conclusions Medical institutions should rely on basic and clin ical resources,based on the concept of medical transformation,strengthen the top design,and gradually change the management model.