Clinical and genetic analyses of Joubert syndrome in children / 中国当代儿科杂志

OBJECTIVES@#To study the clinical and genetic features of Joubert syndrome (JS) in children.@*METHODS@#A retrospective analysis was performed on the clinical data, genetic data, and follow-up data of 20 children who were diagnosed with JS in the Department of Children's Rehabilitation, the Third Affiliated Hospital of Zhengzhou University, from January 2017 to July 2022.@*RESULTS@#Among the 20 children with JS, there were 11 boys and 9 girls. The common clinical manifestations were developmental delay (20 children, 100%), abnormal eye movement (19 children, 95%), and hypotonia (16 children, 80%), followed by abnormal respiratory rhythm in 5 children (25%) and unusual facies (including prominent forehead, low-set ears, and triangular mouth) in 3 children (15%), and no limb deformity was observed. All 20 children (100%) had the typical "molar tooth sign" and "midline cleft syndrome" on head images, and 6 children (30%) had abnormal eye examination results. Genetic testing was performed on 7 children and revealed 6 pathogenic genes, i.e., the CPLANE1, RPGRIP1L, MKS1, CC2D2A, CEP120, and AHI1 genes.@*CONCLUSIONS@#For children with developmental delay, especially those with abnormal eye movement and hypotonia, it is recommended to perform a head imaging examination to determine the presence or absence of "molar tooth sign" and "midline cleft syndrome", so as to screen for JS to avoid missed diagnosis and misdiagnosis. There are many pathogenic genes for JS, and whole-exome sequencing can assist in the diagnosis of JS.

Systematic evaluation of Huaier Granules adjuvant treatment of primary liver cancer / 中国中药杂志

To systematically evaluate the efficacy and safety of Huaier Granules in the adjuvant treatment of primary liver cancer. The databases of CNKI, Wanfang, VIP, CBMdisc, PubMed, Cochrane Library and EMbase were searched by computer to screen out the randomized controlled trial on Huaier Granules combined with Western medicine in the treatment of primary liver cancer from the establishment of the databases to January 2020. Data extraction and quality evaluation were conducted for the included literature. Meta-analysis was conducted with RevMan 5.3 software, and evidence quality evaluation was conducted for the outcomes by GRADE profiler software. A total of 24 articles were included, with a total sample size of 2 664 cases. Meta-analysis showed that as compared with Western medicine alone, Huaier Granules combined with Western medicine could improve the objective remission rate(RR=1.38, 95%CI[1.26, 1.51], P<0.000 01), disease control rate(RR=1.29, 95%CI[1.10, 1.52], P=0.002) and 6-month survival rate(RR=1.20, 95%CI[1.10, 1.32], P<0.000 1), 1-year survival rate(RR=1.39, 95%CI[1.23, 1.58], P<0.000 01), 2-year survival rate(RR=1.95, 95%CI[1.28, 2.96], P=0.002), KPS score(MD=17.15, 95%CI[6.47, 27.83], P=0.002) and the improvement rate of KPS score(RR=2.02, 95%CI[1.47, 2.77], P<0.000 1), AFP decline rate(RR=1.40, 95%CI[1.20, 1.62], P<0.000 1), CD3~+(MD=17.34, 95%CI[9.28, 25.40], P<0.000 1), CD4~+(MD=8.62, 95%CI[1.59, 15.64], P=0.02), CD8~+(MD=1.95, 95%CI[-3.93, 7.82], P=0.52), CD4~+/CD8~+(MD=0.42, 95%CI[-0.33, 1.17], P=0.27); reduce the level of AFP(MD=-71.57, 95%CI[-80.42,-62.72], P<0.000 01), recurrence rate(RR=0.76, 95%CI[0.67, 0.85], P<0.000 01), and incidence of adverse reactions(RR=0.60, 95%CI[0.41, 0.89], P=0.01) in patients with primary liver cancer. According to the GRADE system, the evidence for outcome measures was low to very low. The results show that Huaier Granules have certain efficacy and high safety in adjuvant treatment of primary liver cancer, but its effect in reducing adverse reactions and improve immunity remains to be verified. Due to the poor quality of the included studies and evidences, the conclusions still need to be further verified by multi-center, large sample, and randomized double-blind controlled studies.

Network Meta-analysis of oral Chinese patent medicine for adjuvant treatment of primary liver cancer / 中国中药杂志

Network Meta-analysis was used to evaluate the efficacy and safety of different oral Chinese patent medicines combined with transcatheter arterial chemoembolization(TACE) in the treatment of primary liver cancer. Randomized controlled trials of oral Chinese patent medicines for primary liver cancer were retrieved from CNKI, Wanfang, VIP, SinoMed, PubMed, Cochrane Library and EMbase databases from inception to May 2020. According to the Cochrane recommendation standard, the quality of the included articles was evaluated, and the data were analyzed by RevMan, R software and GeMTC software. A total of 10 kinds of oral Chinese patent medicines and 68 RCTs were included. Network Meta-analysis results showed that: as compared with TACE alone, 10 kinds of oral Chinese patent medicines combined with TACE showed advantages in effective rate, 1-year survival rate, 2-year survival rate, KPS score improvement rate and reduced adverse reaction incidence. In the pairwise comparison of oral Chinese patent medicines, the results showed that Cidan Capsules were superior to Jinlong Capsules and Xihuang Pills in 1-year survival rate. According to the probabi-lity ranking results: Shenyi Capsules and Ganfule were more obvious in improving the effective rate; Cidan Capsules and Shenyi Capsules were more effective in improving the 1-year survival rate; Pingxiao Capsules and Shenyi Capsules had better efficacy in improving 2-year survival rate; Huaier Granules and Shenyi Capsules had better efficacy in improving the quality of life; Huisheng Oral Liquid and Ganfule were more effective in reducing the incidence of adverse reactions(such as nausea, vomiting and leukocytosis). The current evidence showed that oral Chinese patent medicine combined with TACE was superior to TACE alone in efficacy and safety. In terms of the effective rate, 1-year survival rate, 2-year survival rate, KPS score improvement rate and reduced adverse reaction incidence, the optimal treatment measures were Shenyi Capsules, Cidan Capsules, Pingxiao Capsules, Huaier Granules and Huisheng Oral Liquid in turn. However, due to the limitations of the research, the current level of evidence is not high, and clear conclusions and evi-dence strength still need to be further verified and improved by high-quality researches.

Clinical effectiveness of Subjective Global Nutritional Assessment in hospitalized children with cerebral palsy / 中国当代儿科杂志

OBJECTIVE@#To investigate the nutritional status of children with cerebral palsy (CP) and the clinical effectiveness of Subjective Global Nutritional Assessment (SGNA) in nutritional assessment of hospitalized children with CP.@*METHODS@#A total of 208 children with CP, aged 1-5 years, who were hospitalized from April to October 2019 were enrolled as subjects. SGNA was used to investigate nutritional status, and the Z-score method recommended by the World Health Organization was used as a reference standard to validate the clinical effectiveness of SGNA.@*RESULTS@#The detection rate of malnutrition in children with CP was 42.3% by SGNA and 39.4% by the Z-score method (P>0.05). The application of SGNA showed high consistency between different evaluators (κ=0.621, P<0.001). With the Z-score method as the reference standard, SGNA had a sensitivity of 80.5%, a specificity of 82.5%, a positive predictive value of 75.0%, and a negative predictive value of 86.7%, and high consistency was observed between the two evaluation methods (κ=0.622, P<0.001). SGNA was moderately consistent with weight-for-age Z-score and height-for-age Z-score (κ=0.495 and 0.478 respectively, P<0.001) and was poorly consistent with weight-for-height Z-score (κ=0.197, P<0.05).@*CONCLUSIONS@#There is a relatively high incidence rate of malnutrition in children with CP. SGNA can be used as a tool to assess the nutritional status of children with CP.

Fine Particulate Matter-Induced Exacerbation of Allergic Asthma via Activation of T-cell Immunoglobulin and Mucin Domain 1 / 中华医学杂志(英文版)

<p><b>Background</b>Fine particulate matter (PM) exacerbates airway inflammation and hyperreactivity in patients with asthma, but the mechanism remains unclear. The aim of this study was to observe the effects of prolonged exposure to high concentrations of PMon the pathology and airway hyperresponsiveness (AHR) of BALB/c mice undergoing sensitization and challenge with ovalbumin (OVA) and to observe the effects of apoptosis and T-cell immunoglobulin and mucin domain 1 (TIM-1) in this process.</p><p><b>Methods</b>Forty female BALB/c mice were divided into four groups: control group, OVA group, OVA/PM group, and PM group (n = 10 in each group). Mice in the control group were exposed to filtered clean air. Mice in the OVA group were sensitized and challenged with OVA. Mice in the OVA/PM group were sensitized and challenged as in the OVA group and then exposed to PMfor 4 h per day and 5 days per week for a total of 8 weeks using a nose-only "PMonline enrichment system" in The Second Hospital of Hebei Medical University. Mice in the PM group were exposed to the PM online enrichment system only. AHR was detected. Bronchoalveolar lavage fluid (BALF) was collected for cell classification. The levels of interleukin-4 (IL-4), IL-5, and IL-33 in BALF were measured using enzyme-linked immunosorbent assay. Changes in histological structures were examined by light microscopy, and changes in ultramicrostructures were detected by electron microscopy. Apoptosis was determined by terminal deoxynucleotidyl transferase-mediated dUTP nick end-labeling (TUNEL) assay in the lung tissues. Western blotting and immunohistochemistry were utilized to analyze the expression of Bcl-2, Bax, and TIM-1 in the lungs.</p><p><b>Results</b>The results showed that AHR in the OVA/PM group was significantly more severe than that in the OVA and PM groups (P < 0.05). AHR in the PM group was also considerably more severe than that in the control group (P < 0.05). The BALF of OVA/PM group (28.00 ± 6.08 vs. 12.33 ± 4.51, t = 4.631, P = 0.002) and PM group (29.00 ± 3.00 vs. 12.33 ± 4.51, t = 4.927, P = 0.001) had more lymphocytes than the BALF of the control group. The number of neutrophils in the BALF of the OVA/PM group (6.67 ± 1.53 vs. 3.33 ± 1.53, t = 2.886, P = 0.020) and PM group (6.67 ± 1.53 vs. 3.33 ± 1.53, t = 2.886, P = 0.020) was much higher than those in the BALF of OVA group (P < 0.05). TUNEL assays showed that the number of apoptotic cells in the OVA/PM group was significantly higher than that in the OVA group (Tunel immunohistochemical scores [IHS%], 1.20 ± 0.18 vs. 0.51 ± 0.03, t = 8.094, P < 0.001) and PM group (Tunel IHS%, 1.20 ± 0.18 vs. 0.51 ± 0.09, t = 8.094, P < 0.001), and that the number of apoptotic cells in the PM group was significantly higher than that in the control group (Tunel IHS%, 0.51 ± 0.09 vs. 0.26 ± 0.03, t = 2.894, P = 0.020). The concentrations of IL-4 (77.44 ± 11.19 vs. 48.02 ± 10.02 pg/ml, t = 4.595, P = 0.002) and IL-5 (15.65 ± 1.19 vs. 12.35 ± 0.95 pg/ml, t = 3.806, P = 0.005) and the Bax/Bcl-2 ratio (1.51 ± 0.18 vs. 0.48 ± 0.10, t = 9.654, P < 0.001) and TIM-1/β-actin ratio (0.78 ± 0.11 vs. 0.40 ± 0.06, t = 6.818, P < 0.001) in the OVA/PM group were increased compared to those in the OVA group. The concentrations of IL-4 (77.44 ± 11.19 vs. 41.47 ± 3.40 pg/ml, t = 5.617, P = 0.001) and IL-5 (15.65 ± 1.19 vs. 10.99 ± 1.40 pg/ml, t = 5.374, P = 0.001) and the Bax/Bcl-2 ratio (1.51 ± 0.18 vs. 0.97 ± 0.16, t = 5.000, P = 0.001) and TIM-1/β-actin ratio (0.78 ± 0.11 vs. 0.31 ± 0.06, t = 8.545, P < 0.001) in the OVA/PM group were increased compared to those in the PM group. The concentration of IL-4 (41.47 ± 3.40 vs. 25.46 ± 2.98 pg/ml, t = 2.501, P = 0.037) and the Bax/Bcl-2 ratio (0.97 ± 0.16 vs. 0.18 ± 0.03, t = 7.439, P < 0.001) and TIM-1/β-actin ratio (0.31 ± 0.06 vs. 0.02 ± 0.01, t = 5.109, P = 0.001) in the PM group were also higher than those in the control group.</p><p><b>Conclusions</b>Exacerbated AHR associated with allergic asthma caused by PMis related to increased apoptosis and TIM-1 activation. These data might provide insights into therapeutic targets for the treatment of acute exacerbations of asthma induced by PM.</p>

Prospective study of ketogenic diet in treatment of children with global developmental delay / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the effect of ketogenic diet (KD) on neurobehavioral development, emotional and social behaviors, and life ability in children with global developmental delay (GDD).</p><p><b>METHODS</b>A prospective case-control study was performed for hospitalized children with GDD, who were randomly divided into KD treatment group (n=40) and conventional treatment group (n=37). The children in both groups were given comprehensive rehabilitation training, and those in the KD treatment group were given modified Atkins diet in addition to the comprehensive rehabilitation training. The children in both groups were assessed with the Gesell Developmental Scale, Chinese version of Urban Infant-Toddler Social and Emotional Assessment (CITSEA)/Achenbach Child Behavior Checklist (CBCL), and Infants-Junior High School Students' Social Life Abilities Scale (S-M scale) before treatment and after 3, 6, and 9 months of treatment. The two groups were compared in terms of the improvements in neurobehavioral development, emotional and social behaviors, and social life ability.</p><p><b>RESULTS</b>After 3, 6, and 9 months of treatment, the KD treatment group had significantly greater improvements in the scores of the adaptive, fine motor, and language quotients of the Gesell Developmental Scale compared with the conventional treatment group (P<0.05); the KD treatment group had significantly greater improvements in CITSEA/CBCL scores than the conventional treatment group (P<0.05). The KD treatment group had a greater improvement in the score of the S-M scale after 9 months of treatment (P<0.05). During the KD treatment, 6 children experienced diarrhea and 1 experienced mild urinary stones.</p><p><b>CONCLUSIONS</b>KD can improve the neurobehavioral development and behavioral and emotional behaviors in children with GDD, and it has few adverse effects.</p>

Combined effects of indomethacin and oxaliplatin on lymph node metastasis related factors in human lung cancer xenografts in nude mice

To investigate the combined effects of indomethacin and oxaliplatin on expressions of epidermal growth factor receptor [EGFR], E-cadherin [E-cad], intercellular adhesion molecule-1 [ICAM-1] and CD44v6 related to lymph node metastasis of human lung cancer cell lines. Human lung adenocarcinoma A549 cells were inoculated subcutaneously into the left armpit of nude mice to establish human lung cancer xenografts. The mice were randomly divided into control group, indomethacin group, oxaliplatin group and combination therapy group, which were treated with sterile distilled water, indomethacin, oxaliplatin and indomethacin combined with oxaliplatin, respectively. After 42 days, the mice were sacrificed. The immunohistochemistry and reverse transcription polymerase chain reaction were used to detect the expressions of EGFR, E-cad, ICAM-1 and CD44v6 in tumor tissues. Compared to control group, the protein and mRNA expressions of EGFR, ICAM-1 and CD44v6 in the indomethacin, oxaliplatin, and combination therapy groups were significantly reduced [P<0.05] and the protein and mRNA expressions of E-cad expression were significantly increased [P<0.05]. Compared to indomethacin group and oxaliplatin group, the protein and mRNA expressions of EGFR, ICAM-1 and CD44v6 in combination therapy groups were significantly reduced [P<0.05], and the protein and mRNA expressions of E-cad expression were significantly increased [P<0.05]. There was no significant difference between indomethacin and oxaliplatin groups. Indomethacin and oxaliplatin have synergistic effect on expressions of lymph node metastasis related factors in lung cancer cell lines

Effect of botulinum toxin A injection in the treatment of gastrocnemius spasticity in children aged 9-36 months with cerebral palsy: a prospective study / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the long-term clinical efficacy and adverse effects of botulinum toxin-A (BTX-A) injection in the treatment of gastrocnemius spasticity in children aged 9-36 months with cerebral palsy.</p><p><b>METHODS</b>Eighty children aged 9-36 months with cerebral palsy and gastrocnemius spasticity were selected and randomly divided into a BTX-A injection group and a conventional treatment group (n=40 each). The children in the BTX-A injection group received injections of BTX-A guided by color Doppler ultrasound and 4 courses of rehabilitation training after injection. Those in the conventional treatment group received 4 courses of the same rehabilitation training alone. Before treatment and at 1, 2, 3, and 6 months after treatment, the modified Tardieu scale (MTS) was applied to assess the degree of gastrocnemius spasticity, the values in the passive state measured by surface electromyography (sEMG) were applied to evaluate muscle tension, and the Gross Motor Function Measure (GMFM) was used to evaluate gross motor function.</p><p><b>RESULTS</b>Compared with the conventional treatment group, the BTX-A injection group had significantly greater reductions in MTS score and the values in the passive state measured by sEMG (P<0.05), as well as significantly greater increases in joint angles R1 and R2 in MTS and gross motor score in GMFM (P<0.05). No serious adverse reactions related to BTX-A injection were found.</p><p><b>CONCLUSIONS</b>BTX-A injection is effective and safe in the treatment of gastrocnemius spasticity in children aged 9-36 months with cerebral palsy.</p>

Psoriasis complicated with venous thromboembolism: report of two cases and a literature review / 中华医学杂志(英文版)

Cases of psoriasis complicated with venous thromboembolism are rarely reported. Here, we report two cases and review the current literature on the subject. Two patients with long-standing severe psoriasis presented with chest pain, shortness of breath and breathing difficulties. The patients were diagnosed using lung ventilation-perfusion scans or computed tomographic pulmonary angiography. Anticoagulation or thrombolytic therapy was initiated, and long-term continuous anticoagulation with warfarin prevented any recurrences.

To Explore Value of Continuous Quality Improvement in Quality Control of Disinfection Supply Center / 中华医院感染学杂志

OBJECTIVE To explore the value of the continuous quality improvement(CQI) in the quality control of disinfection supply center.METHODS The CQI was applied to every aspect of disinfection supply center.We analyzed and identified the reason of the existence of quality problems,and took CQI measures and the implementaion of quality improvement.RESULTS After 5 years CQI,quality control of disinfection supply center had been remarkably improved.The harmony had increased among staff year by year.The professional knowledge rose from 60% to 100%,the rate of monitoring raised from 70% to 100%,the pass rate of sterilized package raised from 55% to 95%,the satisfaction rate of the relevant sections raised from 85% to 100%.The errors and accidents were eliminated or reduced owing to pay attention to quality control.CONCLUSIONS CQI plays an important role on medical service safety and can effectively improve the medical safety,medical quality and service quality.

Characteristics of mental health services at 325 general hospitals in Beijing / 中华预防医学杂志

<p><b>OBJECTIVE</b>Describe the mental health services provided at different types of general hospitals in Beijing.</p><p><b>METHODS</b>Distribute the "Hospital Mental Health Services Survey" to all 508 hospitals in the 18 Beijing districts; the survey covers information for 2001 on the type of mental health services provided, the characteristics of the service providers, the number and diagnoses of first-visit mental health patients, and the prescription of psychotropic medications.</p><p><b>RESULTS</b>73% (373/508) of the hospitals completed the survey, including 75% (325/436) of the general hospitals. Among the 325 general hospitals, 171 (53%) provided one or more types of mental health services; they had a total of 420 staff members who provide these services, but their educational level was relatively low and mental health training limited. 61 general hospitals had mental health outpatient departments that treated 50% (47,151/93,891) of all first-visit mental health patients seen in all hospitals (including psychiatric hospitals) in the municipality; 90% (42,578/47,151) of these first-visit patients in general hospitals were seen at 18 level-3 hospitals. Among the 44,441 first-visit patients for whom diagnostic information was available, the main diagnoses were neurosis (43%) and depression (30%). 103 of the participating general hospitals prescribed 73% of antidepressant medications prescribed at all hospitals in the municipality and 97% of all fluoxetine (Prozac and others).</p><p><b>CONCLUSIONS</b>General hospitals-particularly level-1 and level-2 general hospitals-need to put more emphasis on mental health services, increase training of staff who provide the services and open relevant departments. Monitoring the development of mental health services in general hospitals and increasing the quality of their mental health services will require periodic assessment of the types and range of mental health services provided and of the diagnostic accuracy and treatment standards of the staff providing these services.</p>

Evaluation on the accuracy of reported suicides in the Chinese population / 中华流行病学杂志

<p><b>OBJECTIVE</b>To evaluate the accuracy of reports of suicide in the national death registry systems and to estimate a more accurate suicide rate.</p><p><b>METHODS</b>Twenty-three sites from the Disease Surveillance Points Network-one of the national death registry systems-were selected and 1 932 of the deaths that occurred at these sites from August 1995 through August 2000 in which the official cause was classified as "accidental" or "mental illness" were selected for detailed household surveys focusing on reassessing the cause of death. Valid interviews were completed in 1 653 of these cases. The original cause of death recorded on the death certificate was compared with the finding of the detailed household survey and the result was used to adjust the suicide rate.</p><p><b>RESULTS</b>After detailed investigation, 16 of the 857 (1.87%) deaths reported on the death certificate as suicide were considered accidental deaths, 39 of the 721 (5.41%) accidental deaths were considered suicide, 17 of the 35 (48.57%) cases reported as undetermined accidents were considered suicide, and 6 of the 40 (15.00%) cases in which mental illness was the recorded cause of death were considered suicide. After adjustments for errors in the reported cause of death and for missing deaths, the reported crude suicide rate of 13.65/100 000 in China was adjusted to 22.99/100 000 (95% CI: 21.78/100 000 - 24.25/100 000).</p><p><b>CONCLUSION</b>After adjustments the actual suicide rate for China was higher than the reported rate indicating that suicide was an increasingly important public health problem for China.</p>