To report a case of fructose-1, 6-bisphosphatase deficiency child with delayed diagnosis for seven years, and review the literature. A 13-year-old boy presented with recurrent episodes of hypoglycemia after infection since 6 years old, he also had convulsion and short stature. The laboratory finding revealed ketotic hypoglycemia, lactic acidosis, transient elevated ALT and UA. The genetic analysis showed compound heterozygous mutations of c. 960-961insG and c. 355G> A in FBP1 gene. Among eighteen patients reported in China, 88.9% had convulsion, 16.7% had growth retardation, the average delayed diagnosis spent 2.8 years, which could result in permanent brain damage and high death risk. The most common mutation was c. 960-961insG, followed by c. 355G>A and c. 490G>A, these mutations maybe hot spot sites of FBPl gene in China.

Objective To explore the risk factors of urolithiasis incidence of migrant workers in Zhongshan,in order to provide the scientific evidence for preventing urolithiasis.Methods 1 630 workshop migrant workers and 1630 office white collar workers were selected as the subjects of this study.The questionnaire was conducted according to the age,gender,genetic factors,occupation,past illness factors,living environment,work environment factors,diet habit,the habit of drinking water survey,B ultrasound examination,the detection of blood uric acid.Results The incidence rate of urolithiasis was 6.53％,the incidence rate of workshop migrant workers was 8.28％,which was significantly higher than that of white collar 4.72％ (x2 =16.972,P ＜0.01).Conclusion Work environment,eating habits,drinking habits,smoking and sweating are related risk factors of urolithiasis.

OBJECTIVE To investigate the protective effect of total saponins from stems and leaves of Panax ginseng (GSLS) on cisplatin (CDDP)-induced kidney damage in mice and its possible mechanism. METHODS Thirty-two male ICR mice were randomly divided into normal control group, CDDP group, and GSLS(150 and 300)+CDDP groups. GSLS was administered to mice by oral gavage once a day for 7 d. On the 7th day, a single injection of CDDP 20 mg·kg-1 was given 1 h after GSLS 150 and 300 mg·kg-1 before GSLS 150 and 300 mg·kg-1 continued to be given for 3 d. Blood urea nitrogen (BUN) and creatinine (CRE) , catalase (CAT) in renal tissue, reduced glutathione (GSH), tumor necrosis factorα(TNF-α) and interleukin 1β(IL-1β) of cisplatin induced mice were detected after 72 h. HE and PAS staining were used to observe the renal histopathological changes;While TUNEL and Hoechst33258 staining were employed to observe apoptosis in kidney tissues. RESULTS Compared with normal control group, CDDP group had a significant reduction in relative body mass (P<0.05), and the level of GSH and CAT in kidney tissues (P<0.05). The level of CRE, BUN, TNF-α, and IL-1βin serum and renal indexes significantly increased (P<0.05, P<0.01), especially BUN and CRE that respectively doubled and quadrupled. CDDP group developed glomerulus swelling, renal tubular expansion and epithelial cell necrosis. Trans?parent tube type of tube cavity appeared, the nucleus pycnosis disappeared, but renal interstitial edema and inflammatory cell infiltration appeared. There was a large amount of glycogen deposition and high expressions of TUNEL positive cells and Hoechst33258 positive cells. Compared with CDDP group, the levels of BUN and CRE in GSLS treatment group significantly decreased (P<0.05, P<0.01) in serum, glycogen deposition was reducted and apoptosis of renal tubular epithelial cells decreased in kidney tissues (P<0.05). The level of TNF-α, IL-1β(P<0.05) and the degree of renal tissue necrosis were significantly reduced (P<0.05) in CDDP+GSLS 300 group, but there was a significant increase in the level of CAT and GSH (P<0.05). CONCLUSION GSLS can protect against mouse kidney injury induced by cisplatin. The mechanism may be related to oxidation, reduced inflammation reaction and resistance to apoptosis.

Objective To investigate the types,antimicrobial resistance,and disinfectant resistance of pathogens isolated from hospital environmental inanimate surfaces and hands of health care workers (HCWs).Methods Pathogens isolated from hospital environmental inanimate surfaces and hands of HCWs in intensive care units and general wards in 16 hospitals in Beijing were performed bacterial identification,antimicrobial susceptibility testing,and disinfectant re-sistance testing. The carriage of antimicrobial resistance genes and disinfectant genes in pathogens were also detec-ted.Results A total of 979 specimens were collected from inanimate surfaces and hands of HCWs in 16 hospitals,75 (7.66% )pathogenic strains were isolated,78.67% of which were gram-negative bacilli. The top 3 pathogens were Pseud-omonasaeruginosa (P.aeruginosa,n= 24),Enterobactercloacae (E. cloacae,n= 14),and Klebsiella pneumoniae (K. pneumoniae,n= 4 ). One P. aeruginosa strain was resistant to aztreonam,gentamycin,tobramycin,ciprofloxacin,and levofloxacin;One E. cloacae strain was resistant to piperacillin,7 strains were resistant to nitrofurantoin;4 K. pneumoni-ae strains were all resistant to piperacillin,2 were resistant to cephalosporins,and 1 was resistant meropenem. P. aerugi-nosahad7drug-resistantgenes,positiverateofmirwas100.00% ;E.cloacaehad4drug-resistantgenes,positiveratesof tem 1and shv were both 100.00% ;K. pneumoniae had 5 drug-resistant genes,positive rates of shv and mir were both 100.00% . The resistant rates of P. aeruginosa and E. cloacae to chlorhexidine gluconate were 4.17% and 57.14% re-spectively,to trichloroisocyanuric acid were both 50.00% ,positive rates of drug-resistant genes (qacE△1-sul 1)were 79. 17% and 57.14% respectively;K. pneumoniae had no resistance to two kinds of disinfectant,dug-resistance gene was not found.Conclusion Multiple common pathogens which can cause healthcare-associated infection exist in hospital environ-mental inanimate surfaces and hands of HCWs,which are dominated by gram-negative bacilli,pathogens had resistance to antimicrobial agents and disinfectant in different degrees.

Objective To analyze the effects of five proteins secreted by Chlamydia trachomatis on the phagocytosis of macrophages and dendritic cells derived from bone marrow cells of C3H/HeJ mice. Methods Glutathione S-transferase ( GST)-CT311, GST-GIgA, GST-cHtrA, GST-OmcBc and GST-Pgp3 proteins were prepared through an Escherichia coli prokaryotic expression system and purified by GST Mag-Beads. Chlamydia membrane protein GST-IncA was also prepared as a control. Proteins of interest were ob-tained by cleaving off GST-tag with PreScission protease. Macrophages (MΦ) and dendritic cells (DC) were prepared from bone marrow cells of C3H/HeJ mice and pretreated with either 100 μg/ml or 500 μg/ml of the above proteins. LPS was used as a control to testify the specificity of the proteins' functions. Four hours after pretreatment,fluorescent beads were added to culture media to evaluate the changes in phagocytosis with direct immunofluorescence assay. Results LPS and low concentration (100 μg/ml) of these proteins had no significant influence on the phagocytosis of DC and MΦ,while high concentration (500 μg/ml) of Pgp3, cHtrA and CT311 could significantly promote the phagocytosis of DC and MΦ. Conclusion Pgp3, cHtrA and CT311 can promote the in vitro phagocytosis of DC and MΦ,which may facilitate the in vivo dissemina-tion of Chlamyida trachomatis.

OBJECTIVE: To explore the genetic basis for a juvenile with maturity-onset diabetes of the young type 12(MODY12). METHODS: High-throughput sequencing was carried out to screen for the variants. Candidate variant was verified by Sanger sequencing. Pathogenity of the variant was predicted by searching the genetic databases and analysis by using bioinformatic software. RESULTS: Genetic testing indicated that the patient and his mother have both carried a heterozygous c.3976G>A variant (p.Glu1326Lys) in exon 32 of the ABCC8 gene. Prediction of the protein structure suggested the variant to be deleterious. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be uncertain significance. CONCLUSION Whether the c.3976G>A variant of the ABCC8 gene is the cause of the disease in this patient or not depends on the functional studies and more case data. Above finding has enriched the spectrum of ABCC8 gene variants.
Diabetes Mellitus, Type 2/genetics* ; Genetic Testing ; Genomics ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation

Objective: To investigate the clinical significance of tumor associated macrophages (TAM) in multiple myeloma (MM) and the relationship with angiogenesis and immunosuppression. Methods: Seventy cases of MM patients diagnosed from August 2015 to June 2017 were enrolled in the study as experimental group, 20 cases of benign hematological diseases (13 with iron deficiency anemia and 7 with megaloblastic anemia) patients as control group. Immunohistochemical method was used to detect the expression of CD163, CD34 and VEGF in bone marrow samples, and flow cytometry was used to detect the proportion of regulatory T cell (Treg cells), ELISA was used to detect the level of IL-10, and the clinical features were analyzed. Results: ①Among the 70 patients, there were 31 males and 39 females with a median age of 65 (50~78) years old. TAM infiltration density, microvascular density (MVD), VEGF expression level, Treg ratio and IL-10 level in bone marrow samples of 70 MM patients were significantly higher than those of benign hematological diseases (P<0.05). ②In the MM group, the above indexes of the patients with disease stabilized (15 cases) were lower than those of the newly diagnosed group (35 cases) and the relapse refractory group (20 cases) (P<0.05), those of relapse refractory group were higher than those of newly diagnosed group (P>0.05). ③Of the 35 newly diagnosed MM patients, 27 completed 4 courses of treatment. In the effective group (15 cases), the TAM infiltration density after treatment was significantly lower than that before treatment, the difference was statistically significant[(20.20±7.66) vs (28.87±11.97), t=2.362, P=0.025]; while in the ineffective group of 12 cases, the difference of the TAM infiltration density before and after treatment was not statistically significant[(42.00±13.76) vs (48.25±13.59), t=1.119, P=0.275]. ④TAM infiltration density in the effective group after bortezomib treatment (21 cases) were lower than those in the non-bortezomib treatment group (18 cases)[(16.52 ±4.26) vs (19.27 ±5.82), t=1.662, P=0.170]. ⑤The TAM infiltration density in MM patients was positively correlated with MVD, VEGF expression level, Treg cell ratio and IL-10 level (P<0.001). Conclusion The infiltration of TAM in the microenvironment of MM, which may promoting angiogenesis and inhibiting immune response, is related to the occurrence, development, therapeutic effect and drug resistance of MM.

Objective To investigate the value of cerebral state index (CSI) in monitoring the consciousness state of patients with brain trauma.Methods The consciousness sates of 218 patients with craniocerebral trauma were assessed by three experienced specialists by Glasgow Coma Scale (GCS),and the CSI of the patients were measured by Cerebral State Monitor.Correlation between GCS and CSI as well as the distribution of CSI in various consciousness defined by GCS were discussed.The predictive value of CSI in discriminating different conscious states of the patients was also analyzed.Results The Cochran Q test showed that there was a consistency of the GCS judged by three specialists (P ＞ 0.05),and the CSI of the patients was positively correlated with the GCS (r=0.819,P＜0.001).A gradual decrease in the CSI was found across categories of the various consciousness states,including sobriety,somnolence,confusion,light coma,coma in moderate depth and deep coma.The receiver operating characteristic curve (ROC) analysis showed that CSI could significantly discriminate the different consciousness states of the patients (P ＜0.001).The area under the curve (AUC) for the consciousness was 0.995 for deep coma,0.984 for sobriety,0.815 for coma in moderate depth,0.769 for somnolence,0.768 for light coma and 0.695 for confusion,respectively.Conclusion CSI can be used to monitor the severity of craniocerebral trauma.

Objective To investigate the value of cerebral state index (CSI) in monitoring the consciousness state of patients with brain trauma.Methods The consciousness sates of 218 patients with craniocerebral trauma were assessed by three experienced specialists by Glasgow Coma Scale (GCS),and the CSI of the patients were measured by Cerebral State Monitor.Correlation between GCS and CSI as well as the distribution of CSI in various consciousness defined by GCS were discussed.The predictive value of CSI in discriminating different conscious states of the patients was also analyzed.Results The Cochran Q test showed that there was a consistency of the GCS judged by three specialists (P ＞ 0.05),and the CSI of the patients was positively correlated with the GCS (r=0.819,P＜0.001).A gradual decrease in the CSI was found across categories of the various consciousness states,including sobriety,somnolence,confusion,light coma,coma in moderate depth and deep coma.The receiver operating characteristic curve (ROC) analysis showed that CSI could significantly discriminate the different consciousness states of the patients (P ＜0.001).The area under the curve (AUC) for the consciousness was 0.995 for deep coma,0.984 for sobriety,0.815 for coma in moderate depth,0.769 for somnolence,0.768 for light coma and 0.695 for confusion,respectively.Conclusion CSI can be used to monitor the severity of craniocerebral trauma.

Objective: To investigate clinical application of self-designed organ traction bag in male genital immobilization during radiotherapy. Methods: The male patients in the Department of Radiation Oncology, Suzhou Municipal Hospital from August 2018 to June 2019 were immobilized by using organ traction bag. Clinical effect was evaluated by subjective and objective ways which were the location relationship between contents and reference field under visual observation and fluoroscopy, and setup errors by CBCT images. Results: A total of 11 patients were selected, including 3 seminoma, 2 low rectal carcinoma, 2 prostatic carcinoma, 4 pelvic lymph nodes and bone metastases, with mean age 57.18 years old. Patients received 273 times of treatment and 55 times of CBCT verifications in all. Analysis results that the setup errors of the whole group in upper and lower (Vrt), head and foot (Lng), left and right (Lat) directions are less than 0.5 cm, within acceptable clinical threshold. The contents under visual observation and fluoroscopy were not in reference field and were fixed well. Conclusions Organ traction bag provides stable effect on male genital immobilization while taking patients’ privacy and clinical operability into account. It has high clinical application value in radiotherapy involving male genital protection.