Objective:To investigate a new method for rapid detection of the MYOD1 L122R mutation and to analyze the clinical and pathological characteristics of mutation-positive rhabdomyosarcoma.Methods:A MYOD1 mutation detection kit was developed using allele-specific Taqman fluorescence probe technology. A total of 80 rhabdomyosarcoma samples diagnosed at Beijing Children′s Hospital, Capital Medical University from June 2022 to June 2023 were collected for testing. The detection sensitivity, specificity, and consistency rate of the kit were compared with those of the gold standard Sanger sequencing. The demographic, histopathological, and molecular genetic characteristics of patients with MYOD1 mutations were analyzed.Results:Among the 80 rhabdomyosarcoma cases, there were 46 males and 34 females, with an age of onset ranging from 0 to 16 years [mean (6.0±4.4) years], including 32 embryonal rhabdomyosarcoma, 18 alveolar rhabdomyosarcoma, and 30 spindle cell/sclerosing rhabdomyosarcoma. The new kit screened a total of 11 mutations, of which 10 were spindle cell/sclerosing rhabdomyosarcoma and one was embryonal rhabdomyosarcoma. Patients with MYOD1 mutations were typically older (four cases over 10 years old) but could also occur in young children (the youngest being 3-year and 2-month-old). The primary sites were the head and neck region in eight cases, limbs in two cases, and pelvic cavity in one case. Among the six patients with available staging information at initial diagnosis, one was classified as stage 2 and five were stage 3, all of which were intermediate risk. Among the 11 mutation patients, six had recurrence and metastasis, with three deaths; the remaining patients had not shown tumor progression until last follow-up. Compared with the wild type group, the expression level of MYOD1 in mutation patients increased significantly ( χ2=10.66, P=0.01), while the event-free survival rate ( χ2=9.925, P<0.01) and overall survival ( χ2=4.53, P=0.03) rate decreased. Compared with Sanger sequencing, the kit achieved 100% sensitivity and specificity. The kit had a minimum mutation content detection limit of 2% and the reaction could be finished within 2 hours. Additionally, this kit might also be used to detect the expression of MYOD1, thereby aiding the diagnosis of rhabdomyosarcoma. Conclusions:The study has established a new method for accurate and rapid detection of MYOD1 mutation in rhabdomyosarcoma, particularly suitable for the formalin-fixed and paraffin-embedded samples in clinical settings. MYOD1 mutations more likely occur in spindle cell/sclerosing rhabdomyosarcoma of the head and neck region in children. Patients with MYOD1 mutations have an extremely poor prognosis, which is independent of clinical staging and grading. MYOD1 mutation detection in rhabdomyosarcoma has significant value for auxiliary diagnosis and prognostic assessment.

Immune checkpoint inhibitor-associated enterocolitis is an immune-related adverse reaction during tumor treatment with immune checkpoint inhibitors.In this article,we present the clinical data and ultrasound manifestations of a patient with immune checkpoint inhibitor-associated enterocolitis,aiming to share diagnostic and therapeutic insights.
Humans ; Immune Checkpoint Inhibitors/adverse effects* ; Enterocolitis/chemically induced* ; Ultrasonography ; Male

Objective:To explore the safety and efficacy of intrasaccular flow disruptor in intracranial aneurysms, including wide-necked aneurysms.Methods:A retrospective analysis was performed; 102 patients with intracranial aneurysms treated with intrasaccular flow disruptor at Department of Neurointervention, First Affiliated Hospital of Zhengzhou University from August 2022 to November 2024 were enrolled; their clinical and imaging data were collected. The aneurysm characteristics and perioperative complications were summarized; aneurysm occlusion was evaluated by Woven EndoBridge occlusion scale (WOS) immediately after surgery and during the follow-up period.Results:Among the 102 aneurysms, 33 were anterior cerebral artery aneurysms, 40 were middle cerebral artery aneurysms, 17 were internal carotid artery aneurysms and 12 were basilar artery aneurysms; 73 aneurysms were regular intracranial saccular aneurysms and 29 were irregular saccular ones (17 of them with daughter sacs); 12 aneurysms were ruptured at acute phase. The surgical success rate was 100%: single intrasaccular flow disruptor was implanted into 95 patients, and stent-assisted or salvage treatments were given to 7 patients). Immediately after surgery, WOS grading A was noted in 5 patients, grading B in 7, grading C in 31, and grading D in 59. Two patients suffered severe perioperative complications and passed away: one patient died for ischemic complications that ensued after stent salvage treatment (parent artery being compressed by intrasaccular flow disruptor); the other patient died for hemorrhagic complications triggered by rupture of an initially unruptured aneurysm following intrasaccular flow disruptor implantation. Among them, 52 patients completed postoperative DSA follow-up, with a median follow-up of 205 (168, 292) days; WOS grading A was noted in 31 patients, grading B in 9, grading C in 8, and grading D in 4 at the last follow-up; the full occlusion rate was 92.3%, and no ischemic or hemorrhagic adverse events occurred.Conclusion:Intrasaccular flow disruptor shows high short-term safety and good efficacy in the treatment of intracranial aneurysms.

Objective:To evaluate the efficacy and safety of intrasaccular flow disruptor in wide-necked intracranial aneurysms.Methods:One hundred and seventeen patients with wide-necked intracranial aneurysms treated with intrasaccular flow disruptor were collected from Department of Neurointervention (First Affiliated Hospital of Zhengzhou University), Department of Neurosurgery (Beijing Tiantan Hospital, Capital Medical University), Department of Cerebrovascular Surgery, Neurosurgery Center (Zhujiang Hospital, Southern Medical University), and Department of Neurosurgery (First Affiliated Hospital of Harbin Medical University) from August 2022 to March 2024. Raymond-Roy Occlusion Classification (RROC) was employed to evaluate aneurysm embolization immediately after procedure; cranial CT or MRI within 48 hours of embolization were performed to identify any new intracranial hemorrhage, subarachnoid hemorrhage, or new symptomatic cerebral infarction related to the intracranial aneurysms. Modified Rankin Scale (mRS) was used to assess the neurological function at discharge. Imaging follow-up and outpatient follow-up were performed at 6 months after embolization to evaluate the aneurysm occlusion degree and complications.Results:A total of 117 intrasaccular flow disruptors were implanted in 117 patients, with a technical success rate of 100%; 115 patients (98.3%) enjoyed successful one-time release of their disruptors, and 2 patients (1.7%) required retrieval and redirection of the disruptors before second successful attempt. Flow disruptor plus stent was performed in 13 patients (11.1%). Immediately after procedure, RROC grading I was noted in 3 patients, grading II in 51 patients and grading III in 63 patients. Cranial CT or MRI within 48 hours of embolization indicated no new intracranial hemorrhage, subarachnoid hemorrhage, or symptomatic cerebral infarction related to the intracranial aneurysms. All patients had mRS score of 0 at discharge. Eighty-three patients completed a 6-month follow-up (RROC grading I in 41 patients, grading II in 33 patients and grading III in 9 patients), without ischemic or hemorrhagic adverse events.Conclusion:The results of this study preliminarily suggest that intrasaccular flow disruptor is effective and safe in wide-necked intracranial aneurysms.

Objective:To evaluate the efficacy and safety of Neuroform Atlas stent-assisted coil embolization in patients with middle cerebral artery bifurcation aneurysms.Methods:A retrospective analysis was performed; the clinical data of 46 patients with middle cerebral artery bifurcation aneurysms accepted Neuroform Atlas stent-assisted coil embolization in First Affiliated Hospital of Zhengzhou University, Beijing Tiantan Hospital Affiliated to Capital Medical University, First Affiliated Hospital of Harbin Medical University, Zhujiang Hospital of Southern Medical University and First Affiliated Hospital of Chongqing Medical University from January 2022 to March 2024 were collected. There were 28 ruptured aneurysms (60.87%) and 18 unruptured aneurysms (39.13%). Follow-up was performed for more than 3 months; Raymond-Roy grading was used to evaluate the aneurysm embolization immediately after embolization and during follow-up; perioperative hemorrhagic or ischemic complications were recorded; modified Rankin Scale (mRS) was used to evaluate the prognosis of the patients at discharge and during follow-up (mRS score≤2: good prognosis, and mRS score>2: poor prognosis).Results:Coil embolization was successful in all 46 patients. DSA immediately after embolization showed that 41 patients (89.13%) had completely occluded aneurysms (Raymond-Roy grading I), 2 patients (4.35%) had residual aneurysm neck (Raymond-Roy grading Ⅱ) and 3 patients (6.52%) had partially occluded aneurysms (Raymond-Roy grading Ⅲ). Perioperative complications occurred in 5 patients, including 2 with postoperative cerebral infarction, 1 with hydrocephalus, 1 with postoperative pneumonia leading to respiratory failure, and 1 with stent thrombosis during embolization. Both at discharge and 3 months after embolization, 43 patients (93.48%) had good prognosis and 3 patients (6.52%) had poor prognosis. No obvious ischemic complications (such as stent restenosis) or hemorrhagic complications (such as re-rupture of the aneurysms) were found in all patients. Thirty patients (65.22%) had imaging follow-up for 6-12 months: 26 (86.67%) had Raymond-Roy grading I, 3 (10.00%) had Raymond-Roy grading II, and 1 (3.33%) had Raymond-Roy grading III.Conclusion:Neuroform Atlas stent-assisted coil embolization has good short-term efficacy and high safety in middle cerebral artery bifurcation aneurysms, but long-term follow-up observation is still needed to verify its efficacy.

Objective To explore the feasibility of using the left inferior phrenic vein as an anatomical landmark and prioritizing the dissection of the central adrenal vein in retroperitoneal laparoscopic left adrenalectomy(RLLA).Methods 116 patients who had RLLA carried out in our hospital between January 2021 and December 2023 were chosen.They were separated into the experimental group(RLLA with the left inferior phrenic vein as an anatomical landmark and prioritizing the dissection of the central adrenal vein)and the control group[conventional three-layer method anatomic retroperitoneal laparoscopic adrenalectomy(RLA)],with 58 cases in each group.The clinical data of the two groups were compared,and the intraoperative and postoperative 24 h clinical indicators,stress indicators,immune function,and complications were evaluated.Results RLLA was successfully completed in two groups,and no cases were converted to open surgery.The operation time,time for searching the central vein,retention time of the drainage tube and postoperative hospital stay in the experimental group were significantly shorter than those in the control group.The intraoperative blood loss and postoperative drainage volume were significantly less than those in the control group,the differences were all statistically significant(P<0.05);There was no statistically significant difference in the recovery time of gastrointestinal function between the two groups of patients after surgery(P>0.05).There were no statistically significant differences in preoperative inflammatory factors,stress indicators and immune function indicators between the two groups of patients(P>0.05).The white blood cell(WBC),C-reaction protein(CRP)and interleukin-6(IL-6)of the two groups of patients 24 hours after the operation were significantly higher than those before the operation,but the experimental group was significantly lower than the control group,the differences were statistically significant(P<0.05).The malondialdehyde(MDA)of the two groups of patients 24 hours after the operation was significantly higher than that before the operation,while the superoxide dismutase(SOD)and glutathione peroxidase(GSH-Px)were significantly lower than those before the operation,and the MDA in the experimental group was significantly lower than that in the control group,and the SOD and GSH-Px were significantly higher than those in the control group(P<0.05).The levels of CD4+and CD4+/CD8+in experimental groups of patients 24 hours after the operation were significantly decreased than those before the operation,and the levels of CD3+,CD4+and CD4+/CD8+in the experimental group were significantly higher than those in the control group.The differences were statistically significant(P<0.05).There was no statistically significant difference in CD8+between the two groups of patients 24 hours after surgery(P>0.05).The number of cases with intraoperative blood pressure fluctuations in the experimental group was significantly lower than that in the control group,the difference was statistically significant(P<0.05).Neither peritoneal injury,renal pedicle vascular injury or retroperitoneal hematoma occurred during or after the operation in the two groups of patients.Conclusion In RLLA,using the left inferior phrenic vein as an anatomical landmark and prioritizing the dissection of the central adrenal vein is feasible,which can improve surgical indicators,reduce stress response and immune response,and have clinical application value.

Objective To explore the feasibility of using the left inferior phrenic vein as an anatomical landmark and prioritizing the dissection of the central adrenal vein in retroperitoneal laparoscopic left adrenalectomy(RLLA).Methods 116 patients who had RLLA carried out in our hospital between January 2021 and December 2023 were chosen.They were separated into the experimental group(RLLA with the left inferior phrenic vein as an anatomical landmark and prioritizing the dissection of the central adrenal vein)and the control group[conventional three-layer method anatomic retroperitoneal laparoscopic adrenalectomy(RLA)],with 58 cases in each group.The clinical data of the two groups were compared,and the intraoperative and postoperative 24 h clinical indicators,stress indicators,immune function,and complications were evaluated.Results RLLA was successfully completed in two groups,and no cases were converted to open surgery.The operation time,time for searching the central vein,retention time of the drainage tube and postoperative hospital stay in the experimental group were significantly shorter than those in the control group.The intraoperative blood loss and postoperative drainage volume were significantly less than those in the control group,the differences were all statistically significant(P<0.05);There was no statistically significant difference in the recovery time of gastrointestinal function between the two groups of patients after surgery(P>0.05).There were no statistically significant differences in preoperative inflammatory factors,stress indicators and immune function indicators between the two groups of patients(P>0.05).The white blood cell(WBC),C-reaction protein(CRP)and interleukin-6(IL-6)of the two groups of patients 24 hours after the operation were significantly higher than those before the operation,but the experimental group was significantly lower than the control group,the differences were statistically significant(P<0.05).The malondialdehyde(MDA)of the two groups of patients 24 hours after the operation was significantly higher than that before the operation,while the superoxide dismutase(SOD)and glutathione peroxidase(GSH-Px)were significantly lower than those before the operation,and the MDA in the experimental group was significantly lower than that in the control group,and the SOD and GSH-Px were significantly higher than those in the control group(P<0.05).The levels of CD4+and CD4+/CD8+in experimental groups of patients 24 hours after the operation were significantly decreased than those before the operation,and the levels of CD3+,CD4+and CD4+/CD8+in the experimental group were significantly higher than those in the control group.The differences were statistically significant(P<0.05).There was no statistically significant difference in CD8+between the two groups of patients 24 hours after surgery(P>0.05).The number of cases with intraoperative blood pressure fluctuations in the experimental group was significantly lower than that in the control group,the difference was statistically significant(P<0.05).Neither peritoneal injury,renal pedicle vascular injury or retroperitoneal hematoma occurred during or after the operation in the two groups of patients.Conclusion In RLLA,using the left inferior phrenic vein as an anatomical landmark and prioritizing the dissection of the central adrenal vein is feasible,which can improve surgical indicators,reduce stress response and immune response,and have clinical application value.

Objective To explore the relationship between serum CysC,KIM-1 and acute kidney injury(AKI)and prognosis in patients with renal cell carcinoma after laparoscopic nephron sparing surgery(LNSS).Methods A total of 62 patients with renal cell carcinoma who underwent LNSS in our hospital were collected.Serum CysC and KIM-1 levels were detected by immunoturbidimetry and enzyme-linked immunosorbent assay,respectively.According to whether AKI occurred and recurrence after surgery,the patients were divided into the non-AKI group(n=34)and AKI group(n=28),as well as the good prognosis group(n=45)and poor prognosis group(n=17).Univariate and multivariate Logistic regression were used to analyze the influencing factors of AKI and poor prognosis.The predictive value of CysC and KIM-1 for AKI and poor prognosis was analyzed by the receiver operating characteristic(ROC)curve.Results There were significant differences in gender,hypertension,diabetes,operation time,glomerular filtration rate(GFR),renal artery occlusion time and KIM-1 level between the non-AKI group and AKI group(P＜0.05).There were significant differences in tumor diameter,grade,lymph node metastasis,CysC and KIM-1 level between the good prognosis group and poor prognosis group(P＜0.05).Multivariate Logistic regression showed that gender,diabetes,GFR,renal artery occlusion time and KIM-1 level were independ-ent risk factors for AKI while GFR was an independent protective factor for AKI(P＜0.05);tumor diameter,serum CysC and KIM-1 level were independent risk factors for poor prognosis(P＜0.05).ROC curve analysis showed that the area under the curve(AUC)of KIM-1 for predicting AKI was 0.687;The AUC of CysC and KIM-1 for predicting poor prognosis were 0.829 and 0.871,respectively.Conclusion Serum KIM-1 is an independent risk factor for AKI after LNSS in patients with renal cell carcinoma,and serum CysC and KIM-1 are independent risk factors for poor prognosis.

Objective:To investigate the treatment regimens, therapeutic effects, and adverse events of immune checkpoint inhibitors (ICI) in the treatment of progressive multifocal leukoencephalopathy (PML).Methods:A retrospective analysis was performed on patients with PML who received ICI treatment at the Department of Neurology of Peking Union Medical College Hospital from October 2020 to September 2024. The patients′ demographic characteristics, baseline immune status, clinical manifestations, laboratory tests, treatment regimens, and clinical outcomes were analyzed.Results:A total of 2 male patients with PML, aged 40 and 59 years, received ICI treatment. One patient had underlying combined immunodeficiency, while the other had acute myeloid leukemia subtype M2 and had previously undergone umbilical cord blood stem cell transplantation. Both patients were treated with pembrolizumab (dosage range: 2-3 mg/kg, administered every 3-4 weeks), receiving a total of 2-4 courses of treatment. In terms of therapeutic effects, both patients showed significant improvement. Regarding adverse events, 1 patient experienced immune-related adverse event (irAE) of immune-related pneumonia combined with immune-related hypophysitis.Conclusions:ICI may be an effective treatment option for PML. However, the use of ICI may be accompanied by the occurrence of irAE, necessitating close monitoring during treatment.

Objective To explore the relationship between serum CysC,KIM-1 and acute kidney injury(AKI)and prognosis in patients with renal cell carcinoma after laparoscopic nephron sparing surgery(LNSS).Methods A total of 62 patients with renal cell carcinoma who underwent LNSS in our hospital were collected.Serum CysC and KIM-1 levels were detected by immunoturbidimetry and enzyme-linked immunosorbent assay,respectively.According to whether AKI occurred and recurrence after surgery,the patients were divided into the non-AKI group(n=34)and AKI group(n=28),as well as the good prognosis group(n=45)and poor prognosis group(n=17).Univariate and multivariate Logistic regression were used to analyze the influencing factors of AKI and poor prognosis.The predictive value of CysC and KIM-1 for AKI and poor prognosis was analyzed by the receiver operating characteristic(ROC)curve.Results There were significant differences in gender,hypertension,diabetes,operation time,glomerular filtration rate(GFR),renal artery occlusion time and KIM-1 level between the non-AKI group and AKI group(P＜0.05).There were significant differences in tumor diameter,grade,lymph node metastasis,CysC and KIM-1 level between the good prognosis group and poor prognosis group(P＜0.05).Multivariate Logistic regression showed that gender,diabetes,GFR,renal artery occlusion time and KIM-1 level were independ-ent risk factors for AKI while GFR was an independent protective factor for AKI(P＜0.05);tumor diameter,serum CysC and KIM-1 level were independent risk factors for poor prognosis(P＜0.05).ROC curve analysis showed that the area under the curve(AUC)of KIM-1 for predicting AKI was 0.687;The AUC of CysC and KIM-1 for predicting poor prognosis were 0.829 and 0.871,respectively.Conclusion Serum KIM-1 is an independent risk factor for AKI after LNSS in patients with renal cell carcinoma,and serum CysC and KIM-1 are independent risk factors for poor prognosis.