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Objective:To investigate long-term auditory changes and characteristics of Alport syndrome(AS) patients with different degrees of renal injury. Methods:Retrospectively analyzing clinical data of patients diagnosed AS from January 2007 to September 2022, including renal pathology, genetic detection and hearing examination. A long-term follow-up focusing on hearing and renal function was conducted. Results:This study included 70 AS patients, of which 33(25 males, 8 females, aged 3.4-27.8 years) were followed up, resulting in a loss rate of 52.9%.The follow-up period ranged from 1.1to 15.8 years, with 16 patients followed-up for over 10 years. During the follow-up, 10 patients presenting with hearing abnormalities at the time of diagnosis of AS had progressive hearing loss, and 3 patients with new hearing abnormalities were followed up, which appeared at 5-6 years of disease course. All of which were sensorineural deafness. While only 3 patients with hearing abnormalities among 13 patients received hearing aid intervention. Of these patients,7 developed end-stage renal disease(ESRD), predominantly males (6/7). The rate of long-term hearing loss was significantly different between ESRD group and non-ESRD group(P=0.013). There was no correlation between the progression of renal disease and long-term hearing level(P>0.05). kidney biopsies from 28 patients revealed varying degrees of podocyte lesion and uneven thickness of basement membrane. The severity of podocyte lesion was correlated with the rate of long-term hearing loss(P=0.048), and there was no correlation with the severity of hearing loss(P>0.05). Among 11 cases, theCOL4A5mutationwas most common (8 out of 11), but there was no significant correlation between the mutation type and hearing phenotype(P>0.05). Conclusion:AS patients exhibit progressive hearing loss with significant heterogeneity over the long-term.. THearing loss is more likely to occur 5-6 years into the disease course. Hearing abnormalities are closely related to renal disease status, kidney tissue pathology, and gene mutations, emphasizing the need for vigilant long-term hearing follow-up and early intervention.
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Masculino , Niño , Femenino , Humanos , Nefritis Hereditaria/patología , Estudios Retrospectivos , Riñón , Sordera , Pérdida Auditiva/genética , Fallo Renal Crónico/patología , MutaciónRESUMEN
Accurate and applicable reference intervals can provide important information for disease diagnosis, efficacy evaluation, and health monitoring. Age-dependent trends exist for many clinical laboratory indicators, and the interpretation of such indicators should consider the effect of age carefully. However, age-specific reference intervals have certain limitations in clinical application. Continuous reference intervals can not only help accurate interpretation of laboratory test results, but also provide a baseline value for dynamic monitoring of their changing trends. Based on the researches on pediatric reference intervals from our team, this paper introduces different algorithms for establishing continuous reference intervals, and their applicable conditions and implementation steps. The aim of this paper is to provide methodological guidance for the establishment of continuous reference intervals, so as to improve the quality of laboratory reports and the accuracy of clinical diagnosis in China.
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The cure rate of pediatric malignant tumor is increasing year by year.In the long-term follow-up of childhood cancer survivors, some patients have subsequent malignant neoplasms, and the risk of subsequent malignant neoplasms is significantly higher than that of normal population, resulting in poor prognosis.Treatment methods such as radiotherapy, chemotherapy of the primary tumor, and patient-specific genetic variants are risk factors for subsequent malignant neoplasms.Long-term follow-up and essential examinations for childhood cancer survivors will be beneficial to early detection of patients with subsequent malignant neoplasms.This article will summarize the research progress on the occurrence of subsequent malignant neoplasms after childhood cancer, analyze its clinical characteristics, and increase the awareness of clinicians about early detection and treatment for the improved prognosis of patients.
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Hepatotoxicity induced by bioactive constituents in traditional Chinese medicines or herbs,such as bavachin(BV)in Fructus Psoraleae,has a prolonged latency to overt drug-induced liver injury in the clinic.Several studies have described BV-induced liver damage and underlying toxicity mechanisms,but little attention has been paid to the deciphering of organisms or cellular responses to BV at no-observed-adverse-effect level,and the underlying molecular mechanisms and specific indicators are also lacking during the asymptomatic phase,making it much harder for early recognition of hepatotoxicity.Here,we treated mice with BV for 7 days and did not detect any abnormalities in biochemical tests,but found subtle steatosis in BV-treated hepatocytes.We then profiled the gene expression of hepatocytes and non-parenchymal cells at single-cell resolution and discovered three types of hepatocyte subsets in the BV-treated liver.Among these,the hepa3 subtype suffered from a vast alteration in lipid metabolism,which was characterized by enhanced expression of apolipoproteins,carboxylesterases,and stearoyl-CoA desaturase 1(Scd1).In particular,increased Scd1 promoted monounsaturated fatty acids(MUFAs)syn-thesis and was considered to be related to BV-induced steatosis and polyunsaturated fatty acids(PUFAs)generation,which participates in the initiation of ferroptosis.Additionally,we demonstrated that mul-tiple intrinsic transcription factors,including Srebf1 and Hnf4a,and extrinsic signals from niche cells may regulate the above-mentioned molecular events in BV-treated hepatocytes.Collectively,our study deciphered the features of hepatocytes in response to BV insult,decoded the underlying molecular mechanisms,and suggested that Scd1 could be a hub molecule for the prediction of hepatotoxicity at an early stage.
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Under the leadership and high-level promotion of the central and local governments, the construction of national regional medical centers(NRMCs) in China has achieved initial results, and has received recognition and high attention from all sectors of society. The current focus of NRMCs construction has progressed from the project selection to the evaluation of construction effectiveness and the establishment of corresponding operating mechanisms. On the basis of analyzing the characteristics of NRMCs construction and reviewing the evaluation of NRMCs construction at the national level, this paper systematically introduced the monitoring index system and its application of NRMCs construction in Beijing Children′s Hospital, and put forward corresponding policy suggestions. The monitoring of the construction indexes of NRMCs could provide a basis and support for hospitals to identify problems in time, seek government support, and carry out target management, and has reference for promoting the effective construction of NRMCs.
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Objective:To analyze the role of psychological detachment(PD) and career calling(CC) in the relationship between hospital workplace violence(HV) and turnover intention(TI), so as to provide references for developing effective intervention measures for medical personnel who have suffered from HV.Methods:From October and November 2022, convenient sampling was used to select medical staff from public hospitals in 16 provinces of China, and a questionnaire survey was conducted on HV, TI, PD, and CC. Pearson′s test was used for correlation analysis, and mediation effect analysis and moderated mediation effect analysis were used to explore the role of PD and CC in the relationship between HV and TI.Results:A total of 1 090 medical personnel were included in this survey, of whom 600(55.0%) had been subjected to HV. The findings showed that HV was positively correlated with TI( r = 0.27, P<0.05). From the analysis of mediation effect, HV had a negative predictive effect on PD( β =-0.82, P<0.05). PD had a negative predictive effect on TI( β =-0.31, P<0.05). PD partially mediated the association between HV and TI, with a mediation effect value of 0.25(17.39%). From the analysis of moderated mediation effect, interaction between HV and CC( β =-0.41, P<0.05) and the interaction between PD and TI( β = 0.17, P<0.05) had a moderating effect on the level of TI of medical personnel. Conclusions:HV was an important factor in predicting the TI of medical personnel, with PD partially mediating between HV and TI. The sense of CC played a moderating role between HV and TI, as well as between PD and TI.
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Scientific research is an important driving force for the development of medicine. Good cooperation between hospital clinical medical staff and basic researchers is conducive to complementary advantages, promoting the development of hospital research and the improvement of diagnosis and treatment level, and helping hospitals to achieve high-quality development as well. Since March 2017, a tertiary children′s hospital carried out a practice of collaboration between clinical medical staff and basic researchers. The measures taken refer to setting up clinical and scientific research integration teams, implementing a co-PI system, establishing the joint Party branches, strengthening the cooperation with universities and research institutes, promoting the cooperative research and transformation of the achievements, and improving the performance appraisal management system of scientific research. From 2017 to 2022, five clinical and scientific research joint laboratories were built, and two major projects of National Natural Science Foundation were approved. The clinical and scientific research departments jointly published 122 SCI papers and jointly carried out 71 research projects. This practice had achieved good results, which could provide references for the hospitals of the same scale to carry out cooperation between clinical staff and basic scientific researchers.
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Objective:To explore the construction of a quantifiable comprehensive evaluation index system for the core professional capabilities of clinical engineers, a system matching the routine work of tertiary public hospital′s department of biomedical engineering, and supporting the future development of the discipline.Methods:Based on analysis of such factors as hospital development planning, clinical diagnosis and treatment characteristics, and routine work description of the clinical engineering department, as well as literature review and expert consultation, a preliminary evaluation index system was developed for the core professional capabilities of such engineers. Then the Delphi method was applied for two rounds of expert consultation, with experts invited to evaluate the importance of core indexes, while the analytic hierarchy process was used to calculate the weight values of these indexes. Based on the evaluation index system for core professional capabilities of clinical engineers, a survey questionnaire was developed and the score criterion was defined independently, and then a questionnaire survey was conducted from February to April 2023 on clinical engineers of the tertiary public hospitals′ department of biomedical engineering to evaluate their core professional capabilities.Results:The comprehensive evaluation index system for the core professional capabilities of clinical engineers was composed of 4 first-level indexes and 14 second-level indexes. The weights for the 4 first-level indexes, namely job responsibilities, service abilities, extension abilities, and communication abilities were 0.200, 0.350, 0.250, and 0.200, respectively. Among the 14 second-level indexes, the weights of equipment management ability, engineering technology transformation ability, scientific research ability, personnel quality, and medical communication ability ranked top five, weighting 0.097, 0.091, 0.089, 0.088, and 0.087, respectively. A total of 106 clinical engineers were selected for a questionnaire survey, and the self-scoring found 6 of them as " excellent", 36 as " good", 38 as " moderate", and 26 as " poor" in terms of core professional capabilities.Conclusions:The evaluation index system for the core professional capabilities of clinical engineers in this study proves rational and practical, and can provide reference for the core professional competence evaluation, talent cultivation, and clinical engineering discipline of these professionals.
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5α-reductase 2 deficiency prevents testosterone from being converted to dihydrotestosterone, which causes abnormal urogenital sinus development. The aim of this study was to analyze the relationship between genotype-phenotype, surgical selections, and postoperative complications of 5α-reductase 2-deficient patients with hypospadias. We retrospectively evaluated the medical records of patients who were diagnosed with 5α-reductase 2 deficiency after genetic testing in the Department of Endocrinology and underwent initial hypospadias surgery in the Department of Urology in Beijing Children's Hospital, Capital Medical University (Beijing, China), from April 2007 to December 2021. A total of 69 patients were included in this study; the mean age at surgery was 34.1 months, and the average follow-up time was 54.1 months. Sixty children were treated with preoperative hormone stimulation (PHS) to promote penile growth. The average penis length and glans width were increased by 1.46 cm and 0.62 cm, respectively. The most frequent mutations were p.R227Q (39.1%, 54/138), p.Q6* (15.2%, 21/138), p.G203S (12.3%, 17/138), and p.R246Q (11.6%, 16/138). In 64 patients who were followed up, 43 had a one-stage operation and 21 had a staged operation, and there were significant differences in external masculinization score (EMS) ( P = 0.008) and the average number of operation required to cure ( P < 0.001) between one-stage and staged operations. PHS had a positive effect ( P < 0.001) on penile development. The p.R227Q mutation was associated with higher EMS and less severe hypospadias. One-stage surgery can be selected if conditions permit. The growth and development of children are acceptable in the long term, but penis growth remains unsatisfactory. Long-term complications of hypospadias should be considered during puberty.
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Masculino , Humanos , Niño , Lactante , Hipospadias/cirugía , Estudios Retrospectivos , Oxidorreductasas , Complicaciones Posoperatorias , Estudios de Asociación GenéticaRESUMEN
Objective:To evaluate the effectiveness and safety of ultrasound-guided percutaneous polidocanol sclerotherapy of the thyroglossal duct cysts in children.Methods:A retrospective analysis of 26 children who were treated with ultrasound-guided percutaneous puncture sclerosis for thyroglossal duct cysts in Beijing Children′s Hospital, Capital Medical University from October 2019 to April 2022, the size of the cyst before treatment was recorded, and the cyst volume in accordance with V(ml) =1/6 πabc cyst volume was calculated. The follow-up time was the 1st, 3rd, 6th, and 12th months after sclerotherapy. And the cyst volume and volume reduction ratio at different time points was calculated. According to changes in the cystic volume, the treatment was considered effective if the cyst volume reduction rate was≥50%. Cosmetic grading scores (CGS) were performed pre-treatment and at the last follow-up after sclerotherapy using the WHO grading system. Complications were recorded during the follow-up period.Results:The cyst volume before treatment was 2.67 (3.78)ml, and the cyst volume at the 1st, 3rd, 6th and 12th month after treatment were 0.66(1.83), 0.45(0.87), 0.40(0.70), 0.38 (0.63)ml, respectively, there were significant differences between pre-treatment and each time point after-treatment (all P<0.001); the volume reduction rate at the last follow-up was (81.48±14.57)%. The reduction rate of cyst volume was more than 50% at the last follow-up in 22 children, the treatment efficiency was 84.62% (22/26). The cosmetic grading scores at the last follow-up after sclerotherapy was 1.74(1.50), and it decreased significantly compared with the pre-treatment score 3.85(0)( P<0.001). There was no skin pigmentation, pain in the injection area, local urticaria and blistering after sclerotherapy, no adverse reactions such as cyst bleeding and drunkenness-like reaction, and no serious complications occurred. There were 2 cases of cysts that presented infection with fever, and no serious complications occurred. Conclusions:Ultrasound-guided percutaneous sclerotherapy is a safe and effective minimally invasive treatment for thyroglossal duct cysts in children.
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Objective: To analyze the clinical characteristics and complications of esophageal foreign bodies of button battery ingestion in children. Methods: A retrospective descriptive study included 83 children who were hospitalized in our hospital on account of button battery ingestion from January 2011 to December 2021. There were 50 males (60.2%) and 33 females (39.8%). The age ranged from 7.6 months to one month off 10 years, with a median age of 18 months. The data of patient demographics and time from ingestion to admission, location, symptoms, management, complications, and follow-up outcome were recorded. SPSS17.0 software was used for statistical analysis. Results: Seventy-two children (86.7%) were younger than 3 years old. The time from ingestion to admission ranged from 1 h to 2 months, with a median time of 8 h. Among the 63 children who were first diagnosed in our hospital, the most common clinical symptoms were nausea and vomiting (32 cases, 50.8%), dysphagia (31 cases, 49.2%), salivation (11 cases, 17.5%) and fever (10 cases, 15.9%). Seventy-three of 83 cases had complete preoperative diagnostic tests, and 55 cases (75.3%) were diagnosed by X-ray. In 56 cases (76.7%), the foreign badies were impacted in the upper third of esophagus. In 72 cases (86.7%), the foreign badies were removed by rigid esophagoscopy. 23 (27.7%) had serious complications, including tracheoesophageal fistula in 15 cases(TEF;65.2%), vocal cord paralysis (VCP;34.8%) in 8 cases, esophageal perforation in 3 cases (EP;13.0%), hemorrhage in 3 cases(13.0%), mediastinitis in 3 cases (13%), and periesophageal abscess in 1 case (4.3%). There were significant differences in the exposure time of foreign bodies and unwitnessed ingestion by guardians in the complications group (P<0.05). 2 cases died (2.4%)respectively due to arterial esophageal fistula bleeding and respiratory failure caused by stent displacement during the treatment of tracheoesophageal fistula. Conclusion: Accidental button battery ingestion can be life-threatening. and it mostly happens in children under 3 years old. Serious complications may happen cause of non-specific clinical manifestations and unwitnessed ingestions. Anterior and lateral chest X-ray is the first examination choice. Tracheoesophageal fistula is the most common serious complication.
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Masculino , Femenino , Niño , Humanos , Lactante , Preescolar , Fístula Traqueoesofágica/etiología , Estudios Retrospectivos , Cuerpos Extraños/diagnóstico , Ingestión de AlimentosRESUMEN
Objective:To analyze the impact of COVID-19 on the number of hospitalization and the disease spectrum of children′s hospitals in China, so as to provide scientific basis for improving the epidemic response policy of children′s hospitals and restoring hospital operations.Methods:Discharged patients from 27 children′s hospitals from January 1, 2019, to December 31, 2020, were selected from the FUTang Updating medical Records(FUTURE) Database. The ratio of discharge number in 2020 to that in 2019 was calculated. Age groups, disease types, and discharge months were further divided to calculate the ratio of discharge numbers under different conditions.Results:The total number of discharged patients in 2020 was 76.76% of the total number in 2019. In terms of discharge time, the ratio rose slowly from the lowest values in February and March, and reached about 90% of the same period of 2019 at the end of 2020. In terms of age, the biggest change in the discharge number was among children aged 1-3 years, which was 71.87% in 2019. In terms of disease classifications, respiratory diseases changed the most in the number of discharged patients in 2020, accounting for 56.03% of that in 2019. The top five hospitalized diseases of children did not change, while the other ranks changed slightly.Conclusions:COVID-19 has a huge and lasting impact on the number of hospitalizations in children′s hospitals, and the hospitals should develop multiple approaches such as online medical care to cope with the long-term negative impact of the pandemic.
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Rare diseases refer to a group of diseases having very low incident rates in the population without unified definition up till now. Approximately 50% to 75% of rare diseases occur at birth or in childhood, incurring huge psychological and economic burden to families and society. With the rapid development of diagnostic technology and the continuous progress in treatment and the introduction of relevant policies, China has made great progress in the prevention and treatment of rare diseases. This article summarizes the latest progress in the diagnosis, clinical management, and research of pediatric rare diseases; and explores the prospects in the future.
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Objective To discuss the significance of genetic diagnosis of children with syndromic hearing loss by using whole-exome sequencing. Methods The clinical data of 34 children with sensorineural hearing loss were collected and the whole exons of genome of the children and their parents were sequenced and analyzed. Results Genetic causative gene and mutations have been identified in 19 children, including 4 genes (HARS2, USH2A, GATA3, MITF) related to rare syndromic hearing loss. Fifteen children were diagnosed with non-syndromic hearing loss related gene, including 8 cases with GJB2 mutation, 5 cases with SLC26A4 mutation and 2 cases with MYO15A mutation. Mutations of c.435_437del(p.K147del) and c.1403G > C (p.G468A) in gene HARS2, c.11389+1del in gene USH2A, c.1327delA(p.M443Wfs*33) in gene GATA3, c.627C > A(p.C209X) in gene MITF and c.8033_8057delinsG(p.N2678_D2686delinsS) in gene MYO15A were first reported. Conclusions Whole-exome sequencing helps the accurate diagnosis of causes of hearing loss, especially for the rare syndromic hearing loss with atypical clinical manifestations. Information from genetic testing may highlight further recommended exams of structure and functions of related organs.
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Natural killer (NK) cells are the main immune cells at the maternal-fetal interface and accumulate in the uterine decidua in early pregnancy. Many studies have shown that NK cells at the maternal-fetal interface have unique phenotypes and play critical roles in various processes, including immune tolerance during pregnancy, decidualization, invasion of trophoblasts, remodeling of the uterine spiral artery, formation of the placenta and growth of embryo. However, specific functions of NK cells and their mechanism remain to be fully elucidated. This review summarizes the research progress of NK cells at the maternal-fetal interface and their roles in the pregnancy-related disorders in recent years. The aims of this review are to gain deep insight of the function of NK cells at the maternal-fetal interface and provide new ideas for intervention of pregnancy-related diseases.
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Femenino , Humanos , Embarazo , Decidua , Células Asesinas Naturales , Intercambio Materno-Fetal , Placenta , Trofoblastos , ÚteroRESUMEN
Objective:To explore the hospital-institute integration mode based on project cooperation.Methods:Focusing on the management innovation of clinical and basic scientific research cooperation mode, the method of hospital-institute integration mode based on project cooperation and the key points in practice were discussed, to develop better understandings of the construction and development such mode.Results:Several key points of developing hospital-institute integration mode based on project cooperation were proposed. Main measurements adopted including the integration of scientific research and clinic service, comprehensive construction of management concept, scientific research capacity, teaching organization and service concept, cultivation of high-level research talents, construction of research departments, according to which formed the main structure of the hospital. Furthermore, it is important to change the development mode in time to promote the healthy development of the hospital.Conclusions:It is a new direction of the clinical and basic research cooperation innovation to encourage the hospital-institute integration mode based on project cooperation. It is also an effective strategy to promote the improvement of diagnosis and treatment level under the new medical reform situation.
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Objective:Explore the " project-talent-base" combining international science and technology cooperation management model and mechanism through summarizing the practical experience of a tertiary pediatric hospital in Beijing in recent years, to provide reference for strengthening the hospital′s international science and technology cooperation.Methods:Main problems existing in the management of international science and technology cooperation in domestic medical institutions are analyzed, and management methods of international science and technology cooperation adopted by the hospital are classified through policy sorting, literature research, summarization and classification.Results:The hospital has established an efficient and high-quality international science and technology cooperation management model mainly through four aspects: improving the international cooperation management system, enriching international cooperation and exchange projects, building different types of international science and technology cooperation platforms, and strengthening personnel training.Conclusions:Under the background of the globalization of science and technology and the accelerating pace of scientific research in China, improving the hospital′s international science and technology cooperation management model will effectively promote the introduction of international advanced technologies and concepts, and enhance the overall science and technology innovation capabilities and discipline construction.
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Collaborative development among medical practice, education and research is a strategic decision of the country in disciplinary development guided by the innovation-driven strategy. In October 2017, Beijing Hospitals Authority organized 18 tertiary hospitals with pediatrics discipline and founded a collaborative development center for pediatrics. This center operated in a model featuring both leadership of due authorities and autonomous administration. Two of the specialized pediatrics hospitals work as leading units, and existing high quality pediatrics resources of the member hospitals were pooled to establish an academics committee and an executive committee. A development system was established with disciplinary construction as the focus, collaborative development as the goal and horizontal collaboration as the means. It was designed to explore a new model featuring overall planning and standardized management of the discipline, building of a shared platform for clinical capacity development, joint development of continued medical education and talent cultivation, as well as diversified and multi-centered research and platform resources sharing. This model can effectively promote the overall development level of pediatrics in Beijing municipal hospitals.
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Objective:To analyze the gastroscopy treatment technology in a Children′s Medical Center based on the diagnosis-related groups(DRG) and put forward suggestions for resource optimization.Methods:The data of the front pages of medical records of 22 medical institutions in a Children′s Medical Center in 2018 were divided into DRG groups. The patients in gastroscope treatment operation group(GK3)were selected, and the disease diagnosis, operation and payment methods of the patients in this group were analyzed.Results:Of the 22 medical institutions, 16 had GK3 group cases, and the number of cases was significantly different, ranging from 2 to 917. Among them, the institution with code M was characterized by multiple endoscopic treatment of esophageal stricture, but most other institutions rarely carried out the treatment of esophageal stricture. In GK3 group, the main payment method of children in Institution M with the highest constituent ratio was at one′s own expense, followed by non-local medical insurance. The main payment type of O and P institutions with the second and third constituent ratio was local medical insurance.Conclusions:The gap of the technology of gastroscopy in the treatment of esophageal stricture is large in all institutions. The high-quality medical resources can be sunk through the construction of pediatric medical alliance, and the gap between the regional medical technology can be continuously leveled.
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Objective:To construct a multi-stage dynamic prevention and control model, establish a system of intervention points and prevention and control measures for the prevention and control of workplace violence in hospitals, so as to provide guidance for hospitals and medical staffs to effectively prevent and respond to such incidents.Methods:Based on the crisis management theory, a model for the prevention and control of workplace violence in hospitals was constructed, the intervention points and prevention and control measures were screened by the Delphi method.Results:A multi-stage dynamic prevention and control model of workplace violence in hospitals was constructed, and a system of intervention points and prevention and control measures for workplace violence in hospitals were established according to the model. The system was divided into three stages: the pre-event stage contained 10 intervention points and 48 countermeasures, the in-event stage contained 6 intervention points and 17 countermeasures, and the post-event stage contained 3 intervention points and 12 countermeasures.Conclusions:It is an effective way to avoid violence and reduce the damage degree of violent incidents by selecting different countermeasures for different intervention points and carrying out multi-stage dynamic prevention and control of workplace violence in hospitals.