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25 April 2023, Volume 22 Issue 02 Previous Issue    Next Issue

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Special report

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Report on diagnosis and treatment of hemophilia in China 2023 XUE Feng, DAI Jing, CHEN Lixia, LIU Wei, ZHANG Houqiang, WU Runhui, SUN Jing, ZHANG Xinsheng, WU Jingsheng, ZHAO Yongqiang, WANG Xuefeng, YANG Renchi 2023, 22 (02):  89-115.  DOI: 10.16150/j.1671-2870.2023.02.001 Abstract ( 3570 )   HTML ( 109 )   PDF (1494KB) ( 4061 )   In recent years, China attaches great importance to the prevention and treatment of rare diseases. As one of the representative diseases of rare diseases, management of Hemophilia has made great progress in China. From 1986 to 1989, the National Hemophilia Cooperative Group conducted China's hemophilia epidemiological survey according to the unified method and standard, and the results showed that the prevalence of hemophilia was 2.73/100 000, and there was no statistical difference in prevalence among different regions. In 2014, Meta-analysis showed that the prevalence of hemophilia in China was 2.8/100 000, and in 2018, based on the data of the urban population of Tianjin, the local prevalence of hemophilia was estimated to be 3.09/100 000. With the comprehensive promotion of the construction of hemophilia hierarchical diagnosis and treatment system, China requires that hospitals applying for hemophilia comprehensive management centers and diagnosis and treatment centers must be able to independently carry out screening tests and confirmatory tests related to hemophilia diagnosis. For diagnosis of hemophilia, most laboratories in China usually adopt the one-stage method (coagulation method) based on the activated partial thromboplastin time (APTT) for the determination of coagulation factor activity, but it should be noted that more than two activity detection methods are required for some special types of hemophilia. The types of each mutation in the F8 gene of patients in China are similar to those reported in international data, and the mutations in the F9 gene of our patients are mainly single base point mutations, with no mutation hotspots found. As of June 2023, a total of more than 40 000 cases with inherited bleeding disorders registered in 261 centers in China (including hemophilia), through the National Hemophilia Registration System. The history of hemophilia treatment in China has been explored through inadequate on-demand and low-dose prophylaxis, and is now moving towards higher-dose prophylaxis and individualized prophylaxis with higher efficacy. Based on the above registry data and literature, this report comprehensively summarizes the progress of basic and clinical research and medical protection in the field of hemophilia in China, and analyzes the shortcomings for further improvement of hemophilia diagnosis and treatment in China. Figures and Tables | References | Related Articles | Metrics

Interpretation of guideline

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Interpretation of clinical practice guidelines for myelodysplastic syndrome (version 1, 2023) of National Comprehensive Cancer Nerwork(NCCN) SONG Luqian, CHANG Chunkang 2023, 22 (02):  116-120.  DOI: 10.16150/j.1671-2870.2023.02.002 Abstract ( 910 )   HTML ( 32 )   PDF (904KB) ( 6503 )   Myelodysplastic syndrome (MDS) is a diverse and common group of myeloid malignant clonal diseases in the hematologic system, with different classification and grouping, clinical manifestations and natural course, and the iteration of different classification systems and versions in history, resulting distress in the correct diagnosis, classification and treatment options. The National Comprehensive Cancer Network (NCCN) released the first version （2023） of Clinical Practice Guidelines for MDS in September 2022. The guideline is based on the clinical practice and standards of high-level evidence and the latest research progress, and its attracts wide attention from clinicians worldwide. Currently, many clinicians in China have insufficient understanding of MDS, and there is still a certain gap with the international diagnosis and treatment level of MDS. This paper interprets the content of the new guidelines, and compares it with the previous guidelines, in order to provide a reference for the standardized diagnosis and treatment of MDS at the current stage in China. Figures and Tables | References | Related Articles | Metrics

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Interpretation of Multiple Myeloma Guidelines update (version 2， 2023) of National Comprehensive Cancer Network （NCCN） TAO Yi, MI Jianqing 2023, 22 (02):  121-126.  DOI: 10.16150/j.1671-2870.2023.02.003 Abstract ( 2608 )   HTML ( 78 )   PDF (1042KB) ( 6199 )   Multiple myeloma (MM) is the second most common hematological malignancy. With the continuous advent of new drugs, the survival of MM patients has been significantly improved, with a median survival of 7-10 years. However, the overall survival of high-risk MM patients is still less than 3 years, and extending the survival of high-risk MM has always been a hot topic in this field. The National Comprehensive Cancer Network (NCCN) released the 2nd version of the MM guidelines for 2023 (2023. v2). Compared with the 5th edition of the MM guidelines for 2022, the update of this guideline in diagnosis is mainly reflected in the detailed description of high-risk MM in tabular form, including both cytogenetic high-risk factors containing 1q21 gain/amplification and clinical high-risk factors, such as extramedullary disease, renal failure and weakness. In terms of treatment, the updated guideline still emphasizes the importance of autologous hematopoietic stem cell transplantation in the era of new drugs, and indicates that the judgment of whether patients are suitable for transplantation needs to be dynamically adjusted based on the patients’ condition after initial treatment. 2023. v2 upgrades the recommendation of the new generation proteasome inhibitor carfilzomib in initial induction and CD38 monoclonal antibody in maintenance therapy. The combinations of these new drugs with immunomodulatory drug pomalidomide are also listed as the preferred regimens in relapsed patients. The diagnostic techniques for distinguishing high-risk MM and new drugs recommended in the updated guideline are currently available in China, Which greatly enhanc our confidence in the “clinical cure” of MM. A comprehensive interpretation of the 2023. v2 of the guidelines is expected to improve the diagnostic and therapeutic level of clinicians, and further improve the prognosis of China’s MM patient population, especially high-risk patients. Figures and Tables | References | Related Articles | Metrics

Original article

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Clinical differential diagnosis of acute tubulointerstitial nephritis and acute tubular necrosis HAO Jiaqi, WANG Xinlu, HU Xiaofan, PAN Xiaoxia, XU Jing, MA Jun 2023, 22 (02):  127-133.  DOI: 10.16150/j.1671-2870.2023.02.004 Abstract ( 550 )   HTML ( 11 )   PDF (1087KB) ( 502 )   Objective: To analyze the clinical and laboratory features of patients with acute tubulointerstitial nephritis (ATIN) and its differential diagnosis with acute tubular necrosis (ATN). Methods: From January 2009 to December 2018, patients with ATIN or ATN confirmed by renal biopsy in the Department of Nephrology, Ruijin Hospital ，Shanghai Jiao Tong Universtiy School of Medicine were included. The clinical manifestations and laboratory examination data were collected and analyzed comparatively. Results: During the period, there were 5 537 patients receiving renal biopsy,inclu-ding 135 ATIN cases [2.4% (135/5 537)] and 109 ATN [2.0%(109/5 537)].ATIN accounted for 21.4% (135/630) of the acute kidney disease (AKD) patients. The median age of ATIN patients was 53 years old and the female proportion was 57.0%. Main clinical manifestations of ATIN included fever, rash and arthralgia. Infection, and medicine use and toxic exposure were common inducements of ATIN. Compared with the ATN group, ATIN patients had higher female proportion (57.0% vs 33.9%) and lower BMI (22.9±3.6 vs 24.6±3.9, P<0.01). The occurrence of acute kidney injury (AKI) (14.8% vs 64.2%), oliguria（17.0% vs 48.6%）, and emergency dialysis after admission （19.3% vs 39.4%）in ATIN patients is lower (P<0.01). Hemoglobin (Hb) level [(100.9±20.9) g/L vs 116.7±29.8 g/L)] and blood urea nitrogen/creatinine ratio (BCR) (11.8±5.4 vs 14.6±11.0) in patients with ATIN were lower than those in ATN group(P<0.01). Multivariate regression analysis showed that high serum albumin（55 g/L）, low serum creatine (Scr) (<62 μmol/L), low uric acid (UA) (<208 μmol/L), and low Hb levels(<130 g/L) on admission were associated with ATIN. The predictive model combining the above four indicators showed that the area under the curve for diagnosing ATIN was 0.798 (95%CI: 0.742-0.853), with a sensitivity of 74.4% and a specificity of 71.4%. Conclusions: ATIN accounts for a high proportion in biopsy-confirmed AKD patients from Shanghai. It is more common in middle-aged women. Half of the patients have unknown causes, and their clinical manifestations are similar to ATN. Serum albumin, Scr, Hb, and UA levels at admission are helpful to the differential diagnosis of ATIN and AIN. The diagnostic prediction model based on the above four indicators showes good specificity and sensitivity. Figures and Tables | References | Related Articles | Metrics

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Characteristics and diagnostic value of CT and MRI in adrenocortical carcinoma: a study of 39 cases LI Weixia, XU Xueqin, ZHU Xiaolei, CHEN Kemin 2023, 22 (02):  134-140.  DOI: 10.16150/j.1671-2870.2023.02.005 Abstract ( 554 )   HTML ( 11 )   PDF (2072KB) ( 230 )   Objective: To analyze CT and MRI imaging features of adrenocortical carcinoma (ACC). Methods: A retrospective analysis was conducted on the CT, MRI plain and contrast-enhanced imaging manifestations and clinical data of 39 ACC patients,and all were confirmed by surgery and pathological examination. The imaging features with significant diagnostic value for ACC were summarized, and the value of two imaging techniques for the diagnosis of ACC was explored. Results: Fourteen patients underwent both CT and MRI plain and enhanced examinations, while 22 patients underwent CT plain and enhanced examinations, and 3 patients underwent MRI examination only. Among the 39 ACC patients, 38 tumors were unilateral (19 on the left and 19 on the right), and 1 tumor was bilateral; twenty-three cases of tumors were lobulated, while 16 cases were quasi circular; the diameter of the tumor ranged from 4.0 to 17.3 cm. In CT and MRI examinations, intralesional hemorrhage was found in 47.2% and 82.4% of cases; thickened and tortuous tumor vasculature were found in 91.7% and 50% of cases; irregular capsule was found in 77.8% and 82.4% of cases. All tumors showed heterogeneous enhancement, and most of the solid components of the tumor showed moderate enhancement; a small number of cases showed calcification, involvement of surrounding organs and blood vessels, retroperitoneal lymph nodes, and distant metastasis. Among the 14 cases who completed both CT and MRI plain and enhanced examinations, 6 and 12 cases with hemorrhage of tumor, 12 and 6 cases with tumor vasculature, and 9 and 12 cases with capsule irregularities, were found respectively. Conclusions: The manifestations of CT and MRI have certain characteristics in ACC patients. Most ACCs tend to be large (diameter more than 4 cm), lobulated, and tumor vasculature, with areas of hemorrhage and necrosis, capsule irregularities, and heterogeneous enhancement. CT has advantages in evaluating tumor vasculature over MRI, while MRI has advantages in displaying intralesional hemorrhage over CT. Figures and Tables | References | Related Articles | Metrics

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Value of aMAP, APRI, FIB-4 and liver stiffness in predicting the degree of esophageal and gastric varices in patients with hepatitis B cirrhosis AN Baoyan, GUO Qing, FENG Mingyang, XU Yumin, CAI Wei, XIE Qing, WANG Hui 2023, 22 (02):  141-146.  DOI: 10.16150/j.1671-2870.2023.02.006 Abstract ( 363 )   HTML ( 10 )   PDF (988KB) ( 790 )   Objective: To explore the predictive value of age-male-ALBI-platelets (aMAP), aspartate aminotransferase-to-platelet ratio index (APRI), fibrosis index based on the 4 factors (FIB-4) and liver stiffness measurement (LSM) on the degree of esophageal and gastric varices (EGV) in patients with hepatitis B cirrhosis. Methods: One hundred and fourteen patients with hepatitis B cirrhosis in Shanghai Ruijin Hospital from April 2018 to May 2022 were enrolled. Examinations including liver function, blood routine, LSM and gastroscopy were performed. aMAP, APRI, and FIB-4 were calculated using the calculation formulas of each model. Based on the results of gastroscopy, the patients were divided into four groups: non-EGV group (39 cases), mild EGV group (30 cases), moderate EGV group (23 cases) and severe EGV group (22 cases), and aMAP, APRI, FIB-4 between groups were compared. The receiver operator characteristic curve (ROC curve) was used to analyze the predictive value of aMAP, APRI, FIB-4 and LSM on the degree of EGV in patients with hepatitis B cirrhosis. Results: The aMAP, APRI, FIB-4 and LSM of patients with EGV groups (including mild, moderate and severe EGV groups) were significantly higher than those of the non-EGV group (P<0.05). The area under ROC (AUROC) of aMAP for evaluating the degree of EGV was 0.76, with sensitivity of 85.9% and specificity of 65.7%. The AUROC of APRI, FIB-4 and LSM for evaluating the degree of EGV were 0.86, 0.85 and 0.79 respectively, and the sensitivities were 81.30%, 82.80% and 88.40% respectively, and the specificities were 82.90%, 77.10% and 66.80% respectively. aMAP, APRI, FIB-4 and LSM have a good predictive value for EGV in patients with liver cirrhosis (P<0.05). Compared with the aMAP, APRI, FIB-4 and LSM in patients with mild, EGV, the aMAP, APRI and FIB-4 of patients with moderate and severe of EGV were significantly different (P<0.05). There was a significant difference in LSM between mild EGV group and moderate-severe group (P<0.05). aMAP, APRI and FIB-4 have certain predictive values for the degree of EGV in hepatitis B cirrhosis patients (P<0.05), with decreased sensitivi-ty and specificity. Conclusions： aMAP, APRI, FIB-4 and LSM are of high predictive value for the presence of EGV in patients with hepatitis B cirrhosis. aMAP, APRI and FIB-4 have certain predictive values for the degree of EGV and can be used as a supplementary method for the evaluation of EGV by invasive gastroscopy, and can provide the basis for the prevention and treatment of EGV. Figures and Tables | References | Related Articles | Metrics

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Value of heparin-binding protein in diagnosis of bloodstream infection LIN Han, ZUBAIREGULI Maimaitiabula, SU Tongxuan 2023, 22 (02):  147-153.  DOI: 10.16150/j.1671-2870.2023.02.007 Abstract ( 421 )   HTML ( 13 )   PDF (1133KB) ( 391 )   Objective: To investigate the diagnostic value of heparin-binding protein (HBP) in bloodstream infections. Methods: Two hundred and seven inpatients with positive blood culture results and 94 inpatients with negative results admitted to Ruijin Hospital, Shanghai Jiao Tong University School of Medicine from January 2021 to January 2022 were enrolled. The levels of HBP, procalcitonin (PCT), C-reactive protein (CRP), white blood cell count (WBC), absolute neutrophil count (ANC), and neutrophil-lymphocyte count ratio (NLCR) were detected on the day of blood culture specimens were collected. The levels of each biomarker between the blood culture positive group and the negative group were compared. The comparison of HBP levels in patients with bloodstream infection between different pathogens was also conducted. The receiver operator characteristic curve (ROC curve) were used to evaluate the diagnostic effectiveness of the above biomarkers and combined detection for bloodstream infection. Results: The levels of all the biomarkers were significantly elevated in patients with positive blood culture compared with those with negative results. Moreover, HBP levels in patients infected with Gram-positive bacterial were not significantly different from those infected with Gram-negative bacterial (median 70.26 ng/mL vs 89.15 ng/mL), but both of them were significantly higher than those in patients infected with fungi (median 22.90 ng/mL). The ROC curves for the diagnosis of bloodstream infections showed that HBP demonstrated a higher area under the curve (0.742, sensitivity 66.80%, specificity 74.40%), compared with WBC (0.622, sensitivity 64.70%, specificity 59.80%), ANC (0.651, sensitivity 51.60%, specificity 75.60%) and NLCR (0.618, sensitivity 72.10%, specificity 48.80%) significantly (P<0.05). After excluding patients with malignancies or hematopoietic disorders, the diagnostic value of HBP showed a similar result (0.708, sensitivity 60.50%, specificity 78.70%). The detection of combined HBP and PCT was an optimal choose for bloodstream infection, with an area under the curve of 0.751. Conclusions: HBP possesses a significant diagnostic value for bloodstream infections, and combination of HBP and PCT may be the preferred approach for accurate diagnosis. Figures and Tables | References | Related Articles | Metrics

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Application of deep learning image reconstruction algorithm in dual-energy CT scanning for preoperative T sta-ging of gastric cancer YAN Ling, WANG Lingyun, CHEN Yong, DU Lianjun 2023, 22 (02):  154-159.  DOI: 10.16150/j.1671-2870.2023.02.008 Abstract ( 520 )   HTML ( 4 )   PDF (1530KB) ( 407 )   Objective: To investigate the value of deep learning image reconstruction (DLIR) algorithm in dual-energy CT scanning for preoperative T staging of gastric cancer. Methods: Data from preoperative dual-energy CT of 45 patients with pathology-confirmed gastric cancer during January 2022 to February 2022 were retrospectively analyzed. The raw data of dual-energy scanning in venous phase were reconstructed by filtered back projection (FBP), adaptive statistical iterative reconstruction-V with a weight of 50% (AV-50) and of 100% (AV-100), and deep learning image reconstruction-mid-range (DLIR-M) algorithms. Then these images were used to reconstruct a 50 keV level virtual mono-energy image with a 1.25mm layer thickness. Images were reviewed by two radiologists with 5 and 10 years of experience in T staging of gastrointestinal tumors. It revealed that 22 cases were diagnosed pathologically as having early gastric cancer (T1a-T1b) and 23 cases as having advanced gastric cancer (T2-T3). Diagnostic accuracy of different reconstruction algorithms for T staging of gastric cancer were calculated using area under the receiver operating curve (AUC) ，with pathology results as the golden standard. Results: The AUC of the reconstructed dual-energy CT images based on FBP, AV-50, AV-100 and DLIR-M algorithms were 0.638, 0.667, 0.577 and 0.867, respectively. The AUC of DLIR-M images was significantly higher than those of FBP (P=0.0498), AV-50 (P=0.0477) and AV-100 (P=0.0123) images. Conclusions: Compared with traditional reconstruction algorithms of FBP and Asir-V，DLIR algorithm may further improve the accuracy of dual-energy CT scanning in preoperative T staging of gastric cancer. DLIR-M is significant for treatment decision-making. Figures and Tables | References | Related Articles | Metrics

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Association between hyperuricemia and hypertension in chronic kidney disease QIAN Ying, MA Xiaobo, GAO Chenni, ZHANG Chunli, MA Jun, ZHANG Wen, CHEN Xiaonong 2023, 22 (02):  160-165.  DOI: 10.16150/j.1671-2870.2023.02.009 Abstract ( 313 )   HTML ( 8 )   PDF (969KB) ( 217 )   Objective: To investigate the relationship between hyperuricemia and hypertension in patients with chronic kidney disease (CKD). Methods: The demographic characteristics, blood pressure and biochemical indicators in 530 outpatients of CKD were analyzed in this study from Jan 2020 to Mar 2020 in the Nephrology Department of Ruijin Hospital, Shanghai Jiao Tong University School of Medicine. Multivariate logistic regression analysis was used to evaluate the correlation between serum uric acid and hypertension in CKD patients. Results: The prevalence of hyperuricemia in CKD patients was 42.6%, and the prevalence of hypertension was 60.4%. In patients with CKD from stages 1 to 5, the prevalence of hypertension was 37.3%, 57.4%, 74.0%, 78.8%， 83.6% respectively, and the prevalence of hyperuricemia was 19.5%， 35.7%， 65.4%， 61.5%， 55.2% respectively. The prevalence of both hyperuricemia and hypertension among CKD 1-5 were significantly different. By comparison with the serum uric acid level in the first quartile (Q1，the multivariate-adjusted odds for hypertension in the Q2, Q3 and Q4 were 1.588, 1.368 and 2.542 times respectively. Among them, the risk of hypertension in the highest quartile group was 2.542 times as the risk in Q1. Conclusions: Among CKD patients, there is a significant correlation between hyperuricemia and hypertension. The risk of hypertension increases with the rise of serum uric acid level. More attention should be paid to CKD patients with asymptomatic hyperuricemia. Figures and Tables | References | Related Articles | Metrics

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Value of serum-free light chain assay in differential diagnosis and staging of nephropathy of various etiologies XIE Yaqiong, LIN Xiaoyi 2023, 22 (02):  166-171.  DOI: 10.16150/j.1671-2870.2023.02.010 Abstract ( 642 )   HTML ( 11 )   PDF (1212KB) ( 544 )   Objective: To assess the diagnostic efficacy of serum free light chain (sFLC) levels in differential diagnosis of monoclonal gammopathies of renal significance, and to evaluate the correlation between sFLC and stages of kidney disease caused by various etiologies. Methods: Three hundred and sixty-eight patients with non-monoclonal gammopathy-related nephropathy, 64 patients with monoclonal gammopathy of renal significance, and 30 normal individuals were enrolled from Shanghai Ruijin Hospital from January 2017 to September 2021. The sFLC levels were measured by IMMAGE 800 Protein Chemistry Analyzer (Beckman, USA). The statistical analysis was carried out by GraphPad Prism v9.0. Results: The sFLC levels in patients with monoclonal gammopathy were significantly higher than that in patients with non-monoclonal gammopathy (sFLCκ：453.0 mg/L vs. 53.2 mg/L; sFLCλ：382.5mg/L vs. 56.5mg/L, respectively), and the sFLCκ/λ ratio was abnormal. The best predictive value for diagnosing monoclonal gammopathy with kappa light-chain isotype was achieved using a cut-off value of sFLCκ/λ ratio at 1.952 (AUC 0.933 9; sensitivity 84.4%; specificity 97.0%). The best predictive value for diagnosing monoclonal gammopathy with lambda light-chain isotype was achieved using a cut-off value of sFLCκ/λ ratio at 0.455 (AUC 0.915 9; sensitivity 84.4%; specificity 87.2%). The correlation between sFLC levels and stages of kidney disease （r=0.7） was stronger in patients with non-monoclonal gammopathy compared with those with monoclonal gammopathy （r=0.4）. The correlation coefficients between sFLC levels and kidney disease stages are higher than those of the sFLCκ/λ ratio （r<0.3）. Conclusions: The sFLCκ/λ ratio could be used for differential diagnosis of monoclonal gammopathy of renal significance, whereas sFLC levels are more suitable for the evaluation of renal function in patients compared with sFLCκ/λ ratio. Figures and Tables | References | Related Articles | Metrics

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A comparative study on the value of urine free light chain and urine total light chain assays in quantitative monitoring of urine light chain LIU Yuanfang, WANG Yan, SHI Xinming, XU Wenbin, WANG Xuefeng, MI Jianqing 2023, 22 (02):  172-177.  DOI: 10.16150/j.1671-2870.2023.02.011 Abstract ( 555 )   HTML ( 5 )   PDF (1105KB) ( 1000 )   Objective: To explore whether the novel urine free light chain (uFLC) assay is superior to the traditional urine total light chain (uTLC) assay in quantitative monitoring of urine light chain. Methods: A total of 458 paired samples of blood and were collected from 280 patients (including 153 patients with plasma cell diseases and 137 patients with non-plasma cell diseases) from January 2022 to March 2023 at Ruijin Hospital， Shanghai Jiao Tong University School of Medicine. The positive concordance rates and correlations between the κ value, λ value and κ/λ ratio of uFLC and uTLC assays with the results of urinary immunofixation electrophoresis (uIFE) and serum free light chain (sFLC) were analyzed by Chi-squared test, MeNemar’s test and Spearman correlation coefficient calculation. Result: Among the 102 uIFE positive samples, 88.2% (90/102) of the samples had abnormal uFLC κ/λ ratio, and 87.3% (89/102) had abnormal uTLC κ/λ ratio (P<0.001). Among the 183 samples with abnormal sFLC κ/λ ratio, 65.6% (120/183) of the samples had abnormal uFLC κ/λ ratio, and 51.4% (94/183) had abnormal uTLC κ/λ ratio (P<0.001). Among the 457 samples with both uFLC and uTLC results, 164 samples (35.9%) had abnormal uFLC κ/λ ratio, and 123 samples (26.9%) had abnormal uTLC κ/λ ratio (P<0.001). There was a strong correlation between the levels of κ light chain, λ light chain, and κ/λ ratio of uFLC and uTLC (r values were 0.849, 0.697 and 0.648, respectively, P<0.001). The r values between the levels of corresponding κ light chain, λ light chain, and κ/λ ratio of uFLC and sFLC were 0.628, 0.552, and 0.640 (P<0.001), while the r values between the levels of κ light chain, λ light chain, and κ/λ ratio of uTLC assay and sFLC assay were 0.520, 0.533, and 0.551, respectively (P<0.001). Moderate correlations were indicated and the correlation between uFLC and sFLC was stronger than that between uTLC and sFLC. Conclusions: Compared with the uTLC assay, the uFLC assay is more sensitive in the quantitative monitoring of urine light chain and has higher positive concordance rates and stronger correlations with uIFE and sFLC results, indicating an objective quantitative determination of urine light chain. It is recommended to prioritize the use of uFLC assay in clinical quantitative monitoring of urinary light chain. Figures and Tables | References | Related Articles | Metrics

Case report

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Gitelman syndrome complicated with rhabdomyolysis: a case report and literature review LI lijuan, XIE Jie, ZHANG Wen, MA Jun 2023, 22 (02):  178-183.  DOI: 10.16150/j.1671-2870.2023.02.012 Abstract ( 243 )   HTML ( 5 )   PDF (1719KB) ( 233 )   Gitelman syndrome (GS) is a hereditary renal tubular disease, with usually mild clinical manifestations and non-specific symptoms such as fatigue, salt craving, and palpitations. GS complicated with Rhabdomyolysis (RM) is very rare in clinical practice. To date, less than 20 cases were reported in the literature and most of them were children. Thus, we reported the detailed diagnosis and treatment process of an adult GS patient complicated with RM, and analyzed the main points of diagnosis and treatment in combination with literature. A young male patient with long-term hypokalemia of unknown etiology was hospitalized due to severe fatigue and muscle soreness after sweating. Laboratory examinations showed he had hypokalemia, hypomagnesium, metabolic alkalosis, low urinary calcium excretion, mild activation of the renin-angiotensin-aldosterone system (RAAS) and significantly increased serum creatine kinase. Compound heterozygous mutations were then detected in SLC12A3 gene by exome sequencing. He was finally diagnosed as GS complicated with RM. After taking oral spironolactone, potassium chloride, calcium magnesium tablets and hydration treatments, the patient's clinical symptoms improved significantly. His electrolyte level and renal function were stable during 1 year of follow-up. Literature review indicated that RM was a rare complication in GS patients that usually occurred in children with severe hypokalemia and hypomagnesia. It is often induced by intense exercise, diarrhea or medications and might cause renal acute failure without early diagnosis and proper treatments. This case suggests that adult patients with GS may also have serious symptoms such as RM under certain inducements. Clinicians should master the key points for the diagnosis and treatment of GS to reduce misdiagnosis. Figures and Tables | References | Related Articles | Metrics

Reviews

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Advances in study on complications encountered in ultrasonography-guided thermal ablation of benign thyroid nodules HUA Qing, ZHOU Jianqiao 2023, 22 (02):  184-189.  DOI: 10.16150/j.1671-2870.2023.02.013 Abstract ( 507 )   HTML ( 10 )   PDF (1219KB) ( 706 )   Since 2000, ultrasonography-guided thermal ablation has been widely applied in treating benign thyroid nodule(BTN). However, considering complicated structures of thyroid gland and its surrounding tissues，various complications （such as voice change and hematoma）have been reported and attracted clinical attention. Intraoperative complications encountered in thermal ablation of BTN comprises of nerve (including the recurrent laryngeal nerve, sympathetic nerve and brachial plexus nerve) injury, vascular injury, skin burn and surrounding tissue burn, while postoperative complications mainly include nodule rupture, liquefactive necrosis and abnormal thyroid function. Among intraoperative complications, nerve injury is characterized by vocal changes, which is the most common complication. In the treatment of BTN using radiofrequency ablation and microwave ablation, occurrence rate of vocal changes is 0.4% to 8.1%. Other nerve complications include Horner's syndrome and brachial plexus injury. Vascular injury manifests as bleeding and hematoma; Burns to surrounding tissues include skin burns, tracheal burns, and esophageal burns. Postoperative complications include nodule rupture and abnormal thyroid function.Nodule rupture often occurs 1 week to 6 months after surgery. Liquefactive necrosis is a rare change after BTN using thermal ablation surgery. Abnormal thyroid function includes hypothyroidism and hyperthyroidism. This article reviews the manifestations of complications during and after ultrasound-guided thermal ablation of BTN, providing reference for diagnosis and treatment of complications. Figures and Tables | References | Related Articles | Metrics

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Advances in the evaluation of hepatic function by magnetic resonance imaging CHEN Qian, LIN Huimin, YAN Fuhua 2023, 22 (02):  190-196.  DOI: 10.16150/j.1671-2870.2023.02.014 Abstract ( 488 )   HTML ( 5 )   PDF (1542KB) ( 1739 )   Quantitative assessment of liver function reserve is crucial for preoperative evaluation of patients with liver diseases. The use of magnetic resonance imaging (MRI) for quantitative assessment of liver function reserve has been limited by technical challenges for a long time; recently, MRI has developed and improved in various aspects, such as imaging methods, contrast agents, quantitative parameters, etc., leading to new techniques and applications for liver function quantification. Magnetic resonance elastography (MRE) can measure the biomechanical properties of liver tissue, and provide information on liver microstructure and function based on parameters such as vibration wave propagation speed in the liver; hepatobiliary-specific contrast-enhanced MRI can visualize the hepatocyte uptake and biliary excretion of contrast agent, thus revealing the functional distribution of the liver; T1ρ and diffusion-weighted imaging (DWI) can capture the local microenvironment features such as macromolecular components and water diffusion, and quantify liver function using these characteristics. Moreover, the latest technological advances such as three-dimensional shear wave elastography (3D-SWE) and hepatobiliary-specific contrast-enhanced MRI combined with T1 mapping quantification have further enhanced the performance of these examinations in liver function quantification. Compared with the commonly used clinical methods for liver function assessment, such as biochemical indicators, Child-Pugh score and indocyanine green test, the advantage of imaging techniques is that they can offer spatial distribution information of liver function reserve that is not available from clinical methods, providing new tools for preoperative evaluation of liver function reserve. This is expected to bridge the gap of current clinical examinations, assist in preoperative planning of liver surgery, and has promising development prospects. Figures and Tables | References | Related Articles | Metrics

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Advances in biological markers of ferroptosis in myocardial infarction CHANG Yuchen, LI Jingbo 2023, 22 (02):  197-202.  DOI: 10.16150/j.1671-2870.2023.02.015 Abstract ( 795 )   HTML ( 8 )   PDF (1177KB) ( 1724 )   The development in diagnosis and treatment of myocardial infarction has significantly improved the prognosis of some patients, while the overall survival rate of patients remains much room for improvement. Further research of the mechanism of injury after myocardial ischemia and reperfusion may explore new directions of research. As a newly discovered form of regulated cell death, ferroptosis, an iron-dependent cell death caused by lipid peroxidation, which has been characterized by cell death involving the accumulation of lipid peroxides and reactive oxygen species. Ferroptosis, which has been acknowledged to play an important role in ischemia-reperfusion injury. Studies suggest that iron death-related marker changes after myocardial infarction (MI), including hiatus of mitochondrial ferritin (FtMt) in intracellular iron metabolism, decreased levels of glutathione peroxidase 4 (Gpx4), a terminal molecule of glutathione metabolism pathway, insufficient use of antiporter cystine/glutathione synthesis (SXc-) in glutathione synthesis, and overexpression of Acyl-CoA synthetase long-chain family member 4 (ACSL4) can lead to oxidative stress, inflammatory response, cardiomyocyte injury after myocardial infarction, and can aggravate the myocardial ischemia-reperfusion injury. The four biological markers mentioned above, FtMt, Gpx4, SXc- and ACSL4, are important research targets for the diagnosis and treatment of iron death after MI, which may deserve further study. Figures and Tables | References | Related Articles | Metrics