Objective To evaluate early outcomes of transthoracic pulmonary valve implantation for the treatment of moderate and severe pulmonary regurgitation by using homemade self-expanding valve (SalusTM). Methods Patients with severe pulmonary regurgitation who underwent transthoracic pulmonary valve implantation in Guangdong Provincial People’s Hospital from September 2, 2021 to November 25, 2022 were prospectively enrolled. The early postoperative complications and improvement of valve and heart function were summarized and analyzed. Results A total of 25 patients were enrolled, including 16 males and 9 females, with an average age of 24.5±1.5 years and an average weight of 57.0±3.0 kg. The mean systolic diameters of the bifurcation near the main pulmonary artery, the stenosis of the middle segment of the aorta and near the valve of the right ventricular outflow tract of the patients were 31.8±7.4 mm, 30.6±5.9 mm and 38.4±8.0 mm, respectively. All patients were successfully implanted with valves, and there were no serious complications such as death, coronary compression, stent fracture, valve displacement and infective endocarditis in the early postoperative period. The indexed left atrial longitudinal diameter, indexed right atrial longitudinal diameter, and indexed right ventricular outflow tract anteroposterior diameter decreased significantly after the operation. The degree of tricuspid and pulmonary valve regurgitation and the indexed regurgitation area decreased significantly. The above differences were statistically significant (P<0.05). Conclusion The early outcomes of transthoracic pulmonary valve implantation with homemade self-expanding pulmonary valve (SalusTM) in the treatment of severe pulmonary regurgitation is relatively good, and the long-term outcomes need to be verified by the long-term follow-up studies with large samples.

Objective To comprehensively analyze the clinical outcomes of total cavopulmonary connection (TCPC) in the treatment of functional single ventricle combined with heterotaxy syndrome (HS). Methods A retrospective analysis was conducted on the patients with functional single ventricle and HS who underwent TCPC (a HS group) in Guangdong Provincial People's Hospital between 2004 and 2021. The analysis focused on postoperative complications, long-term survival rates, and identifying factors associated with patient survival. Early and late postoperative outcomes were compared with matched non-HS patients (a non-HS group). Results Before propensity score matching, 55 patients were collected in the HS group, including 42 males and 13 females, with a median age of 6.0 (4.2, 11.8) years and a median weight of 17.0 (14.2, 28.8) kg. Among the patients, there were 53 patients of right atrial isomerism and 2 patients of left atrial isomerism. Eight patients underwent TCPC in one stage. TCPC procedures included extracardiac conduit (n=39), intracardiac-extracardiac conduit (n=14), and direct cavopulmonary connection (n=2). Postoperative complications included infections in 27 patients, liver function damage in 19 patients, and acute kidney injury in 11 patients. There were 5 early deaths. The median follow-up time was 94.7 (64.3, 129.8) months. The 1-year, 5-year, and 10-year survival rates were 87.2%, 85.3%, and 74.3%, respectively. After propensity score matching, there were 45 patients in the HS group and 81 patients in the non-HS group. Compared to the non-HS group, those with HS had longer surgical and mechanical ventilation time, higher infection rates (P<0.05), and a 12.9% lower 10-year survival rate. Multivariate Cox regression analysis identified asplenia was a risk factor for mortality (HR=8.98, 95%CI 1.86-43.34, P=0.006). Conclusion Compared to non-HS patients, patients with HS have lower survival rates after TCPC, and asplenia is an independent risk factor for the survival of these patients.

Objective To analyze and summarize the early and medium-term outcomes of self-expanding interventional pulmonary valve stent (SalusTM) for right ventricular outflow tract dysfunction with severe pulmonary valve regurgitation. Methods We established strict enrollment and follow-up criteria. Patients who received interventional pulmonary valve in transthoracic implantation in Guangdong Provincial People’s Hospital from September 2, 2021 to July 18, 2023 were prospectively included, and all clinical data of patients were collected and analyzed. Results A total of 38 patients with severe pulmonary regurgitation were included, with 23 (60.5%) males and 15 (39.5%) females. The mean age was 24.08±8.12 years, and the mean weight was 57.66±13.54 kg. The preoperative mean right ventricular end-diastolic volume index (RVEDVI) and right ventricular end-systolic volume index (RVESVI) were 151.83±42.84 mL/m2 and 83.34±33.05 mL/m2, respectively. All patients successfully underwent transcatheter self-expandable pulmonary valve implantation, with 3 (7.9%) patients experiencing valve stent displacement during the procedure. Perioperative complications included 1 (2.6%) patient of postoperative inferior wall myocardial infarction and 1 (2.6%) patient of poor wound healing. The median follow-up time was 12.00 (6.00, 17.50) months. During the follow-up period, there were no deaths or reinterventions, and no patients had recurrent severe pulmonary regurgitation. Three (7.9%) patients experienced chest tightness and chest pain, and 1 (2.6%) patient developed frequent ventricular premature beats. Compared with preoperative values, the right atrial diameter, right ventricular diameter, and tricuspid annular plane systolic excursion were significantly reduced at 6 months and 1 year postoperatively, with improvement in the degree of pulmonary regurgitation (P<0.01). Compared with preoperative values, RVEDVI and RVESVI decreased to 109.51±17.13 mL/m2 and 55.88±15.66 mL/m2, respectively, at 1 year postoperatively (P<0.01). Conclusion 　Self-expanding interventional pulmonary valve in transthoracic implantation is safe and effective for severe pulmonary valve regurgitation and shows good clinical and hemodynamic results in one-year outcome.

Objective:To investigate the phenotypes of Rubinstein-Taybi syndrome (RSTS) caused by variants in the CREBBP or EP300 gene, and the correlation between genotype and phenotype.Methods:This case series study was performed on pediatric patients who were referred to the Children′s Hospital of Capital Institute of Pediatrics between January 2013 and July 2022. Both point variant and copy number deletion in CREBBP or EP300 gene were detected by whole exome sequencing, chromosomal microarray analysis, or copy number variation sequencing (CNV-seq). The variant categories were summarized and phenotype numbers were re-visited for RSTS patients. Based on variant types, the patients were divided into different groups (point variant or copy number deletion, EP300 or CREBBP point variant, and loss of function or missense variant). Phenotype counts between different groups were compared using the rank-sum test of two independent samples.Results:A total of 21 RSTS patients were recruited, including 12 males and 9 females, with ages ranging from 1 month to 14 years and 2 months. Among them, 67% (14/21) had point variants, and 33% (7/21) had copy number deletions. Out of these, 20 variants (95%) were de novo. Among 20 patients finishing phenotype count during re-visit, 95% (19/20) of the patients exhibited developmental delays before the age of 2 years. Additionally, 80% (16/20) of the patients had distinctive facial features. Considering phenotype count, no statistically significant difference was found between point variant (14 cases) and copy number deletion (6 cases) (5.0 (3.0, 7.0) vs. 5.0 (2.5, 5.3), Z=0.75, P=0.452), CREBBP (10 cases) and EP300 gene (4 cases) point variant (5.0 (3.8, 7.0) vs. 4.0 (2.0, 6.0), Z=1.14, P=0.253), and loss of function (9 cases) and missense (5 cases) variant (6.0 (4.5, 7.0) vs. 3.0 (2.5, 5.5), Z=1.54, P=0.121). Conclusions:Patients with RSTS primarily exhibit developmental delays in early childhood. Specific facial features serve as suggested signs of genetic testing. However, no significant genotype-phenotype correlation is found.

Objective:To compare the changes of serum calcium level before and after surgical resection in patients with primary hyperparathyroidism.Methods:Two hundred and seventy-one patients with primary hyperparathyroidism were enrolled from Dec 1992 to Dec 2020 in Beijing Jishuitan Hospital. Serum calcium concentrations were measured before operation, 20 min during surgery, then 2 weeks 1-6 months , 7-12 months and 1 year respectively after operation. The baseline data of postoperative serum calcium such as sex, age, other genetic endocrine diseases, osteopathia and urolithiasis were calculated. The generalized estimation equation was used to analyze the changes of serum calcium in different types of patients before and after operation.Results:The most common postoperative hypocalcemia occurred within 2 weeks, and it occurred frequently half a year after surgery. There was no significant difference in blood calcium between male patients ( t=0.875, P=1.000) and patients with bone lesions ( t=0.034, P=3.049) from 1 to 6 months after surgery and 2 weeks after surgery. Blood calcium level in patients aged 15-35 years old from 1 to 6 months ( t=0.239, P=1.000) , from 7 to 12 months ( t=1.380, P=0.935) and 2 weeks after surgery was not statistically different. The change of bone mineral density was correlated with the change of blood calcium after operation ( F=6.895, P=0.004). Conclusions:The incidence of hypocalcemia was the highest in patients with hyperparathyroidism 2 weeks after surgery, and the blood calcium level was stable within the normal range 1 year later. The blood calcium value of male patients was still at a lower level than that of female patients within six months after surgery. In patients with bone disease, the blood calcium value was lower and recovered slowly 2 weeks after surgery. The blood calcium value of patients aged 15-35 was at a low level within 1 year after surgery.

Objectiv:To evaluate ultrasound, radionuclide imaging and CT in preoperative localization diagnosis of primary hyperparathyroidism (PHPT).Method:A total of 170 PHPT patients admitted to the hospital between Jan 1992 and Dec 2020 were analyzed retrospectively. The preoperative localization diagnostic efficacy of ultrasonography, radionuclide and CT alone and in combination was compared in groups.Results:The overall sensitivity of ultrasound, radionuclide and CT were 82.13%,80.43% and 75.74%. For normal positioned parathyroid adenoma: as for sensitivity of location diagnosis, ultrasound (86.67%) was higher than radionuclide (81.82%, P<0.05) and CT (80.59%, P<0.05), ultrasound/CT parallel test (94.70%, P<0.05) was higher than ultrasound alone. For specificity of location diagnosis, radionuclide (97.78%) was higher than ultrasound (91.62%) and CT (93.39%), both ultrasound/radionuclide series tests (99.00%, P<0.001)and ultrasound/CT series tests (96.94%, P<0.001) were higher than ultrasound alone. In case of ectopic parathyroid adenoma and parathyroid hyperplasia: the sensitivity and specificity of radionuclide seemed higher than ultrasound and CT. Conclusions:Ultrasound is the first choice for preoperative location diagnosis of PHPT. Ultrasound combined with radionuclide or CT can significantly improve the diagnostic efficiency of parathyroid lesions.

Objective To investigate the potential of Spautin-1 to treat acute pancreatitis by inhibiting impaired autophagy and promoting apoptosis using an acute pancreatitis cell model induced by cerulein in vitro.Methods Pancreatic acinar cells AR42J were treated with sterile saline,100 nmol/L cerulein,and 100 nmol/L cerulein combined with 10 μmol/L spautin-1 for 24 h,respectively,and then western blot was used to detect the expression of LC3,p62 and Beclin1 in the cells to reflect autophagy;the trypsin activity in cells was detected by BGAM.Flow cytometry was used to detect the apoptosis;LDH cytotoxicity assay kit was used to detect cell necrosis.Results The expression of LC3 Ⅰ (0 h-24 h:4.32±0.46,4.68±0.41,5.22± 0.38,5.88 ±0.63),LC3 Ⅱ (0 h-24 h:0.36 ±0.02,0.64 ±0.05,0.93 ±0.08,2.43 ±0.23) and p62 (0 h-24 h:0.24 ± 0.01,0.22 ± 0.02,0.84 ± 0.09,1.25 ± 0.13) was increased in AR42J cell model treated with cerulein (P ＜ 0.05),indicated that cells undergo autophagy,but autophagy flux is blocked.The expression of LC3 Ⅰ (0.65 ± 0.06 vs 0.24 ± 0.01),LC3 Ⅱ (1.26 ± 0.15 vs 0.71 ± 0.08) and p62 (1.06 ± 0.09 vs 0.56 ± 0.06) were decreased after incubated with spautin-1,with the decreased trypsin activity (1.65 ±0.18 vs 1.13 ±0.14),increased apoptosis (6.58 ±4.01 vs 23.64 ±2.12) (P ＜0.05) and reduced cellnecrosis (27.58± 3.46vs7.64 ± 2.12) (P＜0.05).Conclusions Inthe AR42 Jcellmodel ofacute pancreatitis induced by cerulein in vitro,spautin-1 can inhibit impaired autophagy induced by cerulein,decrease trypsin activity,increase apoptosis and reduce cell necrosis to protect pancreatic cells from damage,which has a certain value for remissing and even curing acute pancreatitis.

Objective To study the auditory processing abilities of children with learning difficulty and deter-mine the proportion of the children with auditory processing disorder.Methods A single factor completely random-ized experimental design was used.Seventeen children with learning difficulties and 31 normal children from grade 2 to grade 4 in Beijing were induded in this study.The abilities of low-pass filtered speech,competing sentences,di-chotic digits and frequency patterns were tested through auditory processing disorder screening test software.Results There were significant differences in the abilities of listening sentences and digits in competitive environment and recognizing frequency patterns between children with learning difficulty and without.The auditory processing ability of children with learning difficulties was obviously poorer than normal children.The incidence of auditory processing disorder among the children with learning difficulties was 41.176%~58.824%.Conclusion The auditory process-ing ability in the competitive environment of children with learning difficulties was obviously poorer and they need in-tervention specifically.

Objective To study the influencing factors of the competing sentences test in normal-hearing adults, in order to provide references for the preparation of the competing sentences test with children and the development of the diagnostic tools of the central auditory processing disorders.Methods According to the three kinds of test tables of semantic competition, sentence constituent competition and phonetic competition for the competing sentences test, the 2×3×3 factors mixed experimental design were used to test the 48 normal-hearing adults(forty-six right-handed adults and two left-handed adults) with the competing sentences test.The correct rate was obtained and the influencing factors were analyzed.Results ①The average correct rate of the Competing Sentences Test for the forty-six right-handed normal-hearing adults was 94.98%,and for the two left-handed normal-hearing adults was 96.12%.②The right-handed subjects'' right ear accuracy rate was significantly higher than that of the left ear(P<0.01),while the accuracy rate of the left ear was obviously higher than the right ear with left-handed subjects.③The effects of genders on the results of the competing sentences test was not significant(P>0.05)with the right-handed subjects.④For the results of three types sentences,the correct rate of semantic competition was the highest, the second was the sentence constituent competition and phonetic competition was the lowest with the right-handed subjects.Conclusion No gender factors were found to affect the results of the competing sentences test among adults.The normal-hearing right-handed adults have the right ear advantage in the competing sentences test, prompting us to become concerned about the choice of the ear sides.Different competition types of sentences will have a greater impact on the difficulty of the competing sentences test, so we should pay more attention to this in the preparation of competitive sentences test tables.

RNA has received m ore attention in the field of forensic m edicine and the developm ent of the new biological m arkers based on RNA show s great significance in the analysis of com plex cases. circular RNA (circRNA ) is a kind of non-coding RNA w hich is w idely reported recently. A lthough the regulatory m echanism s of generation and expression are not fully clear, the existing research indicates that circRNA has im portant biological functions. C ircRNA has a cell-type-specific expression w ith great stability and a high expression level, w hich m akes it m eaningful in forensic applications potentially. In this paper, the research progress, the generation and regulation of circRNA as w ell as its biological characteristics and functions are sum m arized, w hich w ill provide references for related studies and foren-sic applications.