Objective To construct and identify the induced pluripotent stem cells(iPSCs)derived from peripheral blood mononuclear cells(PBMCs)of a patient with facioscapulohumeral muscular dystrophy(FSHD),initially explore their differentiation ability into skeletal muscle cells,and evaluate the feasibility of using this cell model for disease mechanism research.Methods The PBMCs from one FSHD patient were collected and transfected with Sendai virus containing four reprogramming transcription factors,including OCT4,SOX2,KLF4 and c-MYC,so as to obtain the iPSCs from the FSHD patient.Then,the iPSCs were induced to differentiate into skeletal muscle cells.The characteristics of the iPSCs and skeletal muscle cells were evaluated by the optical genome mapping technolo-gy,karyotyping analysis,immunofluorescence staining,and real-time fluorescence quantitative PCR.Results The iPSCs from the FSHD patient were successfully obtained,which could express the markers of iPSCs.The karyotype and D4Z4 repeat unit of the iPSCs were consistent with that of the patient.The iPSCs could be induced to differentiate into skeletal muscle cells in vitro,which expressed the pathogenic gene DUX4 and its regulatory genes.Conclusion The PBMCs from one FSHD patient can be reprogrammed into iPSCs,which can be differentiated into disease-related myogenic progenitor cells and myotubes.This provides a useful cell model for in vitro studies of the pathogenesis of FSHD and a tool for the effective treatment of FSHD.

Antibody-drug conjugates(ADCs)are a new type of targeting antibodies that conjugate with highly toxic anticancer drugs via chemical linkers to exert high specificity and efficient killing of tumor cells,thereby attracting considerable attention in precise oncology therapy.Cetuximab(Cet)is a typical antibody that offers the benefits of good targeting and safety for individuals with advanced and inoperable cutaneous squamous cell carcinoma(cSCC);however,its anti-tumor activity is limited to a single use.Cisplatin(CisPt)shows good curative effects;however,its adverse effects and non-tumor-targeting ability are major drawbacks.In this study,we designed and developed a new ADC based on a new cytotoxic platinum(Ⅳ)prodrug(C8Pt(Ⅳ))and Cet.The so-called antibody-platinum(Ⅳ)prodrugs conjugates,named Cet-C8Pt(Ⅳ),showed excellent tumor targeting in cSCC.Specifically,it accurately delivered C8Pt(Ⅳ)into tumor cells to exert the combined anti-tumor effect of Cet and CisPt.Herein,metabolomic analysis showed that Cet-C8Pt(Ⅳ)promoted cellular apoptosis and increased DNA damage in cSCC cells by affecting the vitamin B6 metabolic pathway in tumor cells,thereby further enhancing the tumor-killing ability and providing a new strategy for clinical cancer treatment using antibody-platinum(Ⅳ)prodrugs conjugates.

Sleep-related eating disorder (SRED) is a sleep disorder characterized by repeated involuntary eating and drinking. The clinic of this disease is not rare, but few reports are noted in China; doctors and patients lack of knowledge. This paper reviews the literature on SRED, summarizes the shortcomings of existing research, and proposes future research directions, aiming to provide references for researchers to further explore this field.

Objective: To understand the neglect status among preschool non-only-child in Nantong, and to provide theoretical basis for the prevention and intervention of non-only child neglect. Methods: Using the method of random cluster sampling, a total of 1 141 parents of children from 9 kindergartens in the main urban area of Nantong were investigated with National Neglect Norm Scale for Children aged 3 to 6 years. Results: The neglect rate of preschool children in Nantong City was 28.6%, with neglect score being (40.21±6.67). The neglect rate of non-only-child was 32.6%, with neglect score being (41.14±6.73). The total and physical neglect rate of non-only-child were higher than that of only child, and the total neglect score and physical, emotional, educational, safety, medical neglect dimensional scores were higher than that of only-child, the difference were all statistically significant ( χ 2/ t = 6.21, 17.57; 3.95, 4.98, 3.45, 2.70, 2.01, 3.11, P <0.05). In non-only-child, univariate analysis showed that there were no significant differences in neglect rate and scores among children by gender and family types ( P >0.05); There was no significant difference in the child neglect rate between different age groups and children in different families ( χ 2 =3.59, 2.99, P >0.05), but there was a statistically significant difference in the degree of neglect ( t=2.79, 3.04, P <0.05). The neglect rate and score of non-only-child with high level of family income, parental education and parental relationship was relatively low, while the neglect rate and score in non-only-child whose grandparents serving as primary caregiver were higher ( P <0.05). Multivariate Logistic regression analysis showed that family monthly income less than 5 000 yuan was associated with 2.73 times higher risk of neglect compared to children with family monthly income more than 12 000 yuan. The risk of neglect among children whose grandparents serving as caregivers was associated with 2.17 times higher than children with parental care. The risk of neglect of children with poor parental relationship was 2.29 times higher than that of children with good parental relationship ( P <0.05). Conclusion The neglect among preschool non-only-child in Nantong City is common. Improvement in family economic status, parental care and parent relationship might help reduce neglect among preschool non-only-child.

Exploding head syndrome (EHS) is a sleep disorder that is easily missed diagnosed and misdiagnosed in Neurology. Its long-term existence can seriously affect the quality of life of patients; therefore, early and accurate identification of EHS and early intervention are very important. This article summarizes the recent advance in EHS in recent years from the aspects of etiology, pathogenesis, epidemiology, clinical manifestations, diagnosis, treatment and prognosis as follows, in order to deepen the understanding of clinical colleagues.

Exploding head syndrome (EHS) is a sleep disorder that is easily missed diagnosed and misdiagnosed in Neurology. Its long-term existence can seriously affect the quality of life of patients; therefore, early and accurate identification of EHS and early intervention are very important. This article summarizes the recent advance in EHS in recent years from the aspects of etiology, pathogenesis, epidemiology, clinical manifestations, diagnosis, treatment and prognosis as follows, in order to deepen the understanding of clinical colleagues.

Objective:To observe the expression levels of small ubiquitinated protein specific protease (SENP) 1 and small ubiquitin-related modifier protein (SUMO) 1 in patients with diffuse large B-cell lymphoma (DLBCL), and analyze the clinical value of evaluating prognosis.Methods:The clinical data of 66 patients with DLBCL (DLBCL group) in Inner Mongolia People′s Hospital from February 2017 to October 2020 were retrospectively analyzed, and 60 cases of healthy people in the same period were selected as the healthy control group. The expression levels of SENP1 and SUMO1 were detected by enzyme linked immunosorbent assay (ELISA). The correlation between the expression levels of SENP1, SUMO1 and clinical characteristics was analyzed. The independent risk factors affecting the prognosis were analyzed by Cox multivariate analysis.Results:The SENP1 in DLBCL group was significantly higher than that in healthy control group (50.39 ± 6.86 vs. 7.47 ± 1.32), the SUMO1 in DLBCL group was significantly lower than that in healthy control group (8.84 ± 2.13 vs. 31.49 ± 5.89), and there were statistical differences ( t = 47.640 and 29.210, P<0.01). There were statistical differences in SENP1 and SUMO1 among patients with different clinical stages ( P<0.01). The expression levels of SENP1 and SUMO1 were correlated with clinical stage and international prognostic index (IPI) ( P<0.05), and were not correlated with age, gender, disease site and clinical symptoms ( P>0.05). The 3-year survival rate in patients with high SENP1 expression (30 cases) was significantly lower than that in patients with low SENP1 expression (36 cases), the 3-year survival rate in patients with high SUMO1 expression (38 cases) was significantly higher than that in patients with low SUMO1 expression (28 cases), and there were statistical differences (26.67% vs. 75.00% and 73.68% vs. 39.29%, P<0.05). Cox multivariate regression analysis result showed that clinical stage, IPI, SENP1 and SUMO1 were independent risk factors affecting the prognosis in patients with DLBCL ( HR = 1.352, 1.487, 2.048 and 3.295; 95% CI 1.180 to 1.691, 1.187 to 1.602, 2.536 to 4.023 and 2.752 to 5.325; P<0.05 or <0.01). Conclusions:In patients with DLBCL, SENP1 is highly expressed and SUMO1 is lowly expressed. The expression levels of SENP1 and SUMO1 are closely related to clinical stage and IPI in patients with DLBCL, and they are independent risk factors of the prognosis.

Objective:To evaluate the intrauterine transmission of syphilis in Nantong City, Jiangsu Province from 2012 to 2019, after the introduction of a nationwide policy for preventing intrauterine transmission of syphilis in China in 2011.Methods:This study enrolled all live birth deliveries ( n=455 561) in Nantong from January 2012 to December 2019. The screening, infection rates, anti-syphilis treatment, intrauterine transmission of syphilis, and outcomes of infants with congenital syphilis were retrospectively analyzed using χ 2 test for trend, adjusted χ 2 test, or Fisher's exact test. Results:Except for three women, the remaining 455 558 subjects were all screened for syphilis antibody with a total screening rate of nearly 100%, among which prenatal screening accounted for 96.4% (439 125/455 561) and intrapartum screening for 3.6% (16 433/455 561). In total, 796 (0.17%) women were diagnosed with syphilis during pregnancy, and the prevalence increased from 0.13% (85/64 229) in 2012 to 0.24% (110/45 517) in 2019 (χ 2trend=48.985, P<0.001). The prevalence among women underwent intrapartum screening was significantly higher than those underwent prenatal screening [0.50% (82/16 433) vs 0.16% (714/439 125), χ 2=102.769, P<0.001]. Out of the women with syphilis, 716 (89.9%) received anti-syphilis therapy with 695 cases using penicillin, 16 cases using ceftriaxone and five using erythromycin/azithromycin, while the remaining 80 (10.1%) did not. Intrauterine transmission of syphilis occurred in 14 infants with a transmission rate of 1.8% (14/796). The reported rate of congenital syphilis in all live infants was 0.03‰ (14/460 552). The intrauterine transmission rate in women receiving treatment during pregnancy was significantly lower than that in the untreated women [0.4% (3/716) vs 13.8% (11/80), χ2=66.499, P<0.001]. For the untreated women, the intrauterine transmission rate increased with the rising titers of non-specific syphilis antibody ( χ2trend=5.338, P=0.021). Among infants with congenital syphilis, no obvious adverse outcomes occurred in three infants born to treated mothers, whereas the rates of preterm birth and neonatal death were 7/11 and 2/11 in those born to untreated mothers. Conclusions:Since the implementation of the policy against intrauterine transmission of syphilis, the reported rate of congenital syphilis is 3/100 000 live-birth in Nantong City, reaching the national target of below 15/100 000. Screening and treatment in the first trimester are critical for preventing intrauterine transmission of syphilis. Increased prenatal syphilis screening rate can help further reduction of the intrauterine transmission of syphilis.

Objective:To explore the effect on cardiopulmonary function of early rehabilitation after lung transplantation.Methods:Forty patients undergoing lung transplantation were randomly divided into an observation group and a control group, each of 20. Both groups received routine rehabilitation treatment, psychological counseling and health education about rehabilitation, medications and nutrition. The observation group was additionally given systematic early lung rehabilitation treatment as soon as their vital signs were stable after the operation. It included body position transfers, aerobic training, resistance training and breathing training 3 to 5 times a week for 4 weeks supervised by physical therapists. The control group were informed about methods of aerobic training, respiratory training and airway clearance but carried them out by themselves. The percentage of forced expiratory volume (FVC%), FVC in the first second (FEV1%, ) and FEV1%/ FVC% of the two groups were evaluated using a bedside lung function instrument before the lung transplantation and after 4 weeks of treatment. The six-minute walking distances (6MWDs) of the two groups were compared and their facility in the activities of daily living was evaluated using the modified Barthel index (MBI).Results:Before treatment, there was no significant difference in the average FEV1%, FVC%, FEV1%/FVC%, 6MWD or MBI ratings between the two groups. After the 4 weeks of treatment, both groups showed significant improvement in all of those measurements, on average. The observation group′s averages were, however, significantly better than those of the control group.Conclusion:Early rehabilitation after lung transplantation helps to improve cardiopulmonary function and promote a better quality of life.

Objective:To evaluate the results of butterfly cartilage myringoplasty for anterior quadrant tympanic perforation under endoscope.Methods:Thirty-eight patients with anterior quadrant tympanic perforations who were subjected to endoscopic butterfly cartilage myringoplasty from April 2016 to October 2018 were included in this study, including 16 males and 22 females, with an average age of (34.5±14.2) years. The patients were reviewed retrospectively, and the pre-and post-operative pure tone audiometry (PTA) thresholds, pre-and post-operative air-bone gaps (ABG), post-operative graft success rates and complications were evaluated. SPSS 23.0 was used to analyze data.Results:Mean post-operative follow-up duration was (9.4±3.1) months (range 6-18 months). The graft survival rate was 94.7% (36/38) . The preoperative and postoperative mean PTA was (30.9±8.9) dB HL and (21.4±7.7) dB HL respectively. Preoperative and postoperative mean ABG was (18.4±6.3) dB and (10.8±6.0) dB respectively. There was significant difference between pre-and postoperative PTA and ABG ( t=5.353 and 4.162, P<0.05 for both). A postoperative ABG reduction of (8.3±1.5) dB was reached. Two (4.7%) patients had postoperative myringitis, two (4.7%) had recurrent perforation, and one (2.4%) had lateral healing of transplanted tympanic membrane in the postoperative follow-ups. No intratympanic cholesteatoma was observed. Conclusions:Endoscopic butterfly inlay myringoplasty is a reliable, minimally invasive alternative method to repair anterior tympanic membrane perforations, with high closure rate and low risk of complications.