Objective To observe the efficacy of percutaneous vertebroplasty(PVP)combined with microwave ablation(MWA)for treating vertebral compression fractures(VCF)caused by metastatic cancer.Methods Totally 112 patients with VCF caused by metastatic cancer were retrospectively enrolled,including 77 cases(105 vertebrae)underwent MWA+PVP(group A)and 35 cases(68 vertebrae)who underwent PVP alone(group B).The success rates of the treatments were recorded,and complications were observed.Visual analogue scale(VAS)score of pain,daily morphine consumption(DMC)and Oswestry disability index(ODI)of patients were compared within and between groups after treatments,and local tumor recurrence rates after treatment were observed.Results The success rates of MWA and PVP were both 100%.After treatments,bone cement leakage occurred in 12 cases(12/77,15.58%)in group A and 19 cases(19/35,54.29%)in group B,in group A was lower than in group B(P＜0.001).No other complications occurred.One week and 1,3 and 6 months after treatments,VAS scores of pain,DMC and ODI in group A and B were all lower than those before treatments(all P＜0.001).Three and 6 months after treatments,VAS scores of pain in group A were lower than those in group B(both P＜0.01),while 6 months after treatments,DMC and ODI in group A were lower than those in group B(both P＜0.01).No significant difference of VAS scores of pain,DMC nor ODI was found between groups at the other time points(all P＞0.05).Six months after treatments,local tumor recurrence rate in lesions in group A(17.14%,18/105)was significantly lower than that in group B(32.35%,22/68)(P=0.020).Conclusion For treating VCF caused by metastatic cancer,PVP combined with MWA could reduce incidence of complications,prolong pain relief time and bring better short-term local tumor control effect.

Pancreatic cancer is highly malignant and difficult to treat. The implantation of radioactive seed has opened up a new treatment option for pancreatic cancer. Although the implantation of radioactive seed in the treatment of pancreatic cancer has achieved good results, due to the special anatomical location of pancreatic cancer and the dense distribution of important tissues and organs around the tumor, the operation of seed implantation for pancreatic cancer has become a clinical treatment challenge. We applied the method of 3D printing template navigation and constraining the direction of the puncture needle. The puncture needle followed the safe puncture path designed in the preoperative treatment planning system, effectively avoiding important tissues and organs, and implanted radioactive seeds in the tumor. The operation of seed implantation was simplified, homogenized and made safe. In this group of cases, the proportion of successful particle implantation using 3D printing template navigation was 89.5%. All cases met the preoperative treatment plan in postoperative dose verification and achieved the purpose of radioactive seed implantation treatment.

Objective:To explore the clinical and genetic characteristics of X-linked intellectual disability associated with HUWE1 gene variants.Methods:A cases series study retrospectively analyzed the clinical data of 6 children with HUWE1 gene variants. The children were identified from the Third Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Henan University of Chinese Medicine, and Guangzhou Women and Children′s Medical Center of Guangzhou Medical University between April 2021 and July 2023.The data included sex, age, dysmorphic features, intellectual and motor development, seizure history, neuroimaging findings, family history, and genetic results was analyzed.Results:A total of 6 children, including 5 boys and 1 girl. The age of onset ranged from 1 day to 3 years. All children presented with varying degrees of intellectual disability, with or without motor developmental delay. Dysmorphic features were observed in 4 children, including microcephaly in 3 children. Short stature were observed in 3 children. One child was diagnosed with autism spectrum disorders and 1 child had seizures. Two boys had relevant maternal family histories of febrile seizures and mild intellectual disability, respectively. Abnormal neuroimaging findings were presented in 4 children, including cerebral dysplasia (1 child), prominent supratentorial ventricles (1 child), and mild white matter demyelination (2 children). Whole-exome sequencing identified 5 missense variants and 1 in-frame deletion variant. Five variants were novel and previously unreported (c.12290C>T, c.12701T>C, c.9875C>T, c.9641A>T and c.10313_10315del). The variants in 4 boys were maternally inherited, while the remaining 2 children had de novo variants. The child with the in-frame deletion variant (c.10313_10315del) presented with the most severe phenotype, exhibiting symptoms from 1 day of age, absent cognitive development, feeding difficulties, and congenital laryngeal chondrodysplasia. He was lost to follow-up at 3 months of age after treatment was withdrawn. The age at the last follow-up for the remaining 5 children ranged from 2 years and 10 months to 17 years. A boy with seizures died at 2 years and 10 months of age. The remaining 4 children were able to walk independently at the last follow-up, although their developmental progress was slow. Conclusions:HUWE1 gene related X-linked intellectual disability is characterized by varying degrees of developmental delay and intellectual disability, frequently accompanied by microcephaly, short stature, and occasionally by seizures and autism spectrum disorders. Missense variants are more common and the in-frame deletion variant appears to be associated with a particularly severe phenotypic presentation.

Pancreatic cancer is highly malignant and difficult to treat. The implantation of radioactive seed has opened up a new treatment option for pancreatic cancer. Although the implantation of radioactive seed in the treatment of pancreatic cancer has achieved good results, due to the special anatomical location of pancreatic cancer and the dense distribution of important tissues and organs around the tumor, the operation of seed implantation for pancreatic cancer has become a clinical treatment challenge. We applied the method of 3D printing template navigation and constraining the direction of the puncture needle. The puncture needle followed the safe puncture path designed in the preoperative treatment planning system, effectively avoiding important tissues and organs, and implanted radioactive seeds in the tumor. The operation of seed implantation was simplified, homogenized and made safe. In this group of cases, the proportion of successful particle implantation using 3D printing template navigation was 89.5%. All cases met the preoperative treatment plan in postoperative dose verification and achieved the purpose of radioactive seed implantation treatment.

Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by persistent inflammation and joint damage, accompanied by the accumulation of plasma cells, which contributes to its pathogenesis. Understanding the genetic alterations occurring during plasma cell differentiation in RA can deepen our comprehension of its pathogenesis and guide the development of targeted therapeutic interventions. Here, our study elucidates the intricate molecular mechanisms underlying plasma cell differentiation by demonstrating that PRDX1 interacts with DOK3 and modulates its degradation by the autophagy-lysosome pathway. This interaction results in the inhibition of plasma cell differentiation, thereby alleviating the progression of collagen-induced arthritis. Additionally, our investigation identifies Salvianolic acid B (SAB) as a potent small molecular glue-like compound that enhances the interaction between PRDX1 and DOK3, consequently impeding the progression of collagen-induced arthritis by inhibiting plasma cell differentiation. Collectively, these findings underscore the therapeutic potential of developing chemical stabilizers for the PRDX1-DOK3 complex in suppressing plasma cell differentiation for RA treatment and establish a theoretical basis for targeting PRDX1-protein interactions as specific therapeutic targets in various diseases.

Objective To observe the efficacy of percutaneous vertebroplasty(PVP)combined with microwave ablation(MWA)for treating vertebral compression fractures(VCF)caused by metastatic cancer.Methods Totally 112 patients with VCF caused by metastatic cancer were retrospectively enrolled,including 77 cases(105 vertebrae)underwent MWA+PVP(group A)and 35 cases(68 vertebrae)who underwent PVP alone(group B).The success rates of the treatments were recorded,and complications were observed.Visual analogue scale(VAS)score of pain,daily morphine consumption(DMC)and Oswestry disability index(ODI)of patients were compared within and between groups after treatments,and local tumor recurrence rates after treatment were observed.Results The success rates of MWA and PVP were both 100%.After treatments,bone cement leakage occurred in 12 cases(12/77,15.58%)in group A and 19 cases(19/35,54.29%)in group B,in group A was lower than in group B(P＜0.001).No other complications occurred.One week and 1,3 and 6 months after treatments,VAS scores of pain,DMC and ODI in group A and B were all lower than those before treatments(all P＜0.001).Three and 6 months after treatments,VAS scores of pain in group A were lower than those in group B(both P＜0.01),while 6 months after treatments,DMC and ODI in group A were lower than those in group B(both P＜0.01).No significant difference of VAS scores of pain,DMC nor ODI was found between groups at the other time points(all P＞0.05).Six months after treatments,local tumor recurrence rate in lesions in group A(17.14%,18/105)was significantly lower than that in group B(32.35%,22/68)(P=0.020).Conclusion For treating VCF caused by metastatic cancer,PVP combined with MWA could reduce incidence of complications,prolong pain relief time and bring better short-term local tumor control effect.

Objective:To explore the clinical and genetic characteristics of X-linked intellectual disability associated with HUWE1 gene variants.Methods:A cases series study retrospectively analyzed the clinical data of 6 children with HUWE1 gene variants. The children were identified from the Third Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Henan University of Chinese Medicine, and Guangzhou Women and Children′s Medical Center of Guangzhou Medical University between April 2021 and July 2023.The data included sex, age, dysmorphic features, intellectual and motor development, seizure history, neuroimaging findings, family history, and genetic results was analyzed.Results:A total of 6 children, including 5 boys and 1 girl. The age of onset ranged from 1 day to 3 years. All children presented with varying degrees of intellectual disability, with or without motor developmental delay. Dysmorphic features were observed in 4 children, including microcephaly in 3 children. Short stature were observed in 3 children. One child was diagnosed with autism spectrum disorders and 1 child had seizures. Two boys had relevant maternal family histories of febrile seizures and mild intellectual disability, respectively. Abnormal neuroimaging findings were presented in 4 children, including cerebral dysplasia (1 child), prominent supratentorial ventricles (1 child), and mild white matter demyelination (2 children). Whole-exome sequencing identified 5 missense variants and 1 in-frame deletion variant. Five variants were novel and previously unreported (c.12290C>T, c.12701T>C, c.9875C>T, c.9641A>T and c.10313_10315del). The variants in 4 boys were maternally inherited, while the remaining 2 children had de novo variants. The child with the in-frame deletion variant (c.10313_10315del) presented with the most severe phenotype, exhibiting symptoms from 1 day of age, absent cognitive development, feeding difficulties, and congenital laryngeal chondrodysplasia. He was lost to follow-up at 3 months of age after treatment was withdrawn. The age at the last follow-up for the remaining 5 children ranged from 2 years and 10 months to 17 years. A boy with seizures died at 2 years and 10 months of age. The remaining 4 children were able to walk independently at the last follow-up, although their developmental progress was slow. Conclusions:HUWE1 gene related X-linked intellectual disability is characterized by varying degrees of developmental delay and intellectual disability, frequently accompanied by microcephaly, short stature, and occasionally by seizures and autism spectrum disorders. Missense variants are more common and the in-frame deletion variant appears to be associated with a particularly severe phenotypic presentation.

Since the 18^th National Congress of the Communist Party of China （CPC）， a continuous stream of scientific and technological innovations has unfolded in the realm of traditional Chinese medicine （TCM）. With the aim of implementing the spirit of the 20^th National Congress of the CPC， and the Opinions on Promoting the Inheritance， Innovation and Development of TCM， and to underscore the exemplary role of significant scientific and technological achievements， the China Association of Chinese Medicine， in alignment with relevant requirements and under the guidance of authoritative experts， has organized a comprehensive review of the important scientific and technological achievements in the field of TCM since the 18^th National Congress of the CPC. Through rigorous procedures， including collecting and reviewing achievements， writing achievement reports， organizing expert reviews， and seeking public opinions， remarkable research achievements in TCM during 2012—2022 were compiled.

Objective:To explore the clinical and genetic characteristics of asparagine synthase deficiency.Methods:Case series studies. Retrospective analysis and summary of the clinical data of 6 cases with asparagine synthase deficiency who were diagnosed by genetic testing and admitted to the Third Affiliated Hospital of Zhengzhou University from May 2017 to April 2023 were analyzed retrospectively. The main clinical features, laboratory and imaging examination characteristics of the 6 cases were summarized, and the gene variation sites of them were analyzed.Results:All of the 6 cases were male, with onset ages ranging from 1 month to 1 year and 4 months. All of the 6 cases had cognitive and motor developmental delay, with 3 cases starting with developmental delay, 3 cases starting with convulsions and later experiencing developmental arrest or even regression. All of 6 cases had epilepsy, in whom 2 cases with severe microcephaly developed epileptic encephalopathy in the early stages of infancy with spasms as the main form of convulsions, 4 cases with mild or no microcephaly gradually evolved into convulsions with no fever after multiple febrile convulsions with focal seizures, tonic clonic seizures and tonic seizure as the main forms of convulsions. Three cases of 4 gradually developed into stagnation or even regression of development and ataxia after multiple convulsions with no fever. There were normal cranial imaging in 2 cases, dysplasia of the brains in 1 cases, frontal lobe apex accompanied by abnormal white matter signal in the frontal lobe and thin corpus callosum in 1 case, thin corpus callosum and abnormal lateral ventricular morphology in 1 case, and normal in early stage, but gradually developing into cerebellar atrophy at the age of 5 years and 9 months in 1 case. Two cases underwent visual evoked potential tests, the results of which were both abnormal. Three cases underwent auditory evoked potential examination, with 1 being normal and 2 being abnormal. All of 6 cases had variations in the asparagine synthase gene, with 2 deletion variations and 7 missense variations. The variations of 2 cases had not been reported so far, including c.1341_1343del and c.1283A>G, c.1165_1167del and c.1075G>A. The follow-up time ranged from 3 months to 53 months. Two cases who had severe microcephaly died in infancy, while the other 4 cases with mild or no microcephaly were in survival states until the follow-up days but the control of epilepsy was poor.Conclusions:Asparagine synthase deficiency has a certain degree of heterogeneity in clinical phenotype. Children with obvious microcephaly often present as severe cases, while children with mild or no microcephaly have relatively mild clinical manifestations. The variation of asparagine synthetase gene is mainly missense variation.

Abstract: Upon monitoring cytoplasmic aberrant double-stranded DNA, cGAS-STING signaling pathway induces the expression of type I interferons and pro-inflammatory cytokines, which activates the host immune response and enhances anti-tumor immune response and resistance to pathogen infection. However, sustained activation of the cGAS-STING signaling pathway drives diseases such as autoimmune diseases, aging-associated inflammation, and neurodegenerative pathologies. Herein, we describe the mechanism by which cGAS-STING signaling pathway participates in regulating the development of various immune-related diseases, with a particular review of the research and development progress of STING agonists, cGAS inhibitors, and STING inhibitors, aiming to provide some theoretical reference for the future development of cGAS-STING modulators.