[Objective]To present a case of complete androgen insensitivity syndrome (CAIS) coexisting with Müllerian duct remnants (MDR) and to review previous reports in the literature to enhance the understanding of the clinical manifestations and pathophysiology of CAIS.[Methods]The study aimed to diagnose complete androgen insensitivity syndrome (CAIS) by conducting physical examinations,chromosomal analysis,whole exome sequencing,laboratory tests including follicle-stimulating hormone (FSH),luteinizing hormone (LH),total testosterone,estradiol,anti-Müllerian hormone (AMH),inhibin B,dehydroepiandrosterone sulfate (DHEAS),androstenedione,17-hydroxyprogesterone,and imaging studies such as pelvic ultrasound and pelvic magnetic resonance imaging (MRI). Laparoscopy revealed the presence of Müllerian duct structures. Additionally,the study reviewed similar cases of CAIS combined with Müllerian duct remnants reported in the literature.[Results]The child presented with female phenotype,elevated levels of FSH,LH,and testosterone. Pelvic MRI showed bilateral cryptorchidism without visible uterus or fallopian tubes. The chromosomal karyotype was 46,XY,and whole exome sequencing identified a pathogenic variant in the androgen receptor (AR) gene,c.2359C>T (p.Arg787*). No abnormalities were found in the AMH and AMHR2 gene tests. Laparoscopic exploration revealed underdeveloped testes and an underdeveloped uterus. Pathology showed the presence of fallopian tube-like structures next to the testicles. A total of 11 cases with genetically confirmed diagnosis of CAIS coexisting with MDR were retrieved from the database. The findings suggest that the initial clinical presentation,biochemical data,and gonadal pathology of CAIS with MDR are similar to those without MDR.[Conclusion]The study reports a patient with CAIS coexisting with MDR,which broadens the clinical spectrum of CAIS and provides a perspective for basic research on Müllerian duct regression that is independent of the AMH-AMHR2 signaling pathway.

Objective:To study the regional distribution, temporal trend, and health inequity of burn incidence in the world from 1990 to 2019.Methods:The data related to burns worldwide from 1990 to 2019 were collected from the database of Global Burden of Disease (GBD). Based on the number of burn cases and age-standardized incidence rates, the incidence of burn was observed by age, region, socio-demographic index (SDI) area (divided into 5 categories of SDI areas: high, medium-high, medium, medium-low and low, the higher the area, the higher the degree of social development) and country, all of which were expressed as estimated values. Joinpoint regression analysis of the age-standardized incidence of burns from 1990 to 2019 was performed using Joinpoint 4.8.0.1 software to observe the average annual percentage change (AAPC). Rstudio software was used to analyze the Spearman correlation between the age-standardized incidence of burns and SDI from 1990 to 2019. The global inequities of burn incidence were evaluated using the slope index and concentration index from the health equity assessment toolkit, where the slope index reflected the absolute difference in burn incidence between countries with the lowest and highest SDI, and the concentration index indicated the degree to which burn incidence was concentrated in countries with low or high SDI.Results:From 1990 to 2019, the number of global burncases increased from 8 378 121.71 to 8 955 227.68, with an increase of 6.89%. However, the age-standardized incidence rate of burns showed an overall downward trend, from 149.86/100 000 in 1990 to 117.51/100 000 in 2019, with an AAPC of -0.80%. The incidence of burns in the population aged 10-19 years ranked the first in all age groups during the 30 years. Among the six regions of the world, the number of burn cases and the age-standardized incidence rate of burn in the Americas were the highest in 2019, but these two indexes were lower than those in 1999. In 2019, the number of burn patients in medium SDI areas was the highest, and the number of burn patients in low SDI areas was the lowest. The age-standardized incidence of burns was the highest in high SDI areas, and the lowest in medium-low SDI areas. From 1990 to 2019, the number of patients in high and medium-high SDI areas decreased, and the number of patients in other SDI areas increased. Compared with 1990, the age-standardized incidence rates of burns decreased in all SDI regions in 2019, with the greatest decline seen in high SDI and medium-high SDI regions. Cuba had the highest standardized incidence of burns, while Pakistan had the lowest. Spearman correlation analysis showed that from 1990 to 2019, the age-standardized incidence rates of burns in 204 countries and regions were positively correlated with SDI (all P<0.05), and the correlation coefficient decreased from 0.49 in 1990 to 0.37 in 2019. The health inequality slope index decreased from 212.90/100 000 in 1990 to 59.12/100 000 in 2019, and the concentration index decreased from 21.77% in 1990 to 8.38% in 2019. Conclusion:From 1990 to 2019, the global burn incidence rates are disproportionately concentrated in countries and regions with better development status. A significant reduction in the global burn incidence has been accompanied by a significant reduction in these inequities.

Objective To explore basement membrane markers and potential drugs for treatment in idiopathic pulmona-ry fibrosis(IPF).Methods IPF-related datasets were downloaded from the Gene Expression Omnibus(GEO)database,processed to construct basement membrane gene expression matrices associated with IPF,and screened for differential basement membrane genes(DEBMs);DEBMs were enriched for function and pathways,and machine learning algorithms were used to ob-tain candidate signature genes,receiver operating characteristic(ROC)curves were used to identify signature genes and con-struct a nomogram.We performed ssGSEA analysis to explore the correlation between signature genes and immune cells and their functions and predicted the corresponding miRNAs and therapeutic drugs by signature genes.Results A total of 56 DEBMs were extracted;enrichment analysis showed that DEBMs were mainly enriched in"extracellular matrix tissue","extracellular structural tissue",etc.,and were closely related to"ECM-receptor interaction"and"local adhesion spot"pathways.The ma-chine learning has identified six candidate signature genes(TIMP3,P3H2,ITGA7,ITGA4,ADAMTS2,COL8A2),all of which meet the requirements of the signature genes by the ROC curve test,and the nomogram diagnostic value was outstanding(AUC=0.991 523);B cells and Macrophages in IPF were significantly different from the normal group.Finally,miRNAs were predicted to be dominated by miR-4305,miR-3684,progesterone,and tert-butyl hydroperoxide as therapeutic agents with strong relevance to IPF.Conclusion Signature genes and predictive miRNAs may serve as novel markers for IPF diagnosis,and pre-dictive drugs may be a potential source of drugs for treating IPF.

Objective:To study the regional distribution, temporal trend, and health inequity of burn incidence in the world from 1990 to 2019.Methods:The data related to burns worldwide from 1990 to 2019 were collected from the database of Global Burden of Disease (GBD). Based on the number of burn cases and age-standardized incidence rates, the incidence of burn was observed by age, region, socio-demographic index (SDI) area (divided into 5 categories of SDI areas: high, medium-high, medium, medium-low and low, the higher the area, the higher the degree of social development) and country, all of which were expressed as estimated values. Joinpoint regression analysis of the age-standardized incidence of burns from 1990 to 2019 was performed using Joinpoint 4.8.0.1 software to observe the average annual percentage change (AAPC). Rstudio software was used to analyze the Spearman correlation between the age-standardized incidence of burns and SDI from 1990 to 2019. The global inequities of burn incidence were evaluated using the slope index and concentration index from the health equity assessment toolkit, where the slope index reflected the absolute difference in burn incidence between countries with the lowest and highest SDI, and the concentration index indicated the degree to which burn incidence was concentrated in countries with low or high SDI.Results:From 1990 to 2019, the number of global burncases increased from 8 378 121.71 to 8 955 227.68, with an increase of 6.89%. However, the age-standardized incidence rate of burns showed an overall downward trend, from 149.86/100 000 in 1990 to 117.51/100 000 in 2019, with an AAPC of -0.80%. The incidence of burns in the population aged 10-19 years ranked the first in all age groups during the 30 years. Among the six regions of the world, the number of burn cases and the age-standardized incidence rate of burn in the Americas were the highest in 2019, but these two indexes were lower than those in 1999. In 2019, the number of burn patients in medium SDI areas was the highest, and the number of burn patients in low SDI areas was the lowest. The age-standardized incidence of burns was the highest in high SDI areas, and the lowest in medium-low SDI areas. From 1990 to 2019, the number of patients in high and medium-high SDI areas decreased, and the number of patients in other SDI areas increased. Compared with 1990, the age-standardized incidence rates of burns decreased in all SDI regions in 2019, with the greatest decline seen in high SDI and medium-high SDI regions. Cuba had the highest standardized incidence of burns, while Pakistan had the lowest. Spearman correlation analysis showed that from 1990 to 2019, the age-standardized incidence rates of burns in 204 countries and regions were positively correlated with SDI (all P<0.05), and the correlation coefficient decreased from 0.49 in 1990 to 0.37 in 2019. The health inequality slope index decreased from 212.90/100 000 in 1990 to 59.12/100 000 in 2019, and the concentration index decreased from 21.77% in 1990 to 8.38% in 2019. Conclusion:From 1990 to 2019, the global burn incidence rates are disproportionately concentrated in countries and regions with better development status. A significant reduction in the global burn incidence has been accompanied by a significant reduction in these inequities.

Objective:To investigate the predictive value of postoperative C-reactive protein for serious complications after Da Vinci robotic surgical system radical gastrectomy of gastric cancer.Methods:The retrospective case-control study was conducted. The clinicopathological data of 298 patients with advanced gastric cancer who underwent Da Vinci robotic surgical system radical gastrectomy in the 940th Hospital of Joint Logistics Support Force of Chinese People's Liberation Army from January 2017 to June 2019 were collected. There were 253 males and 45 females, aged from 24 to 86 years, with a median age of 60 years. Of the 298 patients, 275 cases underwent no serious postoperative complications and 23 cases underwent serious postoperative complications. Observation indicators: (1) serious postoperative complications; (2) analysis of risk factors for serious postoperative complications after Da Vinci robotic surgical system radical gastrectomy of gastric cancer; (3) performance evaluation of the predictive indicators. Measurement data with skewed distribution were represented as M(range). Count data were described as absolute numbers and comparison between groups was conducted using the chi-square test or Fisher exact probability. Comparison of ordinal data was conducted using the rank sum test. Univariate analysis was conducted using the chi-square test. Multivariate analysis was conducted using Logistic regression model. The receiver operating characteristic curve was drawn and the area under curve (AUC) was used to compare and estimate the efficiency of diagnostic criteria. The value of Youden index was used to determine the optimal cut-off point. Results:(1) Serious postoperative complications: of the 298 patients, 23 cases underwent complications classified ≥grade Ⅲa of Clavien-Dindo classifica-tion, including 10 cases with grade Ⅲa complications, 7 cases with grade Ⅲb complications, 4 cases with grade Ⅳa complications, 1 case with grade Ⅳb complications and 1 case with grade Ⅴ complications. (2) Analysis of risk factors for serious postoperative complications after Da Vinci robotic surgical system radical gastrectomy of gastric cancer. Results of univariate analysis showed that operation time, indicators of C-reactive protein concentration and neutrophil count at post-operative day 1, and indicators of C-reactive protein concentration, white blood cells count, neutrophil count and platelet count at postoperative day 3 and pathological stage were related factors affecting serious complications for advanced gastric cancer after Da Vinci robotic surgical system radical gastrectomy ( χ2=7.671, 4.504, 5.045, 48.293, 9.575, 15.436, 13.731, 9.537, P<0.05). Results of multivariate analysis showed that the operation time ≥250 minutes, the concentration of C-reactive protein at postoperative day 3 ≥16.65 mg/dL, the neutrophil count at postoperative day 3 ≥8.167×10 9/L, the platelet count at postoperative day 3 ≥218×10 9/L and the pathological stage of tumor as stage Ⅱ and stage Ⅲ were independent risk factors affecting serious complications for advanced gastric cancer after Da Vinci robotic surgical system radical gastrectomy ( odds ratio=3.721, 16.084, 6.056, 6.893, 12.455, 95% confidence interval: 1.032-13.421, 4.657-55.547, 1.073-34.163, 1.798-26.423, 1.338-115.930, P<0.05). (3) Performance evaluation of the predictive indicators: the C-reactive protein concentration at postoperative day 3 was a high-performance predictor with the AUC as 0.851 (95% c onfidence interval: 0.780-0.921, P<0.05) and neutrophil count and platelet count at postoperative day 3 were low-performance predictors with the AUC as 0.659 and 0.666 (95% confidence interval: 0.570-0.748 and 0.581-0.750, P<0.05). Conclusion:The C-reactive protein concentration ≥16.65 mg/dL at postoperative day 3 is a high performance predictive indicator for serious complications after Da Vinci robotic surgical system radical gastrectomy of gastric cancer.

Objective:To investigate the effects and mechanisms of allogeneic epidermal stem cells (ESCs) on the survival of allogeneic full-thickness skin grafts in nude mice with full-thickness skin defect wounds.Methods:Experimental research methods were applied. Primary ESCs that appeared paving stone-like after being cultured for 7 d were obtained by enzymatic digestion method from one 4-week-old male BALB/c-NU nude mouse (the same strain, age, and sex below). The cells of third passage were identified by flow cytometry to positively express ESC marker CD44 and negatively express CD45, meanwhile, the positive expression of ESC markers of p63 and integrin 6α, and negative expression of CD71 were identified by immunofluorescence method. The ESCs of third passage in the logarithmic growth phase were used for the following experiments. Twenty-six nude mice were equally divided into phosphate buffered saline (PBS) group and ESCs group according to the random number table. A full-thickness skin defect wound was made on the back of each nude mouse, and then the wounds of the two groups were sprayed with equal volumes of PBS and ESCs, respectively. The wounds were transplanted with full-thickness skin grafts cut from the backs of 4 other nude mice. Each ten nude mice from the two groups were selected, the wound healing and skin survival on post surgery day (PSD) 0 (immediately), 3, 7, 14, and 21 were observed, and the survival ratio and shrinkage rate of skin grafts on PSD 3, 7, 14, and 21 were calculated (the number of sample was the number of surviving skin grafts at each time point); the blood perfusion in the skin grafts on PSD 3, 7, and 14 was detected by the laser speckle blood flow imager, and the blood flow ratio of nude mice skin grafts in ESCs group to PBS group at each time point was calculated (the number of sample was the pair number of surviving skin grafts in group pairing at each time point). The skin graft tissue of each 3 nude mice remained in the two groups were collected on PSD 7, and the mRNA expressions and protein expressions of tumor necrosis factor α (TNF-α), interleukin 8 (IL-8), IL-10, type Ⅰ collagen, type Ⅲ collagen, and matrix metalloproteinase 9 (MMP-9) in the tissue were detected by real-time fluorescent quantitative reverse transcription polymerase chain reaction and Western blotting, respectively. Data were statistically analyzed with Log-rank test, analysis of variance for repeated measurement, one-way analysis of variance, independent sample t test, and Bonferroni correction. Results:Taking the condition on PSD 0 as a reference, the wounds of nude mice in the two groups healed gradually on PSD 3, 7, 14, and 21, and the shrinkage of skin grafts was gradually obvious. Among them, the shrinkage healing of wound of nude mice in PBS group was more significant than that in ESCs group. On PSD 3, the skin graft of 1 nude mouse failed in ESCs group, while the skin graft of 3 nude mice failed in PBS group. On PSD 7, the skin graft of another nude mouse failed in PBS group. The survival ratio of skin grafts of nude mice in the two groups was similar on PSD 3, 7, 14, and 21 ( P>0.05). On PSD 3, 7, 14, and 21, the shrinkage rates of skin grafts of nude mice in ESCs group were (9.2±0.4)%, (19.7±1.2)%, (53.6±3.5)%, and (62.2±5.1)%, respectively, which was significantly lower than (11.0±0.9)%, (47.8±2.8)%, (86.1±7.1)%, and (89.7±9.0)% in PBS group ( t=5.719, 26.650, 11.940, 7.617, P<0.01). On PSD 3, 7, and 14, blood perfusion signals were observed in the skin grafts of nude mice in the two groups. The average blood perfusion ratios of the skin grafts of nude mice in ESCs group to PBS group were greater than 1, and there was no statistically significant difference in the overall comparison of 3 time points ( P>0.05). On PSD 7, compared with those of PBS group, the mRNA and protein expressions of TNF-α, IL-8, type Ⅰ collagen, and type Ⅲ collagen in the skin graft tissue of nude mice in ESCs group were significantly reduced, while the mRNA and protein expressions of IL-10 and MMP-9 in the skin graft tissue of nude mice in ESCs group were significantly increased (in mRNA comparison, t=2.823, 2.934, 2.845, 2.860, 3.877, 2.916, P<0.05). Conclusions:Allogeneic ESCs can reduce the shrinkage of allogeneic full-thickness skin grafts transplanted on full-thickness skin defect wounds in nude mice, promote the formation of new blood vessels between the skin graft and the wound, reduce inflammation and collagen protein expression, and promote the expression of MMP-9, thus improving the survival quality of skin grafts.

OBJECTIVE: To determine the nature and origin of aberrant chromosomes in a child with multiple anomalies and psychomotor retardation. METHODS: Routine G-banding was carried out to analyze the karyotypes of the patient and his parents, and next generation sequencing for copy number variations (CNV-seq) was used for the fine mapping of the aberrant chromosomal regions. RESULTS: The proband and his uncle exhibited psychomotor retardation, craniofacial malformation, infantile external genitalia, and concealed penis. Cytogenetic analysis indicated that the child has a 46,XYqh+,+(9),t(9;13)(q13;q12),pat,-13 karyotype. His uncle was XYqh+,+(9),t(9;13)(q13;q12)mat,-13, his father was 46,XYqh+,t(9;13)(q13;q12)mat, his grandmother was 46,XX,t(9;13)(q13;q12), and his grandfather was 46,XYqh+. The result of CNV-seq assay for the child was 46,XY,+9p(pter-p13.2,-40 Mb×3). No deletion was detected. CONCLUSION The partial trisomy 9 and partial monosomy 13 probably underlie the phenotypic abnormalities in the child. Combined chromosomal karyotyping and DNA sequencing can facilitate delineation of the nature and origin of the aberrant chromosomes.
Abnormalities, Multiple ; Child ; Chromosome Deletion ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 9 ; DNA Copy Number Variations ; Humans ; Karyotyping ; Male ; Monosomy ; Pedigree ; Translocation, Genetic ; Trisomy

Objective To discuss the clinical application value of 256-slice helical CT 3D-imaging in guiding interventional occlusion therapy for patent ductus arteriosus (PDA).Methods A total of 40 patients with sonography-proved PDA were randomly divided into group A (angiography group) and group B (CT-guided group) with 20 patients in each group.For the patients of group A,occlusion of PDA was performed based on the intraoperative angiography findings;and for the patients of group B,occlusion of PDA was carried out according to CT examination results.Intraoperative cardiac ultrasound monitoring was adopted and the curative effect was evaluated.Results The morphology of PDA demonstrated on CT 3Dimaging in group B was highly consistent with the configuration of PDA displayed on intraoperative angiography in group A.The most narrow diameters of PDA in group B and group A were (3.88±1.59) mm and (3.63±1.41) mm respectively,and the lengths of PDA in group B and group A were (6.1±1.06) mm and (6.82±0.74) mm respectively;the differences between the two groups were not statistically significant (P＞0.05).The time spent for surgery in group B and group A was (34.3±9.11) min and (17.33±5.81) min respectively,and the intraoperative X-ray radiation doses in group B and group A were (33.93±11.0) mGy and (66.48±9.77) mGy respectively;the differences between the two groups were statistically significant (P＜0.001).In group B,the preoperative X-ray radiation dose from CT examination was (119.79±29.45) mGy,when it was added to the intraoperative X-ray radiation dose the total cumulative radiation dose of group B was strikingly higher than that of group A.Conclusion Contrast-enhanced 256-slice helical CT scan and 3D-imaging technique can replace intraoperative angiography to get accurate anatomical imaging information of PDA,which are very helpful for the performance of interventional occlusion of PDA,meanwhile,it can effectively reduce the damage to the punctured artery and shorten the operation time.However,the radiation dose is a factor that should be taken into consideration.(J Intervent Radiol,2017,26:206-209)

Objective To investigate the application value of time-spatial labeling inversion pulse (T-SLIP) in renal corticomedullary differentiaton and the best black blood inversion time (BBTI) value.Methods Totally 60 volunteers were included,who underwent abdominal MR scan with noncontrast-enhanced SSFP sequence combined with T-SLIP.All subjects were scanned with different BBTI (800,1 000,1 200,1 400,1 600,1 800 ms) using coronary T-SLIP SSFP sequence.The images quality was evaluated using a four-point scale method.The region of renal cortex and medulla was devised automatically based on the image training algorithm.The signal intensity ratio with the different BBTI was calculated through measuring the signal intensity of the renal cortex and medulla.And the best BBTI values were analyzed.Results When BBTI was 1 200 ms,the image score was the highest.The signal intensity ratio (SIR) had statistical difference among different BBTI groups (all P＜0.05),when BBTI was 1 200 ms,the SIR was the highest,and the contrast between the renal cortex and medulla was obvious.Conclusion T-SLIP technology can improve the visibility of renal corticomedullary without contrast agents.The optimal BBTI for the best corticomedullary differentiation is 1 200 ms.

OBJECTIVE: To investigate the incidence, risk factors and prognosis for contrast-induced acute kidney injury (CI-AKI) according to ESUR and KDIGO criteria in patients undergoing angiography.
 METHODS: We evaluated 260 patients undergoing angiography and/or intervention therapy from April 2011 to January 2012 in the Second Xiangya Hospital of Central South University. All patients received low-osmolality contrast agent (ioversol). Serum creatinine was measured before angiography or at 48 or 72 h after procedure. The multivariate logistic regression was used to analyze the risk factors of CI-AKI. The major adverse events were observed in a year of follow-up.
 RESULTS: Among the 260 patients, 23 experienced CI-AKI and the incidence was 8.8% according to ESUR criteria. Twelve patients experienced CI-AKI and the incidence was 4.6% according to KDIGO criteria. The multivariate logistic regression analysis showed that diabetes mellitus and dehydration were the independent risk factors for CI-AKI according to ESUR criteria; In another KDIGO criteria, chronic kidney disease (CKD), hypercholesterolemia and diabetes mellitus were the independent risk factors for CI-AKI. The prognosis study showed that the mortality of patients with CI-AKI were significantly higher than those without CI-AKI (P<0.05).
 CONCLUSION The incidence of CI-AKI is associated with diagnostic criteria. Diabetes mellitus, CKD, dehydration and hypercholesterolemia were the independent risk factors for CI-AKI. CI-AKI is a relevant factor for mortality in a year after angiography and/or intervention therapy.
Acute Kidney Injury ; chemically induced ; diagnosis ; mortality ; Angiography ; Contrast Media ; adverse effects ; Dehydration ; epidemiology ; Diabetes Mellitus ; epidemiology ; Humans ; Incidence ; Iodopyracet ; adverse effects ; Logistic Models ; Prognosis ; Renal Insufficiency, Chronic ; epidemiology ; Risk Factors