Objective:To confirm the potential etiological factors of congenital aortic stenosis(AS)by genetic analysis on prenatal diagnostic results of the fetus with AS.Methods:Amniocentesis for chromosomal G-band karyotyping combinated with single nucleotide polymorphism array(SNP-array)analysis was conducted on the amniotic fluid collected from a 25-week pregnant woman diagnosed as"fetus AS";chromosome karyotyping was also performed on the peripheral blood of the fetal parents.Results:The fetal karyotype analysis showed a chimeric Y-chromosome isobaric double-adherent granules.The SNP-array analysis results revealed a 11.2 Mb duplication in the Yp11.31q11.21 region and a 14.8 Mb deletion in the Yq11.21q11.23 region.Both the parents presented a normal karyotype,suggesting it was a newfound mutation.After extensive genetic counseling,the pregnant woman and her family chose to terminate the pregnancy locally.Conclusion:The chromosomal karyotype of the chimeric Y-chromosome isobaric double-adherent granules may be a contributing factor to the AS phenotype in the male fetus.The combined use of chromosomal karyotyping and SNP-array analysis on the amniotic cells is instrumental in the early diagnosis of the disease.

To investigate the expression and clinical significance of GATA-3 and H3K27me3 in Tibetan patients with bladder urothelial carcinoma (BUC).

Objective To investigate the value of triglyceride glucose-body mass index(TyG-BMI)index in predicting the severity of hyperlipidemic acute pancreatitis(HLAP).Methods A retrospective analysis was performed for the clinical data of 185 patients with HLAP who were admitted to Tianyou Hospital Affiliated to Wuhan University of Science and Technology from January 2021 to December 2023,and according to the revised Atlanta classification criteria for acute pancreatitis,they were divided into mild group with 95 patients and moderate or severe group with 90 patients.Clinical features were compared between the two groups to analyze the correlation between TyG-BMI and the severity of HLAP,and the efficacy of TyG-BMI in predicting the severity of HLAP was analyzed.The independent-samples t test or the Mann-Whitney U test was used for comparison of continuous data between two groups,and the chi-square test was used for comparison of categorical data between two groups.Univariate and multivariate Logistic regression analyses were used to investigate the influencing factors for the severity of HLAP.A Spearman correlation analysis was used to investigate the correlation between TyG-BMI and the severity of HLAP,and the receiver operating characteristic(ROC)curve was used to analyze the efficacy of TyG-BMI in predicting the severity of HLAP.Results There were significant differences between the mild group and the moderate or severe group in creatinine,blood glucose(GLU),triglyceride,TyG-BMI,and Bedside Index for Severity in Acute Pancreatitis(BISAP)score(Z=-2.059,-7.217,-7.799,-9.566 and-11.386,all P<0.05).The multivariate Logistic regression analysis showed that BISAP score(odds ratio[OR]=4.221,95%confidence interval[CI]:1.421-12.538,P=0.001),TyG-BMI(OR=1.262,95%CI:1.140-1.396,P=0.010),and GLU(OR=1.316,95%CI:1.040-1.666,P=0.022)were independent risk factors for the severity of HLAP and were positively correlated with the severity of HLAP(r=0.839,0.705,and 0.532,all P<0.05).In the comparison of the efficacy of these indicators in predicting the severity of HLAP,TyG-BMI had a slightly lower efficacy than BISAP score(Z=-4.368,P<0.001)and a significantly better efficacy than GLU(Z=2.155,P<0.001),with an area under the ROC curve of 0.891,a sensitivity of 91.10%,and a specificity of 96.80%.Conclusion TyG-BMI index has a certain value in predicting the severity of HLAP and can be used in clinical comprehensive assessment of HLAP.

Objective:To explore the relationship between clinicopathological features, treatment and prognosis of patients with malignant mesothelioma, and provide theoretical basis for the prevention and treatment of malignant mesothelioma.Methods:In November 2022, the clinical data of 37 patients with malignant mesothelioma diagnosed in Qingdao Central Hospital from July 2014 to November 2022 were retrospectively analyzed, and the prognostic factors were analyzed by Kaplan-Meier and log-rank tests.Results:The median age of the 37 patients was 66 years old, all patients were confirmed by pathology. The median survival time of all patients was 30.00 months. The 1-year, 2-year, 3-year and 5-year cumulative survival rates were 70.27% (26/37), 48.65% (18/37), 16.22% (6/37) and 13.51% (5/37), respectively. Compared with different treatments, the median survival time of palliative care patients was 5.00 months, which was significantly lower than that of operation group (30.33 months), chemotherapy group (30.00 months), surgery combined with chemotherapy group (30.00 months) and chemotherapy combined with bevacizumab targeted therapy group (47.42 months) ( P<0.05). Gender, age (≥60 years old or <60 years old), smoking history, occupational exposure history, disease site, and surgical history were not factors affecting the survival of malignant mesothelioma patients ( P>0.05) . Conclusion:The clinical symptoms of malignant mesothelioma are not specific, but early initiation of treatment can still prolong survival, and chemotherapy combined with anti-vascular targeted therapy shows better therapeutic effect.

Objective To study the expression of SWI/SNF-related,matrix-associated,actin-depend-ent regulator of chromatin,subfamily A,member 4(SMARCA4)/Brahma-related gene 1,V-raf murine sarco-ma viral oncogene homolog B(BRAF),P53,programmed cell death protein-1(PD-1),and programmed death-ligand 1(PD-L1),and changes in the expression of BRAF and neurotrophic tyrosine receptor kinase(NTRK)in the patients with colorectal cancer in Tibet,thereby providing a basis for targeted therapy and immunotherapy for this disease in Tibet.Methods A total of 64 patients with colorectal cancer resected in the Tibet Autonomous Region People's Hospital from January 2015 to July 2021 were enrolled in this study.The expression of SMARCA4,BRAF,P53,PD-1,and PD-L1 was detected by immunohistochemical staining.The gene fusion involving NTRK1,NTRK2,and NTRK3 was detected by fluorescence in situ hybridization,and the BRAF V600E gene mutation by polymerase chain reaction.Results The 64 patients with colorectal cancer were at a male-to-female ratio of 1.21∶1,with the mean age of(56.59±13.27)years.The tumors were located in the co-lon in 46(71.88%)patients and in the rectum in 18(28.12%)patients.Sixty(93.75%)patients presented adenocarcinoma,and 4(6.25%)patients presented other types of tumors.The patients in T1/T2 and T3/T4 phases accounted for 17.19%(n =11)and 82.81%(n =53),respectively.Lymph node metastasis occurred in 24(37.50%)patients.The immunohistochemical staining results showed partially down-regulated or absent ex-pression of SMARCA4 in 1(1.56%)patient,positive BRAF expression in 4(6.25%)patients,and mutant expression of P53 in 35(54.69%)patients.The PD-1-expressing tumor associated immune cell was proportion score<10%in 45(70.31%)patients and≥10%in 19(29.69%)patients.The PD-L1 combined positive score was<10 in 52(81.25%)patients and≥10 in 12(18.75%)patients.The gene fusion of NTRK1,NTRK2,and NTRK3 was negative in all the patients,and BRAF V600E gene mutation was positive in 4(6.25%)patients.The SMARCA4 gene alteration was not detected in the patient with partial expression missing of SMARCA4.The PD-L1 combine positive score was correlated with the deficient mismatch repair(dMMR)/mic-rosatellite instability-high(MSI-H)and the PD-1 expression(χ2 = 10.223,P = 0.001;χ2 = 11.979,P = 0.001).Conclusions The down-regulated or absent SMARCA4 expression and NTRK gene fusion are rare in the patients with colorectal cancer in Tibet.A few patients present BRAF V600E gene mutations,and Pan-TRK and BRAF expression can be used for the primary screening of NTRK gene fusion and BRAF gene mutation.The patients with dMMR/MSI-H are prone to high expression of PD-L1 and expected to benefit from immunothera-py.No significant correlation exists between P53 mutation and PD-L1 expression.The high expression of PD-1 is positively correlated with the high expression of PD-L1.

Microglia, originating from primitive macrophages in the yolk sac, serves as both immune system defenders and regulators of homeostasis. These cells exhibit two primary polarization states: conventionally activated(M1)and alternatively activated(M2). The polarization of microglia plays a crucial role in influencing inflammatory disorders, metabolic imbalances, and neural degeneration. This process is implicated in various aspects of ocular diseases, especially age-related macular degeneration(AMD), including inflammation, oxidative stress and pathological angiogenesis. The distinct functional phenotypes of microglia impact disease progression and prognosis. Thus, regulating the polarization or functional phenotype of microglia at different stages of AMD holds promise for personalized therapeutic approaches. This comprehensive review outlines the involvement of microglia polarization in both physiological and pathological conditions, emphasizing its relevance in AMD. The discussion underscores the potential of polarization as a foundation for personalized treatment strategies for AMD.

Objective:To explore the relationship between clinicopathological features, treatment and prognosis of patients with malignant mesothelioma, and provide theoretical basis for the prevention and treatment of malignant mesothelioma.Methods:In November 2022, the clinical data of 37 patients with malignant mesothelioma diagnosed in Qingdao Central Hospital from July 2014 to November 2022 were retrospectively analyzed, and the prognostic factors were analyzed by Kaplan-Meier and log-rank tests.Results:The median age of the 37 patients was 66 years old, all patients were confirmed by pathology. The median survival time of all patients was 30.00 months. The 1-year, 2-year, 3-year and 5-year cumulative survival rates were 70.27% (26/37), 48.65% (18/37), 16.22% (6/37) and 13.51% (5/37), respectively. Compared with different treatments, the median survival time of palliative care patients was 5.00 months, which was significantly lower than that of operation group (30.33 months), chemotherapy group (30.00 months), surgery combined with chemotherapy group (30.00 months) and chemotherapy combined with bevacizumab targeted therapy group (47.42 months) ( P<0.05). Gender, age (≥60 years old or <60 years old), smoking history, occupational exposure history, disease site, and surgical history were not factors affecting the survival of malignant mesothelioma patients ( P>0.05) . Conclusion:The clinical symptoms of malignant mesothelioma are not specific, but early initiation of treatment can still prolong survival, and chemotherapy combined with anti-vascular targeted therapy shows better therapeutic effect.

Objective: To analyze the improvement of executive function in children with attention deficit hyperactivity disorder (ADHD) aged 7-14 years with comprehensive intervention and drug therapy alone, to provide a basis for intervention research to improve ADHD. Methods: A total of 80 children with ADHD treated in the Third People s Hospital of Ganzhou from January 2021 to June 2022 were randomly divided into intervention group and control group. The intervention group received drug and comprehensive intervention therapy, and sensory integration training once a week for 60 to 90 min each for 12 weeks, and conduct related training for caregivers and school teachers, the control group received only drug therapy. The changes of executive function were assessed by the stroop color word association test and the Wisconsin Card Sorting Test (WCST) after 12 weeks of intervention. Results: After intervention, the results of the Stroop color word test in the intervention group (3.25±0.98, 4.92±1.40, 10.17±1.28) showed statistically significant differences ( t=12.94, 15.36, 26.34 , P <0.01) compared with those before intervention (6.47±1.92, 8.35±1.25, 16.55±1.57). There were also statistically significant differences ( t=6.76, 15.01, 16.15, P <0.01) in the control group ( 3.95 ±1.01, 5.45±1.15, 12.35±0.86) compared to those before intervention (6.17±1.87, 8.10±1.03, 16.02±1.38). Before intervention, the number of perseverative errors, non perseverative errors, and completed categories by WCST in the intervention group were (47.77±4.50, 35.50±2.37, 3.97±1.07), and in the control group were (46.45±7.34, 34.87±2.29, 3.70±1.11). After intervention, those of the intervention group and control group were (31.42±2.01, 24.75±2.05, 5.05±1.13) and (32.82±2.57, 25.55±1.04, 4.25±1.48), respectively. There were significant differences in the two groups before and after intervention ( t =21.93, 22.27 , -10.37; 10.84, 26.81, -6.90, P <0.01). After intervention, there were significant differences in the number of Stroop color word test errors, perseverative errors and non perseverative errors in WCST between the two groups ( t=-2.94, 2.29, -9.07, -2.35 , -2.06, P <0.05). Conclusion Through training for children and the therapy model of comprehensive intervention could significantly improve the executive function of children for a certain extent.

OBJECTIVE: To explore the clinical and genetic characteristics of a child with spinocerebellar ataxia type 29 (SCA29) due to novel variant of the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) gene. METHODS: The child was subjected high-throughput sequencing, and candidate variant was verified by Sanger sequencing of his family members. RESULTS: The child was found to harbor a c.800C>T (p.T267M) variant of the ITPR1 gene, which was not found in his parents and their fetus. The variant has occurred in a hotspot of the ITPR1 gene variants and was unreported before in China. Based on his clinical and genetic characteristics, the child was diagnosed with SCA29. CONCLUSION The novel heterozygous c.800C>T (p.T267M) of the ITPR1 gene probably underlay the SCA29 in this child.
Child ; Humans ; Family ; Inositol 1,4,5-Trisphosphate Receptors/genetics* ; Mutation ; Spinocerebellar Ataxias/genetics* ; Spinocerebellar Degenerations

Rats ; Animals ; Myocardial Reperfusion Injury/metabolism* ; Luteolin/metabolism* ; Down-Regulation ; Rats, Sprague-Dawley ; MicroRNAs/metabolism* ; Reperfusion Injury ; Apoptosis