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.

Objective To investigate the effect of Musk Hemorrhoids Ointment Combined with psychological intervention in patients with perianal eczema and the effect on the quality of life of patients. Methods 70 patients with perianal eczema were randomly divided into control group (n=35) and observation group (n=35). The control group using triamicinolone acetonide acetate and miconazole nitrate neomycin sulfate cream with the treatment, the observation group with musk hemorrhoids ointment combined with psychological intervention treatment by SF-36 life quality scale of two groups before and after treatment to assess the quality of life, compared 2 groups of clinical curative effect and influence on the quality of life of patients. Results The observation group after treatment itching, exudation and lesion area and the symptoms and signs improved time shorter than the control group (P<0.05); quality of life score of SF-36 in observation group after treatment were higher than those in control group (P<0.05); the observation group after 2 weeks of treatment, the clinical efficiency and control group had significant difference (P<0.05). Conclusion Patients with perianal eczema with musk hemorrhoids ointment combined with psychological intervention treatment effect is ideal, it is worthy of popularization and application.

Objective: To make a retrospective control study of the curative effects of Four sacral needles method and conventional acupuncture therapy on female stress incontinence. Methods:A treatment group was treated by Four sacral needles method, in which four sacral points were electroacupunctured with special insertion of needles to excite the pudendal nerve and induce the rhythmic contraction of the pelvic floor muscles, thereby increasing the strength of the pelvic floor muscles and improving ability in urinary continence. A control group was treated by conventional acupuncture therapy, in which corresponding points were acupunctured according to syndrome-based classification. Results: In the 31 cases of the treatment group treated by Four sacral needlesmethod, 100% symptom improvement occurred in 22(71.0% )after an average of 21 treatments (3-63treatments). In the 34 cases of the control group treated by conventional acupuncture therapy, 100%symptom improvement occurred in 0 after 30 treatments. The curative effect was better in the treatment group than in the control group(p＜ 0.01).The curative effect improved with an increase in the number of treatments in the treatment group. Conclusion: Four sacral needles method is more effective than conventional acupuncture therapy in treating female stress incontinence.

Objective To explore the value of diagnostic and differential diagnostic with the Neutrophil‐lymphocyte count ratio (NLCR) and C‐reactive protein cmmunity‐acquired pneumonia(CAP) .Methods The NLCR ,as well as white blood cell counts , neutrophil count ,lymphocyte count and the concentration of CRP were measured in 40 patients with bacterial pneumonia ,40 pa‐tients with mycoplasma pneumonia ,40 patients with viral pneumonia and 40 healthy subjects ,and the results was analyzed by statis‐tical methods .Results In bacterial group ,the NLCR and the concentration of CRP were significantly higher than those in myco‐plasma group ,viral group and normal controls(P<0 .05) .According to the results of ROC curve analysis in the diagnosis of bacte‐rial CAP ,the areas of NLCR and CRP under ROC curve are 0 .911 and 0 .896 ,respectively ,which have good diagnostic sensitivity and specificity .Conclusion The NLCR and CRP in peripheral blood have great significance in diagnosis and differential diagnosis of bacterial community‐acquired pneumonia .

Objective To compare the differences of temperature results between mercury thermometer and infrared thermometer. Methods The temperature of three parts was recorded respectively by mercury thermometer in axilla and infrared thermometer in forehead and earlobe on the same patient, totally 98 patients were recorded in ICU. Results There was statistical difference of three parts' temperature in 98 cases. It could be assumed that axilla temperature ＞ earlobe temperature ＞ forehead temperature;There was no statistical difference of three parts' temperature in 17 cases with temperature 38.0～38.9 ℃ by mercury thermometer, but the difference had clinical significance. It could be assumed that axilla temperature ＞ earlobe temperature ＞ forehead temperature; There was statistical difference of three parts' temperature in 30 cases with temperature at 37.0～37.9 ℃ by mercury thermometer. It could be assumed that axilla temperature ＞ earlobe temperature ＞ forehead temperature. There was no statistical difference of three parts'temperature in 51 cases with temperature at 35.0～36.9 ℃ by mercury thermometer. Conclusions Temperature of the patients with normal axilla temperature could be monitored by infrared thermometer instead of mercury thermometer,but it is not applicable to the patients with fever.

Objective To study the effects of continuous subcutaneous insulin injection in treatment of type 2 diabetic patients with pulmonary infections. Methods 112 type 2 diabetic patients with pulmonary infections were randomly divided into group CSII and group MSII, and the bacteria, period of normalization of the blood glucose and cure of the pulmonary infections were obseroed. Results Blood glucose of all patients in two groups were reduced significantly. Significant diference was observed in the cure of the pulmonary infections, usage amount of insulin and morbidity of low blood glucose. Conclusion Type 2 diabetic patients with pulmonary infection mellitus were majorly infected by pathogenic G bacteria. CSII was able to control the blood ghcose better,reduce the hospital day and decrease the moroidity of low bleod glucose. CSII was a better of method.

Objective To investigate the occurrence,types and therapeutic effect of malignancies in renal allograft recipients. Methods A retrospective study of 1200 renal allograft transplantations in 1189 patients performed between July 1977 and September 2001 was carried out. Results After transplantation among the 1189 recipients,19 cases (an incidence rate of 1.6%) were diagnosed with malignancies,including hepatocarcinoma in 4 cases,breast cancer in 3,Kaposi sarcoma in 2,lung cancer in 2,and squamous carcinoma of bladder,non-Hodgkin lymphoma,stomach carcinoma,carcinoma of head of pancreas,carcinoma of gingival,colon carcinoma,gallbladder carcinoma each in 1,and 1 intensive metastasis case without concerned source.The mean postoperative duration of immunosuppressive treatment before the diagnosis of malignancies was (36.7?24.2)months (range,2 to 112 months).Surgical operations were performed in 12 cases,all of whom survived with normal renal function.A mean follow-up of 15.4 months (range,1 to 73 months) showed that no recurrent malignancy developed and no rejection of transplanted kidneys occurred.Five of the 7 cases who had malignancies at advanced stage and lost surgical treatment opportunity died within 1 year after the diagnosis. Conclusions The incidence of malignancy in renal allograft recipients is much higher than normal population,closely related to the long term use of immunosuppressants.Radical surgery of the malignancies is preferred option and use of immunosuppressants can be reduced or discontinued;meanwhile the function of the transplanted kidney should be maintained as much as possible.

Objective To discuss the applied research of CT perfusion imaging on the diagnosis of splenic diseases. Methods 20 patients with splenic diseases which accepted treatment in our hospital from January 2012 to December 2014 were assigned into group A,including 7 cases of splenic lymphoma patients(group A1),8 cases of leukemia patients with spleen infiltration(group A2)and 5 cases of splenic metastasis(group A3). At the same time,20 healthy persons were selected as the control(group B). Results The result of CT scan was normal in group B,but that showed a variety of lesions in the spleen in group A. The spleen perfusion volume in the group A was significantly higher than that in the control group(P<0.05). The detection rate of CT perfusion imaging was significantly higher than that of CT scan(P<0.05). TIP and MTT in group A were significantly higher than those in group B,while BF,PEI and BV were significantly lower(P<0.05). Conclusion CT perfusion imaging has advantage of simple,short imaging time,less trauma,and a high diagnostic value for the spleen disease,which is an ideal detection means and can be used in clinic.

ObjectiveTo evaluate the effects of simvastatin on patients with transient ischemic attack (TIA) following carotid atherosclerotic plaque.Methods96 cases of TIA patients with carotid atherosclerosis plaque were randomly divided into simvastatin (statins) group and control group, 48 cases in each group. The statins group took simvastatin except routine therapy for 6 months, while the control group took Xuezhikang. The ultrasonic examination of carotid artery intima-media thickness (IMT) and atherosclerosis area were carried out before and after treatment for both groups. The incident rates of cerebral vascular diseases within 6 months were compared between two groups.ResultsThe ultrasonic examination showed significantly thinning of carotid IMT and reducing of plaque area in statins group (P<0.05), while there wasn't significant difference in control group(P>0.05). The cerebral vascular incident rates in statins group were lower than in control group(P<0.05).ConclusionSimvastatin may be more effective for antiatherosclerotic function with bigger dosage and decrease ischemic cerebral vascular incidence.

Objective Carotid artery stenosis is closely related not only with the cognitive function impairment, but also can cause patients to physical fatigue and a series of consequences.The aim of this study was to investigate the correlation between carotid artery stenting for carotid artery stenosis in patients with cognitive function improvement effect and fatigue and cognitive function in this paper. Methods One hundred cases of clinical data of patients with carotid artery stenosis of carotid artery stentingwere analyze pro-spectively.The cognitive scales of mini mental state examination (mini mental scale state examination, MMSE), Montreal cognitive as-sessment(Montreal cognitive, assessment, MoCA), activities of daily living scale (activities of dailyliving, ADL), fast vocabulary test ( verbal fluency) , Webster's count test, digit span test( working memory) , Digit Symbol Substitution Test ( speed) and the the fatigue scales of fatigue assessment scale-14 ( Fatigue Scale-14, FS-14) , fatigue severity scale ( FatigueSeverity Scale, FSS-9) were observed before and 3, 6 months after surgery.The correlation between fatigue and cognitive impairment was also analyzed Results Operation was successful in all patients, and no serious complications occurred after surgery.Patients'clinical symptoms were significantly im-proved compared with those on admission.MMSE, MoCA, ADL, verbal fluency test, Wechsler arithmetic, digit span and digit symbol substitution test results showed that, the scores were significantly improved compared with those on admission( P<0.05) , and with the time prolonging, cognitive function improved more obviously( P<0.001) .Compared with before operation,FS-14 score [ ( 7.11±1.37) vs (4.38±0.97)] and FSS-9 scores were significantly decreased6 months after operation, [(52.45±6.77) vs (43.29±7.21)](P<0.05). The correlation coefficient of FS-14 and MMSE, FFS 9 and MMSE were -0.357, -0.311 6 months after surgery, and the correlation coefficientof FSS-14 and MoCA, FSS-9 and MoCA were -0.547,-0.351, which showed a significant negative correlation (P<0.05). Conclusion Carotid artery stenting therapy can improve cognitive function and fatigue in patients with carotid artery stenosis, and the effect was more significant with the time prolonging, and there was a certain correlation between fatigue and cognitive impairment.