Objective:To evaluate the clinical efficacy of autologous bone marrow nucleated cell transplantation on ovarian dysfunction-related diseases.Methods:From September 2020 to August 2021, we conducted a before-after study in Shanghai Institute of Planned Parenthood Research Hospital and Shanghai New Hongqiao International Medical Center. A total of 28 patients with premature ovarian insufficiency, perimenopausal syndrome or repeated assisted reproduction failure were treated with ultrasound-guided autologous bone marrow nucleated cell transplantation into the ovaries. Clinical efficacy was evaluated by comparing the patients' self-reported symptoms, endometrial thickness, bilateral ovarian volume, the number of bilateral ovarian follicles, the maximum diameter of bilateral ovarian follicles, and the level of plasma estradiol, follicle-stimulating hormone (FSH), luteinizing hormone (LH), progesterone, prolactin, and testosterone.Results:After autologous bone marrow nucleated cell transplantation, the number of bilateral ovarian follicles and the maximum diameter of bilateral ovarian follicles statistically significantly increased by an average of 1.26±2.12 ( P=0.005) and (5.40±8.92) mm ( P=0.006), respectively. Endometrial thickness and bilateral ovarian volume increased after treatment although without statistically significance (all P>0.05). However, the ovarian volume, the number of follicles, and the maximum diameter of follicles with greater changes between the left and right sides of the treatment, were found to statistically significantly increase after treatment ( P=0.007, P<0.001, P=0.002). Besides, the levels of FSH, LH, progesterone, and prolactin decreased with no statistical significance (all P>0.05). The stratified analysis of disease types found that endometrial thickness, the number of bilateral ovarian follicles, and the maximum diameter of bilateral ovarian follicles after treatment tended to increase, but only the number of bilateral follicles and the maximum diameter of bilateral ovarian follicles in patients with perimenopausal syndrome showed statistical significance ( P=0.008, P=0.047). Conclusion:The present study suggested that autologous bone marrow nuclear cell therapy could improve ovarian function to some extent, and is expected to be a new treatment method for patients with premature ovarian insufficiency, perimenopausal syndrome, and repeated assisted reproduction failure. However, further studies with larger sample sizes are needed to corroborate the findings.

Objective:To evaluate the clinical efficacy of autologous bone marrow nucleated cell transplantation on ovarian dysfunction-related diseases.Methods:From September 2020 to August 2021, we conducted a before-after study in Shanghai Institute of Planned Parenthood Research Hospital and Shanghai New Hongqiao International Medical Center. A total of 28 patients with premature ovarian insufficiency, perimenopausal syndrome or repeated assisted reproduction failure were treated with ultrasound-guided autologous bone marrow nucleated cell transplantation into the ovaries. Clinical efficacy was evaluated by comparing the patients' self-reported symptoms, endometrial thickness, bilateral ovarian volume, the number of bilateral ovarian follicles, the maximum diameter of bilateral ovarian follicles, and the level of plasma estradiol, follicle-stimulating hormone (FSH), luteinizing hormone (LH), progesterone, prolactin, and testosterone.Results:After autologous bone marrow nucleated cell transplantation, the number of bilateral ovarian follicles and the maximum diameter of bilateral ovarian follicles statistically significantly increased by an average of 1.26±2.12 ( P=0.005) and (5.40±8.92) mm ( P=0.006), respectively. Endometrial thickness and bilateral ovarian volume increased after treatment although without statistically significance (all P>0.05). However, the ovarian volume, the number of follicles, and the maximum diameter of follicles with greater changes between the left and right sides of the treatment, were found to statistically significantly increase after treatment ( P=0.007, P<0.001, P=0.002). Besides, the levels of FSH, LH, progesterone, and prolactin decreased with no statistical significance (all P>0.05). The stratified analysis of disease types found that endometrial thickness, the number of bilateral ovarian follicles, and the maximum diameter of bilateral ovarian follicles after treatment tended to increase, but only the number of bilateral follicles and the maximum diameter of bilateral ovarian follicles in patients with perimenopausal syndrome showed statistical significance ( P=0.008, P=0.047). Conclusion:The present study suggested that autologous bone marrow nuclear cell therapy could improve ovarian function to some extent, and is expected to be a new treatment method for patients with premature ovarian insufficiency, perimenopausal syndrome, and repeated assisted reproduction failure. However, further studies with larger sample sizes are needed to corroborate the findings.

To investigate the mutation site of pathogenic gene in patients with hypertrophic cardiomyopathy (HCM) and to analyze the relationship between the genotype and clinical phenotype. Methods: Targeted exon capture sequencing was conducted in a HCM proband for 30 coding exons related HCM gene by all exon amplification and high-throughput sequencing. Furthermore, Sanger sequencing was performed in other family member and in 200 healthy volunteers for verification. The familial investigation included in clinical presentation, physical examination, electrocardiogram and echocardiography. Results: There were 3/6 blood relatives carrying cardiac myosin-binding protein gene MyBPC3 G772A heterozygous mutation, the mutation site was at 258 amino acid of MyBPC3 as glutamic acid (Glu) was substitute to lysine (Lys), such mutation was not found in rest of family member and not in healthy volunteers. The onset of proband and her daughter was rather late, they had palpitation and chest tightness; echocardiography showed interventricular septum basal segment thickening (16-18) mm. Proband was complicating paroxysmal ventricular tachycardia, malignant arrhythmia and heart failure, the maximum pressure gradient of left ventricular outflow was 56 mmHg, which with the high risk for sudden death. Conclusion: Comprehensive gene test has been helpful for clinical stratification, early diagnosis and treatment. MYBPC3 site mutation c.G772A might be the pathogenic mutation in that specific HCM family.