Clinical significance of Autotaxin in primary biliary cholangitis and primary Sjogren′s syndrome / 中华风湿病学杂志

Objective:Primary biliary cholangitis (PBC) and Primary Sj?gren′s syndrome (pSS) are autoimmune epithelial inflammatory diseases that share many common clinical symptoms. The aim of this study was to investigate the differences and diagnostic value of Autotaxin (ATX) in PBC and SS.Methods:The clinical data of 237 cases diagnosed with PBC, PBC secondary to SS, pSS and healthy individuals(HC) between September 2020 and September 2021 were retrospectively analyzed. The levels of ATX in each group were measured by enzyme-linked immunosorbent assay (ELISA), and the corresponding sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and area under the curve ( AUC), etc were analyzed. Normally distributed data were expressed as mean ±SD and non-normally distributed as median (IQR). The differences and correlations between ATX and the biochemical tests in each group were assessed by applying the Mann-Whitney U test, Spearman correlation analysis, etc. P<0.05 was considered statistically significant difference. Results:The results showed that ATX was positive in 33.9%, 33.3% and 53.3% for PBC, PBC secondary SS, and pSS, respectively, with the specificities of 93.1%, 100% and 93.2%, respectively. The highest accuracy was achieved in pSS and the sensitivity and specificity were 86.5% and 93.2%, which were higher than those in PBC group(56.8%, 93.1%), respectively. Compared with HC [32.6(21.8, 60.5)ng/ml], ATX levels in PBC[59.3(48.6, 86.3)ng/ml, U=1 750.50, P<0.001], PBC-SS [73.6 (53.3,102.4)ng/ml; U=199.00, P<0.001], and pSS [152.6 (97.4,192.1)ng/ml, U=264.00, P<0.001] were elevated with significant difference ( P<0.05). ATX levels showed a decreasing trend from the pSS group to the HC group. ATX in PBC group[AUC(95% CI)= 0.73(0.651,0.812), P<0.001], PBC secondary SS group [AUC(95% CI)=0.82(0.730, 0.912), P<0.001], and pSS group [AUC(95% CI)=0.94(0.898, 0.984), P<0.001] had prediction accuracy. ATX was associated with total protein ( r=-0.31, P=0.041) level and glutaminase (r=-0.26, P=0.024) level. Conclusion:ATX has diagnostic value in both PBC and SS, and with higher sensitivity and specificity for the latter.

General considerations for clinical trials design of gene therapy drug for β-thalassemia / 白血病·淋巴瘤

β-thalassemia is a single-gene genetic disease caused by β globin gene mutations leading to the fact that red blood cells are unable to form normal adult hemoglobin, and then patients develop hemolytic anemia. Current treatment regimens mainly include allogenetic hematologic stem cell transplantation, symptomatic regular blood transfusions and the use of iron removers to reduce iron load. Some severe patients have quite poor prognoses and deadly consequences if not treated timely. Genetically modified autohematopoietic stem cells can provide a new treatment option for patients with β thalassemia, which may achieve a long-term and stable increase in hemoglobin level through a single dose, making one-time cure β-thalassemia possible. This paper reviews the key elements of clinical trial design for β-thalassemia gene therapy from the aspects of efficacy evaluation endpoints, clinical trial design, enrollment population, and subject monitoring in order to provide a reference for pharma-therapeutic research and development enterprises.

Application of high-frequency ultrasound and dermoscopy in precise preoperative evaluation of basal cell carcinoma / 中华皮肤科杂志

Objective To evaluate the application value of ultrasound and dermoscopy in the precise preoperative evaluation of basal cell carcinoma (BCC),and to analyze the association of high-frequency ultrasound and dermoscopic findings with pathological recurrence risk of BCC.Methods Clinical data were collected from 33 outpatients with confirmed BCC in the Department of Dermatology,Peking Union Medical College Hospital between April 2016 and December 2018,and high-frequency ultrasonographic and dermoscopic findings from 36 BCC lesions were analyzed.The lesions were classified into high-risk and low-risk groups based on pathological findings.Statistical differences in ultrasound and dermoscopic characteristics between high-risk and low-risk BCC groups were analyzed by using Fisher's exact test,and the correspondence between high-frequency ultrasonographic and dermoscopic features of BCC was analyzed by calculating the simple matching coefficient.Results Of the 36 BCC skin lesions,4 were high-risk lesions and 32 were low-risk lesions.Ultrasonographic features of the high-risk and low-risk lesions overlapped markedly,and no significant differences were observed between the high-risk and low-risk lesions with regard to the shape,boundary,internal echo,hyperechoic spots,or posterior echo (all P ＞0.05).However,24 (75.0％) low-risk lesions were confined to the dermis,whereas 4 high-risk lesions involved the subcutaneous tissue,and there was a significant difference between the high-risk and low-risk BCC groups with regard to the distribution of BCC (P =0.008).In 5 BCC lesions,ultrasound could identify small easy-to-ignore lesions or deep and invisible lesions besides obvious lesions.There were no significant differences in dermoscopic features between high-risk and low-risk groups.However,none of spoke-wheel area,milky-red structureless area,milia-like cysts,comedo-like openings and rainbow pattern was observed in 4 high-risk BCC lesions.The simple matching coefficient between enhanced hyperechoic spots in the lesion observed by ultrasound and milia-like cysts under a dermoscope was 36.1％,and the simple matching coefficient between discontinuous hyperechoic echo in the epidermis on ultrasonography and ulcer/erosion under a dermoscope was 75.0％.Conclusion High-frequency ultrasound and dermoscopy both provide important information for preoperative evaluation of risk of BCC lesions,and high-frequency ultrasound can identify easy-to-ignore hidden lesions in clinical practice.

Application of high-frequency ultrasound and dermoscopy in precise preoperative evaluation of basal cell carcinoma / 中华皮肤科杂志

Objective@#To evaluate the application value of ultrasound and dermoscopy in the precise preoperative evaluation of basal cell carcinoma (BCC) , and to analyze the association of high-frequency ultrasound and dermoscopic findings with pathological recurrence risk of BCC.@*Methods@#Clinical data were collected from 33 outpatients with confirmed BCC in the Department of Dermatology, Peking Union Medical College Hospital between April 2016 and December 2018, and high-frequency ultrasonographic and dermoscopic findings from 36 BCC lesions were analyzed. The lesions were classified into high-risk and low-risk groups based on pathological findings. Statistical differences in ultrasound and dermoscopic characteristics between high-risk and low-risk BCC groups were analyzed by using Fisher′s exact test, and the correspondence between high-frequency ultrasonographic and dermoscopic features of BCC was analyzed by calculating the simple matching coefficient.@*Results@#Of the 36 BCC skin lesions, 4 were high-risk lesions and 32 were low-risk lesions. Ultrasonographic features of the high-risk and low-risk lesions overlapped markedly, and no significant differences were observed between the high-risk and low-risk lesions with regard to the shape, boundary, internal echo, hyperechoic spots, or posterior echo (all P > 0.05) . However, 24 (75.0%) low-risk lesions were confined to the dermis, whereas 4 high-risk lesions involved the subcutaneous tissue, and there was a significant difference between the high-risk and low-risk BCC groups with regard to the distribution of BCC (P = 0.008) . In 5 BCC lesions, ultrasound could identify small easy-to-ignore lesions or deep and invisible lesions besides obvious lesions. There were no significant differences in dermoscopic features between high-risk and low-risk groups. However, none of spoke-wheel area, milky-red structureless area, milia-like cysts, comedo-like openings and rainbow pattern was observed in 4 high-risk BCC lesions. The simple matching coefficient between enhanced hyperechoic spots in the lesion observed by ultrasound and milia-like cysts under a dermoscope was 36.1%, and the simple matching coefficient between discontinuous hyperechoic echo in the epidermis on ultrasonography and ulcer/erosion under a dermoscope was 75.0%.@*Conclusion@#High-frequency ultrasound and dermoscopy both provide important information for preoperative evaluation of risk of BCC lesions, and high-frequency ultrasound can identify easy-to-ignore hidden lesions in clinical practice.

Prospective observation of early diagnosis and accurate diagnosis of invasive mole by transvaginal ultrasound / 中华医学超声杂志（电子版）

Objective To explore the characteristics of sonographic patterns of invasive mole (IM),observe specific ultrasonic signs and provide more evidences for early and precise diagnosis of IM.Methods Twenty patients diagnosed with IM at the PUMC Hospital from 2014 January to 2016 January were evaluated by transvaginal ultrasonography.These sonographic dynamic images were observed comprehensively and carefully in order to discover the early ultrasound characteristics and specific ultrasonic representations of IM.Results It was indicated by transvaginal ultrasonography that there were myometrial lesions in 4 patients with diameters less than 2.0 cm,performing as heteroechoic lesions in myometrium with obviously increased and disorder blood flow signals after the curettage of uterine cavity.Meanwhile,the myometrial lesions of 8 patients showed hydropic fluid-filled molar vesicles,representing swollen villi.Conclusions After the curettage of uterine cavity,presentations of the myometrial lesions with abnormally rich blood flow contribute to early diagnosis of IM.And the patterns of myometrial hydropic fluid-filled molar vesicles can play an important role in the accurate diagnosis of IM,and may distinguish it from choriocarcinoma.

Diagnosis and differential diagnosis of bladder leiomyoma on sonography / 中华医学超声杂志（电子版）

Objective Bladder leiomyoma is a rare type of benign bladder tumors.Because of the lack of knowledge about the ultrasonic pattems of this kind of disease,misdiagnosis frequently happens.Through reviewing the cases and relevant researches,we are able to understand the disease and figure it out in ultrasonic images.Methods Seventeen cases of patients with bladder leiomyoma were reviewed which were hospitalized in Peking Union Medical College Hospital during 2000 to 2016.All of the patients underwent ultrasound examinations before surgery.Transvaginal ultrasound was performed in 2 cases.And the diagnosis of each patient was confirmed by pathologic findings.Results In 14 Submucous leiomyomacases,hypoechoic mass with broad base was found in the bladder,circumscribed by a hyperechoic line,merging with mucous layer of the bladder.Circular shape was found in 6 cases,elliptical shape was in 9 cases,and 2 were lobulated.Blood signals were detected in 9 cases,while 8 cases showed no signals.Abundant regular blood flow was visualized in the 2 cases of transvaginal examinations.Conclusions There are some specific characteristics of bladder leiomyoma in ultrasound images,such as elliptical shape,hypoechoic mass with broad base,circumscribed by a hyperechoic line,merging with mucous layer of the bladder,thus it can be diagnosed before surgery by ultrasonography.Moreover,transvaginal ultrasound can provide more information for diagnosis and treatment planning of bladder leiomyoma,playing an important role in the diagnosis of bladder neoplasms.