ObjectiveTo explore the effectiveness and potential mechanism of Shugan Jianpi Granules （疏肝健脾颗粒） combined with Chushi Zhiyang Ointment （除湿止痒软膏） in the treatment of atopic dermatitis with sleep disturbance of liver constraint and spleen deficiency syndrome. MethodsSixty-six patients with atopic dermatitis combined with sleep disturbance of liver constraint and spleen deficiency syndrome were randomly divided into 33 cases each in the treatment group and the control group. Both groups were treated with Chushi Zhiyang Ointment for external use. The treatment group additionally received Shugan Jianpi Granules orally， one dose per day； and the control group received cetirizine hydrochloride tablets orally， 10mg per day， taken before bedtime. Both groups were under the treatment for 4 weeks. Clinical effectiveness was evaluated after treatment， and the SCORing Atopic Dermatitis （SCORAD） index， pruritus visual analog scale （VAS） score， Insomnia Severity Index （ISI） score， and Pittsburgh Sleep Quality Index （PSQI） score were recorded before and after treatment， and serum levels of melatonin （MLT）， interleukin-4 （IL-4）， interleukin-6 （IL-6）， interleukin-13 （IL-13）， and tumor necrosis factor-α （TNF-α） were measured. The patients were also tested for blood routine， liver function and kidney function before and after treatment， and the occurrence of adverse events was also observed. ResultsThe total effective rate in the treatment group （90.63%， 29/32） was significantly higher than that in the control group （66.67%， 20/30， P＜0.05）. After the interventions， the scores for SCORAD， VAS， ISI， and PSQI， as well as the levels of IL-4， IL-6， IL-13， and TNF-α， were significantly reduced in both groups. In contrast， the MLT levels in treatment group significantly elevated compared to that before treatment （P＜0.05）. Comparing between the two groups after treatment， the scores of SCORAD， ISI， PSQI， and VAS， as well as the levels of serum IL-4 and IL-13 in the treatment group were significantly lower than those in the control group， while the MLT levels were markedly higher than that in the control group （P＜0.05 or P＜0.01）. There was no obvious abnormality in blood routine， liver function and kidney function in both groups when compared before and after treatment. The incidence rate of adverse reactions was 9.38% （3/32） in the treatment group and 13.33% （4/30） in the control group， and the difference between groups showed no statistical difference （P＞0.05）. ConclusionOn the basis of topical application of Chushi Zhiyang Ointment， the combined application of Shugan Jianpi Granules can significantly alleviate the degree of skin lesions and itching， and improve the quality of sleep in atopic dermatitis patients with sleep disturbance of liver constraint and spleen deficiency syndrome， and its mechanism may be related to regulating the immune balance， reducing the secretion of inflammatory factors， and elevating the level of MLT.

OBJECTIVE: To explore the clinical characteristics and genetic etiology of three children with Menkes disease. METHODS: Three children who had presented at the Children's Medical Center, the Affiliated Hospital of Guangdong Medical University from January 2020 to July 2022 were selected as the study subjects. Clinical data of the children were reviewed. Genomic DNA was extracted from peripheral blood samples of the children, their parents and sister of child 1. Whole exome sequencing (WES) was carried out. Candidate variants were verified by Sanger sequencing, copy number variation sequencing (CNV-seq), and bioinformatic analysis. RESULTS: Child 1 was a 1-year-and-4-month male, and children 2 and 3 were monozygotic twin males aged 1-year-and-10-month. The clinical manifestations of the three children have included developmental delay and seizures. WES showed that child 1 has harbored a c.3294+1G>A variant of the ATP7A gene. Sanger sequencing confirmed that his parents and sister did not carry the same variant, suggesting that it was de novo. Children 2 and 3 had carried a c.77266650_77267178del copy number variation. CNV-seq results showed that their mother has carried the same variant. By searching the HGMD, OMIM and ClinVar databases, the c.3294+1G>A was known to be pathogenic. No carrier frequency has been recorded in the 1000 Genomes, ESP, ExAC and gnomAD databases. Based on the Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics (ACMG), the ATP7A gene c.3294+1G>A variant was predicted to be pathogenic. The c.77266650_77267178del variant has involved exons 8 to 9 of the ATP7A gene. ClinGen online system score for it was 1.8, which was also considered to be pathogenic. CONCLUSION The c.3294+1G>A and c.77266650_ 77267178del variants of the ATP7A gene probably underlay the Menkes disease in the three children. Above finding has enriched the mutational spectrum of Menkes disease and provided a basis for clinical diagnosis and genetic counseling.
Humans ; Male ; Computational Biology ; Copper-Transporting ATPases/genetics* ; DNA Copy Number Variations ; Exons ; Menkes Kinky Hair Syndrome/genetics* ; Mutation ; Peptide Fragments ; Seizures ; Infant

Objective:To establish a model for predicting the mental health status of nurses based on machine learning algorithm.Methods:In February 2020, the nurses from Shantou Central Hospital and Cancer Hospital of Shantou University Medical College were recruited by convenience sampling, investigated using the Self-reporting Inventory, Coping Style Questionnaire, Social Support Rating Scale and Work Attitude Scale. Mental health status was treated as a dichotomous variable, and candidate predictors were screened out by univariate and multivariate Logistic regression analysis. The subjects were randomly divided into a training set (80%) and a test set (20%). Then five prediction models of nursing staff mental health status were constructed using the five machine learning methods (Logistic Regression, Artificial Neural Network, C5.0 Decision Tree, Bayesian Network and Support Vector Machine), verified and compared to screen out the model with the highest predictive efficiency.Results:A total of 415 nurses were enrolled, and the positive detection rate of mental health symptoms was 20.48%. According to univariate and multiple Logistic regression analysis, candidate predictors were work attitude ( OR=1.098, 95% CI 1.028-1.174), self-accusation ( OR=7.703, 95% CI 2.014-29.468), problem-solving( OR=0.131, 95% CI 0.025-0.686), the number of night shifts per month ( OR=0.204, 95% CI 0.073-0.573)and support availability ( OR=0.830, 95% CI 0.701-0.984). The accuracy of prediction of Logistic Regression, Artificial Neural Network, C5.0 Decision Tree, Bayesian Network and Support Vector Machine were 84.21%, 85.53%, 82.89%, 78.95%, 84.21%. The area under the ROC curve was 0.801, 0.825, 0.777, 0.583, 0.774. Artificial Neural Network was significantly more effective than Logistic regression, C5.0 Decision Tree, Bayesian Network and Support Vector Machine (DeLong test, P<0.05). Conclusions:The machine learning based predictive models for nursing staff mental health status has higher predictive value, which can be applied into nursing staff mental health screening decisions to accurately grasp its dynamic changes, early identification of high-risk mental health abnormalities and early intervention. Work attitude, self-accusation, problem-solving, the number of night shifts per month and support availability was predictors to construct predictive models.

Alzheimer's disease is a common neuro-degenerative disease.The clinical diagnosis mainly depends on the patient's complaint,the score of mini-mental state examination and Montreal cognitive assessment scale,and the comprehensive judgment of MRI and other imaging examinations.Retina is homologous to brain tissue,and their vascular systems have similar physiological characteristics to small blood vessels in the brain.Numerous studies found that the thickness of retinal nerve fiber layer,visual function,retinal blood vessels and retinal oxygen saturation were changed in AD patients to different degrees.To explore the formation mechanism and significance of ocular fundus changes in AD patients will be helpful to select specific,sensitive and simple methods for early observation and evaluation of AD.

Objective: To investigate the incidence and proportion of salivary gland tumors in order to provide new thinking for clinical diagnosis and treatment. Methods: Collected 3 724 cases salivary gland tumors diagnosed by Pathology Department of Hospital of Stomatology, Jilin University from January 1961 to December 2016. The pathological diagnosis referred to the fourth edition of head and neck-salivary gland tumor histopathological classification standard of WHO. The database was established with Microsoft Excel and analyzed with SPSS 18.0. Made a retrospective analysis and comparison on the numbers of all cases in terms of types, site, gender and age and estimate the trend with the time interval of 8 years, and then make a judgement of the trend of salivary tumors. Results: The benign tumors were more common than the malignant among all periods, the proportion of all tumors was about 2.92∶1; The top three benign tumors were polymorphous adenoma [73.78% (2 046/2 773)], Warthin tumor [15.80% (438/2 773)] and base cell adenoma [8.37% (232/2 773)]. Polymorphous adenoma took up 54.94% (2 046/3 724) of all tumors. The top three malignant tumors were mucous epidermoid carcinoma [31.44% (299/951)], adenoid cystic carcinoma [26.92% (256/951)] and adenocarcinoma [11.88% (113/951)]. As for sex, male female ratio was 0.83∶1. As for site, the pathogenic site of tumors was mainly in parotid gland [63.75% (2 374/3 724)], followed by palatal gland [16.50% (615/3 724)], then submandibular gland [12.67% (472/3 724)]; As for age, the common age was between 51 and 60 years old [23.74% (884/3 724)], followed by 41 to 50 years old [21.56%(803/3 724)]. Conclusions The incidence of benign and malignant salivary gland tumor increased in the 56 years. Females showed a higher incidence. The majority tumors occurred in parotid gland. The most common salivary gland tumor was pleomorphic adenoma and the most common malignant tumor was mucous epidermoid carcinoma. The most common age was in 51-60 years old period.

To investigate the incidence of malignant tumors in oral and maxillofacial region and the pathological features of various tumors, a total of 3 382 cases of malignant tumors in oral and maxillofacial region admitted to Jilin University from Januarary 2000 to December 2017. The characteristics of age, sex, location and pathological types of all kinds of tumors were analyzed. The median onset age is 57 years old, 51 to 70 years old is a high-risk age group, the ratio of male to female was 1.9∶1. The primary tumor location is tongue, gingiva and floor of mouth. Epithelial, lymphatic hematopoietic system, bone and soft tissue were the three major sources of tumor tissue, and squamous cell carcinoma was the most common pathological type (65.1%), followed by mucoepidermoid carcinoma and adenoid cystic carcinoma. In summary, oral and maxillofacial malignancies have a high incidence in elderly men, and tongue is the most common site of disease. Epithelial-origin and squamous cell carcinomas are the first of their origins and pathological types, respectively.

Objectve To evaluate the serum level of antimicrobial peptide human cationic antimicrobial protein 18 (hCAP18) in colorectal patients and it auxiliary diagnosis and prognosis value.Methods Case-control study was used.The serum level of hCAP18 was measured by enzyme linked immunosorbent assay(ELISA) in 68 cases with colorectal patients of department of gastrointestinal surgery and 40 cases healthy people of department of physical examination from January 2014 to Junc 2015 in Tongji Hosptial of Tongji University.The concentrations of hCAP18 in serum of colorectal patients before and surgery were analyzed.Immunohistochemistry was used to detect hCAP18 expression in colorectal carcinoma.The effect of hCAP18 on colon carcinoma cell proliferation was detected by BrdU-ELISA and soft agar colony formation assay.The sensitivity and specificity of serum hCAP18 for the diagnosis of eolorectal were evaluated using the receiver operating characteristic curves(ROC).Date was analyzed by using the ttest and one-way analysis of variance.Results hCAP18 serum levels in colon cancer of stage Ⅰ,Ⅱ,llⅢ and Ⅳ patients were (0.46 ± 0.18) mg/L,(0.65 ± 0.45) mg/L,(1.26 ± 0.68) mg/L and (2.35 ± 1.06)mg/L.Mean value was(1.16 ±0.88) mg/L,which was significantly higher than in normal people (0.19 ±0.07) mg/L (t =5.290,P ＜ 0.05).hCAP18 levels had significantly decreased in serum of colorectal patients after 30 d surgery compared to preoperative results [from (1.16 ± 0.88) mg/L to (0.26 ± 0.06) mg/L;t =3.971,P ＜ 0.05].Immunohistochemistry results showed hCAP18 was high expression in colon cancer tissue compared with adjacent tissues;BrdU-ELISA assay results showed HCTll6 and SW480 cell proliferation increased significantly after 0.05-1 mg/L of hCAP18 treatment;Soft agar clone formation experiment proved hCAP18 could significant enhance clone formation of HCT116 and SW480 colon cancer cell lines.The size of clonal cluster of HCT116 was increased from (145.40 ± 35.20) μm to (370.80 ± 32.65) μm (t =10.50,P ＜ 0.05) and SW480 was increased from (101.00 ± 27.10) μm to (369.00 ± 27.29) μm (t =15.58,P ＜0.05);The numbers of clonal cluster of HCT116 was increased from 8.50 ± 2.30 to 42.80 ± 6.60 (t =3.945,P ＜ 0.05) and SW480 was increased from 6.20 ± 1.70 to 46.00 ± 7.20 (t =4.775,P ＜ 0.05).ROC analysis of serum hCAP18 yielded an AUC (area under the ROC curve) of 0.93 (95％ CI =0.859-0.999)with 91.17％ sensitivity and 80.00％ specificity,which was higher than the CEA[0.78 (95％ CI =0.699-0.933)].Conclousions Detection of serum hCAP18 shows a good sensitivity and specificity for the auxiliary diagnosis of colon cancer.It is possible to be potential detection index for noninvasive diagnosis and monitoring progression of colon cancer.hCAP18 could promote the proliferation of colon cancer cells,it played an important role in the progression of colon cancer.

Objective To evaluate the application values of two kinds of single-platform flow cytometric methods,the Volumetric method based on flow sensor and the Trucount method based on Trucount beads,in the counts of T-lymphocyte subsets in peripheral blood of patients after transplantation.Methods The absolute number and percentage of CD4 +,CD8 +,and CD3 + T cells in peripheral blood samples from 107 patients after liver or renal transplantation were determined by the Trucount method and the Volumetric method,respectively,and their results were compared using paired t-test and linear regression analysis.Five samples with low CD3 + counts were selected and the precisions of the absolute number of CD4 +,CD8 + and CD3 + T ceils detected by the Volumetric method were evaluated.Results There was no significant difference in the levels of CD4+,CD4+/CD3+,CD8+,CD8+/CD3+,and CD4+/CD8 + in peripheral blood between the Trucount method and the Volumetric method (P ＞ 0.05),and the linear regression coefficients between them were from 0.9 to 1.1.When the concentration of CD3 + was equal or more than 40/μL,the coefficients of variation (CVs) were below 5.5％ for the Volumetric method.When the concentration of CD3 + was 20/μL,the CVs of CD3 +,CD4 +,and CD8 + were 5.19％,10.28％ and 6.48％,respectively.Conclusion The single-platform method based on flow sensor is accurate and reproducible for counting T-lymphocyte subsets in peripheral blood,which may be used to monitor the immune state of the patients after liver or renal transplantation.

Objective To investigate the changes of serum IL-1β,IL-6 ,TNF-α,NGF and BDNF levels and their correlation with clinical symptoms of schizophrenia inpatiens and their value in the auxiliary diagnosis of schizophrenia .Methods The case-control study was used .The levels of serum IL-1β,IL-6 ,TNF-α,NGF and BDNF were measured by using the enzyme linked immunosorbent assay(ELISA) in 85 inpatients with schizophrenia and 85 healthy controls .Their changes in the case group were compared between before treatment and after 3-month treatment .The Pearson correlation analysis was used to analyze the correlation between the lev-els of IL-1β,IL-6 ,TNF-α,NGF and BDNF with the positive and negative syndrome scale (PANSS) score and the auxiliary diagnosis value of serum cytokine and neurotrophic factor levels were evaluated with the receiver operating characteristic (ROC) curve .Re-sults The levels of serum IL-1β(t=4 .560) ,IL-6(t= 4 .957) and TNF-α(t= 4 .799) before treatment in the schizophrenia case group were significantly higher than those in control group ,while the NGF(t= -4 .806) and BDNF(t= -4 .881) levels were sig-nificantly lower than those in the control group ,the differences were statistically significant (P<0 .01) .After 3-month treatment , the levels of serum IL-1β(t=4 .543) ,IL-6(t=4 .327) and TNF-α(t=4 .654) in the schizophrenia case group were significantly de-creased compared with before treatment ,while the NGF(t= -4 .641) and BDNF(t= -4 .876) levels were significantly increased , the differences were statistically significant (P< 0 .01) .IL-1β was positively correlated with the positive symptoms scores (r=0 .325 ,P<0 .01) ,IL-6 was positively correlated with the negative symptoms scores (r=0 .319 ,P<0 .01) ,TNF-α was positively correlated with the positive symptoms scores (r= 0 .281 ,P< 0 .01) ,NGF was negatively correlated with the positive symptoms scores(r= -0 .229 ,P<0 .05) ,BDNF was negatively correlated with the positive symptoms scores (r= -0 .272 ,P< 0 .05) .The cut-off values of serum IL-1β,IL-6 ,TNF-α,NGF and BDNF in the auxiliary diagnosis of schizophrenia were 40 .083 ,20 .037 ,17 .115 ,19 .998 ,584 .157pg/mL respectively ,the corresponding areas under the ROC were 0 .723 ,0 .772 ,0 .686 ,0 .712 and 0 .708 respectively ,the sensitivities were 0 .565 ,0 .871 ,0 .894 ,0 .859 and 0 .729 respectively ,and the specificities were 0 .871 ,0 .565 ,0 . 365 ,0 .494 and 0 .624 respectively .Conclusion The levels of serum IL-1 ,IL-6 ,TNF-α,NGF and BDNF have the correlation with the clinical symptoms of schizophrenic inpatients and have a certain value in the auxiliary diagnosis of schizophrenia .

Objective To evaluate the serum level of antimicrobial peptide human cationic antimicrobial protein 18 ( hCAP18 ) in non-small cell lung cancer ( NSCLC ) patients and its auxiliary diagnosis and prognosis value.Methods Case-control study was used.The serum level of hCAP18 was measured by enzyme linked immunosorbent assay ( ELISA) in 50 cases with NSCLC patients of department of thoracic surgery and 50 cases healthy people of department of physical examination from January 2011 to January 2012 in Tongji Hospital of Tongji University.The concentrations of hCAP18 in serum of NSCLC patients before and after surgery were analyzed.The sensitivity and specificity of serum hCAP18 for the diagnosis of NSCLC were evaluated using the receiver operating characteristic ( ROC ) curves.Data was analyzed by using the t-test and Log-rank test.Results Serum hCAP18 concentration in NSCLC patients (6 733 ±771.8) μg/L was significantly higher than in healthy controls (253 ±6.9) μg/L (t=8.396, P<0.05) .However, the concentration of hCAP18 showed no significant difference between squamous cell carcinoma and adenocarcinoma[(6 300.0 ±1 221.0) μg/L and (7 074.0 ±1 005.0) μg/L, respectively;t=0.494 2, P <0.05 ] .hCAP18 levels had significantly decreased in serum of NSCLC patients after 30 d surgery compared to preoperative results[from (6 733.0 ±771.8) μg/L to (433.6 ±38.2)μg/L;t=8.512, P<0.05].ROC analysis of serum hCAP18 yielded an AUC (Area under the ROC curve) of 0.931 ( 95% CI =0.884 -0.978 ) with 95% sensitivity and 96.3% specificity, which was higher than the CYFRA21-1[0.873 (95%CI=0.758-0.917)].The relapse rate of NSCLC patients with serum hCAP18≤390.0 μg/L was 12.5%(4/32), while 44.4%(8/18) in NSCLC patients with serum hCAP18>390.0μg/L (χ2 =22.64,P<0.05).Conclusions Detection of serum hCAP18 shows a good sensitivity and specificity for the auxiliary diagnosis of NSCLC. It is possible to be a potential detection index for noninvasive diagnosis and monitoring progression of lung cancer.