Objectives To investigate the clinical characteristics and diagnosis of Gaucher disease. Methods The clini-cal features, enzyme activities and genetypes of an infant with Gaucher disease II were analyzed. Results The main clinical manifestations of the infant included hepatosplenomegaly, ocular dyscinesia and mental retardation. Gaucher′s cells could be seen in the bone marrow aspirates. Glucocerebrosidase activity was low (0.3 nmol/g/min). Serum chitotriosidase activity was high (87317 nmol/L/min). GBA mutations were M85T (c.371T>C) and R120W (c.475C>T). Conlusions Main features of Gau-cher disease II are hepatosplenomegaly with nerve system injury. Glucocerebrosidase activity and gene analysis are important for the diagnosis of Gaucher disease.

Objective To retrospectively demonstrate risk factors for mortality in multiple trauma patients with acute respiratory distress syndrome(ARDS).Method This wes a retrospective cohort stuay regarding multi-ple trauma as a single cause for intensive care unit admission.Patients identified multiple trauma with ARDS en-rolled in prospectively maintained database between May 2003 and April 2008 were observed,and 23 items of po-tential risk factors of impacting mortality were calculated by univariate and multivariate logistic analyses in order to find distinctive items in these multiple trauma patients.Information on patients demographics characteristics,treat-ment procedures and injury severity were collected at the time of EICU admission.The criteria used for ARDS met definition of the guideline(2006)of Chinese medical association.The commonly accepted definition of multiple injuries was consistent with both several injury sites(generated from two or more than two anatomic sites)and in-jury in one anatomic site at least threatening life.Severity of injury was quantified by injury severity seore and the simplified acute physiology score and chronic health evaluation score (APACHE Ⅱ)in EICU admission.We in-cluded adult patients(age≥18 years),those with an EICU length of stay longer than 48 hours,and those accept-ing mechanical ventilation more than 24 hours.Patients who were readmitted to EICU by virtue of non-traffic injury or transferred to EICU from other hospitals after long-term treatment were excluded.Mortality was assessed at the 28th clay after trauma.Results There were 269 multiple trauma patients with posttranmatic ARDS admitted to ICU during the study period,the unadjusted odds ratio(OR)and 95% confidence intervals(CI)of mortality were associated with six risk factors(APACHE Ⅱ score,duration of tratuna factor,pulmonary contusion,aspiration of gastric contents,sepsis and duration of mechanical ventilation)out of 23 items.The adjusted Odds Ratios(ORs) with 95% CI were denoted with respect to surviving beyond 96 hours ICU admission(APACHE Ⅱ score,duration of trauma factor,aspiration of gastric contents),APACHE Ⅱ score beyond 20 ICU admission(duration of trauma factor,scpsis,duration of mechanical ventilation)and mechanical ventilation beyond 7 days ICU admission(dura-tion of trauma factor and sepsis).Conclusions Impact of pulmonary contusion and APACHE Ⅱ score contribut-ing to prediction of mortality may exist in prophase after multiple trauma.Sepsis is still a vital risk factor referring to systemic inflammatory response syndrome,infection,and secondary multiple organs dysthnetion.Aspiration of gastric contents could lead to incremental mortality due to scvere ventilation associated pneumonia.Duration of trauma factor determined degree of injury and outcomes,longer duration generally manifested higher mortality.Long-standing mechanical ventilation should be constrained on account of occurring severe refractory complications.

Objective To evaluate detection effect of three methods on monitoring microbes in dialysate and dialysis water for hemodialysis.Methods Seventy-two dialysate and dialysis water specimens were collected from 36 medical institutions,specimens were cultured with three methods: blood agar plate incubated at 35℃ for 72 hours,Tryptic soy agar(TSA)plate incubated at 35℃ for 72 hours,and Reasoner's 2A agar(R2A agar)plate incubated at 23℃ for 168 hours,colony counts,isolation of colony,and detection rate of colony exceeding action level(≥50 CFU/mL)were compared among three methods.Results The colony isolation rates of microbes in dialysate and dialysis water detected by blood agar plate,TSA plate and R2A plate were 40.28%,63.89%,and 69.44%respectively,difference was significant(x2=14.16,P<0.05);pairwise comparison showed that isolation rates of colony on R2A agar plate and TSA plate were higher than blood agar plate.There was significant difference in isolated colony count between blood agar plate and R2A agar plate,TSA plate and R2A agar plate respectively(Z=-4.515,-6.970 respectively,both P<0.05).The rates of isolated colony exceeding action level in dialysate and dialysis water detected by blood agar plate,TSA plate,and R2A agar plate were 1.39%,4.17%,and 20.83%respectively,difference was significant(x2=19.83,P<0.05),detection rate of R2A agar plate was higher than the other two methods.Conclusion The detection rate of colony by R2A agar plate and TSA plate are better than blood agar plate,detection rate of colony exceeding action level by R2A agar plate is higher than TSA plate and blood agar plate,R2A agar plate for microbial monitoring(23℃,168 h)on dialysate and dialysis water is superior to the other two methods.

BACKGROUND:Condylar fracture can occur under direct and indirect forces, and however, its risk and correlation with the impact site are rarely reported. OBJECTIVE:To quickly establish normal mandible three-dimensional finite element model and to analyze the strain conditions of the condyle under force at different parts of the mandible. METHODS: An adolescent volunteer was examined by multilayer spiral CT scans, whose mandible was normal and oral cavity was healthy. We used the reverse engineering software Mimics and large finite element software MSC.Patran to establish the three-dimensional finite element model of the mandible and to verify the feasibility of the model in the impact test at the body of the mandible, chin, mandibular angle and condyle. RESULTS AND CONCLUSION:A rapid establishment of mandible dimensional finite element biomechanical model could reproduce the morphology of the mandible, which was able to obtain the overal visual impression of the mandibular condyle. Geometric model included 80 044 nodes and 18 441 units. The mandibular chin, one side of the body, mandibular angle and condyle were given 100 N force respectively. The maximum equivalent stress of the bone cortex appeared in condylar region. So the mandibular condylar fractures were at the greatest risk. Experimental results contribute to mechanicaly analyze the condylar fracture type and to judge the severity of fractures.

Objective To explore the optimal acupuncture scheme in intervening hypermyotonia of the affected limbs in stroke.Method Eighty eligible stroke patients were randomly grouped by using the orthogonal experimental design, by adopting electroacupuncture (A), daily acupuncture frequency (B), and acupoint (C) as three factors, and two levels. A total of 20 treatment sessions were conducted. Each group was scored by using the Modified Ashworth Scale (MAS) before and after the treatment, and the safety was also evaluated.Result There was a significant difference in comparing the MAS score between the two different levels of factor A (P<0.05), while there were no significant differences in comparing the MAS scores between different levels of factor B and factor C (P<0.05). Concerning the improvement of the MAS scores of wrist, elbow, knee, and ankle joints, A2B1C1(i.e. electroacupuncture twice a day with acupoints from yin meridians) was the optimal treatment scheme.Conclusion Electroacupuncture twice a day is the optimal treatment scheme for hypermyotonia of the affected limbs in stroke, as it can effectively ease the hypermyotonia, improve the function and symptoms of the limbs, and has a satisfactory security evaluation.

ObjectiveTo investigate the clinical features and gene mutation characteristics of neonatal intrahepatic cholestasis caused citrin deficiency (NICCD) in northern China. MethodsA total of 23 pediatric patients in northern China who were diagnosed with NICCD by blood tandem mass spectrometry and/or gene detection in Department of Gastroenterology, Children’s Hospital Affiliated to Capital Institute of Pediatrics, from January 2015 to December 2018 were enrolled as NICCD group, and 36 pediatric patients with idiopathic neonatal cholestasis (INC) who had unclarified etiology after a series of examinations during the same period of time were enrolled as INC group. A retrospective analysis was performed for the clinical manifestation, laboratory examination, pathology, blood/urine metabolic screening, and gene sequencing results of the pediatric patients in the NICCD group, and follow-up was performed to observe their outcome; biochemical parameters were compared between the two groups. The independent samples t-test was used for comparison of normally distributed continuous data, and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data; the chi-square test was used for comparison of categorical data between groups. ResultsAmong the 23 patients in the NICCD group, 10 had hypoglycemia, 13 had hypoalbuminemia, 17 had hyperammonemia, and 15 had hyperlactacidemia; 15 had an increase in low-density lipoprotein, 6 had an increase in cholesterol, and 7 had an increase in triglyceride; 17 had prolonged prothrombin time, and 16 had prolonged activated partial thromboplastin time (APTT). Compared with the INC group, the NICCD group had significantly higher gamma-glutamyl transpeptidase (GGT), total bile acid (TBA), and APTT and a significantly lower albumin (Alb) level (Z=-2.487, Z=-3.528, t=3.532, t=-2.24, all P＜0.05). For the patients with NICCD, blood tandem mass spectrometry showed that the most common abnormalities were the increased levels of arginine, citrulline, methionine, free carnitine, and long-chain acylcarnitine, while urinary gas chromatography showed the increased levels of 4-hydroxyphenyllactic acid, galactose, galactitol, and galactonic acid. Gene detection was performed for all 23 patients and identified 16 pathogenic mutations, among which 7 were newly discovered, namely ivs14-9a＞G, c1640 G＞A, c.762T＞A, c.736delG, c.1098 T del, c.851G＞A, and c.550G＞A. Except for the 2 patients who were lost to follow-up, the levels of aminotransferases and bilirubin gradually returned to normal in 21 patients after 2-6 months of treatment; none of them showed delayed growth and development after being followed up to the age of 1 year, and 2 of them developed dietary preference (they liked fish and meat and did not like staple food). ConclusionAbnormalities of blood GGT, TBA, Alb, and APTT may provide ideas for the differential diagnosis of NICCD and INC. NICCD gene mutations in northern China are heterogeneous and most patients tend to have a good prognosis.

OBJECTIVETo investigate the anti-oxidative stress and anti-fibrotic mechanisms of adiponectin by examining effects on oxidative stress levels and expression of fibrosis-related signaling factors, including transforming growth factor-beta 1 (TGFb1), collagen I (COL-1), and the adenosine monophosphate-activated protein kinase (AMPK) pathway by using an in vitro HSC-T6 cultured cell system.

METHODSActivated HSC-T6 cells were pre-treated with 1.0 mug/mL adiponectin for 0, 30, 60 and 120 min, or left untreated to serve as controls, and both groups were then exposed to 5 mumol/L H2O2; a portion of the adiponectin-treated oxidative stress-induced cells were treated with an AMPK inhibitor (Compound C). The effects on mRNA levels of TGFb1. and COL-1 were analyzed by real-time PCR, in the levels of secreted TGF-b1 and COL-1 were detected by enzyme-linked immunosorbent assay of supernatants, and in the phosphoAMPK and AMPK protein expressions were detected by Western blotting.

RESULTSCompared to the H2O2 group without adiponectin pre-treatment, the H2O2 group with adiponectin pre-treatment showed significantly increased activity of superoxide dismutase (SOD), decreased content of malondialdehyde (MDA), and decreased gene and protein expressions of TGF-b1 and COL-1 (P less than 0.05). Moreover, inhibition of the AMPK pathway inhibited these adiponectin-mediated effects. The H2O2 group with adiponectin pre-treatment also showed increased levels of phospho-AMPK protein expression, with the maximum effect detected after 120 min of the adiponectin pre-treatment (P less than 0.01).

CONCLUSIONInhibition of oxidative stress is one of the mechanisms of the anti-fibrotic effects of adiponectin. Adiponectin can attenuate oxidative stress levels, resulting in down-regulation of TGFb1 and COL-1 expression through activation of the AMPK pathway.

AMP-Activated Protein Kinases ; Adiponectin ; Cell Line ; Collagen Type I ; Down-Regulation ; Hepatic Stellate Cells ; Humans ; Hydrogen Peroxide ; Oxidative Stress ; RNA, Messenger ; Signal Transduction ; Transforming Growth Factor beta1

OBJECTIVE: To explore the characteristics of SLC25A13 gene variants in 16 infants with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). METHODS: The infants were subjected to high-throughput DNA sequencing for coding exons and flanking regions of the target genes. Suspected variants were verified by Sanger sequencing and bioinformatic analysis. RESULTS: Among the 16 NICCD cases, 15 were found to harbor pathogenic variants. Among these, IVS14-9A>G, c.1640G>A, c.762T>A, c.736delG, c.1098Tdel and c.851G>A were previously unreported. CONCLUSION Six novel SLC25A13 variants were found by high-throughput sequencing, which has enriched the spectrum of SLC25A13 gene variants and provided a basis for genetic counseling and prenatal diagnosis.
Calcium-Binding Proteins/genetics* ; Cholestasis, Intrahepatic/genetics* ; Citrullinemia/genetics* ; Humans ; Infant ; Infant, Newborn ; Mitochondrial Membrane Transport Proteins/genetics* ; Mutation ; Organic Anion Transporters/genetics* ; Protein Deficiency

Objective:To investigate and analyze the quality of life of occupational patients in Hangzhou and its influencing factors, so as to improve their qol.Methods:From January 2007 to June 2018, patients with diagnosed occupational diseases in Hangzhou City were randomly sampled in October 2019. The patients＇basic condition and quality of life were investigated by self-made questionnaire and SF-36, a total of 303 valid questionnaires were collected and the influencing factors were analyzed by correlation analysis and multiple linear regression.Results:The scores of physiological function, physiological function, physical pain, general health status, energy, social function, emotional function and mental health of the patients with occupational diseases in Hangzhou were lower than those of the general population in China, the differences were statistically significant ( P<0.01) . The main factors affecting the score of quality of life of occupational patients are the types of occupational diseases, the level of disability and the duration of illness, the condition of suffering from other diseases, age, educational level, whether they are entitled to Work Injury Insurance, economic income, medical security and social support, the difference was statistically significant ( P<0.05) . Conclusion:The quality of life of the patients with occupational diseases in Hangzhou City is poor, and the corresponding measures should be established to improve the qulity of life.

Objective:To explore the application of the Short Form of Quality of Life (SF-36) scale in the investigation of quality of life of occupational disease patients.Methods:In May 2019, SF-36 scale was used to investigate the occupational disease patients diagnosed in Hangzhou. The reliability of the scale was evaluated by Cronbach's α coefficient, and the validity of the scale was evaluated by exploratory factor analysis.Results:The Cronbach's α coefficients of PF, RP, BP, GH, VT, SF, RE and MH were 0.937, 0.977, 0.870, 0.908, 0.815, 0.701, 0.967 and 0.863 respectively, and the half reliability coefficient α=0.905. The two factor statistics representing physiological and psychological aspects were 0.870, and the approximate chi square value was 1784.337 ( P<0.01) . Compared with the national norm, the scores of each dimension of quality of life of occupational disease patients were significantly lower, and the differences were statistically significant ( P<0.01) ; Compared with the scores of each dimension of quality of life of pneumoconiosis patients, the scores of PF, RP and GH of occupational disease patients were significantly higher, and the differences were statistically significant ( P<0.05) . Conclusion:SF-36 scale has good reliability and validity in measuring the quality of life of patients with occupational diseases, which can be used to evaluate the quality of life of patients with occupational diseases.