Objective:To investigate the effect of upregulated and downregulated PSMA7 on the cell cycle and Cyclin D1,CDK4,P16,Rb of RB pathway in A549 cells.Methods:Transfected upregulated pcDNA3.1-PSMA7 vecter and downregulated pGPU6/Hygro-PSMA7-265 vecter into A549 cells,and then tested the effect of PSMA7 on the cell cycle of A549 cells by flow cytometry,and detected the protein level of Cyclin D1,CDK4,P16,Rb by Western blot.Results:Compared with the control group,the cell cycle of the A549 cells did not change significantly,and the expression of Cyclin D1,CDK4 decreased but P16,Rb increased when PSMA7 was upregulated.Compared with the control group,the proportion of phase G0/G1,G2/M of the A549 cells decreased and phase S increased,and the expression of Cyclin D1,CDK4 increased but P16,Rb decreased when PSMA7 was downregulated.There was statistical significance for those results.Conclusion:PSMA7 could affect the expression of Cyclin D1,CDK4,P16,Rb protein level of RB pathway in A549 and promoted the A549 cells into phase S when it′s downregulated.

Objective To understand the risk factors of neurogenic pulmonary edema in the patients with severe hand foot and mouth disease(HFMD). Methods According to neurogenic pulmonary edema or not ,79 patients with severe HFMD were divided into two groups. The difference was analyzed on the clinical symptoms, signs,the outcomes of laboratory and electroencephalogram (EEG) examination between the two groups. Then the risk factors of neurogenic pulmonary edema was analyzed by logistic regression analysis.Results There were significant differences of the EV71 infection rate,high body temperature,myoclonia,limb weakness,the disability of eyeball regulation,tachycardia, hypertension or hypotension, the extension of capillary filling time, leucocytosist, creatine kinase isoenzyme, hyperglycaemia between two groups. However, there were no significant differences of fever, fever time, vomiting, somnolence, convulsion, limb tremor, c-reactive protein and EEG between two groups. Tachycardia, hypertension or hypotension, hyperglycaemia were significant risk factors for neurogenic pulmonary edema by logistic regression analysis. And hyperglycaemia was the most significant prognostic factor(odd ratio 27. 075, P = 0. 000 2). Conclusion Tachycardia, hypertension or hypotension,hyperglycaemia are the significant risk factors for neurogenic pulmonary edema. It is especially important for hyperglycaemia to predict neurogenic pulmonary edema.

Objective To explore the clinical features of mitochondrial encephalomyopathy lactic acidosis and strokelike episodes (MELAS) syndrome in fratemal twins brothers.Methods The clinical data,the results of laboratory examinations,electroencephalogram (EEG),imaging,and gene detection,and the process of diagnosis and treatment were retrospectively analyzed the fraternal twin brothers with MELAS syndrome.Results The proband,a 7-year-old male,had intermittent headaches,vomit and twitching at onset.He suffered from exercise intolerance,fatigue,accompanied by short stature and hairy.The fasting blood lactic acid level was increased.Multiple video EEG showed the slowdown of background activity.Head MRI showed recurrent lesions with the characteristics of migration and variation.The point mutation rate of mtDNA A3243G was 34.7％.The diagnosis of MELAS was confirmed.At the same time,his fraternal twin brother was screened and found that his point mutation rate of A3243G was 30.0％.Although there was no clinical symptom at that time,he was onset with convulsion after 3 years.Conclusions Gene detection and family screening are helpful for the early diagnosis of MELAS.The mutation rate of A3243G is very high,which can cause an early onset and serious clinical symptoms.

Objective To summarize and analyze the dynamic change of HBsAg levels in patients with chronic Hepatitis B (CHB) after receiving nucleos(t)ide analogues (NAs) as antiviral treatment.Methods Patients who were performed quantitative Hepatitis B surface antigen(qHBsAg) from July 30, 2012 to December 30,2016 in Peking Union Medical College Hospital were retrospectively enrolled.qHBsAg, HBV DNA, HBeAg were collected and analyzed at baseline and at 192-week follow-up every 24 weeks.qHBsAg and HBeAg were assessed with chemiluminesent microparticle immuno assay(CMIA).HBV DNA was assessed with PCR and COBAS Amplicor.Results 60 patients were included.Patients in HBeAg-positive group had higher HBV DNA than that in HBeAg-negative group (P<0.05)at baseline and the two groups both were under detection limit after 48 weeks.BaselineqHBsAg in HBeAg positive-group and negative-group were (3.43±0.73) log10 IU/mL, (3.08±0.47) log10 IU/mL respectively.qHBsAg in HBeAg-positive group was higher than that in HBeAg negative-group on all follow-ups(P<0.05) except 48weeks.However on 168 weeks and 192 weeks, difference between the two groups was statistically significant(P<0.05).In HBeAg-positive group,quantitative HBeAg dropped significantly during antiviral treatment.Conclusions HBV replication can be suppressed in the process of long-term NAs treatment in CHB patients.However qHBsAg decline is not so obvious, which indicates that HBsAg cleavence is difficult,and long-term NAs therapy is still necessary.

Objective To explore the protective effects of a new military functional food NB-5 on psychological stress-induced oxidative stress .Methods Rat whiskers were completely removed to induce the oxidative stress , and the concen-trations of MDA and protein carbonyl in various organs were detected to study the damage to membrane lipid and protein . Rats were fed with NB-5 for 4 weeks, and the oxidative stress was induced by whisker cutting .Biochemical marks men-tioned above were detected to explore the protective effects of NB-5.Results and Conclusion Lipid and protein peroxida-tion occurred in the brain , heart, liver, spleen and kidney after whisker removal due to emotional stress , while the catalase ( CAT) activity decreased significantly in these organs except the spleen .In this experiment model , NB-5 showed a good free radical scavenging activity to reduce the lipid and protein peroxidation among whisker -cutting rats fed with NB-5 in ad-vance.So NB-5 can serve as a good food for soldiers in case of emergency incidents .

Objective To explore the role of pulmonary function analysis in drug efficacy evaluation of radiation-induced lung injury.Methods Totally 30 C57BL/6 mice were randomly divided into 3 groups:control group, radiation group and dexamethasone group.Mice in radiation group and dexamethasone group were irradiated with 20 Gy X-ray on the whole chest.Then mice in dexamethasone group was intraperitoneally injected with dexamethasone at the dose of 4.5 mg/( kg· d) for 2 weeks and then the dose was halved up to 1 month after radiation while control group and radiation group were intraperitoneally injected with 0.9%saline.One month after irradiation, pulmonary function of all the mice was tested with EMKA system.Then mice were sacrificed and pathological changes of pulmonary tissue were observed by HE staining. Furthermore, the area of alveolar cavity was measured with the Image-pro plus software.Results One month after irradiation, the pulmonary function parameters of mice in radiation and dexamethasone groups, such as mid-expiratory flow, minute volume,tidal volume,peak inspiratory flow,and peak expiratory flow,decreased obviously compared with the control group, but those parameters of the dexamethasone group decreased much less significantly than in the radiation group.The pathological changes of pulmonary tissues showed that the area of alveolar cavity of radiation group and dexamethasone group was smaller than that of the control group, but the extent of the loss of alveolar cavity area of the dexamethasone group was less than in the radiation group.Neutrophils infiltration could be found in the radiation group and dexamethasone group, but was less serious in the dexamethasone group.The result of pulmonary function analysis was coincident with pathological changes of the lung.Conclusion Dexamethasone can alleviate radiation induced pulmonary injury.Pulmonary function analysis combined with pathological observation of pulmonary tissues can effectively evaluate the efficacy of drugs in radiation induced lung injury.

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with genetic epilepsy with febrile seizures plus (GEFS+). METHODS: Clinical data of the proband and his family members were collected. Following extraction of genomic DNA, the proband was subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing of the proband and other family members. RESULTS: The pedigree, including 6 patients with febrile seizures from 3 generations, was diagnosed with typical GEFS+. Among them, 2 had febrile seizures (FS), 1 had febrile seizures plus (FS+), and 3 had febrile seizures with focal seizures. High-throughput sequencing revealed that the proband has carried a heterozygous missense variant of c.4522T>A (p.Tyr1508Asn) of the SCN1A gene. Sanger sequencing confirmed that other five patients and one normal member from the pedigree have also carried the same variant, which yielded a penetrance of 85.7%. CONCLUSION The c.4522T>A (p.Tyr1508Asn) of the SCN1A gene probably underlay the disease in this pedigree. The pattern of inheritance was consistent with autosomal dominant inheritance with incomplete penetrance. Above finding has enriched the variant spectrum of the SCN1A gene.
Epilepsy/genetics* ; Humans ; NAV1.1 Voltage-Gated Sodium Channel/genetics* ; Pedigree ; Phenotype ; Seizures, Febrile/genetics*

OBJECTIVE: To explore the clinical features and genetic etiology of a child with Multiple congenital malformations-hypotonia-epilepsy syndrome type 3 (MCAHS3) and provide prenatal diagnosis for her parents. METHODS: A female child who had presented at Linyi People's Hospital on 27 July 2022 for recurrent convulsions for over 4 years was selected as the study subject. Clinical data of the child were collected. Peripheral blood samples were taken from the child and her parents and subjected for whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out on amniotic fluid sample at 18 weeks' gestation. Bioinformatic software was used to analyze the pathogenicity of the protein model for the variant loci. RESULTS: The child was a 4-year-old female with frequent seizures, peculiar facial appearance, hypotonia and severe developmental delay. Genetic analysis revealed that she has harbored compound heterozygous variants of the PIGT gene, namely c.1126del (p.H376Tfs*56) and c.1285G>C (p.E429Q), which were respectively inherited from her mother and father. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.1126del (p.H376Tfs*56) variant was predicted to be pathogenic (PVS1+PM2_Supporting+PM4), and c.1285G>C (p.E429Q) variant was predicted to be likely pathogenic (PM2_Supporting+PM3+PM4). Prenatal diagnosis suggested that the fetus also harbored the same compound heterozygous variants, and the pregnancy was terminated with induced labor. CONCLUSION The c.1126del (p.H376Tfs*56) and c.1285G>C (p.E429Q) compound heterozygous variants of the PIGT gene probably underlay the MCAHS3 in this patient, and prenatal diagnosis has prevented birth of further affected child in this family.
Humans ; Female ; Child ; Pregnancy ; Child, Preschool ; Muscle Hypotonia/genetics* ; Prenatal Diagnosis ; Computational Biology ; Epileptic Syndromes ; Facies

Objective To summarize the successful application experience of intra-hospital transport of 13 H7N9 avian influenza patients from the general wards to the avian influenza ward. Methods Form the expert group, to determine the design target and principle of the standardized workflow and point out the operation points of standard workflow in intra-hospital transport of each link. Results The standardized workflow included the disposal of the transfer notice, condition assessment, department contact,patient preparation,object preparation,custody transfer personnel preparation,transit guardianship and transfer to the avian influenza ward,a total of eight procedures.Between January 2013 and March 2017,13 cases were successfully transfered.All patients safely arrived avian influenza ward. The process was quick and smooth.Nobody was died or rescued within 1 h after transport. Conclusions The main differences of intra-hospital transport between H7N9 avian influenza patients and general critically ill patients are the transit time control, the particularity of terminal disposal, transshipment arrangement and hospital infection management personnel involved in the whole process.

Objective To better understand the infection status of HIV in the patients seeking medical care in Peking Union Medical College Hospital.Methods The HIV detection data of the patients in the hospital from 2003-2014 were collected for a statistical analysis with software SPSS 19.0.Results A total of 715 421 patients were screened,and 1 012 (0.14％) patients were HIV positive,and HIV infection were confirmed in 776 (0.11％) patients by Western Blot testing.The detection rate of HIV infection increased from 0.05％ in 2003 to 0.17％ in 2014 (trend x2=66.83,P=0.000),and the increase during 2012-2014 was obvious.Of the 776 newly diagnosed HIV-infected individuals,631 (81.31％) were men and 145 (18.69％) were women.The percentage of the males infected with HIV increased from 50.00％ to 90.26％ (trend x2=58.41,P=0.000).The median age was 36 years (interquartile range:27-43),and the age group 18-50 years were mostly affected.In the 776 patients infected with HIV,634 (81.70％) were infected through sexual contacts,and the proportion of sexual transmissions increased with year (trend x2=126.38,P=0.000).The proportion of infected men who have sex with men (MSM) increased from 0％ in 2003 to 53.90％ in 2014 (trend X2=11.96,P=0.001),similar to the trend in western countries.The proportion of infected patients who were not married increased from 18.75％ to 42.21％ (trend x2=43.74,P=0.000).The top three source departments of HIV/AIDS cases were internal medicine (51.03％),emergency room (18.30％) and dermatology (13.53％).The proportion of the HIV/AIDS patients from department of gynecology and obstetrics declined from 18.75％ in 2003 to 2.60％ in 2014.No HIV/AIDS patients were detected in department of surgery,department of otorhinolaryngology,department of ophthalmology,department of stomatology and health examination center in 2003,but 14 cases (9.10％),11 cases (7.14％) and 4 cases (2.60％) were detected in these departments respectively in 2014.Conclusion The HIV detection rate increased with year in Peking Union Medical College Hospital,suggesting the necessity of strengthened HIV test in general hospitals.MSM are the population at high risk,to whom more attention should be paid.