OBJECTIVE: To explore the clinical phenotype and genetic basis of a neonate with Au-Kline syndrome (AKS). METHODS: Clinical data and result of genetic testing of a neonate with AKS who was admitted to the Affiliated Provincial Children's Hospital of Anhui Medical University in January 2021 were retrospectively analyzed. Relevant literature was searched from the Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure and PubMed databases using key words "Au Kline syndrome", "Au-Kline syndrome", "HNRNPK" and "AKS". The research period was set as from January 1, 2000 to December 31, 2020. RESULTS: The male newborn has manifested feeding difficulties, hypotonia, absence of the upper jaw to the uvula and facial dysmorphism. Trio-whole exome sequencing revealed that he has harbored a frameshift c.478dupA (p.Ile160AsnfsTer7) variant of the HNRNPK gene, which was varified by Sanger sequencing to have a de novo origin. The variant has not been included in the databases. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting). Literature retrieval has identified 14 children with AKS and de novo mutations of the HNRNPK gene. Their clinical manifestations have included growth and motor retardation, various degree of mental retardation, facial dysmorphism and a high frequency of congenital heart malformations. CONCLUSION The AKS in this child may be attributed to the c478dupA frameshifting variant of the HNRNPK gene. Diagnosis of AKS should be suspected for children with mental retardation and multiple congenital malformation syndromes including Kabuki syndrome.
Humans ; Male ; Abnormalities, Multiple/genetics* ; Genetic Testing ; Heterogeneous-Nuclear Ribonucleoprotein K/genetics* ; Intellectual Disability/genetics* ; Mutation ; Retrospective Studies ; Infant, Newborn

Objective To explore the effects and influencing factors of traditional occupational health training on occupational health literacy (OHL) of employees in micro-, small- and medium-sized enterprises. Methods A total of 540 employees from 154 micro-, small- and medium-sized enterprises, who participated (347 employees) and not-participated (193 employees) in traditional occupational health training, and 171 community residents/students (not-participated in occupational health training) were selected as the research subjects using the convenient sampling method. The OHL level was investigated using Occupational Health Literacy Questionnaire of National Key Populations. Results The overall OHL level of employees was 43.3% (234/540). Among them, the overall OHL level of untrained and trained employees was 38.9% and 45.8%, respectively, and the overall OHL level of community residents/students was 43.3%. The results of multivariate logistic regression analysis showed that the higher the educational level, the higher the OHL level (all P<0.01). The OHL level of untrained and trained employees was higher than that of untrained community residents/students (all P<0.05). The interaction of education level and training status had no statistical difference on the OHL level of the research subjects (P>0.05). The results of factorial design analysis of variance showed that the overall OHL score rate of untrained employees and trained employees was higher than that of untrained community residents/students (all P<0.05). However, there was no significant difference in overall OHL score rate between untrained and trained employees (P>0.05). Conclusion The role of traditional occupational health training in improving the OHL level of employees in micro-, small- and medium-sized enterprises needs to be improved. The responsibility of enterprise occupational health training should be implemented, and multiple measures should be taken to enrich the ways and approaches of occupational health education for enterprise employees, to effectively improve the OHL of workers.

Objective Meta-analysis was used to evaluate the effect of the solution-focused brief therapy on im-proving the anxiety and depression status of patients with HIV/AIDS.Methods Computer search of PubMed,Embase,Web of Science,Cochrane Library,CINAHL,PsycINFO,Chinese Biomedical Literature Database,China Na-tional Knowledge Infrastructure,Wanfang Database,CQVIP were conducted,and the search time frame was from the establishment of databases until April 9,2023.There were 2 investigators who independently screened the literature according to inclusion and exclusion criteria,extracted data and performed quality evaluation,and performed Meta-analysis using RevMan 5.4 software.Results A total of 11 publications were included,including 9 randomized controlled trials and 2 quasi-experimental studies,with a total of 1 219 patients with HIV/AIDS.Meta-analysis re-sults showed that solution-focused brief therapy reduced anxiety scores(SMD=-1.89;95%CI:-2.79～-0.99,P＜0.001),depression scores(SMD=-2.45;95%CI:-3.51～-1.39,P＜0.001).Subgroup analysis showed that improved anxiety(SMD=-4.16;95%CI:-7.97～-0.35,P＜0.001),depression(SMD=-5.69;95%CI:-11.20～-0.19,P＜0.001)in pregnant HIV/AIDS patients was significantly better than that in ordinary patients.Conclusion Solution-focused brief therapy is effective in improving anxiety and depression levels in patients with HIV/AIDS,and the application of this model in pregnant patients with HIV/AIDS has a more significant improvement effect,but high-quality,multicenter,large-sample clinical trial studies are needed to further confirm this conclusion in the future.

Objective To investigate the clinical effect of mifepristone and misoprostol combined with hysteroscopic resection of endometrial uterine incision cesarean scar pregnancy.Methods A retrospective study was conducted to analyze 135 cases of scar pregnancy of endogenous lower uterine cesarean section from January 2015 to October 2017.According to the treatment methods,they were divided into group A (mifepristone and misoprostol combined with hysteroscopy),group B (methotrexate combined with hysteroscopy),group C (Uterine artery embolization + curettage).Each group had 45 cases,and the therapeutic effects of the three methods were compared.Results There was no significant difference in gestational sac size and serum human chorionic gonadotropin [beta-human chorionic gonadotropin (HCG)] levels among the three groups before operation (P ＞ 0.05).After operation,the operation time,intraoperative bleeding volume,serum beta-HCG dropping to normal time,vaginal bleeding time and hospitalization time in A and C group were significantly lower than that in B group (P ＞ 0.05).There was no significant difference between group A and group C in operation time,serum beta-HCG to normal time,vaginal bleeding time and hospitalization time.(P ＞ 0.05).The menstruation time of group A was significantly shorter than that of group B and group C (P ＜0.05).The effective rates of group A,B and C were 100.00％,97.78％ and 100.00％ respectively,with no significant difference in the three groups (P ＞ 0.05);The complication rates of A,B and C groups were 2.22％,13.33％ and 4.44％ respectively,with no significant difference in the three groups (P ＞ 0.05).Conclusions The three methods are effective in the treatment of cesarean scar pregnancy.The mifepristone and misoprostol combined with hysteroscopy have the advantages of less operative trauma and faster postoperative recovery.

Objective To investigate the effects of 5-aza-2'-deoxycytidine (5-Aza-dC) alone or combined with trichostatin A(TSA) on cell proliferation, promoter methylation and mRNA expression level of PDX-1 gene in pancreatic β cells induced by high glucose toxicity. Method NIT-1 cells were treated in vitro by high glucose (33.3 mmol/L), then divided into five groups, control group, HG grpup, 5-Aza-dC treatment group, TSA interfere group and 5-Aza-dC + TSA group. Proliferation of NIT-1 cells, insulin secretion, promoter methylation and mRNA expression of PDX-1 gene were detected respectively. Results 5-Aza-dC and TSA alone or in combination could promote cell proliferation and recover insulin secretion in NIT-1 cells , could also reduce PDX-1 gene methylation and enhance expression of PDX-1 mRNA. Compared with single-treatment group , combined group was significantly different (all P < 0.05). Conclusion 5-Aza-dC and TSA could activate the expression of PDX-1 and, then recover insulin secretion in NIT-1 cells induced by high glucose. Combination of them had synergistic effect.

Objective To confirm the main pathway of chemokine-chemokine receptor which mediates the accumulation of regulatory T cell ( Treg) in pancreatic cancer .Methods The concentrations of protein of FOXP3 and chemokines of CCL2, CCL3, CCL5, CCL17, CXCL8 in human and mouse pancreatic cancer and adjacent normal pancreatic tissue were measured by the method of enzyme-linked immunosorbent assay (ELISA).The receptor of chemokine CCL5 (CCR5) in human and mouse pancreatic cancer were determined by the immunofluorescent stain .Results The concentration of FOXP 3 protein in human pancreatic cancer and adjacent normal pancreatic tissue as (487.5 ±534.1) and (162.6 ±42.0) pg/mg, respectively, while they were (84.6 ±54.1) and (14.4 ±7.6) pg/mg, respectively in mouse.The concentration of FOXP3 protein were significantly higher in pancreatic cancer than those in adjacent normal pancreatic tissue .The concentration of CCL2 in human pancreatic cancer and adjacent normal pancreatic tissue as (76.9 ±37.5), (40.8 ±25.5) pg/mg, and the concentration of CCL3 as (38.0 ±22.6), (21.3 ±16.5) pg/mg, and the concentration of CCL5 were (390.2 ±158.5), (59.1 ±22.8) pg/mg, and the concentration of CCL17 as (7.2 ±2.0), (4.1 ±2.4)pg/mg, and the concentration of CXCL8 as (9.3 ±5.5), (6.3 ±5.2)pg/mg.The concentration of CCL2, CCL5, CCL17 in pancreatic cancer was significantly higher than those in adjacent normal pancreatic tissue (P<0.05).The concentration of CCL2 in mouse pancreatic cancer and adjacent normal pancreatic tissue as (77.9 ±30.5), (43.6 ±16.6) pg/mg, and the concentration of CCL3 was (27.4 ±18.2), (14.0 ±4.5)pg/mg, and the concentration of CCL5 was (302.2 ±55.8), (64.5 ±30.3) pg/mg; and the concentration of CCL17 was (4.4 ±1.4), (2.2 ±1.0)pg/mg;and the concentration of CXCL8 was (55.1 ± 55.1), ( 93.4 ±7.3 ) pg/mg.The concentration of CCL2, CCL5, CCL17 in pancreatic cancer were significantly higher than those in adjacent normal pancreatic tissue , and the difference between the two groups was statistically significant (P<0.05).The level of FOXP3 in pancreatic cancer was positively correlated with the concentration of chemokine CCL 5 both in human and mouse pancreatic cancer .Immunofluorescent staining indicated that the FOXP3 +cells also expressed CCR5.Conclusions The CCL5-CCR5 is the main chemokine-chemokine receptor pathway mediating the accumulation of Treg cells in pancreatic cancer .

Objective To explore the relationship between HBV-DNA load and the offspring vertical transmission of HBV.Methods 138 families who had taken the examination between August 2009 and November 2011 but the HBsAg of the housewife was negative,were chosen as research objects.Blood from the couples and sperms from the husbands during pregnancy were followed and collected for detection on related indicators.Cord blood was sampled after delivery for HBVM and HBV-DNA quantification.Those with HBV-DNA load ≥5 × 102 copies/ml were chosen as cases while those ＜5 × 102 copies/ml were formed as controls,respectively.Results 1) The positive rates of HBV-DNA was 34.8％ (48/138) in the neonatal cord blood while the positive rates of cord blood HBsAg and HBeAg were 28.3％ (39/138) and 15.2％ (21/138) respectively.2) The positive rate of semen HBV-DNA was 21.0％ (29/138) while the positive rates of paternal serum HBV-DNA and HBeAg were 76.8％ (106/138)and 42.8％ (59/138).3)Among the positive ones on paternal serum HBV-DNA,paternal serum HBeAg,semen HBV-DNA,items as measures taken for HBV vertical transmission and prevention on the fathers and the first class family histories on HBV appeared to be the risk factors for HBV paternal transmission (P＜0.05).4)Data from Multivariate analysis showed that positivities on patemal serum HBV-DNA,paternal serum HBeAg and semen HBV-DNA were risk factors for HBV paternal transmission (OR=5.7,95％CI:1.1-29.1 ; OR=4.2,95％CI:1.7-10.0; OR=6.7,95％ CI:2.4-18.9).5)Dose-response relationships were seen between levels of paternal serum HBV-DNA load and cord blood HBV-DNA load,between levels of paternal serum HBV-DNA load and semen HBV-DNA load,between levels of semen HBV-DNA load and cord blood HBV-DNA load.6)Results from the analysis on ROC curve showed that paternal serum HBV-DNA load level (105 copies/ml) and semen HBV-DNA load level (103 copies/ml)were better demarcation points to forecast the occurrence of paternal transmission of HBV,because of the better sensitivity and specificity they had.Conclusion Items as positives on paternal serum HBV-DNA,paternal serum HBeAg and semen HBV-DNA were risk factors for HBV paternal transmission.When paternal serum HBV-DNA load ＞ 105 copies/ml and semen HBV-DNA load ＞ 103 copies/ml appeared,the positive rate of HBV paternal transmission would increase.

Objective To study the granulocyte colony stimulating factor ( G-CSF ) and granulocyte macro-phage colony stimulating factor ( GM-CSF) in complete remission of acute myeloid leukemia ( AML) patients with den-dritic cells(DC)changes in the function and its subsets .Methods 36 cases of complete remission according to AML patients were randomly divided into 3 groups,G group was given G-CSF 200g/d,subcutaneous injection ,GM group were given GM-CSF 200g/d,subcutaneous injection ,the control group were injected with normal saline .The curative effects were compared.Results The expression of G in group DC,CD83 and CD86 on surface of CD80 were lower than that in GM group and C group (t=4.34,5.43,4.54,4.54,5.25,3.54,all P<0.05),GM group,DC expression of CD11c was higher than that of G group and C group (t=4.54,4.27,all P<0.05).G group and GM group DC in promoting lymphocyte proliferation were higher than those in C group (t=4.54,5.64,all P<0.05);group GM DC to promote the ability of CD4 +T lymphocyte proliferation was higher than that of G group (t=3.54,P<0.05).ELISA assay,GM group DC secretion of IL-12 than that of group G and C group;group G DC secretion of IL-10 was higher than that of GM group and C group (t=3.54.4.23,4.32,3.87,all P<0.05).Conclusion G-CSF and GM-CSF can make the complete remission in patients with AML subgroup DC shift ,the bias of G-CSF DC2 and certain immuno-suppressive effect ,while GM-CSF DC subsets of DC 1 and promotes cell immune deviation .

Objective To explore whether the stimulation effect of high phosphate on hyperplasia of human parathyroid cells and hyperparathyroidism through local cyclooxygenase 2 (COX2) up-regulation pathway. Methods Parathyroid glands were collected from 19 uremic patients undergoing parathyroidectomy.Expressions of COX1,COX2 and proliferative cell nuclear antigen (PCNA) of the glands were detected by immunohistochemistry.Primary parathyroid cells were cultured and treated with high or normal phosphate for 48 hours.Then expressions of COX2 and PCNA were detected by Western blotting and real-time PCR. Results Among 62 glands from above 19 patients,43 glands were nodular hyperplasia and 19 diffuse hyperplasia.Both high expressions of COX2 and PCNA were found in these blands.Expression of COX2 was found in both oxyphil and chief cells and was more in the diffuse hyperplasia glands than that in the nodular hyperplasia (P＜0.05).80.60％ and 85.20％ of COX2 positive cells in diffuse hyperplasia glands and nodular hyperplasia also expressed PCNA. High phosphate could stimulate iPTH secretion in vitro (P＜0.05).Expressions of COX2 and PCNA were higher in high phosphate group.(P＜0.05). Conclusion High phosphate may stimulate the hyperplasia of parathyroid cells by up-regulating the local COX2 expression.

Objective To observe the changes of renin-angiotensin system (RAS) in cultured mesangial cells by serum from 3/4 nephrectomized rats feeding with low protein diet and α-keto acid. Methods Thirty male SD rats received 3/4 nephrectomy (Nx) were placed on 18%normal protein diet (NPD,n=10),6% low protein diet(LPD,n=10) or 5% low protein plus 1%α-keto acid diet (LK,n=10) flor 12 weeks.Ten male SD sham-operated rats fed with 18% normal protein diet were used as control (sham group).In addition,mesangial cells were cultured in sera (10%) collected from above animals treated with or without losartan (0.02 mmol/L)for 48 hours.ELISA was applied to detect the level of Ang II,TGF-β1 and fibronectin (FN) in cell medium.Westem blotting was used to determine the protein level of ATI receptor (AT1R)and real-time PCR was used to detect the mRNA level of AT1R,TGF-β1 and FN. Results (1) Nutritional indices including body weight,total protein and albumin had no significant difference in each group. (2) Serum creatinine and 24 h pruteinuria were significantly inceased in nephrectomized groups compared to sham group(P<0.05,respectively).24 h proteinuria was greatly lower in LK group than that in NPD and LPD groups(P<0.05,respectively).(3)LK greatly decteased the level of Ang II[NPD(12.70±0.12)mg/g protein;sham(8.04±0.62)mg/g protein]in supernatant as well as the protein and mRNA expression of AT1R in cultured mesangial cells (P<0.05).(4)NPD serum directly induced higher secretion[FN:sham(20.58±0.46)g/g protein,NPD (39.84±0.06)g/g protein;TGF-β1:sham(10.12±O.56)mg/g protein,NPD(83.85±3.58)mg/g protein] and mRNA expression of FN and TGF-β1 compared with sham group (P<0.05).LPD decreased these increment (P<0.05) and LK showed stronger inhibitory effect (P<0.05). (5)Losartan application sharply reduced FN and TGF-β1 production both in supematant and in mRNA expression in NPD serum treated cells (P<0.05,respectively). Conclusion Low protein diet with α-keto acids supplement directly inhibits the RAS in mesangial cells which may contribute to its beneficial effect on the kidney.