Objective To explore the clinical characteristics of late-onset ornithine carbamoyltransferase deficiency (OTCD) in order to improve the clinicians' understanding of this disease.Methods The clinical,therapeutic and follow-up data of two patients with late-onset OTCD diagnosed in the Department of Neurology,Qilu Hospital of Shandong University from November 2017 to February 2018 were collected and analyzed.Results Case 1 is a 17-year-old male who was admitted into Qilu Hospital with recurrent dizziness and vomiting for 4 months,sudden mental abnormality and convulsion for 3 days.The liver dysfunction,respiratory alkalosis and hyperammonemia (434 μmol/L) had been found before his admission.His blood ammonia fluctuated obviously from 180 μ mol/L to 2998 μmol/L,though he was given hemodialysis and arginine infusion,and died on the fourth day after admission.Case 2 is a 15-year-old male,complained with recurrent dizziness,vomiting,bluntness and somnolence for 20 days.He was found with hyperammonemia (600 μmol/L) and liver dsyfunction in a local hospital.He was getting better after intravenous administration of arginine and liver protective drugs.After admission,the blood ammonia,liver function and amino acids,acylcarnitine profiling in dried blood spots,and organic acid analysis in urine were normal,and he has not recurred since restriction of protein diet.Brain magnetic resonane imaging of both patients showed cytotoxic edema of bilateral frontal lobe and insular cortex,and their genetic detection both showed c.119G＞A(p.R40H) hemizygous pathogenic mutation of OTC gene inherited from their respective mothers.Conclusion Unexplained hyperammonemia and acute encephalopathy with insular and frontal cortical involvement should be on the alert to the urea cycle disorders,especially OTCD.Early diagnosis and reasonable treatment are the key to changing the prognosis.

Objective To explore the function of soluble apoptosis inhibitive factor Fas (sFas) in pathogenesis of Graves ophthalmopathy (GO). Methods The subjects were enrolled in the Second Affiliated Hospital of Harbin Medical University from January 2014 to January 2017, and they were divided into three groups: GO accompanied with Graves disease (GD) group, GO without GD group and normal control group, with 30 patients in each group. Serum levels of sFas in three groups were investigated with enzyme-linked immunosorbent assay, and serum levels of freeing triiodothyronine (FT3), serum free thyroxine (FT4), thyrotrophin (TSH), thyroglobulin antibody (TGAb), thyroid peroxidase antibody (TPOAb) were measured by chemoluminescent technique, and compared. Results The serum level of sFas in GO accompanied with GD group was (0.76 ± 0.13)μg/L, which was higher than that in GO without GD group [(0.63 ± 0.08)μg/L] and normal control group [(0.52 ± 0.05)μg/L], and there was significant difference (P＜0.01). The serum level of sFas in GO without GD group and normal control group had significant difference (P＜0.05). The serum levels of FT3, FT4, TGAb, TPOAb in GO without GD group were lower than those in GO accompanied with GD group (P＜0.01).The serum level of TSH in GO without GD group was higher than that in GO accompanied with GD group (P＜0.01). The concentration of sFas were negatively correlated with FT3, FT4, TSH, TGAb and TPOAb (P > 0.05). Conclusions Abnormal serum concentration of sFas can be observed in patients with GD and GO which proves that sFas may play a role in the pathogenesis of GD and GO.

Objective: To evaluate the anti-tumor activity of mouse multi-subtype heat shock protein/peptide (mHSP/P) vaccine in combination with a programmed death ligand 1 (PD-L1) inhibitor in mouse sarcoma. Methods: Immunohistochemical staining and en-zyme-linked immunosorbent assay (Elisa) was used to quantitatively identify the expression of heat shock proteins (HSP70, HSP90, Grp94) in the sarcoma cell line MCA207. From the protein suspension prepared, mHSP/P and Grp94/peptide (Grp94/P) sarcoma vac-cines were isolated using chromatography and were identified by Western blot (WB). Flow cytometry was used to determine their cy-totoxic effects. The levels of interferon-γ (IFN-γ) and tumor necrosis factor-α (TNF-α) produced upon mHSP/P and Grp94/P stimulation were measured by Elisa. The effect of sarcoma vaccines on the growth and survival of sarcoma was evaluated in mice. The expression of PD-L1 on the surface of MCA207 sarcoma cells was evaluated by immunofluorescent staining. The effect of IFN-γ treatment on the expression of PD-L1 was determined by WB. Animal experiments explored the effects of PD-L1 inhibitor in combination with mHSP/P treatment on tumors. Results: Tumor tissue carries a variety of HSP subtypes (HSP70, HSP90, Grp94). We successfully isolated sarco-ma tissue-derived mHSP/P and Grp94/P tumor vaccines, which were identified by WB; flow cytometry analysis demonstrated their cy-totoxicity. The levels of IFN-γ and TNF-α cytokines upon mHSP/P stimulation were significantly higher than that observed upon Grp94/P stimulation (P<0.05). The expression of PD-L1 on the surface of sarcoma cells increased with IFN-γ treatment. Animal experiments demonstrated that PD-L1 inhibitor in combination with mHSP/P significantly increased the immune response against tumor (P<0.05). Conclusions: Tumor-derived mHSP/P and Grp94/P can be used as tumor vaccines in animal models. The mHSP/P can elicit a stronger anti-tumor immune response than Grp94/P. IFN-γ stimulates the expression of PD-L1 in sarcoma cells, which results in immune eva-sion. The PD-L1 inhibitor in combination with mHSP/P increased the anti-tumor effect in the tumor microenvironment.

Objective To evaluate the impact of cardiopulmonary resuscitation (CPR) training on the willingness to perform on-site rescue for patients with apnea and cardiac arrest. Methods Through questionnaire survey, the analyses on the differences in the results of evaluating various indicators in CPR Willingness Questionnaire in 364 willingness (including 14 recurrent training personnel) of Yunnan Emergency Center from January 2017 to June 2018 before and after CPR training were carried out in order to observe the impact of training on willingness CPR willingness. Results A total of 364 questionnaires were distributed and 364 valid questionnaires were recovered, with a recovery rate of 100%. Compared with those before the CPR training, the analyses of the contents of the questionnaire showed that the proportions of following 6 types of volunteer who were reluctant to implement CPR on site begore training were significantly lower after CPR training [no confidence in their own operational skills: 20.3% (74/364) vs. 83.2% (303/364), being impossible to identify the patients requiring CPR: 25.5% (93/364) vs. 87.1% (317/364), fear of mouth-to-mouth artificial respiration to contract infectious diseases: 30.2% (110/364) vs. 82.4% (300/364), worried about chest compressions leading to bone fractures: 23.3% (85/364) vs. 86.8% (316/364), worried about the inaccurate positioning of chest compressions: 12.4% (45/364) vs. 82.4% (300/364) and fear of taking legal responsibility: 14.3% (52/364) vs. 89.8% (327/364)], and the differences were statistically significant (all P < 0.05); after training, the following 3 kinds of proportions of carrying out CPR were much higher than those before training [volunteers were willing to implement CPR on site for strangers: 83.2% (303/364) vs. 54.9% (200/364), volunteers were willing to implement CPR on site for friends, colleagues, classmates and other acquaintances: 83.5% (304/364) vs. 58.2% (212/364), volunteers were willing to implement CPR on site for family members: 84.6% (308/364) vs. 61.8% (225/364)], the differences being statistically significant (all P < 0.05). Conclusion CPR training for volunteers can improve their willingness to perform on-site rescue for patients with apnea and cardiac arrest, but there are still partial barriers of CPR willingness for strangers.

OBJECTIVE: To determine the frequency of Hong Kong αα (HK αα) gene in α3.7 positive samples among carriers from Fujian area. METHODS: Routine genetic testing for thalassemia was carried out for 10145 patients with positive screening results. Single PCR and two-round nested PCR were utilized to detect HK αα among 507 patients with α3.7/αα and 2 patients for whom electrophoresis showed α3.7, -αSEA and normal α2 alleles. Reverse dot blot test was used for detecting non-deletional α-thalassemia and β-thalassemia variants. RESULTS: Among the 507 patients with α3.7/αα, HK αα was identified in 35 cases, which included 25 HK αα/αα, 5 HK αα/α3.7, 4 HK αα/αα with heterozygous CD41/42 (HBB: c.126_129delCTTT) variant, 1 HK αα/αα with IVS-II-654 (HBB: c.316_197C>T) heterozygous variant. One patient was confirmed to have α3.7/anti4.2 genotype. The two cases with α3.7, -αSEA and normal α2 alleles were confirmed to be HK αα/--SEA. The frequency of HK αα genotype in Fujian area was therefore 7.27% among patients with α3.7 and 0.36% in the general population. CONCLUSION A certain proportion of HK αα has been detected in Fujian area, which will enable more accurate diagnosis and genetic counseling.
Genotype ; Heterozygote ; Hong Kong ; Humans ; alpha-Thalassemia ; beta-Thalassemia

Objective To investigate the effect and mechanism of astragalusⅣ (AS-Ⅳ) on the expression of CCL18in U937macrophages.Methods The expression of CCL18mRNA was detected by real time PCR.The expression of CCL18protein was assessed by Elisa.The expression of IL-4receptor was measured by flow cytometry.The STAT 6phosphorylation was measured by Elisa.The activity of JAK kinase was detected by Z″-LYTETMkinase assay.Results AS-Ⅳsignificantly down-regulated the expression of CCL18in U937macrophages stimulated by IL-4with a dose-dependent manner.However, AS-Ⅳhad no significant effect on IL-4receptor subunit expression.The STAT6phosphorylation was inhibited by AS-Ⅳ, but the effect was less than AS1517499;the activity of JAK1, JAK3and TYK2kinase were inhibited by AS-Ⅳ.Conclusion AS-Ⅳcould inhibit the expression of CCL18in U937macrophages stimulated by IL-4.One of the suggested mechanisms was due to inhibition of JAK kinase activity, which caused STAT6transcriptional activity down and inhibited CCL18gene expression.

Objective To observe the levels of serum reactive oxygen species (ROS) and hydrogen sulfide(H2S) in patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD), and nicotinamide adenine dinucleotide phosphate?reduced (NADPH) oxidase 4 (NOX4) and cystathionine?γ?lyase (CSE) in lung tissue of patients with stable chronic obstructive pulmonary disease (COPD). Methods (1) A total of 60 patients with AECOPD admitted to the Department of Respiratory Medicine at Ningxia Hui People′s Hospital from November 2015 to December 2016 were recruited. According to the results of pulmonary function and echocardiography, the participants were divided into AECOPD?related pulmonary hypertension (PH) group(A) and AECOPD non?PH group (B).Other 30 healthy subjects were selected as the control group (C).Serum ROS and H2S of group A, B and C were detected by enzyme?linked immunosorbent assay (ELISA).(2)The lung tissues of patients undergoing lobectomy for lung cancer from November 2012 to April 2017 were collected, who were divided into COPD?related PH group (D), COPD non?PH group (E) and negative control (F). The expression of NOX4 and CSE protein in lung tissue was detected by immunohistochemistry and the thickness of pulmonary arteriole wall was measured. Results (1)The serum ROS level in group A was higher than group B and C which were (613.52±69.66)IU/ml,(565.76±71.33)IU/ml, (294.63±60.39)IU/ml, respectively with that in group B higher than that in group C (P<0.05). Serum H2S level in group A was lower than group B and C, with that in group B lower than group C [(18.59±5.50) nmol/ml, (20.49±4.97) nmol/ml, (38.03±4.43) nmol/ml, respectively P<0.05]. ROS level was positively correlated with pulmonary systolic pressure (PASP) (r=0.59, P<0.05), H2S level was negatively correlated with PASP(r=-0.62, P<0.05).(2)The lung tissue expression of NOX4 in group D was higher than group E and F (P<0.05), which were 0.08±0.01,0.06±0.01,0.03±0.01, respectively,while the level of NOX4 in group E was higher than group F (P<0.05). The expression of CSE between group D, E and F were all significantly different (P<0.05),which were 0.03±0.01, 0.07±0.02,0.12±0.02, respectively.(3)Smooth muscle thickness of pulmonary arterioles as a percentage of vascular diameter (WT%) between group D, E and F was all different(P<0.05), which were (40.58±6.63)%,(36.87±5.60)%,(31.27±6.24)%, respectively; so was smooth muscle area of pulmonary arterioles as a percentage of total vascular area(WA% ) with (32.33 ± 6.27)% , (30.20±5.28)%, (25.20±4.31)%, respectively (P<0.05). (4)The expression of NOX4 was positively correlated with WT% and WA% , r was 0.81 and 0.66, respectively (P<0.05). The expression of CSE was negatively correlated with WT% and WA%, r was-0.55 and-0.39 respectively (P<0.05). Conclusions NOX4/ROS and CSE/H2S signaling pathways may play an important role in the pathogenesis of COPD related PH.

Objective: To observe the levels of serum reactive oxygen species (ROS) and hydrogen sulfide(H₂S) in patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD), and nicotinamide adenine dinucleotide phosphate-reduced (NADPH) oxidase 4 (NOX4) and cystathionine-γ-lyase (CSE) in lung tissue of patients with stable chronic obstructive pulmonary disease (COPD). Methods: (1) A total of 60 patients with AECOPD admitted to the Department of Respiratory Medicine at Ningxia Hui People′s Hospital from November 2015 to December 2016 were recruited. According to the results of pulmonary function and echocardiography, the participants were divided into AECOPD-related pulmonary hypertension (PH) group(A) and AECOPD non-PH group (B).Other 30 healthy subjects were selected as the control group (C).Serum ROS and H₂S of group A, B and C were detected by enzyme-linked immunosorbent assay (ELISA).(2)The lung tissues of patients undergoing lobectomy for lung cancer from November 2012 to April 2017 were collected, who were divided into COPD-related PH group (D), COPD non-PH group (E) and negative control (F). The expression of NOX4 and CSE protein in lung tissue was detected by immunohistochemistry and the thickness of pulmonary arteriole wall was measured. Results: (1)The serum ROS level in group A was higher than group B and C which were (613.52±69.66)IU/ml,(565.76±71.33)IU/ml, (294.63±60.39)IU/ml, respectively with that in group B higher than that in group C (P<0.05). Serum H₂S level in group A was lower than group B and C, with that in group B lower than group C [(18.59±5.50) nmol/ml, (20.49±4.97) nmol/ml, (38.03±4.43) nmol/ml, respectively P<0.05]. ROS level was positively correlated with pulmonary systolic pressure (PASP) (r=0.59, P<0.05), H₂S level was negatively correlated with PASP(r=-0.62, P<0.05).(2)The lung tissue expression of NOX4 in group D was higher than group E and F (P<0.05), which were 0.08±0.01,0.06±0.01,0.03±0.01, respectively,while the level of NOX4 in group E was higher than group F (P<0.05). The expression of CSE between group D, E and F were all significantly different (P<0.05),which were 0.03±0.01, 0.07±0.02,0.12±0.02, respectively.(3)Smooth muscle thickness of pulmonary arterioles as a percentage of vascular diameter (WT%) between group D, E and F was all different(P<0.05), which were (40.58±6.63)%,(36.87±5.60)%,(31.27±6.24)%, respectively; so was smooth muscle area of pulmonary arterioles as a percentage of total vascular area(WA%) with (32.33±6.27)%, (30.20±5.28)%, (25.20±4.31)%, respectively (P<0.05). (4)The expression of NOX4 was positively correlated with WT% and WA%, r was 0.81 and 0.66, respectively (P<0.05). The expression of CSE was negatively correlated with WT% and WA%, r was -0.55 and -0.39 respectively (P<0.05). Conclusions NOX4/ROS and CSE/H₂S signaling pathways may play an important role in the pathogenesis of COPD related PH.

Objective: To analyze the prevalence of pneumoconiosis and assistance guarantee of the migrant workers of the district in Chongqing from 2006 to 2017, so as to provide scientific basis for prevention and control of pneumoconiosis of the migrant workers. Methods: The database of new pneumoconiosis cases of the migrant workers and assistance guarantee of the district in Chongqing from 2006 to 2017 were subjected to systematic arrangement. SPSS 18.0 was adopted for statistical description and analysis. Results: From 2006 to 2017 a total of 2188 new cases of pneumoconiosis were diagnosed, including I (917, 41.91%) , II (1003, 45.84%) , III (268, 12.25%) . Most of new cases of pneumoconiosis were silicosis. The median length of seniority was 6 years. The mean diagnostic age was 44.25. Significant difference was found in diagnosis age between different stages (F=3.161, P=0.043) . 98.77% of migrant workers had no units. There were 5.07% of migrant workers who took out industrial injury insurance, 14.58% receiving civil aid, 31.12% receiving aid from poverty alleviation, and 93.46% participating medical insurance. Conclusion The prevalence of pneumoconiosis of the migrant workers of the district in Chongqing was serious. The prevention and control of pneumoconiosis should be enhanced to reduce the harm of pneumoconiosis of the migrant workers in Chongqing.

Objective: To analyze the prevalence of pneumoconiosis and civil aid and medical care among Xiangyang-Chongqing railway construction workers in Chongqing from 2011 to 2018, so as to provide scientific basis for prevention and control of pneumoconiosis. Methods: The Chongqing database of Xiangyang-Chongqing railway construction workers cases from 2011 to 2018 were subjected to systematic collected. SPSS 18.0 was adopted for statistical description and analysis. Results: From 2011 to 2018, a total of 7031 silicosis cases were diagnosed, and 5827 cases were existed, including 4056 cases of stage I, 1491 cases of stage II, and 280 cases of stage III. The cases were concentrated in the area along the southwest to northeast of Chongqing. The diagnosis age of silicosis patients was mainly 60~64 years old (69.73%) . Most silicosis cases were the drill workers and the stone workers. The exposure time of silicosis patients was short and concentrated in 3 years. The 5827 cases of pneumoconiosis in the Xiangyang-Chongqing railway were all treated with special civil aid and medical care for pneumoconiosis in the Xiangyang-Chongqing railway. Conclusion The prevalence of silicosis among workers who participated in Xiangyang-Chongqing railway construction remained serious. Civil aid and medical care covers all silicosis patients. Occupational health surveillance for silicosis and assistance should be carried out in these workers.