Analysis of risk factors impacting antiplatelet medication adherence following stenting for atherosclerosis obliterans and development of prediction model / 中国实用护理杂志

Objective:To explore the risk factors of antiplatelet drug compliance after stent implantation in patients with lower extremity arteriosclerosis obliterans, and to construct an online prediction model tool.Methods:Retrospective analysis of the clinical data of patients with lower extremity arteriosclerosis obliterans who received lower extremity arterial stent implantation in Department of Vascular Surgery, Provincial Hospital Affiliated to Shangdong First Medical University from January 2019 to January 2021 was carried out. 90 patients with poor compliance and 90 patients with good compliance were selected into the observation group and the control group, respectively. Univariate analysis was used to screen the influencing factors of antiplatelet drug compliance, and the variables with statistical significance were substituted into the binary Logistic regression to carry out independent risk factor test to screen the risk factors of cross-over antiplatelet drug compliance and establish the prediction model.Results:Married ( OR = 0.316, 95% CI 0.135-0.738), number of follow-up visits during the follow-up period ( OR = 0.866, 95% CI 0.760-0.987), the amount of medication ( OR = 0.755, 95% CI 0.654-0.919) were the protective factors for the compliance of antiplatelet drugs in patients with lower extremity arteriosclerosis obliterans after stent implantation. Advanced age ( OR = 1.136, 95% CI 1.066-1.211), male ( OR = 3.727, 95% CI 1.533-9.060), junior high school and below education level ( OR = 4.949, 95% CI 1.501-16.313), the average monthly income less than 3 000 yuan ( OR = 15.774, 95% CI 4.487-55.495) and the monthly expenditure on medicine more than 500 yuan ( OR = 15.323, 95% CI 3.527-66.569) were the risk factors for the compliance of antiplatelet drugs in patients with lower extremity arteriosclerosis obliterans after stent implantation. The consistency index of this prediction model was 0.895, the area under the ROC curve was 0.875. Conclusion:The antiplatelet medication adherence prediction model established has high accuracy and good clinical application values.

Effect of electroacupuncture at different time points on the recovery of gastrointestinal function after surgery for gastrointestinal malignant neoplasms / 针灸推拿医学（英文版）

Objective: To observe the effect of electroacupuncture (EA) at different time points during the perioperative period on the recovery of gastrointestinal function after gastrointestinal malignant neoplasms surgery. Methods: Sixty-three patients who needed radical surgery for gastrointestinal tumors were randomized into a control group, treatment group 1 (postoperative EA group), and treatment group 2 (intraoperative and postoperative EA group). The control group received surgery and conventional Western medicine treatment, and treatment groups 1 and 2 received additional EA treatment at different time points. The initial flatus time after the surgery, visual analog scale (VAS) score at different time points after the surgery, the proportion of using patient-controlled analgesia (PCA) after the surgery, and the times of adding analgesics were observed in the three groups. Results: The initial flatus time after the surgery was earlier in treatment groups 1 and 2 than in the control group (P<0.05); the difference between treatment groups 1 and 2 was statistically insignificant (P>0.05). The VAS score was lower in treatment group 2 than in the control group at 6, 12, 24, and 72 h after the surgery (P<0.05); the VAS score was lower in treatment group 1 than in the control group only at 72 h after the surgery (P<0.05). There were no significant differences in the rate of using PCA among the three groups (P>0.05). Regarding the times of adding analgesics, it was less in treatment group 2 than in the control group at 12 h after the surgery (P<0.05). Conclusion: Either EA during and after the surgery or only after the surgery can hasten the initial flatus and boost the recovery of gastrointestinal function in patients after radical resection of gastrointestinal neoplasms. Successive EA during and after the surgery should be superior to postoperative EA regarding the analgesic effect after the surgery.

Protective role of expression of human complement regulatory protein hCD55 in islet xenotransplantation / 器官移植

Objective To validate whether the expression of human cluster of differentiation 55 (hCD55) protein in porcine islet cells could inhibit the activation of complement components in human serum. Methods Four adult pigs with WT (wild type), GTKO [α-1, 3-galactosyltransferase (GGTA1) knockout], GTKO/hCD55 and hCD55 genotypes were selected. Islet cells were isolated from WT, GTKO and GTKO/hCD55 pigs, and the purity and insulin secretion function were detected. The expression of hCD55 at the DNA, RNA and protein levels was analyzed by agarose gel electrophoresis, reverse transcription polymerase chain reaction (RT-PCR) and flow cytometry, respectively. Complement-dependent cytotoxicity assay and complement deposition assay were performed under the incubation conditions with fresh human serum. Results The purity of isolated porcine islet cells from three genotype pigs was > 75%, and the glycemic index was > 1. The expression of hCD55 messenger RNA(mRNA) and protein in GTKO/hCD55 porcine islet cells decreased the deposition of human complement component C3c and membrane-attacking complex C5b-9, and reduced the cytotoxicity. Conclusions The expression of hCD55 protein in porcine islet cells could inhibit the activation of human complement and reduce complement-mediated killing effect, indicating that hCD55 protein could exert complement protection effect on porcine islet cells. These findings provide theoretical basis for the application of hCD55 in islet xenotransplantation.

Clinical Characteristics and Prognosis of Acute Myeloid Leukemia Patients with inv(16)/t(16;16)(p13.1;q22) and/or CBFβ-MYH11 / 中国实验血液学杂志

OBJECTIVE@#To summarize the clinical and laboratory characteristics of patients with acute myeloid leukemia (AML) with inv(16)/t(16;16) (p13.1;q22), and to analyze the risk factors affecting the prognosis of the patients.@*METHODS@#AML patients with inv(16)/t(16;16) (p13.1;q22) and/or CBFβ-MYH11+ admitted to the Department of Hematology, The First Affiliated Hospital of Soochow University from January 1, 2008 to October 30, 2019 were retrospective analyzed, the clinical and laboratory indicators, as well as treatment plans and efficacy evaluations of the patients were all recorded. Furthermore, related factors affecting the overall survival (OS) and event-free survival (EFS) of the patients were analyzed.@*RESULTS@#Among 151 AML patients with inv(16)/t(16;16) (p13.1;q22) and/or CBFβ-MYH11+, the percentage of additional chromosomal abnormalities was about 27.8%, and the most common additional chromosomal abnormality was +22 (33/151, 21.8%), followed by +8 (11/151, 7.3%). There were 112 patients with perfect NGS examination, and the result showed the most common accompanying gene mutations were KIT mutation (34/112, 30.4%) and FLT3 mutation (23/112, 20.5%). Univariate analysis showed that factors affecting EFS included: NE≤0.5×109/L (P=0.006) and combined K-RAS mutation (P=0.002); Factors affecting OS included: Age≥50 years old (P<0.001) and NE≤0.5×109/L (P=0.016). Multivariate analysis showed that NE≤0.5×109/L (P=0.019) was the risk factors affecting OS. The proportion of bone marrow eosinophilia (BME)≥10.00% (P=0.029) was the risk factors affecting EFS.@*CONCLUSION@#The prognosis for those newly diagnosed AML patients who were of advanced age, the high proportion of bone marrow eosinophils, K-RAS mutations, and agranulocytosis is poor. The treatment plans can be adjusted in the early stage to improve the prognosis of such patients.

Identification, biological characteristics, and fungicide screening of pathogen of black spot in Aconitum carmichaelii / 中国中药杂志

In Hezhang county, Guizhou province, black spot tends to occur to Aconitum carmichaelii in the hot rainy summer, with the incidence up to 50%-70%, seriously impacting the yield and quality of the medicinal material. Thus, this study aims to clarify the pathogen and the occurrence characteristics. To be specific, the pathogen was isolated and identified according to Koch's postulates and the pathogenicity and biological characteristics were determined. In addition, the sensitivity of the pathogen to four microbial fungicides, four botanical fungicides, and five chemical fungicides was determined with the mycelium growth rate method for the purpose of screening out optimal fungicides. The pathogen was identified as Alternaria alternate, as evidenced by the similar colony morphology and microscopic characteristics and 99.55%-100% similarity in sequences of rDNA-ITS, LSU, 18S, and TEF of the two. The optimum growth conditions for A. alternata were 28 ℃, pH 8, and continuous darkness. Bacillus subtilis had strong inhibitory effect on the pathogen, and the inhibition rate was more than 90% when the concentration was 1 mg·L~(-1). In addition, difenoconazole and quinoline copper can also control the pathogen, with median effective concentration(EC_(50)) of 2.92 and 9.02 mg·L~(-1), respectively. This study lays a theoretical basis for the field control of black spot in A. carmichaelii.

Exploration and practice of innovative model of ability-oriented training for general practitioners / 中华医学教育探索杂志

Objective:To explore an innovative model of ability-oriented training for general practitioners and to evaluate its implementation effectiveness.Methods:A total of 49 general practitioners who participated in the training in 2015 were selected as the research objects, and they were trained in a new mode with innovative teaching and training system and comprehensive assessment mode as the main content. The results of theoretical examination and self-assessment scores of post competency were compared before and after the training. SPSS 19.0 was used for t test. Results:The theoretical examination results of the first year of training were higher than those before training [(77.23±0.55) scores vs. (69.14±4.63) scores], with significant differences ( t=12.15, P=0.001); and the results of the second year of training were also higher than those of the first year of training [(83.72±0.45) scores vs. (77.23±0.55) scores], with significant differences ( t=8.12, P=0.001). The self-assessment questionnaire showed that there were significant differences in such five abilities of the students' competency as medical knowledge and clinical skills, autonomous learning, interpersonal communication, teamwork, core values and doctor professionalisms through the comparison of systematic training ( t=2.76, 4.53, 12.09, 2.33, 2.40, all P<0.05). Conclusion:The innovative training model for general practitioners is effective, and the practice of the new model could provide reference for continuously improving the training and education of general practitioners in China.

The Influence of Diabetes, Hypertension, and Hyperlipidemia on the Onset of Age-Related Macular Degeneration in North China: The Kailuan Eye Study / 生物医学与环境科学（英文）

Objective@#To analyze the prevalence of dry and wet age-related macular degeneration (AMD) in patients with diabetes, hypertension and hyperlipidemia, and to analyze the risk factors for AMD.@*Methods@#A population-based cross-sectional epidemiologic study was conducted involving 14,440 individuals. We assessed the prevalence of dry and wet AMD in diabetic and non-diabetic subjects and analyzed the risk factors for AMD.@*Results@#The prevalence of wet AMD in diabetic and non-diabetic patients was 0.3% and 0.5%, respectively, and the prevalence of dry AMD was 17% and 16.4%, respectively. The prevalence of wet AMD in healthy, hypertensive, hyperlipidemic, and hypertensive/hyperlipidemic populations was 0.5%, 0.3%, 0.2%, and 0.7%, respectively. The prevalence of dry AMD in healthy, hypertensive, hyperlipidemic, and hypertensive/hyperlipidemic populations was 16.6%, 16.2%, 15.2%, and 17.2%, respectively. Age, sex, body mass index, and use of hypoglycemic drugs or lowering blood pressure drugs were corrected in the risk factor analysis of AMD. Diabetes, diabetes/hypertension, diabetes/hyperlipidemia, and diabetes/hypertension/hyperlipidemia were analyzed. None of the factors analyzed in the current study increased the risk for the onset of AMD.@*Conclusion@#There was no significant difference in the prevalence of wet and dry AMD among diabetic and non-diabetic subjects. Similarly, there was no significant difference in the prevalence of wet and dry AMD among subjects with hypertension and hyperlipidemia. Diabetes co-existing with hypertension and hyperlipidemia were not shown to be risk factors for the onset of dry AMD.

Electroacupuncture Attenuates Surgical Stress-Induced Reduction of T Lymphocytes through Modulation of Peripheral Opioid System / 中国结合医学杂志

OBJECTIVE@#To investigate the action mechanisms of electroacupuncture (EA) on postoperative immunosuppression.@*METHODS@#Male C57BL/6 mice (5`-7 weeks old) were randomly divided into: the sham injury group, the surgical trauma stressed group, the EA group [surgery + 2/100 Hz EA at Neiguan (PC 6)], and the EA+ Nal (surgery + EA + intraperitoneal injection of naloxone). Abdominal surgical trauma stress mice model was established. EA was performed on bilateral PC 6 acupoints by an EA apparatus (2/100 Hz) for 20 min once a day for 3 days. The mRNA expressions of MOR, DOR, and KOR in thymus and L3`-L5 dorsal root ganglions (DRG) were determined by quantitative real-time polymerase chain reaction (qRT-PCR) and the protein expressions of MOR, DOR, and KOR in thymus were measured by Western blot. Flow cytometry assay was used to detect the levels of T lymphocyte subtypes in the peripheral blood.@*RESULTS@#Surgical trauma induced decreased the mRNA expression level of MOR in both thymus (P0.05). Furthermore, T lymphocyte population of CD3@*CONCLUSION@#EA may improve postoperative immunosuppression through the peripheral opioid system.

Progress on acupuncture intervention for perioperative stress response / 中国针灸

To summarize the application value of acupuncture in perioperative stress response. Perioperative acupuncture can not only effectively relieve pain and stress response during operation, but also relieve psychological stress response represented by preoperative anxiety before operation, and regulate adaptive immune response after operation. Acupuncture, as a safe non-drug therapy, shows its core advantage of participating in the multidisciplinary intervention of enhance recovery after surgery (ERAS). The future studies need to explore and evaluate the role of acupuncture during perioperative period from multiple dimensions, and gradually reveal the mechanism of acupuncture while establishing the evidence-based basis for acupuncture during perioperative period.

Minute Pulmonary Meningothelial-like Nodule:A Case Report and Literature Review / 中国医学科学院学报

Minute pulmonary meningothelial-like nodule(MPMN)is a rare respiratory disease with no specific clinical manifestations and requires bronchial or percutaneous lung biopsy for diagnosis.Here we report a case of an old male patient with recurrent cough and sputum as the main manifestations,which failed to be cured by antibiotic.His chest computed tomography showed a mass-like tumorous lesion located in the posterior segment of the right upper lobe,and the pathological diagnosis by percutaneous lung biopsy confirmed MPMN with lung infection.At the same time,we reviewed 34 cases to summarize the clinical data,pathological manifestation,diagnosis,treatment,and prognosis of MPMN.

The prognostic role of the programmed death-1 expression on T lymphocytes in septic patients / 中华内科杂志

Objective:To investigate the value of programmed death-1（PD-1） expression on the T lymphocytes for the prognosis of septic patients.Methods:From September 2017 to May 2019, septic patients were included in Department of Intensive Care Unit at 6 hospitals. The PD-1 expression on T cells were measured by flow cytometry. Logistic regression was conducted to analyze independent risk factors related to death within 28 days，and receiver operating characteristic curve(ROC) was conducted to evaluate the prognostic value of PD-1 expression on T cells in septic patients.Results:A total of 64 septic patients were enrolled to this study，including 32 survivors and 32 deaths. The PD-1 expression on T cells in the death group was significantly higher than that in the surviving group ( P<0.05). Correlation analysis showed that the percentages of PD-1 +/CD3 +T cells and PD-1 +/CD8 +T cells were positively correlated with procalciton in ( r=0.313, P =0.015； r=0.375, P=0.003), logistic regression analysis showed that the percentages of PD-1 +/CD3 +，PD-1 +/CD4 +，PD-1 +/CD8 +T cells were independent risk factors for the death of sepsis patients. The percentage of PD-1 +/CD3 +T cell was 3.63%, with AUC 0.842, sensitivity to predict the mortality 96.43% and specificity 59.38%, ( P<0.000 1). The percentage of PD-1 +/CD4 +T cell was 4.65%, with AUC 0.847, sensitivity 96.43%, specificity 62.50%，( P<0.000 1). The percentage of PD-1 +/CD8 +T cell was 3.91%, with AUC 0.771, sensitivity 64.29%, specificity 81.25%，( P=0.000 3). Conclusions:The T cell PD-1 expression is an independent risk factor to predict the 28-day mortality in septic patients. Combining the proportions of PD-1 +/CD3 +, PD-1 +/CD4 +and PD-1 +/CD8 +T cells may further enhance the predictive value for death.

Clinical effect of Zhibitai capsule in the treatment of senile hyperlipidemia patients with phlegm and blood stasis syndrome / 中国基层医药

Objective:To investigate the clinical efficacy and safety of Zhibitai capsule in the treatment of senile hyperlipidemia patients with phlegm and blood stasis syndrome.Methods:From June 2014 to June 2015, 126 elderly patients with primary hyperlipidemia of phlegm and blood stasis syndrome admitted to Hangzhou Hospital of Traditional Chinese Medicine were randomly divided into control group and observation group, with 63 cases in each group.The patients in the control group were given basic treatment plus atorvastatin calcium tablets, and the patients in the observation group were treated with Zhibitai capsule on the basis of the control study.Both two groups received continuous treatment for 12 weeks.The clinical efficacy, TCM syndrome integral, blood lipid, hemorheology and adverse reactions of the two groups were observed.Results:The total effective rate in the observation group was 92.1%(58/63), which was higher than 81.0%(51/63) in the control group, and the difference was statistically significant(χ 2=8.199, P<0.05). After treatment, the TCM syndrome score of the observation group was (9.31±1.78)points, which was lower than that of the control group[(15.88±2.35)points], and the difference was statistically significant( t=17.689, P<0.05). After treatment, the levels of total plasma cholesterol, triglyceride, low-density lipoprotein cholesterol and high-density lipoprotein cholesterol in the observation group were (5.16±0.28)mmol/L, (1.89±0.21)mmol/L, (3.34±0.11)mmol/L and (1.18±0.13)mmol/L, respectively, which in the control group were (5.31±0.15)mmol/L, (2.22±0.20)mmol/L, (3.47±0.16)mmol/L and (1.11±0.12)mmol/L, respectively, the differences between the two groups were statistically significant( t=3.748, 9.032, 5.314, 3.140, all P<0.05). After treatment, the whole blood low shear viscosity, high shear viscosity, plasma viscosity and fibrinogen in the observation group were (10.68±2.38)mPa/s, (4.11±0.31)mPa/s, (1.33±0.22)mPa/s, (3.01±0.22)g/L, respectively, which in the control group were (11.55±2.39)mPa/s, (4.43±0.30)mPa/s, (1.61±0.25)mPa/s, (3.25±0.22)g/L, respectively, the differences between the two groups were statistically significant( t=2.047, 5.888, 6.674, 6.123, all P<0.05). There was no statistically significant difference in the adverse reactions between the two groups( P>0.05). Conclusion:Zhibitai capsule can effectively improve the clinical efficacy, improve TCM syndromes, reduce blood lipids and improve hemorheology parameters in elderly patients with hyperlipidemia syndrome of phlegm and blood stasis syndrome, with no obvious adverse reactions, which is worthy of clinical promotion.

Exploration and practice of innovative model of ability-oriented training for general practitioners / 中华医学教育探索杂志

Objective:To explore an innovative model of ability-oriented training for general practitioners and to evaluate its implementation effectiveness.Methods:A total of 49 general practitioners who participated in the training in 2015 were selected as the research objects, and they were trained in a new mode with innovative teaching and training system and comprehensive assessment mode as the main content. The results of theoretical examination and self-assessment scores of post competency were compared before and after the training. SPSS 19.0 was used for descriptive analysis and t test of data. Results:The theoretical examination results before training were significantly different from those after the first year of training, and the results of the first year of training were also significantly different from those of the second year of training ( t values were 12.15 and 8.12, respectively), ( P<0.05). The self-assessment questionnaire showed that through systematic training, five aspects of the students' competency such as medical knowledge and clinical skills, autonomous learning, interpersonal communication, teamwork, core values and doctor professionalisms were significantly improved to different degrees ( P<0.05). Conclusion:The innovative training model for general practitioners is effective, and the practice of the new model could provide reference for continuously improving the training and education of general practitioners in China.

MicroRNA-145 suppresses uveal melanoma angiogenesis and growth by targeting neuroblastoma RAS viral oncogene homolog and vascular endothelial growth factor / 中华医学杂志(英文版)

BACKGROUND@#Uveal melanoma (UM) is the most common primary intraocular malignancy in adults. It has been demonstrated that microRNA-145 (miR-145) is correlated with the progression of various cancers by regulating the expression of multiple target genes, especially a number of genes that regulate angiogenesis and proliferation. However, the underlying mechanisms of miR-145 in tumor angiogenesis of UM are still not well illustrated. Thus, we aimed to explore the potential target genes or pathways regulated by miR-145 in UM and the effect of miR-145 on invasion and angiogenesis.@*METHODS@#Totally, 24 choroid samples were collected in our study, including 12 UM samples and 12 normal uveal tissues. The expression of neuroblastoma RAS viral oncogene homolog (N-RAS), phosphorylated protein kinase B (p-AKT), and vascular endothelial growth factor (VEGF) in UM tissues and normal uveal tissues was analyzed using Western blotting analysis. Lentivirus expression system was used to construct MUM-2B and OCM-1 cell lines with stable overexpression of miR-145. Transwell and endothelial cell tube formation assay were used to measure the effects of miR-145 on the invasion and angiogenesis of UM in vitro. The downstream target genes of miR-145 were predicted by bioinformatics and confirmed using a luciferase assay. BALB/c nude mice models were established to investigate the mechanisms of miR-145 on tumor growth and angiogenesis in vivo. Group data comparisons were performed using analysis of Student's t test. A two-tailed P < 0.05 was considered as statistically significant.@*RESULTS@#The results of Western blotting analysis indicated that the expressions of N-RAS (1.10 ± 0.35 vs. 0.41 ± 0.36, t = 3.997, P = 0.012), p-AKT (1.16 ± 0.22 vs. 0.57 ± 0.03, t = 7.05, P = 0.001), and VEGF (0.97 ± 0.32 vs. 0.45 ± 0.21, t = 3.314, P = 0.008) in UM tumor tissues were significantly higher than those in normal uveal tissue. Luciferase assay demonstrated N-RAS and VEGF as downstream targets of miR-145. Moreover, tube formation assay revealed that miR-145-transfected human microvascular endothelial cell line formed shorter tube length (36.10 ± 1.51 mm vs. 42.91 ± 0.94 mm, t = 6.603, P = 0.003) and less branch points (350.00 ± 19.97 vs. 406.67 ± 17.62, t = 3.685, P = 0.021) as compared with controls. In addition, the numbers of invaded MUM-2B and OCM-1 cells with miR-145 overexpression were significantly lower than the controls (35.7 ± 3.3 vs. 279.1 ± 4.9, t = 273.75, P < 0.001 and 69.5 ± 4.4 vs. 95.6 ± 4.7, t = 21.27, P < 0.001, respectively). In vivo, xenografts expressing miR-145 had smaller sizes (miR-145 vs. miR-scr, 717.41 ± 502.62 mmvs. 1694.80 ± 904.33 mm, t = 2.314, P = 0.045) and lower weights (miR-145 vs. miR-scr, 0.74 ± 0.46 g vs. 1.65 ± 0.85 g, t = 2.295, P = 0.045).@*CONCLUSION@#Our results indicated that miR-145 is an important tumor suppressor and the inhibitory strategies against N-RAS/VEGF signaling pathway might be potential therapeutic applications for UM in the future.

Vermilion tubercle reconstruction with a vermilion flap transferred vertically in secondary cleft lip repair / 中华医学美学美容杂志

Objective:To present a new method of vermilion tubercle reconstruction in secondary cleft lip repair.Methods:39 secondary cleft lip repair patients underwent the operation of vermilion tubercle reconstruction with a vermilion flap transferred vertically. The procedures of the reconstruction mainly included three processes, restoring the vermilion tubercle tissue in the cleft area, widening the vermilion with the vermilion flap, and augmenting the volume of the tubercle with the muscle tissue underlying that vermilion flap. The width of the vermilion and the projection of the vermilion tubercle were measured before and after operation, and then two sets of data were analyzed with paired-samples t test. A patient satisfaction survey was performed postoperatively to evaluate the effect of the reconstruction.Results:The reconstructions of vermilion tubercle were successful in all patients and no complications occurred. The most of new vermilion tubercles located in midline and appeared plump. Follow-up had been completed in 28 patients and the average follow-up period was (9.71±5.02) months. The effective vermilion width increase was from (5.32±0.91) mm, (3.98±0.89) mm, (4.30±0.86) mm before operation to (6.35±0.87) mm, (7.75±1.03) mm, (7.48±0.97) mm after operation in the midline of lip, the peak of cleft side and the midline of short arm, respectively. The postoperative width of vermilion in the cleft side was widened significantly. The projection of the tubercle was increased significantly from (0.38±0.46) mm to (0.83±0.51) mm. 96.4% (27) patients achieved satisfied results of vermilion tubercle reconstruction after operation.Conclusions:The vermilion flap transferred vertically has been found to be an effective method of vermilion tubercle reconstruction in the secondary repair of cleft lip.

Prenatal diagnosis for a pedigree affected with Wolf-Hirschhorn syndrome due to a subtle chromosomal translocation / 中华医学遗传学杂志

OBJECTIVE@#To make molecular diagnosis of an infant affected with severe developmental delay and multiple birth defects, assisting prenatal diagnosis for the second pregnancy.@*METHODS@#Standard G-banded karyotyping was performed for the fetus and his parents. Single nucleotide polymorphism array (SNP array) was used to detect submicroscopic chromosomal aberration. Fluorescence in situ hybridization (FISH) was employed to determine the parental origin of the aberration.@*RESULTS@#Both the proband and the fetus harbored a 5.4 Mb distal 4p deletion and a 6.9 Mb distal 6q duplication. FISH confirmed that the mother has carried a balanced translocation involving 4p and 6q.@*CONCLUSION@#The unbalanced chromosomal aberration in the proband and the fetus were both derived from the mother. Both patients showed a Wolf-Hirschhorn syndrom phenotype and partial phenotype of 6q trisomy. SNP array combined with FISH are essential for the detection of cryptic chromosomal aberrations which may be missed by coventional karyotyping analysis.

Prenatal diagnosis of fetal 1p32p31 microdeletion syndrome: a case report / 中华围产医学杂志

We hereby reported a fetus with abnormal head shape, ventricular septal defect, gallbladder enlargement, low-set ears and local umbilical cord glial edema at 22 and 25 weeks of gestation ultrasound scan. A 15.318 Mb heterozygous microdeletion on chromosome 1p32.1p31.1, arr[GRCh37]1p32.1p31.1(61,279,239-76,597,189)×1, was indentified by chromosomal microarray analysis. The chromosome karyotype of the fetus was 46,XY,del(1)(p32.1p31.1). Therefore, this case was diagnosed as 1p32p31 microdeletion syndrome and proved to be a de novo variation based on routine G-banding analysis and chromosomal microarray analysis of the normal parents. This syndrome might present with abnormalities in the head shape, kidney, bladder and central nervous system. The couple decided to terminate the pregnancy after genetic counseling concerning the possible poor outcomes of the fetus.

Prenatal echocardiography in the diagnosis of fetal double aortic arch / 中华超声影像学杂志

To explore the way of prenatal echocardiography in the diagnosis of fetal double aortic arch . Methods T he data of fetuses diagnosed as double aortic arch in 6 prenatal centers in Hunan in echocardiograms performed at 20－36 weeks of gestation from 2013 to 2018 were reviewed . T he characteristics of echocardiographic with double aortic arch , and the associated malformations were observed ,the clinical outcome were analyzed . Results T he main echocardiographic features of the double aortic arch were three‐vessel‐tracheal view s ,which showed a bifurcation of the ascending aorta and a ring consisted of aortic right and left arch . From this retrospective analysis , 29 double aortic arches were identified ,which 8 cases ( 28% ) combined with cardiac defect and extracardiac abnormalities , 1 case with 22q11 deletion . Among them ,5 cases were confirmed by autopsy ,24 cases were diagnosed by computed tomography angiography ( 8 cases were confirmed by operation ) . Conclusions Systematic prenatal echocardiography in the diagnosis of fetal double aortic arch has significant clinical value in the cliagnose of double aortic arch ,w hether it is associated with other malformations and is important for assessing fetal prognosis .

Family with Sequence Similarity 83 Member H Promotes the Viability and Metastasis of Cervical Cancer Cells and Indicates a Poor Prognosis

PURPOSE: Family with sequence similarity 83 member H (FAM83H) plays key roles in tumorigenesis. However, the specific roles of FAM83H in cervical cancer (CC) have not been well studied. MATERIALS AND METHODS: The RNA-seq data of 306 CC tissues and three normal samples downloaded from The Cancer Genome Atlas were used to analyze the expression of FAM83H. The Kaplan-Meier method was used to draw survival curves. Associations between FAM83H expression and clinicopathological factors were analyzed by chi-square test. Cox proportional hazards model was used to analyze prognostic factors. Loss-of-function assays were conducted to discover the biological functions of FAM83H in cell proliferation, colony formation, invasion, and migration. Real-time Quantitative Reverse Transcription PCR (qRT-PCR) and Western blotting were used to measure the expression levels of FAM83H in CC cell lines. RESULTS: Our results demonstrated that FAM83H is overexpressed in CC tissues and that high FAM83H expression is associated with worse overall survival (OS). High FAM83H expression in CC was associated with clinical stage, pathologic tumor, and pathologic node. Univariate analysis suggested that FAM83H expression was significantly related to the OS of CC patients. Although multivariate analysis showed that FAM83H expression was not an independent prognostic factor for the OS of CC patients, the effects of FAM83H on CC cell growth and motility was significant. Loss-of-function experiments demonstrated that knockdown of FAM83H inhibited proliferation, colony formation, migration, and invasion of CC cells by inactivating PI3K/AKT pathway. CONCLUSION: FAM83H might play a crucial role in CC progression and could act as a novel therapeutic target in CC.

Application of parametric g-formula in causal analysis / 中华流行病学杂志

At present, traditional methods on statistics have limitations in controlling time- varying confounding. This paper introduces an analysis method, parametric g-formula, which would adjust time-varying confounding, and also exemplifies the steps of its implementation for purpose to provide a new reference for researchers to deal with long-term observational data.