Objective To investigate the relationship between the expressions of proliferating cell nuclear antigen (PCNA), p53 and Bcl-2 protein and clinical chemothreapy, prognosis in bone marrow cells in children with acute leukemia (AL). Methods Immunohistochemical SP method was used to detect the expressions of PCNA, p53 and Bcl-2 in specimens of bone marrow puncture of 59 children with AL and 15 healthy children as control. Results There was a significant difference in the expressions of PCNA, p53 and Bcl-2 proteins between the initially treated patients and healthy subjects, and between the remission patients and non remission ones. There was not a significnat difference in PCNA expression between the refractory patients and healthy subjects, and PCNA expression was related to the chemotherapeutic sensitivity. There was a significant difference in the 6-week remission rate between the patients with and without PCNA expression, but there was no significant difference in the over 3 years survival rate without illness. The expression levels of Bcl-2 and p53 were significantly higher in the refractory patients than those in healthy subjects. The patients with the high expression of p53 and Bcl-2 were resistant to chemotherapy, low in the remission rate and poor in prognosis. Conclusion The AL patients with PCNA expression were higher in remission rate, and PCNA expression was not associated with long-term prognosis. The AL patients with the expression of p53 and Bcl-2 were lower in remission rate, and their expression was associated with long-term prognosis. Both p53 and Bcl-2 protein may serve as a molecular marker to predict chemotherapeutic sensitivity and prognosis. PCNA, p53 and Bcl-2 may be involved in the pathogenesis of child AL by various ways. It is more valuable for predicting prognosis to simultaneously detect the expression of PCNA, p53 and Bcl-2 proteins.

Objective To investigate the relationship between negative acute phase proteins and chronic urticaria (CU).Methods Fifty patients with CU were enrolled into this study,and divided into three grades,i.e.,mild (grade 1),moderate (grade 2) and severe (grade 3) according to symptoms.Twenty-eight health checkup examinees served as the control group.Immunoturbidimetry was performed to determine serum levels of prealbumin (PA) and transferrin (TRF).Enzyme-linked immunosorbent assay was conducted to measure serum levels of insulinlike growth factor-1 (IGF-1) and tumor necrosis factor-α (TNF-α).Statistical analysis was carried out to assess differences in these indices between these two groups,the relationship among these indices and between these indices and disease severity.Results Compared with the control group,the patients with CU showed reduced serum levels of PA ((229.99 ± 54.16) vs.(272.06 ± 36.42) mg/L,t =3.667,P ＜ 0.05) and IGF-1 ((177.23 ± 46.48) vs.(239.88 ± 45.16) μg/L,t =5.748,P＜ 0.05),but higher serum levels of TNF-α ((25.39 ± 11.01) vs.(14.13 ± 6.12) ng/L,t =4.989,P＜ 0.05),and similar serum levels of TRF ((2.48 ± 0.49) vs.(2.48 ± 0.25) g/L,P＞ 0.05).The serum level of PA showed a significant negative correlation with that of TNF-α (r =-0.312,P ＜ 0.05),as well as with disease severity (r =-0.635,P ＜ 0.01),whereas the serum level of TNF-α showed a significant positive correlation with disease severity (r =0.409,P ＜ 0.01),and no statistical correlation was found between the remaining indices (all P ＞ 0.05) in the patients with CU.Conclusions Serum levels of some negative acute phase proteins decrease and negatively correlate with disease severity in patients with CU.Acute phase response may be involved in the occurrence of CU.

Objective To explore the substantial results of using comprehensive practical teaching mode and holistic nursing thinking method in the course of teaching fundamentals of nursing science,and then improve the vocational quality and ability of nursing students.Methods Randomly determined two classes as objectives: experiment class and control class.control class was adopt traditional practical teaching mode,experiment class was adopt comprehensive practical teaching mode in small community.Results Ability of standard operation,communication and knowledge were significant higher in experiment class than those of in control class.Conclusions Comprehensive practical teaching mode in small community has actual significance for strengthen the comprehendsive ability of nursing students.

Objective:Bioinformatics was used to analyze the gene expression profile of renal chromophobe cell carcinoma (RCCC) to find out the key genes of RCCC.Methods:Chromophobe renal cell carcinoma gene chip data GSE15641 and GSE11151 were downloaded from the GEO database. Using R software packages such as " Affy" and " limma" in R software to screen differentially expressed genes, combining with David and STRING online bioinformatics tools to analyze the regulatory network of differentially expressed genes and construct protein-protein interaction (PPI) network, the Hub gene was screened through the Cytohubba plug-in of Cytoscape software.Results:A total of 261 differentially expressed genes were screened, including 194 down-regulated genes and 67 up-regulated genes. Gene enrichment (GO) analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis were performed to explore their biological functions. In GO enrichment analysis, biological processes were mainly enriched in cell secretion, gluconeogenesis and cell proliferation regulation; in cell composition, they were mainly enriched in exosomes, plasma membranes and their components; in molecular function, they were mainly enriched in heparin binding; in KEGG pathway analysis, they were mainly enriched in metabolic pathway, antibody biosynthesis pathway and renin angiotensin system pathway. PPI network was constructed by using online bioinformatics tools. The top 10 Hub genes were screened by using cytohubba plug-in in Cytoscape software, which were pipecolic acid and sarcosine oxidase (PIPOX), hydroxyacid oxidase 2 (HAO2), kynurenine 3-monooxygenase (KMO), solute carrier family 2 member 2 (SLC2A2), formimidoyltransferase cyclodeaminase (FTCD), angiogenin (ANG), APOBEC1 complementation factor (A1CF), aldehyde dehydrogenase 8 family member A1 (ALDH8A1), vitamin D binding protein (GC), histidine rich glycoprotein (HRG).Conclusions:Bioinformatics analysis of differentially expressed genes in renal chromophobe cell carcinoma can effectively explore the interaction information of these differentially expressed genes, and provide new ideas for the treatment of renal chromophobe cell carcinoma.

Objective To evaluate the correlation between the degree of cochlea endolymphatic hydrops(EH) and hearing loss and symptoms in patients with unilateral Meniere's disease. Methods Fifty seven patients with unilateral Meniere's patients were retrospectively quantitatively analyzed, which evaluated the correlation between the cochlea EH and hearing loss and symptoms. The affected ears in the experimental group(57 ears) and the asymptomatic ears in the control group(57 ears), were confirmed by bilateral intratympanic Gd-DTPA injection and 3D real IR MRI scan after 24 h. The maximum length of endolymph space and labyrinth chamber along the modiolus cochleae and their ratio which represented the endolymph space proportion of each turn(R1, the basal turn;R2, the middle turn;R3, the apical turn) were calculated. And the paired t test was used to compare the differences in EH degree between the experimental and control group;Pearson correlation analysis was used to analyze the correlation between the cochlea EH degree and hearing loss and duration of symptoms. Results R1, R1 and R3 of ipsilateral cochlea were higher than normal cochlea(ipsilateral R1:0.354±0.097 vs. normal R1:0.185±0.031, P<0.01;ipsilateral R2:0.445 ± 0.098 vs. normal R2:0.201 ± 0.046, P<0.01;ipsilateral R3:0.467 ± 0.102 vs. normal R3:0.221 ± 0.053, P<0.01). A positive correlation was found between the degree of EH in each turn and high-frequency hearing loss(r=0.275, 0.281, 0.329, respectively;all P<0.05), whereas no correlation was found between the extent of EH and the time of vertigo, tinnitus and hearing loss(P>0.05). In addition, there was a correlation between the degree of EH in the apical turn and low, medium, high-frequency hearing loss(r=0.271, 0.269, 0.329, respectively; all P<0.05). Conclusions The degree of cochlea EH in the basal and second turn showed great relevance with the high-frequency hearing loss, and the apical turn EH degree was relevant with the low, medium, high-frequency hearing loss, but there was no correlation between the EH degree of each turn, ages and symptoms.

OBJECTIVE: To explore the clinical characteristics and genetic basis of a child with Mental retardation autosomal dominant 51 (MRD51). METHODS: A child with MRD51 who was hospitalized at Guangzhou Women and Children's Medical Center on March 4, 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 5-year-and-3-month-old girl, had manifested autism spectrum disorder (ASD), mental retardation (MR), recurrent febrile convulsions and facial dysmorphism. WES revealed that she has harbored a novel heterozygous variant of c.142G>T (p.Glu48Ter) in the KMT5B gene. Sanger sequencing confirmed that neither of her parents has carried the same variant. The variant has not been recorded in the ClinVar, OMIM and HGMD, ESP, ExAC and 1000 Genomes databases. Analysis with online software including Mutation Taster, GERP++ and CADD indicated it to be pathogenic. Prediction with SWISS-MODEL online software suggested that the variant may have a significant impact on the structure of KMT5B protein. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic. CONCLUSION The c.142G>T (p.Glu48Ter) variant of the KMT5B gene probably underlay the MRD51 in this child. Above finding has expanded the spectrum of KMT5B gene mutations and provided a reference for clinical diagnosis and genetic counseling for this family.
Humans ; Female ; Child, Preschool ; Intellectual Disability/genetics* ; Autism Spectrum Disorder/genetics* ; Mutation

Objective To discuss the clinical effect of facial contour remodeling using transplantation of the autologous granular fat grafting combined with botulinum toxin A injection.Methods Negative-pressure liposuction was carried out in the inner thigh or abdomen using liposuction needle connected with an injector,to let stand for layered,discharge lower layer water,rinse,extract the fat particles into a 2 ml syringe,inject into facial depression area with multipoint,multiple-tunnel,and multilayer manner,over injection of about 20％-30％ every time.89 patients received the injection;some accepted two injections;13 cases were injected in temple (14.6％),and 16 in forehead (17.98％).30 of them received subcutaneous injection of botulinum toxin A,each side dose was less than 20 U.Results Patients had been followed up for 3-36 months,and obvious improvements were observed in facial contour in the frontal and temporal region as well as the skin texture;the survival rate of fat granule reached to 60％-80％.No hematoma,nodes and infection been observed.Patients combined with botulinum toxin A injection had more ideal facial contour and more satisfaction.Conclusions Autologous fat granules transplantation in the face has stable clinical effect,and combining with botulinum toxin A injection can improve facial contour.It is a safe,ideal treatment in facial rejuvenation and facial contour remodeling and it therefore can be widely recommended in clinical treatment.

Objective:To compare the detection rate of genital Chlamydia trachomatis (CT) DNA between urine and urethral/cervical swab samples. Methods:From December 2018 to December 2019, a total of 1 475 outpatients were collected from sexually transmitted disease clinics in 7 medical institutions, such as Department of Venereology, Guangzhou Institute of Dermatology, including 1 118 males and 357 females. One urethral/cervical swab sample and one urine sample were collected successively from each patient. Real-time fluorescence-based PCR was performed to detect CT DNA in urine and urethral/cervical swab samples, and paired chi-square test was used to compare the positive rate of CT DNA between the 2 kinds of samples. Random- or fixed-effect meta-analysis was conducted for the test of heterogeneity and merging of positive rates of CT DNA in the urine and urethral/cervical swabs among 7 medical institutions.Results:The positive rate of CT DNA in the urine samples was significantly higher than that in the swab samples from 4 medical institutions (all P < 0.05) , while there was no significant difference in the positive rate of CT DNA between the 2 kinds of samples from 3 medical institutions (all P > 0.05) . The heterogeneity ( I2) estimates of the CT-DNA positive rate in urine and swab samples among different medical institutions were 78.6% (95% CI: 55.9% - 89.6%) and 73.7% (95% CI: 43.7% - 87.7%) , respectively; meta-analysis showed that the total merged positive rate of CT DNA in the urine samples was 10.8% (95% CI: 7.2% - 15.9%) , which was significantly higher than that in the swab samples (7.8%, 95% CI: 4.9% - 12.1%; χ2 = 39.2, P < 0.05) . Compared with the swab sample-based CT-DNA detection method, the sensitivity, specificity, positive predictive value, negative predictive value and consistency rate of the urine sample-based CT-DNA detection method were 97.0% (128/132) , 96.3% (1 293/1 343) , 71.9% (128/178) , 99.7% (1 293/1 297) , and 96.3% (1 421/1 475) , respectively. The positive rate of CT DNA in the urine samples from 1 118 male patients was 11.0% (95% CI: 7.2% - 16.5%) , which was significantly higher than that in the swab samples (7.6%, 95% CI: 4.9% - 11.8%; χ2 = 34.3, P < 0.05) . There was no significant difference in the positive rate of CT DNA between the urine (11.9%, 95% CI: 7.7% - 17.9%) and cervical swab samples from 357 female patients (10.4%, 95% CI: 7.6% - 14.0%; χ2 = 3.2, P > 0.05) . Conclusions:The positive rate of CT DNA in urine samples is higher than or similar to that in urethral/cervical swab samples. The urine sample-based CT-DNA detection method has characteristics of convenience, non-invasiveness, painlessness and low cost, and is worthy of clinical promotion.

Primary biliary cholangitis (PBC) is a chronic cholestatic liver disease, and may progress to cirrhosis and associated with complications of end-stage liver disease. The immunological characteristic of PBC is the presence of anti-mitochondrial autoantibodies (AMAs), and some anti-nuclear antibodies (ANAs) have high specificity for the diagnosis of PBC. In recent years, it has been found that anti-gp210, anti-sp100 and anti-centromere antibodies are correlated with the severity of PBC, treatment response to ursodeoxycholic acid (UDCA) and poor prognosis. However, correlation between AMAs and disease progression of PBC is still in controversial. This article reviewed the progress in research on the influence of autoantibodies on biochemical response and prognosis of PBC.

Objective:To survey treatment and prognosis of hyperkalemia patients in the emergency department and to analyze factors associated with all-cause in-hospital mortality.Methods:We implemented electronic hospital information system, extracted demographic characteristics, underlying diseases, laboratory findings, potassium lowering therapy and prognosis of hyperkalemia patients [age ≥ 18 years, serum potassium (K +) concentration ≥ 5.5 mmol/L] in the emergency department of Peking Union hospital in Beijing between June 1st 2019 to May 31st 2020. The enrolled subjects were divided into the non-survival group and the survival group according to their prognosis. Univariate analysis and Cox regression model were adopted to analyze factors affecting all-cause in-hospital mortality of hyperkalemia patients. Results:A total of 579 patients [median age 64 (22) years; 310 men (53.5%) and 269 women (46.5%)] with hyperkalemia were enrolled, among which, 317 (54.7%), 143 (24.7%) and 119 (20.6%) were mild, moderate, and severe hyperkalemia, respectively. 499 (86.20%) patients received potassium-lowering therapy, forty-four treatment regimens were administered. Insulin and glucose (I+G, 61.3%), diuretics (Diu, 57.2%), sodium bicarbonate (SB, 41.9%) and calcium gluconate/chloride (CA, 44.4%) were commonly used for the treatment of hyperkalemiain the emergency department. The combination of insulin and glucose, calcium gluconate/chloride, diuretics and sodium bicarbonate (I+G+CA+Diu+SB) was the most favored combined treatment regimen of hyperkalemia in the emergency department. The higher serum potassium concentration, the higher proportion of administrating combined treatment regimen and/or hemodialysis (HD) (the proportion of administrating combined treatment regimen in mild, moderate, and severe hyperkalemia patients were 58.4%, 82.5% and 94.8%; the proportion of administrating HD in mild, moderate, and severe hyperkalemia patients were 9.7%, 13.3% and 16.0%, respectively). The proportion of achievement of normokalaemia elevated as the kinds of potassium lowering treatment included in the combined treatment regimen increased. The proportion of achievement of normokalaemia was 100% in the combined treatment regimen including 6 kinds of potassium lowering therapy. Among various potassium lowering treatments, HD contributed to the highest rate of achievement of normokalaemia (93.8%). 111 of 579 (19.20%) hyperkalemia patients died in hospital. Cox regression model revealed that complicated with cardiac dysfunction predicted higher mortality [hazard ratio ( HR) = 1.757, 95% confidence interval (95% CI) was 1.155-2.672, P = 0.009]. Achievement of normokalaemia and administration of diuretics attributed to lower mortality ( HR = 0.248, 95% CI was 0.155-0.398, P = 0.000; HR = 0.335, 95% CI was 0.211-0.531, P = 0.000, respectively). Conclusions:Treatment of hyperkalemia in the emergency department were various. Complicated with cardiac dysfunction were associated with higher mortality. Achieving normokalaemia was associated with decreased mortality.