Objective: To analyze the clinical phenotype and genomic abnormality of an adult featuring congenital heart defect and multiple developmental disorders. Methods: The patient was subjected to conventional G-banding chromosomal karyotyping and single nucleotide polymorphism microarray (SNP-array) analysis. Results: The patient showed a normal karyotype, while SNP-array revealed a 42.7 Mb mosaic uniparental disomy (UPD) in the 11p15.5p12 region ([hg19] chr11: 491 333 - 43 189 376). Conclusion The mosaicism of UPD of 11p15.5p12 region probably underlies the congenital heart defect and developmental disorders in the patient.

Objective:To explore the impact of cognitive function and childhood trauma in individuals with clinical high risk of psychosis (CHR).Methods:From June 2017 to September 2022, a total of 62 individuals with CHR(CHR group) were screened by structured interviews with psychiatric risk syndrome (SIPS) at Beijing Anding Hospital, and 61 healthy controls(healthy control group) matched in gender, age, and educational years were recruited. All participants were evaluated by the childhood trauma questionnaire (CTQ) and the Chinese version of the MATRICS consensus cognitive test battery (MCCB). Differences in cognitive function and childhood trauma between the two groups were compared by R4.1.1 software, and the correlation between cognitive function and childhood trauma in the CHR group was analyzed.Results:The scores of MCCB composite score (41.46±6.97), information processing speed (40.20±8.40), attention vigilance (40.92±11.00), working memory (41.09±9.97), verbal learning, and visual learning of CHR group were significantly lower than those of healthy controls(MCCB composite score(46.26±7.64), information processing speed(45.83±8.36), attention vigilance(46.30±9.57), working memory(46.18±8.49)), and with statistically significant differences ( t=-3.73--2.03, P<0.05). The total CTQ score, emotional abuse, physical abuse, and physical neglect factor scores of the CHR group (40.0 (36.0, 50.8), 7.5 (6.0, 10.0), 5.0 (5.0, 7.0), 9.0 (7.0, 11.0)) were significantly higher than those of the healthy control group (34.0 (31.0, 40.0), 6.0 (5.0, 8.0), 5.0 (5.0, 6.0), 9.0 (6.0, 10.0) ) ( Z=-4.07--2.06, P<0.05). In the CHR group, the total score of childhood trauma and the score of physical abuse factors were negatively correlated with working memory ( r=-0.29, -0.28, P<0.05), and the total score of cognitive function, attention vigilance, and word learning were negatively correlated with physical neglect ( r=-0.28, -0.26, -0.31, P<0.05). After partial correlation analysis using gender, age, years of education, and total SIPS score as covariates, the aforementioned correlation remained significant. Conclusion:CHR individuals have multiple cognitive deficits, and childhood trauma is more serious. Childhood trauma, especially physical trauma, may affect the cognitive function of CHR individuals.

Objective To examine the influence of hormonal fluctuations on the perioperative outcomes of patients undergoing congenital heart surgery. Methods We conducted a retrospective analysis of clinical data from fertile women diagnosed with congenital heart disease at the Guangdong Provincial People's Hospital, between January 1, 2015, and July 30, 2019. Initially, patients were categorized into groups based on serum progesterone levels: a low progesterone group (n=31) and a high progesterone group (n=153). Furthermore, based on serum estrogen levels, they were divided into a low estrogen group (n=10), a medium estrogen group (n=32), and a high estrogen group (n=118) for comparative analysis. A control group (n=24) consisted of patients who received progesterone injections before their menstrual period. Results We finally included 184 patients. The patients’ average age was 27.6±5.7 years, with 142 (77.17%) presenting with complex congenital heart conditions. There were statistically significant differences in total postoperative standard thoracic drainage volume and postoperative albumin level between the high and low progesterone groups (P<0.05), while other perioperative outcome indicators showed no statistical differences (P>0.05). Among the different serum estrogen level groups, there were statistically significant differences in postoperative blood urea nitrogen levels, total postoperative standard thoracic drainage volume, and hospital stay (P<0.05), while other perioperative outcome indicators showed no statistical differences (P>0.05). Conclusion Considering the overall clinical significance, the physiological changes in sex hormone levels appear to have a negligible effect on the perioperative outcomes of fertile women with congenital heart disease.