1.Structural content and psychometric properties of fundamental movement skills assessment scales for school-age children based on ICF-CY:a systematic review
Haoqi ZHANG ; Hua LIU ; Pu SUN ; Yanfei WEN ; Jiyue ZHANG ; Lu YANG
Chinese Journal of Rehabilitation Theory and Practice 2025;31(10):1172-1180
Objective To rexplore the content structure characteristics and psychometric properties of assessment scales for funda-mental movement skills(FMS)in school-aged children,based on International Classification of Functioning,Dis-ability and Health-Children and Youth Version(ICF-CY)framework.Methods Literatures on assessment scales for FMS in school-aged children were retrieved from PubMed,Science Di-rect,Web of Science,EMBase,PsycINFO,CNKI and Wanfang data from inception to July,2025.The contents of the included scales were analyzed using the ICF-CY linking rule.The COSMIN RoB tool was used to assess the psychometric properties of the scales,and the GRADE system was applied to evaluate the overall quality of evi-dence.Results A total of 29 studies were included,involving six assessment scales:Bruininks-Oseretsky Test of Motor Profi-ciency-2(BOT-2),Canadian Assessment of Movement Skill and Agility(CAMSA),K?rperkoordinationstest für Kinder(KTK),Movement Assessment Battery for Children-2(MABC-2),Motorische Basiskompetenzen test Battery(MOBAK),and Test of Gross Motor Development-3(TGMD-3).In the ICF-CY linking analysis,all six tools addressed joint mobility functions(b710)and joint stability functions(b715),while five of them also in-volved hand and arm use(d445).The number of linked items ranged from 5 to 11.BOT-2 and TGMD-3 linked to 11 items,showing broad coverage;BOT-2 focused more on the body function dimension,whereas TGMD-3 em-phasized activity and participation dimensions,especially the performance of hand function in daily activities.In bias risk assessment,TGMD-3 showed the lowest risk(50%rated A and 50%rated B),while MABC-2 had the highest proportion of C ratings(55.6%),followed by BOT-2(33.3%).In evidence grading,TGMD-3 was rated high quality,KTK moderate,BOT-2 and CAMSA low,and MABC-2 and MOBAK very low.Conclusion TGMD-3 is recommended as the primary tool for assessing FMS in school-aged children for broad coverage of ICF-CY items,strong psychometric properties and high evidence quality.KTK,with moderate evidence quali-ty,may serve as a secondary option,but should be used cautiously in China.Although CAMSA is easy to admin-ister,its validity and reliability are low,so it is only suitable for rapid classroom screening.BOT-2,despite cover-ing more ICF-CY items,has a higher bias risk and low evidence quality.MOBAK and MABC-2 have very low evidence quality and are not recommended for current use.
2.Structural content and psychometric properties of fundamental movement skills assessment scales for school-age children based on ICF-CY:a systematic review
Haoqi ZHANG ; Hua LIU ; Pu SUN ; Yanfei WEN ; Jiyue ZHANG ; Lu YANG
Chinese Journal of Rehabilitation Theory and Practice 2025;31(10):1172-1180
Objective To rexplore the content structure characteristics and psychometric properties of assessment scales for funda-mental movement skills(FMS)in school-aged children,based on International Classification of Functioning,Dis-ability and Health-Children and Youth Version(ICF-CY)framework.Methods Literatures on assessment scales for FMS in school-aged children were retrieved from PubMed,Science Di-rect,Web of Science,EMBase,PsycINFO,CNKI and Wanfang data from inception to July,2025.The contents of the included scales were analyzed using the ICF-CY linking rule.The COSMIN RoB tool was used to assess the psychometric properties of the scales,and the GRADE system was applied to evaluate the overall quality of evi-dence.Results A total of 29 studies were included,involving six assessment scales:Bruininks-Oseretsky Test of Motor Profi-ciency-2(BOT-2),Canadian Assessment of Movement Skill and Agility(CAMSA),K?rperkoordinationstest für Kinder(KTK),Movement Assessment Battery for Children-2(MABC-2),Motorische Basiskompetenzen test Battery(MOBAK),and Test of Gross Motor Development-3(TGMD-3).In the ICF-CY linking analysis,all six tools addressed joint mobility functions(b710)and joint stability functions(b715),while five of them also in-volved hand and arm use(d445).The number of linked items ranged from 5 to 11.BOT-2 and TGMD-3 linked to 11 items,showing broad coverage;BOT-2 focused more on the body function dimension,whereas TGMD-3 em-phasized activity and participation dimensions,especially the performance of hand function in daily activities.In bias risk assessment,TGMD-3 showed the lowest risk(50%rated A and 50%rated B),while MABC-2 had the highest proportion of C ratings(55.6%),followed by BOT-2(33.3%).In evidence grading,TGMD-3 was rated high quality,KTK moderate,BOT-2 and CAMSA low,and MABC-2 and MOBAK very low.Conclusion TGMD-3 is recommended as the primary tool for assessing FMS in school-aged children for broad coverage of ICF-CY items,strong psychometric properties and high evidence quality.KTK,with moderate evidence quali-ty,may serve as a secondary option,but should be used cautiously in China.Although CAMSA is easy to admin-ister,its validity and reliability are low,so it is only suitable for rapid classroom screening.BOT-2,despite cover-ing more ICF-CY items,has a higher bias risk and low evidence quality.MOBAK and MABC-2 have very low evidence quality and are not recommended for current use.
3.SAPHO syndrome in elderly patients with organizing pneumonia: a case report and literature review
Jia CUI ; Jianing WEN ; Lixue HUANG ; Fang FANG ; Min ZHANG ; Yanming LI ; Xiaomao XU ; Yanfei GUO
Chinese Journal of Geriatrics 2025;44(11):1556-1561
Objective:To summarize the clinical characteristics of SAPHO syndrome in elderly patients with organizing pneumonia.Methods:We reported a case of SAPHO syndrome in an elderly patient with organizing pneumonia.Relevant reports on SAPHO syndrome with organizing pneumonia at home and abroad were retrieved, and the literature was summarized an analyzed.Results:The patient was a 63-year-od female who was admitted to the hospital due to "intermittent fever and cough for more than two months". Before admission, she was previously diagnosed with pneumonia in another hospital with poor response to anti-infective treatment.Chest CT showed multiple bilateral patchy consolidations in both lungs, with migratory changes and reversed halo signs.Her medical history included bone and joint pain(e.g., sternoclavicular joints)and palmoplantar pustulosis.Lung biopsy pathology confirmed organizing pneumonia. 99mTc-MDP bone scintigraphy revealed abnormal bone salt metabolism in multiple bone and joint areas.The final diagnosis was SAPHO syndrome with organizing pneumonia.Both symptoms and imaging significantly improved after prednisone treatment.Two related cases were retrieved from the literature.One was a 57-year-old female reported in the UK, who had been diagnosed with SAPHO syndrome before and was found to have lung consolidations due to respiratory symptoms.Lung biopsy confirmed organizing pneumonia, and she improved after glucocorticoid treatment.The other was a 59-year-old Chinese female who visited hospital due to pain in the lumbosacral part and left lower limb.After being diagnosed with SAPHO syndrome, a chest CT scan was performed and lung consolidations were found.The pathology confirmed organizing pneumonia.The patient improved after treatment with Tripterygium wilfordii. Conclusion:SAPHO syndrome complicated with organizing pneumonia is rare, with diverse clinical manifestations, and responds well to glucocorticoid therapy.
4.Clinicopathological misdiagnosis analysis of atypical teratoid/rhabdoid tumors
Yanfei LIU ; Xiaosong YAN ; Tingting LI ; Junpeng HUI ; Yuting WEN ; Huangtao CHEN ; Zhe WANG ; Li YANG
Chinese Journal of Applied Clinical Pediatrics 2025;40(2):120-124
Objective:To analyze the clinicopathological characteristics of atypical teratoid/rhabdoid tumors (AT/RT) and the causes of pathological misdiagnosis, and summarize diagnostic strategies.Methods:A case series study was conducted.Specifically, the data of 5 misdiagnosed(misdiagnosed group) and 8 confirmed AT/RT cases(confirmed group) in the Department of Pathology of Xi′an Children′s Hospital from January 2010 to December 2018 were retrospectively analyzed.Hematoxylin-eosin and immunohistochemical staining were performed to analyze clinical features, morphology, and immune phenotypes.Rates were compared between the misdiagnosed and confirmed groups by a Fisher′s exact test.Means were compared using an independent sample t-test.Medians were compared by a Mann-Whitney U test. Results:(1)There were 4 males and 1 female in the misdiagnosed group, with a median age of 24 months.In this group, 4/5 tumors were located in the posterior cranial fossa, and 1/5 tumors were located in the spinal cord.Morphologically, rhabdoid cells were detected in 3/5 cases, and the other 2/5 cases consisted of small embryonal cells.Immunohistochemically, INI1 and BRG1 expressions were absent in 4/5 and 1/5 cases, respectively.All of them showed multiple immunephenotypes.There were 7 males and 1 female in the confirmed group, with a median age of 22 months.In the confirmed group, 4/8 tumors were located in the supratentorial region and 4/8 tumors were located in the infratentorial region.Rhabdoid cells, deficient INI1 expression and multiple immunephenotypes were observed in all 8 cases.(2)The percentage of rhabdoid cells in the misdiagnosed group was significantly lower[0.45(0, 0.46)] than that in the confirmed group[0.55(0.40, 0.85)]( Z=-2.064, P=0.039). Conclusions:The causes of misdiagnosis of AT/RT are variable sites of occurrence, diverse histomorphology, multiple phenotypes in immunohistochemistry and rare BRG1 deficiency.For high-grade rhabdoid, epithelioid, and/or embryonic small cell tumors, AT/RT should be differentiated and immunohistochemistry protocols should include INI1 and BRG1.
5.Clinicopathological misdiagnosis analysis of atypical teratoid/rhabdoid tumors
Yanfei LIU ; Xiaosong YAN ; Tingting LI ; Junpeng HUI ; Yuting WEN ; Huangtao CHEN ; Zhe WANG ; Li YANG
Chinese Journal of Applied Clinical Pediatrics 2025;40(2):120-124
Objective:To analyze the clinicopathological characteristics of atypical teratoid/rhabdoid tumors (AT/RT) and the causes of pathological misdiagnosis, and summarize diagnostic strategies.Methods:A case series study was conducted.Specifically, the data of 5 misdiagnosed(misdiagnosed group) and 8 confirmed AT/RT cases(confirmed group) in the Department of Pathology of Xi′an Children′s Hospital from January 2010 to December 2018 were retrospectively analyzed.Hematoxylin-eosin and immunohistochemical staining were performed to analyze clinical features, morphology, and immune phenotypes.Rates were compared between the misdiagnosed and confirmed groups by a Fisher′s exact test.Means were compared using an independent sample t-test.Medians were compared by a Mann-Whitney U test. Results:(1)There were 4 males and 1 female in the misdiagnosed group, with a median age of 24 months.In this group, 4/5 tumors were located in the posterior cranial fossa, and 1/5 tumors were located in the spinal cord.Morphologically, rhabdoid cells were detected in 3/5 cases, and the other 2/5 cases consisted of small embryonal cells.Immunohistochemically, INI1 and BRG1 expressions were absent in 4/5 and 1/5 cases, respectively.All of them showed multiple immunephenotypes.There were 7 males and 1 female in the confirmed group, with a median age of 22 months.In the confirmed group, 4/8 tumors were located in the supratentorial region and 4/8 tumors were located in the infratentorial region.Rhabdoid cells, deficient INI1 expression and multiple immunephenotypes were observed in all 8 cases.(2)The percentage of rhabdoid cells in the misdiagnosed group was significantly lower[0.45(0, 0.46)] than that in the confirmed group[0.55(0.40, 0.85)]( Z=-2.064, P=0.039). Conclusions:The causes of misdiagnosis of AT/RT are variable sites of occurrence, diverse histomorphology, multiple phenotypes in immunohistochemistry and rare BRG1 deficiency.For high-grade rhabdoid, epithelioid, and/or embryonic small cell tumors, AT/RT should be differentiated and immunohistochemistry protocols should include INI1 and BRG1.
6.SAPHO syndrome in elderly patients with organizing pneumonia: a case report and literature review
Jia CUI ; Jianing WEN ; Lixue HUANG ; Fang FANG ; Min ZHANG ; Yanming LI ; Xiaomao XU ; Yanfei GUO
Chinese Journal of Geriatrics 2025;44(11):1556-1561
Objective:To summarize the clinical characteristics of SAPHO syndrome in elderly patients with organizing pneumonia.Methods:We reported a case of SAPHO syndrome in an elderly patient with organizing pneumonia.Relevant reports on SAPHO syndrome with organizing pneumonia at home and abroad were retrieved, and the literature was summarized an analyzed.Results:The patient was a 63-year-od female who was admitted to the hospital due to "intermittent fever and cough for more than two months". Before admission, she was previously diagnosed with pneumonia in another hospital with poor response to anti-infective treatment.Chest CT showed multiple bilateral patchy consolidations in both lungs, with migratory changes and reversed halo signs.Her medical history included bone and joint pain(e.g., sternoclavicular joints)and palmoplantar pustulosis.Lung biopsy pathology confirmed organizing pneumonia. 99mTc-MDP bone scintigraphy revealed abnormal bone salt metabolism in multiple bone and joint areas.The final diagnosis was SAPHO syndrome with organizing pneumonia.Both symptoms and imaging significantly improved after prednisone treatment.Two related cases were retrieved from the literature.One was a 57-year-old female reported in the UK, who had been diagnosed with SAPHO syndrome before and was found to have lung consolidations due to respiratory symptoms.Lung biopsy confirmed organizing pneumonia, and she improved after glucocorticoid treatment.The other was a 59-year-old Chinese female who visited hospital due to pain in the lumbosacral part and left lower limb.After being diagnosed with SAPHO syndrome, a chest CT scan was performed and lung consolidations were found.The pathology confirmed organizing pneumonia.The patient improved after treatment with Tripterygium wilfordii. Conclusion:SAPHO syndrome complicated with organizing pneumonia is rare, with diverse clinical manifestations, and responds well to glucocorticoid therapy.
7.Effect of exercise therapy on chronic nonspecific neck pain:a meta-analysis based on ICF
Yanfei WEN ; Lu YANG ; Yue BAN ; Ykabaru Daniela BERBESI NORIEGA ; Haoqi ZHANG ; Li WANG ; Hua LIU
Chinese Journal of Rehabilitation Theory and Practice 2024;30(7):778-788
Objective To systematically evaluate the effect of exercise therapy on body structure,function,and activity and partici-pation in patients with chronic nonspecific neck pain(CNSNP)based on the International Classification of Func-tioning,Disability and Health(ICF)framework. Methods A PICO framework was constructed,and randomized controlled trials(RCTs)on the intervention of different types of exercise therapy for patients with CNSNP were retrieved from databases of CBM,Wanfang data,VIP,CNKI,Cochrane Library,Embase,PubMed and Web of Science,from the establishment to March,2024.The quality of the literature was evaluated with Cochrane Risk of Bias Tool and Physiotherapy Evidence Database(PEDro)scale,and the evidence quality of the outcome indicators was evaluated using GRADE.Data were syn-thesized and analyzed using RevMan 5.3,and the risk of bias was evaluated using Stata 18.0. Results A total of eleven RCTs involving 668 subjects were included.The scores of PEDro scale were five to eight.The types of interventions included muscle strength training,stability training,proprioception training,Yoga and Pi-lates.The control groups received placebo,physical factor therapy and health education.Exercise therapy could increase the craniovertebral angle(SMD=0.84,95%CI 0.42 to 1.26,P<0.001),reduce the Visual Analogue Scale score(SMD=-2.05,95%CI-2.58 to-1.52,P<0.001),increase the pressure pain threshold(MD=112.27,95%CI 75.03 to 149.50,P<0.001),increase the range of motion of cervical forward(SMD=1.24,95%CI 0.34 to 2.15,P=0.007)and lateral(SMD=1.52,95%CI 0.40 to 2.65,P=0.008)flexion,and improve the endurance of the deep cervical flexors(SMD=1.02,95%CI 0.10 to 1.94,P=0.03)and position sense of the cervical spine(SMD=-1.00,95%CI-1.47 to-0.53,P<0.001);however,it was not significant in improving the range of motion of backward flexion(SMD=0.85,95%CI-1.04 to 2.75,P=0.38)and rotation(SMD=1.65,95%CI-0.35 to 3.65,P=0.11).Exercise therapy could also reduce the Neck Disability Index score(MD=-11.88,95%CI-16.09 to-7.68,P<0.001),and it was no significant in the Short-Form-36 score(MD=19.04,95%CI-3.00 to 41.08,P=0.09). Conclusion Exercise therapy can improve head posture,pain,motion of forward flexion and lateral flexion,endurance of the cervical flexors and joint position sense,and the overall function in patients with CNSNP.However,fur-ther researches are needed to verify the effects on cervical backward flexion and rotation,and quality of life.
8.Application of Clinical and Ultrasound-Based Model in Secondary Hyperparathyroidism
Jinmei MA ; Xinhui SHI ; Yanfei KANG ; Chunli CAO ; Wen LIU ; Jing CHENG ; Jun LI
Chinese Journal of Medical Imaging 2024;32(5):447-453
Purpose To explore the application value of clinical-ultrasound parameter model in secondary hyperparathyroidism(SHPT).Materials and Methods A total of 86 patients(134 lesions)with renal insufficiency who underwent maintenance hemodialysis in the First Affiliated Hospital of Shihezi University from October 2020 to August 2022 were included and divided into group 1 according to the level of parathyroid hormone(iPTH)(iPTH<300 pg/ml),group 2(iPTH 300-800 pg/ml)and group 3(iPTH≥800 pg/ml),all patients underwent gray-scale parathyroid ultrasound and acoustic palpation tissue quantitative imaging examinations.The characteristics of glandular gray-scale ultrasound and virtual touch tissue imaging quantification parameters between different groups,combined with relevant clinical indicators,established a clinical-ultrasound parameter model,used multiple linear regression to analyze the correlation between the model and iPTH,explored the independent risk factors of iPTH,and evaluated this model to evaluate SHPT the value of.Results There were significant differences in dialysis age,phosphorus,alkaline phosphatase,serum creatinine,corrected calcium and phosphorus product,lesion size,number,echo,shear wave velocity(SWV)max,SWVcen,and SWVmean among the three groups(F/x2/H=6.396-53.524,all P<0.05).Dialysis age,phosphorus,alkaline phosphatase,and SWVratio were independent influencing factors of iPTH level(β=0.514,0.422,0.226,-0.368,all P<0.005).The area under the curve,sensitivity,specificity and accuracy of the model for diagnosing SHPT and predicting surgical treatment with iPTH levels of 300 pg/ml and 800 pg/ml were 0.967,95.00%,100.00%,97.73%and 0.824,77.42%,71.43%and 90.00%,respectively.Conclusion Dialysis age,phosphorus,alkaline phosphatase and SWVratio are independent influencing factors of iPTH level,and the clinical-ultrasound parameter model is of great value in accurately assessing the severity of SHPT.
9.Clinical features of hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma: a multi-center real-world retrospective study
Yunze XU ; Wen KONG ; Ming CAO ; Guangxi SUN ; Jinge ZHAO ; Songyang LIU ; Zhiling ZHANG ; Liru HE ; Xiaoqun YANG ; Haizhou ZHANG ; Lieyu XU ; Yanfei YU ; Hang WANG ; Honggang QI ; Tianyuan XU ; Bo YANG ; Yichu YUAN ; Dongning CHEN ; Dengqiang LIN ; Fangjian ZHOU ; Qiang WEI ; Wei XUE ; Xin MA ; Pei DONG ; Hao ZENG ; Jin ZHANG
Chinese Journal of Urology 2024;45(3):161-167
Objective:To investigate the clinical features and therapeutic efficacy of patients with hereditary leiomyomatosis and renal cell carcinoma(RCC) syndrome-associated RCC (HLRCC-RCC) in China.Methods:The clinical data of 119 HLRCC-RCC patients with fumarate hydratase (FH) germline mutation confirmed by genetic diagnosis from 15 medical centers nationwide from January 2008 to December 2021 were retrospectively analyzed. Among them, 73 were male and 46 were female. The median age was 38(13, 74) years. The median tumor diameter was 6.5 (1.0, 20.5) cm. There were 38 cases (31.9%) in stage Ⅰ-Ⅱand 81 cases (68.1%) in stage Ⅲ-Ⅳ. In this group, only 11 of 119 HLRCC-RCC patients presented with skin smooth muscle tumors, and 44 of 46 female HLRCC-RCC patients had a history of uterine fibroids. The pathological characteristics, treatment methods, prognosis and survival of the patients were summarized.Results:A total of 86 patients underwent surgical treatment, including 70 cases of radical nephrectomy, 5 cases of partial nephrectomy, and 11 cases of reductive nephrectomy. The other 33 patients with newly diagnosed metastasis underwent renal puncture biopsy. The results of genetic testing showed that 94 patients had FH gene point mutation, 18 had FH gene insertion/deletion mutation, 4 had FH gene splicing mutation, 2 had FH gene large fragment deletion and 1 had FH gene copy number mutation. Immunohistochemical staining showed strong 2-succinocysteine (2-SC) positive and FH negative in 113 patients. A total of 102 patients received systematic treatment, including 44 newly diagnosed patients with metastasis and 58 patients with postoperative metastasis. Among them, 33 patients were treated with tyrosine kinase inhibitor (TKI) combined with immune checkpoint inhibitor (ICI), 8 patients were treated with bevacizumab combined with erlotinib, and 61 patients were treated with TKI monotherapy. Survival analysis showed that the median progression-free survival (PFS) of TKI combined with ICI was 18 (5, 38) months, and the median overall survival (OS) was not reached. The median PFS and OS were 12 (5, 14) months and 30 (10, 32) months in the bevacizumab combined with erlotinib treatment group, respectively. The median PFS and OS were 10 (3, 64) months and 44 (10, 74) months in the TKI monotherapy group, respectively. PFS ( P=0.009) and OS ( P=0.006) in TKI combined with ICI group were better than those in bevacizumab combined with erlotinib group. The median PFS ( P=0.003) and median OS ( P=0.028) in TKI combined with ICI group were better than those in TKI monotherapy group. Conclusions:HLRCC-RCC is rare but has a high degree of malignancy, poor prognosis and familial genetic characteristics. Immunohistochemical staining with strong positive 2-SC and negative FH can provide an important basis for clinical diagnosis. Genetic detection of FH gene germ line mutation can confirm the diagnosis. The preliminary study results confirmed that TKI combined with ICI had a good clinical effect, but it needs to be confirmed by the results of a large sample multi-center randomized controlled clinical study.
10.Single-cell Sequencing Reveals Clearance of Blastula Chromosomal Mosaicism in In Vitro Fertilization Babies
Gao YUAN ; Zhang JINNING ; Liu ZHENYU ; Qi SHUYUE ; Guo XINMENG ; Wang HUI ; Cheng YANFEI ; Tian SHUANG ; Ma MINYUE ; Peng HONGMEI ; Wen LU ; Tang FUCHOU ; Yao YUANQING
Genomics, Proteomics & Bioinformatics 2022;(6):1224-1231
Although chromosomal mosaic embryos detected by trophectoderm(TE)biopsy offer healthy embryos available for transfer,high-resolution postnatal karyotyping and chromosome testing of the transferred embryos are insufficient.Here,we applied single-cell multi-omics sequenc-ing for seven infants with blastula chromosomal mosaicism detected by TE biopsy.The chromo-some ploidy was examined by single-cell genome analysis,with the cellular identity being identified by single-cell transcriptome analysis.A total of 1616 peripheral leukocytes from seven infants with embryonic chromosomal mosaicism and three control ones with euploid TE biopsy were analyzed.A small number of blood cells showed copy number alterations(CNAs)on seem-ingly random locations at a frequency of 0%-2.5%per infant.However,none of the cells showed CNAs that were the same as those of the corresponding TE biopsies.The blastula chromosomal mosaicism may be fully self-corrected,probably through the selective loss of the aneuploid cells dur-ing development,and the transferred embryos can be born as euploid infants without mosaic CNAs corresponding to the TE biopsies.The results provide a new reference for the evaluations of trans-ferring chromosomal mosaic embryos in certain situations.

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