Spinal muscular atrophy （SMA） is characterized by muscle atrophy and weakness caused by degeneration of the anterior horn cells of the spinal cord， and spinal muscular atrophy with lower extremity predominance （SMALED） accounts for less than 2% of all SMA cases.Due to the rarity of the disease and varying severities of its clinical phenotype， misdiagnosis or missed diagnosis is often observed in clinical practice. In this case， a male patient aged 19 years was admitted due to “weakness in both lower limbs for more than 2 years and aggravation for more than 2 months”. Neurophysical examination showed low muscle strength and muscle atrophy of lower limbs， with negative pathological signs or sensory disorders. Electromyography examination revealed neurogenic damage in both lower limbs， and the clinical and electrophysiological features of the patient were consistent with the features of SMALED. Genetic testing revealed BICD2 gene mutation， and the patient was diagnosed with SMALED2. There was no aggravation of clinical symptoms at follow-up half a year later. This case report aims to improve the understanding and diagnosis of this disease among clinicians.

[摘 要] 目的：探究纺锤体蛋白1（SPIN1）促进胃腺癌细胞迁移与侵袭的分子机制。方法: 通过TCGA数据库数据分析胃腺癌组织中SPIN1 mRNA表达与上皮间质转化（EMT）评分、血管生成评分间的相关性。收集2018年8月至2021年11月期间山东第一医科大学附属省立医院手术切除的52例胃腺癌患者的癌组织制成组织芯片，每例均包含胃腺癌组织、对应癌旁组织及淋巴结转移灶，通过免疫组织化学法检测胃腺癌组织中SPIN1与STAT3的蛋白表达水平及相关性。通过Transwell实验研究干扰SPIN1对胃腺癌细胞侵袭与迁移的影响。使用GEPIA2网站分析SPIN1基因与Janus-激酶/信号转导和转录激活因子（JAK/STAT）通路相关因子在胃腺癌中的表达相关性。通过qPCR法、WB法检测干扰SPIN1后JAK/STAT通路相关mRNA和蛋白的表达变化。结果: TCGA数据库数据分析结果显示，SPIN1表达与EMT评分和血管生成评分呈正相关（均P < 0.05）。SPIN1与STAT3在胃腺癌组织和淋巴结转移灶中表达升高（均P < 0.05），在癌旁胃黏膜组织中阴性表达。SPIN1与STAT3的表达显著正相关（P < 0.05）。干扰SPIN1后胃腺癌细胞的迁移、侵袭能力明显降低（P < 0.05或P < 0.01）。GEPIA2网站分析结果显示，SPIN1基因与JAK1、JAK2、STAT1、STAT2及STAT3表达均呈显著正相关（均P < 0.05）。干扰SPIN1后JAK2、STAT3的mRNA水平下降，而JAK1、STAT1、STAT2的mRNA水平变化不明显。WB法实验结果表明，干扰SPIN1后JAK2、STAT3、p-JAK2及p-STAT3的蛋白表达均显著降低（均P < 0.01），过表达SPIN1后JAK2、STAT3、p-JAK2及p-STAT3的蛋白表达均显著升高（均P < 0.01）。结论: SPIN1可通过参与JAK2/STAT3信号通路促进胃腺癌细胞迁移与侵袭。

The thymus is a key organ for T-cell development and the establishment of central immune tolerance. Research on immune function changes and long-term health risks following thymectomy is characterized by significant population heterogeneity and controversial conclusions. This article systematically reviews the key immunological alterations after thymectomy - including reduced T-cell receptor (TCR) repertoire diversity, regulatory T cell (Treg) dysfunction, accelerated immune aging, and compensatory immune responses, and clarifies population differences in postoperative risks of infection, autoimmune diseases, and tumors, as well as the impact of surgical approaches. The clinical outcome after thymectomy is not solely determined by thymus loss, but rather depends on a dynamic balance between "immune deficiency risk" and "host compensatory capacity," which is modulated by multiple factors such as age at surgery, extent of resection, and individual immune status. This review proposes a "risk-compensation balance model" framework, providing an integrated theoretical basis for explaining the heterogeneity in outcomes across different populations and surgical methods. It also holds significant implications for future efforts in individualized surgical decision-making, establishment of stratified immune monitoring systems, and exploration of targeted immune intervention strategies.

Objective To analyze the economic cost of self-monitoring of gestational diabetes mellitus, and provide a basis for measuring the economic burden of gestational diabetes mellitus, and to provide a reference for the formulation of intervention development and the adjustment of resource allocation. Methods The individual economic cost of self-monitoring for gestational diabetes mellitus was measured based on a decision tree model, and the total economic cost of self-monitoring for gestational diabetes mellitus in Beijing was estimated. The uncertainty of the model parameters was analyzed using one-way sensitivity analysis. Results The average individual economic cost of gestational diabetes self-monitoring was 1184 RMB, and the individual cost incurred by choosing different types of blood glucose meters ranged from 403 to 18 000 RMB. The average individual economic cost of finger-stick blood glucose monitoring was 606 RMB and the average individual economic cost of continuous glucose monitoring was 2 374 RMB. The total economic cost of gestational diabetes self-monitoring in Beijing was 23.818 0 million RMB, and the total economic cost incurred by choosing different types of blood glucose meters ranged from 0.292 5 to 9.027 9 million RMB. The proportion of the finger-stick blood glucose monitoring had the greatest impact on the robustness of the results. Conclusion Finger-stick blood glucose monitoring is still the dominant self-monitoring method and is less costly than continuous glucose monitoring. Self-monitoring of pregnant women with gestational diabetes mellitus incurs certain economic cost and causes an economic burden on society.

Abstract Inhibitor of DNA binding 1(ID1) is a crucial regulator of cell differentiation and plays a significant role in maintaining normal hematopoietic differentiation and development. Due to the lack of DNA-binding motif, ID1 functions as a dominant-negative inhibitor of basic helix-loop-helix factors to antagonize their abilities to bind to DNA and transcriptionally regulate target genes. Abnormal expression of ID1 is strongly associated with various hematologic disorders, including myeloid and lymphoblastic leukemia, multiple myeloma and myeloproliferative neoplasms. ID1 acts as a potential oncogene by participating in multiple signaling pathways that promote the malignant proliferation, invasion and therapy resistance in leukemic cells. Significant strides have yielded promising antileukemic effects of ID1 inhibitors, both alone and in combination with targeted therapies against oncogenic signaling pathways. Here, we review the relationship between ID1 expression and the initiation and progression of blood disorders, and summarize the clinical significance of ID1 as a novel therapeutic target and potential prognostic biomarker for hematologic malignancies.

Objective To summarize and analyze the clinical efficacy of negative pressure suction bell in the treatment of young children (≤6 years) with pectus excavatum. Methods The relevant clinical medical records of the children with pectus excavatum who received negative pressure suction bell treatment in the Outpatient Department of Children’s Hospital of Chongqing Medical University from May 2019 to January 2023 were collected. The age, sex, type, severity, depth of depression, duration of use and prognosis of children with pectus excavatum were retrospectively analyzed. Results A total of 100 pediatric patients were ultimately included in the study, comprising 74 males and 26 females. The age distribution was 57 patients aged 0-3 years and 43 patients aged 3-6 years. All patients were prescribed and used a negative pressure suction device for at least 3 months, after which they returned to our department's outpatient clinic for follow-up. The treatment demonstrated clinical effectiveness in 99 patients, yielding an efficacy rate of 99.00%. The excellent/good rate was 52.00%, and the complication rate was 8.00%. After treatment, the Haller index and the depth of sternal depression were reduced compared with those before treatment (P<0.001), and there was no statistical difference in the effective rate and excellent/good rate between different genders, different ages, different types of pectus excavatum, or different severity (P＞0.05). Conclusion Negative pressure suction bell is safe and effective in the treatment of young children (≤6 years) with pectus excavatum, and the correction effect has nothing to do with gender, type and severity.

Objective To analyze the risk factors and re-intervention strategies for mid- and long-term residual after arterial switch operation (ASO). Methods The clinical data of children with complex congenital heart disease who underwent ASO surgery in Shanghai Children’s Medical Center from January 2006 to June 2022 were retrospectively collected, and the risk factors for mid- and long-term residual after ASO were analyzed. Results A total of 952 children undergoing ASO were enrolled in this study, including 654 males and 298 females with an average age of (102.9±90.1) d and weight of (4.6±1.6) kg. There were 421 patients with D-transposition of the great arteries with intact ventricular septum (D-TGA/IVS), 357 patients with D-transposition of the great arteries with ventricular septal defect (D-TGA/VSD), and 174 patients with right ventricle double outlet combined with subpulmonary ventricular septal defect (Taussig-Bing malformation). Eighty-nine patients died early after the surgery, the mortality rate was 9.3%. The 746 surviving children were regularly followed up after the surgery (follow-up rate 86.4%), with a median follow-up time of 79.4 (12.0-188.0) months. During the follow-up, 53 children underwent surgical re-intervention due to residual, including 33 males and 20 females, with a median age of 62.5 (17.0-214.0) months. The median surgical weight was 19.0 (8.2-86.0) kg, and the mean time of re-intervention was 28.0-170.0 (77.5±45.4) months after the ASO. Residual problems included common trunk and branch stenosis of the pulmonary artery in 23 patients, right ventricular outflow tract (RVOT) obstruction in 11 patients, left ventricular outflow tract obstruction in 6 patients, aortic arch restenosis in 5 patients, aortic insufficiency in 5 patients, residual shunt of ventricular septal defect in 2 patients, and tricuspid valve insufficiency in 1 patient. The early postoperative mortality rate was 3.8% (2/53), with the causes of death being acute myocardial infarction due to coronary artery injury and acute left heart failure, respectively. The mean follow-up time of the surviving children was (52.4±28.6) months, and no mid- and long-term death occurred. Two patients underwent the third operations due to pulmonary restenosis. The multivariate analysis result showed that combined aortic arch surgery and early postoperative RVOT velocity>3 m/s were independent risk factors for mid- and long-term residual after ASO. Conclusion ASO is an ideal procedure for the treatment of D-TGA/IVS, D-TGA/VSD and Taussig-Bing malformations. Combined aortic arch surgery and early postoperative RVOT velocity>3 m/s are independent risk factors for mid- and long-term residual after ASO.

Objective To analyze the clinical efficacy of right midaxillary straight incision surgery in the treatment of doubly committed subarterial ventricular septal defect. Methods The clinical data of children with doubly committed subarterial ventricular septal defect who received surgeries in our hospital from August 2020 to July 2023 were analyzed retrospectively. All the children underwent surgical repair and were divided into two groups according to the incision position, including a right midaxillary straight incision group and a median incision group. The outcomes were compared between the two groups. Results A total of 187 patients were enrolled. There were 102 patients in the right midaxillary straight incision group, including 55 males and 47 females with a median age of 26.0 (5.0, 127.0) months and a median weight of 12.5 (5.1, 32.8) kg at surgery. There were 85 patients in the median incision group, including 37 males and 48 females with a median age of 4.0 (2.0, 168.0) months and a median weight of 6.7 (4.8, 53.9) kg at surgery. No mortality occurred in the study. There was no statistical difference between the two groups in the cardiopulmonary bypass time [(50.0±18.4) min vs. (46.1±15.7) min] or aortic cross-clamping time [(31.3±18.6) min vs. (26.3±17.5) min] (P>0.05). Compared to the median incision group, the time from the end of cardiopulmonary bypass to the closure of chest [(22.3±15.6) min vs. (37.1±13.4) min, P<0.001], postoperative hospital stay [(6.9±3.9) d vs. (8.6±3.6) d, P=0.002], the length of incision [(4.3±2.7) cm vs. (8.5±3.2) cm, P<0.001], drainage volume [(79.0±32.2) mL vs. (100.2±43.1) mL, P<0.001], and the pain score on the 2nd and the 3rd day after the operation were statistically better in the right midaxillary straight incision group (P<0.05). The medical experience and incision satisfaction scores at discharge of the right midaxillary straight incision group were higher (P<0.05). During the follow-up of 21.0 (1.0, 35.0) months, no residual shunt was detected and all patients in both groups had a normal cardiac function and mild or less valve regurgitation. Conclusion Compared to the median incision, minimally invasive right midaxillary straight incision for the repair of doubly committed subarterial ventricular septal defect offers comparable efficacy and reliability, with the added advantages of being minimally invasive, cosmetically superior, and promoting faster postoperative recovery.

Objective To investigate the correlation between serum vitamin D level and central precocious puberty(CPP)in girls.Methods A total of 103 girls(case group)with central precocious puberty from Ningbo Woman and Children's Hospital and 53 healthy girls(control group)from health check-ups in Ningbo Women and Children's Hospital were collected as subjects.The serum levels of 25-hydroxyvitamin D3[25(OH)D3]in the two groups were detected by chemiluminescence method.The weight and height of girls in the case group were measured.The serum levels of follicle-stimulating hormone(FSH)and its peak value,luteinizing hormone(LH)and its peak value,estradiol(E2),prolactin(PRL),human chorionic gonadotropin(HCG)and thyroid function were measured by radioimmunoassay.The peak value of LH/FSH was calculated.B ultrasound examination of uterine adnexa was completed to calculate uterine volume and bilateral ovarian volume.According to the results of serum 25-(OH)D3,girls in the case group were divided into normal vitamin D group and vitamin D deficiency group,and the differences of hormone levels,uterine and ovarian development between the two groups were compared.Results The serum level of 25-(OH)D3 in case group was lower than that in control group,and the vitamin D deficiency rate in case group was higher than that in control group,with statistical significance(P<0.05).The age of breast nodules in vitamin D deficiency group was lower than that in vitamin D normal group(P<0.05).There were no significant differences in body weight,height,body mass index(BMI),uterine volume and left ovarian volume between vitamin D normal group and vitamin D deficiency group(P>0.05),and the right ovarian volume in vitamin D deficiency group was significantly higher than that in vitamin D normal group(P<0.05).There were no significant differences in serum levels of FSH,LH,PRL,HCG,peak value of FSH and thyroid function between normal and deficient groups(P>0.05).The levels of E2,LH and LH/FSH in vitamin D deficiency group were significantly higher than those in vitamin D normal group(P<0.05);25-(OH)D3 was negatively correlated with LH/FSH peak(r=-0.197,P<0.05),but was not significantly correlated with thyroid function,FSH,LH,PRL,E2,HCG,FSH and LH peak(P>0.05).Conclusion Vitamin D deficiency is associated with central precocious puberty in girls.Vitamin D deficiency may lead to early onset of precocious puberty.Vitamin D deficiency may affect the hypothalamic-pituitary-gonadal axis function,resulting in changes in reproductive hormone indexes and consequent increase in ovarian volume in girls.

Objective To investigate the effect of remimazolam on anesthetic effect and postoperative cognitive function during painless bronchoscopy in elderly patients.Methods A total of 90 patients with painless bronchoscopy admitted to Wenzhou People's Hospital were selected.And randomly dividing into 45 patients in control group,45 patients in observation group.The control group was given propofol,and the observation group was given remimazolam.Mean arterial pressure(MAP),heart rate(HR),and blood oxygen saturation(SpO2)were monitored.Effective time after induction,recovery time after withdrawal and discharge time were compared.Patient's cognitive function was assessed using the mini-mental state examination(MMSE),auditory word learning test(AVLT),shape connection test(STT),and animal language fluency test(AFT).Enzyme linked immunosorbent assay(ELISA)was used to determine substance P(SP),C-reactive protein(CRP),noradrenaline(NE),tumor necrosis factor-α(TNF-α)in serum,interleukin(IL)-6 and prostaglandin E2(PGE2)concentrations.Results Compared with the control group,the MAP of the observation group patients at time points T2 and T3 showed statistically significant differences(P<0.05);HR was especially significant at T2,T3 and T6 periods(P<0.05).SpO2 at T2 and T3(P<0.05).The awakening time,discharge time of the observation were shorter than control(P<0.05).At 1 day after surgery,the MMSE score,STT score,AFT score were significantly higher(P<0.05);The serum levels of SP,PGE2 and NE and IL-6,TNF-α and CRP were decreased in the control(P<0.05).The incidence of adverse reactions was 17.78％in control group and 8.89％in observation group(χ2=7.654,P=0.031).Conclusion Remazolam is used in painless bronchoscopy in elderly patients,intraoperative hemodynamics is stable,having little impact on postoperative cognitive function,and inhibits the release of inflammatory factors and the secretion of pain mediators,which is worthy of clinical use.