1.A Case of Multidisciplinary Treatment for a Patient with Gorham-Stout Disease
Jing HU ; Ying JIN ; Yan ZHANG ; Ji LI ; Wenhui WANG ; Yue CHI ; Chunxu LI ; Zhenjie ZHANG ; Yaping LIU ; Xiaotian CHU ; Jin XU ; Min SHEN
JOURNAL OF RARE DISEASES 2026;5(1):52-59
Gorham-Stout disease(GSD) is a rare osteolytic disorder characterized by spontaneous and progressive osteolysis, along with abnormal angiogenesis and lymphangiogenesis, with no new bone formation. We present a case of a 15-year-old female admitted due to " recurrent right leg pain for 5 years, 11 months after undergoing right femoral fracture surgery". Through comprehensive integration of the patient's clinical phenotype, laboratory tests, imaging findings, pathological examinations, and molecular biological test results, GSD was considered highly likely. A multidisciplinary treatment approach was conducted, including a combination of zoledronic acid and sirolimus to inhibit osteolysis, along with rehabilitation training and orthopedic intervention, providing a personalized and comprehensive treatment strategy.
2.The 514th case: urinary stone excretion, elevated blood glucose, pancreatic mass,and co-secretion of multiple hormones
Yiran ZHANG ; Zhixiang WANG ; Yan JIANG ; Wenjing LIU ; Runing ZHOU ; Yue CHI
Chinese Journal of Internal Medicine 2025;64(12):1248-1254
A 44-year-old male presented with a 19-year history of urinary calculi and a 1-year history of polydipsia and weight loss. Laboratory tests revealed hyperparathyroidism and evidence of glucagonoma-associated diabetes. Imaging studies identified masses in the pancreatic head and body/tail, suggestive of glucagonoma and a parathyroid adenoma. Furthermore, the patient exhibited hypercalcitoninemia and elevated cortisol and adrenocorticotropic hormone levels. Genetic testing revealed a heterozygous MEN1 mutation [c.65T>G (p.Leu22Arg)], confirming the diagnosis of multiple endocrine neoplasia type 1 (MEN-1). The patient subsequently underwent near-total parathyroidectomy and total pancreatectomy. Postoperative immunohistochemical staining of the pancreatic tail tumor was positive for glucagon and calcitonin. The patient′s postoperative hormone levels (calcitonin, glucagon, adrenocorticotropic hormone, cortisol) normalized, suggesting a rare pancreatic neuroendocrine tumor (pNET) that was co-secreting multiple hormones. Postoperative management included pancreatic enzyme supplementation, calcium supplementation, vitamin D supplementation, and insulin for glycemic control. Follow-up evaluations at 10 months demonstrated a stable clinical condition, well-controlled blood glucose and biochemical parameters, and an acceptable quality of life. This case study highlights that the presence of pNETs should be considered in patients with MEN-1 and multiple abnormal hormone levels. Timely surgical management of the involved glands and postoperative complications can effectively improve prognosis.
4.Survival characteristics of myelodysplastic syndrome with U2AF1-mutation and the clinical efficacy of arsenic-containing traditional Chinese medicine compound prescription
Chaochang ZHANG ; Chi LIU ; Dexiu WANG ; Zhuo CHEN ; Yan LYU ; Haiyan XIAO ; Weiyi LIU ; Yonggang XU ; Xiupeng YANG ; Rou MA ; Xudong TANG
Journal of Beijing University of Traditional Chinese Medicine 2025;48(9):1211-1221
Objective To explore the clinical characteristics of myelodysplastic syndrome(MDS)with U2 small nuclear RNA cofactor 1(U2AF1)mutation in different age groups,as well as the efficacy and prognosis of an arsenic-containing traditional Chinese medicine(TCM)compound prescription(Qinghuang Capsules combined with Bushen Yijing Formula).Methods A retrospective analysis was conducted on the clinical data of patients with MDS who were hospitalized in the Hematology Department Ward of Xiyuan Hospital,China Academy of Chinese Medical Sciences,and received arsenic-containing TCM compound treatment from November 30,2020,to September 30,2023.Stratified by age,the U2AF1 mutation and wild-type groups aged<65 years and≥65 years were compared in terms of sex,TCM syndrome,World Health Organization classification,MDS Revised International Prognostic Score System(IPSS-R)score,blood routine indicators,serum lactate dehydrogenase content,nephroblastoma 1(WT1)expression level,bone marrow puncture and biopsy indicators,and chromosomal prognostic grades,et al.Furthermore,the efficacy of arsenic-containing TCM compound were compared in the U2AF1 mutation and wild-type groups among different age groups,as well as the influence of age on the survival prognosis of MDS patients with U2AF1 mutation.Results A total of 201 patients with MDS were included.104 patients were under 65 years old,among whom 20 had U2AF1 mutation,and 84 had wild-type.Ninety-seven patients were aged 65 years or older,among whom 19 patients had the U2AF1 mutation and 78 had the wild-type.Among patients aged<65 years,the U2AF1 mutation group had a higher proportion of male patients and very low-risk/low-risk patients with an IPSS-R score≤3(P<0.05),a lower mean corpuscular volume(MCV)(P<0.05),and a relatively higher proportion of peripheral blood cell line 1 reduction than the wild-type group(P<0.05).Among patients aged≥65 years,the MCV in the U2AF1 mutation group was lower(P<0.05),and the expression level of the bone marrow WT1 gene and the proportion of patients with reticular fiber grade 4 were relatively higher than in the wild-type group(P<0.05).The total effective rate of the arsenic-containing TCM compound for patients with U2AF1 mutation was 61.5%(24/39),and the total response rate was 30.8%(12/39).The total effective rate for the wild-type patients was 67.9%(110/162),and the total response rate was 29.6%(48/162).No significant difference was observed in the total effective and response rates.Kaplan-Meier survival analysis of 39 patients with U2AF1 mutation revealed that the median overall survival(mOS)of patients older than 65 years had not been reached.The 1-,2-,and 3-year survival rates were 93.8%,84.4%,and 84.4%,respectively.The mOS of the patients aged≥65 years was 35 months(95%confidence interval[CI]:7.559-62.441),and the 1-,2-,and 3-year survival rates were 66.2%,58.9%,and 29.4%,respectively.The mOS of patients in the aged≥65 years group was significantly lower than that in the aged<65 years group(P<0.05),and no significant difference was observed in median progression-free survival between the two groups.Conclusion The U2AF1 mutation is closely associated with the clinical characteristics of MDS.However,age and the presence of U2AF1 mutation have no significant effect on the total effective and response rates of arsenic-containing TCM compound.Age is a significant factor influencing the prognosis of patients with MDS with U2AF1 mutation.Patients aged 65 years or older have a shorter survival time than those younger than 65 years.
5.Orthodontic considerations and timing selection for patients with stage Ⅳ periodontitis
Yan PENG ; Chi ZHANG ; Li GAO ; Xiting LI ; Chuanjiang ZHAO
STOMATOLOGY 2025;45(1):25-36
Patients suffering from stage Ⅳ periodontitis manifest substantial alveolar bone destruction and pronounced tooth loss,fre-quently accompanied by masticatory dysfunction,occlusal disorder and tooth displacement or torsion.Standard periodontal interventions alone are insufficient to stabilize the condition,address masticatory dysfunction,and enhance patients'quality of life.Hence,intricate reconstructive and interdisciplinary regimens,encompassing orthodontic treatment,are often indispensable.Orthodontic therapy can op-timize the masticatory function and esthetic appearance of patients,and promote periodontal well-being.However,individuals with stageⅣ periodontitis present with inadequate periodontal support tissue and a heightened risk profile,rendering their orthodontic management a considerable clinical challenge.This article reviews the orthodontic considerations and optimal timing for intervention in patients with stage Ⅳ periodontitis and presents a representative case of combined periodontal-orthodontic-orthognathic treatment for pe-riodontitis(stage Ⅳ,grade C),in order to provide reference for periodontists and orthodontists.
6.Efficacy of ultrasound therapy combined with muscle imbalance adjustment training in patients with adhesive capsulitis of the shoulder
Runhong CUI ; Yan CHI ; Di ZHANG ; Hexiao GAO ; Xue JIANG
The Journal of Practical Medicine 2025;41(2):208-214
Objective To explore the short and long term efficacy of ultrasound therapy combined with muscle imbalance adjustment training in patients with adhesive capsulitis(AC) ofthe shoulder. Methods A total of 60 AC patients were divided into an observation group and a control group,both each consisting of 30 cases. The observation group underwentultrasound therapy along with muscle imbalance adjustment training,while the control group received acupuncture treatment,both for a duration of 20 days. The Visual Analogue Scale(VAS),goniom-eter for ROM,Manual Muscle Testing(MMT),Constant-Murley Shoulder Score,and modified Barthel index were used to access shoulder jointpain level,range of motion (ROM),peripheral muscle strength,shoulder joint func-tion,and daily living abilities,respectively. The Hamilton Anxiety Scale (HAMA) and Hamilton Depression Scale (HAMD) were utilized to evaluate the levels of anxiety and depression.All the assessments were conducted and compared between the two groups before treatment,at the end of treatment,and at 6 and 12 months after treatment. Results Both groups showed varying degrees of improvement in ROM,MMT,VAS,Constant-Murley score,modified Barthel index,and emotional status compared to pre-treatment. The observation group demonstrated superior outcomes in posterior shoulder extension strength,VAS,Constant-Murley score,modified Barthel index,HAMA,and HAMD scores at the end of treatment (P<0.05). At 6 months post-treatment,the observation group showed better shoulder joint flexion,extension,abduction,and adduction ROM,as well as muscle strength in flexion,external rotation,and internal rotation,VAS,Constant-Murley score,modified Barthel index,HAMA,and HAMD scores. At 12 months after treatment,the observation group continued to show superior outcomes in all the aforementioned indexes (P<0.05). Conclusion The combination of ultrasound therapy and muscle imbalance adjustment training can effectively reduce shoulder joint pain,improve ROM,enhance muscle strength around the shoulder joint,improve shoulder joint function,alleviate anxiety and depression,and ultimately enhance the quality of life for patients with AC.
7.Development and reliability and validity test of an ICU patient care difficulty index system based on psychosocial factors
Xiaoshuang ZHAO ; Zhuo YANG ; Hui ZHANG ; Hongli CHI ; Ting NI ; Yan YANG
Modern Clinical Nursing 2025;24(5):56-64
Objective To develop an ICU patient care difficulty index based on psychosocial factors and to evaluate its reliability and validity,thereby providing a comprehensive tool for assessing the difficulties in ICU patient care.Methods Guided by Guarinoni theory,an index system was developed through systematic literature reviews,semi-structured interviews,two rounds of Delphi expert consultation and the analytic hierarchy process.Based on the drafted system,a questionnaire was formulated.The tests for validity and reliability were conducted on 290 patients selected by convenience sampling.Results The finalised ICU patient care difficulty index system was composed of 5 primary indices(the general condition of the patient,disease condition,nursing condition,social support,and organizational characteristics),13 secondary indices and 27 tertiary indices.The Kendall's coefficient of coordination W values were 0.380 and 0.498,respectively,indicating a statistically significant agreement(both P<0.001).The system demonstrated a robust reliability(Cronbach's α=0.896)and a good internal consistency.Validity was confirmed through a scale level-content validity index(S-CVI)of 0.94 and the item level-content validity indices(I-CVI)ranged from 0.87 to 1.00.Structural validity analysis,based on 8 extracted public factors,showed a cumulative variance contribution rate of 66.34%.Conclusion The ICU patient care difficulty index system shows a high reliability and validity,making it a valuable tool for accurately quantification of the difficulty in ICU patient care.This system provides a scientific basis for allocation of ICU nursing resource and performance distribution.
8.Epidemiological characteristics of mumps in China from 2020 to 2023
Xujing CHI ; Miaomiao LUO ; Zhen ZHU ; Naiying MAO ; Yan ZHANG ; Aili CUI
Chinese Journal of Experimental and Clinical Virology 2025;39(1):34-40
Objective:To analyze the epidemiological characteristics of mumps in China under the immunization strategies of different doses of mumps-containing vaccines(MuCV) by analyzing the national mumps surveillance data from 2020 to 2023.Methods:Based on the national mumps surveillance data from 2020 to 2023, a comparative analysis was conducted on the mumps incidence and the distribution characteristics of mumps cases in time, region and population in the three different periods of 2004-2007 (without MuCV implementation), 2008-2019 (one-dose MuCV implementation) and 2020-2023 (two-dose MuCV implementation) in China.Results:From 2020 to 2023, the annual incidence rate of mumps was 6.48-9.20/100 000, and the annual number of reported cases was 91 303-129 120 cases. After the implementation of the 2-dose MuCV immunization strategy, the epidemiological characteristics of mumps in China have changed to some extent. Compared with the period of 2004-2007 and 2008-2019, the traditional seasonal epidemic pattern of mumps disappeared from 2020 to 2023, with no obvious epidemic peak throughout the year. There was no significant regional difference in the incidence of mumps. Children and adolescents under 15 years of age were the main population of mumps (accounting for 85.46%), of which children aged 5-9 years accounted for 45.07%. Compared with the period of 2004-2007 and 2008-2019, the proportion of mumps cases in the 0-4 years old group showed an increasing trend, the proportion of mumps cases in the 10-14 years old group showed a decreasing trend, and the proportion of adult cases over 40 years old also increased from 2020 to 2023. The age group with the highest incidence of mumps was found to have shifted from 7 years old to 4 years old.Conclusions:The 2-dose MuCV immunization strategy has effectively reduced the incidence of mumps in China. It is necessary to strengthen the surveillance of mumps in kindergartens and primary school children.
9.Survival characteristics of myelodysplastic syndrome with U2AF1-mutation and the clinical efficacy of arsenic-containing traditional Chinese medicine compound prescription
Chaochang ZHANG ; Chi LIU ; Dexiu WANG ; Zhuo CHEN ; Yan LYU ; Haiyan XIAO ; Weiyi LIU ; Yonggang XU ; Xiupeng YANG ; Rou MA ; Xudong TANG
Journal of Beijing University of Traditional Chinese Medicine 2025;48(9):1211-1221
Objective To explore the clinical characteristics of myelodysplastic syndrome(MDS)with U2 small nuclear RNA cofactor 1(U2AF1)mutation in different age groups,as well as the efficacy and prognosis of an arsenic-containing traditional Chinese medicine(TCM)compound prescription(Qinghuang Capsules combined with Bushen Yijing Formula).Methods A retrospective analysis was conducted on the clinical data of patients with MDS who were hospitalized in the Hematology Department Ward of Xiyuan Hospital,China Academy of Chinese Medical Sciences,and received arsenic-containing TCM compound treatment from November 30,2020,to September 30,2023.Stratified by age,the U2AF1 mutation and wild-type groups aged<65 years and≥65 years were compared in terms of sex,TCM syndrome,World Health Organization classification,MDS Revised International Prognostic Score System(IPSS-R)score,blood routine indicators,serum lactate dehydrogenase content,nephroblastoma 1(WT1)expression level,bone marrow puncture and biopsy indicators,and chromosomal prognostic grades,et al.Furthermore,the efficacy of arsenic-containing TCM compound were compared in the U2AF1 mutation and wild-type groups among different age groups,as well as the influence of age on the survival prognosis of MDS patients with U2AF1 mutation.Results A total of 201 patients with MDS were included.104 patients were under 65 years old,among whom 20 had U2AF1 mutation,and 84 had wild-type.Ninety-seven patients were aged 65 years or older,among whom 19 patients had the U2AF1 mutation and 78 had the wild-type.Among patients aged<65 years,the U2AF1 mutation group had a higher proportion of male patients and very low-risk/low-risk patients with an IPSS-R score≤3(P<0.05),a lower mean corpuscular volume(MCV)(P<0.05),and a relatively higher proportion of peripheral blood cell line 1 reduction than the wild-type group(P<0.05).Among patients aged≥65 years,the MCV in the U2AF1 mutation group was lower(P<0.05),and the expression level of the bone marrow WT1 gene and the proportion of patients with reticular fiber grade 4 were relatively higher than in the wild-type group(P<0.05).The total effective rate of the arsenic-containing TCM compound for patients with U2AF1 mutation was 61.5%(24/39),and the total response rate was 30.8%(12/39).The total effective rate for the wild-type patients was 67.9%(110/162),and the total response rate was 29.6%(48/162).No significant difference was observed in the total effective and response rates.Kaplan-Meier survival analysis of 39 patients with U2AF1 mutation revealed that the median overall survival(mOS)of patients older than 65 years had not been reached.The 1-,2-,and 3-year survival rates were 93.8%,84.4%,and 84.4%,respectively.The mOS of the patients aged≥65 years was 35 months(95%confidence interval[CI]:7.559-62.441),and the 1-,2-,and 3-year survival rates were 66.2%,58.9%,and 29.4%,respectively.The mOS of patients in the aged≥65 years group was significantly lower than that in the aged<65 years group(P<0.05),and no significant difference was observed in median progression-free survival between the two groups.Conclusion The U2AF1 mutation is closely associated with the clinical characteristics of MDS.However,age and the presence of U2AF1 mutation have no significant effect on the total effective and response rates of arsenic-containing TCM compound.Age is a significant factor influencing the prognosis of patients with MDS with U2AF1 mutation.Patients aged 65 years or older have a shorter survival time than those younger than 65 years.
10.Research progress of digital technology-assisted walking rehabilitation in post-stroke hemiplegic patients
Yan CHI ; Di ZHANG ; Hexiao GAO ; Xue JIANG
The Journal of Practical Medicine 2025;41(15):2426-2434
As population aging intensifies,stroke incidence is rising yearly.Complicated with neurological impairment,this condition often leads to motor dysfunction,affecting walking stability and coordination and severely impacting the patient's daily life and mental state.In recent years,digital technology-assisted walking rehabilitation training has shown great potential in post-stroke rehabilitation.By integrating modern digital technolo-gies such as virtual reality,intelligent feedback systems,and remote rehabilitation,this approach not only provides personalized rehabilitation plans but also promotes the recovery of walking function through immersive training,real-time feedback,and remote monitoring.This article reviews the application status,effectiveness,and limita-tions of digital-technology-assisted walking rehabilitation for post-stroke hemiplegic patients.It aims to clarify the new direction of post-stroke walking training and explore more effective rehabilitation methods to help patients regain their walking ability.

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