OBJECTIVES: To investigate the genomic characteristics and prognostic factors of juvenile myelomonocytic leukemia (JMML) with RAS mutations. METHODS: A retrospective analysis was conducted on the clinical data of JMML children with RAS mutations treated at the Hematology Hospital of Chinese Academy of Medical Sciences, from January 2008 to November 2022. RESULTS: A total of 34 children were included, with 17 cases (50%) having isolated NRAS mutations, 9 cases (27%) having isolated KRAS mutations, and 8 cases (24%) having compound mutations. Compared to children with isolated NRAS mutations, those with NRAS compound mutations showed statistically significant differences in age at onset, platelet count, and fetal hemoglobin proportion (P<0.05). Cox proportional hazards regression model analysis revealed that hematopoietic stem cell transplantation (HSCT) and hepatomegaly (≥2 cm below the costal margin) were factors affecting the survival rate of JMML children with RAS mutations (P<0.05); hepatomegaly was a factor affecting survival in the non-HSCT group (P<0.05). CONCLUSIONS Children with NRAS compound mutations have a later onset age compared to those with isolated NRAS mutations. At initial diagnosis, children with NRAS compound mutations have poorer peripheral platelet and fetal hemoglobin levels than those with isolated NRAS mutations. Liver size at initial diagnosis is related to the prognosis of JMML children with RAS mutations. HSCT can improve the prognosis of JMML children with RAS mutations.
Humans ; Leukemia, Myelomonocytic, Juvenile/therapy* ; Mutation ; Male ; Female ; Child, Preschool ; Retrospective Studies ; Child ; Infant ; GTP Phosphohydrolases/genetics* ; Membrane Proteins/genetics* ; Adolescent ; Hematopoietic Stem Cell Transplantation ; Proportional Hazards Models ; Proto-Oncogene Proteins p21(ras)/genetics* ; Prognosis

Hepatocellular carcinoma (HCC) expresses abundant glycolytic enzymes and displays comprehensive glucose metabolism reprogramming. Aldolase A (ALDOA) plays a prominent role in glycolysis; however, little is known about its role in HCC development. In the present study, we aim to explore how ALDOA is involved in HCC proliferation. HCC proliferation was markedly suppressed both in vitro and in vivo following ALDOA knockout, which is consistent with ALDOA overexpression encouraging HCC proliferation. Mechanistically, ALDOA knockout partially limits the glycolytic flux in HCC cells. Meanwhile, ALDOA translocated to nuclei and directly interacted with c-Jun to facilitate its Thr93 phosphorylation by P21-activated protein kinase; ALDOA knockout markedly diminished c-Jun Thr93 phosphorylation and then dampened c-Jun transcription function. A crucial site Y364 mutation in ALDOA disrupted its interaction with c-Jun, and Y364S ALDOA expression failed to rescue cell proliferation in ALDOA deletion cells. In HCC patients, the expression level of ALDOA was correlated with the phosphorylation level of c-Jun (Thr93) and poor prognosis. Remarkably, hepatic ALDOA was significantly upregulated in the promotion and progression stages of diethylnitrosamine-induced HCC models, and the knockdown of A ldoa strikingly decreased HCC development in vivo. Our study demonstrated that ALDOA is a vital driver for HCC development by activating c-Jun-mediated oncogene transcription, opening additional avenues for anti-cancer therapies.

Perioperative protection of parathyroid function is the focus and difficulty of thyroid surgery and also a problem that surgeons must pay attention to. It can be divided into three stages: preoperative management, intraoperative management, and postoperative management. Preoperative management mainly evaluates thyroid and parathyroid function and timely and effective treatment plan adjustment when functional abnormalities are found. Intraoperative management includes identifying and protecting the parathyroid gland, assessing and protecting parathyroid blood flow, etc. Postoperative management includes assessment of postoperative parathyroid function, effective treatment, and follow-up. Among them, intraoperative management is the key. Familiarity with the anatomical structure is the basis of parathyroid function protection, and visual recognition is an essential skill. Secondly, reasonable selection of surgical methods and application of fine membrane dissection technology can avoid the collateral damage of energy instruments to the parathyroid gland and nourishing blood vessels, and finally, timely use of autologous transplantation technology. Using assistive techniques such as imaging can help accurately locate the parathyroid gland and assess its blood flow before surgery. Preoperative localization is even more critical for hyperparathyroidism due to the non-uniqueness and uncertainty of the location of the diseased glands. The objective of treatment is to remove the diseased parathyroid glands and protect normal parathyroid tissue. To standardize the functional protection of parathyroid gland during the perioperative period, domestic guidelines and expert consensus have proposed the "1+X" basic principle and the "1+X+1" general strategy of parathyroid gland protection, guiding to help reduce the incidence of parathyroid injury during thyroid surgery.

Objective:To investigate the current status of endoscopic treatment for gastroesophageal varices in portal hypertension in China, and to provide supporting data and reference for the development of endoscopic treatment.Methods:In this study, initiated by the Liver Health Consortium in China (CHESS), a questionnaire was designed and distributed online to investigate the basic condition of endoscopic treatment for gastroesophageal varices in portal hypertension in 2022 in China. Questions included annual number and indication of endoscopic procedures, adherence to guideline for preventing esophagogastric variceal bleeding (EGVB), management and timing of emergent EGVB, management of gastric and isolated varices, and improvement of endoscopic treatment. Proportions of hospitals concerning therapeutic choices to all participant hospitals were calculated. Guideline adherence between secondary and tertiary hospitals were compared by using Chi-square test.Results:A total of 836 hospitals from 31 provinces (anotomous regions and municipalities) participated in the survey. According to the survey, the control of acute EGVB (49.3%, 412/836) and the prevention of recurrent bleeding (38.3%, 320/836) were major indications of endoscopic treatment. For primary [non-selective β-blocker (NSBB) or endoscopic therapies] and secondary prophylaxis (NSBB and endoscopic therapies) of EGVB, adherence to domestic guideline was 72.5% (606/836) and 39.2% (328/836), respectively. There were significant differences in the adherence between secondary and tertiary hospitals in primary prophylaxis of EGVB [71.0% (495/697) VS 79.9% (111/139), χ2=4.11, P=0.033] and secondary prophylaxis of EGVB [41.6% (290/697) VS 27.3% (38/139), χ2=9.31, P=0.002]. A total of 78.2% (654/836) hospitals preferred endoscopic therapies treating acute EGVB, and endoscopic therapy was more likely to be the first choice for treating acute EGVB in tertiary hospitals (82.6%, 576/697) than secondary hospitals [56.1% (78/139), χ2=46.33, P<0.001]. The optimal timing was usually within 12 hours (48.5%, 317/654) and 12-24 hours (36.9%, 241/654) after the bleeding. Regarding the management of gastroesophageal varices type 2 and isolated gastric varices type 1, most hospitals used cyanoacrylate injection in combination with sclerotherapy [48.2% (403/836) and 29.9% (250/836), respectively], but substantial proportions of hospitals preferred clip-assisted therapies [12.4% (104/836) and 26.4% (221/836), respectively]. Improving the skills of endoscopic doctors (84.2%, 704/836), and enhancing the precision of pre-procedure evaluation and quality of multidisciplinary team (78.9%, 660/836) were considered urgent needs in the development of endoscopic treatment. Conclusion:A variety of endoscopic treatments for gastroesophageal varices in portal hypertension are implemented nationwide. Participant hospitals are active to perform emergent endoscopy for acute EGVB, but are inadequate in following recommendations regarding primary and secondary prophylaxis of EGVB. Moreover, the selection of endoscopic procedures for gastric varices differs greatly among hospitals.

This study aims to review the content of information needs, influencing factors, and current support status of patients undergoing tumor immunotherapy and to provide reference for developing targeted information support strategies for these patients.

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

Humans ; Multiple Myeloma/drug therapy* ; Feasibility Studies ; Antibodies, Monoclonal/adverse effects* ; Dexamethasone/therapeutic use* ; Antineoplastic Combined Chemotherapy Protocols

Objective:To investigate the efficacy and safety of thoracic duct repair in the treatment of iatrogenic thoracic duct injury in thyroid surgery.Methods:Clinical data of 2 759 cases with lymph nodes metastasis from papillary thyroid carcinomas at two tertiary referral academic medical centers, viz. Tongji Hospital of Huazhong University of Science and Technology and Zhongnan Hospital of Wuhan University were retrospectively analyzed, of which 69 cases encountered injured thoracic duct. Thirty patients received thoracic duct ligation (ligation group) before Jun. 2016, and thirty-nine with direct suture repair of lacerated duct (repair group). Age, sex, cervical clearance surgery, lymph node dissection, lymph node metastasis, whether lymph nodes were invaded extracapsular, chest catheter injection into venous points, and operation time were recorded.Results:In the thoracic duct direct suture repair group, 39 patients with a mean age of (43.2±9.3) successfully performed intraoperative thoracic duct sutures and only one patient developed CL postoperatively. In the thoracic duct ligation group, 30 ducts with a mean age of (49.5±10.0) were successfully ligated during the operation, and 5 (16.7 %) still developed CL after operations, with the highest daily drainage volume of more than 500 ml, and the median duration of chylous leakage of 3 days. The incidence of CL in the thoracic duct direct suture repair group was significantly lower than that in the ligation group (0 vs 16.7%, P=0.013), and the length of hospital stay in the repair group was also significantly shorter (6.1 (6.0,6.5) vs 10.0 (9.0,10.0) day, Z=-7.21, P=0.014) .There was no significant difference in operation time between the two groups (110.9±8.7 vs 109.3±7.9, t=0.82, P=0.421) . Conclusion:Compared with thoracic duct ligation, thoracic duct direct suture repair in patients with intraoperative thoracic duct injury may be an effective method to reduce postoperative CL.

Objective:To investigate the effectiveness of probe-based near-infrared autofluorescence imaging (NIRAF) of the parathyroid gland.Methods:A total of 71 patients with thyroid cancer eligible for admission from May 4, 2023 to May 26, 2023 were selected, including 42 patients with thyroid cancer enrolled in the Department of Thyroid (hernia), Department of General Surgery, PLA General Hospital, including 29 females and 13 males, with a median age of 41 years, ranging from 21 to 76 years. A total of 29 patients with thyroid cancer were enrolled in the Department of Thyroid Surgery of Guangzhou First People’s Hospital, including 22 females and 7 males. The median age was 42.5 years, ranging from 24 to 72 years. The follow-up period was 1 month.Results:Among them, 196 suspicious parathyroid tissues were identified by the naked eye, and 207 suspicious parathyroid tissues were identified by probe NIRAF technology. Naked eye identification sensitivity, specificity and accuracy were 84.86%, 56% and 81.89%. The sensitivity, specificity and accuracy of parathyroid tissue identification by probe NIRAF were 92.66%, 80.00% and 90.53%, which were better than that of naked eye identification, and had a good coincidence rate with the results of immunocolloidal gold test or intraoperative freezing pathology (Kappa=0.61, P<0.001) . Conclusion:The probe-based NIRAF technique has a good ability to identify parathyroid tissue.

Objective:To assess the effectiveness of percutaneous acetabuloplasty (PA) in combination with radiotherapy for the treatment of acetabular metastases.Methods:A retrospective analysis of medical records from 43 patients with acetabular metastases admitted between May 2017 and May 2022 were performed, with 24 cases meeting inclusion criteria. The study cohort consisted of 9 males and 15 females, with an average age of 56.0 years (range: 40-85 years). There were 12 cases on the left side and 12 cases on the right side. The primary cancer types were breast cancer (8 cases, 33%), lung cancer (7 cases, 29%), prostate cancer (4 cases, 17%), bowel cancer (2 cases, 8%), cervical cancer (1 case, 4%), kidney cancer (1 case, 4%), and liver cancer (1 case, 4%). All patients had multiple bone metastases, with 16 cases (67%) also presenting with metastases in other organs. Among the bone metastases, 19 cases (79%) were osteolytic lesions, and 5 cases (21%) were mixed lesions. Lesion distribution included 11 cases in the acetabulum, 2 cases in the acetabulum and anterior column, 8 cases in the acetabulum and posterior column, and 3 cases in the acetabulum, anterior column, and posterior column. Lesion sizes ranged from 2.0 cm×1.5 cm×2.0 cm to 4.5 cm×4.0 cm×11.0 cm. Cortical defects were observed in 11 cases (46%), and soft tissue masses were present around the acetabular metastasis in 8 cases (33%). PA was performed under local or general anesthesia, followed by local radiotherapy within 1 week after surgery (external radiotherapy, 30 Gy, 10 d). Various clinical parameters, including primary lesion location, time of tumor diagnosis, time of bone metastasis diagnosis, number and nature of bone metastases, distribution area, lesion size, presence of cortical defects and soft tissue masses, presence of other organ metastases, surgical site, operation duration, filling effect, complications, visual analog scale (VAS) scores, walking scores, Eastern Cooperative Oncology Group (ECOG) scores, and long-term complications, were recorded and compared before surgery, after surgery, after radiotherapy, at 1, 3, and 6 months post-surgery, and during the last follow-up. The median follow-up period was 18 months.Results:Among the 24 patients, the procedure was successfully completed in 23 cases and failed in 1 case due to puncture needle-related complications. At the last follow-up, 92% (22/24) of patients showed no local symptom progression. VAS score, walking score, and ECOG score improved from 7.2±1.1, 1.4±1.4, 2.5±0.7 before surgery to 2.6±1.9, 2.5±1.4, 2.0±0.8 at 48 hours post-operation. There were no significant differences in scores between 48 hours post-surgery and 48 hours post-radiotherapy.Conclusion:PA can rapidly restore acetabular stability, alleviate pain, and enhance the quality of life for patients. In cases of poor response to PA, radiotherapy may not be effective, but it can effectively control local symptom progression. The combination of these two interventions can yield satisfactory clinical outcomes for patients with acetabular metastases.