Objective:To investigate the clinical characteristics and genetic mechanism of a patient with gout and hyperlipidemia.Methods:Clinical data of patient and his parents were collected in details, including their medical histories, physical examination results, and laboratory tests. DNA was extracted from the peripheral blood of the patient and their parents for whole exome sequencing. Protein function was predicted for new mutations.Results:The patient was a 22-year-old male with typical clinical manifestations of hypoglycemia, hyperuricemia, gout, and hyperlipidemia. c. 260delG(p.V88Ffs*13)frameshift mutation was detected in the second exon of the patient′s glucose-6-phosphatase(G6PC) gene, and c. 532C>G(p.P178A)missense mutation was detected in the fourth exon. The father and mother of the patient were heterozygotes carrying c. 260delG(p.V88Ffs*13)and c. 532C>G(p.P178A)mutations, respectively. Protein structure prediction showed that mutations were able to cause protein structure changes. The patient was diagnosed as glycogen storage disease type Ⅰa(GSD-Ⅰa)with secondary gout.Conclusions:The compound heterozygous mutation of G6PC gene is the pathogenic basis of this gout patient. The discovery of the new pathogenic mutation c. 260delG(p.V88Ffs*13)of the G6PC gene broadened the spectrum of pathogenic genes of GSD-Ⅰa and gout in Chinese patients.

Hypogonadotropic hypogonadism (HH) is a heterogeneous group of diseases with variable clinical manifestations.Currently,the primary treatment of HH is hormone replacement therapy,including testosterone replacement for induction of pubertal development and gonadotropin therapy or pulse GnRH administration for induction of spermatogenesis.

[Summary] Hyperuricemia is a syndrome caused by increased production or reduced excretion of uric acid which is characterized by oliguria, anuria, and uremia. Recent studies found that hyperuricemia was correlated with the risk, recurrence, metastasis, and prognosis of cancer. The mechanism may be uric acid associated chronic inflammation and decrease of xanthine oxidoreductase expression in cancer cells. Current treatment of hyperuricemia is to reduce the production of uric acid by inhibition of xanthine oxidoreductase, but the side effects of systemic inhibition of xanthine oxidoreductase received more and more attention. These unwanted side effects underscore the urgent need for mechanism based preclinical studies that can identify optimal strategies for management of hyperuricemia in relevant cancer models.

BACKGROUND:Treatment of complex tibial plateau fracture is a difficulty in orthopaedic trauma. Comprehensive assessment and appropriate surgical plan before surgery are the key points of surgery.
OBJECTIVE:To investigate the application value of three-dimensional reconstruction and virtual surgical techniques in assessing and surgical planning of complex tibial plateau fracture before surgery.
METHODS:The CT scan data of 30 patients with tibial plateau fracture were imported into the Mimics 13.0 software to establish the three-dimensional digital models of complex tibial plateau fracture, and three-dimensional measurements and reclassification was performed according to three-column classification were made. Virtual surgeries such as bone window operation, reduction of the fracture and bone grafting were made in these models.
RESULTS AND CONCLUSION:Reconstructed three-dimensional digital models of complex tibial plateau fracture could indicate the characteristics of fracture accurately, could be observed at any direction, and could help doctors to reclassify the fracture according to three-column classification. Virtual surgeries of bone window operation, reduction of the fracture and bone grafting made in computer by Mimics 13.0 were confirmed to be vividly simulate the clinical surgery, and helpful in estimating the amount of bone grafting. Three-dimensional reconstruction and virtual surgical techniques play an important role in assessing and surgical planning of complex tibial plateau fracture before surgery, which should be a conventional step in the management of complex tibial plateau fracture.

Objective To investigate the pathogenesis, distribution of the pathogens and resistance pattern of nosocomial pneumonia in patients with diseases of central nervous system(CNS).Methods Bacterial typing was conducted on the 59 strains separated from the sputum of 59 patients of nosocomial pneumonia with CNS diseases in our hospital in 2002.MIC drug sensitive test in vitro was conducted with the most common 15 antibiotics.Results The most common pathogens of nosocomial pneumonia in the diseases of CNS were:Staphylococcus aureus 23.7%,Pseudomonas aeruginosa 22.0%,Acinetobacter baumannii 18.6%,Klebsiella pneumoniae 8.5% Xanthomonas maltophilia 6.8%?According to the drug sensitive test,antimicrobial-resistant gram-negative bacilli were increasing.None of the vancomycin-resistant MRSA variant was seen.Conclusion The risk factors of nosocomial pneumonia in the diseases of CNS are long hospital stay,respiratory tract invasive operation and unreasonable antibiotic therapy.The most common pathogens were Staphylococcus aureus,Pseudomonas aeruginosa,Acinetobacter baumannii,Klebsiella pneumoniae and Xanthomonas maltophilia.Effective and infection-control procedures,surveillance systems and appropriate antimicrobial selection are key methods in limiting nosocomial pneumonia and antimicrobial-resistant pathogen occurrence.

In the 40 years of last centry American scientists put forward a concep of high intensity focused ultrasound (HIFU) therapeutic technique and had done some technical and clinical studies. Since 90 years the HIFU surgery technique treating tumors anew rised abruptly in the world. China firstly put out a comprehensive HIFU tumor treating sistem and successfully treated many solid tumors such as breast cancer, bone tumor, liver cancer etc.. Now the treating sistem has already exported to England, Italy,Spain, Japan, Colea etc. and treated tens thousands tumor patients. In the field of noninvasive ultrasound treating tumor technique China has continually kept the leading position in the world.

Objective To explore the correlation between glycosylated hemoglobin(HbA1c) level and hemoglobin(Hb),fasting blood glucose (FBG),two-hour postmeal blood glucose (PBG2h) levels in type 2 diabetic patients on plateau.To evaluate influencing factors of HbA1c and effects of Hb level on HbA1c and blood glucose levels.Methods A total of 101 type 2 diabetic patients with no change antidiabetic treatment above 3 months and living in Lijiang city(at altitude 2420 m) above 5 years were investigated.The mean value of FBG,PBG2h,HbA1c and Hb were determined.The correlation between HbA1c and Hb,FBG,PBG2h were studied by scatter diagram,Pearson correlation analysis and the regression analysis.HbA1c,FBG,PBG2h levels were compared between high hemoglobin group and normal hemoglobin group.Results The HbA1c level was positively correlated with the FBG (r =0.82,P ＜ 0.001) and the PBG2h (r =0.29,P =0.003) levels.The regression equation between HbA1c and FBG,PBG2h was Y =2.674 + 0.52X1 + 0.018X2.There was no correlation in HbA1c and Hb level(r =-0.06,P =0.551).There was no difference on HbA1c,FBG,PBG2h levels between high hemoglobin group and normal hemoglobin group (P ＞ 0.05).Conclusion The major influencing factors of HbAlc are FBG and PBG2h.The hemoglobin level has no obvious effects on HbA1c and blood glucose levels.

To provide a scientific basis for determining the health surveillance period of dust-exposed workers, data of a retrospective cohort study was re-analyzed with emphasis on natural course of silicosis. 33640 workers exposed to silica dust who were employed for at least 1 year from 1972 to 1974 in twenty Chinese mines or pottery factories were included as subjects, and were followed up till December 31, 1994. The cohort included subjects from 8 tungsten mines, 4 tin mines and 8 pottery factories. Our results showed that the mean latency of silicosis, for all the cases of the cohorts, was 22.9 +/- 9.8 y. 52.2 % of silicosis was diagnosed approximately 9.1 +/- 5.7 y after the dust exposure had ceased. The progression rates of silicosis from stage I to II and from stage II to III were 48.2 % and 18.5 %, and the duration was 4.1 +/- 0.2 and 6.8 +/- 0.2 y, respectively. The survival times of silicosis stage I , II and III, from the year of diagnosis to death, were 21.5, 15.8 and 6.8 years, respectively. There was 25 % of the silicosis patients whose survival time was beyond 33 y. The mean death age of all silicosis cases was 56.0 y. The death age increased to 65.6 y in the middle of 1990s. Among dust-exposed workers, subjects who became suspected case (0+ ) accounted for 15.0 %. 48.7 % of the suspected silicosis cases developed to silicosis, and the average year from the time of being suspected of the disease to the first stage of silicosis was 5.1 y. The natural characteristics, as mentioned above, varied with different mines and factories. We are led to conclude that silicosis is chronic in nature, but progress quickly. As a serious occupational disease it significantly reduces the life span of exposed workers. The study of its natural history is of importance for the development of health surveillance criteria for dust-exposed workers.

BACKGROUND:With the development of surgical techniques and reconstruction material technology, joint replacement has also been widely used in the dislocation of the shoulder;especial y al kinds of custom-made or assembled prosthesis make replacement indications improved evidently. OBJECTIVE:To investigate the long-term effects of arthroscopy or arthroplasty for treating recurrent anterior dislocation of the shoulder joint with severe bone defects. METHODS:144 patients with recurrent anterior dislocation of the shoulder joint with severe bone defects were enrol ed in this study. They were divided into treatment group and control group based on a random drawing (n=72). The control group was given arthroscopic surgery, and the treatment group was subjected to arthroplasty. The 3 years of fol owed-up were done by telephone investigation and further consultation. Neer shoulder score, shoulder activity and complications were recorded.
RESULTS AND CONCLUSION:After 3-year fol owed-up, the excel ent and good rate of shoulder function was significantly higher in the treatment group (90%) than in the control group (81%) (P<0.05). The magnitude of the flexion in the 3-year fol owed-up was apparently increased, while the lateral margin external rotation was decreased, which showed significant differences after intragroup comparison (P<0.05). Simultaneously, the magnitude of the flexion and the lateral margin external rotation in the treatment group had statistical y significant differences compared to the control group in the 3-year fol owed-up (P<0.05). The complications of wound infection, shoulder dislocation, and implant loosening in the treatment group during fol ow-up were significantly lower than in the control group (P<0.05). These findings verified that compared with arthroscopic surgery, arthroplasty for treating recurrent anterior dislocation of the shoulder joint with severe bone defects in long-term fol ow-up can effectively restore shoulder function and range of motion, and it has few complications, thereby effectively rebuilds shoulder joint.

BACKGROUND:Traditionaly, non-surgical treatment was used to treat degenerative femoral intercondylar fossa impingement syndrome, but it can cause function loss of cruciate ligament, or knee instability. With the development of medical technology, more and more views believed that ligament damage and combined with other knee structural damage should receive surgery as soon as possible.
OBJECTIVE: To investigate the repair effect of knee arthroplasty for treating degenerative femoral intercondylar fossa impingement syndrome, and compare with AO cannulated screw fixation.
METHODS:A total of 72 patients with degenerative femoral intercondylar fossa impingement syndrome were equaly and randomly divided into treatment group and control group. Patients in the control group were treated with open AO cannulated screw fixation, and patients in the treatment group were subjected to knee arthroplasty. At 7 days after treatment, repair effect was evaluated. Before treatment and 7 days after treatment, knee function was assessed by using Lysholm knee Scoring Scale and the international knee documentation committee knee evaluation form. Al patients were folowed up for 6 months after treatment to investigate the occurrence of complications.
RESULTS AND CONCLUSION:The surgery was successfuly completed in al patients. At 7 days after treatment, the excelent and good rate was 94% in the treatment group and 75% in the control group. The excelent and good rate was significantly higher in the treatment group than in the control group (P < 0.05). Lysholm scores were significantly greater, but the international knee documentation committee knee evaluation form scores were significantly lower at 7 days after treatment compared with that before treatment in the treatment group (P < 0.05). Simultaneously, Lysholm scores and the international knee documentation committee knee evaluation form scores were significantly better in the treatment group than in the control group at 7 days after treatment (P < 0.05). During 6-month folow-up, wound infection, intra-articular infection, joint pain, and deep vein thrombosis were significantly less in the treatment group than in the control group (P < 0.05). These findings indicate that knee arthroplasty for degenerative femoral intercondylar fossa impingement syndrome can improve short-term efficacy, effectively restore knee function and reduce the incidence of postoperative complications.