Objective:To analyze the clinical and genetic characteristics of children diagnosed with Noonan-syndrome associated with loose anagen hair (NS-LAH).Methods:A retrospective analysis was conducted on the clinical data of 5 children diagnosed with NS-LAH by the Endocrinology Department of the Capital Institute of Pediatrics from January 2018 to June 2024. This analysis encompassed the patients′ demographic information, clinical manifestations, distinguishing features, treatment regimens, and prognostic outcomes to elucidate their clinical characteristics. Additionally, whole-exome sequencing and Sanger sequencing were utilized to investigate the genetic etiology within the families, and the identified variations were interpreted according to the guidelines of the American College of Medical Genetics and Genomics.Results:Among the 5 NS-LAH patients, there were 3 boys and 2 girls, with ages at diagnosis ranging from 2.3 to 7.7 years old. All patients presented with short stature as a primary complaint. Birth histories were generally unremarkable, though case 2 and 5 of macrosomia were noted. In addition to the characteristic facial features of Noonan syndrome, short stature, and varying degrees of intellectual and motor developmental delay, all 5 patients exhibited sparse hair that was easily shed, as well as enlarged head circumferences. Four patients showed structural cardiac abnormalities, which included a case of hypertrophic cardiomyopathy, 2 cases of atrial septal defect, and 1 case of patent foramen ovale. Genetic analysis revealed heterozygous missense variantion in SHOC2 gene in 4 patients, comprising 3 cases with c.4A>G (p.S2G) and one case with c.519G>C (p.M173I). Additionally, one patient was found to have a heterozygous missense variantion c.146C>G (p.P49R) in PPP1CB gene. Three children were diagnosed with growth hormone deficiency and treated with growth hormone for 1.7, 2.7 and 0.5 years. This resulted in significant improvements in height, with annual increases of 11.8, 8.4 and 13.0 cm, respectively. Among the 4 patients with SHOC2 variantions, 2 developed systemic lupus erythematosus and 1 exhibited symptoms of arthritis.Conclusions:Growth failure is the primary complaint in patients with NS-LAH. Key characteristic findings include enlarged head circumference and sparse, loose hair. Growth hormone deficiency is commonly associated with NS-LAH, and growth hormone therapy is generally effective. Furthermore, patients carrying the classic variantion in SHOC2 (c.4A>G) may have an increased risk of developing autoimmune diseases.

Objective:To analyze the clinical and genetic characteristics of children diagnosed with Noonan-syndrome associated with loose anagen hair (NS-LAH).Methods:A retrospective analysis was conducted on the clinical data of 5 children diagnosed with NS-LAH by the Endocrinology Department of the Capital Institute of Pediatrics from January 2018 to June 2024. This analysis encompassed the patients′ demographic information, clinical manifestations, distinguishing features, treatment regimens, and prognostic outcomes to elucidate their clinical characteristics. Additionally, whole-exome sequencing and Sanger sequencing were utilized to investigate the genetic etiology within the families, and the identified variations were interpreted according to the guidelines of the American College of Medical Genetics and Genomics.Results:Among the 5 NS-LAH patients, there were 3 boys and 2 girls, with ages at diagnosis ranging from 2.3 to 7.7 years old. All patients presented with short stature as a primary complaint. Birth histories were generally unremarkable, though case 2 and 5 of macrosomia were noted. In addition to the characteristic facial features of Noonan syndrome, short stature, and varying degrees of intellectual and motor developmental delay, all 5 patients exhibited sparse hair that was easily shed, as well as enlarged head circumferences. Four patients showed structural cardiac abnormalities, which included a case of hypertrophic cardiomyopathy, 2 cases of atrial septal defect, and 1 case of patent foramen ovale. Genetic analysis revealed heterozygous missense variantion in SHOC2 gene in 4 patients, comprising 3 cases with c.4A>G (p.S2G) and one case with c.519G>C (p.M173I). Additionally, one patient was found to have a heterozygous missense variantion c.146C>G (p.P49R) in PPP1CB gene. Three children were diagnosed with growth hormone deficiency and treated with growth hormone for 1.7, 2.7 and 0.5 years. This resulted in significant improvements in height, with annual increases of 11.8, 8.4 and 13.0 cm, respectively. Among the 4 patients with SHOC2 variantions, 2 developed systemic lupus erythematosus and 1 exhibited symptoms of arthritis.Conclusions:Growth failure is the primary complaint in patients with NS-LAH. Key characteristic findings include enlarged head circumference and sparse, loose hair. Growth hormone deficiency is commonly associated with NS-LAH, and growth hormone therapy is generally effective. Furthermore, patients carrying the classic variantion in SHOC2 (c.4A>G) may have an increased risk of developing autoimmune diseases.

Clinical decision support system is a system that utilizes models or knowledge bases to assist clinical decision-making through human-computer interaction for semi-structured or unstructured clinical problems, with the aim of reducing decision-making errors among medical staff and improving the quality of medical and nursing services. In recent years, clinical decision support system has attracted wide attention in the field of clinical nursing of Traditional Chinese Medicine. This paper will review the development status, application advantages and existing problems of clinical decision support system in the field of clinical nursing of Traditional Chinese Medicine, aiming to provide reference for the development of a more specialized and systematic clinical decision support system for clinical nursing of Traditional Chinese Medicine.

Objective To construct an"Internet+TCM nursing service"talent cultivation model in Zhejiang Province and to evaluate its application effect.Methods Based on the literature review and expert panels,the"Internet+TCM nursing service"talent cultivation model was constructed in Zhejiang Province.A total of 63 trainees from 63 TCM and integrated traditional Chinese and Western medicine hospitals in the province were selected to carry out for 45 days of theoretical training and 9 days of clinical skills training.After the training,the training effect was evaluated by theoretical knowledge,TCM nursing skills,scenario simulation case assessment,trainees'satisfaction,as well as a survey on the results of practice.Results The constructed talent cultivation model contains course contents including theoretical learning,skill training and emergency home treatment management and corresponding assessment programs.Sixty-three trainees successfully completed the course with the theoretical score of(92.24±3.64),the skill score of(97.13±2.53),and the situational case score of(95.78±3.02).Fifty-five trainees(87.30％)were assessed as"excellent"and 8(12.70％)as"good".The trainees'satisfaction about the overall module design of the project was(4.93±0.23)and 415 cases of"Internet+TCM nursing service"were carried out.Conclusion The"Internet+TCM nursing service"talent cultivation model in Zhejiang Province has strong applicability and remarkable training effect,which can provide references for the implementation of"Internet+TCM nursing service"in other regions.

Objective To establish a scientific and systematic quality evaluation system for the implementation of TCM nursing programs,and to provide references for promoting the standardized implementation and quality improvement of TCM nursing programs.Methods From October 2023 to December 2023,a research team was set up to form the first draft of the quality evaluation system for the implementation of TCM nursing programs based on the"structure-process-results"three-dimensional quality model,by combining literature research and focus group interviews,and the quality evaluation system for the implementation of TCM nursing programs was formulated by means of Delphi expert letter consultation and analytic hierarchy process.Results 2 rounds of professional consultations resulted in an excellent recovery rate of 100％;the expert authority coefficients were 0.853 and 0.958;the Kendall harmony coefficients of expert opinions were 0.151 and 0.152,respectively.Finally,the quality evaluation system of TCM nursing program implementation was determined,including 3 first-level indicators,including structure,process and result.There are 6 secondary indicators,including system management,implementation management,quality management,effect evaluation,safety evaluation,and satisfaction evaluation.There are 18 three-level indicators,including the implementation management system of TCM nursing program and regular optimization of TCM nursing program.Conclusion The quality evaluation system for the implementation of TCM nursing programs is scientific and reliable,but its practicability needs to be tested in clinical practice.

OBJECTIVE: To explore the clinical characteristics and genetic basis for three children with Congenital chlorine diarrhea (CCD). METHODS: Three children with CCD who attended the Affiliated Children's Hospital of Capital Pediatric Institute from June 2014 to August 2020 were selected as the research subjects. Peripheral blood samples of the three children and their parents were collected for genetic testing. And the results were verified by Sanger sequencing. RESULTS: The clinical manifestations of the three children have included recurrent diarrhea, with various degrees of hypochloremia, hypokalemia and refractory metabolic alkalosis. Genetic testing revealed that the three children have all carried variants of the SLC26A3 gene, including homozygous c.1631T>A (p.I544N) variants, c.2063_1G>T and c.1039G>A (p.A347T) compound heterozygous variants, and c.270_271insAA(p.G91kfs*3) and c.2063_1G>T compound heterozygous variants. Sanger sequencing confirmed that all of the variants were inherited from their parents. CONCLUSION The variants of the SLC26A3 gene probably underlay the CCD in these children. Above finding has enriched the spectrum of SLC26A3 gene variants.
Humans ; Child ; Chlorine ; Genetic Testing ; Hypokalemia/genetics* ; Homozygote ; Diarrhea/genetics* ; Mutation

Objective:To systematically evaluate the effect of virtual reality technology in postoperative rehabilitation of patients with total knee and hip arthroplasty replacement.Methods:Randomized controlled trials of the effect of virtual reality technology in postoperative rehabilitation of patients with total knee and hip arthroplasty replacement were searched through PubMed, Embase, Web of Science, Cochrane Library, China National Knowledge Infrastructure, CBM, VIP and Wanfang data.The retrieval period was from the establishment of database to November 25, 2021. Literature screening, information extraction and quality evaluation were conducted by 2 researchers. RevMan 5.4 software was used for Meta-analysis.Results:A total of 9 literatures and 668 patients were included. The Meta-analysisresults showed that virtual reality technology compared with traditional rehabilitation methods could reduce pain score ( MD=-0.64, 95% CI: -0.86--0.42, P<0.001), improve joint function ( MD=-4.46, 95% CI: -5.85--3.07, P<0.001; MD=9.78, 95% CI: 6.61-12.95, P<0.001; SMD=1.84, 95% CI: 0.85-2.83, P<0.001), increase joint range of motion ( MD=7.25, 95% CI: 6.48-8.02, P<0.001), improve patient's balance function ( MD=6.20, 95% CI: 5.01-7.38, P<0.001) and quality of life ( SMD=1.30, 95% CI: 0.90-1.71, P<0.001) . Conclusions:Virtual reality technology can improve joint function, range of motion, balance function and quality of life of patients with total knee and hip arthroplastyreplacement, reduce pain scores. However, the existing evidence cannot prove the effect of virtual reality technology on psychological function, enthusiasm and interest of patients, and further discussion is needed in the future.

Infection prevention and control(hereinafter referred to as " infection control" )practitioners are the backbone of infection control teams of individual departments. Their capacity-building is key to improving the management efficiency at both hospital and department levels, which can effectively ensure medical safety. Since 2017, a tertiary traditional Chinese medicine hospital had scored desirable results based on the analysis of the problems existing in their capacity-building. In its explorations, the hospital attempted to improve the professional competency and management ability by the following measures. These measures included improving and standardizing the organization and management, establishing an on-the-job training system, formulating an annual management manual of department′s infection control teams, implementing a cross inspection system and patrol system of the practitioners during an epidemic, establishing an assessment and evaluation system and incentive mechanism, establishing infection control elite teams, and building a mode dominated by infection control doctors. These experiences can provide reference for optimizing the capacity building of the infection control practitioners.

Objective:To explore methods and effects of training and rotation of newly recruited nurses in ClassⅢ hospitals of traditional Chinese medicine (TCM) so as to provide references for improving the clinical nursing service ability of newly recruited nurses in hospitals of traditional Chinese medicine and providing practical TCM nursing talents for clinical practice.Methods:According to the requirements of the"Standardized Training Outline for Newly Recruited Nurses (Trial)""Systematic and Standardized Training Program for Newly Recruited Nurses in ClassⅢ Hospitals of Traditional Chinese Medicine"was formulated. Using the convenience sampling method, 95 nurses from the First Affiliated Hospital of Zhejiang University of Chinese Medicine were selected as the research objects. A total of 95 newly recruited undergraduate nurses who graduated in 2016 were given pre-job training for 3 weeks and specialist rotation training for 24 months. After 3 weeks of training, theoretical test and nursing skills assessment of traditional Chinese medicine and western medicine were conducted to evaluate the comprehensive ability of clinical practice after 1 year and 2 years of rotation.Results:After 3 weeks of training, the average scores of theoretical test, western medicine nursing operation and TCM nursing operation of 95 newly recruited nurses were respectively (88.63±4.74) , (95.57±0.75) and (93.18±1.63) . The score of comprehensive ability of clinical practice after 1 year of rotation was (84.05±4.96) , and that after 2 years of rotation was (90.62±2.38) . The differences in scores were statistically significant ( P<0.05) . During the rotation phase, none of 95 newly recruited nurses had patient complaints or serious errors. Conclusions:Through training and rotation, newly recruited nurses can quickly complete the role transformation of nurses, consolidate the basic theoretical knowledge and skills related to TCM nursing and improve the comprehensive ability of clinical nursing practice to ensure the quality of nursing.

Objective A 10-years-old girl with Schimke immuno-osseous dysplasia ( SIOD ) was reported and a literature review presented to provide clinical and genetic information of this rare disease. Methods Retrospective analysis of a case of SIOD in Capital Institute of Pediatrics was reported. The patient and her parents' DNA were extracted from blood for detecting SMARCALl gene mutation. Literatures of the disease were reviewed. Results The patient was a ten-years-old girl who admitted because of slow growth in height for 3 years. Herstaturewas123cm(T(p.Q149X)andc.1933C>T(p.R645C)compound heterozygous mutation. A novel nonsense c.445C>T(p. Q149X)was found. One reported missense mutations c. 1933C>T(p. R645C) was detected. We reviewed literatures and found that there were 4 confirmed cases in China including this one. All the 4 cases had the characteristic of short stature, special facial features, osseous dysplasia, pigmentations in body, and proteinuria. However the severity of the disease and genetic changes are not the same. Conclusion When a patient was admitted because of short stature, diagnosis of SIOD should be suspected if he or she also had special facial feature, osseous dysplasia, café-au-lait spots, and proteinuria. Gene test is a tool to help us to make a definite diagnosis of SIOD.