Objective:To summarize the clinical phenotype and genetic features of patients with relapsing encephalopathy with cerebellar ataxia (RECA) caused by ATP1A3 gene R756 variants. Methods:A retrospective analysis was performed on patients carrying the ATP1A3 gene R756 variants, identified by whole-exome sequencing of family members, at Capital Center for Children′s Health, Capital Medical University and Children's Medical Center, Peking University First Hospital from August 2005 to February 2024. Their clinical, laboratory, neuroimaging, electrophysiological and genetic characteristics were summarized. Results:A total of 13 RECA patients were enrolled in this study, including 8 males and 5 females. The age of onset was 8 months to 5 years, with a median age of onset of 18 months. All of 13 patients presented paroxysmal episodes of neurological decompensations triggered by fever and residual symptoms following the acute phase. During acute attack stage, ataxia was observed in all 13 cases, muscle weakness in 12 cases, dysarthria in 12 cases, altered consciousness in 10 cases, dysphagia in 10 cases, dystonic episodes in 4 cases, abnormal eye movement in 2 cases, choreoathetosis in 2 cases, and epileptic seizures in 1 case. All 13 patients had residual symptoms during the nonparoxysmal period, of whom 9 patients had ataxia, 9 patients had dysarthria, 4 patients had dystonia, 3 patients had cognitive disorders, and 1 patient had epileptic seizures. All 13 cases had ATP1A3 missense variants, and variant c.2266C>T/p.R756C was found in 6 cases, c.2267G>A/p.R756H in 5 cases, and c.2267G>T/p.R756L in 2 cases. Nine cases carried de novo variants, 4 with inherited variants. Conclusions:RECA caused by variants of ATP1A3 in residue 756 typically presents with an acute onset during infancy or early childhood, precipitated by febrile episodes and characterized by recurrent episodes of ataxia, with bulbar paralysis, muscle weakness and altered consciousness. Recurrence is common, and the most common persistent symptoms are cerebellar ataxia and dysarthria. A few patients have cognitive impairment. Three types of ATP1A3 gene variants R756C, R756H and R756L are related with RECA, and R756C is the most common variant.

POEMS syndrome is a rare condition associated with plasma cell disorders， and it often involves multiple systems and has diverse clinical manifestations. This article reports two cases of POEMS syndrome with hepatosplenomegaly as the initial manifestation. During the course of the disease， the patients presented with lower limb weakness， hepatosplenomegaly， lymph node enlargement， ascites， hypothyroidism， positive M protein， and skin hyperpigmentation， and ¹⁸F-FDG PET-CT imaging revealed bone lesions mainly characterized by osteolytic changes and plasma cell tumors. There was an increase in the serum level of vascular endothelial growth factor. The patients were finally diagnosed with POEMS syndrome， and the symptoms were relieved after immunomodulatory treatment.

OBJECTIVE: To observe the efficacy and safety of Tiaowei Jiannao acupuncture (acupuncture for regulating defensive qi and nourishing brain) for post-ischemic stroke insomnia (PISI). METHODS: A total of 96 patients with PISI were randomized into an acupuncture group (32 cases, 1 case was excluded), a medication group (32 cases, 1 case dropped out, 1 case was excluded) and a sham-acupuncture group (32 cases, 1 case dropped out, 1 case was excluded). In the acupuncture group, Tiaowei Jiannao acupuncture was applied at bilateral Shenmai (BL62), Zhaohai (KI6), Hegu (LI4), Taichong (LR3), and Baihui (GV20), Sishencong (EX-HN1), Yintang (GV24⁺), Shenting (GV24), once a day, 1-day interval was taken after 6-day treatment, for 3 weeks totally. In the medication group, eszopiclone tablet was given orally, 1-3 mg a time, once a day for 3 weeks. In the sham-acupuncture group, non-invasive sham acupuncture was applied, the acupoint selection, frequency and course of treatment were the same as the acupuncture group. Before treatment, after 2,3 weeks of treatment, the scores of Pittsburgh sleep quality index (PSQI), self-rating sleep scale (SRSS), National Institutes of Health Stroke scale (NIHSS), Hamilton depression scale-17 (HAMD-17) were observed; before and after treatment, the sleep parameters were recorded using polysomnography (PSG); and the efficacy and safety were evaluated after treatment in the 3 groups. RESULTS: After 2,3 weeks of treatment, the scores of PSQI, HAMD-17 and SRSS in the acupuncture group and the medication group, as well as the SRSS scores in the sham-acupuncture group were decreased compared with those before treatment (P<0.05); after 2 weeks of treatment, the NIHSS score in the acupuncture group was decreased compared with that before treatment (P<0.05); after 3 weeks of treatment, the NIHSS scores in the acupuncture group, the medication group and the sham-acupuncture group were decreased compared with those before treatment (P<0.05). After 3 weeks of treatment, the scores of PSQI, SRSS, HAMD-17 and NIHSS in the acupuncture group and the medication group, as well as the NIHSS score in the sham-acupuncture group were decreased compared with those after 2 weeks of treatment (P<0.05). After 2,3 weeks of treatment, the scores of PSQI, SRSS and HAMD-17 in the acupuncture group and the medication group were lower than those in the sham-acupuncture group (P<0.05), the NIHSS scores in the acupuncture group were lower than those in the medication group and the sham-acupuncture group (P<0.05); after 3 weeks of treatment, HAMD-17 score in the acupuncture group was lower than that in the medication group (P<0.05), the NIHSS score in the medication group was lower than that in the sham-acupuncture group (P<0.05). Compared before treatment, after treatment, the total sleep time was prolonged (P<0.05), the wake after sleep onset, sleep latency, and non-rapid eye movement (NREM) sleep latency were shortened (P<0.05), the sleep efficiency was improved (P<0.05), the number of awakenings was reduced (P<0.05), the percentage of rapid eye movement (REM%) and the percentage of NREM stage 1 (N1%) were decreased (P<0.05), the percentage of NREM stage 2 (N2%) and the percentage of NREM stage 3 (N3%) were increased (P<0.05) in the acupuncture group and the medication group; the sleep latency was shortened in the sham-acupuncture group (P<0.05). After treatment, the PSG indexes in the acupuncture group and the medication group were superior to those in the sham-acupuncture group (P<0.05); in the acupuncture group, the number of awakenings was less than that in the medication group (P<0.05), the REM% and N1% were lower than those in the medication group (P<0.05), the N2% and N3% were higher than those in the medication group (P<0.05). The total effective rate were 93.5% (29/31) and 90.0% (27/30) in the acupuncture group and the medication group respectively, which were higher than 10.0% (3/30) in the sham-acupuncture group (P<0.05). There was no serious adverse events in any of the 3 groups. CONCLUSION Tiaowei Jiannao acupuncture improves the insomnia symptoms in patients with ischemic stroke, improves the quality of sleep, increases the deep sleep, promotes the recovery of neurological function, and relieves the depression. It is effective and safe for the treatment of PISI.
Humans ; Acupuncture Therapy ; Male ; Sleep Initiation and Maintenance Disorders/physiopathology* ; Female ; Middle Aged ; Aged ; Acupuncture Points ; Treatment Outcome ; Adult ; Ischemic Stroke/complications* ; Stroke/complications* ; Sleep

Objective:To explore the current state of thriving at work among orthopedic nurses and analyze its influencing factors, so as to provide a basis for nursing administrators to promote the development of orthopedic nurses.Methods:Convenience sampling was used to select 469 orthopedic nurses from the Honghui Hospital, Xi'an Jiaotong University from January to February 2025 as research subjects. The General Information Questionnaire, Thriving at Work Scale (TWS), Leisure Crafting Scale (LCS), and General Self-Efficacy Scale (GSES) were used to investigate general information, thriving at work, leisure crafting, and self-efficacy. Pearson correlation analysis was employed to investigate the correlation between orthopedic nurses' thriving at work, leisure crafting, and general efficacy. Multiple linear regression was used to analyze the factors influencing the thriving at work of orthopedic nurses.Results:A total of 469 questionnaires were distributed, with 442 valid responses collected, with a valid response rate of 94.24%. The TWS score of orthopedic nurses was (35.70±5.20). Pearson correlation analysis revealed that scores on TWS were positively correlated with scores on both LCS and GSES ( r=0.593, 0.569; P<0.01). Multiple linear regression analysis revealed that being an only child, liking nursing work, interest in the nursing profession, leisure crafting, and general self-efficacy were factors influencing the thriving at work of orthopedic nurses ( P<0.05) . Conclusions:The thriving at work of orthopedic nurses is at a moderate level. Orthopedic nurses who are only children, the better the leisure crafting and general self-efficacy of orthopedic nurses have the higher their thriving at work. Orthopedic nursing managers should provide a supportive environment to enhance orthopedic nurses' intrinsic motivation, thereby promoting their thriving at work.

Objective·To elucidate the causal relationship between obstructive sleep apnea(OSA)and imaging-derived phenotypes(IDPs)through two-sample Mendelian randomization(MR)studies.Methods·The genetic data related to OSA were obtained from the genome-wide association study(GWAS)(ncase group=50 200,ncontrol group=401 484)in the FinnGen Biobank R11.Twenty-seven single nucleotide polymorphisms(SNPs)were screened out as instrumental variables of OSA.The GWAS of 3 935 IDPs was based on multimodal neuroimaging data from 39 691 individuals of European ancestry in the UK Biobank.Multiple MR methods,primarily utilizing inverse variance weighted(IVW)analysis,were applied,along with assessments for heterogeneity,pleiotropy,and sensitivity.Results·MR analysis indicated that 8 IDPs were associated with OSA.For example,the genetically determined volume of caudal middle frontal gyrus in the right hemisphere was associated with an increased risk of OSA.A one?standard-deviation increase in volume corresponded to an 11%higher risk of OSA(IVW OR=1.11,95%CI 1.06?1.17,P<0.001).Genetically determined reduced risk of OSA was associated with a resting-state functional connectivity characteristic(IVW β=-0.10,95%CI-0.19?-0.01,P=0.025),representing the functional connectivity strength between the bilateral frontal poles and the right frontal-parietal cortex.The heterogeneity test did not find significant heterogeneity among the instrumental variables.The pleiotropy test did not detect any pleiotropy.The sensitivity analysis indicated stable results.Conclusion·Eight IDPs may have a causal relationship with the occurrence of OSA,among which one IDP shows a bidirectional causal relationship,providing potential targets for non-invasive neuromodulation interventions in OSA.

Objective·To elucidate the causal relationship between obstructive sleep apnea(OSA)and imaging-derived phenotypes(IDPs)through two-sample Mendelian randomization(MR)studies.Methods·The genetic data related to OSA were obtained from the genome-wide association study(GWAS)(ncase group=50 200,ncontrol group=401 484)in the FinnGen Biobank R11.Twenty-seven single nucleotide polymorphisms(SNPs)were screened out as instrumental variables of OSA.The GWAS of 3 935 IDPs was based on multimodal neuroimaging data from 39 691 individuals of European ancestry in the UK Biobank.Multiple MR methods,primarily utilizing inverse variance weighted(IVW)analysis,were applied,along with assessments for heterogeneity,pleiotropy,and sensitivity.Results·MR analysis indicated that 8 IDPs were associated with OSA.For example,the genetically determined volume of caudal middle frontal gyrus in the right hemisphere was associated with an increased risk of OSA.A one?standard-deviation increase in volume corresponded to an 11%higher risk of OSA(IVW OR=1.11,95%CI 1.06?1.17,P<0.001).Genetically determined reduced risk of OSA was associated with a resting-state functional connectivity characteristic(IVW β=-0.10,95%CI-0.19?-0.01,P=0.025),representing the functional connectivity strength between the bilateral frontal poles and the right frontal-parietal cortex.The heterogeneity test did not find significant heterogeneity among the instrumental variables.The pleiotropy test did not detect any pleiotropy.The sensitivity analysis indicated stable results.Conclusion·Eight IDPs may have a causal relationship with the occurrence of OSA,among which one IDP shows a bidirectional causal relationship,providing potential targets for non-invasive neuromodulation interventions in OSA.

Objective:To explore the current state of thriving at work among orthopedic nurses and analyze its influencing factors, so as to provide a basis for nursing administrators to promote the development of orthopedic nurses.Methods:Convenience sampling was used to select 469 orthopedic nurses from the Honghui Hospital, Xi'an Jiaotong University from January to February 2025 as research subjects. The General Information Questionnaire, Thriving at Work Scale (TWS), Leisure Crafting Scale (LCS), and General Self-Efficacy Scale (GSES) were used to investigate general information, thriving at work, leisure crafting, and self-efficacy. Pearson correlation analysis was employed to investigate the correlation between orthopedic nurses' thriving at work, leisure crafting, and general efficacy. Multiple linear regression was used to analyze the factors influencing the thriving at work of orthopedic nurses.Results:A total of 469 questionnaires were distributed, with 442 valid responses collected, with a valid response rate of 94.24%. The TWS score of orthopedic nurses was (35.70±5.20). Pearson correlation analysis revealed that scores on TWS were positively correlated with scores on both LCS and GSES ( r=0.593, 0.569; P<0.01). Multiple linear regression analysis revealed that being an only child, liking nursing work, interest in the nursing profession, leisure crafting, and general self-efficacy were factors influencing the thriving at work of orthopedic nurses ( P<0.05) . Conclusions:The thriving at work of orthopedic nurses is at a moderate level. Orthopedic nurses who are only children, the better the leisure crafting and general self-efficacy of orthopedic nurses have the higher their thriving at work. Orthopedic nursing managers should provide a supportive environment to enhance orthopedic nurses' intrinsic motivation, thereby promoting their thriving at work.

Objective:To summarize the clinical phenotype and genetic features of patients with relapsing encephalopathy with cerebellar ataxia (RECA) caused by ATP1A3 gene R756 variants. Methods:A retrospective analysis was performed on patients carrying the ATP1A3 gene R756 variants, identified by whole-exome sequencing of family members, at Capital Center for Children′s Health, Capital Medical University and Children's Medical Center, Peking University First Hospital from August 2005 to February 2024. Their clinical, laboratory, neuroimaging, electrophysiological and genetic characteristics were summarized. Results:A total of 13 RECA patients were enrolled in this study, including 8 males and 5 females. The age of onset was 8 months to 5 years, with a median age of onset of 18 months. All of 13 patients presented paroxysmal episodes of neurological decompensations triggered by fever and residual symptoms following the acute phase. During acute attack stage, ataxia was observed in all 13 cases, muscle weakness in 12 cases, dysarthria in 12 cases, altered consciousness in 10 cases, dysphagia in 10 cases, dystonic episodes in 4 cases, abnormal eye movement in 2 cases, choreoathetosis in 2 cases, and epileptic seizures in 1 case. All 13 patients had residual symptoms during the nonparoxysmal period, of whom 9 patients had ataxia, 9 patients had dysarthria, 4 patients had dystonia, 3 patients had cognitive disorders, and 1 patient had epileptic seizures. All 13 cases had ATP1A3 missense variants, and variant c.2266C>T/p.R756C was found in 6 cases, c.2267G>A/p.R756H in 5 cases, and c.2267G>T/p.R756L in 2 cases. Nine cases carried de novo variants, 4 with inherited variants. Conclusions:RECA caused by variants of ATP1A3 in residue 756 typically presents with an acute onset during infancy or early childhood, precipitated by febrile episodes and characterized by recurrent episodes of ataxia, with bulbar paralysis, muscle weakness and altered consciousness. Recurrence is common, and the most common persistent symptoms are cerebellar ataxia and dysarthria. A few patients have cognitive impairment. Three types of ATP1A3 gene variants R756C, R756H and R756L are related with RECA, and R756C is the most common variant.

Colorectal cancer (CRC) is a prevalent malignant tumor often leading to liver metastasis and mortality. Despite some success with PD-1/PD-L1 immunotherapy, the response rate for colon cancer patients remains relatively low. This is closely related to the immunosuppressive tumor microenvironment mediated by tumor-associated macrophages (TAMs). Our previous work identified that a phosphoglycerate mutase 1 (PGAM1) allosteric inhibitor, HKB99, exerts a range of anti-tumor activities in lung cancer. Here, we found that upregulation of PGAM1 correlates with increased levels of M2-like tumor-associated macrophages (TAMs) in human colon cancer samples, particularly in liver metastatic tissues. HKB99 suppressed tumor growth and metastasis in cell culture and syngeneic tumor models. M2-polarization, induced by colon cancer cell co-culture, was reversed by HKB99. Conversely, the increased migration of colon cancer cells by M2-TAMs was remarkably restrained by HKB99. Notably, a decrease in TAM infiltration was required for the HKB99-mediated anti-tumor effect, along with an increase in CD8⁺ T cell infiltration. Moreover, HKB99 improved the efficacy of anti-PD-1 treatment in syngeneic tumors. Overall, this study highlights HKB99's inhibitory activity in TAM-mediated colon cancer progression. Targeting PGAM1 could lead to novel therapeutic strategies and enhance the effectiveness of existing immunotherapies for colon cancer.

Objective:To evaluate the efficacy and safety of CD30 antibody-drug conjugates (ADC) brentuximab vedotin (BV) combined with chemotherapy in children with refractory or relapsed classic Hodgkin′s lymphoma (R/R cHL).Methods:Clinical data (including age, gender, B symptoms, clinical stage, previous treatment, etc.) of the 10 R/R cHL children diagnosed and treated at Beijing Children′s Hospital Affiliated to Capital Medical University from October 2021 to August 2023 were analyzed retrospectively. According to the different intensity of chemotherapy drugs, the dose of BV applied in the same course of treatment was 1.8 mg/kg for BV applied once every 3 weeks, and 1.2 mg/kg for BV applied once every 2 weeks. All 10 patients received at least 2 cycles of BV combined with chemotherapy and were evaluated every 2 cycles. The patients were followed up until May 31, 2024. The infusion reactions and adverse reactions after treatment were recorded.Results:In all 10 patients, there were 7 males and 3 females, the age ranged from 5.3-16.9 years, and there were 6 cases of refractory and 4 cases of relapsed. There were 6 cases of nodular sclerosis type, 2 cases of mixed cell type, 1 case of lymphocyte-rich type, and 1 case of lymphodepletion type. There were 5 cases of stage Ⅳ and 5 cases of stage Ⅲ. Previous treatment was mainly chemotherapy, 4 cases received radiotherapy and 1 case received programmed cell death protein 1 (PD-1) antibody therapy. The follow-up time ranged from 9 to 27 months. A total of 43 courses with 49 doses of BV alone or combined with chemotherapy were recorded, and the number of courses was 2 to 10 times. All 10 children responded to the treatment, and 9 achieved complete remission. BV infusion was successfully completed in all cases. A total of 28 cases of grade 3 or above adverse events were recorded, mainly myelosuppression, all of which were related to chemotherapy and did not affect sequential treatment.Conclusion:Brentuximab vedotin has demonstrated efficacy and a tolerable safety profile in the treatment of refractory and relapsed CD30-positive Hodgkin′s lymphoma in children.