[Objective] To study the molecular biological mechanism for a case of ABO blood group B subtype, and perform three-dimensional modeling of the mutant enzyme. [Methods] The ABO phenotype was identified by the tube method and microcolumn gel method; the ABO gene of the proband was detected by sequence-specific primer polymerase chain reaction (PCR-SSP), and the exon 6 and 7 of the ABO gene were sequenced and analyzed. Homologous modeling of Bw.03 glycosyltransferase (GT) was carried out by Modeller and analyzed by PyMOL2.5.0 software. [Results] The weakening B antigen was detected in the proband sample by forward typing, and anti-B antibody was detected by reverse typing. PCR-SSP detection showed B, O gene, and the sequencing results showed c.721 C>T mutation in exon 7 of the B gene, resulting in p. Arg 241 Trp. Compared with the wild type, the structure of Bw.03GT was partially changed, and the intermolecular force analysis showed that the original three hydrogen bonds at 241 position disappeared. [Conclusion] Blood group molecular biology examination is helpful for the accurate identification of ambiguous blood group. Homologous modeling more intuitively shows the key site for the weakening of Bw.03 GT activity. The intermolecular force analysis can explain the root cause of enzyme activity weakening.

Objective:To explore the genetic basis for a patient with unexplained developmental delay and special facial features.Methods:A male patient admitted to the Maternal and Child Health Care Hospital of Gansu Province on May 27, 2021 due to infertility was selected as the study subject. Clinical data of the patient was collected, and genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing.Results:The patient was found to harbor a 2.54 Mb deletion in 1p36.33p36.32 and a heterozygous c. 1123G>C (p.E375Q) variant of the CHD3 gene, neither of which was detected in his parents. Conclusion:The patient was diagnosed with Snijders Blok-Campeau syndrome in conjunct with 1p36 deletion syndrome, which has enabled genetic counseling for his family.

Objective:To explore the molecular basis for an individual with Bel subtype of the ABO blood type due to a novel c. 620T>C variant gene, and assess its impact on the structure of GTB transferase.Methods:An individual who had visited the First Affiliated Hospital of Zhengzhou University on February 11, 2023 was selected as the study subject. ABO phenotyping was initially conducted with serological methods, which was followed by direct sequencing of 7 exons of the ABO gene. Subsequently, single-strand sequencing was carried out by using allele-specific primers, and the variant in the B transferase was homology-modeled using the Modeller software. The impact of the variant on the transferase′s spatial structure was analyzed with the PyMOL software. Results:The serological phenotype of the patient was identified as the Bel subtype. Direct sequencing revealed that she has harbored a novel c. 620T>C variant, resulting in a p. Leu207Pro substitution in the polypeptide chain. Combined with single-strand sequencing, her genotype was ultimately determined as ABO* BELnew/ ABO* O.01.02. Three-dimensional protein structure modeling showed that, compared with the wild type, the distance of one hydrogen bond between Proline and Glycine at position 272 has increased, along with disappearance of another hydrogen bond. Conclusion:The novel c. 620T>C (p.Leu207Pro) variant of B allele may affect the structural stability of the glycosyltransferase. The weakened enzyme activity in turn may lead to reduced B antigen expression, manifesting as the Bel subtype by serological analysis.

Objective To analyze the effect and molecular mechanism of phellodendron amurense in the treatment of liver injury based on network pharmacology,and to verify the relevant prediction targets and the protective effect of phellodendron amurense extract-Phellodendron amurense polysaccharide on immune liver injury through mice.Methods TCMSP and Swiss target prediction databases were used to retrieve and screen phellodendron amurenses active components and action targets,and then obtain disease-related targets on GeneCards and OMIM websites,and take compounds and disease intersection targets for protein interaction.Analysis,GO biological function and KEGG signaling pathway enrichment analysis,followed by molecular docking of compounds and key target proteins,and finally established a mouse liver injury model induced by Daodou protein A(Con A)to explore the mechanism of phellodendron amurense extract in the treatment of liver injury.Results 37 active ingredients were screened.The key targets for their treatment were tumor necrosis factor α(TNF-α),serine/threonine protein kinase 1(AKT1),signal transduction and transcription activation factor 3(STAT3),epidermal growth factor receptor(EGFR)anditin.Enzyme 3(CASP3)and other enrichment analysis showed that phellodendron amurense might play a protective role in protecting the liver through molecular mechanisms such as positive regulation of MAPK cas-cade reaction,oxidative stress response and regulatory PI3K-Akt signaling pathway,lipid and atherosclerosis.Ani-mal experiments had found that the gastric treatment of phellodendron amurense polysaccharide could improve the activity of superoxide dismutase(SOD)and catalase(CAT)in liver tissue,reduce the levels of serum alkaline phosphatase(ALP),aspartate aminotransferase(AST)and malonaldehyde(MDA)in liver tissue,and regulate serum inflammatory factor while the expression of intercitin(IL)-6,IL-1 β,tumor necrosis factor α(TNF-α),ac-tivated the expression of transforming growth factor β1(TGF-β1),and reduced TNF-α mRNA expression in liver tissue.Conclusion Phellodendron amurense can intervene in lipid and atherosclerosis pathways by acting on tar-gets such as TNF-α,AKT1,STAT3,EGFR and CASP3 to reduce oxidative stress and inflammatory reactions and achieve liver protection.

Objective To analyze the differences in the incidence of malignant tumors among urban and rural residents in Shenyang from 2013 to 2018. Methods From 2013 to 2018, the incidence data of malignant tumors of residents with household registration from national cancer surveillance sites in Shenyang urban area and rural Kangping and Faku counties were extracted. Crude incidence rate, age-standardized rate (standardized rate by Chinese population, standardized rate by world population), age specific incidence rate, cumulative incidence rate (0-74 years old), and truncated incidence rate (35-64 years old) were respectively calculated. SPSS23.0 software was used to carry out chi square test for the incidence of disease in urban and rural areas and in different age groups. Joinpoint 3.5.3 software was used to analyze the incidence trend in urban and rural areas. Results From 2013 to 2018, the age-standardized rate of cancer incidence by Chinese population（2000）and the cumulative rate of 0-74 years old in urban residents of Shenyang City were 199.85/105 and 22.21%, respectively, which were higher than those in rural residents, 172.84/105 and 19.85%, respectively. The incidence rate of cancer in males and females in urban area was higher than that in rural areas (χ²=262.47，χ²=103.83, P<0.05). The incidence rates in urban males and females and in rural females all showed an increasing trend in the past 6 years (APC=3.06%, APC=4.03%，APC=3.28% , P<0.05). The top five malignant tumors of urban males were lung cancer, colorectal cancer, liver cancer, gastric cancer and bladder cancer, while the top five malignant tumors of rural males were lung cancer, esophageal cancer, liver cancer, gastric cancer and colorectal cancer, respectively. The top five malignant tumors of urban women were breast cancer, lung cancer, colorectal cancer, thyroid cancer and cervical cancer, while the malignant tumors of rural women were lung cancer, breast cancer, colorectal cancer, cervical cancer and liver cancer, respectively. Conclusion From 2013 to 2018, the incidence of malignant tumor in urban residents in Shenyang is higher than that in rural areas. The incidence rates of urban males and females and rural females have showed an upward trend year by year in the past 6 years. There is a large difference in the order of tumor incidence between urban and rural men and women.

Objective:To explore the application of virtual patient in the reexamination of clinical medical professional masters (hereinafter referred to as "clinical masters"), and to provide reference for the reform of clinical masters reexamination.Methods:The correlation between the clinical thinking scores of 97 candidates (Western medicine) in the reexamination of clinical masters in a university in 2019, the scores of comprehensive ability of clinical medicine (Western medicine) in the initial test and the interview scores in the reexamination was analyzed, and the differences between the clinical thinking scores of current and previous candidates were compared. SPSS 21.0 software was conducted for t test, chi-square test and Pearson correlation analysis. Results:The Person correlation analysis showed that the correlation coefficient between the scores of clinical thinking and the scores of comprehensive clinical medicine (Western medicine) and the scores of interview in the reexamination were 0.09 and -0.05 respectively( P>0.05). At the same time, there was no statistically significant difference between the clinical thinking scores of current and previous candidates ( P >0.05). Conclusion:There was a poor correlation between the scores of clinical thinking and the scores of comprehensive clinical medicine (Western medicine) and the scores of interview in the reexamination. The consideration is concerned with the difference in the purpose of the three assessment forms. It can provide references for other medical colleges to optimize the evaluation content of postgraduate reexamination.

Objective To analyze the incidence and survival trend of malignant tumors in urban residents of Shenyang from 2011 to 2018. Methods The Shenyang tumor registration report system was used to collect the onset data and survival data of patients with malignant tumor from 2011 to 2018.The crude incidence, age-standardized rate, cumulative rate (0-74 years old), truncated rate (35-64 years old), survival rate, and incidence and survival rank were calculated.The observed survival rate was calculated by the life table method.The expected survival rate and relative survival rate were calculated by EdererⅡmethod.Using Joinpoint 3.5.3 software, the annual percentage change in incidence rate and survival rate (APC%) were calculated.SPSS23.0 software was used for the chi square tests of males and females. Results The crude incidence of malignant tumors in Shenyang, age-standardized incidence rates by Chinese standard population and world standard population were 364.70/10 million, 190.00/10 million and 185.63/10 million, respectively.The cumulative rate (0-74 years old) was 21.17%, and the truncated rate (35-64 years old) was 311.66/10 million in the years 2011-2018.The top five incidence rates of males are lung, colorectal, liver, stomach, and bladder cancer, whereas those of females were breast, lung, colorectal, uterine, and thyroid cancer.The incidence rate of malignant tumors increased in 8 years (P=0.00, P=0.67), and the incidence rate was higher in males than that in females (χ²=201.63, P < 0.05).The 5-year survival rate of malignant tumors was 40.49%, and the relative survival rate was 47.84% from 2011 to 2015.The five survival rates of males were in the order of thyroid, kidney, bladder, colon-rectum, and prostate cancer.The five survival rates of females were in the order of thyroid, breast, uterus, cervix, and colon-rectum cancer.The 5-year survival rate showed an upward trend (APC%=7.41, P=0.04).The survival rate of females was higher than that of males (χ²=187.62, P < 0.05). Conclusion The incidence rate and survival rate of malignant tumor in Shenyang urban residents increase yearly from 2011 to 2018.The incidence rate of males is higher than that of females, and the survival rate of males is lower than that of females.The incidence rate and survival rate of tumors differ much in sequence.

Objective: To investigate the effects of clustered warming intervention on spontaneous hypothermia and coagulation function in patients with emergency trauma. Methods: A total of 118 cases of emergency trauma patients admitted from January 2017 to December 2018 in Changzhou Second People′s Hospital were selected as subjects. According to the time of admission, there were 62 cases in the control group from January 2017 to December 2017 and 56 cases in the treatment group from January 2018 to December 2018. The control group used routine emergency nursing intervention and warming measures, and the treatment group combined with clustered warming intervention. The changes of body temperature, coagulation function, spontaneous hypothermia and prognosis were compared between the two groups. Results: When entering the Emergency Department and entering the Emergency Department for 60 minutes, the body temperature of the emergency trauma patients in the treatment group were (36.41±0.75) and (36.74±0.65)℃, and the control group were (35.42±0.80) and (35.54±0.76)℃. The difference between the two groups was statistically significant (t value was 6.914, 9.168, P<0.01). After entering the Emergency Department for 60 minutes, the activated partial thromboplastin time, prothrombin time, and thrombin time in the treatment group were (35.24±2.25), (13.56±1.02), (17.45±1.52) s, and the control group was (39.45±3.42), (15.12±1.34), (19.20±1.23) s. The difference between the two groups was statistically significant (t value was 7.802, 7.058, 6093, P<0.01). The incidence of spontaneous hypothermia and duration of hypothermia in the treatment group were 16.07%(9/56), (7.32±1.14) h, and that in the control group was 41.94%(26/62) and (18.42±3.20) h. The difference between the two groups was statistically significant (χ² value was 9.432, t value was 24.579, P<0.01). The incidence of chills, infection and death in the observation group was 16.07%(9/56), 7.14%(4/56), and 5.36%(3/56), and that in the control group was 51.61%(32/62), 24.19%(15/62), and 17.74%(11/62). The difference between the two groups was statistically significant (χ² value was 16.393, 6.322, 4.316, P< 0.05 or 0.01). Conclusions Clustered warming intervention can help prevent the risk of spontaneous hypothermia in emergency trauma patients, antagonize coagulation dysfunction and improve patient prognosis.

OBJECTIVE: To observe the effect of maltolate aluminum on synaptic plasticity in the hippocampus of rats and to explore the regulatory effect and mechanism of metabotropic glutamate receptor 1(mGluR1). METHODS: Specific pathogen free healthy adult male SD rats were randomly divided into control group, aluminum group, aluminum agonist group and aluminum antagonist group, 8 rats in each group. The rats in the control group received no treatment; the rats in aluminum group were injected with 5 μL 10 mmol/L maltolate aluminum solution into the lateral ventricle; the rats in aluminum agonists and aluminum antagonist group were injected with 3 μL 10 mmol/L maltolate aluminum solution plus 2 μL 0.1 μmol/L mGluR1 agonist or 2 μL 0.2 μmol/L mGluR1 antagonists into the lateral ventricle, respectively.Maltolate aluminum solution was injected every 2 days and continued for 10 days. After maltolate aluminum exposure, the amplitudes of long-term potentiation(LTP) in hippocampal CA1 region of rats were measured, and the relative expression levels of mRNA and protein of mGluR1, N-methyl-D-aspartate receptor(NMDAR1) and protein kinase C(PKC) in hippocampus tissue of rats were detected by real-time fluorescence quantitative polymerase chain reaction and Western blotting. RESULTS: The amplitude of LTP in hippocampal CA1 region in aluminum group and aluminum agonist group was lower than that in the control group and the aluminum antagonist group(P<0.05). Compared with the control group, the relative expression of mGluR1 mRNA and protein in the aluminum group increased, the relative expression of PKC and NMDAR1 mRNA and protein in the aluminum group decreased(P<0.05). Compared with the aluminum group, the relative expression of mGluR1 mRNA and protein in the aluminum agonist group increased, while the NMDAR1 mRNA decreased(P<0.05); the relative expression of mGluR1 mRNA and protein in the aluminum antagonist group decreased, while the NMDAR1 mRNA and protein increased(P<0.05). Compared with the aluminum agonist group, the relative expression of mGluR1 mRNA and protein decreased, while the NMDAR1 mRNA and protein increased in the aluminum antagonist group(P<0.05). The relative expression level of PKC mRNA and protein in aluminum agonist group and aluminum antagonist group was not statistically significant(P>0.05), and there was no statistical significance in these two groups compared with control group and aluminum group(P>0.05). CONCLUSION: Maltolate aluminum exposure can inhibit synaptic plasticity by inhibiting LTP in hippocampus of rats, and the mechanism may be related to the regulation of NMDAR1 expression by mGluR1.

OBJECTIVES: To assess short-term functional outcomes achieved by robot-assisted sacrocolpopexy for pelvic organ prolapse. METHODS: We retrospectively collected clinical and operative data for female patients who underwent either pure laparoscopic sacrocolpopexy (a control group, =20) or robot-assisted laparoscopic sacrocolpopexy (a study group, =20) between December 2017 and December 2018. The clinical indicators included age, gestational age, parity, the stage of pelvic organ prolapse. Perioperative data included operative time and total blood loss. Post-operative outcomes included hospital stay, the time of detaining urethral catheterization, and the restart of anal exhaust after surgery. At the same time, complications and quality of life were observed till 6 months after the surgery. RESULTS: There were no definitely differences in the perioperative data between the 2 groups. It is worth mentioning that robot-assisted laparoscopic sacrocolpopexy was superior in strict operative time. With a follow-up of 6 months, the study group's anatomic repair rate was 100% (20/20), while the control group was 95% (19/20). Pelvic Floor Distress Inventory-short Form 20 (PFDI-20) and Pelvic Floor Impact Questionnaire-short Form 7 (PFIQ-7) were used to evaluate patients' quality of life. There was no significant difference in the scores between the study group and the control group before and 6 months after surgery. Only the data of the PFDI-20 questionnaires at 1 month after operation were statistically significant, and in the control group was larger than that in the study group, showing that robotic surgery can recover faster than laparoscopy, and the quality of life can be improved quickly. CONCLUSIONS Robot-assisted laparoscopic sacrocolpopexy is a safe and reliable technique, faster than laparoscopy in recovery and has a short-term effect.
Female ; Humans ; Laparoscopy ; Pelvic Organ Prolapse ; Quality of Life ; Retrospective Studies ; Robotics ; Treatment Outcome