Ankylosing spondylitis is a chronic immunoinflammatory disease that mainly affects the spine and the sacroiliac joint， the mechanism of which is closely related to signaling pathways， such as osteoprotegerin （OPG）/receptor activator of nuclear factor-κB （RANK）/RANK ligand， mitogen-activated protein kinase （MAPK）， Wnt/β-catenin （β-catenin）， phosphoinositide 3- kinase/protein kinase B/mammalian target of rapamycin （PI3K/Akt/mTOR）. Traditional Chinese medicine has the characteristics of multiple components and targets， and is widely used for the treatment of autoimmune diseases due to its low toxicity， strong specificity， and high efficacy. This review found that monomers and compounds of traditional Chinese medicine can exert anti ankylosing spondylitis effects by intervening in the aforementioned signaling pathways， regulating immune inflammatory responses， and inhibiting biological processes such as bone destruction， ectopic osteogenic differentiation， cell apoptosis， and autophagy.

Objective:To report on a case of Kabuki syndrome (KS) due to a novel variant of KMT2D gene. Methods:A child diagnosed with KS at the Fujian Children′s Hospital on July 25, 2022 was selected as the study subject. Whole exome sequencing was carried out for the child and her parents. Candidate variant was validated by Sanger sequencing and bioinformatic analysis.Results:The child, a 4-month-old female, had presented with distinctive facial features, growth retardation, cardiac malformations, horseshoe kidney, hypothyroidism, and recurrent aspiration pneumonia. Whole exome sequencing revealed that she has harbored a heterozygous c. 6285dup (p.Lys2096Ter) variant of the KMT2D gene. Sanger sequencing confirmed that neither of her parents had carried the same variant. The variant was previously unreported, and may result in a truncated protein and loss of an enzymatic activity region. The corresponding site of the variant is highly conserved. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+ PS2+ PM2_Supporting). Conclusion:The c. 6285 dup variant of the KMT2D gene probably underlay the KS in this child.

Objective·To establish various in vitro screening systems for the discovery of peptide inhibitors targeting the interaction between small ubiquitin-like modifier(SUMO)-activating enzyme subunit 1(SAE1)and subunit 2(SAE2),as well as to evaluate their advantages,disadvantages,and applicability to this research.Methods·The DNA fragments encoding human SAE1 and SAE2 were cloned into vector pET-28a,respectively,to generate protein SAE1 and SAE2.Purified proteins were used to establish screening assays,including isothermal calorimetry(ITC),fluorescence polarization(FP),surface plasmon resonance(SPR)and a fluorescence assay based on the SAE enzyme activity.The inhibitory activity of peptide candidates in different screening systems was examined,and their performance in terms of sensitivity,robustness,throughput and cost was evaluated.Results·The dissociation constant(Kd)of in vitro SAE1 and SAE2 interaction was determined to be 0.96 μmol/L by ITC,and PEPT7 was identified as the most potent peptide.However,the tracer of FP,which was derived from PEPT7,was not up to snuff due to its low affinity with SAE2.In the SPR assay,the Kd value(=1.13 μmol/L)of SAE1 and SAE2 interaction was in line with the results from ITC.The SAE enzyme activity-based screening assay revealed that HP1B,the most effective peptide,inhibited SAE with an half-maximal inhibitory concentration(IC50)of 15.72 μmol/L.The affinity of HP1B for SAE1 was determined to be 34.4 μmol/L by SPR.Conclusion·Several common screening systems for protein-protein interation(PPI)inhibitors are established and compared.Among them,ITC does not allow for high-throughput screening and it is difficult to accurately evaluate the low-affinity polypeptides with insignificant binding heat.The feasibility of FP relies heavily on the strong affinity between a tracer peptide and the protein target,making it unsuitable for the screening and optimization of low-affinity peptides.SPR is highly sensitive but the cost is high.The SAE enzyme activity-based assay stands out because it is a combination of high sensitivity,robustness,throughput and acceptable cost.

OBJECTIVETo compare the image quality of isotropic 3-dimensional fast spin echo (3D-FSE), 3D fast field echo (3D-FFE), and 2D fast spin echo (2D-FSE) sequences in magnetic resonance imaging (MRI) of the anatomical structure of the ankle joint.

METHODSThe ankle joints of 10 healthy volunteers were examined with isotropic 3D-FSE, 3D-FFE and 2D-FSE sequences using a 1.5T MR scanner and 3D reconstruction. The signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) of the tissues were measured. Two radiologists evaluated the image quality of the 3 sequences using a 5-point Likert scale in a double-blinded manner.

RESULTSThe 3D-FSE sequences resulted in the highest SNRs for all the tissues and the highest CNRs for differentiation between cartilage and marrow, between muscle and tendon, and between tendon and fluid. In the estimation of image quality for cartilages, 3D-FFE had the highest score followed by 3D-FSE, and the latter had the highest score among the 3 sequences in displaying the tendon.

CONCLUSION3D-FSE sequence has a high performance in displaying the anatomical structures of complex joints especially for cartilage, ligament, and tendon tissues.

Ankle Joint ; anatomy & histology ; Humans ; Imaging, Three-Dimensional ; Magnetic Resonance Imaging

PurposeTo investigate the physical characteristics of the lumbar bone marrow fat content by analyzing the correlation of the lumbar bone marrow fat content with age, gender, body mass index (BMI) and waist circumference. It may be helpful to deepen the understanding the occurrence regularity of osteoporosis. Materials and Methods A total of 144 subjects were recruited including both healthy volunteers and the patients with chronic low back pain. The height, weight and waist circumference were measured, and the body mass index was calculated. All the subjects took spectroscopy sequence at the third lumber vertebra with single-voxel point resolved spectroscopy (PRESS) method. Lipid (1.3 ppm) to water (4.67 ppm) ratio (LWR) and lipid fractions (FF%) were measured. LWR and FF% of L3 were compared among the patients with different gender, age, BMI and waist circumference. The correlation of LWR and FF% of L3 and age were analyzed.Results The LWR and FF% of L3 showed no signiifcant difference between the male and female (t=-0.267 and-0.993,P>0.05). There was statistical difference of LWR and FF% among the different age groups (F=3.723 and 5.478,P<0.05). LWR and FF% of female in 61-70 year-old group showed signiifcant higher than that in 20-30, 31-40, 41-50 and 51-60 year-old group (P<0.05). FF% of L3 in 20-30 year-old female group showed signiifcant lower than that in >70 year-old group (P<0.05). LWR of L3 for both male and female in 60-70 year-old group also showed signiifcant higher than that in 20-30, 31-40, 41-50 and 51-60 year-old group (P<0.05). FF% for both male and female in 20-30 year-old group showed signiifcant lower than that in 31-40, 41-50, 51-60, 61-70 and>70 year-old group (P<0.05). FF% of 61-70 year-old group was signiifcant different from that in 31-40, 41-50, 51-60 year-old group (P<0.05). The LWR and FF% of L3 showed no signiifcant difference between the different BMI groups and waist circumference groups (P>0.05). Age was positive correlated with FF% of L3 (r=0.321,P<0.05).Conclusion The lumbar bone marrow fat content is correlated with age, but is not correlated with gender, BMI and waist circumference.

Objective To compare the value of assessment with DWI and contrast-enhanced MRI (CE-MRI) in activity of sacroiliitis of patients with ankylosing spondylitis(AS).Methods Ninety-six patients conforming to modified New York criteria were prospectively collectedas the AS group, and twenty-one healthy volunteers were enrolled into the control group. According to the Bath AS disease activity index (BASDAI), erythrocyte sedimentation rate and C-reaction protein, AS patients were divided into the active AS group (n=60) and the chronic AS group (n=36) . All subjects were performed with conventional MRI, DWI and CE-MRI of bilateral sacroiliac joints. The MRI manifestations were reviewed and the ADC values and signal intensity enhancement rate (ΔSI) were measured.ANOVA was performed for the comparison ofΔSI and ADC values among active AS group, chronic AS group and control group with BASDAI and lab test results as the gold standards. ROC was analyzed with ΔSI and ADC values for activity of AS and paired
samples t test was obtained to comparethe areas under the ROC ofΔSI and ADC values.Results Among 96 cases of AS patients, MRI of sacroiliac jointsshowed that 62 cases had subchondral bone edema (57 cases of active group, 5 cases of chronic group), that 11 cases had bone surface erosion(4 cases of active group, 7 cases of chronic group), that 15 cases had bone sclerosis(6 cases of active group, 9 cases of chronic group) and that 58 cases had fat deposition on the sacroiliac joints (27 cases of active group, 31 cases of chronic group). The ΔSI values of the active group, the chronic group and control group were respectively (2.51 ± 1.69)%,(1.19 ± 0.67)%and(0.75 ± 0.21)%, and the ADCvalues were(1.33 ± 0.33)× 10-3,(1.00 ± 0.43)× 10-3 and(0.38±0.13)×10-3mm2/s. There were significant differences forΔSI and ADC values among three groups (F=18.375, 16.366. P<0.01), and statistical significance ofΔSI and ADC values were found between every two groups of three(P< 0.05).The area under the ROC between ΔSI and ADC to determine activity of AS patients were respectively 0.814 and 0.730, which had nostatistical significance(t=1.632, P=0.103). The sensitivity and specificity to determine activity of AS patients byΔSI=1.44%were 81.67%and 80.00%.The sensitivity and specificity to determine activity of AS patients by ADC=1.15 × 10-3/mm2 were 76.67% and 71.43%.Conclusion DWI and CE-MRI performed equally in detecting activity of AS patients.

Objective To compare the image quality of isotropic 3-dimensional fast spin echo (3D-FSE), 3D fast field echo (3D-FFE), and 2D fast spin echo (2D-FSE) sequences in magnetic resonance imaging (MRI) of the anatomical structure of the ankle joint. Methods The ankle joints of 10 healthy volunteers were examined with isotropic 3D-FSE, 3D-FFE and 2D-FSE sequences using a 1.5T MR scanner and 3D reconstruction. The signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) of the tissues were measured. Two radiologists evaluated the image quality of the 3 sequences using a 5-point Likert scale in a double-blinded manner. Results The 3D-FSE sequences resulted in the highest SNRs for all the tissues and the highest CNRs for differentiation between cartilage and marrow, between muscle and tendon, and between tendon and fluid. In the estimation of image quality for cartilages, 3D-FFE had the highest score followed by 3D-FSE, and the latter had the highest score among the 3 sequences in displaying the tendon. Conclusion 3D-FSE sequence has a high performance in displaying the anatomical structures of complex joints especially for cartilage, ligament, and tendon tissues.

Objective To compare the image quality of isotropic 3-dimensional fast spin echo (3D-FSE), 3D fast field echo (3D-FFE), and 2D fast spin echo (2D-FSE) sequences in magnetic resonance imaging (MRI) of the anatomical structure of the ankle joint. Methods The ankle joints of 10 healthy volunteers were examined with isotropic 3D-FSE, 3D-FFE and 2D-FSE sequences using a 1.5T MR scanner and 3D reconstruction. The signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) of the tissues were measured. Two radiologists evaluated the image quality of the 3 sequences using a 5-point Likert scale in a double-blinded manner. Results The 3D-FSE sequences resulted in the highest SNRs for all the tissues and the highest CNRs for differentiation between cartilage and marrow, between muscle and tendon, and between tendon and fluid. In the estimation of image quality for cartilages, 3D-FFE had the highest score followed by 3D-FSE, and the latter had the highest score among the 3 sequences in displaying the tendon. Conclusion 3D-FSE sequence has a high performance in displaying the anatomical structures of complex joints especially for cartilage, ligament, and tendon tissues.

OBJECTIVETo evaluate the diagnostic value of pelvis bone marrow fat depositions (BMFD) displayed by magnetic resonance imaging (MRI) in patients with ankylosing spondylitis (AS).

METHODSEighty-eight subjects undergoing pelvic MRI examinations were enrolled in this study, including 44 with clinically confirmed AS (39 male and 5 female patients with a mean age of 26.41∓8.09 years) and 44 control subjects without AS (37 male and 7 female subjects with a mean age of 29.32∓7.31 years). The incidence of BMFD in the bilateral sacroiliac (SI) joints and acetabulum were compared between the two groups. The distribution features of BMFD of the periarticular cancellous bone marrow in the pelvis and in other regions of the pelvis were analyzed for the AS patients, and the incidence of BMFD was determined in different stages of sacroiliitis and hip arthritis.

RESULTSThe incidence of BMFD in the SI joints and acetabulum was significantly higher in the AS patients than in the control subjects (P<0.01); The incidence of BMFD was significantly higher in the periarticular cancellous bone marrow than in the other positions of pelvis (P<0.01). The incidence of BMFD ranged from 40.0% to 45.9% in early stages of sacroiliitis, significantly lower than the incidence in later stages (58.3%-73.1%, P<0.01); the incidence showed no difference between different stages of hip arthritis (P>0.01).

CONCLUSIONSAS patients have a higher incidence of BMFD in the pelvis than control subjects. BMFD is distributed mainly under the articular surface, seen throughout the stages of AS, indicating that BMFD is an important pathological change of the bone marrow in AS to potentially allow early diagnosis of AS.

Adipose Tissue ; pathology ; Adolescent ; Adult ; Bone Marrow ; pathology ; Case-Control Studies ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Pelvis ; pathology ; Spondylitis, Ankylosing ; pathology ; Young Adult

Objective Ankylosing spondylitis (AS) can affect both the lumbar zygapophyseal joint and the centrum .This study was to compare multislice spiral CT ( MSCT) and MRI in the diagnosis of zygapophyseal joint lesions in AS patients and assess the role of zygapophyseal joint lesions in the early diagnosis of AS . Methods We retrospectively analyzed the lumbar imaging data of 41 male patients with AS .Forty-one male AS patients underwent MSCT , 18 receiving normal MRI , and the other 23 diffusion weighted imaging (DWI) and CE-T1WI-STIR in addition.Using Fisher′s Exact Test, we compared MSCT and MRI in their detection rates of a-pophyseal joint lesions and positive changes in the zygapophyseal joint and lumbar centrum .Then we analyzed the relation between the zygapophyseal joint lesions and the disease duration . Results The detection rates of zygapophyseal joint and centrum lesions were 90.2%and 58.5%on MSCT (P>0.05), and 80.5%and 46.3%on MRI (P>0.05), respectively.MSCT and MRI exhibited sig-nificant differences in the detection rate of centrum lesions (P<0.05) but not in that of zygapophyseal joint lesions (P>0.05). These lesions could appear within 1 year after the onset of AS or ahead of vertebral changes . Conclusion Both MSCT and MRI can manifest zygapophyseal joint lesions , which may develop in the lumbar spine at the early stage of AS , ahead of centrum lesions .This is important for the early diagnosis of AS .