Lance-Adams syndrome (LAS) is a chronic neurological sequela secondary to cerebral hypoxic events, characterized by action or intention myoclonus, which can severely impact patient′s quality of life. A case of a 41-year-old male patient with LAS who was initially hospitalized due to trauma was reported in this article. During hospitalization, he experienced airway obstruction leading to respiratory and circulatory disturbance. After successful resuscitation, he developed frequent facial and limb myoclonus, accompanied by dysarthria, dysphagia, and ataxia. The myoclonus was triggered by emotional stress, voluntary movements, or external stimuli. Despite the use of multiple conventional antiseizure medications including valproate (1 g/d), clonazepam (6 mg/d), and levetiracetam (2 g/d), the therapeutic effect remained unsatisfactory. Upon adding the selective α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antagonist perampanel (initial dose 2 mg/d, increased to 4 mg/d after a week) to the basic treatment regimen, the patient′s myoclonus symptoms significantly improved and he regained independent walking ability after 2 weeks. At the 6-month follow-up, myoclonus remained stably controlled, with the modified Rankin Scale score maintained at 3, indicating sustained improvement in quality of life. This case adds evidence to the clinical practice of treating LAS with perampanel. For LAS patients who respond poorly to conventional medications, perampanel may be an effective treatment option.

Objectives:To investigate the physical growth status of pediatric patients with transfusion-dependent thalassemia (TDT) and analyze the effects of treatment-related and socioeconomic factors on physical growth.Methods:Based on the specialized thalassemia database from gene therapy clinical research at the Institute of Hematology & Hospital of Blood Diseases, Chinese Academy of Medical Sciences & Peking Union Medical College, we collected data on height and weight development, family economic status, and medical records of 338 pediatric patients with TDT from October 2023 to May 2024. The length/height-for-age and body mass index (BMI) -for-age were classified based on the Growth Standard for Children under 7 Years of Age, Standard for Height Level Classification among Children and Adolescents Aged 7-18 Years, and Dietary Guidelines for Chinese Residents. Logistic regression analysis was conducted to assess the effects of family economic status and disease-related treatment on length/height-for-age and BMI-for-age.Results:Among the 338 patients, 118 were children and 220 were adolescents (192 males and 146 females), with a median age of 12 years (range: 0.8-18) and a median diagnosis duration of 10.3 years (range: 0.5-17.9). Subtypes included α-thalassemia [21 cases (6.2%) ], β-thalassemia [288 cases (85.2%) ], and combined αβ-thalassemia[29 cases (8.6%) ]. The monthly household income of patients was concentrated in 3 000-5 000 yuan (39.9%) and 5 001-10 000 yuan (34.9%), whereas 67.2% of the families had monthly medical expenses of <3 000 yuan. Of the patients, 75.5% received their first transfusion before 1 year of age. The proportions of children and adolescents with pretransfusion hemoglobin (HGB) of ≤70 g/L were 4.2% and 6.4%, respectively. Adolescents demonstrated significantly higher rates of transfusion frequency of <4 weeks/session, monthly red blood cell infusion of >2 U, serum ferritin (SF) of ≥5 000 μg/L, iron chelation therapy, and splenectomy compared with children (all P<0.05). Of the 338 patients, 26.0%, 22.8%, and 8.9% demonstrated stunted growth, underweight, and concurrent stunted growth with underweight, respectively. No significant difference was observed in the stunted growth rates between children (22.9%) and adolescents (27.7%) ( P=0.402). However, the underweight rate in adolescents (26.8%) was significantly higher than that in children (15.3%) ( P=0.023). The multivariate analysis determined the following risk factors for stunted growth: monthly household income of <10 000 yuan (5 001-10 000 yuan: OR=5.49, 95% CI: 1.48-35.76; 3 000-5 000 yuan: OR=6.87, 95% CI: 1.88-44.60; <3 000 yuan: OR=9.29, 95% CI: 2.20-64.77), pretransfusion HGB of ≤70 g/L ( OR=3.25, 95% CI: 1.07-10.18), and SF of ≥5 000 μg/L ( OR = 3.04, 95% CI: 1.20-7.70). Longer diagnostic duration was associated with underweight ( OR=1.10, 95% CI: 1.01-1.20) . Conclusions:Children and adolescents with TDT with pretransfusion SF of ≥5 000 μg/L, HGB of ≤70 g/L, low monthly household income, or longer diagnosis duration were significantly more likely to experience delayed physical growth.

Objective:To evaluate the efficacy of cyclophosphamide in patients with T-cell large granular lymphocytic leukemia (T-LGLL) and the maintenance of treatment-free remission (TFR) following drug discontinuation.Methods:Clinical data were collected from 37 patients with T-LGLL who received oral cyclophosphamide at the Regenerative Medicine Clinic of the Institute of Hematology and Blood Diseases Hospital between June 2019 and March 2024. Patient clinical characteristics, treatment efficacy, and long-term TFR were analyzed.Results:The median age of the 37 patients was 60 years (range: 37-86), and 22 (59.5%) were male. Anemia was observed in 30 patients (81.1%), and 28 (75.7%) met the diagnostic criteria for secondary pure red cell aplasia. Neutropenia occurred in 15 patients (40.5%), lymphocytosis in 11 (29.7%), and thrombocytopenia in three (8.1%). Sixteen patients (43.2%) had not received prior immunosuppressive therapy (treatment-naive group), while 21 patients (56.8%) were refractory to or had relapsed after immunosuppressive treatment (refractory/relapsed group). All patients met the treatment criteria and received oral cyclophosphamide at doses of 50-100 mg/day. Among the 36 evaluable patients, hematologic remission was achieved in 25 (69.4%), with a median time of 2.0 months (range: 0.7-7.0). There was no statistically significant difference in remission rates between the treatment-naive and refractory/relapsed groups (68.5% vs. 66.7%, P=0.589). Among the 25 patients who achieved hematologic remission, 24 discontinued cyclophosphamide. With a median follow-up of 39.0 months (range: 8.0-56.0), the median TFR duration was not reached. The estimated TFR rates were (90.87± 6.16) % at 12 months and (75.72±11.04) % at 36 months. No significant difference in TFR was observed between the treatment-naive and refractory/relapsed groups ( P=0.451) . Conclusion:Oral cyclophosphamide is effective in the treatment of T-LGLL, and patients may maintain long-term TFR following drug discontinuation.

Multiple sclerosis(MS)is a chronic central nervous system inflammatory demyelinating disease caused by autoim-mune diseases.Intermittent fasting(IF)is a dietary pattern with periodic energy limitation.Studies have shown that IF can delay the occurrence and development of MS and experimental allergic encephalomyelitis(EAE).Its mechanism of action includes repairing nerve damage,promoting myelin regeneration,regulating gut microbiota,and reversing immune inflammation.The use of IF can re-duce the severity,recurrence time,and lesion size of MS patients clinically,which brings new ideas for the treatment and prevention of MS.This article provides a review of the effects and mechanisms of IF in treating MS,with the aim of gaining new insights into the treatment of MS and providing reference for the application of IF in the treatment of MS patients.

Objectives:To investigate the physical growth status of pediatric patients with transfusion-dependent thalassemia (TDT) and analyze the effects of treatment-related and socioeconomic factors on physical growth.Methods:Based on the specialized thalassemia database from gene therapy clinical research at the Institute of Hematology & Hospital of Blood Diseases, Chinese Academy of Medical Sciences & Peking Union Medical College, we collected data on height and weight development, family economic status, and medical records of 338 pediatric patients with TDT from October 2023 to May 2024. The length/height-for-age and body mass index (BMI) -for-age were classified based on the Growth Standard for Children under 7 Years of Age, Standard for Height Level Classification among Children and Adolescents Aged 7-18 Years, and Dietary Guidelines for Chinese Residents. Logistic regression analysis was conducted to assess the effects of family economic status and disease-related treatment on length/height-for-age and BMI-for-age.Results:Among the 338 patients, 118 were children and 220 were adolescents (192 males and 146 females), with a median age of 12 years (range: 0.8-18) and a median diagnosis duration of 10.3 years (range: 0.5-17.9). Subtypes included α-thalassemia [21 cases (6.2%) ], β-thalassemia [288 cases (85.2%) ], and combined αβ-thalassemia[29 cases (8.6%) ]. The monthly household income of patients was concentrated in 3 000-5 000 yuan (39.9%) and 5 001-10 000 yuan (34.9%), whereas 67.2% of the families had monthly medical expenses of <3 000 yuan. Of the patients, 75.5% received their first transfusion before 1 year of age. The proportions of children and adolescents with pretransfusion hemoglobin (HGB) of ≤70 g/L were 4.2% and 6.4%, respectively. Adolescents demonstrated significantly higher rates of transfusion frequency of <4 weeks/session, monthly red blood cell infusion of >2 U, serum ferritin (SF) of ≥5 000 μg/L, iron chelation therapy, and splenectomy compared with children (all P<0.05). Of the 338 patients, 26.0%, 22.8%, and 8.9% demonstrated stunted growth, underweight, and concurrent stunted growth with underweight, respectively. No significant difference was observed in the stunted growth rates between children (22.9%) and adolescents (27.7%) ( P=0.402). However, the underweight rate in adolescents (26.8%) was significantly higher than that in children (15.3%) ( P=0.023). The multivariate analysis determined the following risk factors for stunted growth: monthly household income of <10 000 yuan (5 001-10 000 yuan: OR=5.49, 95% CI: 1.48-35.76; 3 000-5 000 yuan: OR=6.87, 95% CI: 1.88-44.60; <3 000 yuan: OR=9.29, 95% CI: 2.20-64.77), pretransfusion HGB of ≤70 g/L ( OR=3.25, 95% CI: 1.07-10.18), and SF of ≥5 000 μg/L ( OR = 3.04, 95% CI: 1.20-7.70). Longer diagnostic duration was associated with underweight ( OR=1.10, 95% CI: 1.01-1.20) . Conclusions:Children and adolescents with TDT with pretransfusion SF of ≥5 000 μg/L, HGB of ≤70 g/L, low monthly household income, or longer diagnosis duration were significantly more likely to experience delayed physical growth.

Objective:To evaluate the efficacy of cyclophosphamide in patients with T-cell large granular lymphocytic leukemia (T-LGLL) and the maintenance of treatment-free remission (TFR) following drug discontinuation.Methods:Clinical data were collected from 37 patients with T-LGLL who received oral cyclophosphamide at the Regenerative Medicine Clinic of the Institute of Hematology and Blood Diseases Hospital between June 2019 and March 2024. Patient clinical characteristics, treatment efficacy, and long-term TFR were analyzed.Results:The median age of the 37 patients was 60 years (range: 37-86), and 22 (59.5%) were male. Anemia was observed in 30 patients (81.1%), and 28 (75.7%) met the diagnostic criteria for secondary pure red cell aplasia. Neutropenia occurred in 15 patients (40.5%), lymphocytosis in 11 (29.7%), and thrombocytopenia in three (8.1%). Sixteen patients (43.2%) had not received prior immunosuppressive therapy (treatment-naive group), while 21 patients (56.8%) were refractory to or had relapsed after immunosuppressive treatment (refractory/relapsed group). All patients met the treatment criteria and received oral cyclophosphamide at doses of 50-100 mg/day. Among the 36 evaluable patients, hematologic remission was achieved in 25 (69.4%), with a median time of 2.0 months (range: 0.7-7.0). There was no statistically significant difference in remission rates between the treatment-naive and refractory/relapsed groups (68.5% vs. 66.7%, P=0.589). Among the 25 patients who achieved hematologic remission, 24 discontinued cyclophosphamide. With a median follow-up of 39.0 months (range: 8.0-56.0), the median TFR duration was not reached. The estimated TFR rates were (90.87± 6.16) % at 12 months and (75.72±11.04) % at 36 months. No significant difference in TFR was observed between the treatment-naive and refractory/relapsed groups ( P=0.451) . Conclusion:Oral cyclophosphamide is effective in the treatment of T-LGLL, and patients may maintain long-term TFR following drug discontinuation.

Lance-Adams syndrome (LAS) is a chronic neurological sequela secondary to cerebral hypoxic events, characterized by action or intention myoclonus, which can severely impact patient′s quality of life. A case of a 41-year-old male patient with LAS who was initially hospitalized due to trauma was reported in this article. During hospitalization, he experienced airway obstruction leading to respiratory and circulatory disturbance. After successful resuscitation, he developed frequent facial and limb myoclonus, accompanied by dysarthria, dysphagia, and ataxia. The myoclonus was triggered by emotional stress, voluntary movements, or external stimuli. Despite the use of multiple conventional antiseizure medications including valproate (1 g/d), clonazepam (6 mg/d), and levetiracetam (2 g/d), the therapeutic effect remained unsatisfactory. Upon adding the selective α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antagonist perampanel (initial dose 2 mg/d, increased to 4 mg/d after a week) to the basic treatment regimen, the patient′s myoclonus symptoms significantly improved and he regained independent walking ability after 2 weeks. At the 6-month follow-up, myoclonus remained stably controlled, with the modified Rankin Scale score maintained at 3, indicating sustained improvement in quality of life. This case adds evidence to the clinical practice of treating LAS with perampanel. For LAS patients who respond poorly to conventional medications, perampanel may be an effective treatment option.

Multiple sclerosis(MS)is a chronic central nervous system inflammatory demyelinating disease caused by autoim-mune diseases.Intermittent fasting(IF)is a dietary pattern with periodic energy limitation.Studies have shown that IF can delay the occurrence and development of MS and experimental allergic encephalomyelitis(EAE).Its mechanism of action includes repairing nerve damage,promoting myelin regeneration,regulating gut microbiota,and reversing immune inflammation.The use of IF can re-duce the severity,recurrence time,and lesion size of MS patients clinically,which brings new ideas for the treatment and prevention of MS.This article provides a review of the effects and mechanisms of IF in treating MS,with the aim of gaining new insights into the treatment of MS and providing reference for the application of IF in the treatment of MS patients.

Objective:To elucidate the complete genomic characteristics of the Akabane virus (AKV) DHL10M117 strain and the Tibet orbivirus (TIBOV) DH10M1019 strain, isolated from mosquito specimens collected in 2010 from Dehong prefecture, Yunnan province.Methods:The complete RNA virus sequences were obtained using metatranscriptomics and high-throughput sequencing.Results:The complete genome sequences of the DHL10M117 strain, consisting of the S, M, and L gene segments with lengths of 856 bp, 4 309 bp, and 6 869 bp, respectively, were acquired. Phylogenetic analysis indicated that the DHL10M117 strain is an AKV strain, closely related to the AKV strain DHL10M110, isolated from Yunnan. The S and M segment phylogenetic trees revealed that the strain is closely related to AKV strains circulating in southern China and Japan, and distantly related to strains from Australia, suggesting that this strain belongs to the Asian lineage with distinct regional characteristics. Homology analysis confirmed that the gene sequences of the S, M, and L segments of the DHL10M117 strain showed 100% nucleotide and amino acid identity with the DHL10M110 strain. Additionally, the complete genome sequences of the DH10M1019 strain, comprising ten gene segments (Seg-1 to Seg-10) with lengths of 3 950 bp, 2 904 bp, 2 769 bp, 1 978 bp, 1 772 bp, 1 638 bp, 1 165 bp, 1 142 bp, 1 103 bp, and 832 bp respectively, were obtained. Phylogenetic analysis showed that DH10M1019 is a TIBOV strain, with eight gene segments (Seg-1 to Seg-4, Seg-6, Seg-8 to Seg-10) clustering with known strains in the same major branch, while Seg-5 and Seg-7 formed distinct branches, independent of known reference strains, suggesting that DH10M1019 may represent a new serotype of TIBOV.Conclusions:Through complete genome sequence analysis, it was confirmed that DHL10M117 and DH10M1019 are AKV and TIBOV, which provided a scientific basis for the epidemiological characterisation, pathogenicity analysis and investigation of the two viruses.

Objective:The complete genome sequence characteristics of Quang Binh virus (QBV) and Manglie virus (MaV) isolated from mosquitoes in Daluo Town, Menghai county.Methods:Mosquitoes collected in Daluo Town, Menghai county in July 2012 were used for virus isolation. The nucleic acid was extracted from the supernatant of Aedes albopictus cell line (C6/36) showing cytopathic effect (CPE) positivity, and was sent to a company for sequencing after library construction. Phylogenetic and nucleotide/amino acid sequence similarity analysis was performed using DNAStar, Maff, and other softwares.Results:RNA libraries of strains BNDL1205 and BNDL1227 yielded 67 336 692 and 61 259 266 qualified gene sequences (reads) respectively. After assembly and alignment, sequences of lengths 10 865 bp and 10 864 bp were obtained. Sequence analysis indicated that they belong to QBV, with strains BNDL1205 and BNDL1227 clustering with QBV (strain VN180) isolated from Vietnam on the same evolutionary branch, sharing nucleotide similarity of 84.2% and 84.1%, and amino acid similarity of 94.6% and 94.4% respectively. RNA library of strain BNDL1223 yielded 48 622 610 qualified reads. After assembly and alignment, three gene fragments (Contigs) matched MaV. Further merging using SeqMan produced a complete nucleotide sequence of 9 219 bp. Analysis revealed that strain BNDL1223 is closely related to MaV isolated in Yunnan in 2018, sharing nucleotide similarity of 97.8% and amino acid similarity of 99.2%.Conclusions:During the investigation of arboviruses in mosquitoes in Daluo Town, Menghai county, three strains of viruses were identified: 2 strains of QBV and 1 strain of MaV. Local mosquitoes play a significant role in the transmission of QBV and MaV, necessitating enhanced monitoring and detection of local vector mosquitoes.