Objective:To investigate the clinical features and prognosis of male with anti-melanoma differentiation-associated gene 5 (MDA5) autoantibody.Methods:The clinical data of 246 patients with DM and anti-MDA5 autoantibodies hospitalized by Jiangsu Myositis Cooperation Group from 2017 to 2020 were collected and retrospectively analyzed. Chi-square test was performed to compared between counting data groups; Quantitative data were expressed by M ( Q1, Q3), and rank sum test was used for comparison between groups; Single factor survival analysis was performed by Kaplan-Meier method and Log rank test; Cox regression analysis were used for multivariate survival analysis. Results:①The male group had a higher proportion of rash at the sun exposure area [67.1%(47/70) vs 52.8%(93/176), χ2=4.18, P=0.041] and V-sign [50.0%(35/70) vs 30.7%(54/176), χ2=8.09, P=0.004] than the female group. The male group had higher levels of creatine kinase [112(18, 981)U/L vs 57 (13.6, 1 433)U/L, Z=-3.50, P<0.001] and ferritin [1 500 (166, 32 716)ng/ml vs 569 (18, 14 839)ng/ml, Z=-5.85, P<0.001] than the female group. The proportion of ILD [40.0%(28/70) vs 59.7%(105/176), χ2=7.82, P=0.020] patients and the red blood cell sedimentation rate[31.0(4.0, 101.5)mm/1 h vs 43.4(5.0, 126.5)mm/1 h, Z=-2.22, P=0.026] in the male group was lower than that of the female group, but the proportion of rapidly progressive interstitial lung disease (PR-ILD) [47.1%(33/70) vs 31.3%(55/176), χ2=5.51, P=0.019] was higher than that of the female group. ②In male patients with positive anti-MDA5 antibodies,the death group had a shorter course of disease[1.0(1.0, 3.0) month vs 2.5(0.5,84) month, Z=-3.07, P=0.002], the incidence of arthritis [16.7%(4/24) vs 42.2%(19/45), χ2=4.60, P=0.032] were low than those in survival group,while aspartate aminotransferase (AST)[64(22.1, 565)U/L vs 51(14,601)U/L, Z=-2.42, P=0.016], lactate dehydrogenase (LDH) [485(24,1 464)U/L vs 352(170, 1 213)U/L, Z=-3.38, P=0.001], C-reactive protein (CRP) [11.6(2.9, 61.7) mg/L vs 4.95(0.6, 86.4) mg/L, Z=-1.96, P=0.050], and ferritin levels [2 000(681, 7 676) vs 1 125 (166, 32 716)ng/ml, Z=-3.18, P=0.001] were higher than those in the survival group, and RP-ILD [95.8%(23/24) vs 22.2%(10/45), χ2=33.99, P<0.001] occurred at a significantly higher rate. ③Cox regression analysis indicated that the course of disease LDH level, and RP-ILD were related factors for the prognosis of male anti-MDA5 antibodies [ HR (95% CI)=0.203(0.077, 0.534), P=0.001; HR (95% CI)=1.002(1.001, 1.004), P=0.003; HR (95% CI)=95.674 (10.872, 841.904), P<0.001]. Conclusion:The clinical manifestations of male anti-MDA5 antibody-positive patients are different from those of female. The incidence of ILD is low, but the proportion of PR-ILD is high. The course of disease, serum LDH level, and RP-ILD are prognostic factors of male anti-MDA5 antibody-positive patients.

OBJECTIVES: To investigate the clinical phenotypes, genetic characteristics, and pathological features of children with disorders of sex development (DSD). METHODS: A retrospective analysis was conducted on epidemiological, clinical phenotype, chromosomal karyotype, gonadal pathology, and genotype data of 165 hospitalized children with DSD at Children's Hospital of Hebei Province and Tangshan Maternal and Child Health Hospital from August 2008 to December 2022. RESULTS: Among the 165 children with DSD, common presenting symptoms were short stature (62/165, 37.6%), clitoromegaly (33/165, 20.0%), cryptorchidism (28/165, 17.0%), hypospadias (24/165, 14.5%), and skin pigmentation abnormalities/exteriorized pigmented labia majora (19/165, 11.5%). Chromosomal karyotype analysis was performed on 127 cases, revealing 36 cases (28.3%) of 46,XX DSD, 34 cases (26.8%) of 46,XY DSD, and 57 cases (44.9%) of sex chromosome abnormalities. Among the sex chromosome abnormal karyotypes, the 45,X karyotype (11/57, 19%) and 45,X/other karyotype mosaicism (36/57, 63%) were more common. Sixteen children underwent histopathological biopsy of gonadal tissues, resulting in retrieval of 25 gonadal tissues. The gonadal tissue biopsies revealed 3 cases of testes, 3 cases of dysplastic testes, 6 cases of ovaries, 11 cases of ovotestes, and 1 case each of streak gonad and agenesis of gonads. Genetic testing identified pathogenic/likely pathogenic variants in 23 cases (23/36, 64%), including 12 cases of 21-hydroxylase deficiency congenital adrenal hyperplasia caused by CYP21A2 pathogenic variants. CONCLUSIONS Short stature, clitoromegaly, cryptorchidism, hypospadias, and skin pigmentation abnormalities are common phenotypes in children with DSD. 45,X/other karyotype mosaicism and CYP21A2 compound heterozygous variants are major etiological factors in children with DSD. The most commonly observed gonadal histopathology in children with DSD includes ovotestes, ovaries, and testes/dysgenetic testes.
Male ; Humans ; Child ; Disorders of Sex Development/pathology* ; Hypospadias/complications* ; Cryptorchidism/complications* ; Retrospective Studies ; Adrenal Hyperplasia, Congenital ; Steroid 21-Hydroxylase

Objective:To investigate the clinical efficacy and indications of arthrolysis plus Ilizarov technique in the treatment of traumatic fibrous stiffness of the knee.Methods:The clinical data were analyzed retrospectively of the 9 patients (10 knees) with traumatic fibrous stiffness who had been treated by arthrolysis plus Ilizarov technique from January 2012 to December 2020 at Department of Orthopaedics, Rehabilitation Hospital of National Research Center for Rehabilitation Technique Aids. There were 8 males and one female, aged from 15 to 42 years (average, 30.2 years). The left side was affected in 2 cases, the right side in 6 ones and bilateral sides in one. Their knee stiffness was all caused by injury around the knee. The time from injury to treatment ranged from 12 months to 38 years (average, 16.5 years). The admission examination revealed that the knee extension ranged from -40° to 0° and the knee flexion from -10° to 40°. Wearing time for the external fixator and incidence of complications were recorded; the ranges of knee motion were compared before and after treatment; the Qin Sihe criteria for postoperative limb deformity correction were used at the last follow-up to evaluate the curative efficacy.Results:The 9 patients were followed up for 20 to 78 months with an average of 35 months. The external fixators were worn for 14 to 200 days with an average of 78.4 days. During the traction period, pin tract reaction (3 holes) occurred in 2 patients with 3 knees, pin tract infection (2 holes) in 2 patients with 2 knees, the incision healed poorly in one patient, and no other complications occurred. The functional recovery of the knee was good at the last follow-up. The knee extension was 0°, insignificantly different from the preoperative value (-6.5°±12.9°) ( t=-1.591, P=0.146); the flexion angle was 70.0°±17.6°, significantly better than the preoperative value (15.0°±17.2°) ( t=-6.822, P< 0.001). According to the Qin Sihe postoperative criteria, the curative efficacy at the last follow-up was excellent in 7 knees and good in 3. Conclusion:In the treatment of traumatic fibrous stiffness of the knee, when the efficacy of simple arthrolysis is not good enough, a combination with Ilizarov technique can help improve the postoperative knee function and prevent severe complications.

Objective:To investigate surgical methods and clinical effects of tibial pseudarthrosis due to neurofibromatosis type I (NF1) in adult using Ilizarov technique combined with intramedullary nail.Methods:A total of 12 adult with tibial pseudarthrosis due to NF1 treated by Ilizarov technique combined with intramedullary nail from October 2009 to December 2017 were retrospectively included. There were 6 males and 6 females with an average age of 27±8.3 years (range 17-44). All cases presented severe anterior arch in varus or valgus deformity with shortening in an average of 10.8±3.7 cm (range 5.6-16.5 cm). The in-volved levels were at the middle and lower part of tibia. All cases suffered from more than one treatment with failed surgery. One male patient with 5 times of unsuccessful operations. There were 4 cases with severe limping gait and 8 cases with walking with the help of brace (or single crutch) preoperatively. Regarding the family history, seven cases were inherited by father and 5 cases by mother. During surgery, the part of tibial pseudarthrosis and thickened fibrous tissue surroundings like periosteal were removed. The contracture achilles tendon was elongated in open way, and intramedullary nailing cross the ankle joint was applied when the tibial medullary cavity opened. Further, iliac bone grafting and proximal tibial osteotomy were performed with Ilizarov fixator application finally. The tibia was lengthened at a rate of 0.5-1 mm/d at 7 days postoperatively. The healing rate of pseudarthrosis and the length and alignment of limb were evaluated by X-ray routinely. The lower limb function and complications were assessed by self-made table for lower limb deformity correction and functional reconstruction.Results:All patients were followed up for 31-80 months with an average of 47.6±14.7 months. Bone union of pseudarthrosis in all cases was eventually achieved. The tibia was lengthened 5-12 cm with an average of 8.4±2.5 cm. There were 9 cases underwent second surgeries to promote bone healing and to correct residual deformities. The external fixator was used for 25-37 months with an average of 31.5±3.7 months. There was no complication, including neurovascular injury, severe soft tissue or bone infection affecting the clinical effects. All intramedullary nails were not removed finally. The limb function and gait in full weight bearing in 12 patients recovered at the latest follow-up. The evaluation score was 2.4±0.3 (range 2.1-2.8), of which 9 cases were excellent 3 were good. Thus, the excellent and good rate was 100%.Conclusion:The satisfactory clinical effects, including angular deformity correction, pseudarthrosis healing and short limb lengthening, can be achieved in adult with tibial pseudarthrosis due to NF1 by using the combination method of Ilizarov technique and intramedullary nail. However, the treatment duration could be longer.

Multiple measurements of nocturnal penile tumescence and rigidity (NPTR) are widely accepted as a method to differentiate psychogenic erectile dysfunction (ED) from organic ED. However, direct evidence remains limited regarding the first-night effect on NPTR measurement using the RigiScan. Here, we evaluated the first-night effect on the results of NPTR measurement to validate the necessity of NPTR measurement for two consecutive nights, particularly when abnormal first-night measurements are recorded in a laboratory setting. We retrospectively reviewed 105 patients with a complaint of ED, who underwent NPTR measurement using the RigiScan in the Department of Infertility and Sexual Medicine, the Third Affiliated Hospital of Sun Yat-sen University (Guangzhou, China), for two consecutive nights, during the period from November 2015 to May 2016. NPTR parameters were collected and analyzed. We found that more effective nocturnal erections were detected during the second night than during the first night (P <0.001). Twenty percent of all patients had no effective erection during the first night, but exhibited at least one effective erection during the second night. The negative predictive value of NPTR measurement during the first night was 43.2%; this was significantly lower than that on the second night (84.2%; P = 0.003). Most NPTR parameters were better on the second night than on the first night. The first-night effect might be greater among patients younger than 40 years of age. In conclusion, two consecutive nightly measurements of NPTR can avoid a false-abnormal result caused by the first-night effect; moreover, these measurements more accurately reflect erectile capacity, especially when the first-night record is abnormal in a laboratory setting.
Adult ; Diagnosis, Differential ; Diagnostic Techniques, Urological ; Erectile Dysfunction/etiology* ; Humans ; Male ; Penile Erection ; Predictive Value of Tests ; Reproducibility of Results ; Retrospective Studies ; Sexual Dysfunction, Physiological/diagnosis* ; Sexual Dysfunctions, Psychological/diagnosis* ; Sleep ; Young Adult

Objective In order to meet the needs of maxillofacical bone defect repair, the aim of this study was to synthesize graphene oxide(GO) modified three-dimensional conneted nano- zirconia(ZrO₂) bone tissue engineering scaffold and evaluate its surface morphology, compressive strength and cytocompatibility. Methods GO was synthesized by a modified Hummers method and then was testified by scanning electron microscope, transmission electron microscopy and fourier transform infrared spectroscopy. ZrO₂ scaffold was modified by different concentrations(0.5,1.0,1.5mg/mL) of GO dispersion via a silane-mediated method. The composite scaffold with uniform GO coating was chosen for compressive strength test and co-cultured with human dental pulp stem cells(hDPSCs). Actin staining was used to observe the growth of the cells on the scaffold, and MTS was used to detect the cell activity. Results The characterization results showed that, under scanning electron microscope, the GO was flaky and the surface morphology of folds could be seen. Part of the GO layer folds up at the edge. Under transmission electron microscopy, the GO was clearly observed to have a gossylike, translucent and slightly wrinkled lamellar structure. The crystal structure in this area in the high-resolution filter image showed a six-member ring structure like graphite. Under high power electron microscope, the 1.0mg/ml GO-ZrO₂ scaffold could be seen to deposit a thin layer of GO at the crack of the scaffold skeleton, connecting the two ends of the crack, and lamellar GO with folds could be observed on the surface of ceramic particles. The comparison of mechanical properties showed that the compression strength of GO-ZrO₂ scaffold was sgnificantly increased compared with that of ZrO₂ scaffold[（1.292±0.087）vs（1.031±0.076）, P<0.05]. Compared with the simple ZrO₂ scaffold, the GO-ZrO₂ scaffold showed more dense extension and adhesion to the surface of scaffolds, showing more active cell proliferation. The cell viability test showed that the viability of hDPSCs was significantly improved on GO-ZrO₂ scaffold after 1, 3 and 5 days of proliferation compared with the simple ZrO₂ scaffold(P<0.05). Conclusion The ZrO₂ scaffold modified by GO improved compressive strength, promoted the early proliferation of hDPSCs with good cytocompatibility.

Objective: To explore the expression of CD45 in newly diagnosed multiple myeloma (MM) and its relationship with clinical efficacy and prognosis. Methods: This study retrospectively analyzed expression and distribution of CD45 in 130 cases of newly diagnosed MM, comparing clinical efficacy and prognosis in CD45⁺/CD45^- groups. Results: ①The CD45⁺ group was 33 cases (25.38%) , and CD45^- group was 97 cases (74.62%) . ②The objective remission rate (ORR) of CD45⁺ and CD45^-group was 33.33% and 64.95%, respectively. The difference was statistically significant (P=0.002) . For patients in Bortezomib regimen, the ORR of CD45⁺ and CD45^- group was 35.71% and 66.25%, respectively. The difference was statistically significant (P=0.005) . ③The median progress free survival (PFS) of CD45⁺ group and CD45^- group was 29.8 (95%CI 10.0-59.0) months vs 34.5 (95%CI 6.0-69.0) months (χ²=14.59, P<0.001) and the median overall survival (OS) was 32.5 (95%CI 10.0-68.0) months vs 37.6 (95%CI 6.0-78.0) months (χ²=11.42, P=0.001) , respectively. Among the patients in bortezomib regimen, The median PFS and median OS of CD45 ⁺ group and CD45^- group were 30.3 (95%CI 10.0-59.0) months vs 36.3 (95%CI 6.0-69.0) months (χ²=14.75, P=0.001) and 34.0 (95%CI 10.0-68.0) months vs 39.5 (95%CI 6.0-78.0) months (χ²=10.62, P=0.001) . ④Cox risk regression model analysis showed that serum creatinine≥176.8 μmol/L (HR=5.078, 95%CI 1.744-14.723, P=0.001) , CD45 positive (HR=14.504, 95%CI 0.168-0.42, P=0.001) , LDH≥220 IU/L (HR=1.308, 95%CI 1.16-2.417, P=0.015) were independent risk prognostic factors. Conclusion CD45 expression is a risk prognostic factor of MM patients. Bortezomib did not improve the poor prognosis of CD45⁺ MM patients.

Bortezomib/therapeutic use* ; CD56 Antigen ; Humans ; Multiple Myeloma ; Prognosis ; Proto-Oncogene Proteins c-kit

Objective: To explore the expression of CD45 in newly diagnosed multiple myeloma (MM) and its relationship with clinical efficacy and prognosis. Methods: This study retrospectively analyzed expression and distribution of CD45 in 130 cases of newly diagnosed MM, comparing clinical efficacy and prognosis in CD45(+)/CD45(-) groups. Results: ①The CD45(+) group was 33 cases (25.38%) , and CD45(-) group was 97 cases (74.62%) . ②The objective remission rate (ORR) of CD45(+) and CD45(-)group was 33.33% and 64.95%, respectively. The difference was statistically significant (P=0.002) . For patients in Bortezomib regimen, the ORR of CD45(+) and CD45(-) group was 35.71% and 66.25%, respectively. The difference was statistically significant (P=0.005) . ③The median progress free survival (PFS) of CD45(+) group and CD45(-) group was 29.8 (95%CI 10.0-59.0) months vs 34.5 (95%CI 6.0-69.0) months (χ(2)=14.59, P<0.001) and the median overall survival (OS) was 32.5 (95%CI 10.0-68.0) months vs 37.6 (95%CI 6.0-78.0) months (χ(2)=11.42, P=0.001) , respectively. Among the patients in bortezomib regimen, The median PFS and median OS of CD45 (+) group and CD45(-) group were 30.3 (95%CI 10.0-59.0) months vs 36.3 (95%CI 6.0-69.0) months (χ(2)=14.75, P=0.001) and 34.0 (95%CI 10.0-68.0) months vs 39.5 (95%CI 6.0-78.0) months (χ(2)=10.62, P=0.001) . ④Cox risk regression model analysis showed that serum creatinine≥176.8 μmol/L (HR=5.078, 95%CI 1.744-14.723, P=0.001) , CD45 positive (HR=14.504, 95%CI 0.168-0.42, P=0.001) , LDH≥220 IU/L (HR=1.308, 95%CI 1.16-2.417, P=0.015) were independent risk prognostic factors. Conclusion: CD45 expression is a risk prognostic factor of MM patients. Bortezomib did not improve the poor prognosis of CD45(+) MM patients.
Antineoplastic Combined Chemotherapy Protocols ; Disease-Free Survival ; Humans ; Leukocyte Common Antigens/metabolism* ; Multiple Myeloma/diagnosis* ; Prognosis ; Retrospective Studies

Objective Head and neck cancer radiotherapy patients often appear a series of oral complications including mucositis, xerostomia, pain, dysphagia.The purpose of this study was to investigate whether personalization customized positioning oral stent was able to push normal tissue off the high dose target area and maintain accurate repeatable stable positions, thus protecting the normal tissue during radiotherapy of the nasopharyngeal carcinoma patients.Methods 15 newly diagnosed nasopharyngeal carcinoma patients were collected from March to August 2016 in Department of Radiation Oncology, Nanjing General Hospital of Nanjing Military Region and randomly divided into trial group and control group.Two groups of patients were treated with intensity modulated radiation therapy (IMRT).Trial group patients wear personalization customized oral positioning stents during radiotherapy while the control group did not wear.After radiotherapy, we compared the exposure doses of clinical target area(CTV) and normal oral tissue in two groups.ResultsThe left parotid gland radiotherapy doses of the trail group and the control group were 2223.557±294.549 cGy and 2900.563±374.660 cGy, the difference was statistically significant(t=3.847, P=0.002);the right parotid gland radiotherapy doses of the trail group and control group were 2284.957±256.673 cGy and 2994.670±339.264 cGy, the difference was statistically significant(t=4.512, P=0.001).The mean exposure doses of CTV in two groups were no statistically significant difference (6142.829±135.986 cGy vs 173.306±6221.825 cGy, t=0.971, P=0.349.Conclusion During the intensity modulated radiation therapy, patients with personalization customized oral positioning stents can keep the mandible in a precise repeatable stable position.And it can reduce the exposure dose of bilateral parotid without affect the radiotherapy effect of the clinical target area.