OBJECTIVE: To explore the molecular basis for a pedigree affected with coagulation factor V (FV) deficiency. METHODS: Clinical data of the patient and his family members was analyzed. Targeted capture and next-generation sequencing (NGS) and Sanger sequencing were carried out to detect potential variant of the FV gene. RESULTS: The patient presented with jaundice and prolonged prothrombin time (PT) and activated partial thromboplastic time (APTT). V factor activity measured only 0.1% of the normal level, though the patient had no sign of bleeding. A paternal heterozygous variant c.653T>C (p.F218S) and a maternal heterozygous variant c.3642_3643del (p.P1215Rfs*175) were identified in the FV gene of the patient. His elder brother was a heterozygous carrier of the c.653T>C (p.F218S) variant. c.653T>C(p.F218S) was a known pathogenic variant, while the c.3642_3643del (p.P1215Rfs*175) variant was unreported previously. CONCLUSION Mutations of the FV gene probably underlie the hereditary coagulation factor V deficiency in this patient. NGS combined with Sanger sequencing has detected potential variant with efficiency and provided a reliable basis for clinical and prenatal diagnosis for this family.
Aged ; Factor V ; Factor V Deficiency ; genetics ; Genetic Variation ; Heterozygote ; Humans ; Male ; Mutation ; Pedigree ; Phenotype

[Objective] To evaluate the clinical efficacy and safety of different chemotherapeutic regimens combined with sintilimab as first-line treatment for Her-2 negative advanced gastric cancer. [Methods] We retrospectively collected the clinical data of patients with Her-2 negative advanced gastric cancer treated with albumin-bound paclitaxel plus S-1 combined with sintilimab (n=40) and oxaliplatin plus S-1 combined with sintilimab (n=36) at The Affiliated Hospital of Xuzhou Medical University from September 1, 2021 to July 1, 2023. The clinical efficacy and adverse reactions were evaluated separately in patients treated with albumin-bound paclitaxel plus S-1 combined with sintilimab and in those treated with oxaliplatin plus S-1 combined with sintilimab. Factor analysis was made on two sets of clinical data separately. [Results] The objective response rate (ORR) of albumin-bound paclitaxel group and oxaliplatin group was 57.5% and 52.8%, respectively. The disease control rate (DCR) of albumin-bound paclitaxel group and oxaliplatin group was 85.0% and 80.6%, respectively. The median progression-free survival (PFS) of patients in albumin-bound paclitaxel group and oxaliplatin group was 8.3 months and 9.0 months. The incidence of adverse reactions in albumin-bound paclitaxe group was 87.5% (35/40), and that in the oxaliplatin group was 91.7% (33/36). Factor analysis of the clinical data of albumin-bound paclitaxel group and oxaliplatin group revealed that liver metastasis was an independent risk factor for PFS. [Conclusion] Both albumin-bound paclitaxel combined with S-1 and sintilimab, and oxaliplatin combined with S-1 and sintilimab show promising efficacy and manageable side effects when used as first-line treatment for Her-2 negative advanced gastric cancer.

Objective     To evaluate the early clinical outcomes of the Renatus® balloon-expandable valve in the treatment of severe aortic stenosis. Methods    From November 2021 to April 2022, a total of 38 patients who received Renatus® balloon-expandable valve for severe aortic stenosis in Guangdong Provincial People's Hospital were included. There were 22 males and 16 females, with an average age of 73.7±5.3 years. Mean aortic gradient and peak aortic jet velocity at baseline, post-procedure, and follow-up were compared. Clinical outcomes including all-cause mortality, perivalvular leakage, serious adverse cardiovascular events and the occurrence of permanent pacemaker implantation were assessed. Results    All patients completed the procedure successfully without conversion to thoracotomy or perioperative death. The post-implant mean aortic pressure gradient was decreased from 41.5 (27.8, 58.8) mm Hg to 6.0 (3.0, 8.0) mm Hg, and the peak aortic jet velocity was also decreased from 4.1±0.9 m/s to 1.7±0.4 m/s (P<0.001). Pacemakers were required in 2 (5.3%) patients. The median follow-up time was 27.5 (23.0, 87.5) d, with a follow-up rate of 100.0%. The mean aortic gradient was 8.0 (7.0, 10.8) mm Hg and peak aortic jet velocity was 2.0±0.3 m/s, showing significant improvement compared with those in the preoperative period (P<0.001). No severe aortic regurgitation or paravalvular leak was observed. There was no serious cardiovascular adverse event or reoperative event during the study period. Conclusion    Transcatheter aortic valve replacement with the domestic Renatus® balloon-expandable valve system is a safe and effective procedure for selected patients with severe aortic stenosis who are at high risk or not candidates for surgical aortic valve replacement.

Objective To analyze the long-term outcome of modified Morrow surgery (interventricular septal cardiomyectomy) in the treatment of hypertrophic obstructive cardiomyopathy (HOCM) in children. Methods The clinical data of the children with HOCM (aged≤14 years) who underwent modified Morrow surgery from January 2010 to August 2022 in Guangdong Provincial People's Hospital were retrospectively analyzed, including changes in hospitalization status, perioperative period, and long-term 15-lead electrocardiogram and echocardiography. Results A total of 29 patients were collected, including 22 males and 7 females, aged 10.00 (5.00, 12.00) years. Five (17.9%) patients had New York Heart Association (NYHA) heart function grade Ⅲ or Ⅳ. Ventricular septal cardiomyectomy was performed in all patients. All 29 patients survived and their cardiac function recovered after operation. Before discharge, right bundle branch block was observed in 2 patients and left bundle branch block in 6 patients. After surgery, in the left ventricular septal cardiomyectomy, the left atrial diameter decreased (P＜0.001), left ventricular end-systolic diameter increased (P=0.009), the peak pressure gradient of left ventricular outflow tract decreased (P＜0.001), and the thickness of ventricular septum decreased (P＜0.001). The systolic anterior motion of mitral valve disappeared and mitral regurgitent jet area decreased (P＜0.001). The flow velocity and peak pressure gradient of right ventricular outflow tract also decreased in the patients who underwent right ventricular septal cardiomyectomy. The average follow-up of the patients was 69.03±10.60 months. All the patients survived with their NYHA cardiac function grading Ⅰ or Ⅱ. No new-onset arrythmia event was found. Echocardiography indicated that the peak pressure gradient of the left ventricular outflow tract remained low (P<0.001). Moderate mitral regurgitation occurred in 2 patients, and left ventricular outflow tract obstruction with moderate mitral regurgitation occurred in 1 patient after simple right ventricular septal cardiomyectomy. Conclusion Right ventricular or biventricular obstruction is frequent in the children with HOCM and they usually have more symptoms before surgery. Modified Morrow surgery can effectively relieve outflow tract obstruction and improve their cardiac function. The long-term outcome is satisfactory. However, the posterior wall of the left ventricle remains hypertrophic. Also, there is an increased risk of a conduction block.