Preparation of a Questionnaire on Medical Students’ Cognition Level of Public Health Ethics / 中国医学伦理学

【Objective:】 To construct a questionnaire on medical students’ cognition level of public health ethics, and to provide a scientific and objective evaluation tool for understanding the cognitive level of medical students on public health ethics. 【Methods:】 Based on the literature review and focus group discussion, the initial questionnaire was constructed. The Delphi method was used to conduct three rounds of correspondence with 12 experts, and the final questionnaire was drafted. And exploratory factor analysis and internal consistency were used to evaluate the questionnaire. 【Results:】 In the three rounds of correspondence, the enthusiasms of experts were all 100%, the authority coefficients were all 0.84, the coefficients of variation were 0~0.32, 0~0.26, 0~0.12, respectively, and the coordination coefficients were 0.206, 0.163, and 0.250, respectively (all P<0.05). The analysis of the items showed that the critical ratio values and related coefficients of the questionnaire items were statistically different. The structural validity analysis showed that the cumulative variance contribution rate of the extracted two common factors was 61.015%. The intrinsic consistency reliability analysis showed that the questionnaire Cronbach’s coefficient was 0.956. Finally, the questionnaire of 26 items was formed, including two dimensions: knowledge of public health ethics and application of public health ethics. 【Conclusion:】 The questionnaire on medical students’ cognition level of public health ethics is reliable and has good reliability and validity, and can be used as a tool for medical students’ public health ethics cognition level.

Expression of peripheral interleukin-35 and its modulatory effect on regulatory T cell functions in patients with alopecia areata / 中华皮肤科杂志

Objective:To investigate changes in the peripheral interleukin-35 (IL-35) level in patients with alopecia areata, and to assess its modulatory effect on regulatory T (Treg) cell activities.Methods:Totally, 81 patients with alopecia areata (alopecia areata group) and 27 healthy volunteers (control group) were enrolled from Shanxi Provincial People′s Hospital between December 2019 and January 2021. Sera and peripheral blood mononuclear cells (PBMCs) were isolated. Enzyme-linked immunosorbent assay (ELISA) was performed to detect the serum IL-35 level, real-time fluorescence-based quantitative PCR to determine the mRNA expression of IL-35 subunits EBI3 and IL-12p35, and flow cytometry to determine the proportion of CD4 + CD25 + CD127 dim/- Treg cells. Sorted Treg cells were stimulated by recombinant human IL-35, ELISA was performed to detect levels of perforin and granzyme B in the culture supernatant, and real-time fluorescence-based quantitative PCR to determine the mRNA expression of EBI3, IL-12p35, and immune checkpoint molecules, such as programmed death protein 1 (PD-1) , T cell immunoglobulin and mucin protein-3 (Tim-3) , cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) and lymphocyte activation gene-3 (LAG-3) in Treg cells. IL-35-stimulated or unstimulated Treg cells were co-cultured with autologous PBMCs, and cell counting kit-8 (CCK8) assay was conducted to assess cellular proliferative activity. Measurement data were compared between 2 groups by using t test, comparisons among multiple groups were carried out by using one-way analysis of variance, correlation analysis was carried out by using Pearson correlation analysis, and enumeration data were compared by using chi-square test. Results:Compared with the control group, the alopecia areata group showed significantly decreased IL-35 levels (90.10 ± 11.98 ng/L vs. 100.74 ± 28.71 ng/L, t= 2.71, P= 0.008) , mRNA expression of EBI3 and IL-12p35 in PBMCs (EBI3: 1.06 ± 0.15 vs. 1.25 ± 0.11, t= 6.09, P < 0.001; IL-12p35: 1.00 ± 0.15 vs. 1.38 ± 0.22, t= 10.16, P < 0.001) , and proportions of Treg cells (5.91% ± 1.17% vs. 6.85% ± 1.23%, t= 3.54, P= 0.001) . In the alopecia areata group, the proportion of Treg cells was positively correlated with the serum IL-35 level ( r= 0.25, P= 0.026) , and the mRNA expression of EBI3 and IL-12p35 in PBMCs ( r= 0.31, 0.24, P= 0.004, 0.032, respectively) . Compared with the control group, the unstimulated Treg cells from the alopecia areata group showed significantly decreased supernatant levels of perforin and granzyme B, mRNA expression of EBI3, IL-12p35 and immune checkpoint molecules ( P < 0.05 or 0.001) , as well as weakened inhibitory effect on the proliferative activity of PBMCs ( P= 0.013) . There was no significant difference in the level of perforin or granzyme B between the recombinant human IL-35-stimulated and unstimulated Treg cells from the patients with alopecia areata (both P > 0.05) . However, the mRNA expression of EBI3, IL-12p35 and immune checkpoint molecules was significantly higher in the IL-35-stimulated Treg cells than in the unstimulated Treg cells in the alopecia areata group ( P < 0.05 or 0.001) , and the inhibitory effect on the proliferative activity of PBMCs was also significantly enhanced in the IL-35-stimulated Treg cells compared with the unstimulated Treg cells ( P= 0.037) . Conclusion:The peripheral IL-35 level was significantly decreased in the patients with alopecia areata, which was closely associated with reduced activities of Treg cells, and IL-35 may be involved in the occurrence of alopecia areata.

Regulatory effect of interleukin-18 on natural killer cell activity in patients with alopecia areata / 中华皮肤科杂志

Objective:To investigate changes of natural killer (NK) cell subsets and interleukin-18 (IL-18) level in peripheral blood of patients with alopecia areata, and to assess the regulatory effect of IL-18 on NK cell activity.Methods:A total of 67 patients with alopecia areata (alopecia areata group) and 25 healthy volunteers (control group) were collected from Shanxi Provincial People′s Hospital between December 2019 and January 2021. Peripheral blood mononuclear cells (PBMCs) and plasma were isolated. The percentage of NK cell subsets was investigated by flow cytometry, and plasma IL-18 level was measured by enzyme-linked immunosorbent assay. PBMCs were stimulated with recombinant human IL-18, and co-culture systems of PBMCs with 721.221 cells, K562 cells and P815-Ab cells were established separately. NK cell function was assessed by determining the percentage of CD107a-expressing NK cells and fluorescence intensity of CD16 + NK cells. Comparisons between groups were performed using t test or paired t test. Results:Compared with the control group, the alopecia areata group showed significantly decreased percentage of CD56 +CD16 - NK cells (8.12% ± 3.14% vs. 10.78% ± 4.08%, t = 3.33, P = 0.001) , but significantly increased percentage of CD56 +CD16 + NK cells (46.08% ± 15.21% vs. 32.14% ± 10.45%, t = 4.22, P < 0.001) , and there was no significant difference in the percentage of CD56 -CD16 + NK cells between the alopecia areata group and control group (28.81% ± 8.65% vs. 27.09% ± 7.62%, t = 0.88, P = 0.383) . The plasma IL-18 level was significantly higher in the alopecia areata group than in the control group (112.0 ± 23.72 pg/ml vs. 99.34 ± 15.15 pg/ml, t = 2.48, P = 0.015) . After co-culture with 721.221 cells, K562 cells and P815-Ab cells, the percentage of CD107a-expressing NK cells was significantly higher in NK cells from the alopecia areata group (9.53% ± 1.70%, 5.15% ± 1.35%, 6.50% ± 1.64%, respectively) than in those from the control group (5.00% ± 1.17%, 4.40% ± 1.09%, 5.13% ± 1.36%, respectively, all P < 0.05) . After the stimulation with P815-Ab cells, the alopecia areata group showed significantly decreased fluorescence intensity of CD16 + NK cells (151.10% ± 59.30%) compared with the control group (221.90% ± 93.56%, t = 4.31, P < 0.001) . After IL-18 stimulation, the percentage of CD107a-expressing NK cells significantly increased in the co-culture system of NK cells with 721.221 cells compared with the unstimulated co-culture system (14.47% ± 2.67% vs. 9.93% ± 1.94%, t = 6.00, P < 0.001) , while there was no significant difference between the IL-8-stimulated co-culture system of NK cells with K562 cells or P815-Ab cells and the unstimulated co-culture systems (both P > 0.05) . Conclusion:IL-18 could enhance NK cell activity in patients with alopecia areata, likely by promoting natural cytotoxicity receptor-mediated cytotoxicity.

Treatment and follow-up of 82 children with propionic acidemia / 中华围产医学杂志

Objective:To investigate the treatment and prognosis of children with propionic acidemia (PA).Methods:This study involved 82 children with PA treated in the Department of Pediatric Endocrinol-ogy and Genetic Metabolism, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine from December 2002 to June 2020. Clinical data, including manifestations, laboratory test results, treatment strategy, and follow-up data, were summarized and analyzed using t-test or Mann-Whitney U test. Results:(1) Among the 82 cases consisting of 50 (61.0%) boys and 32 (39.0%) girls, 59 (72.0%) were diagnosed after clinical onset; 22 (26.8%) were diagnosed by newborn screening, including eight asymptomatic ones; the other one (1.2%) was asymptomatic but confirmed after the diagnosis of PA in the patient's sibling. The average age at first onset was 4.5 months (2 d-5 years) in 73 subjects, of which 28 (38.4%) were early-onset PA (within three months after birth). (2) Cranial MRI was performed on 26 cases, and abnormality was identified in 19 (73.1%) cases. (3) Hyperlactatemia was found in 16 cases among 30(53.3%) who underwent relevant examination with the average lactic acid level of 3.5 (2.1-4.3) μmol/L, while 35 out of 40 patients (87.5%) had hyperammonemia with an average blood ammonia level of 105.4 (34-907) μmol/L. (4) Among the 28 early-onset PA cases, 16 (57.1%) died, and 12 (42.9%) survived. There was no significant difference in the serum propionylcarnitine level, propionylcarnitine to acetylcarnitine ratio, urine 3-hydroxypropionic acid, or methylcitrate level between the survival and death cases. (5) Genetic mutations were detected in 75 patients (91.5%), among which 26 (34.7%) carried PCCA gene mutations and 48 (64%) with PCCB gene mutations. One patient (1.3%) harbored one known pathogenic mutation in each of the PCCA and PCCB genes. All mutations were inherited from the parents. (6) Followed up to June 2020, 57 (69.5%) patients survived, and 25 (30.5%) died from multiple organ failure secondary to severe acidosis, including 16 early-onset and nine late-onset cases. Conclusions:The primary treatment of PA is dietary control. Most PA patients are diagnosed after clinical onset, but symptoms may recur and even have developmental retardation despite treatment. Some of those diagnosed through newborn screening are asymptomatic after treatment. Newborn screening using tandem mass spectrometry is recommended for early diagnosis and treatment of PA.

Correlation analysis between psychological status and blood pressure of surrounding residents and employees in a medium-risk area during COVID-19 epidemic / 中华健康管理学杂志

Objective:To explore the correlation analysis between psychological status and blood pressure of residents in medium-risk areas during the coronavirus disease 2019 (COVID-19) epidemic, and provide references for early psychological intervention and hypertension management during the COVID-19 epidemic.Methods:From January 4 to 8, 2021, the convenience sampling method was used to conduct psychological questionnaire surveys on residents and employees of enterprises in the medium-risk area and surrounding areas of Jiuxianqiao, Chaoyang District, Beijing. General data (gender, age, height, weight, history of smoking and drinking, previous medical history), and home blood pressure monitoring were collected. Pearson′s χ 2 test was used to compare different factors (anxiety, depression, age, gender, body mass index, smoking, drinking, and history of chronic diseases) in normal blood pressure or not. A multivariate logistic regression analysis model was established to explore independent risk factors of abnormal blood pressure. Results:No anxiety accounted for 75% (684/912), and anxiety accounted for 25% (228/912). No depression accounted for 67% (611/912), depression accounted for 33% (301/912). Both anxiety and depression accounted for 23% (210/912). The substandard blood pressure accounted for 10.3% (94/912). The incidence of poor blood pressure control in participants with anxiety was 30.7% (70/228), which was significantly higher than that of participants without anxiety 3.5% (24/684) (χ 2=136.779, P<0.001). The incidence of poor blood pressure control in participants with depression 27.2% (82/301) was significantly higher than that of participants without depression 2.0% (12/611) (χ 2=139.388, P<0.001). Multivariate logistic regression analysis showed anxiety ( OR=3.261, P<0.001), depression ( OR=7.928, P<0.001), and complications of chronic diseases ( OR=3.207, P<0.001) were closely related to whether blood pressure was under control. Conclusions:During the COVID-19 epidemic, the psychological status of residents and employees in medium-risk areas should be screened and interventions implemented accordingly to prevent unstable blood pressure caused by anxiety or depression.

Empirical study on health literacy improvement through grid model of health education in college students / 中国学校卫生

Objective@#To explore the application of grid health education model in improving college students health literacy.@*Methods@#The clustered stratified random sampling method was used among the pre-formative education freshmen in a Xi-an university, with 1 123 students randomly selected totally. The intervention group (578) received health literacy education based on grid health education model, while the control group (545) receuved the original health education model. The effect of gird model of health education on health literacy was compared between two groups of college students after one-semester intervention.@*Results@#Insufficient health literacy was found among freshmen participants in Xi an(17.12%, 17.61%); health literacy on prevention and treatment of chronic diseases (15.92%, 16.70%) was significantly lower than the national average level of urban residents(22.73%). Health literacy of the two groups of college students was significantly improved(47.75%, 27.71%, χ 2=20.50, 5.47, P<0.05). The grid health education model had significant effects in improving health literacy among college students, except for health literacy on safety and emergency(P<0.05).@*Conclusion@#Health literacy of college students is insufficient compared to that of urban residents in China. Grid model of health education model is superior to conventional health education model, which is in line with the requirements of health education in colleges in the new era.

Clinical application of a new-generation Xpert Mycobacterium tuberculosis/rifampin Ultra cartridge / 中华传染病杂志

Objective To investigate the clinical value of a new-generation cartridge Xpert MTB/RIF Ultra assay on detection of Mycobacterium tuberculosis(MTB)and rifampin(RIF)resistance.Methods A total of 111 patients from He'nan Provincial Chest Hospital with suspected tuberculosis(TB)and retreated TB were enrolled into this study from March to December 2016,including 33 cases of tuberculosis detection group(CDG)and 78 cases of drug resistant high-risk group(DRG).The sputum samples of patients were collected.The sensitivity and specificity of Xpert MTB/RIF Ultra,sputum smear,solid Lowenstein-Jensen(L-J)culture and mycobacterial growth indicator tube(MGIT)culture for MTB were evaluated.RIF resistance was performed by Xpert MTB/RIF Ultra,traditional phenotypic drug sensitivity test and Xpert MTB/RIF assay.Measurement data were compared using t-test,and categorical data were compared using chi-squared test.Results Using clinical diagnosis result as the standard,in the CDG,the sensitivity of Xpert MTB/RIF Ultra for MTB detection(75.8%)was not significantly different from those of sputum smear(66.7%),L-J culture(63.6%),MGIT culture(75.6%)and Xpert MTB/RIF(66.7%)(x2=0.67,1.15,0.00 and 0.67,respectively,all P>0.05).In the DRG,the sensitivity of Xpert MTB/RIF Ultra(94.9%)was better than those of L-J culture(55.1%)and MGIT culture(80.8%)with statistical significance(x2=32.8 and7.25,respectively,both P <0.05).The sensitivity of Xpert MTB/RIF Ultra was not significantly different from sputum smear(84.6%)and Xpert MTB/RIF(91.0%)(x2=3.41 and 0.39,respectively,both P>0.05).Xpert MTB/RIF Ultra took the shortest time to obtain the final results,which was(1.76±0.18)h and significantly shorter than smear test([5.04±0.49]h),L-J culture([31.67±0.56]h),MGIT culture([22.36±9.68]h),Xpert MTB/RIF([2.00±0.30]h)(t=16.90,31.98,24.38 and 7.05,respectively,all P <0.01).Using culture result as the standard,the sensitivity for MTB detection of Xpert MTB/RIF and Xpert MTB/RIF Ultra were 93.2% and 98.9%,and the specificity of Xpert MTB/RIF and Xpert MTB/RIF Ultra were both 100%.The sensitivity for MTB detection of Xpert MTB/RIF Ultra(52.2%)was significantly better than that of Xpert MTB/RIF(21.7%)in 23 smear-negative pulmonary TB patients with statistical significance(x2=4.98,P=0.025).Using traditional drug susceptibility test as the standard,the sensitivities for RIF resistance detection of Xpert MTB/RIF and Xpert MTB/RIF Ultra in culture-positive TB patients were 90.9% and 93.2%,respectively,and the specificities were 89.5% and 92.9%,respectively.Conclusions Xpert MTB/RIF Ultra has a higher MTB detection rate than Xpert MTB/RIF in smear-negative pulmonary TB patients.In drug-resistant pulmonary TB patient,MTB/RIF Ultra has high sensitivity,and it takes shorter time to detect MTB and RIF resistance.Thus,Xpert MTB/RIF Ultra has a good application prospect in clinical work.

Impact of WeChat-assisted follow-up on the self-administer medication capability of stroke survivors / 中华行为医学与脑科学杂志

Objective To explore the impact of WeChat-assisted follow-up on self-administer medication capability of stroke survivors.Methods Seventy patients were recruited from a tertiary hospital and randomly divided into intervention group (n=35) and control group (n=35).Patients in intervention group were given WeChat-assisted follow-up including health education program and behavior guidance,and patients in control group received regular discharge care.The effects of WeChat-assisted follow-up and regular care on self-administer medication ability,cognitive and behavior level were assessed.Results After three months' follow-up,the scores of self-administer medication capability (38 (32,42)),experience (25 (20,28) and the integral level (87 (71,92)) in intervention group were significantly higher than those in control group (capability 25(16,38),experience 21 (8.75,27),total score 68 (38,87)) (Z=-2.511,-2.033,-2.209,P＜0.05).The self-administer medication experience,cognitive,capability and total scores increased significantly in intervention group after intervention(Z=-4.525,-4.610,-3.806,-4.718,all P＜ 0.01),while only the cognitive level increased slightly in control group (18 (10,24) vs 13 (11,18),Z =-1.794,P=0.073).Conclusions Follow-up intervention based on WeChat platform can improve the stroke patients' self-administration medication capability,however,the long-term effects on cognitive level and further reform need to be strengthened.

Clinical analysis and outcome of patients with c. 482G >A variant of MMACHC gene in cblC type methylmalonic acidemia / 中华内分泌代谢杂志

Objective To explore the clinical manifestations, treatment and outcomes of patients with c. 482G>A ( p. R161Q ) variant of MMACHC gene in cblC type methylmalonic acidemia ( MMA ) . Methods The clinical manifestations, mass spectrometry results, genotypes, treatment and outcomes of 75 patients with cblC type MMAcarryingc.482G>A(p.R161Q)variantwereretrospectivelyanalyzed.Results Ofthe75patients,57(76％) were from newborn screening and one of them had an onset. Among the rest 18 unscreened patients, 2 were diagnosed after their full sisters' or brothers' diagnosis, the others were clinical patients. There were 17 clinical patients, with the medium age of onset 12 years old (10 days～26 years old). 12 late onset patients (70.6％) presented with poor academic performance, memory loss, poor expression, and decreased exercise capacity, while 5 early onset patients (29.4％) presented with convulsion and delay of development. All patients were vitamin B12-responsive. The levels of blood propionylcarnitine, the ratio of propionylcarnitine to acetylcarnitine, urinary methylmalonic acid and methyldecanoic acid, and plasma homocysteine were significantly decreased after treatment (P< 0.01). All patients diagnosed from newborn screening had normal development. However, only 3 clinical patients had a rather normal outcomes and the others remained different levels of intelligence and ( or ) motor dysfunction after treatment. Conclusion The c.482G>A ( p. R161Q) variant of MMACHC gene is associated with late onset cblC type MMA. Patients with this variant have a better response to hydroxycobalamin than other variants. The outcome of patients diagnosed from the newborn screening is good. When symptoms occur, the disability rate is often high. Therefore, newborn screening is a recommended method to prevent this disease.

Clinical phenotypes and genetic study of 2 cases with 22q13 deletion syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the genetic etiology and clinical characteristics of 2 boys featuring development delay (DD).</p><p><b>METHODS</b>Routine chromosomal banding was performed to analyze the karyotypes of the patients and their parents. Single nucleotide polymorphism array (SNP array) analysis was employed to identify pathogenic deletion/duplication of chromosomes, and quantitative real-time PCR (qPCR) was performed to confirm the results.</p><p><b>RESULTS</b>Patient 1 showed a global developmental delay, especially impaired language development, seizures, behavioral problems belonging to the autism spectrum and mild facial dysmorphism. Patient 2 mainly presented with severely delayed speech and moderate intellectual disability, but did not have obvious facial dysmorphism and autistic-like behavior. The diagnosis of 22q13 syndrome was established based on identification of a heterozygous microdeletion at chromosome 22q13.33 in both patients (69 kb and 587 kb, respectively) by the SNP array analysis. Both patients had deletions of SHANK3 and ACR, which are located at the end of 22q. Quantitative real-time PCR verified that the deletion of SHANK3 gene in both patients were de novo in origin.</p><p><b>CONCLUSION</b>Two cases of 22q13 deletion syndrome have been diagnosed by SNP array analysis. Deletion of SHANK3 gene may be the major contributor to the clinical manifestations of the patients. SNP array analysis can facilitate discovery of microdeletions, which has played an important role in the diagnosis and genetic counseling for the family.</p>

Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia / 中华儿科杂志

Objective@#To investigate clinical, molecular genetic characteristics, and treatment outcomes of 3 children with sitosterolemia.@*Methods@#Three cases of children presented with multiple xanthomas during June 2016 to June 2017 were included. The clinical manifestations, laboratory examinations and follow-up data were retrospectively analyzed. DNA was extracted from peripheral blood and analyzed with whole exome sequencing(WES). All the detected variants were confirmed by Sanger sequencing. Plasma plant sterol concentrations were measured by gas chromatography-mass spectrometry.@*Results@#Three cases of children including 1 boy and 2 girls presented with multiple linear and intertriginous xanthomas around skin of the joint areas at the age from 15 months to 6 years and 2 months. Total cholesterol of the 3 cases was elevated to 14.45, 15.47 and 15.85 mmol/L (3.36-6.46), and low density lipoprotein cholesterol was 9.02, 13.54 and 12.47 mmol/L (< 3.36) respectively. Genetic analysis with WES revealed that 2 cases carried compound heterozygous variants in ABCG5 gene, 1 case carried compound heterozygous variants in ABCG8 gene. Two reported variants (p. N437K, p.R446X) and one novel variant (p.Q251X) of ABCG5 were identified in case 2 and 3. Two novel ABCG8 variants (p.R263Q, c.1528_1530delATC) were found in case 1. All these children had extremely high plasma plant sterol levels, thus the diagnosis of sitosterolemia was confirming. The campesterol level was 111.35, 102.86 and 58.91 μmol/L(0.01-10.00), the stigmasterol was 14.97, 29.43 and 17.79 μmol/L (0.10-8.50) and the sitosterol was 231.20, 177.66 and 114.20 μmol/L (1.00-15.00) respectively. The total serum cholesterol levels of three children decreased to nomal after the patients were placed on the low plant sterol/low cholesterol diet. The xanthomas regressed gradually, and almost disappeared after 8 months of treatment in case 1 and 3.@*Conclusions@#Children with sitosterolemia presented with skin xanthomas around the joint areas. The level of total cholesterol, low density lipoprotein cholesterol and plant sterols increased obviously. One novel variant (p.Q251X) of ABCG5 and 2 novel variants (p.R263Q, c.1528_1530delATC) of ABCG8 were identified. Children with sitosterolemia responded well to a low plant sterols/low cholesterol diet.

The clinical and genetic analysis of glycogen storage disease type IV in 5 cases / 临床儿科杂志

Objective To investigate the characteristics of glycogen storage disease type IV (GSD IV) clinically, in laboratory tests and in gene mutation. Methods The clinical manifestations, biochemical indexes, activity of chitotriosidase, and the follow-up of the treatment in 5 cases of GSD IV were analyzed. Results Five patients (3 boys and 2 girls) aged 4 months - 5 years presented hepatosplenomegaly and elevated liver enzyme levels for 2 months at hospital visit. Two patients had motor developmental delay and weakness but their creatine kinase (CK) level were normal. Glycogen storage and liver fibrosis were observed in the liver biopsy in 4 patients. Target sequencing found that all 5 children carried the complex heterozygous mutation of the GBE1 gene with 2 reported mutations(p.R515C,p.R524Q)and 7 novel mutations.The novel mutation contains 5 missense mutations (p.I460T, p.F76S, p.F538V, p.L650R, p.W455R), one insertion mutations (c.141_142insGCGC), and one large fragment deletion (exon 3-7). Therefore, diagnosis of liver type of GSD IV was confirmed in those children. Two patients died of liver cirrhosis. The liver transplantation was performed due to liver cirrhosis in one patient whose chitotriosidase activity increased obviously before transplantation and decreased significantly after the transplantation and liver enzyme levels were returned to normal 4 months after transplantation. In the other two patients their growth and liver enzyme levels were normal;one had not received special treatments while the other was treated with raw corn starch and level of chitotriosidase was normal. Conclusions The clinical manifestations of GSD IV are heterogeneous. Target sequencing can be used for fast and noninvasive diagnosis of GSD IV. Chitotriosidase activity is useful in the prognosis assessment for GSD IV.

Application of Home Care Smartphone Applications in Stroke Patients (review) / 中国康复理论与实践

@#The stroke patients at home have many problems, such as knowledge, medication, monitoring and rehabilitation, which results in poor rehabilitation effect, and the patients need home care urgently. Smartphone applications can provide disease knowledge, health monitoring, drugs reminder, rehabilitation guide and system management, as well as social activities and emergency treatment strategy supplying, which can provide a new home care method for stroke patients. However, there are also many deficiencies, such as simple function design, lack of medical institutions participation in the design, lack of authoritative quality evaluation tool, limitations in users and potential safety hazard.

Acceptance of Smartphone Application for Home Patients with Stroke (review) / 中国康复理论与实践

@#Mbile Health has been recommended by World Health Organization, and mostly actualized by smartphone application (APP). Home patients with stroke accept APP well, and the acceptance of APP relates with the factors of patients, APP and society. Acceptance of APP may be improved by the improvement of technical support, user experience and usability.

Apparent diffusion coefficient histogram analysis: differentiation of clear cell renal cell carcinoma from non-clear cell renal cell carcinoma with r-field of view diffusion weighted imaging / 中华放射学杂志

Objective To explore the utility of ADC histogram analysisin differentiation of clear cell renal cell carcinoma(ccRCC)and non-clear cell renal cell carcinoma(non-ccRCC)with r-Fov DWI. Methods Sixty-six renal tumors(46 patients with 47 ccRCCs and 18 patients with 19 non-ccRCCs)in 64 patients, who underwent preoperative routine renal MRI sequences and r-FOV DWI, were retrospectively evaluated. The whole-lesion ADC values derived from histogram anlysis(including ADC mean, ADC median, ADC_5th, ADC_25th, ADC_75th, ADC_95th, skew and kurtosis)were measured for each patient. All parameters between ccRCC and non-ccRCC were compared by using the Student's t test or Mann-Whitney U test. ROC analysis was used to assess the diagnostic performance of ADC histogram in distinguishing the two groups. Results The postive skewness of ADC histograms were mostly seen in the non-ccRCC group, while the negtative skewness were present in the majority of ccRCCs. The skewness was significantly higher in non-ccRCCs than those of ccRCCs(P0.05). 75th percentile ADC achieved the highest AUC(0.987)in differentiating ccRCC and non-ccRCC, whena cutoff value was 1.81× 10-3 mm2/s. The sensitivity and specificity were 100.0％and 94.7％. Conclusion ADC histograms of r-FOV DWI may be helpful to differentiate ccRCC from non-ccRCC, and the diagnostic accuracy of 75th percentile ADC is highest.

Clinical features and PHKG2 gene mutation analysis of 5 Chinese patients with glycogen storage disease Ⅸc / 临床儿科杂志

Objective To investigate the clinical, laboratory and genetic features of glycogen storage disease(GSD)IXc. Methods Five patients suspected as liver GSD were included in our study. DNA was extracted from peripheral blood of all the patients and diagnoses were made after target sequencing to nearly 2700 disease causing genes. All detected mutations were confirmed in the probands and their parents. Further analysis was based on clinical features, routine laboratory examinations and treatment. Results All the 5 patients manifested with severe hepatomegaly, hypoglycemia, moderately to severely elevated liver enzyme levels, hypertriglyceridemia and growth retardation. Four cases showed poor exercise tolerance but with normal creatine kinase (CK) levels. None of the patients showed liver cirrhosis. Growth velocity and hepatomegaly was improved after the uncooked corn starch treatment was initiated. In the 5 patients, 6 different pathogenic or likely pathogenic mutations in the PHKG2 gene were identified, including one reported mutation (p.E157K) and five novel mutations (p.E56X, p.R185X, c.79_88delinsTCTGGTCG, c.761delC,p.R279C). The p.E157K was the most frequently mutation identified (6/12, 50%). Conclusions The p.E157K mutation is the hot mutation in our small cohort. Main clinical features of our patients include fasting hypoglycemia, impaired liver function,short statures and poor exercise tolerance, without developing liver cirrhosis.

Anti-inflammation, Analgesic and Hemostatic Effects of Veronicastrum sibiricum / 医药导报

Objective To explore the anti-inflammation, pain-relieving and bleeding-stopping effects of Veronicastrum sibiricum and its potential to be a medicinal resource of Radix clematidis.Methods Total of 120 mice were randomly divided into 6 groups, including the Veronicastrum sibiricum water extract (1.5, 1.0, 0.5 g·mL-1) groups, Radix clematidis water extract (1.0 g·mL-1) group, the 0.9% sodium chloride solution group and 2% aspirin solution group.The mouse hot-plate test and writhing test were carried out to evaluate the analgesic effect.The anti-inflammation effect was observed by the xylene-attracted swelling of the mouse's ears.The bleeding time of the breaking mouse's tails was used for studying hemostatic effect.Results The Veronicastrum sibiricum could significantly increase the pain threshold of mice in hot plate.At the same dosage, the Veronicastrum sibiricum reducing the writhing times of mice was similar to Radix clematidis.Auricle swelling inhibition rate was 5.72% higher than Radix clematidis (P<0.05);The mouse tail bleeding time was 7.6% shorter than Radix clematidis (P<0.05).Conclusion The Veronicastrum sibiricum shows similar analgesic effect to Radix clematidis,and more strong hemostatic and anti-inflammation effects than Radix clematidis.

Research on the process control method of active pharmaceutical ingredient in pituitrin / 中国生化药物杂志

Objective A novel Active Pharmaceutical Ingredient (API) pituitrin efficacy component content analysis method was explored, and the method is conformed to the requirements of the pharmaceutical production enterprise testing standard. Methods The reverse phase high performance liquid chromatography (RP-HPLC) was performed on a Zorbax Eclipse XDB-C18(250mm×4.6mm, 5 μm) (P/N 993967-902/ 5063-6600) Column, the column temperature was 25℃, the wavelength of detector was set at 220 nm, flow rate was 1.2 mL/min, 50% Acetonitrile- 0.13mol/L sodium dihydrogen phosphate aqueous solution was used as mobile phase for gradient elution. 20 μL sample solution was injected in each perform. Results The content of oxytocin and vasopressin as pituitrin efficacy components were analyzed by this method with advantage of simple and easy operation, good reliability and high precision. Different biological extraction technology process A and B was used on pituitrin injection production, the content of medicinal ingredients in the product: oxytocin and vasopressin is slightly different, but concentration level is different, which process B concentration is higher than that of A. Conclusion In this study, an effective determination the levels of oxytocin and vasopressin in pituitrin API method was established for a pharmaceutical production enterprise, can provide API pituitrin purification process control. Relevant technical information can be provided in the above, which worked on the biological API pituitrin research and development.

Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy / 中华儿科杂志

Objective@#To investigate the clinical and laboratory features of three children with late-onset type Ⅱ glycogen storage disease(GSD) who presented with hypertrophic cardiomyopathy and to analyze the effect of five mutations identified on the acid-α-glucosidase (GAA) activity and stability.@*Method@#Three cases of children with muscle weakness were included in this study.GAA activity was analyzed in Dried Blood Spot of the patients.DNA was extracted from peripheral blood in all the patients and their parents and subjected to polymerase chain reaction and directly sequencing of GAA gene.Five mutant pcDNA3.1-myc-his-GAA expression plasmids(p.G478R, p.P361L, p.P266S, p.Q323X, p.R672Q) were constructed and transient instantaneously transfected into 293T cells to analyze the enzyme activity and stability of GAA.@*Result@#All the three children had the onset of disease at 3 years or 1.5 years of age.They presented with developmental delay, muscle weakness and hypertrophic cardiomyopathy.GAA activity of 3 patients was 2.65, 3.55 and 1.51 pmol(punch·h)(8.00-98.02)respectively. Genetic analysis found 5 mutations (p.G478R, p. P361L, p. P266S, p. Q323X, p. R672Q), and all of these 3 cases had clinical manifestations and were diagnosed as late-onset type Ⅱ glycogen storage disease.Five mutant pcDNA3.1-myc-his-GAA expression plasmids were transfected into 293T cells.Five mutant enzyme activities were found to be only 9.9%-22.5% of the wild-type enzyme activity and the protein expression of the five mutants was 32.0%-63.9% compared with the wild type.@*Conclusion@#This study reports 3 children with late-onset GSD Ⅱ accompanied by hypertrophic cardiomyopathy and compensatory stage of cardiac function in addition to limb muscle weakness.Five pathogenic mutations were identified, and these 5 mutations result in decreased GAA activity and GAA expression by in vitro functional analysis.

Diagnostic value of MRI in infiltrative renal pelvis carcinoma / 实用放射学杂志

Objective MRI manifestations of infiltrative renal pelvis carcinoma were analyzed and evaluated,to improve its diagnostic accuracy. Methods MRI features of 21 cases of infiltrative renal pelvis carcinoma confirmed pathologically were analyzed retrospectively.All patients underwent plain MRI scan and DWI examination,3 cases underwent PWI examination.Results The center of lesions for all cases were located in the renal collection system,with no change of the renal contour.Most lesions were presented as low signal intensity on T1 WI and slightly low signal intensity on T2 WI,and heterogeneous signal intensity were showed on T1 WI and T2 WI in 5 cases.All lesions were presented as high signal intensity on DWI.After contrast enhancement,mild and moderate enhanced lesions were demonstrated in 3 cases.Renal arteries were wrapped by renal pelvis carcinoma on renal AMRA in 3 cases.4 patients were accompanied with venous tumor thrombus and 1 1 patients with retroperitoneal lymph node metastasis.Adrenal gland metastases were showed in 3 cases.1 case was accompanied with ureter urothelial carcinoma,and 2 cases with bladder carcinomas.Conclusion MRI has a multi-parameter imaging capability and high resolution of soft tissue,and can clearly show the boundary of lesions and surroundings.MRI plays an important role in the diagnosis and differential diagnosis of infiltrative renal pelvis carcinoma.