Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare case caused by a mutation in the colony-stimu-lating factor 1 receptor ( CSF1R) gene on chromosome 5. In this paper, we report a case of a young female patient with HDLS, mainly characterized by memory loss, cognitive impairment, delayed movement, and abnormal mental and behavioral states. Genetic testing revealed a missense mutation in the CSF1R gene.

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare case caused by a mutation in the colony-stimu-lating factor 1 receptor ( CSF1R) gene on chromosome 5. In this paper, we report a case of a young female patient with HDLS, mainly characterized by memory loss, cognitive impairment, delayed movement, and abnormal mental and behavioral states. Genetic testing revealed a missense mutation in the CSF1R gene.

Objectives:the purpose of this study was to systematically evaluate the clinical value of cytokines in autoimmune diseases (AID). It was a kind of complex disease, and its pathogenesis involved cytokines, autoantibodies, immune cells and other immune factors. Especially some AID, such as Adult still′s disease (AOSD) and Takayasu arteritis(TA), had no specific biomarkers at present. This study was a retrospective case-control study.Methods:the data of tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6), interleukin-8(IL-8) and interleukin-10(IL-10) in 834 AID patients from January 2019 to August 2022 were collected, and the serum levels of those cytokines in 30 healthy controls (HC) were detected at the same time. And AOSD, TA, systemic lupus erythematosus (SLE) and Behcet′s syndrome (BS) were divided into active group and inactive group. In addition, we also made a subgroup analysis of two important organs involved in SLE (kidney and nervous system). GraphPad Prism 9 and R 4.2.2 software were used. Nonparametric tests (Kruskal-Wallis H test, Mann-Whitney U test) were used to compare the differences among groups, and Dunn′s method was used to correct the false positive caused by multiple tests. Results:To compare the level of IL-6 in each group, except Behcet syndrome (BS) group and antiphospholipid syndrome (APS) group, the serum IL-6 level of AID group was higher than that of HC group, with antineutrophil cytoplasmic antibodies associated vasculitis(AAV) [3.85(2.00,8.55) pg/ml], idiopathic inflammatory myopathies(IIM) [7.80(2.50,6.50)pg/ml], IgG4-related disease(IgG4RD) [3.65(2.08,12.83) pg/ml], rheumatoid arthritis (RA) [5.50(2.20,16.10) pg/ml], SLE[4.70(2.75,16.55) pg/ml], Sj?gren syndrome(SS) [3.20(2.00,8.90) pg/ml], systemic sclerosis(SSc) [2.70(2.00,8.90) pg/ml], TA[3.40 (2.00,6.50) pg/ml], other AID diseases[4.40(2.00,11.10) pg/ml], especially AOSD [15.20(2.10, 39.20) pg/ml]. After correction, the differences were statistically significant ( P c<0.05). At the same time, the levels of serum TNF-α [7.40(5.60,10.95) pg/ml]and IL-10 [5.00(5.00, 7.58) pg/ml] in AOSD group were significantly higher than those in HC group[7.15(5.93,8.00) pg/ml,5.00(5.00,5.00) pg/ml] after correction ( P c<0.05). At the same time, the levels of serum TNF-α and IL-10 in AOSD group were higher than those in HC group. The serum levels of IL-6 and IL-8 in patients with active AOSD, BS, SLE and TA were significantly higher than those in patients without active disease (all P<0.05). In addition, the level of serum IL-8 in lupus nephritis group was significantly higher than that in non-lupus nephritis group ( P<0.05). At the same time, the serum levels of IL-6, IL-8 and TNF-α in neuropsychiatric lupus erythematosus group were significantly higher than those in non-neuropsychiatric lupus erythematosus group ( P<0.05), but there was no significant difference in IL-10 between neuropsychiatric lupus group and non-neuropsychiatric lupus erythematosus group. Conclusions:there was a close relationship between AID and cytokines. At present, the change of serum IL-6 level was the most classic one in clinical routine.

Purpose: Knowing the distinction between benign and borderline/malignant phyllodes tumors (PTs) can help in the surgical treatment course. Herein, we investigated the value of magnetic resonance imaging-based texture analysis (MRI-TA) in differentiating between benign and borderline/malignant PTs. Methods: Forty-three women with 44 histologically proven PTs underwent breast MRI before surgery and were classified into benign (n = 26) and borderline/malignant groups (n = 18 [15 borderline, 3 malignant]). Clinical and routine MRI parameters (CRMP) and MRI-TA were used to distinguish benign from borderline/malignant PT. In total, 298 texture parameters were extracted from fat-suppression (FS) T2-weighted, FS unenhanced T1-weighted, and FS first-enhanced T1-weighted sequences. To evaluate the diagnostic performance, receiver operating characteristic curve analysis was performed for the K-nearest neighbor classifier trained with significantly different parameters of CRMP, MRI sequence-based TA, and the combination strategy. Results: Compared with benign PTs, borderline/malignant ones presented a higher local recurrence (p = 0.045); larger size (p < 0.001); different time-intensity curve pattern (p = 0.010); and higher frequency of strong lobulation (p = 0.024), septation enhancement (p = 0.048), cystic component (p = 0.023), and irregular cystic wall (p = 0.045). TA of FS T2-weighted images (0.86) showed a significantly higher area under the curve (AUC) than that of FS unenhanced T1-weighted (0.65, p = 0.010) or first-enhanced phase (0.72, p = 0.049) images. The texture parameters of FS T2-weighted sequences tended to have a higher AUC than CRMP (0.79, p = 0.404). Additionally, the combination strategy exhibited a similar AUC (0.89, p = 0.622) in comparison with the texture parameters of FS T2-weighted sequences. Conclusion MRI-TA demonstrated good predictive performance for breast PT pathological grading and could provide surgical planning guidance. Clinical data and routine MRI features were also valuable for grading PTs.

Objective To explore the relationship between the typing of MSCT and prognosis in infant with interstitial pneumonia (IP).Methods MSCT features of 44 infants with IP were analyzed retrospectively and classified according to the pathological pro-gress.The relationship between the MSCT typing and clinical prognosis was statistically analyzed.Results The result of the MSCT typing was as follows:the exudation in 22 cases,the proliferation in 18 cases and the ruin in 4 cases.There was significant difference for the clinical prognosis among the different MSCT groups (P＜0.01 ).And there was a significant correlation between the MSCT typing and clinical prognosis (r＝0.784,P＜0.01).The prognosis of the exudation type was better than the proliferation type,and both of them were better than the ruin type.Conclusion Based on the MSCT features,MSCT typing reveals the inflammatory patho-logical process of the infant IP,which plays an important role in treatment options decision and prognosis prediction.

Objectives To assess tyrosine kinase inhibitor (TKI) treatment status in patients with chronic myeloid leukemia (CML) in China and analyze the response-associated factors.Methods From May to November in 2014,anonymous questionnaires were distributed to adult CML patients who were receiving TKI treatment all over China.Results 1 038 questionnaires were collected,949 questionnaires were evaluable.Of the 949 evaluable respondents,549 (58％) were male with the median age of 41 years (range,18 to 88 years).623 (66％) respondents lived in an urban area and 449 (47％) had an education level ≥ a bachelor degree.888 (94％) respondents were in the chronic phase at diagnosis,and 690 (78％) of them started TKI treatment within one year after diagnosis.794 (84％) respondents were on imatinib,768 (81％) on the branded.With a median TKI treatment duration of 3 years (range,＜1 to 13 years),708 of 834 (85％) evaluable respondents achieved Ph-negative (i.e.complete cytogenetic response,CCyR),and 497 of 859 (46％) BCR-ABL negative (i.e.complete molecular response,CMR).Multivariate analyses showed that female (OR=l.8,95％ CI 1.1-2.8,P=0.019 and OR=l.5,95％CI 1.1-2.0,P=0.015),TKI treatment duration ＞3 years (OR=4.1,95％CI 2.6-6.5,P＜0.001 and OR=3.7,95％CI 2.7-5.1,P＜ 0.001) and imatinib taken (OR=2.1,95％CI 1.2-3.7,P=0.007 and OR=3.3,95％CI 2.1-5.1,P＜0.001) were factors affecting achieving both CCyR and CMR.In addition,higher education level (OR=2.0,95％CI 1.3-3.1,P=0.003),starting TKI treatment ＜1 year (OR=2.4,95％CI 1.5-3.8,P＜0.001) and branded drugs received (OR=2.4,95％ CI 1.4-4.0,P=0.001) were factors affecting achieving a CCyR.In 884 respondents,534 (62％) reported "heavy financial burden" as the biggest treatment impediment,only 152 (17％) reported "poor quality of life related to adverse effects of TKI".Conclusions The survey showed that majority of the Chinese CML patients received imatinib as a TKI therapy,and most of the patients achieved satisfied responses by TKI.Financial burden became the major obstacle during TKI treatment.

Objective:To observe the effect of orbital implant load angle on the stress distribution of peri-implant surface.Methods:The 3D finite element analysis model of orbital implant with diameter of 3.75 mm and length of 6 mm was established.A force of 20 N was applied on the model at various angles.The stress distribution and displacement of the implant were recorded and analyzed.Results:Under 0°,1 0°,20°,30°,45°and 90°the maximum stress(MPa)on the peri-implant surface was 3.1 73,6.535,1 0.506,1 4.1 68, 1 8.949 and 24.755,the maximum displacement(μm)of the implant was 1 .761 ,3.654,7.665,1 1 .567,1 6.774 and 25.072,respec-tively.Conclusion:The loading angle is an important factor influencing stress and displacement of peri-implant bone.