ObjectiveTo investigate the level of caregiver burden of primary caregivers of children with autism,and explore the factors related to caregiver burden.Methods 177 caregivers of children with autism were tested with caregiver burden inventory(CBI) and childhood autism rating scale(CARS).A cross-sectional and multisite study design was used.ResultsThe scores of caregiver burden was ( 57.50 ± 14.91 ),and time-dependence burden and developmental burden were the most serious domains.Caregiver burden was affected by caregiver's age,caregiver's religious beliefs,caregiver's marital status,caregiver employment status and education degree and children's scores of CARS and degree of CARS( -0.151 ≤ r ≤0.282,P＜ 0.05 ).ConclusionThe data suggest that community care workers should pay attention to caregivers of children with autism and give them personalized health education and intervention according to the demographic characteristics of the caregivers and the severity of children disease.

Objective To investigate the quality of life (QOL) of the primary caregivers of children with autism and find the influencing factors.Methods 163 caregivers of children with autism were assessed with short form 36 health survey questionnaire(SF-36) in Chinese,and the data were analyzed by correlation.Results The QOL of the caregivers was injured in many fields.The scores of the eight dimensions of SF-36 were listed respectively as:physical functioning (PF) 84.69 ± 16.39,role limitation due to physical health (RP) 28.87 ± 22.85,bodily pain (BP) 64.72 ± 21.85,general health perception (GH) 50.06 ± 21.80,vitality (VT) 42.79 ± 23.42,social functioning (SF) 52.76 ± 25.46,role limitations due to emotional problems (RE) 32.10 ± 22.27,mental health (MH) 46.17 ± 24.43.The QOL of the primary caregiver was closely related to the caregiver's age,educational level,the family economical situation and time of caring (P ＜ 0.01),and also related to the children's age,autism procedure (P＜0.05).There was no relationship betwecn the QOL and the children's gender,time of participating in rehabilitation training,whether the only child or not,type of medical expense,the caregiver's gender,nationality,marital status,religion,relation with the children,and the family residence.Conclusions The QOL of the primary caregivers of children with autism is affected seriously,and should be intervened accordingly.

Objective:To investigate the clinicopathological characteristics, histogenesis, immunophenotypes and molecular genetic features of primary intraosseous Rosai-Dorfman disease (RDD) for improving diagnostic accuracy and differential diagnosis.Methods:This retrospective study included 14 RDD cases diagnosed from January 2009 to January 2019 at Beijing Jishuitan Hospital, China. The immunohistochemical staining for S-100, cyclin D1, CD1a and CD207 expression was analyzed. The BRAF V600E and KRAS mutation analyses were performed using the Scorpions amplification refractory mutation system (ARMS) fluorescence quantitative PCR.Results:There were 6 female and 8 male patients, aged from 2 to 64 years (mean 31.4 years). All of the 14 cases occurred in the bone without lymph node disease, while one patient developed additional lesions within vertebra and nasal cavity. Radiographically, the lesions were lytic with sclerotic margins. Histologically, the lesions percolated through the medullary cavity in an infiltrative fashion and alternating hyper- and hypo-cellular regions of histiocytic clusters (seen as alternating dark and light zones at low magnification). Large histiocytes also showed emperipolesis. Some cases had areas of fibrosis and dense lymphoplasmacytic infiltrates. There were vasculitis and an increased number of plasma cells in the cases involving multiple sites. One case showed concurrence of RDD and Langerhans cell histiocytosis(LCH) with inconspicuous increase of Langerhans histiocytes. Immunohistochemical staining showed that the large histiocytes were positive for S-100, CD68 and CD163 in all cases. The nuclear immunoreactivity for cyclin D1 was observed in 13 of the 14 cases. S-100, CD1a and CD207 were positive in the case with concurrence of RDD and LCH. ARMS-PCR results showed that BRAF V600E mutation was observed in the cases with concurrence of RDD and LCH, while there were no KRAS mutations (7/7). Follow-up information was available for 12 patients and ranged from 9 to 49 months. Three of the 12 patients experienced recurrences after the first surgery.Conclusions:Primary intraosseous RDD is rare, and its concurrence with LCH is a very rare phenomenon. Its clinical symptoms, imaging, and pathological manifestations need to be distinguished from other bone lesions. The molecular detection of BRAF V600E and the nuclear expression of cyclin D1 mutations can be used for the diagnosis and differential diagnosis of RDD.

Objective:To observe the clinical effect of vacuum sealing drainage (VSD)combined with autologous free skin grafting in the treatment of multiple calf venous refractory ulcer.Methods:A total of 7 patients (16 lesions)with lower limb varicose vein complicated by multiple calf venous refractory ulcer,who underwent vascular surgery for treatment of the primary disease,received wound closure with VSD technology after debridement.And 7-10 days later,wound was repaired by VSD combined with autologous free skin graft based on patients'status.Results:The ulcers in 7 cases were all healed.Postoperative pressure bandaging was done with elastic bandage.There was no recurrence in six months'follow-up.Conclusions:For multiple calf venous chronic ulcer wound caused by varix of lower limb,the timely wound repair by VSD combined with autologous free skin graft and pressure bandaging after cure can improve the cure rate and decrease the recurrence rate.

Objective:To investigate the diagnostic value of detecting MDM2 gene amplification by fluorescence in situ hybridization (FISH) in low-grade osteosarcoma (LGOS).Methods:Thirty cases of parosteal osteosarcoma (POS) and 14 cases of low-grade central osteosarcoma (LGCOS) from April 2009 to August 2022 at Beijing Jishuitan Hospital, Capital Medical University were analyzed for the presence of MDM2 gene amplification by FISH. Fifty-eight additional cases were used as negative controls (including 28 cases of fibrous dysplasia, 5 cases of giant cell tumor, 4 cases of conventional osteosarcoma, 2 cases each of periosteal osteosarcoma, reparative changes after fracture, pleomorphic undifferentiated sarcoma, low grade myofibroblastic sarcoma, fibrous dysplasia with malignant transformation, one case each of leiomyosarcoma, sclerosing epithelioid fibrosarcoma, malignant peripheral nerve sheath tumor, desmoplastic fibroma of bone, solitary fibrous tumor, aneurysmal bone cyst, clear cell chondrosarcoma, osteofibrous dysplasia, and 3 cases of unclassified spindle cell tumor).Results:Among the 30 patients with POS, 15 were male and 15 were female, ranging in age from 10 to 59 years (mean 35 years, median 30.5 years). Among the 14 patients with LGCOS, four were male and 10 were female, ranging in age from 15 to 56 years (mean 37 years, median 36 years). All except one case were successfully detected by FISH. MDM2 gene amplification was detected in 27 cases of POS (27/29,91.3%) and 8 cases of LGCOS (8/14). All the negative controls were negative for MDM2 gene amplification. The positive rate of MDM2 gene amplification was significantly different between the case group and the control group ( P<0.05). The sensitivity and specificity of MDM2 gene amplification in diagnosing POS and LGCOS were 91.3% and 100.0%; and 57.1% and 100.0%, respectively. The sensitivity and specificity of MDM2 gene amplification in diagnosing LGOS (including POS and LGCOS) were 81.3% and 100.0%, respectively. In cases where MDM2 gene was amplified, the MDM2 amplified signal was clustered. Nine cases showed increased CEP12 signal different from polyploidy which was displayed as small and weak signal points or cloud flocculent and cluster signals. Conclusions:Detection of MDM2 gene amplification by FISH is a highly sensitive and specific marker for LGOS. The interpretation criteria for FISH detection of MDM2 amplification are currently not unified. The signal characteristics need more attention when interpreting.

Objective:To investigate the clinicopathological and genetic characteristics of neuromuscular choristoma-associated desmoid type fibromatosis (NMC-DF).Methods:The clinical morphological and immunohistochemical features of 7 NMC-DF cases diagnosed from January 2013 to January 2023 in Beijing Jishuitan Hospital were retrospectively analyzed. A series of neuromuscular choristoma and neuromuscular choristoma-associated desmoid type fibromatosis were evaluated for CTNNB1 mutations, and hotspot mutations for CTNNB1 were tested in 4 NMC-DF cases using Sanger sequencing.Results:The tumors were collected from 3 females and 4 males, aged 1 to 22 years (mean 7.1 years), involving the sciatic nerve ( n=4), brachial plexus ( n=2) or multiple nerves ( n=1). The course of the disease spanned from 3 months to 10 years. Two cases were recurrent tumors. All the 7 NMC cases showed endoneurial intercalation of mature skeletal muscle fibers among the peripheral nerve fascicles, and the histologic features of the NMC-DF were strikingly similar to the conventional desmoid-type fibromatosis. By immunohistochemistry, all NMC and NMC-DF cases showed aberrant nuclear staining of β-catenin (7/7), the muscle cells in NMC were intensely immunoreactive for desmin, and the admixed nerve fibers were highlighted by NF and S-100 (7/7). Four NMC and NMC-DF had CTNNB1 mutations, 3 c.121A>G (p.T41A) and 1 c.134C>T (p.S45F). Follow-up of the 7 cases, ranging from 22 to 78 months, showed tumor recurrence in 2 patients at 3 and 8 months respectively after the first surgical resection, of which 1 patient underwent above-knee amputation. No recurrence occurred in other cases with tumor excision and neurological reconstruction surgery. There was no metastasis occurred in the 7 cases. Conclusions:NMC is a rare congenital lesion with differentiated mature skeletal muscle tissue found in peripheral nerve fascicles, and approximately 80% of patients with NMC develop a soft tissue fibromatosis. CTNNB1 mutation in the Wnt signaling pathway may be involved in the pathogenesis of NMC and NMC-DF, and S45F mutations seems to have a higher risk of disease progression.

Objective To analyze the clinicopathological features of pseudotumor?like tissue around aseptic joint arthroplasty and aseptic lymphocytic vasculitis?associated lesions (ALVAL) scores. The characters of wear granules were observed. Methods Total 122 cases were retrieved from the surgical pathology files between May 2015 and August 2018 in the department of pathology in Beijing Jishuitan Hospital, which included the knee joint arthroplasty (10 cases) and hip arthroplasty (112 cases). There were 62 females and 60 males. Patients′age ranged from 29 to 86 years (mean 56 years). The pseudotumor?like tissue around aseptic joint arthroplasty were stained with HE and analyzed by two ALVAL score systems. The characters of wear granules were observed by light microscope and polarized light. Results The cohort included 62 females and 60 males. Patients′ age ranged from 29 to 86 years (mean 56 years). Compbell?ALVAL system includes synovial lining,inflammatory infiltrate and tissue organization. The scores were: low (0-4): 18cases; moderate (5-8): 101 cases; high (9-10): 3 cases. Oxford?ALVAL system only evaluated the inflammatory infiltrate,and the scores were:0 grade:56 cases; 1 grade:51 cases; 2 grade:12 cases; 3 grade:3 cases. Cases with high score in the Compbell?ALVAL system were concordant with the 3 grade of the Oxford?ALVAL system. Under light microscope,the metal particles were small black granules; the polyethylene fibers were needle?like and easily visible in polarized light. The polymethylmethacrylate showed clear spaces because of particle melting. Conclusions The Compbell?ALVAL scoring system is based on the histologic analysis of pseudotumor?like tissue around aseptic joint arthroplasty, and the Oxford?ALVAL scoring systems is based on lymphocytic response. The wear particles could be differentiated by the features in the light microscope.

Objective To observe the effects of Xinkang Granules-contained serum on the proliferation of cardiac fibroblasts(CFs)induced by angiotensin Ⅱ(Ang Ⅱ);To explore its mechanism of inhibiting the proliferation of CFs.Methods Taking out the heart of SD suckling rats,extracting the CFs from the hearts by differential attachment,and then they were used to replicate cell proliferation model induced by Ang Ⅱ.After transfection with miR-21 overexpressing lentivirus and growth arrest specific transcript 5(GAS5)silencing lentivirus,Xinkang Granules-contained serum was intervened for 24 hours,respectively.Cell viability was detected by cell CCK-8 method,cell cycle was detected by flow cytometry,α-smooth muscle actin(α-SMA)was detected by immunofluorescence,RT-qPCR was used to detect the mRNA expression of GAS5,miR-2l,phosphatase and tensin homolog(PTEN),Western blot was used to detect the expressions of PTEN,protein kinase B(Akt),Cyclin D1 and cyclin-dependent kinase 4(CDK4)protein.Results Compared with the blank group,the activity of CFs in the model group increased,the proportion of G0/G1 phase cells decreased,the proportion of S phase cells increased,the positive expression of α-SMA increased,the expressions of GAS5,PTEN mRNA and PTEN protein decreased,the expressions of miR-21 mRNA and Akt,Cyclin D1,CDK4 protein increased,with statistical significance(P<0.05).Compared with the model group,the activity of CFs in the Xinkang Granules group decreased,the proportion of G0/G1 phase cells increased,the proportion of S phase cells decreased,the positive expression of α-SMA decreased,the expressions of GAS5,PTEN mRNA and PTEN protein increased,while the expressions of miR-21 mRNA and Akt,Cyclin D1 and CDK4 protein decreased;The activity of CFs increased in the miR-21 overexpression group and the GAS5 silencing group,and the proportion of G0/G1 phase cells decreased,the proportion of S phase cells increased,and the positive expression of α-SMA increased,the expressions of GAS5,PTEN mRNA and PTEN protein decreased,while the expressions of miR-21 mRNA and Akt,Cyclin D1 and CDK4 protein increased,with statistical significance(P<0.05).Compared with the miR-21 overexpression group and the GAS5 silencing group,the miR-21 overexpression+Xinkang Granules group and the GAS5 silencing+Xinkang Granules group showed a decrease in CFs activity and an increase in the proportion of G0/G1 phase cells,the proportion of S phase cells decreased,the positive expression of α-SMA decreased,the expressions of GAS5,PTEN mRNA and PTEN protein increased,and the expressions of miR-21 mRNA and Akt,Cyclin D1,CDK4 protein decreased,with statistical significance(P<0.05).Conclusion Xinkang Granules-contained serum can inhibit the increase of miR-21 and Akt expression caused by silence GAS5,resist the decrease of GAS5 and PTEN caused by overexpress miR-21,inhibit the proliferation cycle of CFs,promote GAS5 to play the role of"molecular sponge",and improve the excessive proliferation of CFs induced by Ang Ⅱ.

Objective: To evaluate the role of histologicalpathology in the diagnosis of periprosthetic joint infection. Methods: A total of 145 cases of joint arthroplasty during October 2017 and October 2018 from Beijing Jishuitan Hospital were collected. There were 23 cases of infection, including knee joint arthroplasty (12 cases) and hip arthroplasty (11 cases). There were 17 females and 6 males. Patients′ age ranged from 39 to 76 years (mean 63 years). The infection was diagnosed if there were >5 neutrophils per high power field in at least 5 high power field. The permanent sections were examined twice separately by two pathologists, and the interval time of histologic examination was at least two weeks. Sensitivity (SE), specificity (SP), positive predictivevalue (PPV), and negative predictive value (NPV) were calculated. The consistency evaluation of histologic examination of two pathologists was calculated by Kappa analysis. Results: The neutrophil cells could locate scattered or focally in the synovium tissue of periprosthetic joint infection. Somewhere, the infiltration of vessel and the perivascular distribution could also exist. Opportunity coincidence rate between two pathologists was 91.3% (Kappa=0.817). The results showed that SE was 60.9%, SP was 100.0%, NPV was 93.1%, PPV was 100.0%. Conclusions The presence of polymorphonuclear cells in histologic examination is correlated with infection. There was high consistency between histologic examination and clinical diagnosis of joint arthroplasty.

Objective: To analyze the clinicopathological features of pseudotumor-like tissue around aseptic joint arthroplasty and aseptic lymphocytic vasculitis-associated lesions (ALVAL) scores. The characters of wear granules were observed. Methods: Total 122 cases were retrieved from the surgical pathology files between May 2015 and August 2018 in the department of pathology in Beijing Jishuitan Hospital, which included the knee joint arthroplasty (10 cases) and hip arthroplasty (112 cases). There were 62 females and 60 males. Patients′ age ranged from 29 to 86 years (mean 56 years). The pseudotumor-like tissue around aseptic joint arthroplasty were stained with HE and analyzed by two ALVAL score systems. The characters of wear granules were observed by light microscope and polarized light. Results: The cohort included 62 females and 60 males. Patients′ age ranged from 29 to 86 years (mean 56 years). Compbell-ALVAL system includes synovial lining,inflammatory infiltrate and tissue organization. The scores were: low (0-4): 18cases; moderate (5-8): 101 cases; high (9-10): 3 cases. Oxford-ALVAL system only evaluated the inflammatory infiltrate,and the scores were:0 grade:56 cases; 1 grade:51 cases; 2 grade: 12 cases; 3 grade:3 cases. Cases with high score in the Compbell-ALVAL system were concordant with the 3 grade of the Oxford-ALVAL system. Under light microscope,the metal particles were small black granules; the polyethylene fibers were needle-like and easily visible in polarized light. The polymethylmethacrylate showed clear spaces because of particle melting. Conclusions The Compbell-ALVAL scoring system is based on the histologic analysis of pseudotumor-like tissue around aseptic joint arthroplasty, and the Oxford-ALVAL scoring systems is based on lymphocytic response. The wear particles could be differentiated by the features in the light microscope.