1.Structure, content and data standardization of rehabilitation medical records
Yaru YANG ; Zhuoying QIU ; Di CHEN ; Zhongyan WANG ; Meng ZHANG ; Shiyong WU ; Yaoguang ZHANG ; Xiaoxie LIU ; Yanyan YANG ; Bin ZENG ; Mouwang ZHOU ; Yuxiao XIE ; Guangxu XU ; Jiejiao ZHENG ; Mingsheng ZHANG ; Xiangming YE ; Jian YANG ; Na AN ; Yuanjun DONG ; Xiaojia XIN ; Xiangxia REN ; Ye LIU ; Yifan TIAN
Chinese Journal of Rehabilitation Theory and Practice 2025;31(1):21-32
ObjectiveTo elucidate the critical role of rehabilitation medical records (including electronic records) in rehabilitation medicine's clinical practice and management, comprehensively analyzed the structure, core content and data standards of rehabilitation medical records, to develop a standardized medical record data architecture and core dataset suitable for rehabilitation medicine and to explore the application of rehabilitation data in performance evaluation and payment. MethodsBased on the regulatory documents Basic Specifications for Medical Record Writing and Basic Specifications for Electronic Medical Records (Trial) issued by National Health Commission of China, and referencing the World Health Organization (WHO) Family of International Classifications (WHO-FICs) classifications, International Classification of Diseases (ICD-10/ICD-11), International Classification of Functioning, Disability and Health (ICF), and International Classification of Health Interventions (ICHI Beta-3), this study constructed the data architecture, core content and data standards for rehabilitation medical records. Furthermore, it explored the application of rehabilitation record summary sheets (home page) data in rehabilitation medical statistics and payment methods, including Diagnosis-related Groups (DRG), Diagnosis-Intervention Packet (DIP) and Case Mix Index. ResultsThis study proposed a systematic standard framework for rehabilitation medical records, covering key components such as patient demographics, rehabilitation diagnosis, functional assessment, rehabilitation treatment prescriptions, progress evaluations and discharge summaries. The research analyzed the systematic application methods and data standards of ICD-10/ICD-11, ICF and ICHI Beta-3 in the fields of medical record terminology, coding and assessment. Constructing a standardized data structure and data standards for rehabilitation medical records can significantly improve the quality of data reporting based on the medical record summary sheet, thereby enhancing the quality control of rehabilitation services, effectively supporting the optimization of rehabilitation medical insurance payment mechanisms, and contributing to the establishment of rehabilitation medical performance evaluation and payment based on DRG and DIP. ConclusionStructured rehabilitation records and data standardization are crucial tools for quality control in rehabilitation. Systematically applying the three reference classifications of the WHO-FICs, and aligning with national medical record and electronic health record specifications, facilitate the development of a standardized rehabilitation record architecture and core dataset. Standardizing rehabilitation care pathways based on the ICF methodology, and developing ICF- and ICD-11-based rehabilitation assessment tools, auxiliary diagnostic and therapeutic systems, and supporting terminology and coding systems, can effectively enhance the quality of rehabilitation records and enable interoperability and sharing of rehabilitation data with other medical data, ultimately improving the quality and safety of rehabilitation services.
2.Standardization of electronic medical records data in rehabilitation
Yifan TIAN ; Fang XUN ; Haiyan YE ; Ye LIU ; Yingxin ZHANG ; Yaru YANG ; Zhongyan WANG ; Meng ZHANG ; Xiaoxie LIU ; Yanyan YANG ; Bin ZENG ; Mouwang ZHOU ; Yuxiao XIE ; Guangxu XU ; Jiejiao ZHENG ; Mingsheng ZHANG ; Xiangming YE ; Fubiao HUANG ; Qiuchen HUANG ; Yiji WANG ; Di CHEN ; Zhuoying QIU
Chinese Journal of Rehabilitation Theory and Practice 2025;31(1):33-44
ObjectiveTo explore the data standard system of electronic medical records in the field of rehabilitation, focusing on the terminology and coding standards, data structure, and key content categories of rehabilitation electronic medical records. MethodsBased on the Administrative Norms for the Application of Electronic Medical Records issued by the National Health Commission of China, the electronic medical record standard architecture issued by the International Organization for Standardization and Health Level Seven (HL7), the framework of the World Health Organization Family of International Classifications (WHO-FICs), Basic Architecture and Data Standards of Electronic Medical Records, Basic Data Set of Electronic Medical Records, and Specifications for Sharing Documents of Electronic Medical Records, the study constructed and organized the data structure, content, and data standards of rehabilitation electronic medical records. ResultsThe data structure of rehabilitation electronic medical records should strictly follow the structure of electronic medical records, including four levels (clinical document, document section, data set and data element) and four major content areas (basic information, diagnostic information, intervention information and cost information). Rehabilitation electronic medical records further integrated information related to rehabilitation needs and characteristics, emphasizing rehabilitation treatment, into clinical information. By fully applying the WHO-FICs reference classifications, rehabilitation electronic medical records could establish a standardized framework, diagnostic criteria, functional description tools, coding tools and terminology index tools for the coding, indexing, functional description, and analysis and interpretation of diseases and health problems. The study elaborated on the data structure and content categories of rehabilitation electronic medical records in four major categories, refined the granularity of reporting rehabilitation content in electronic medical records, and provided detailed data reporting guidance for rehabilitation electronic medical records. ConclusionThe standardization of rehabilitation electronic medical records is significant for improving the quality of rehabilitation medical services and promoting the rehabilitation process of patients. The development of rehabilitation electronic medical records must be based on the national and international standards. Under the general electronic medical records data structure and standards, a rehabilitation electronic medical records data system should be constructed which incorporates core data such as disease diagnosis, functional description and assessment, and rehabilitation interventions. The standardized rehabilitation electronic medical records scheme constructed in this study can support the improvement of standardization of rehabilitation electronic medical records data information.
3.Standardization of outpatient medical record in rehabilitation setting
Ye LIU ; Qing QIN ; Haiyan YE ; Yifan TIAN ; Yingxin ZHANG ; Yaru YANG ; Zhongyan WANG ; Meng ZHANG ; Xiaoxie LIU ; Yanyan YANG ; Bin ZENG ; Mouwang ZHOU ; Yuxiao XIE ; Guangxu XU ; Jiejiao ZHENG ; Mingsheng ZHANG ; Xiangming YE ; Fubiao HUANG ; Qiuchen HUANG ; Yiji WANG ; Di CHEN ; Zhuoying QIU
Chinese Journal of Rehabilitation Theory and Practice 2025;31(1):45-54
ObjectiveTo analyze the data structure and standards of rehabilitation outpatient medical records, to provide data support for improving the quality of rehabilitation outpatient care and developing medical insurance payment policies. MethodsBased on the normative documents issued by the National Health Commission, Basic Standards for Medical Record Writing and Standards for Electronic Medical Record Sharing Documents, in accordance with the Quality Management Regulations for Outpatient (Emergency) Diagnosis and Treatment Information Pages (Trial), reference to the framework of the World Health Organization Family of International Classifications (WHO-FICs), the data framework and content of rehabilitation outpatient medical records were determined, and the data standards were discussed. ResultsThis study constructed a data framework for rehabilitation outpatient medical records, including four main components: patient basic information, visit process information, diagnosis and treatment information, and cost information. Three major reference classifications of WHO-FICs, International Classification of Diseases, International Classification of Functioning, Disability and Health, and International Classification of Health Interventions,were used to establish diagnostic standards and standardized terminology, as well as coding disease diagnosis, functional description, functional assessment, and rehabilitation interventions, to improve the quality of data reporting, and level of quality control in rehabilitation. ConclusionThe structuring and standardization of rehabilitation outpatient medical records are the foundation for sharing of rehabilitation data. The using of the three major classifications of WHO-FICs is valuable for the terminology and coding of disease diagnosis, functional description and assessment, and intervention in rehabilitation outpatient medical records, which is significant for sharing and interconnectivity of rehabilitation outpatient data, as well as for optimizing the quality and safety of rehabilitation medical services.
4.Structure, content and data standardization of inpatient rehabilitation medical record summary sheet
Haiyan YE ; Qing QIN ; Ye LIU ; Yifan TIAN ; Yingxin ZHANG ; Yaru YANG ; Zhongyan WANG ; Meng ZHANG ; Xiaoxie LIU ; Yanyan YANG ; Bin ZENG ; Mouwang ZHOU ; Yuxiao XIE ; Guangxu XU ; Jiejiao ZHENG ; Mingsheng ZHANG ; Xiangming YE ; Fubiao HUANG ; Qiuchen HUANG ; Yiji WANG ; Di CHEN ; Zhuoying QIU
Chinese Journal of Rehabilitation Theory and Practice 2025;31(1):55-66
ObjectiveTo explore the standardization of inpatient rehabilitation medical record summary sheet, encompassing its structure, content and data standards, to enhance the standardization level of inpatient rehabilitation medical record summary sheet, improve data reporting quality, and provide accurate data support for medical insurance payment, hospital performance evaluation, and rehabilitation discipline evaluation. MethodsBased on the relevant specifications of the National Health Commission's Basic Norms for Medical Record Writing, Specifications for Sharing Documents of Electronic Medical Records, and Quality Management and Control Indicators for Inpatient Medical Record Summary Sheet (2016 Edition), this study analyzed the structure and content of the inpatient rehabilitation medical record summary sheet. The study systematically applied the three major reference classifications of the World Health Organization Family of International Classifications, International Classification of Diseases (ICD-10/ICD-11, ICD-9-CM-3), International Classification of Functioning, Disability and Health (ICF), and International Classification of Health Interventions (ICHI Beta-3), for disease diagnosis, functional description and assessment, and rehabilitation intervention, forming a standardized terminology system and coding methods. ResultsThe inpatient rehabilitation medical record summary sheet covered four major sections: inpatient information, hospitalization information, diagnosis and treatment information, and cost information. ICD-10/ICD-11 were the standards and coding tools for admission and discharge diagnoses in the inpatient rehabilitation medical record summary sheet. The three functional assessment tools recommended by ICD-11, the 36-item version of World Health Organization Disability Assessment Schedule 2.0, Brief Model Disability Survey and Generic Functioning domains, as well as ICF, were used for rehabilitation functioning assessment and the coding of outcomes. ICHI Beta-3 and ICD-9-CM-3 were used for coding surgical procedures and operations in the medical record summary sheet, and also for coding rehabilitation intervention items. ConclusionThe inpatient rehabilitation medical record summary sheet is a summary of the relevant content of the rehabilitation medical record and a tool for reporting inpatient rehabilitation data. It needs to be refined and optimized according to the characteristics of rehabilitation, with necessary data supplemented. The application of ICD-11/ICD-10, ICF and ICHI Beta-3/ICD-9-CM-3 classification standards would comprehensively promote the accuracy of inpatient diagnosis of diseases and functions. Based on ICD-11 and ICF, relevant functional assessment result data would be added, and ICHI Beta-3/ICD-9-CM-3 should be used to code rehabilitation interventions. Improving the quality of rehabilitation medical records and inpatient rehabilitation medical record summary sheet is an important part of rehabilitation quality control, and also lays an evidence-based data foundation for the analysis and application of inpatient rehabilitation medical record summary sheet.
5.Assessment of the implementation of Radiation shielding requirements for radiotherapy room—Part 4: Radiotherapy room of 252Cf neutron afterloading (GBZ/T 201.4-2015)
Yuze YANG ; Hongfang WANG ; Haoxian YANG ; Quan WU ; Mingsheng LI ; Bala HARI ; Yongzhong MA ; Zechen FENG ; Bin BAI ; Jie GAO ; Wei ZHOU ; Weixu HUANG ; Zhengjie SHI ; Hezheng ZHAI
Chinese Journal of Radiological Health 2025;34(5):660-665
Objective To track and evaluate the implementation and application of the occupational health standard Radiation shielding requirements for radiotherapy room—Part 4: Radiotherapy room of 252Cf neutron afterloading (GBZ/T 201.4-2015) by radiation health technical service agencies, medical institutions, health supervision agencies, and radiotherapy facility design units, and to provide a scientific basis for the further revision and implementation of this standard. Methods Following the Guideline for health standards tracking evaluation (WS/T 536-2017) and the project implementation plan, relevant practitioners were randomly selected for a questionnaire survey. The survey primarily focused on their awareness, standard training, application, and revision suggestions of GBZ/T 201.4-2015. The results were summarized and analyzed. Results A total of 168 evaluation questionnaires were collected from relevant practitioners in 28 provinces. Only 31.6% of the respondents reported being “well familiar” or “ familiar” with the standard, 27.4% of the respondents believed that the standard was widely used, and 45.2% of the respondents believed that the standard could meet the needs of their work. Only 14.9% of the respondents had received relevant training on the standard, more than half of the respondents had not applied the standard within the past 10 years, and 45.2% of the respondents believed that the standard "needs to be revised". Conclusion Due to the small number of californium-252 neutron afterloading radiotherapy devices in operation on the market, the overall awareness of the standard is low, suggesting that relevant authorities need to strengthen training and publicity of the standard, and that certain sections of the standard need to be revised or merged.
6.Clinical Efficacy of Immediate Radical Surgery for Locally Advanced Prostate Cancer
Wei WANG ; Sheng LIU ; Hongqing ZHOU ; Mingsheng LIU ; Pingbo XIE ; Feng GUO ; Guanyu CHEN
Journal of Kunming Medical University 2025;46(1):43-50
Objective To explore the clinical efficacy and safety of immediate laparoscopic radical prostatectomy immediately following the diagnosis of locally advanced prostate cancer.Methods A retrospective analysis was performed for 63 patients with locally advanced prostate cancer who met the inclusion criteria diagnosed in The 1st People's Hospital of Qujing City,Yunnan Province from January 2018 to January 2023.All patients were diagnosed via ultrasound-guided transperineal prostate biopsy.The experimental group consisted of 37 patients who underwent immediate laparoscopic radical prostatectomy after pathological diagnosis,followed by postoperative adjuvant hormone therapy.The control group included 26 patients who first received 3 months of neoadjuvant hormone therapy before undergoing radical surgery,followed by adjuvant hormone therapy postoperatively.The two groups were compared in terms of surgical duration,intraoperative blood loss,length of hospital stay,duration of catheterization,positive surgical margin rate,rectal injury,positive lymph node rate,incidence of urinary fistula and lymphatic leakage,changes in PSA level,postoperative urinary control,biochemical recurrence and distant metastasis.Results In the control group,serum PSA levels,prostate volume,and clinical staging significantly decreased after neoadjuvant hormon therapy.The positive surgical margin rate in the experimental group was significantly higher than that in the control group,with a statistically significant difference(P<0.05).There were no statistically significant differences between the two groups in terms of surgical duration,intraoperative blood loss,length of hospital stay,duration of catheterization,rectal injury,positive lymph node rate,incidence of urinary fistula and lymphatic leakage(P>0.05).Follow-up at 18 to 36 months revealed no statistically significant differences between the two groups in terms of serum PSA levels at one month post-surgery,complete urinary control rate at six months post-surgery,and biochemical recurrence and distant metastasis at one and two years post-surgery(P>0.05).Conclusion Immediate laparoscopic radical prostatectomy following the diagnosis of locally advanced prostate cancer is a clinically safe and feasible treatment option.Noadjuvant hormone therapy reduces tumor staging,lowers the positive surgical margin rate,significantly decreases prostate volume,and provides greater operational space without increasing surgical risks.
7.Efficacy Analysis of Complete Pelvic Floor Peritoneal Reconstruction Technique in Orthotopic Neobladder Surgery after Total Cystectomy
Sheng LIU ; Fei YUAN ; Hongqing ZHOU ; Mingsheng LIU ; Donghuan ZOU ; Yu LI ; Guanyu CHEN ; Feng GUO
Journal of Kunming Medical University 2025;46(6):71-78
Objective To evaluate the efficacy of complete pelvic floor peritoneal reconstruction in reducing postoperative ileus incidence and accelerating recovery following laparoscopic radical cystectomy with orthotopic neobladder construction.Methods A retrospective study was conducted to select 62 patients who underwent the operation in Qujing Hospital Affiliated to Kunming Medical University from January 2017 to September 2024.According to whether complete pelvic floor peritoneal reconstruction was performed during the operation,they were divided into the conventional group(n=25)and the reconstruction group(n=37).Postoperative ileus rates and recovery parameters were compared to assess the clinical value of complete pelvic floor peritoneal reconstruction.Results The reconstruction group showed better postoperative recovery compared to the routine group:gastrointestinal function recovery time[3(2,4)d vs 4(3,5)d,P=0.032],abdominal drainage time[12(10,13.5)d vs 14(12,15)d,P=0.006],pelvic drainage time[12(9,13.5)d vs 14(11,16)d,P=0.015],postoperative hospital stay[18(15.5,26)d vs 25(17,30.5)d,P=0.016],and hospital expenses[(53,695.67±10,182.43)yuan vs(60,803.73±14,449.24)yuan,P=0.027].Postoperative nutritional markers,including total protein[(64.49±6.82)g/L vs.(61.56±4.03)g/L,P=0.038]and albumin[(36.08±5.29)g/L vs.(33.40±3.57)g/L,P=0.020],were higher in the reconstruction group.No significant difference was found in ileus incidence(44.00%vs.32.43%,P=0.355).Other parameters—baseline characteristics,postoperative globulin and prealbumin levels,gastric tube retention,stent/catheter removal time,and complications(anastomotic leakage,urinary fistula,wound infection)—showed no intergroup differences(P>0.05).Conclusion The application of complete pelvic floor peritoneal reconstruction technique in laparoscopic radical cystectomy with orthotonic neobladder provides better protection for the intestine,reduces surgical area adhesions,promotes gastrointestinal function recovery,shortens abdominal and pelvic drainage times,accelerates patient rehabilitation,reduces hospital stay and expenses.However,whether it can effectively reduce postoperative intestinal obstruction rates still requires more data and experimental verification.
8.Effects of sevoflurane or propofol anesthesia maintenance on renal function and postoperative cognition in patients undergoing liver transplantation
Jinhui XU ; Mailong YUAN ; Tao ZHOU ; Mingsheng ZHANG ; Yaqi LI
The Journal of Practical Medicine 2024;40(24):3509-3514
Objective To compare the application of sevoflurane or propofol anesthesia maintenance in liver transplantation patients and explore its effects on renal function and postoperative cognition and possible mechanisms.Methods A total of 60 patients aged 18~60 years old and ASA grade Ⅱ-Ⅲ who were scheduled to undergo orthotopic liver transplantation in our hospital were selected.They were randomly divided into two groups(n=30)according to the different maintenance schemes:group P(propofol group)and group S(sevoflurane group).Anesthesia maintenance:group P received continuous target-controlled infusion of propofol combined with remifentanil hydrochloride injection during surgery;group S received sevoflurane inhalation combined with infusion of remifentanil hydrochloride injection during surgery.The mean arterial pressure(MAP),heart rate(HR)and central venous pressure(CVP)of the two groups of patients were recorded at seven time points,including before anesthesia induction(T0),immediately after skin incision(T1),30 minutes in the anhepatic phase(T2),3 hours in the neohepatic phase(T3),12 hours after surgery(T4),24 hours after surgery(T5)and 72 hours after surgery(T6).3 mL of central venous blood was drawn from each group.The serum neutrophil gelatinase-associated lipocalin(NGAL),serum cystatin C(Cys C),kidney injury molecule 1(KIM-1),syndecan 1(SDC-1),heparin sulfate(HS),hyaluronic acid(HA)and serum concentrations of inflammatory markers(TNF-α,IL-6)were detected by ELISA at the above time points.The cognitive function was evaluated by the Mini-Mental State Exami-nation(MMSE)at T0,T5 and T6,and the occurrence of cognitive dysfunction(MMSE<23 points)was counted.Results There were no significant differences in MAP,HR,and CVP between the two groups at each time point(P>0.05).At T4,the serum levels of NGAL and Cys in the two groups were significantly higher than those in the other groups.C and KIM-1 increased,and the P group was significantly higher than the S group,the difference was statistically significant(P<0.05),and there was no significant difference between the two groups at other times(P>0.05);SDC-1,HS,and HA increased significantly in both groups at T3 and T4,and the P group was significantly higher than the S group at T4,the difference was statistically significant(P<0.05),and there was no significant difference between the two groups at other times(P>0.05);TNF-α and IL-6 increased significantly in both groups at T3 and T4,decreased at T5 and T6,but still higher than T0,and the P group was significantly higher than the S group at T4 and T5,the difference was statistically significant(P<0.05);MMSE scores decreased at T5 and T6,and the P score was significantly lower than the S group at T5,the difference was statisti-cally significant(P<0.05),and there was no significant difference at T6(P>0.05);there was no significant difference in the incidence of postoperative cognitive dysfunction between the two groups(P>0.05).Conclusion Compared with propofol,sevoflurane anesthesia maintenance has less effect on the degree of short-term renal injury and cognitive function changes in patients undergoing liver transplantation,which may be related to its more obvi-ous effect of inhibiting inflammatory response and reducing glycocalyx degradation.
9.The Study of Anti-inflammatory Effect of Acupuncture in Rats with Chronic Migraine Based on the α7nAChRs
Yuqi ZHENG ; Mingsheng SUN ; Yi LIU ; Mengdi ZHOU ; Leimiao YIN ; Ling ZHAO ; Dingjun CAI
World Science and Technology-Modernization of Traditional Chinese Medicine 2024;26(4):1050-1058
Objective To investigate the effect of acupuncture on the inflammatory changes of α7 nicotinic acetylcholine receptors(α7 nicotinic acetylcholine receptors,α7nAChRs)in rats with chronic migraine(CM).Methods Adult male SD rats were randomly divided into control group(VEH group),model group(NTG group),acupuncture group(TA group),α7nAChRs antagonist group(MLA group)and α7nAChRs agonist group(TA group)according to basic pain threshold.The rat model of CM was established by repeated subcutaneous injection of nitroglycerin(NTG)at the neck and back every other day.TA group and MLA group received acupuncture treatment one hour before NTG injection,20 minutes every day for 9 consecutive days.The MLA group was intraperitoneally injected with α7nAChRs antagonist MLA half an hours before acupuncture,and the PNU group was intraperitoneally injected with α7nAChRs agonist PNU-282987 half an hours before NTG injection,both groups were injected continuously for 9 days.The changes of paw withdrawal mechanical threshold(Paw Withdrawal Mechanical Threshold,PWMT)and tail-flick latency(Tail-Flick Latency,TFL)were detected by Von Frey and thermal radiation pain meter.The contents of inflammatory factors IL-1β,TNF-α and TGF-β in TNC and serum were determined by ELISA.The relative fluorescence intensity and co-expression of GFAP and α7nAChRs in TNC were detected by immunofluorescence dual labeling method.Results Compared with VEH group,PWMT and TFL in NTG group were significantly decreased(P<0.05 or P<0.01),the contents of IL-1β(P<0.01)and TNF-α(P<0.01,P<0.05)in serum and TNC were significantly increased;and in TNC,the astrocytes were activated significantly(P<0.01),while the relative fluorescence intensity of α7nAChRs and the co-expression of GFAP and α7nAChRs were significantly decreased(P<0.05,P<0.01).Compared with NTG group,PWMT and TFL in TA group were increased(P<0.05 or P<0.01),the contents of IL-1β(P<0.01)and TNF-α(P<0.01,P<0.05)in serum and TNC were increased;and in TNC,the relative fluorescence intensity of GFAP was significantly decreased(P<0.01),however the relative fluorescence intensity of α7nAChRs and the co-expression of GFAP and α7nAChRs were significantly increased(P<0.01).Compared with MLA group,PWMT and TFL in TA groups and PNU groups were significantly increased(P<0.05 or P<0.01).The contents of IL-1β(P<0.05)and TNF-α(P<0.01)in serum and TNC of TA group were increased,while the contents of TGF-β(P<0.05)were decreased.The contents of IL-1β in serum and TNC of PNU group were decreased(P<0.01,P<0.05),while the contents of TGF-β(P<0.01)were significantly increased.Conclusions Acupuncture can effectively relieve CM inflammatory response and hypersensitivity to pain,and its anti-inflammatory and analgesic effects may be related to the up-regulation of α7nAChRs expression.
10.Two cases of deficiency in ELF4 gene X-linked and literature review
Yu ZHOU ; Libo WANG ; Chunyan ZHANG ; Juan DING ; Mingsheng MA ; Hongmei SONG
Chinese Journal of Pediatrics 2024;62(12):1164-1168
Objective:To summarize the clinical phenotype and genetic characteristics of deficiency in ELF4 gene X-linked (DEX).Methods:A case series study was conducted to retrospectively analyze the clinical data and genetic testing results of 2 cases of DEX treated at Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and the First Hospital of Jilin University from January 2023 to April 2024. And literature up to April 2024 was searched from the PubMed database, as well as CNKI and Wanfang databases, using keywords such as "ELF4 deficiency" "deficiency in ELF4, X-linked""ELF4 gene". The main clinical manifestations and genotypes of DEX were summarized.Results:Both patients were male, with onset ages of 3 months and 3 years, respectively. Both patients presented with recurrent oral ulcers and abdominal pain. And the laboratory examination showed a significant increase in inflammatory markers. Intestinal examinations showed multiple intestinal ulcers, and both patients developed intestinal fistulas. Whole exome sequencing found ELF4 c.799C>T, p Arg267Trp and ELF4 c. 248-7G>A, both maternal variants. Based on clinical and genetic results, DEX were diagnosed. In terms of treatment, both patients underwent surgical treatment during the acute phase of the disease and received anti-tumor necrosis factor α therapy, but recurrent gastrointestinal symptoms were still observed in Patient 1, while the clinical effect in Patient 2 was still acceptable. However, the inflammatory markers in both patients were not normal even after treatment. Literature review found 18 patients including 2 patients in this study, reported in 5 English articles and no Chinese reports. Thirteen patients had disease onset age before 5. The main clinical manifestations were fever (12/17), oral ulcers (14/18), abdominal pain (8/18), diarrhea (6/18), perianal ulcers (5/17), ileum ulcers (6/16), colon ulcers (7/16), skin involvement (7/17) and recurrent infections (7/18); laboratory examinations found increased erythrocyte sedimentation rate (13/15) as well as C-reactive protein (9/9), and anemia (13/15); in terms of immunological function, there is a decrease in natural killer cells (9/15) as well as a decrease in class switching memory B cells (8/9). The main types of gene variantions were missense variantions (6/18), nonsense variantions (4/18) or frameshift variantions (3/18).Conclusions:DEX should be considered when an early-onset male patient manifested with recurrent fever, oral ulcers or mucosal ulcers, with elevated inflammatory markers, with or without recurrent infection. It is recommended to perform lymphocyte subsets analysis, gastrointestinal endoscopy and genetic testing to support the diagnosis.

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