Objective To compare the mid- and long-term clinical results of mitral valve plasty (MVP) and mitral valve replacement (MVR) in the treatment of functional mitral regurgitation (FMR). Methods Patients with FMR who underwent surgical treatment in the Department of Cardiovascular Surgery of the General Hospital of Northern Theater Command from 2012 to 2021 were collected. The patients who underwent MVP were divided into a MVP group, and those who underwent MVR into a MVR group. The clinical data and mid-term follow-up efficacy of two groups were compared. Results Finally 236 patients were included. There were 100 patients in the MVP group, including 53 males and 47 females, with an average age of (61.80±8.03) years. There were 136 patients in the MVR group, including 72 males and 64 females, with an average age of (61.29±8.97) years. There was no statistical difference in baseline data between the two groups (P＞0.05). There was no statistical difference between the two groups in the extracorporeal circulation time, aortic occlusion time, postoperative hospital and ICU stay, intraoperative blood loss, or hospitalization death (P＞0.05), but the time of mechanical ventilation in the MVP group was significantly shorter than that in the MVR group (P=0.022). The total follow-up rate was 100.0%, the longest follow-up was 10 years, and the average follow-up time was (3.60±2.55) years. There were statistical differences in the left atrial diameter, left ventricular end-diastolic diameter, left ventricular end-systolic diameter and cardiac function between the two groups compared with those before surgery (P<0.05). The postoperative left ventricular ejection fraction in the MVP group was statistically higher than that before surgery (P=0.002), but there was no statistical difference in the MVR group before and after surgery (P=0.658). The left atrial diameter in the MVP group was reduced compared with the MVR group (P=0.026). The recurrence rate of mitral regurgitation in the MVP group was higher than that in the MVR group, and the difference was statistically significant (10.0% vs. 1.5%, P=0.003). There were 14 deaths in the MVP group and 19 in the MVR group. The cumulative survival rate (P=0.605) and cardiovascular events-free survival rate (P=0.875) were not statistically significant between the two groups by Kaplan-Meier survival analysis. Conclusion The safety, and mid- and long-term clinical efficacy of MVP in the treatment of FMR patients are better than MVR, and the left atrial and left ventricular diameters are statistically reduced, and cardiac function is statistically improved. However, the surgeon needs to be well aware of the indications for the MVP procedure to reduce the rate of mitral regurgitation recurrence.

Objective To investigate the safety and efficacy of mitral valve replacement combined with cryoablation Maze surgery in patients with atrial functional mitral regurgitation (AFMR). Methods From January 2014 to June 2020, patients with AFMR who underwent mitral valve replacement in our department were enrolled. They were divided into two groups, a cryoablation Maze group who received cryoablation Maze surgery during mitral valve replacement, and a non-cryoablation Maze group who did not receive cryoablation Maze surgery. The baseline data, surgical data, efficacy, and prognosis between the two groups were compared. Results Finally 85 patients were enrolled. There were 16 males and 24 females with an average age of 58.65±6.86 years in the cryoablation Maze group, and 24 males and 21 females with an average age of 61.29±8.30 years in the non-cryoablation Maze group. There was no statistical difference in baseline data between the two groups (P＞0.05). The aortic occlusion time and extracorporeal circulation time of the cryoablation Maze group were longer than those of the non-cryoablation Maze group with statistical differences (P＜0.01). There was no statistical difference in postoperative ICU retention time, ventilator assistance time, length of hospital stay, intraoperative blood loss, drainage volume on the first day or occurrence rate of complications (temporary pacemaker application, electrical cardioversion, thoracic puncture drainage, hospitalization death) between the two groups (P＞0.05). At the time of discharge, postoperative 3-month, 6-month, 12-month, and 24-month, the maintenance rates of sinus rhythm in the non-cryoablation Maze group were statistically different from those of the cryoablation Maze group (P＜0.001). Compared with the non-cryoablation Maze group, the decrease values of left atrial diameter, left ventricular end-diastolic diameter, left ventricular end-systolic diameter and pulmonary artery systolic pressure were statistically different (P＜0.05). Postoperative cardiac function grading of both groups was grade Ⅰ or Ⅱ, which was significantly improved compared with preoperative level, but there was no statistical significance between the two groups (P＞0.05). There was no statistical difference in the incidence of adverse events during follow-up (P＞0.05). Conclusion Cryoablation Maze surgery combined with mitral valve replacement is safe and effective in the treatment of AFMR patients, which is conducive to the recovery and maintenance of sinus rhythm, and is beneficial to the remodeling of the left atrium and left ventricle, the reduction of pulmonary systolic blood pressure, and the improvement of life quality of the patients.

Objective:To observe and evaluate the clinical efficacy and safety of albumin-bound paclitaxel as first-line treatment for patients with advanced pancreatic cancer in China, and to explore the prognosis-related molecules in pancreatic cancer based on next-generation sequencing (NGS) of tumor tissues.Methods:From December 2018 to December 2020, patients with locally advanced or metastatic pancreatic cancer were recruited to accept albumin-bound paclitaxel as first-line treatment in the oncology departments of 24 hospitals in East China. The primary endpoints were overall survival (OS) and treatment related adverse events, and the secondary endpoint was progression-free survival (PFS). Adverse effects were graded using Common Terminology Criteria for Adverse Events 5.0 (CTCAE 5.0). NGS sequencing on the primary or metastatic tissue samples of pancreatic cancer obtained through surgical resection or biopsy was performed.Results:This study recruited 229 patients, including 70 patients with locally advanced pancreatic cancer (LAPC) and 159 patients with metastatic pancreatic cancer (mPC). The disease control rate was 79.9% and the objective response rate is 36.3%.The common adverse effects during treatment were anaemia (159 cases), leucopenia (170 cases), neutropenia (169 cases), increased aminotransferases (110 cases), and thrombocytopenia (95 cases), and the incidence of grade 3-4 neutropenia is 12.2% (28/229). The median follow-up time was 21.2 months (95% CI: 18.5-23.1 months). The median PFS (mPFS) was 5.3 months (95% CI: 4.37-4.07 months) and the median OS (mOS) was 11.2 months (95% CI: 9.5-12.9 months). The mPFS of patients with LAPC was 7.4 months (95% CI: 6.6-11.2 months), and their mOS was 15.5 months (95% CI: 12.6-NA months). The mPFS of patients with mPC was 3.9 months (95% CI: 3.4-5.1 months), and their mOS was 9.3 months (95% CI: 8.0-10.8 months). Multivariate Cox regression analysis showed that clinical stage ( HR=1.47, 95% CI: 1.06-2.04), primary tumor site ( HR=0.64, 95% CI: 0.48-0.86), Eastern Cooperative Oncology Group Performance Status (ECOG PS) score ( HR=2.66, 95% CI: 1.53-4.65), and whether to combine radiotherapy ( HR=0.65, 95% CI: 0.42-1.00) were independent influencing factors for the PFS of these patients. The primary tumor site ( HR=0.68, 95% CI: 0.48-0.95), ECOG score ( HR=5.82, 95% CI: 3.14-10.82), and whether to combine radiotherapy ( HR=0.58, 95% CI: 0.35-0.96) were independent influencing factors of the OS of these patients. The most frequent gene mutations in these advanced stage pancreatic patients were KRAS (89.66%), TP53 (77.01%), CDKN2A (32.18%), and SMAD4 (21.84%) by NGS of tumor tissues from 87 pancreatic cancer patients with sufficient specimens. Further analysis revealed that mutations in CDKN2B, PTEN, FGF6, and RBBP8 genes were significantly associated with an increased risk of death ( P＜0.05). Conclusion:Albumin-bound paclitaxel as first-line treatment demonstrated feasible anti-tumor efficacy and manageable safety for patients with advanced pancreatic cancer in China.

Objective:To observe and evaluate the clinical efficacy and safety of albumin-bound paclitaxel as first-line treatment for patients with advanced pancreatic cancer in China, and to explore the prognosis-related molecules in pancreatic cancer based on next-generation sequencing (NGS) of tumor tissues.Methods:From December 2018 to December 2020, patients with locally advanced or metastatic pancreatic cancer were recruited to accept albumin-bound paclitaxel as first-line treatment in the oncology departments of 24 hospitals in East China. The primary endpoints were overall survival (OS) and treatment related adverse events, and the secondary endpoint was progression-free survival (PFS). Adverse effects were graded using Common Terminology Criteria for Adverse Events 5.0 (CTCAE 5.0). NGS sequencing on the primary or metastatic tissue samples of pancreatic cancer obtained through surgical resection or biopsy was performed.Results:This study recruited 229 patients, including 70 patients with locally advanced pancreatic cancer (LAPC) and 159 patients with metastatic pancreatic cancer (mPC). The disease control rate was 79.9% and the objective response rate is 36.3%.The common adverse effects during treatment were anaemia (159 cases), leucopenia (170 cases), neutropenia (169 cases), increased aminotransferases (110 cases), and thrombocytopenia (95 cases), and the incidence of grade 3-4 neutropenia is 12.2% (28/229). The median follow-up time was 21.2 months (95% CI: 18.5-23.1 months). The median PFS (mPFS) was 5.3 months (95% CI: 4.37-4.07 months) and the median OS (mOS) was 11.2 months (95% CI: 9.5-12.9 months). The mPFS of patients with LAPC was 7.4 months (95% CI: 6.6-11.2 months), and their mOS was 15.5 months (95% CI: 12.6-NA months). The mPFS of patients with mPC was 3.9 months (95% CI: 3.4-5.1 months), and their mOS was 9.3 months (95% CI: 8.0-10.8 months). Multivariate Cox regression analysis showed that clinical stage ( HR=1.47, 95% CI: 1.06-2.04), primary tumor site ( HR=0.64, 95% CI: 0.48-0.86), Eastern Cooperative Oncology Group Performance Status (ECOG PS) score ( HR=2.66, 95% CI: 1.53-4.65), and whether to combine radiotherapy ( HR=0.65, 95% CI: 0.42-1.00) were independent influencing factors for the PFS of these patients. The primary tumor site ( HR=0.68, 95% CI: 0.48-0.95), ECOG score ( HR=5.82, 95% CI: 3.14-10.82), and whether to combine radiotherapy ( HR=0.58, 95% CI: 0.35-0.96) were independent influencing factors of the OS of these patients. The most frequent gene mutations in these advanced stage pancreatic patients were KRAS (89.66%), TP53 (77.01%), CDKN2A (32.18%), and SMAD4 (21.84%) by NGS of tumor tissues from 87 pancreatic cancer patients with sufficient specimens. Further analysis revealed that mutations in CDKN2B, PTEN, FGF6, and RBBP8 genes were significantly associated with an increased risk of death ( P＜0.05). Conclusion:Albumin-bound paclitaxel as first-line treatment demonstrated feasible anti-tumor efficacy and manageable safety for patients with advanced pancreatic cancer in China.

The clinical data, diagnosis and treatment of a child with Robinow syndrome (RS) caused by the DVL1 gene mutation, who was treated in the Department of Endocrinology, Genetics and Metabolism, Children′s Hospital of Nanjing Medical University in May 2023, were retrospectively analyzed.The male child, 2 years old, presented with 2 years of external genital abnormality.The main clinical features included intrauterine growth retardation, external genital abnormalities, craniofacial anomalies, skeletal malformations and congenital heart diseases.Whole exome sequencing revealed that the patient carried a heterozygous mutation c. 1529delG(p.G510Vfs*139) in exon 14 of the DVL1 gene.Cases of the DVL1 gene mutation have not been documented in Chinese.A review of literature identified 25 (including the case in this report) cases of RS in children attributed to DVL1 gene mutations, revealing common clinical features such as craniofacial anomalies, skeletal malformations, external genital abnormalities, heart diseases, short stature, and hearing impairments.Cognitive abilities are typically unaffected, and reproductive function remains normal.Notably, 19 identified DVL1 gene mutations are clustered within a specific genomic region (c.1496-c.1631), with no discernible genotype-phenotype correlation observed.

The clinical data, diagnose and treatment of a child with familial glucocorticoid deficiency (FGD) caused by the NNT gene mutation who was treated in the Department of Endocrinology, Children′s Hospital Affiliated to Nanjing Medical University in November 2014 were retrospectively analyzed.The female child with 1 year and 5 months old presented with 6 months of skin pigmentation.Laboratory examinations showed decreased cortisol and increased adrenocorticotropic hormone.During the follow-up period, she developed convulsions and precocious puberty.Whole exome sequencing revealed that the patient carried a homozygous mutation c. 1054G > A (p.G352R) in exon 8 of the NNT gene, which was a newly reported gene mutation.Domestic cases of FGD caused by the NNT gene mutation has never been reported yet.Through literature review of a total of 40 reported children with FGD caused by the NNT gene mutation, typical manifestations included skin pigmentation, hypoglycemia and seizures, alongside mineralocorticoid deficiency, precious puberty, abnormal male gonadal development, thyroid diseases and heart diseases.

Objective:To screen the key exosomal long non-coding RNAs (lncRNAs) molecules that cause nasopharyngeal carcinoma cells to develop chemoradiotherapy resistance.Methods:In vitro, a model of concurrent chemoradiotherapy for human nasopharyngeal carcinoma cells was constructed, and the continuous shock method of high-dose concurrent chemoradiotherapy was used to induce the establishment of chemoradiotherapy-resistant nasopharyngeal carcinoma cell lines, and its resistance formation was verified. Exosomes produced by chemoradiotherapy-resistant cell lines and respective mother cell lines for nasopharyngeal carcinoma were extracted and identified. Finally, biochip technology was used to detect the differential expression levels of exosomal lncRNAs. Results:After 10 repeated treatments of concurrent chemoradiotherapy, CNE-1 CRR and CNE-2 CRR were successfully obtained. Compared with the mother cell lines, CNE-1 CRR and CNE-2 CRR had a tendency to transform from epithelial to interstitial morphology, and the number of cell clones was higher, and the values of average lethal dose (D 0), quasi-threshould dose (D q), survival fraction after 2 Gy irradiation (SF 2) and cell survival rate were higher. Nasopharyngeal carcinoma cells were detected by PCR chip of exosomal lncRNAs. Compared with their respective mother cell lines, 18 lncRNAs in CNE-1 CRR exosomes were significantly up-regulated and 31 lncRNAs were significantly down-regulated, and 15 lncRNAs were significantly up-regulated and 38 lncRNAs were significantly down-regulated in CNE-2 CRR exosomes. CNE-1 CRR also had similar expression profiles to CNE-2 CRR. Conclusion:There are significantly up-regulated and down-regulated lncRNAs in the exosomes of CNE-1 CRR and CNE-2 CRR.

Objective:To observe the effect of taping on the kinematic characteristics of the ankle joint during forward and lateral jumps by male basketball players with chronic ankle instability (CAI).Methods:A Vicon 3D motion capture system and a Kistler 3D ergometer were used to collect data describing the landing data with or without taping from forward and lateral jumps of 29 male basketball players with CAI. The landing data included the dorsiflexion and plantarflexion angles, valgus and inversion angles and external and internal rotation angles. Dorsiflexion or plantarflexion angular velocity was also recorded along with valgus or inversion angular velocity and external or internal rotation angular velocity 200ms, 150ms, 100ms and 50ms before and after touchdown. The data obtained were modeled using three-dimensional motion analysis software, and then analyzed.Results:Taping reduced the ankle plantarflexion in landing from a forward jump by 3.27° 50ms before landing and by 2.70° at touchdown. The ankle inversion angle was reduced 2.13° 50ms before touchdown, while the angle of external rotation decreased by 2.59° 200ms before touchdown and 2.17° 150ms before. Moreover, the angle of external rotation 100ms after landing was reduced by a significant 1.59° compared with that without taping. In lateral jumps taping reduced the average ankle plantarflexion angle by 1.94° 50ms before landing and 3.23° at touchdown compared with no taping. Ankle inversion was reduced significantly by 2.86° 50ms before landing and by 2.87° at touchdown. External rotation was a significant 0.93° less 200ms before landing and 2.36° smaller 150ms before touchdown. In the forward jump landing, taping reduced the average angular velocity of ankle dorsiflexion on landing by a significant 58.5°/s and by 28.39°/s 100ms later. In the lateral jump landings the average ankle dorsiflexion velocity decreased by significant 20.5°/s with taping, but the valgus velocity increased by 49.7°/s compared with no taping. However, 50ms after touchdown the speed of external rotation with taping was 30.3°/s slower than without taping.Conclusions:Ankle taping can modify ankle rotation angles and angular velocities during landing from jumps. This is particularly helpful for basketball players with CAI.

Objective:To examine whether the mixed infection rate in pertussis infants is significantly higher than that in non-pertussis infants with respiratory tract infection, to explore the mixed infection pathogen distribution in pertussis infants, and to provide reference for clinical diagnosis and treatment.Methods:A case-control study was conducted on 118 nasopharyngeal swabs collected from infants who applied for clinical pertussis etiological testing (culture and specific nucleic acid detection of Bordetella pertussis) in Beijing Children′s Hospital, Jiaxing Maternity and Child Health Care Hospital and Wuhu No.1 People′s Hospital from August 2018 to January 2021.According to the pertussis etiological testing results, the patients were divided into the pertussis group (65 cases) and non-pertussis group (53 cases). Thirty-three pairs of cases were matched according to age, onset season and city.All nasopharyngeal swabs were tested for infections of other pathogens using FilmArray RP2, which can detect 21 respiratory infection pathogens.The mixed infection rate was compared between groups by Chi- square test. Results:According to the FilmArray RP2 test results, 56.9%(37/65) cases in pertussis group and 15.1%(8/53) cases in the non-pertussis group were positive for multiple pathogens, and the difference was statistically significant ( χ2=21.651, P<0.001). The top 5 mixed infection pathogens in pertussis infants were human rhinovirus/enterovirus (HRV/EV) (38.5%, 25/65), parainfluenza virus (PIV) (18.5%, 12/65), respiratory syncytial virus (RSV) (10.8%, 7/65), coronavirus (Cov) (10.8%, 7/65), and adenovirus (ADV) (7.7%, 5/65). The mixed infection rates of the pertussis group in spring, summer, autumn and winter were 46.2% (6/13), 58.3%(14/24), 55.6%(5/9), and 63.2%(12/19), respectively.Comparison of matched and unmatched cases achieved similar results. Conclusions:Among clinical suspected pertussis infant specimens, the mixed infection rate in confirmed cases is tremendously higher than that in non-pertussis infants.The main mixed infection pathogens in pertussis infants are HRV/EV, PIV, RSV, Cov, and ADV.Mixed infection in pertussis children commonly occurs in four seasons, with the highest incidence in winter.

Graves disease(GD) is the most common cause of hyperthyroidism in children.GD is an autoimmune thyroid disease which is based on genetic susceptibility and exacerbated by environmental factors including infection, toxin, drugs and stress.Antithyroid drugs(ATD) are the first-line treatment for GD in children.However, many children relapsed after discontinuing ATD, and the relapse rate between different children varied.Till now, exact cause has not been clarified.Previous studies prove that sex, age, micro-element, goiter size, thyroid hormone level, TRAb level, duration of ATD treatment and genetics may affect prognosis of pediatric GD.Yet predictors precious studies identified were variable.