Intractable epilepsy in children poses significant clinical challenges due to limited efficacy of conventional anti-epileptic drugs (AEDs), leading to persistent neurodevelopmental impairments. This study investigated the therapeutic effects of ketogenic diet (KD), lacosamide (LCM), and their combination on refractory epilepsy, with comprehensive assessment of seizure control, EEG dynamics (including epileptiform patterns and spectral characteristics), cognitive function, lipid metabolism, and endothelial health. Ninety children with refractory epilepsy were divided into three treatment groups: KD (n = 30), LCM (n = 30), and KD + LCM (n = 30). Assessments included detailed EEG characterization (seizure types, interictal discharges, spectral bands), cognitive testing (attention/memory), lipid profiles, and endothelial markers at baseline, 3-, and 6-months post-treatment. The KD + LCM group showed superior seizure reduction at 3/6 months (t = 2.171, P = 0.035; t = 3.177, P = 0.003), with 76.7

To investigate the role of miR-132-5p in the inflammatory response in epilepsy. Peripheral blood was collected from epileptic and healthy children, and the expression of LINC00665 and miR-132-5p was detected by q-PCR. Epilepsy cell models were constructed with microglia, transfected with miR-132-5p inhibitor and NC, and the expression of LINC00665 and miR-132-5p was detected by q-PCR, the expression of TNF-α, IL-1β, and IL-6 in the cell supernatant was detected by ELISA, and the protein levels of NLRP3 and MAPK3 were detected by WB. Finally, the targeting relationship between LINC00665 and miR-132-5p was verified by dual luciferase assay. The expression levels of both LINC00665 and miR-132-5p in the peripheral blood of children with epilepsy were significantly higher than those of healthy children. After transfection of epileptic cells with miR-132-5p inhibitor, the expression levels of LINC00665 and miR-132-5p were increased, and the expression levels of TNF-α, IL-1β, IL-6, NLRP3, and MAPK3 were decreased. Dual luciferase assay showed targeted binding of LINC00665 and miR-132-5p. LINC00665/miR-132-5p attenuates inflammatory responses in epileptic cells by targeting MAPK3.

X-linked lymphoproliferative disease (XLP) is a rare genetic disorder characterized by immune dysregulation. The three most common clinical phenotypes are EBV-associated infectious mononucleosis (FIM), abnormal gammaglobulinemia, and lymphoma. We present a rare case of XLP1 with neurovasculitis, which is non-EBV-related and involves multiple systems, a condition rarely seen in children. The patient initially presented with an unsteady gait, which progressively evolved into language and consciousness disorders. Additionally, CT scans revealed multiple nodules in the lungs. Subsequent genetic testing and brain tissue biopsy confirmed the diagnosis: XLP1-related cerebral vasculitis and cerebral hemorrhage. Tragically, during the diagnostic process, the child experienced a sudden cerebral hemorrhage and herniation, ultimately resulting in fatality. This case offers a comprehensive insight into XLP1-related cerebral vasculitis and cerebral hemorrhage, underscoring the significance of early diagnosis and prompt treatment, while also imparting valuable clinical experience and lessons to the medical community.

During cerebral ischemia/reperfusion (I/R) injury, oxidative stress and inflammation are major contributors to disability. Finding compounds that reduce oxidative stress, inflammation and strengthen the antioxidant defense system properties is one of the vital areas of research. Therefore, the present research aimed to evaluate the effects of resveratrol loaded in copolymer nanoparticles (RES.CP.NPs) on cerebral I/R injury in rats. After preparing and characterization RES.CP.NPs, these platforms were administered to cerebral I/R injured rats at a dose of 20 mg/kg after 2 h occlusion and the neurological disability scores were measured 24 h later. The content of malondialdehyde (MDA), glutathione (GSH), and catalase (CAT) activity as well as the expression levels of TNF alpha, IL-10 and NF-kappa B-p65 in rat brain homogenates were measured. The RES.CP.NPs synthesized in the present study had a spherical structure with a zeta potential of -38 mV and a stable RES release for 72 h. Administration of RES.CP.NPs to I/R rats resulted in significant improvement in neurological disability score, decreased MDA levels, increased GSH content, increased CAT activity, decreased TNF-alpha expression, increased IL-10 expression, and decreased NF-kappa B-p65 expression (P < 0.0001). RES.CP.NPs can have neuroprotective effects in cerebral I/R conditions as a result of their strong antioxidant and anti-inflammatory activities.

目的:探讨儿童热性惊厥与25-羟维生素D3[25-(OH)D3]、白介素-6(IL-6)水平的关系.方法:热性惊厥组选取2017年01月～2022年10月就诊于海南省妇女儿童医学中心确诊为热性惊厥的241例患儿(分为单纯性热性惊厥和复杂性热性惊厥);对照组为就诊于海南省妇女儿童医学中心门诊进行体检、无不适症状的100名健康儿童.所有入组儿童进行血清25-(OH)D3水平、IL-6水平测定,并录入年龄、性别、季节等临床信息.结果:(1)热性惊厥组血清25-(OH)D3水平明显低于健康对照组[分别是(78.77±20.37)nmol/L与(96.55±29.74)nmol/L],两组的差异具有统计学意义(t=?6.359,P<0.001).热性惊厥组血清IL-6水平明显高于健康对照组,两组的差异具有统计学意义(Z=?14.291,P<0.001).(2)复杂性热性惊厥儿童血清25-(OH)D3水平明显低于单纯性热性惊厥儿童,两组的差异具有统计学意义(t=6.612,P<0.05).复杂性热性惊厥儿童IL-6水平高于单纯性热性惊厥儿童,两组的差异具有统计学意义(Z=?10.151,P<0.001).热性惊厥的严重程度在血清25-(OH)D3水平上的差异有统计学意义(χ2=29.83,P<0.001).(3)相关性分析结果显示,血清25-(OH)D3水平与热性惊厥呈负相关(γ=?0.393,P<0.05);而血清IL-6水平与其呈正相关(γs=0.328,P<0.05).(4)热性惊厥儿童在不同季节的血清25-(OH)D3水平无统计学差异(P>0.05).结论:热性惊厥与血清25-(OH)D3、IL-6的水平存在相关性,25-(OH)D3与IL-6可能参与热性惊厥的发病机制.

Background: The interferon-induced protein with tetratricopeptide repeats 1 (IFIT1) gene is strongly associated with disease activity index of childhood systemic lupus erythematosus (SLE). However, whether IFIT1 -regulated gene expression is the molecular basis of the pathogenesis of SLE has not been fully investigated.Methods: Dataset GSE11909 was used to analyze the expression profiles of IFIT1 gene in 103 SLE cases and 12 healthy individuals. Differentially expressed genes (DEGs)-affected by IFIT1 gene were screened between the case group and control group, followed by gene function analysis. The clinical diagnostic potential of the least absolute shrinkage and selection operator (LASSO) model, established based on the expression profiles of IFIT1 and IFIFT1-affected DEGs, was evaluated. Analysis of association between IFIFT1-affected DEGs and immune infiltration was performed.Results: IFIT1 was highly expressed in childhood SLE patients. IFIT1 and IFIT1-affected DEGs showed the potential to serve as a diagnostic marker for childhood SLE with area under the curve (AUC) value of 0.947. Childhood SLE patients showed 826 upregulated DEGs and 4,111 downregulated DEGs compared to the control group. Among them, 208 upregulated DEGs and 214 downregulated DEGs were identified in the IFIT1-high group compared to the IFIT1-low group. The LASSO model for the diagnosis of childhood SLE involved 7 marker genes that were related to immune checkpoint and tertiary lymphoid structure in SLE.Conclusions: Our results confirmed the clinical diagnostic potential of IFIT1 and IFIT1-affected genes in childhood SLE. Moreover, this study elucidated that IFIT1-induced changes in the transcriptome are involved in immune checkpoint and tertiary lymphoid structure in childhood.

患儿 女，5岁5月龄，因“皮肤咖啡牛奶斑5年余，跛行伴易跌倒1年余”就诊，临床表现为运动障碍、颈部包块、全身多处咖啡牛奶斑、脊柱侧弯，超声和影像学检查提示多发不规则团块状软组织信号，诊断1型神经纤维瘤病。口服司美替尼（2次/d，早20 mg，晚10 mg）治疗第37天颈部包块肉眼可见缩小，走路易跌倒明显减少，跛行、脊柱侧弯减轻，咖啡牛奶斑颜色变淡、范围缩小；治疗第57天后走路再无跌倒现象。.

Background Developmental and epileptic encephalopathy (DEE) is a group of rare inherited disorders characterized by intellectual disability, delayed development, epileptic seizures, and other related symptoms. DEE44 is caused by mutations in the UBA5 gene, which encodes a ubiquitin-like protein involved in protein degradation and cell signaling. However, there is limited information on the genotype–phenotype correlation of DEE44, and its clinical features remain to be fully characterized. Case presentation We report a 12-month-old infant who presented with epileptic spastic seizures beginning at 4 months of age, accompanied by overall developmental delay, short stature, microcephaly, inability to hold his head upright, chasing vision, and high muscle tone in the extremities. Genetic findings showed compound heterozygous mutations of the UBA5 gene: NM_024818 c.562C > T(p.R188X) from the mother and NM_024818 c.214C > T(p.R72C) from the father. Conclusions This case report expands the clinical spectrum of DEE44 and highlights the importance of considering DEE44 in the differential diagnosis of developmental delay and epilepsy, even in the absence of classical symptoms suggestive of the condition. We hope that this case report will advance the understanding of DEE44 and improve the expertise of clinicians and early diagnose of this disease.

Objective: To objectively evaluate the feasibility and significance of OSCE in the pediatric rotation practice assessment. Methods: OSCE (include three examinations: case examination, physical examination and clinical skills examination) was conducted for the 19th five-year clinical pediatrics students of Hainan Medical College, and a questionnaire survey was conducted for examiners and candidates after the assessment. Results: The OSCE results of the 19th five-year clinical pediatrics graduates of Hainan Medical College were in line with the normal distribution. All of the 100 OSCE forms scores were more than 75 points. The difference between the pass rate and the excellent rate in the three assessments was statistically significant (x2=10.899, P=0.004). The pairwise comparisons between groups indicated that the excellent rate of physical examination and skill assessment were higher than that of case assessment, and the differences were statistically significant (x2 was 8.303 and 5.531 respectively, and P was 0.004 and 0.019 respectively). The difference between the average score of the OSCE (91.39±4.42) and the traditional written test (80.64±4.20) was statistically significant (t=11.478, P<0.001). The results of the questionnaire survey showed that pediatric medical students lacked solid clinical basic skills and clinical thinking. Conclusion: OSCE can objectively and effectively evaluate the clinical ability of pediatric medical students and promote their learning enthusiasm, which is worth promoting.

药物超敏反应综合征(drug induced hypersensitivi-ty syndrome,DIHS)是药物引起的严重皮肤不良反应,其潜伏期较长,具有潜在的致死风险.化脓性脑膜炎是婴幼儿常见的中枢神经系统感染性疾病,苯巴比妥所致的DIHS出现在儿童化脓性脑膜炎的恢复期鲜有报道.现报告海南省妇女儿童医学中心于2020年7月收治的1例DIHS,其潜伏期长,过程曲折,并复习相关文献,以加深对该病的认识.

Background: To systematically collect, critically evaluate, and synthesize current evidence with respect to the efficacy, safety, and tolerability of levetiracetam as mono- or adjunctive therapy for children and adolescents with all types of epilepsy. Methods: The presentation of methods and results in this systematic review was performed according to the evaluation guidelines for health care interventions provided in the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocol. Literature retrieval will use the Cochrane Library, Web of Science, PubMed, Embase, Allied and Complementary Medicine Database, China Biomedical Literature Database, China National Knowledge Infrastructure, China Science and Technology Journal Database, Wanfang Database, and Ongoing Clinical Trials Database. The risk of bias of included studies is estimated by taking into consideration the characteristics including random sequence generation, allocation concealment, blinding of patients, blinding of outcome assessment, completeness of outcome data, selective reporting and other bias by Cochrane Collaboration's tool. Data synthesis and analyses are performed using RevMan 5.4 software. Results: The results of this systematic review and meta-analysis will be published in a peer-reviewed journal. Conclusion: Levetiracetam seems to be effective and safe for the treatment of pediatric epilepsy.

Background: There are limited data regarding the prevalence and risk factors relating to vitamin D deficiency (VDD) in children of Hainan, a tropical city with abundant sunlight in China. To gather and analyze the serum VD levels of healthy children in Hainan, so as to understand their VD nutritional status and improve the representative data of VD nutritional status in South China. Methods: Children who presented to the outpatient clinic for physical examination at 4 hospitals in the Hainan Province from 2012 to 2020 were enrolled in this study. The serum 25-hydroxyvitamin D (25-OHD) levels was analyzed. 25-OHD levels <50 nmol/L is considered VDD, 50-75 nmol/L is vitamin D insufficiency (VDI), and >= 75 nmol/L is VD sufficient (VDS). Results: The average serum 25-OHD level was 94.63 +/- 49.99 nmol/L [95% confidence interval (CI): 93.67-95.60]. VDD was detected in 13.98% of participants (1,435 cases), VDI was detected in 30.60% of participants (3,140 cases), and 55.42% presented with VDS (5,687 cases). The average 25-OHD level of boys was significantly higher than that of girls (t=3.67, P<0.001). The average serum 25-OHD levels in the following age groups 0-1, 1-3, 3-7, 7-14, and 14-18 years were 105.92 +/- 57.39, 100.55 +/- 53.22, 86.35 +/- 39.19, 73.61 +/- 34.21, and 54.97 +/- 19.19 nmol/L, respectively. These results suggested that with an increase in age, the 25-OHD levels decreased. The average 25-OHD levels of children with a body mass index (BMI) <85(th) percentile were significantly higher than that of children in the overweight and obese group (F=7.393, P=0.001). Conclusions: A certain proportion of all age groups showed vitamin D deficiency and insufficiency in Hainan. A formal recommendation for vitamin D supplementation should be considered, especially in autumn and winter seasons for children over 7 years old, and in those with BMI >= 85(th) percentile or BMI >= 95(th) percentile.

Purpose: To investigate the efficacy and safety of mycophenolate mofetil (MMF) combined with lowdose steroids in the treatment of pediatric systemic lupus erythematosus (pSLE).Methods: A total of 76 children were diagnosed and admitted with SLE, lupus nephritis (LN) and type IV diffuse proliferative glomerulonephritis at Hainan Women and Children’s Medical Center, Haikou, China from March 2017 to December 2018, had their clinical data analyzed retrospectively. Among them, 38 children received methylprednisolone pulse combined with MMF and intermittent oral low-dose glucocorticoids (GC), labelled MMF group, while the remaining 38 children, which served as control group, were treated with oral GC and transitional reduction. Pertinent biochemical parameters were evaluatedResults: Compared with control group, MMF group showed a notably lower level of erythrocyte sedimentation rate (ESR), a higher level of complement C3, lower level of serum creatinine (Scr) and 24-h urine protein level 6 months after treatment (p < 0.05). Albumin level was higher in MMF group at 6 months and 12 months after treatment than in the control group. Compared to control group, the SLEDAI score in MMF group was significantly lower at 6 months and 12 months after treatment (p < 0.05). Body mass index, triglyceride, fasting blood glucose and intraocular pressure levels in the MMF group were significantly lower than those in the control group (p < 0.05). Post-treatment, peripheral blood CD3+ and CD4+ T lymphocytes, CD4+/CD8+ ratio and NK cell levels in the two groups were significantly increased, while CD8+ T lymphocyte level declined.Conclusion: MMF combined with low-dose methylprednisolone controls symptoms early and mitigates renal injury in the treatment of pSLE. It is also safe, and effectively regulates the patient's cellular immune function.

The clinical data of a child with chemical pneumonia caused by kerosene in Hainan Maternal and Children′s Medical Center in June 2019 were retrospectively analyzed.The patient was a 2 years and 1 month old boy with a history of kerosene inhalation and fever.The clinical features included low breath sounds in the left lung and dry and wet rales in both lungs.The white blood cells (WBC) level, C-reactive protein (CRP) level, and erythrocyte se-dimentation rate (ESR) were significantly increased.Chest CT showed inhalation pneumonia.Chest ultrasound suggested medium pleural effusion on the left side.The patient was given antibiotics, nebulization and other treatment.On the 12 th day of the course of the disease, his temperature returned to normal, and breath sounds on the left side were stronger than before.The WBC level, CRP level and ESR were improved according to the re-check results, but pulmonary ventilation was still obstructed mildly to moderately.Fourteen days after hospital discharge, the patient coughed less.Reexamination of chest CT prompted the lesions were further absorbed, but the mild to moderate obstructive lesions were still observed.With the reduction of kerosene use in daily life, kerosene-induced chemical pneumonia is rare, but due to its diverse and complex clinical manifestations and slow absorption of pulmonary inflammation, attention should be paid to its progression into chronic cough.

目的 研究我国白血病合并结核病的患病率、病死率、临床表现和治疗效果,为今后白血病合并结核病的早期诊断及有效治疗提供依据.方法 以“白血病”“结核”“化疗”以及“leukemia”“tuberculosis”“chemotherapy”为检索词,在中国知网、重庆维普数据库、万方电子期刊数据库以及Pubmed数据库检索,时间截止到2018年7月.结果 符合白血病合并结核病纳入标准的病例共229例,其中肺结核200例,肺外结核29例;急性淋巴细胞白血病64例,急性髓系白血病151例,慢性淋巴细胞白血病4例,慢性髓系白血病10例.男女比例为1.2∶1,平均年龄为43.9岁.临床特点:229例病例中204例(89.1％)以发热为首要临床表现,120例(52.4％)表现为持续高热,表现为低热、盗汗、消瘦的分别有13例(5.7％)、30例(13.1％)、36例(15.7％);184例(80.3％)结核病例通过影像学检查确诊,109例(47.6％)结核菌素(PPD)试验阳性,98例(42.8％)诊断性抗结核治疗有效,24例(10.5％)痰结核菌检查阳性,18例(7.9％)病理活检阳性,3例T细胞斑点(T-spot)试验阳性,2例支气管镜冲洗液涂片阳性,1例结核杆菌PCR测定阳性.135例行抗结核治疗,其中107例治疗有效,有效率79.3％.6例因结核病死亡,归因病死率为2.6％(6/229).结论 白血病患者合并结核病概率较普通人群高,早期临床表现和体征不典型,多方面寻找结核感染证据、早期诊断和规范治疗是降低其病死率的关键.

目的:分析1例隐性营养不良型大疱性表皮松解症患者的家系遗传及COL7A1基因突变情况.方法:收集临床资料,提取患儿及其父母外周血DNA,利用GenCap目标基因技术对患儿全基因组外显子区域DNA捕获并富集,再利用Illumina HiSeq 2 000第二代测序仪进行测序,与正常人进行数据比对分析,采用Sanger测序法进行验证.结果:患儿COL7A1基因第104号外显子出现7769delG纯合突变,该突变分别遗传自父母,父母该位点有杂合变异,父母及其家系中其他成员表型均正常.结论:该例患儿诊断为严重泛发型隐性营养不良型大疱性表皮松解症,致病机制为COL 7A1基因出现纯合突变,产生提早终止密码.

Objective To detect the single nucleotide polymorphism (SNP) at locus 1 165 of β1-adrenoceptor (β1-AR) and to investigate the association between the SNP and the infection by enterovirus A71 (EV-A71).Methods Polymerase chain reaction (PCR) amplification technique was used to detect the SNP at locus 1 165 of β1-AR between hand,foot and mouth disease (HFMD) and healthy controls by sanger sequencing method.Results There was a G1165C SNP and three kinds of genotypes (GG,GC,CC) in β1-AR gene in the 77 cases of EV-A71 HFMD patients and 66 cases of healthy controls.For HFMD patients,frequencies of GG,GC and CC genotypes of the G1165C locus were 10％,47％ and 43％,respectively,and alleles frequency of G and C were 34％ and 66％,respectively.But in healthy children,GG,GC,CC genotype frequencies were 7％,41％ and 52％,respectively,and G and C allele frequencies were 28％ and 72％ respectively.Chi-square analysis showed that there were no significant differences in distribution of genotypes (x2 =1.154,df=2,P =0.562) and alleles frequency (x2 =1.091,df=2,P =0.296) between the EV-A71-infected group and the healthy control group.Between mild and severe EV-A71-infected group,there were no significant differences in distribution of genotypes (x2 =3.945,df =2,P =0.139) and alleles frequency (x2 =3.763,df =2,P =0.052).Conclusions The 1 165 SNP in the coding region of β1-AR was not associated with EV-A71 infection and its severity.

Objective To research the diagnostic value of serum neuron specific enolase (NSE) and catecholamine (CA) levels to severe hand foot mouth disease (HFMD) in children,and to provide reference for clinical evaluation of HFMD severity.Methods Totally 110 HFMD childen hospitalized in the Maternal and Child Health Care Hospital of Hainan Province from January 2014 to December 2015 were enrolled in this study.According to the Guide for the Diagnosis and Treatment of HFMD established in 2010 by the ministry of health,110 HFMD children were divided into mild group (44 cases),severe severe group (44 cases) and critical severe group (22 cases).The levels of NSE and CA were tested and compared among three groups.And the relationship between the levels of NSE,CA and the severity of HFMD was analyzed.Results 1)The levels of NSE and epinephrine(E),dopaminel (NE) in severe group were significantly higher than those in the mild group (P＜0.05).2) The levels of NSE and E,NE,DA in critical severe group were significantly higher than those in the severe severe group (P＜0.05).3)The levels of NSE,E,NE,DA levels were positively related to the severity of HFMD (r=0.366,0.590,0.425,0.345,all P＜0.05).Conclusion The levels of NSE and NE would increase with the disease progressing.And the levels of NSE and NE can be used as a reference indicator to assess the severity of HFMD.

系统性红斑狼疮(SLE)是一种能够影响全身器官的自身免疫性疾病,其对抗细胞及组织的异常免疫反应促进了疾病的发展,导致炎症及组织损伤.SLE临床表现复杂,容易反复,预后较差.尽管目前已有不少关于SLE病理生理学的研究,但是其确切的分子机制仍不清楚.近年来有许多关于SLE的表观遗传学机制研究深入分析了SLE的发病机制,且对SEE的早期诊断与治疗提出了新方向.本文就SLE表观遗传学机制的研究进展作一综述,以期为SLE相关研究提供理论依据.

Enterovirus 71 (EV71) has a high degree of nerve absorption and which is an important neurotoxic pathogen causing severe hand,foot and mouth disease and central nervous system(CNS) diseases.EV71 infection is at a high incidence in Asia Pacific region.The CNS damage caused by EV71 mainly includes aseptic meningitis,encephalitis,brain stem encephalitis,acute flaccid paralysis,etc,which has a high mortality and poor prognosis,while its injury mechanism is not clear.Now,EV71 related etiology,epidemiology,pathogenesis of CNS damage caused by EV71 infection and EV71 vaccine research progress were summarized,in order to provide theoretical basis for EV71 related studies.