Objective:To investigate the clinical features and prognosis of male with anti-melanoma differentiation-associated gene 5 (MDA5) autoantibody.Methods:The clinical data of 246 patients with DM and anti-MDA5 autoantibodies hospitalized by Jiangsu Myositis Cooperation Group from 2017 to 2020 were collected and retrospectively analyzed. Chi-square test was performed to compared between counting data groups; Quantitative data were expressed by M ( Q1, Q3), and rank sum test was used for comparison between groups; Single factor survival analysis was performed by Kaplan-Meier method and Log rank test; Cox regression analysis were used for multivariate survival analysis. Results:①The male group had a higher proportion of rash at the sun exposure area [67.1%(47/70) vs 52.8%(93/176), χ2=4.18, P=0.041] and V-sign [50.0%(35/70) vs 30.7%(54/176), χ2=8.09, P=0.004] than the female group. The male group had higher levels of creatine kinase [112(18, 981)U/L vs 57 (13.6, 1 433)U/L, Z=-3.50, P<0.001] and ferritin [1 500 (166, 32 716)ng/ml vs 569 (18, 14 839)ng/ml, Z=-5.85, P<0.001] than the female group. The proportion of ILD [40.0%(28/70) vs 59.7%(105/176), χ2=7.82, P=0.020] patients and the red blood cell sedimentation rate[31.0(4.0, 101.5)mm/1 h vs 43.4(5.0, 126.5)mm/1 h, Z=-2.22, P=0.026] in the male group was lower than that of the female group, but the proportion of rapidly progressive interstitial lung disease (PR-ILD) [47.1%(33/70) vs 31.3%(55/176), χ2=5.51, P=0.019] was higher than that of the female group. ②In male patients with positive anti-MDA5 antibodies,the death group had a shorter course of disease[1.0(1.0, 3.0) month vs 2.5(0.5,84) month, Z=-3.07, P=0.002], the incidence of arthritis [16.7%(4/24) vs 42.2%(19/45), χ2=4.60, P=0.032] were low than those in survival group,while aspartate aminotransferase (AST)[64(22.1, 565)U/L vs 51(14,601)U/L, Z=-2.42, P=0.016], lactate dehydrogenase (LDH) [485(24,1 464)U/L vs 352(170, 1 213)U/L, Z=-3.38, P=0.001], C-reactive protein (CRP) [11.6(2.9, 61.7) mg/L vs 4.95(0.6, 86.4) mg/L, Z=-1.96, P=0.050], and ferritin levels [2 000(681, 7 676) vs 1 125 (166, 32 716)ng/ml, Z=-3.18, P=0.001] were higher than those in the survival group, and RP-ILD [95.8%(23/24) vs 22.2%(10/45), χ2=33.99, P<0.001] occurred at a significantly higher rate. ③Cox regression analysis indicated that the course of disease LDH level, and RP-ILD were related factors for the prognosis of male anti-MDA5 antibodies [ HR (95% CI)=0.203(0.077, 0.534), P=0.001; HR (95% CI)=1.002(1.001, 1.004), P=0.003; HR (95% CI)=95.674 (10.872, 841.904), P<0.001]. Conclusion:The clinical manifestations of male anti-MDA5 antibody-positive patients are different from those of female. The incidence of ILD is low, but the proportion of PR-ILD is high. The course of disease, serum LDH level, and RP-ILD are prognostic factors of male anti-MDA5 antibody-positive patients.

Renal replacement therapy and perioperative management have difficulties in hemophilia patients with end-stage renal disease. The paper summarized the diagnosis and treatment experience of six hemophilia patients complicated with end-stage renal disease from January 1, 2000 to March 31, 2023 in Peking Union Medical College Hospital. Among 6 patients treated with peritoneal dialysis, 3 were treated with hemodialysis or continuous venous-venous hemodialysis. Altogether 11 dialysis access procedures were conducted successfully, and no serious bleeding or thrombotic events. In further conjunction with literature review, the paper summarized the key points of dialysis access appliance relevant to such patients, to provide reference for renal replacement treatment paths.

Objective:To summarize the experience of transthoracic epicardial insertion pacemaker for isolated congenital third-degree atrioventricular block (CAVB), and explore the necessity and feasibility of permanent pacemaker in the treatment of CAVB in neonates and infants.Methods:The clinical data and follow-up of four children with CAVB admitted to the Senior Department of Pediatrics, the Seventh Medical Center of PLA General Hospital from September 2010 to February 2022 were analyzed retrospectively.Two patients were implanted with permanent cardiac pacemakers during an early stage (less than one year old), and two patients were implanted during the non-early stage (one year old and above). All patients were diagnosed based on clinical symptoms, electrocardiogram and echocardiographic examination.After treatment, the pacing threshold, atrial sensing function, clinical symptoms, electrocardiogram and echocardiography examination of four patients were followed up.Results:All patients were successfully implanted with permanent cardiac pacemakers.One patient of non-early implantation was died of severe pneumonia and sepsis.During the follow-up period, pacing threshold, amplitude, impedance, minute ventilation and sensor function indicated pacemakers worked well in other three patients.Heart rates in these patients were significantly recovered, and showed growth trends in line with percentile curves for Chinese children and good movement skills.Conclusion:A pacemaker implantation performed by an experienced operator is a safe and feasible treatment for children with CAVB diagnosed in neonates and infants period with good prognosis.

In order to provide efficient medical care to atrial fibrillation patients in the community, the Huamu Community Health Service Center in association with its medical consortium, Renji Hospital have developed a novel atrial fibrillation management system. With the collaboration of general practitioners and specialist team from the tertiary hospital, a special clinic for atrial fibrillation has been set up in the community health service center, which is based on the internet technology and the medical consortium platform. This article introduces the development of this novel system and the initial outcome of the measures, to provide a reference for the management of atrial fibrillation patients in the community.

Objective:To investigate the clinical effect of platelet rich plasma combined with autologous fat free grafting in penile enlargement.Methods:From February 2015 to April 2016, In our department, 18 patients (aged 21-42 years, average 30.5 years) underwent penile thickening. Platelet rich plasma was prepared from peripheral venous blood, Then liposuction in the thigh root to obtain autologous fat and purification, Platelet rich plasma combined with autologous fat mixture with 1∶3 ratio, then injected between the superficial fascia and deep fascia of penile.Results:18 patients Were followed up for 6 to 12 months postoperatively, The penile circumference increased by 2.80 cm average, patients were satisfied with the appearance of the penis, No complications occured such as infection and fat liquefaction, less fat absorption, of which 10 cases were married sex life satisfactory.Conclusions:Platelet rich plasma combined with autologous fat free grafting penile enlargement contributes to the survival of grafting fat and reduces fat absorption. The penis appearance is fine with satisfactory effect.

Objective:To detect the genes of common genetic diseases in newborns with the high-throughput sequencing technology based on target gene capture, to study the incidence rate of such diseases, the carrying rate and variant types of pathogenic mutations related to such diseases, and to explore the application value of the high-throughput sequencing technology in screening genetic diseases of newborns.Methods:The heel blood of 1 793 newborns born in Guangdong province from June 2019 to April 2020 were collected, and the exon regions of 138 common genetic disease-related genes in neonates were detected using the high-throughput sequencing technology based on target gene capture.The pathogenicity of the mutations was interpreted according to the " Classification Criteria and Guidelines for Genetic Variation(2017)" , in which known disease and probable disease were considered as positive mutations.The positive mutations were verified by Sanger sequencing technology, and the test results were analyzed with statistical methods.Results:Among the 1 793 newborns, 978 were male and 815 were female.A total of 158 positive cases were screened(8.81%), and 11 positive diseases were detected.Among the positive diseases, there were 41 cases(2.29%)of autosomal recessive deafness type 1A, 40 cases(2.23%)of Gilbert syndrome or Crigler-Najjar syndrome, and 33 cases(1.84%)of glucose-6-phosphate dehydrogenase deficiency(1.84%), 19 cases(1.06%)of familial hypercho-lesterolemia, 18 cases(1.00%) of sodium taurocholate cotransporter peptide deficiency disease, 2 cases(0.11%)of mitochondrial non-syndromic deafness, 2 cases(0.11%)of Citrin deficiency, 1 case(0.06%)of holocarboxylase synthase deficiency, 1 case(0.06%)of β-thalassemia and 1 case(0.06%)of metachromatic leukodystrophies.Of all studied cases, 972 carried one or more positive mutations, involving 85 kinds of diseases in total.The diseases with a high carrying rate were Gilbert syndrome or Crigler-Najjar syndrome(359 cases, 20.02%), autosomal recessive deafness type 1A(302 cases, 16.84%), and sodium taurocholate cotransport peptide deficiency disease(291 cases, 16.22%). The high-frequency mutation sites were UGT1A1 gene c. 211G> A, GJB2 gene c .109G> A and SLC10A1 gene c. 800C> T. Conclusions:The common genetic diseases detected in neonates from Guangdong province are autosomal recessive deafness type 1A, Gilbert syndrome or Crigler-Najjar syndrome, glucose-6-phosphate dehydrogenase deficiency, familial hypercholesterolemia, and sodium taurocholate cotransport peptide deficiency.There are high-frequency carrying mutation sites in the population.Preliminary genetic screening of common neonatal genetic diseases can accumulate data and experience for the development of newborn genetic screening.

Novel Coronavirus Pneumonia (NCP) is a class B infectious disease, which is prevented and controlled according to class A infectious diseases. Recently, children′s NCP cases have gradually increased, and children′s fever outpatient department has become the first strategic pass to stop the epidemic. Strengthening the management of the fever diagnosis process is very important for early detection of suspected children, early isolation, early treatment and prevention of cross-infection. This article proposes prevention and control strategies for fever diagnosis, optimizes processes, prevents cross-infection, health protection and disinfection of medical staff, based on the relevant diagnosis, treatment, prevention and control programs of the National Health and Health Commission and on the diagnosis and treatment experience of experts in various provinces and cities. The present guidance summarizes current strategies on pre-diagnosis; triage, diagnosis, treatment, and prevention of 2019-nCoV infection in common fever, suspected and confirmed children, which provide practical suggestions on strengthening the management processes of children′s fever in outpatient department during the novel coronavirus pneumonia epidemic period.

Objective: To study the threshold values of lactic acid (Lac)and buffuer excess (BE) when neonatal umbilical arterial blood gas is at pH <7.20. Methods: A total of 2 518 pregnant women admitted in Beijing New Century Women and Children′s Hospital from January 2017 to February 2019 were enrolled.The general conditions in perinatal period and labor methods were counted.Umbilical cord arterial blood was immediately collected before the first cry of newborn and was detected on the Abbott I-STAT automatic blood gas analyzer from the United States, and then the umbilical arterial blood gas was measured.We analyzed the perinatal factors affecting umbilical arterial blood gas.We studied the threshold values of Lac and BE for neonal asphyxia by receiver operating characteristic curve. Results: (1)Maternal anemia, Streptococcus agalactiae infection, precipitate labour, placenta abnormalities had no significant impact on neonatal umbilical artery blood gas.The Lac value in blood gas was higher in the group of premature rupture of fetal membranes and fetal intrauterine distress.The value of BE was lower in the group with premature rupture of fetal membranes and fetal distress (P<0.05). The Lac value in cesarean section group was the lowest[(1.79±1.25) mmol/L], while that in midwifery group was the highest[(4.45±1.58) mmol/L]. pH value was the lowest (7.25±0.07) in the midwifery group and the highest (7.31±0.06) in the cesarean section group.The value of BE was the lowest in the midwifery group[-(5.66±2.52) mmol/L], and the highest in the cesarean section group[-(2.99±2.28) mmol/L], with statistically significant differences among the three groups (P<0.05). (2) Multiple linear regression analysis showed that fetal delivery mode, fetal intrauterine distress, premature rupture of membranes, and gestational diabetes were the factors affecting Lac level in umbilical artery blood gas of newborns.Methods of delivery, intrauterine distress, premature rupture of membranes and placental abnormalities were the factors that affected the BE value of umbilical artery blood gas in newborns.(3) A total of 199 cases with pH value <7.2 were diagnosed as asphyxia, and the receiver operating characteristic curve of Lac and BE values of neonatal umbilical artery blood gas for the diagnosis of asphyxia was drawn.When Lac was >3.97 mmol/L, the sensitivity and specificity of the diagnosis of asphyxia were 0.864 and 0.791, respectively.When BE was ≤-6 mmol/L, the diagnostic sensitivity and specificity of asphyxia were 0.613 and 0.756, respectively. Conclusion Neonatal umbilical arterial blood gas is affected by many factors.The effect of accouche on umbilical arterial blood gas is large.When there is asphyxia with pH <7.2, the cut points of Lac and BE are >3.97 mmol/L and ≤-6 mmol/L, respectively.

Extracorporeal membrane oxygenation(ECMO) is a type of technique which can be used to replace patients' pulmonary function and cardiac function effectively. Since 2000s,the technique began to apply in pediatric patients but still developed very slowly. As well,patients transport with ECMO is another problem for the pediatricians. So,it is necessary to raise the conception of pediatric ECMO transport network and construction of the network. In this paper,the concept of pediatric ECMO transport network,current status of transport,the characteristics and constitution of pediatric ECMO transport network,indication for transport of pediatric ECMO,the problems in the construction of network were introduced to promote the construction of the network.

Objective To investigate the effect of superomedial pedicle reduction mammaplasty in the treatment of severe gynecomastia.Methods 24 males with severe gynecomastia were involved in this study,who underwent superomedial pedicle reduction mammaplasty.Results All the patients were followed up for one to two years,and there were no complications such as skin necrosis,nippleareolar complex (N A C) hypaesthesia,hematoma or infection occurred.Minimal wound dehiscence occurred in two cases,and the rest cases were healed well.Conclusions Superomedial pedicle reduction mammaplasty in the treatment of severe gynecomastia could achieve satisfactory results,and good breast shapes are produced.