OBJECTIVE: To delineate the clinical and genetic features of a Chinese girl harboring a rare de novo variant of SYNGAP1 associated with Mental retardation, autosomal dominant 5 (MRD5), and to conduct a comprehensive genotype-phenotype correlation analysis within the Chinese population through an extensive literature review. METHODS: A 5-year-old girl presenting with seizures without an obvious cause was enrolled in September 2020. Genomic DNA was extracted from the patient and her parents. Whole exome sequencing (WES) was performed on the proband to identify suspected pathogenic variants based on her clinical phenotype. Sanger sequencing was used for validation, followed by bioinformatic analysis of the variant. Additionally, data from 54 previously reported Chinese cases with SYNGAP1 variants were integrated to summarize the distribution of variant types and clinical characteristics. Ethical approval was obtained from the Ethics Committee of Kunming Children's Hospital (Ethics No.: 2021-03-055-K01). RESULTS: WES identified a heterozygous nonsense variant, SYNGAP1 c.725G>A (p.Trp242*), in the proband. Sanger sequencing confirmed it was a de novo variant. According to the ACMG guidelines, this variant was classified as pathogenic (PVS1+PS2). Based on the clinical manifestations, the patient was diagnosed with MRD5. Bioinformatic analysis suggested that this variant introduces a premature stop codon at tryptophan 242, disrupting the PH domain and leading to the loss of the C2, Ras-GAP, and C-terminal domains. The pooled analysis of Chinese cases revealed that nonsense (38.2%) and frameshift (36.4%) variants were the predominant types. Intellectual disability/developmental delay was present in 100.0% of patients, epilepsy in 83.6%, and autism spectrum disorder in 41.3%. The incidence of epilepsy differed significantly among variant types (P = 0.045). Exons 8 and 15 were identified as mutation hotspots. CONCLUSION This study has identified a SYNGAP1 c.725G>A variant in the Chinese population and confirmed it as a potential cause of MRD5, which expanded the mutational spectrum of this disorder.
Humans ; Female ; Child, Preschool ; Intellectual Disability/genetics* ; ras GTPase-Activating Proteins/genetics* ; Phenotype ; Exome Sequencing ; Genetic Association Studies

ObjectiveTo investigate the clinical features and traditional Chinese medicine （TCM） syndrome distribution of treatment-naïve patients with hepatitis B virus-related primary liver cancer （HBV-PLC）， and to provide a basis for integrated traditional Chinese and Western medicine in the prevention and treatment of HBV-PLC. MethodsA retrospective analysis was performed for the clinical data of 99 treatment-naïve HBV-PLC patients who were admitted to Department of Hepatology and Infectious Diseases in The First Affiliated Hospital of Hunan University of Chinese Medicine from January 2019 to December 2024. According to whether the patient received standardized antiviral therapy （for ≥3 years）， they were divided into antiviral group and non-antiviral group， and according to the status of HBeAg， they were divided into HBeAg-positive group and HBeAg-negative group. Demographic features， laboratory test results， imaging data， and TCM syndrome data were collected， and neutrophil-to-lymphocyte ratio （NLR）， Child-Pugh score， and CNLC stage were calculated. The independent samples t-test was used for comparison of normally distributed continuous data between two groups， and the chi-square test was used for comparison of categorical data between groups. ResultsThe 99 treatment-naïve HBV-PLC patients had a mean age of 57.12±11.60 years， and the patients aged 50 — 75 years accounted for the highest proportion of 72.7%， with a male/female ratio of 5.2∶1. The patients with liver cirrhosis accounted for 81.8%， and 67.7% of the patients did not receive antiviral therapy in the past. The positive rates of HBV DNA， HBeAg， and alpha-fetoprotein were 80.8%， 18.2%， and 69.7%， respectively， and the patients with Child-Pugh class A/B disease accounted for 89.9%. Compared with the non-antiviral group， the antiviral group had a significantly smaller maximum tumor diameter （t=2.310， P=0.024）， a significantly lower HBV DNA positive rate （χ²=14.006， P<0.001）， and a significantly lower number of tumor thrombi （χ²=7.347， P=0.007）. In addition， there were significant differences between the HBeAg-negative group and the HBeAg-positive group in Child-Pugh class （χ²=6.780， P=0.034） and CNLC stage （χ²=8.746， P=0.033）. Among the 99 treatment-naïve HBV-PLC patients， 41.4% had liver depression and spleen deficiency with blood stasis， 22.2% had Qi deficiency and blood stasis syndrome， and 19.2% had damp-heat accumulation with blood stasis. ConclusionTreatment-naïve HBV-PLC patients are mainly middle-aged and elderly male individuals， and most of the patients are comorbid with liver cirrhosis. Standardized antiviral therapy can significantly reduce tumor burden and improve virologic response， with better hepatic compensation in HBeAg-negative patients， and hypoproteinemia is more common in patients with Qi deficiency and blood stasis syndrome.

Objective:To investigate the radiosensitizing effect of silencing breast cancer susceptibility gene 1 (shBRCA1) expression on MDA-MB-231 breast cancer bearing nude mice by 3′-deoxy-3′- 18F-fluorothymidine ( 18F-FLT) microPET/CT imaging. Methods:Twenty-four BALB/c nude mice were divided into 4 groups ( n=6 in each group) according to the random number table method, namely negative control (NC) group, NC+ radiotherapy group, shBRCA1 group and shBRCA1+ radiotherapy group. 18F-FLT microPET/CT imaging was performed before and 24 h after radiotherapy. The changes of SUV max before and after radiotherapy were compared among 4 groups, and the total proliferative volume (TPV) of tumors in each group after treatment was also analyzed. The expression of Ki-67 in tumor tissues was analyzed by immunohistochemistry. Data were analyzed by paired t test, one-way analysis of variance, least significant difference t test and Pearson correlation analysis. Results:Breast cancer cells targeting the BRCA1 were constructed. Before radiotherapy, the differences of SUV max among the NC group, NC+ radiotherapy group, shBRCA1 group and shBRCA1+ radiotherapy group were not statistically significant (1.034±0.137, 1.031±0.152, 1.028±0.169 and 1.026±0.156; F=0.00, P=0.999). Twenty-four hours after the end of the four times of radiotherapy, the differences of SUV max among the 4 groups were statistically significant (1.367±0.100, 0.781±0.079, 1.306±0.213 and 0.597±0.129; F=44.77, P<0.001), with lower SUV max in the shBRCA1+ radiotherapy group compared with the NC+ radiotherapy group ( t=2.98, P=0.014). The SUV max of the NC+ radiotherapy group and shBRCA1+ radiotherapy group were reduced compared with those before radiotherapy ( t values: 5.82, 5.44, P values: 0.002, 0.003), while SUV max of the NC group and shBRCA1 group increased compared with those before radiotherapy ( t values: -4.47, -3.98, P values: 0.007, 0.011). TPV was smaller in the shBRCA1+ radiotherapy group compared with that in the NC+ radiotherapy group (0.48±0.03 vs 0.61±0.07; F=25.36, t=3.82, P=0.003). Immunohistochemical assays showed that Ki-67 was less expressed in the shBRCA1+ radiotherapy group than that in the NC+ radiotherapy group (0.286±0.072 vs 0.476±0.093; F=15.73, t=3.61, P=0.007). Correlation analysis showed a positive correlation between Ki-67 expression and SUV max ( r=0.83, P<0.001). Conclusion:18F-FLT microPET/CT imaging can evaluate the radiosensitizing effect of shBRCA1 expression on MDA-MB-231 breast cancer bearing nude mice.

Objective: To investigate the effect of 18 F-deoxythymidine nucleoside ( 18 F-FLT) positron emission computed tomography (PET / CT) imaging to evaluate the radiosensitization effect of Olaparib on breast cancer model in nude mice． Methods : According to the random number table method，twenty-four BALB / C nude mice MCF- 7 breast cancer models were established and divided into four groups with 6 mice in each group，namely the control group，radiotherapy group，Olaparib group and Olaparib + radiotherapy group． 18 F-FLT micro PET / CT imaging was performed on nude mice before and 48 h after treatment，respectively．The changes of maximum standardized uptake value ( SUVmax ) ，total proliferation volume (TPV) and tumor volume before and after tumor treatment in four groups were compared．The tumors were extracted and weighed to observe the changes of tumor weight，and the expression of Ki-67 and PCNA was analyzed by immunohistochemistry staining．The correlation of tumor SUVmax with Ki-67 and PCNA was analyzed. Results : Before treatment，there were no significant differences in SUVmax ， TPV and tumor volume among the 4 groups (F = 0. 041，0. 061，0. 045，P＞0. 05) ．48 h after treatment，SUVmax in the control and Olaparib groups increased significantly ( t = －12. 111，P ＜0. 001 ; t = －3. 001，P = 0. 03 ) ， SUVmax was reduced in the radiotherapy and Olaparib + radiotherapy groups (t = 5. 829，P＜0. 01 ; t = 4. 448，P < 0. 01) ，while SUVmax ，TPV and tumor volume of tumors in the Olaparib + radiotherapy group were lower than those in the radiotherapy group (t = 3. 388，5. 884，5. 990，P＜0. 01) ．Tumor weight was significantly lower in the Olaparib + radiotherapy group than in the other three groups ( F = 44. 405，P ＜0. 001 ) ． Immunohistochemical staining showed that Ki-67 and PCNA were the least expressed in the Olaparib + radiotherapy group than in the other three groups (F = 16. 289，39. 645，P＜0. 001) ．SUVmax was positively correlated with Ki-67 and PCNA expression (r = 0. 920，0. 918，P＜0. 01) ． Conclusion 18 F-FLT Micro PET / CT imaging can evaluate the radiosensitizing effect of Olaparib on nude mouse breast cancer model.

Aortic dissection during pregnancy is rare in clinics. Because the symptoms are lack of specificity, early diagnosis is difficult. However, the progression of aortic dissection is fast, therefore, the mortality of pregnant women and fetuses is high, and half of the death in pregnant women is due to aortic dissection. Although the development of medical condition is rapid, aortic dissection of pregnancy is still a great challenge for patients and clinicians, and is one of the most important diseases in obstetric medical disputes. In this paper, combined with the literatures published in recent years, we summarized the epidemiological characteristics and related treatment suggestions of the aortic dissection in pregnancy.

To study the change of the dominant eye in the age-related cataract patients before and after surgery, to analyze the correlation between the orientation of the dominant eye and the visual quality, and to observe whether the patients with the change in dominant eye were converted to dizziness.
 Methods: A total of 44 patients, with age-related cataract between 60 and 80 years old were enrolled. Group A: the non-dominant (secondary) eye served as the surgical eye (n=35); Group B: the dominant eye served as the surgical eye (n=9); Group C: the operation was performed on the contralateral eye after a month (n=28). Measurement of the dominant eye was performed before operation, 1 week after operation and 1 month after the operation. The changes in the uncorrected distance visual acuity (UCDVA), contrast sensitivity (CS), best corrected visual acuity (BCVA) and spherical equivalent (SE) between the dominant and non-dominant eye were compared.
 Results: The UCDVA, CS, BCVA and SE were significantly improved at 1 day after the operation. There was significant difference between the 2 groups (P<0.05). Preoperative: in group A, the UCDVA, CS, BCVA of ocular dominance were better than the non-dominant eye with significant difference (P<0.05), while there was no significant difference between the SE (P>0.05); in group B, the UCDVA, CS, BCVA in the dominant eye were better than the non-dominant eye's, but the difference was not statistically significant (P>0.05). After operation: the UCDVA, CS and BCVA in the dominant eye in group A and group B were higher than those of the non-dominant eye with statistical difference (P<0.05), but there was no statistical difference between SE (P>0.05). The dominant eye's transformation occurred in group A when the non-dominant eye's postoperative visual quality improved over the leading eye. The transformation rate was 60% in 1 week, and the conversion rate was 80% in 1 month. In group C, the dominant eye reduction rate was 100%, and the visual quality was not significant difference between the two eyes (P>0.05). After the operation, the patients with the dominant eye's transformation felt discomfort, which could be relieved within 1 week.
 Conclusion: The location of the dominant eye was correlated with uncorrected visual acuity, contrast sensitivity, and the best corrected visual acuity. The dominant eye's transformation occurred when the non-dominant eye's postoperative visual quality improved over the leading eye after the surgery. If the contralateral eye's surgery was performed in a short term, the dominant eye can be returned to the initial state.
Aged ; Aged, 80 and over ; Cataract ; therapy ; Cataract Extraction ; Humans ; Middle Aged ; Phacoemulsification ; Treatment Outcome ; Visual Acuity

The incidence of postoperative excessive bleeding and reexploration is relatively high, and it will bring a series of serious complications, such as an additional surgery, a longer intensive care unit stay, longer time on mechanical ventilation, an increase need of allogeneic blood product transfusions and increased mortality. However, the understanding of postoperative excessive bleeding and reexploration in China is significantly different from the international level, and the understanding of postoperative excessive bleeding and reexploration after cardiac surgery in clinical work is still not enough. This review will focus on some problems, such as related factors analysis of postoperative excessive bleeding, hemostatic process optimization and the serious complications of reexploration after cardiac surgery.