Objective: The CT/MRI Liver Imaging Reporting and Data System (LI-RADS) demonstrates high specificity with relatively limited sensitivity for diagnosing hepatocellular carcinoma (HCC) in high-risk patients. This study aimed to explore the possibility of improving sensitivity by combining CT/MRI LI-RADS v2018 with second-line contrast-enhanced ultrasound (CEUS) LI-RADS v2017 using sulfur hexafluoride (SHF) or perfluorobutane (PFB). Materials and Methods: This retrospective analysis of prospectively collected multicenter data included high-risk patients with treatment-naive hepatic observations. The reference standard was pathological confirmation or a composite reference standard (only for benign lesions). Each participant underwent concurrent CT/MRI, SHF-enhanced US, and PFB-enhanced US examinations. The diagnostic performances for HCC of CT/MRI LI-RADS alone and three combination strategies (combining CT/ MRI LI-RADS with either LI-RADS SHF, LI-RADS PFB, or a modified algorithm incorporating the Kupffer-phase findings for PFB [modified PFB]) were evaluated. For the three combination strategies, apart from the CT/MRI LR-5 criteria, HCC was diagnosed if CT/MRI LR-3 or LR-4 observations met the LR-5 criteria using LI-RADS SHF, LI-RADS PFB, or modified PFB. Results: In total, 281 participants (237 males; mean age, 55 ± 11 years) with 306 observations (227 HCCs, 40 non-HCC malignancies, and 39 benign lesions) were included. Using LI-RADS SHF, LI-RADS PFB, and modified PFB, 20, 23, and 31 CT/MRI LR-3/4 observations, respectively, were reclassified as LR-5, and all were pathologically confirmed as HCCs. Compared to CT/MRI LI-RADS alone (74%, 95% confidence interval [CI]: 68%–79%), the three combination strategies combining CT/MRI LI-RADS with either LI-RADS SHF, LI-RADS PFB, or modified PFB increased sensitivity (83% [95% CI: 77%–87%], 84% [95% CI: 79%–89%], 88% [95% CI: 83%–92%], respectively; all P < 0.001), while maintaining the specificity at 92% (95% CI: 84%–97%). Conclusion The combination of CT/MRI LI-RADS with second-line CEUS using SHF or PFB improved the sensitivity of HCC diagnosis without compromising specificity.

Objective: The CT/MRI Liver Imaging Reporting and Data System (LI-RADS) demonstrates high specificity with relatively limited sensitivity for diagnosing hepatocellular carcinoma (HCC) in high-risk patients. This study aimed to explore the possibility of improving sensitivity by combining CT/MRI LI-RADS v2018 with second-line contrast-enhanced ultrasound (CEUS) LI-RADS v2017 using sulfur hexafluoride (SHF) or perfluorobutane (PFB). Materials and Methods: This retrospective analysis of prospectively collected multicenter data included high-risk patients with treatment-naive hepatic observations. The reference standard was pathological confirmation or a composite reference standard (only for benign lesions). Each participant underwent concurrent CT/MRI, SHF-enhanced US, and PFB-enhanced US examinations. The diagnostic performances for HCC of CT/MRI LI-RADS alone and three combination strategies (combining CT/ MRI LI-RADS with either LI-RADS SHF, LI-RADS PFB, or a modified algorithm incorporating the Kupffer-phase findings for PFB [modified PFB]) were evaluated. For the three combination strategies, apart from the CT/MRI LR-5 criteria, HCC was diagnosed if CT/MRI LR-3 or LR-4 observations met the LR-5 criteria using LI-RADS SHF, LI-RADS PFB, or modified PFB. Results: In total, 281 participants (237 males; mean age, 55 ± 11 years) with 306 observations (227 HCCs, 40 non-HCC malignancies, and 39 benign lesions) were included. Using LI-RADS SHF, LI-RADS PFB, and modified PFB, 20, 23, and 31 CT/MRI LR-3/4 observations, respectively, were reclassified as LR-5, and all were pathologically confirmed as HCCs. Compared to CT/MRI LI-RADS alone (74%, 95% confidence interval [CI]: 68%–79%), the three combination strategies combining CT/MRI LI-RADS with either LI-RADS SHF, LI-RADS PFB, or modified PFB increased sensitivity (83% [95% CI: 77%–87%], 84% [95% CI: 79%–89%], 88% [95% CI: 83%–92%], respectively; all P < 0.001), while maintaining the specificity at 92% (95% CI: 84%–97%). Conclusion The combination of CT/MRI LI-RADS with second-line CEUS using SHF or PFB improved the sensitivity of HCC diagnosis without compromising specificity.

Objective: The CT/MRI Liver Imaging Reporting and Data System (LI-RADS) demonstrates high specificity with relatively limited sensitivity for diagnosing hepatocellular carcinoma (HCC) in high-risk patients. This study aimed to explore the possibility of improving sensitivity by combining CT/MRI LI-RADS v2018 with second-line contrast-enhanced ultrasound (CEUS) LI-RADS v2017 using sulfur hexafluoride (SHF) or perfluorobutane (PFB). Materials and Methods: This retrospective analysis of prospectively collected multicenter data included high-risk patients with treatment-naive hepatic observations. The reference standard was pathological confirmation or a composite reference standard (only for benign lesions). Each participant underwent concurrent CT/MRI, SHF-enhanced US, and PFB-enhanced US examinations. The diagnostic performances for HCC of CT/MRI LI-RADS alone and three combination strategies (combining CT/ MRI LI-RADS with either LI-RADS SHF, LI-RADS PFB, or a modified algorithm incorporating the Kupffer-phase findings for PFB [modified PFB]) were evaluated. For the three combination strategies, apart from the CT/MRI LR-5 criteria, HCC was diagnosed if CT/MRI LR-3 or LR-4 observations met the LR-5 criteria using LI-RADS SHF, LI-RADS PFB, or modified PFB. Results: In total, 281 participants (237 males; mean age, 55 ± 11 years) with 306 observations (227 HCCs, 40 non-HCC malignancies, and 39 benign lesions) were included. Using LI-RADS SHF, LI-RADS PFB, and modified PFB, 20, 23, and 31 CT/MRI LR-3/4 observations, respectively, were reclassified as LR-5, and all were pathologically confirmed as HCCs. Compared to CT/MRI LI-RADS alone (74%, 95% confidence interval [CI]: 68%–79%), the three combination strategies combining CT/MRI LI-RADS with either LI-RADS SHF, LI-RADS PFB, or modified PFB increased sensitivity (83% [95% CI: 77%–87%], 84% [95% CI: 79%–89%], 88% [95% CI: 83%–92%], respectively; all P < 0.001), while maintaining the specificity at 92% (95% CI: 84%–97%). Conclusion The combination of CT/MRI LI-RADS with second-line CEUS using SHF or PFB improved the sensitivity of HCC diagnosis without compromising specificity.

Objective: The CT/MRI Liver Imaging Reporting and Data System (LI-RADS) demonstrates high specificity with relatively limited sensitivity for diagnosing hepatocellular carcinoma (HCC) in high-risk patients. This study aimed to explore the possibility of improving sensitivity by combining CT/MRI LI-RADS v2018 with second-line contrast-enhanced ultrasound (CEUS) LI-RADS v2017 using sulfur hexafluoride (SHF) or perfluorobutane (PFB). Materials and Methods: This retrospective analysis of prospectively collected multicenter data included high-risk patients with treatment-naive hepatic observations. The reference standard was pathological confirmation or a composite reference standard (only for benign lesions). Each participant underwent concurrent CT/MRI, SHF-enhanced US, and PFB-enhanced US examinations. The diagnostic performances for HCC of CT/MRI LI-RADS alone and three combination strategies (combining CT/ MRI LI-RADS with either LI-RADS SHF, LI-RADS PFB, or a modified algorithm incorporating the Kupffer-phase findings for PFB [modified PFB]) were evaluated. For the three combination strategies, apart from the CT/MRI LR-5 criteria, HCC was diagnosed if CT/MRI LR-3 or LR-4 observations met the LR-5 criteria using LI-RADS SHF, LI-RADS PFB, or modified PFB. Results: In total, 281 participants (237 males; mean age, 55 ± 11 years) with 306 observations (227 HCCs, 40 non-HCC malignancies, and 39 benign lesions) were included. Using LI-RADS SHF, LI-RADS PFB, and modified PFB, 20, 23, and 31 CT/MRI LR-3/4 observations, respectively, were reclassified as LR-5, and all were pathologically confirmed as HCCs. Compared to CT/MRI LI-RADS alone (74%, 95% confidence interval [CI]: 68%–79%), the three combination strategies combining CT/MRI LI-RADS with either LI-RADS SHF, LI-RADS PFB, or modified PFB increased sensitivity (83% [95% CI: 77%–87%], 84% [95% CI: 79%–89%], 88% [95% CI: 83%–92%], respectively; all P < 0.001), while maintaining the specificity at 92% (95% CI: 84%–97%). Conclusion The combination of CT/MRI LI-RADS with second-line CEUS using SHF or PFB improved the sensitivity of HCC diagnosis without compromising specificity.

Objective: The CT/MRI Liver Imaging Reporting and Data System (LI-RADS) demonstrates high specificity with relatively limited sensitivity for diagnosing hepatocellular carcinoma (HCC) in high-risk patients. This study aimed to explore the possibility of improving sensitivity by combining CT/MRI LI-RADS v2018 with second-line contrast-enhanced ultrasound (CEUS) LI-RADS v2017 using sulfur hexafluoride (SHF) or perfluorobutane (PFB). Materials and Methods: This retrospective analysis of prospectively collected multicenter data included high-risk patients with treatment-naive hepatic observations. The reference standard was pathological confirmation or a composite reference standard (only for benign lesions). Each participant underwent concurrent CT/MRI, SHF-enhanced US, and PFB-enhanced US examinations. The diagnostic performances for HCC of CT/MRI LI-RADS alone and three combination strategies (combining CT/ MRI LI-RADS with either LI-RADS SHF, LI-RADS PFB, or a modified algorithm incorporating the Kupffer-phase findings for PFB [modified PFB]) were evaluated. For the three combination strategies, apart from the CT/MRI LR-5 criteria, HCC was diagnosed if CT/MRI LR-3 or LR-4 observations met the LR-5 criteria using LI-RADS SHF, LI-RADS PFB, or modified PFB. Results: In total, 281 participants (237 males; mean age, 55 ± 11 years) with 306 observations (227 HCCs, 40 non-HCC malignancies, and 39 benign lesions) were included. Using LI-RADS SHF, LI-RADS PFB, and modified PFB, 20, 23, and 31 CT/MRI LR-3/4 observations, respectively, were reclassified as LR-5, and all were pathologically confirmed as HCCs. Compared to CT/MRI LI-RADS alone (74%, 95% confidence interval [CI]: 68%–79%), the three combination strategies combining CT/MRI LI-RADS with either LI-RADS SHF, LI-RADS PFB, or modified PFB increased sensitivity (83% [95% CI: 77%–87%], 84% [95% CI: 79%–89%], 88% [95% CI: 83%–92%], respectively; all P < 0.001), while maintaining the specificity at 92% (95% CI: 84%–97%). Conclusion The combination of CT/MRI LI-RADS with second-line CEUS using SHF or PFB improved the sensitivity of HCC diagnosis without compromising specificity.

Objective:To analyze the disease-causing genes of families affected by retinitis pigmentosa (RP).Methods:A pedigree investigation study was performed.The clinical data of 51 Chinese families with RP treated at the Renmin Hospital of Wuhan University from June 2019 to December 2022 were collected, including patient history, family history and clinical data of ophthalmic examination.Ophthalmic examination including best corrected visual acuity, slit lamp microscopy, color fundus photography, fundus autofluorescence, macular optical coherence tomography, visual field and electroretinogram.Peripheral blood samples from patients and their family members were collected for DNA extraction and whole exome sequencing.The mutation sites found were analyzed by bioinformatics and verified by Sanger sequencing.The pathogenicity of the missense mutations was predicted using SIFT, Polyphen and other online software.Conservation of the missense mutation site was evaluated using Mutation Taster.The shear mutation was predicted using varSEAK and spliceAI.The amino acid sequences of the newly discovered mutation sites were compared using Clustalw software.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Renmin Hospital of Wuhan University (No.WDRY2019-K032).Results:Among the 51 families, two proband patients had hearing impairment and were diagnosed as Usher syndrome.In addition to typical RP features, the two proband patients also showed yellow-white crystalline substance deposits in fundus imaging, while the other proband patients showed typical RP.A total of 38 single nucleotide variants (SNVs) and 3 copy number variants were detected in 15 pathogenic genes in 29 of 51 families, including PRPF6, PRPF31, RHO, CYP4V2, USH2A, EYS, MERTK, PCDH15, ABCA4, BBS2, PROM1, SPATA7, RPE65, RPGR and OFD1 genes.There were 6 of the 38 SNVs that were novel variants that had not been reported, which were USH2A gene c.12523T>C(p.Trp4175Arg), c.1723T>C(p.Cys575Arg), c.1875C>G(p.Phe625Leu), CYP4V2 gene c.1441C>T(p.Leu481Phe), MERTK gene c.2487-8A>G and PCDH15 gene c. 5183del(p.Arg1728LysfsTer116).SIFT and Polyphen prediction software predicted that amino acid changes caused by the 4 missense variants, USH2A gene p. Trp4175Arg, p.Cys575Arg, p.Phe625Leu and CYP4V2 gene p. Leu481Phe, are all pathogenic or harmful.Conservation analysis showed that they are conserved in multiple species.The prediction software spliceAI and varSEAK suggested that MERTK gene c.2487-8A>G may lead to abnormal shear and affect protein function. PCDH15 gene c. 5183del(p.Arg1728LysfsTer116) is a frameshift variant that alters the downstream amino acid sequence and terminates translation early. CYP4V2, USH2A, and RPGR were frequently mutated genes in RP patients, accounting for more than 50% of the families with pathogenic genes detected.The proband with CYP4V2 variants had late onset, but severe visual impairment and retinal degeneration. Conclusions:Six previously unreported variants may be novel pathogenic variants of RP. CYP4V2, USH2A, and RPGR may be the most common pathogenic genes in Chinese RP patients.Patients with CYP4V2 variants have late onset, but faster disease progression.

Objective To investigate the utility of dual-energy CT combined with musculoskeletal ultraso-nography in differentiating between calcium pyrophosphate deposition disease and gouty arthritis.Methods A retro-spective analysis was conducted on the medical records of 102 patients diagnosed with gouty arthritis and 102 patients diagnosed with calcium pyrophosphate deposition disease.These patients were categorized into the Gout group and Calcium Deposition group,respectively,based on their respective diagnoses.All patients underwent dual-energy CT and musculoskeletal ultrasonography examinations,while joint fluid aspiration results or intra-articular crystal material served as the gold standard for diagnosis.The diagnostic efficacy of dual-energy CT and musculoskeletal ultrasonography in discriminating between calcium pyrophosphate deposition disease and gouty arthritis was evalu-ated.Results In the gout group,the proportion of male patients and serum uric acid levels were significantly higher compared to those in the calcium deposition group(P<0.05).The prevalence rates of knee joint,first metatarsopha-langeal joint,and ankle joint involvement were higher in the gout group,while knee joint,wrist joint,and shoulder joint involvement rates were higher in the calcium deposition group.The proportions of irregular bone cortex,carti-lage injury,and degenerative meniscus changes were lower in the gout group compared to the calcium deposition group(P<0.05).The proportions of double contour sign,tophus formation,hyperechoic band within ligaments or tendons,and bone erosion were higher in the gout group compared to the calcium deposition group(P<0.05),whereas cartilage calcification was lower in the gout group(P<0.05).The sensitivities for diagnosing calcium pyrophosphate deposition disease and gouty arthritis using dual-energy CT scan alone,musculoskeletal ultrasound alone,and their combined use were 86.27%,83.33%,and 94.12%respectively.The specificities for diagnosing these conditions using dual-energy CT scan alone,musculoskeletal ultrasound alone,and their combined use were 89.22%,88.24%,and 86.27%respectively.The positive predictive values were 88.89%,87.63%,and 87.27%,respectively.The negative predictive values were 86.67%,84.11%,and 93.63%,respectively.The accuracies were 87.75%,85.78%,and 90.20%respectively.The agreement Kappa values were 0.755,0.716,and 0.804 respectively.Conclusions The integration of dual-energy CT and musculoskeletal ultrasonography exhibits promising diagnostic efficacy in discriminating between calcium pyrophosphate deposition disease and gouty arthritis.This combined approach serves as a valuable adjunctive tool for the diagnosis of both conditions.

Objective:To investigate the clinical characteristics and treatment strategies of patients with connective tissue disease (CTD) related lymphatic duct obstruction.Methods:The clinical data, laboratory tests results, imaging data, and treatment of CTD patients associated with lymphatic vessel obstruction were retrospectively collected from January 2008 to December 2020 at Beijing Shijitan Hospital. Lymphatic duct obstruction was confirmed by thoracic duct ultrasound or thoracic duct MRI or lymphoscintigraphy or direct lymphangiography. SLE and RA patients were matched with gender and age in a 1∶2 ratio, and SLE and RA patients without lymphatic reflux disorder admitted at the same time were randomly selected as the control group. When comparing the data between the two groups, t-test or rank sum test was used to test continuous variables, and chi-square test or Fisher′s exact probability method was used to test categorical variables. Results:Forty-four patients with CTD complicated with thoracic duct obstruction were included, with a male-to-female ratio of 7∶37, including 14 cases of rheumatoid arthritis (RA), 21 cases of systemic lupus erythematosus (SLE), 8 cases of primary Sjogren's syndrome (pSS), and 1 case of systemic sclerosis (SSc). The onset age of CTD ranged from 14 to 68 years, the mean age was (37±15) years and the median duration of CTD was 66 (range 1~480) months. The median age at the onset of lymphatic duct obstruction such as limb edema or thoracoabdominal effusion was (42±17) years, and the median duration of lymphatic duct obstruction symptoms was 12 (range 3~480) months. 59%(26/44) of patients were diagnosed with CTD followed by the diagnosis of thoracic duct obstruction, and 41%(18/44) of patients had lymphatic duct obstruction symptoms as the initial presentation of CTD. Thoracic duct-related imaging was performed in 44 patients and showed thoracic duct obstruction (64%, 28/44), thoracic duct malformation or variation (36%, 16/44), limb lymphatic reflux disorder (34%, 15/44), and small bowel lymphatic duct dilatation or intestinal protein loss (18%, 8/44), respectively. Compared with the control group, among these patients, patients with RA complicated with lymphatic involvement had a younger onset age [(34±14)years old vs. (44±13)years old, t=-2.15, P=0.037)] and longer RA course [(17±11)months vs. (7±7)months, t=3.38, P=0.002] and presented with limb swelling (12/14). While compared with the control group, SLE patients complicated with lymphatic duct obstruction presented with celiac multi-plasmatic effusion (20/21), more patients presented with multiple serous cavity effusion [95%(20/21) vs. 62%(25/42), χ2=7.63, P=0.006], but the prevalence of lupus nephritis [(60%(12/21) vs. 86%(36/42), χ2=4.87, P=0.027] and lupus encephalopathy [0%(0/21) vs. 16.7%(17/42), χ2=6.11, P=0.013] was lower. 27% (12/44) of patients improved with aggressive glucocorticoids combined with immunosuppressive therapy, 54%(24/44) of patients were performed with lymphatic duct reconstruction surgery on top of medical treatment, 5 patients were lost of follow-up, and 2 patients deceased. Conclusion:CTD patients may develop lymphatic duct obstruction during the disease course, while lymphatic duct obstruction can also be the initial presentation of CTD. Rheumatologists and surgeons should be alert to this rare situation. Young women with refractory polyserositis or lymphedema should be examined for the possibility of combined CTD. Lymphatic duct obstruction may be associated with long-term chronic inflammation in CTD. Glucocorticoids combined with immunosuppressive agents and surgery can be used to treat lymphatic duct obstruction in patients with CTD.

Objective To investigate the clinical characteristics of 16 patients with connective tissue diseases associated interstitial lung disease(CTD-ILD)complicated with lung cancer,and to improve the cognition of the disease.Methods Clinical data of 16 patients diagnosed as CTD-ILD associated with lung cancer,who were admitted to our center,were retrospectively analyzed,including general conditions,clinical characteristics,auxiliary examinations,pathological classification of lung cancer,TNM type,treatment and clinical outcome.Results Among the 16 CTD-ILD patients with lung cancer,there were 12 males and 4 females.The mean age at diagnosis of CTD-ILD was(64.7±9.2)years,and the mean age at diagnosis of lung cancer was(66.6±8.7)years.Lung occupying space on imaging(62.5%)was the most common initial symptom in lung cancer patients,followed by cough and phlegm(12.5%)and chest pain(12.5%).Of patients with lung cancer,adenocarcinoma(8 cases,50.0%)was the most common pathological type,followed by small cell lung cancer(4 cases,25.0%).The diagnosis time of CTD-ILD was earlier than that of lung cancer in 8 cases(50.0%),with a median time of 36.0(11.3,57.0)months,followed by 7 cases(43.8%)of CTD-ILD diagnosed with lung cancer at the same time.The diagnosis time of lung cancer was earlier than that of CTD-ILD in 1 case(6.3%).The most common TNM stage for lung cancer was stage Ⅳ(9 cases,56.25%).Sixteen patients were followed up from 1 to 64 months,with a median of 8.5(1.5,14.3)months.Eleven patients(68.8%)died,including 8 patients(72.7%)died of infection and 3 patients(27.3%)died of end-stage lung cancer.Conclusion For CTD-ILD patients,close follow-up and regular imaging monitoring are necessary to help early detection of lung cancer and improve prognosis.

Background The threshold limit values (TLVs) established and regularly updated by the American Conference of Governmental Industrial Hygienists (ACGIH) are widely adopted and referenced globally, serving as a crucial reference for China's occupational exposure limits (OELs). It is necessary to track it regularly and compare it with China's OELs. Objective To compare the OELs stipulated in Occupational exposure limits for hazardous agents in the workplace—Part 1: Chemical hazardous agents (GBZ 2.1—2019) and the ACGIH TLVs (2024) and to provide references for subsequent formulation and revision of OELs in China. Methods The OELs specified in GBZ 2.1—2019 and the TLVs issued by ACGIH were used to establish a database using Microsoft Excel 2019 software. Cross verification was conducted through matching Chemical Abstracts Service Registry Numbers (CAS Rn) and both Chinese and English names to ensure accuracy. Then, comparisons and analyses were carried out based on the type of limit values, which were matched as follows: permissible concentration-time weighted average (PC-TWA) with threshold limit value-time weighted average (TLV-TWA), permissible concentration-short term exposure limit (PC-STEL) with threshold limit value-short term exposure limit (TLV-STEL), and maximum allowable concentration (MAC) with threshold limit value-ceiling (TLV-C). Comparisons included types, quantities, and sizes of limits. Results The GBZ 2.1—2019 OELs and the ACGIH TLVs (2024) were generally consistent in terms of types and definitions, but there were differences in the number and size of the limits. In terms of the number of limits, GBZ 2.1—2019 specified 365 OELs for 358 chemical hazardous agents, while ACGIH TLVs (2024) included 316 corresponding limits. Among these, 148 (46.9%) limits were consistent, 38 (12.0%) were basically consistent, and 130 (41.1%) were inconsistent. In terms of the size of the limits, out of the 130 inconsistent limits, 51 OELs were lower than the corresponding TLVs, 67 OELs were higher than the corresponding TLVs, and 12 were under different limit types. For some chemical hazardous agents, their OELs were significantly lower or higher than their TLVs. Conclusion Some of the OELs for chemical hazardous agents specified in GBZ 2.1—2019 are significantly lower or higher than the TLVs. For these chemical hazardous factors, it is recommended to prioritize their inclusion in research projects and to complete the revisions as soon as possible based on the latest scientific evidence.