1.Accuracy of Magnetic Resonance Spectroscopy–Detected Fumarate Peak for Diagnosing Fumarate Hydratase Deficiency in Uterine Leiomyomas: A Prospective Study
Guiqin LIU ; Wenxin YU ; Shihang PAN ; Yuansheng LUO ; Jingli CHEN ; Mengying ZHU ; Zaoyu WANG ; Yang SONG ; Jin ZHANG ; Jianrong XU ; Yan ZHOU ; Jun MA ; Guangyu WU
Korean Journal of Radiology 2026;27(5):440-451
Objective:
To evaluate the diagnostic performance of magnetic resonance spectroscopy (MRS) in discriminating fumarate hydratase-deficient (FH-d) uterine leiomyomas (ULs) from FH-preserved ULs.
Materials and Methods:
This study consisted of three stages, with independent cohorts recruited for each stage: 1) sample-size estimation was retrospectively performed on UL specimens (diameter ≥3 cm; age, 20–40 years) from our database with immunohistochemistry (IHC) for 2-succinocysteine (2-SC) as the reference, without genetic testing, 2) MRS sequence optimization in confirmed FH germline mutation participants with ultrasound-detected ULs (diameter ≥3 cm), without IHC analysis, and 3) prospective diagnostic test accuracy was evaluated in consecutive participants with ultrasound-detected ULs (diameter ≥3 cm;age, 20–40 years), using IHC for 2-SC for determining the FH status and subsequent genetic testing in those with positive 2-SC results to identify whether FH mutations were germline or somatic in origin. The choline and fumarate peaks in MRS were classified as positive, negative, or technical failure (TF). TFs were analyzed separately and excluded from the primary diagnostic accuracy calculations. T1-, T2-, and diffusion-weighted images were interpreted as hyperintense or hypointense. The enhancement rate and apparent diffusion coefficient were also acquired. Diagnostic performance was compared between MRS and various magnetic resonance imaging (MRI) features.
Results:
The optimal MRS parameters for the fumarate peak were echo time (TE) = 140 ms and an average of 256. Among the 360 prospective participants, 37 were confirmed to have FH-dULs. MRS showed positive fumarate peaks in 35 of 37 FH-dULs.After excluding six TFs, the positive fumarate peak on MRS showed 94.6% (35/37) sensitivity, 99.7% (316/317) specificity, and 99.2% (351/354) accuracy, all of which were significantly superior to those of other MRI features (P ≤ 0.002).
Conclusion
A positive fumarate peak on MRS may be a useful imaging biomarker for diagnosing FH-dULs.
2.Study on the population genetic structure and phylogenetic relationship of the Han population in Dalian
Wenqian SONG ; Shihang ZHOU ; Nan XIAO ; Lingzi PAN ; Linnan SHAO ; Yuexin XIA ; Ying DUAN ; Yicheng YANG ; Chunxiang LI ; Weijian YU
Chinese Journal of Forensic Medicine 2024;39(1):88-93
Objective To study the population genetic structure and phylogenetic relationships by combining Y-STR haplotype genetic information from the Han population in Dalian with 32 domestic and foreign groups.Methods Blood samples of 958 Han male volunteers from Dalian were collected.Genetic typing of 42 genetic loci was completed using Y-STR fluorescent reagent kits and capillary electrophoresis.Related forensic parameters were calculated.Nei's standard genetic distances among 33 populations based on 17 Y-STR loci were computed,in order to create a principal coordinate analysis as well as construct a phylogenetic tree.Results The analysis of genetic polymorphisms at 42 Y-STR loci revealed 30 unconventional alleles at 10 loci.Genetic analysis of the population based on 17 Y-STR loci confirmed that Dalian's Han population had the closest genetic distance to the Anshan's Han population,followed by populations from Henan,Heilongjiang,Jilin,Shandong,and Chongqing.Furthermore,the genetic distances between the Han population in Dalian and the Qiang population in Beichuan or the Miao population in Guizhou were relatively closer than that to the Manchu population living in Liaoning.Conclusion The genetic distance between the Han population in Dalian and other groups is not entirely proportional to ethnicities and geographical proximity.Both population migration and ethnic assimilation or isolation may have influence on it.
3.Effect of phenotypes of Duffy blood group on chemokine storage and chemokine scavenging function of erythrocytes
Shihang ZHOU ; Lingzi PAN ; Wenqian SONG ; Linnan SHAO ; Yaxin FAN
Chinese Journal of Blood Transfusion 2023;36(10):872-875
【Objective】 To investigate the effect of phenotypes of Duffy blood group on chemokine storage and chemokine scavenging function of erythrocytes. 【Methods】 Twenty-four erythrocyte samples were collected and tested Duffy blood phenotype using the anti-human globulin method, and erythrocyte CCL2, CCL5, CXCL8, and CCL11 content and their chemokine scavenging function using ELISA. The expression of Duffy antigens on erythrocytes was detected using a flow analyzer. 【Results】 The difference in CCL2 content(41.1±14.7 pg/mL vs 63.1±20.8 pg/mL)of erythrocyte lysate between Fy(a+b-) and Fy(a+b+) phenotype was statistically significant (P<0.05), however, the difference in the content of CCL5(794.5±320.1 pg/mL vs 846.9±359.4 pg/mL), CXCL8(59.5±34.2 pg/mL vs 49.1± 11.9 pg/mL), and CCL11(109.1±25.1 pg/mL vs 158.6 ±56.0 pg/mL) were not statistically significant (P>0.05).The difference in the scavenging function of CCL2(1471±202.1 pg/mL vs 1860±267.5 pg/mL)and CCL5 (848.5±461.7 pg/mL vs 1797±546.1pg/mL) between Fy(a+b-) and Fy(a+b+) phenotype were statistically significant (P<0.05), however, for CXCL8(1851±180.7 pg/mL vs 1 862± 248.3 pg/mL) and CCL11(691.0±125.7 pg/mL vs 781.7 ±293.8 pg/mL) scavenging function the difference were not statistically significant (P>0.05).The difference in Duffy antigen expression (mean fluorescent intensity:105.3±20.45 vs 111.9±18.30)on erythrocytes between Fy(a+b-) and Fy(a+b+) phenotype was not statistically significant (P>0.05). 【Conclusion】 The Fy(a+b+) and Fy(a+b-) phenotypes of the Duffy blood group can affect the chemokine storage and scavenging function of erythrocytes. Fy(a+b+) phenotypes are able to store more chemokines and have a stronger chemokine scavenging function than Fy(a+b-) phenotypes.
4.Application of three-dimensional visualization technique in anatomical variation of peripancreatic vessels in patients with pancreatic occupancy
Xuan PAN ; Xiaoming WANG ; Shihang XI ; Cheng WANG ; Chao ZHANG ; Hui HOU ; Zheng LU ; Jiangtao YU
Chinese Journal of Hepatobiliary Surgery 2022;28(3):206-209
Objective:To explore the application value of three-dimensional visualization technology in the analysis of anatomic variation of peripancreatic vessels in patients with pancreatic space occupation.Methods:A total of 98 cases in Yijishan Hospital of Wannan Medical College, the First Affiliated Hospital of University of Science and Technology of China, the First Affiliated Hospital of Anhui Medical University, the Second Affiliated Hospital of Anhui Medical University, the First Affiliated Hospital of Bengbu Medical College, Fuyang People's Hospital from June 2018 to December 2019 were retrospectively analyzed. Of 94 patients were enrolled, including 56 males and 38 females, aged (61.2±7.2) years. Abdominal organs and blood vessels were reconstructed by 3D visualization technology, and anatomic variation of peripancreatic vessels was analyzed, including abdominal trunk, hepatic artery system, portal vein system and dorsal pancreatic artery.Results:The three-dimensional reconstruction rate of celiac trunk vessels was 100.0% (94/94). The 60 cases of abnormal celiac trunk were as follows: liver and spleen trunk in 5 cases (5.3%), stomach and spleen trunk in 1 case (1.1%), liver, stomach and spleen mesentery trunk in 3 cases (3.2%), liver, stomach and spleen mesentery trunk in 17 cases (18.1%), celiac trunk with one or more inferior phrenic arteries in 34 cases (36.2%). There were 69 cases (73.4%) of Michels type Ⅰ, 2 cases (2.1%) of Michels type Ⅲ, 1 case (1.1%) of Michels Ⅴ, 2 cases (2.1%) of Ⅷ, and 1 case (1.1%) of type Ⅸ of hepatic artery system. There were 17 cases (18.1%) of accessory left hepatic artery from celiac trunk which did not belong to Michels classification. Left accessory hepatic artery originated from left gastric artery and left hepatic artery originated from superior mesenteric artery in 1 case (1.1%), right accessory hepatic artery originated from celiac trunk combined with proper hepatic artery and right anterior hepatic artery combined with gastroduodenal artery originated from right posterior hepatic artery in 1 case (1.1%). Abnormal walking of dorsal pancreatic artery in 3 cases. The inferior mesenteric vein flowed into the superior mesenteric vein in 38 cases (40.4%), and the inferior mesenteric vein flowed into the splenic vein and superior mesenteric vein in 4 cases (4.3%).Conclusion:Three-dimensional visualization technique is helpful to determine the variation of peripancreatic vessels, and has certain significance for accurate preoperative evaluation and surgical guidance of patients with pancreatic space occupation.

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