Objective To investigate the clinical manifestations,molecular genetics and gonadal pathol-ogy characteristics of patients with disorders of sex development(DSD),and to summarize the clinical experi-ence of identifying rare diseases from common symptoms.Methods The clinical data of 416 patients with DSD diagnosed and treated in the multidisciplinary center of DSD of Guangzhou Women and Children's Medical Cen-ter from May 2018 to August 2023 were retrospectively analyzed,summarized and discussed.Results Accord-ing to chromosome karyotype,416 cases of DSD were classified into three types:92 cases(22.1％)of abnormal sex chromosome karyotype,285 cases(68.5％)of 46,XY karyotype and 39 cases(9.4％)of 46,XX karyotype.Among the 92 patients with abnormal sex chromosome karyotype,59 cases were raised as males,18 cases(30.5％)complained of short penis with hypospadias and cryptorchidism.The most common karyotype was 45,X/46,XY(58 cases,63.0％).Among the 285 patients with 46,XY karyotype,238 cases were raised as males,and 63 cases(26.5％)complained of short penis and hypospadias;47 cases were raised as females,and 13 ca-ses(27.7％)complained of inguinal mass.A total of 216 patients with 46,XY karyotype were subjected to whole exome gene detection,and 155 cases(71.8％)were found to have molecular pathogenesis with the clinical phe-notype.Among the 39 patients with 46,XX karyotype,19 cases were raised as males,and 8 cases(42.1％)com-plained of short penis and hypospadias.In the 18 cases of gonad biopsy,17 cases showed testicular tissue in go-nads.Whole exome sequencing was performed in 14 cases.NR5A1 gene heterozygous mutation,SRY gene muta-tion and SOX3 gene mutation were found in 2 cases,respectively(14.3％).Twenty cases were raised as females,and 14 cases(70.0％)complained of clitoral hypertrophy.Gonad biopsy was performed in 8 cases,with 7 cases of ovotestis(87.5％)and 1 case of NR5A1 gene heterozygous mutation(14.3％).Conclusions The etiologies of DSD are complex and diverse,and the clinical manifestations are various,which can be manifested as hypospa-dias,micropenis,cryptorchidism and other common symptoms of the urinary system.Different etiologies have dif-ferent treatment options.Therefore,chromosome karyotype,molecular genetic testing and gonadal pathology can be used to clarify the cause of disease,especially for rare diseases,improve the detection rate,reduce the rate of missed diagnosis,and ensure reasonable treatment,especially sex selection.

Hepatosteatosis is characterized by abnormal accumulation of triglycerides(TG),leading to prolonged and chronic inflammatory infiltration.To date,there is still a lack of effective and economical therapies for hepatosteatosis.Oridonin(ORI)is a major bioactive component extracted from the traditional Chinese medicinal herb Rabdosia rubescens.In this paper,we showed that ORI exerted significant protective ef-fects against hepatic steatosis,inflammation and fibrosis,which was dependent on LXRα signaling.It is reported that LXRα regulated lipid homeostasis between triglyceride(TG)and phosphatidylethanol-amine(PE)by promoting ATCL and EPT1 expression.Therefore,we implemented the lipidomic strategy and luciferase reporter assay to verify that ORI contributed to the homeostasis of lipids via the regulation of the ATGL gene associated with TG hydrolysis and the EPT1 gene related to PE synthesis in a LXRα-dependent manner,and the results showed the TG reduction and PE elevation.In detail,hepatic TG overload and lipotoxicity were reversed after ORI treatment by modulating the ATCL and EPT1 genes,respectively.Taken together,the data provide mechanistic insights to explain the bioactivity of ORI in attenuating TG accumulation and cytotoxicity and introduce exciting opportunities for developing novel natural activators of the LXRα-ATGL/EPT1 axis for pharmacologically treating hepatosteatosis and metabolic disorders.

Objective:To evaluate the value of enhanced CT radiomics feature model for predicting 5-year overall survival (OS) of esophageal squamous cell carcinoma patients after radiotherapy.Methods:Clinical data of 218 patients with esophageal squamous cell carcinoma treated with radical chemoradiotherapy in the Fourth Hospital of Hebei Medical University from July 2016 to December 2017 were retrospectively analyzed. Patients were randomly divided into the training group ( n=153) or a validation group ( n=65) at a 7 vs. 3 ratio. Enhanced CT radiomics features were extracted. The data in the training group was used to construct the prediction model, and the data in the validation group were utilized to validate the efficiency of this model for predicting the 5-year OS of patients. The predictive performance of this model was assessed by the receiver operating characteristic (ROC) curve, consistency index (C-index), and decision curve analysis (DCA). Results:The 1-, 3-, 5-year OS rates were 67.0%, 33.4%, 24.9%. Five radiomic features were selected from extracted features in the training group to construct the radiomic signature (RS) for predicting 5-year OS. The area under the ROC curve (AUC) was 0.760 in the training group and 0.707 in the validation group, and the C-index was 0.680 and 0.684, respectively. The radiomics nomogram, which incorporated the RS with clinical risk factors, were established to predict the 5-year OS of esophageal squamous cell carcinoma patients after radiotherapy. The AUC was 0.782 in the training group and 0.751 in the validation group, and the C-index was 0.708 and 0.688, respectively. According to the optimal cutoff of the model, all patients were divided into the high risk and low risk groups. The 1-, 3-, 5-year OS rates were 86.5%, 65.4%, 28.9% in the low risk group, and 58.4%, 17.8%, 5.9% in the high risk group, and the differences were statistically significant (all P<0.001). Similar conclusions were obtained in the validation group (all P<0.001). Conclusion:Enhanced CT radiomics features can be utilized to construct the prediction model for 5-year OS of esophageal squamous cell carcinoma patients after radiotherapy, which can be applied in clinical practice.

Objective:To explore the risk factors of early infection patients after heart transplantation(HT)and provide references for preventing and treating early infection.Methods:From April 2018 to May 2021, clinical data were retrospectively reviewed for 95 HT recipients treated at Zhengzhou Seventh People's Hospital.They were divided into two groups of infected(n=34)and uninfected(n=61). Gender, age, disease type, preoperative IABP implantation, postoperative intra-aortic balloon pump(IABP)implantation, postoperative extracorporeal membrane oxygenation(ECMO)implantation, preoperative mechanical ventilation, preoperative leukocyte, preoperative lymphocyte, preoperative serum C-reactive protein(CRP), operative approach, APACHEⅡscore, NYHA grade, hemoglobin, cardiopulmonary bypass time, donor heart cold ischemia time, postoperative thoracic drainage tube indwelling time, postoperative gastric tube indwelling time, postoperative urinary tube indwelling time, postoperative acute rejection, postoperative ventilator assisted treatment time and postoperative ICU time.The risk factors of early infection were analyzed by univariate and multivariate Logistic regression analysis.Results:There were 34 cases of early infection after HT and 8 cases died.In infection group, preoperative hemoglobin(female <110 g/L or male <120 g/L), ECMO post-operation, 24-48 h post-operation, APACHE post-operation(>6), postoperative intrathoracic drainage tube indwelling time(≥7 d), postoperative gastric tube indwelling time(≥4 d), postoperative urinary tube indwelling time(≥5 d), postoperative acute rejection(positive), postoperative ventilator assisted treatment time(≥2 d)and postoperative ICU time(≥10 d)were 18 cases(52.94%), 8(23.53%), 30(88.24%), 22(64.71%), 18(52.94%), 20(58.82%), 4(11.76%), 21(61.76%)and 19(55.88%); uninfected group: 16 cases(26.23%), 3(4.92%), 32(52.46%), 24(39.34%), 15(24.59%), 31(34.43%), 1(1.64%), 21(34.43%)and 4(6.56%). Significant inter-group differences existed( χ2=6.778, 5.68, 12.326, 5.623, 7.740, 5.297, 4.489, 6.615, 28.947, P<0.05). Multivariate Logistic regression analysis indicated that 24-48h post-operation, APACHEⅡ score >6(β=1.024, Wald χ2=7.653, OR=2.141, OR95% CI=1.323~4.215), ECMO post-operation(β=1.783, Wald χ2=6.186, OR=5.949, OR95% CI =1.459~24.25), postoperative intrathoracic drainage tube indwelling time ≥7 d(β=0.712, Wald χ2=5.745, OR=1.054, OR95% CI=1.183~6.753), postoperative gastric tube indwelling time(β=0.832, Wald χ2=6.756, OR=1.132, OR95% CI=1.416~8.406), postoperative ventilator assisted treatment time(β=0.745, Wald χ2=6.563, OR=1.212, OR95% CI=1.289~7.346)and postoperative ICU time=1.28(β=1.325, Wald χ2=9.752, OR=2.435, OR95% CI=1.426~6.354)were independent risk factor for early infection after HT( P<0.05). Conclusions:Early infection after HT remains higher.It is significantly correlated with 24-48 h post-operation APACHE II score, ECMO post-operation, postoperative intrathoracic drainage tube indwelling time, postoperative gastric tube indwelling time, postoperative ventilator assisted treatment time and postoperative ICU time.Targeted interventions should be adopted for lowering the incidence of early infection after HT.

The occurrence and persistent pandemic of 2019 coronavirus pneumonia (COVID-19), caused by the infection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has taken a big toll on global public health. The development of virus detection techniques and its application played an important role in health management, including screening, identification and treatment of patients, and slowing down the spread of virus. This review briefly summarizes the biological characteristics of SARS-CoV-2, and introduces in detail the SARS-CoV-2 detection techniques developed and used worldwide. Perspectives on the follow-up development of virus detection techniques were presented, with the aim to facilitate medical diagnosis, public health protection, disease prevention and control.
COVID-19/diagnosis* ; Humans ; Pandemics/prevention & control* ; SARS-CoV-2

Objective:To observe the effect of hyaluronidase injection into tendon sheath under muscle bone ultrasound guidance in the treatment of tenosynovitis of long head of biceps brachii.Methods:134 patients with tenosynovitis of the long head of biceps brachii treated in SSL Central Hospital of Dongguan from April 2019 to April 2020 were selected as the research objects. All patients were randomly divided into ordinary injection group and ultrasound-assisted injection group, 67 cases in each group. The general injection group was treated with intra-articular injection of hyaluronidase, and the ultrasound-assisted injection group was treated with intra-tendon sheath injection of hyaluronidase under the guidance of muscle and bone ultrasound. Visual Analog Scales (VAS) score, active flexion joint motion (AFROM), shoulder range of motion (ROM), functional score, flexion strength score, nuclear magnetic resonance imaging (MRI) and local tenosynovitis of the long head of biceps brachii (TLHBB)were measured to evaluate the clinical effect and postoperative complications after treatment.Results:There was no significant difference in gender, age, course of disease, periarthritis of shoulder and disuse atrophy of muscles around shoulder between ordinary injection group and ultrasound-assisted injection group ( P>0.05). After treatment, the AFROM, ROM, function score, forward flexion strength score, and middle wedge angle (MWA) of the two groups were significantly higher than those before treatment ( P<0.05), while the VAS score, humeral head diameter (HHD), biceps long head tendon diameter (BTD), and TLBBB were significantly lower than those before treatment ( P<0.05). The AFROM, ROM, function score, and forward flexion strength score, MWA of the ultrasound-assisted injection group were significantly higher than those of the ordinary injection group ( P<0.05), and the VAS score, HHD, BTD, and TLHBB were significantly lower than those of the ordinary injection group ( P<0.05). The total effective rate of the ultrasound-assisted injection group was higher than that of the ordinary injection group (97.01% vs 85.07%, P<0.05). Conclusions:Intra-tendon sheath hyaluronidase injection guided by ultrasound can effectively treat tenosynouitis of the long head of biceps brachii, relieve shoulder pain and improve shoulder motion.

Single-cell genomics provides substantial resources for dissecting cellular heterogeneity and cancer evolution. Unfortunately, classical DNA amplification-based methods have low throughput and introduce coverage bias during sample preamplification. We developed a single-cell DNA library preparation method without preamplification in nanolitre scale (scDPN) to address these issues. The method achieved a throughput of up to 1800 cells per run for copy number variation (CNV) detection. Also, our approach demonstrated a lower level of amplification bias and noise than the multiple displacement amplification (MDA) method and showed high sensitivity and accuracy for cell line and tumor tissue evaluation. We used this approach to profile the tumor clones in paired primary and relapsed tumor samples of hepato-cellular carcinoma (HCC). We identified three clonal subpopulations with a multitude of aneuploid alterations across the genome. Furthermore, we observed that a minor clone of the primary tumor containing additional alterations in chro-mosomes 1q, 10q, and 14q developed into the dominant clone in the recurrent tumor, indicating clonal selection during recurrence in HCC. Overall, this approach provides a comprehensive and scalable solution to understand genome hetero-geneity and evolution.

Objective:To investigate the expression of HIF-1α in serum of rats with contrast induced nephropathy and its effect on renal tubular injury.Methods:45 SD rats were randomLy divided into three groups (n=15).The rats in the blank control group (group A)were treated with 12 h (Sodium Chloride Injection) for three 0.5 mL after fasting water for a period of about 15 minutes.Contrast nephropathy group (B group) rats after fasting 12 h,in the tail vein with 10 mg/kg injection ofindomethacin,15 minutes after the injection of 10 mg/kg nitro-L-arginine methyl ester (L-NAME),15 minutes after the injection ofiobitridol (3 G I/kg).Atorvastatin group (C group) rats in the first 3 days of the experiment started feeding atorvastatin calcium tablets,continuous feeding for 3 days,at a dose of 80 mg/kg/d,and fasting 12 h,making contrast nephropathy model,with the steps of contrast nephropathy group.The changes of renal function indexes (BUN,Cr),HIF-1α expression and renal tubular injury in three groups were observed and compared.Results:The level of BUN in rats with contrast induced nephropathy was lower than that in atorvastatin calcium group and blank control group,but the level of Scr was higher than that of atorvastatin calcium group and blank control group,the difference was statistically significant (P＜0.05).The level of BUN in atorvastatin calcium group was lower than that in blank control group,but Scr level was higher than that in blank control group,the difference was statistically significant (P＜0.05).Compared with the blank control group,the renal tubular injury in the rats with contrast induced nephropathy group was higher than that in atorvastatin calcium group and blank control group,the difference was statistically significant (P＜0.05).Compared with the control group,the expression of HIF-1 was significantly higher in rats with contrast induced nephropathy than that in atorvastatin calcium group and blank control group.The expression of HIF-1 was significantly higher than that in the control group (P＜0.05).Conclusions:It is suggested that the statins could prevent the contrast-induced nephropathy.However,the ending mechanism of statins should be further studied in the clinical practices.

BACKGROUND:There is evidence that internal fixation through an anterior or posterior approach for treatment of severe kyphotic deformity in spinal tuberculosis exhibits good curative effects. However, few prospective, long-term fol ow-up case control studies are reported. OBJECTIVE:To investigate the efficacy and safety of cobalt al oy pedicle screw implantation for treatment of severe kyphotic deformity in spinal tuberculosis. METHODS/DESIGN:This is a prospective, single-center, self-control, open-label trial, which wil be performed at the Affiliated Hospital of Hebei University, China. Eighty-four patients with severe kyphotic deformity in spinal tuberculosis wil be included according to the diagnosis criteria. Among 52 patients with tuberculosis of the thoracic spine, 28 wil undergo surgery through a posterior approach, and 24 through an anterior approach. According to the Frankel Grade classification, grade C, D and E spinal cord function wil be assessed in 8, 31 and 13 patients, respectively. Surgery through a posterior and anterior approach wil be respectively performed in half of 32 patients with tuberculosis of the lumbar spine. Grade C, D and E spinal cord function wil be assessed in 7, 14 and 11 patients, respectively. The primary outcome measure of this study wil be the Cobb angle at the thoracic spine segments before and 2 years after surgery, which wil be used to evaluate the angle of the spine curvature at the thoracic segments. The secondary outcome measures wil be X-ray scan or MRI findings before and 2 years after surgery, which wil be used to evaluate vertebral fusion after internal fixation;and Frankel Grade before and 2 years after surgery, which wil be used to evaluate recovery of spinal cord function after injury. Other outcome measures wil include multiple logistic regression analysis results of the factors that influence patient's curative effects and the incidence of adverse events 2 years after surgery. The trial protocol has been approved by the Ethics Committee, Affiliated Hospital of Hebei University, China and wil be performed in strict accordance with the Declaration of Helsinki, formulated by the World Medical Association. Signed informed consent regarding the trial protocol wil be obtained from each participant. DISCUSSION:This study is to validate that cobalt al oy pedicle screw implantation shows precise curative effects in the treatment of severe kyphotic deformity in spinal tuberculosis and to analyze through what approach, posterior or anterior, internal fixation wil be more beneficial to surgery performance. The outcomes of this study wil provide objective long-term fol ow-up evidence for internal fixation treatment of severe kyphotic deformity in spinal tuberculosis in the clinic.

BACKGROUND: During the repair of thoracolumbar fracture, pedicle screw fixation is a commonly used treatment method. In the process of fixation, the different approaches can be used. OBJECTIVE: To compare effect and biocompatibility of pedicle screw by percutaneous approach, posterior median approach, and intervertebral space approach for thoracolumbar fracture. METHODS: 118 cases of thoracolumbar fracture were included after pedicle screw fixation. Al patients were divided into three groups according to the approach: posterior median approach group (38 cases), intervertebral space approach group (40 cases) and percutaneous approach group (40 cases). After 12 months of folow-up, perioperative conditions, pain score, vertebral height of anterior border, kyphosis correction effect, adverse events and biological compatibility were compared among three groups. RESULTS AND CONCLUSION:(1) Operation time, intraoperative bleeding and time in bed after surgery were shorter or less in the percutaneous approach and intervertebral space approach groups than in the posterior median approach group. Postoperative drainage was better in percutaneous approach and intervertebral space approach groups than in the posterior median approach group (alP < 0.05). Except drainage in the percutaneous approach and intervertebral space approach groups, no significant difference in other indicators was found. (2) Patients received imaging examination at different time points. The percentage of anterior vertebral height and kyphosis were significantly improved immediately after treatment and in final folow-up (alP < 0.05). No significant difference was detected before treatment, immediately after treatment and in final folow-up. (3) Visual Analogue score was identical before treatment. Visual analogue score was lower in the percutaneous approach and intervertebral space approach groups than in the posterior median approach group at 24 hours and 3 days after treatment and in final folow-up (alP < 0.05). No significant difference was detectable at 24 hours and 3 days after treatment and in final folow-up between the percutaneous approach and intervertebral space approach groups. (4) No rejection or wound non-healing was seen at 12 months after treatment. Some patients suffered from mild low back pain, which was improved by active symptomatic treatment. (5) These findings suggest that intervertebral space approach percutaneous approach obtained satisfactory outcomes compared with posterior median approach for treatment of thoracolumbar spine fractures, and good biocompatibility was found.