ObjectiveTo investigate and analyze the distribution characteristics and genetic variation of mitochondrial encephalomyopathy (ME) in children in Hainan province.MethodsAccording to the principle of capture-recapture (C-R) method, a mathematical model was established to investigate suspected and confirmed cases of ME in children treated in Hainan Province from January 2012 to January 2023. The representative hospitals in Haikou and Sanya were selected as sample sources. The Morava mitochondrial disease criteria scale was used for the initial screening of children suspected of having ME. Subsequently, further follow-up and comprehensive gene sequencing were conducted to identify confirmed ME cases. Finally, the confirmed cases were aggregated and incorporated into the mathematical model to estimate the prevalence of ME among children in Hainan Province, and their genetic variation characteristics were also analyzed.ResultsA total of 238 children with suspected ME were screened using the Morava scale, and 64 children with ME were diagnosed through gene sequencing. The prevalence of ME in children in Hainan Province was estimated to be 5.58/100 000(95% CI: 3.12/100 000-8.04/100 000) by taking the confirmed cases from the survey into the C-R mathematical model. A total of 13 disease types were involved in the confirmed cases. There were 32 cases of mtDNA mutation, involving 10 pathogenic genes. Additionally, there were 32 cases of nDNA variation, involving 23 pathogenic genes. A total of 21 new mutation sites were found, and pathogenicity analysis was performed on 14 variants of uncertain significance among them. Apart from 3 mutations for which the evidence of pathogenicity was still insufficient, the remaining mutations were predicted by the computer to be harmful and associated with alterations in protein structure. Conclusions This study estimated the prevalence of a regional rare disease (ME in children in Hainan Province) based on the principle of the C-R method, providing references for further large-scale rare disease investigations in China. The comprehensive use of the Morava scale, genetic sequencing, and pathogenicity analysis tools is helpful for clarifying the characteristics of genetic variations in children with ME and achieving early diagnosis and treatment.

Background Mitochondrial encephalomyopathy (ME) significantly impacts patient quality of life (QoL) and imposes burdens on caregivers. This study examined disease burden, financial strain, QoL, disability levels, and caregiver burden among patients with ME to identify critical relationships. Methods A cross-sectional study was conducted on ME patients and caregivers at Haikou Affiliated Hospital of Xiangya Medical College, Central South University, utilising validated scales including CHU-9D, PedsQL, PHQ-9, and CBI to evaluate disease burden, QoL, disability, and caregiver burden. Data were analysed using descriptive statistics and correlation coefficients to assess the relationships between these factors. Results A total of 27 patients with ME were identified, with a mean age of 10.14 years, 88.9% of whom were children. The cohort comprised 18 (66.7%) males and 9 (33.3%) females, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and Leigh syndrome were the most common subtypes. Significant correlations were found between QoL scores and caregiver burden, with CHU-9D showing negative correlations with PHQ-9 and CBI and positive correlations with PedsQL and health utility scores. Additionally, 44.4% of patients reported severe financial burdens, and 57.7% of caregivers experienced moderate to severe levels of burden. Conclusion Our findings highlight the complex relationships between financial strain, QoL, and caregiver burden in ME. This underscores the need for comprehensive, patient-centered care and targeted policy interventions to alleviate patient and caregiver burdens. Further research is essential to develop effective support systems and improve overall outcomes.

AbstractBackgroundGut microbiota are closely related to the development and regulation of the host immune system by regulating the maturation of immune cells and the resistance to pathogens, which affects the host immunity. Early use of antibiotics disrupts the homeostasis of gut microbiota and increases the risk of asthma. Gut microbiota actively interact with the host immune system via the gut‐lung axis, a bidirectional communication pathway between the gut and lung. The manipulation of gut microbiota through probiotics, helminth therapy, and fecal microbiota transplantation (FMT) to combat asthma has become a hot research topic.BodyThis review mainly describes the current immune pathogenesis of asthma, gut microbiota and the role of the gut‐lung axis in asthma. Moreover, the potential of manipulating the gut microbiota and its metabolites as a treatment strategy for asthma has been discussed.ConclusionThe gut‐lung axis has a bidirectional effect on asthma. Gut microecology imbalance contributes to asthma through bacterial structural components and metabolites. Asthma, in turn, can also cause intestinal damage through inflammation throughout the body. The manipulation of gut microbiota through probiotics, helminth therapy, and FMT can inform the treatment strategies for asthma by regulating the maturation of immune cells and the resistance to pathogens.

Cancer is the main cause of death in the world. There are several therapies that are in practice for cancer cure including radiotherapy, chemotherapy, and surgery. Among the chemotherapies, natural products are considered comparable safe, easily available and cost effective. Approximately 60% of cancer approved FDA drugs are natural products including vinblastine, doxorubicin, and paclitaxel. These natural products have complex structures due to which they work against cancer through different molecular pathways, STAT3, NF-kB, PI3K/AKT/mTOR, cell cycle arrest, mitochondrial dependent pathway, extrinsic apoptosis pathway, autophagy, mitophagy and ferroptosis. AA is a natural abietane diterpenoid compound from Pinus palustris and Pimenta racemose var. grissea with different pharmacological activities including anti-inflammatory, anti-convulsant, anti-obesity and anti-allergic. Recently it has been reported with its anticancer activities through different molecular mechanisms including NF-kB, PI3K/AKT, call cycle arrest at G0/G1 phase, mitochondrial dependent pathway, extrinsic apoptosis pathway, AMPK pathway and ferroptosis pathways. The literature survey reveals that there is no review on AA anticancer molecular mechanisms, therefore in current review, we summarize the anticancer molecular mechanisms of AA.

Ranunculus hirtellus, also known as crowfoot (buttercup), has a rich tradition of use in various biological contexts. While antibacterial studies on extracts from this plant have been conducted, the phytochemical composition, antioxidant properties, and antidiabetic effects remain unexplored. In this study, the phytochemical, antioxidant, and antidiabetic effects of its methanol and aqueous extracts were investigated. Our approach involved gas chromatography-mass spectrometry (GC/MS), alongside quantitative and qualitative methods, for phytochemical profiles. Additionally, concerning biological activities, the antioxidant effect was assessed through 2, 2-diphenyl-pieryl hydrazyl (DPPH) and 2, 2 '-azino-bis (3-ethylbenzothiazoline-6-sulfonate) (ABTS) assays, while the antidiabetic effect was examined through the alpha-amylase inhibitory assay. The chloroform, ethyl acetate, and n-hexane extracts of R. hirtellus revealed the presence of 14 distinct compounds. In the methanol extract, sterols, quinones, glycosides, lactones, lignin, and flavonoids were identified. The aqueous extract contained sterols, alkaloids, glycosides, triterpenes, terpenoids, quinones, leucoanthocyanins, and lactones. The total flavonoid content (TFC), total phenolic content (TPC), total tannin content (TTC), and reducing sugar content (RDC) were determined in plant extracts, and a linear relationship was found between these parameters. Additionally, the TTC, TPC, and TFC values for both extracts hovered around 0.3786, 0.0476, and 0.1864 mu g/mL, respectively, across all plant concentrations, while RDC ranged from 0.9336 to 1.0119 mu g/mL in all four extracts. In vitro assays demonstrated dose-dependent antidiabetic activity in both methanolic and aqueous extracts by inhibiting alpha-amylase. Furthermore, the antioxidant activity observed in the DPPH assay was greater in the aqueous extract compared with the methanolic extract. In addition, the ethyl acetate extract exhibited the highest inhibition among chloroform and n-hexane in the ABTS assay. The results suggest that R. hirtellus can be a potential source of natural antioxidants and antidiabetic agents, and further studies are warranted to investigate the underlying mechanisms of its therapeutic effects.

目的 报告2例1型神经纤维瘤病(neurofibromatosis type 1,NF1)患儿的临床表现特点及基因检测结果,结合NF1现有诊疗进展,为NF1患儿的综合诊疗及随访提供参考.方法 选择海口市人民医院儿童医学部2022年5月、6月收治的2例NF1患儿,分析其临床表现、实验室检查、基因检测结果、诊治及随访等资料.结果 2例患儿均有典型的皮肤咖啡牛奶斑、腋窝雀斑、眼内虹膜错构瘤等临床表现,采集病例1患儿及其父母静脉血送检NF基因检测,发现NF1基因新生变异c.4084C＞T,其父母无致病基因.采集病例2患儿静脉血送检全外显子组基因分析,发现NF1基因上1个杂合无义变异c.910C＞T:p.R304,Sanger测序验证该变异遗传自母亲,母亲有皮肤咖啡牛奶斑及脑部胶质瘤,已行胶质瘤切除术,目前未行放化疗及靶向治疗.随访至2022年7月2例患儿均未检测出神经系统恶性肿瘤.结论 NF1临床表现相对典型,基因检测有利于确定分型,定期随访复查有助于对恶性肿瘤早发现早治疗,提高患者的生存质量.

Objective encephalopathy due to defective mitochondrial and peroxisomal fission-1（EMPF1）.MethodsThe clinical data and genetic test results of a patient with EMPF1 admitted to the Department of Pediatrics, the Affiliated Hospital of Xiangya Medical College of Central South University in August 2020 were retrospectively analyzed.ResultsAn 8-year-old girl, her main clinical features were developmental regression, microcephaly, hypotonia, refractory epilepsy, cranial MRI suggesting brain atrophy and abnormal signals in the right temporal-occipital-parietal cortex, aEEG showing slow wave discharge in the right hemisphere; Whole-exome sequencing of families suggested that the child had a heterozygous missense variant at the c.1040C＞G site in the DNM1L gene and the verification results by Sanger sequencing showed that her parents had no variant in this site,which was a novel mutation in accordance with autosomal dominant inheritance; bioinformatics analysis predicted that the mutation was pathogenic. After 2 years of outpatient follow-up, the patient’s condition was stable after mitochondrial cocktail therapy and antiepileptic drugs, no epileptic seizure occurred in the past year, mental state and swallowing function improved,and she could be fed orally with occasional nausea and vomiting.ConclusionsThe main clinical manifestations of EMPF1are psychomotor developmental delay or regression, dystonia, limb paralysis, epilepsy and so on. According to the clinical phenotype and genetic test results, the rare disease can be diagnosed early.

Objective To investigate the clinical phenotype and genotype characteristics of mitochondrial encephalomyopathy（ME） families in children.Methods The clinical data and genetic test results of eleven ME families who were admitted to the department of pediatrics of three tertiary hospitals in Hainan Province from January 2007 to December2021 were retrospectively analyzed.Results A total of 13 cases were diagnosed in eleven ME families, including 6 males（46.15%） and 7 females（53.85%）. The age of onset ranged from 6 months to 12 years, the interval from onset to diagnosis was 9months to 8 years and Morava score was 6-11. Clinical symptoms mainly included abnormal movement, developmental retardation or regression, seizures, stroke-like episodes; among the 13 children, 11（84.62%） had elevated blood lactic acid and4（30.77%） had elevated blood creatine kinase. Cranial MRI mainly involved temporal parietal occipital lobe, cerebellum,brainstem and basal ganglia, some with brain atrophy. Gene detection showed that 8 families（72.72%） were caused by mtDNA mutation, of which 5 families and 6 patients were caused by MT-TL1, m.3243A＞G, and 5 asymptomatic carriers of 4 families（80.00%） were detected; MT-ND5, m.13513 G＞A was detected in 2 families and 3 patients, and an asymptomatic mutation carrier was detected in a family（50.00%）; MT-ND3, m. 10191T＞C was detected in one family and one patient, and 2asymptomatic mutation carriers were detected. Three families were caused by nDNA mutations（27.27%）. A compound heterozygous mutation of c.751C＞T and c.516-2A ＞G in SURF1 gene was found in one family and one patient, which followed autosomal recessive inheritance. The pathogenic loci were inherited from mother and father, respectively. Two new spontaneous mutations c.1040C＞G and c.2060＿2062delTAG in DNM1L gene were respectively detected in two families and two patients.All children were given mitochondrial cocktail therapy and symptomatic treatment after diagnosis by genetic testing. Follow-up to June 2022, two families were lost to follow-up and 9 families were followed up regularly; three of the 11 children were still survived.Conclusions For children diagnosed with ME, genetic testing of family members can screen out early asymptomatic pathogenic mutation carriers, achieve early diagnosis of ME and guide clinical genetic counseling. Two new pathogenic sites of DNM1L gene were found in this study, which expanded the genotype spectrum.

α-酮己二酸尿症为赖氨酸、羟赖氨酸和色氨酸降解代谢紊乱所致的遗传代谢病,临床表现轻重不一,受累系统广泛,主要临床表现有生长发育迟缓、肌张力减退、癫痫、共济失调、小头畸形、行为异常等.本例患儿2岁8月龄,表现为抽搐和行为异常,尿有机酸分析示α-酮己二酸明显增高,基因遗传学检测发现DHTKD1基因存在致病复合杂合变异,结合患儿临床特征和遗传学特点,确诊为α-酮己二酸尿症.经低赖氨酸、低蛋白饮食和康复治疗等对症处理后,患儿病情有所改善.该病临床罕见,为国内医学数据库首例报道.本病例报道扩充了 α-酮己二酸尿症基因谱,也为临床上该病的诊治提供借鉴与参考.

Objective:To study the roles of resveratrol in reducing neuroinflammation and improving neurobehavioral functions after germinal matrix hemorrhage (GMH) in neonatal rat model.Methods:GMH model was established intraparenchymally injecting bacterial collagenase in 7-day-old SD rats. 108 rats were randomly assigned into 18 groups (6 in each group), including 4 sham groups, GMH (12 h, 24 h, 72 h, 7 d) groups, 3 GMH+vehicle (dimethylsulfoxide, DMSO) groups, 5 GMH+resveratrol (10 mg/kg, 100 mg/kg, 1 000 mg/kg) groups and 2 GMH+resveratrol+EX527 (SIRT1 inhibitor) groups. Negative geotaxis and righting reflex tests were used to evaluate the short-term neurobehavior. Water maze, foot fault and Rotor-Rod tests were used to assess the long-term neurobehavior. Immunofluorescence was used to quantify the IL-1β and MPO positive cells (inflammatory markers) in peri-hematoma area. Western blot was used to evaluate the expression of relevant proteins in the brain.Results:Endogenous sirtuin-1(SIRT1) decreased to the lowest level at 24 h and then increased gradually. Phosphorylated NF-κB increased at 12 h, peaked at 72 h and returned to normal level at 7 d after GMH. Compared with the control group and other doses groups, GMH treated with resveratrol (100 mg/kg) had higher short-term behavioral scores at 48 h and 72 h. Compared with the control group, the resveratrol (100 mg/kg) group also had higher scores in water maze, foot fault and Rotor-Rod tests 22 days later. Immunofluorescence showed less positive IL-1β and MPO cells around hematoma in GMH+resveratrol group than both GMH+vehicle group and GMH+resveratrol+EX527 group. Western blot indicated that IL-1, TNF-α and IL-6 expressions were decreased in GMH+resveratrol group and Ex527 could offset the effects of resveratrol.Conclusions:Resveratrol (optimal dose: 100 mg/kg) can improve the short-term and long-term neurobehavioral functions of neonatal GMH rats. It can reduce GMH cells with positive inflammatory markers around the hematoma, possibly via inhibition of the SIRT1/NF-κB pathway. Resveratrol may be promising for the treatment of GMH patients.

目的 探讨基因拷贝数变异致罕见遗传病患儿的临床表现及基因拷贝数变异检测在罕见遗传病诊断中的价值.方法 回顾分析2013年2月至2021年2月就诊于中南大学湘雅医学院附属海口医院儿科的25例基因拷贝数变异致罕见遗传病患儿的临床表现,并将其分为染色体微缺失/微重复综合征组和单基因遗传病组,使用Fisher确切概率法统计患儿临床表型在两组出现频率的差异.结果 25例患儿中,男性12例(48.00％),女性13例(52.00％);平均发病年龄为(1.20±2.24)岁;起病形式不同,急性起病7例(28.00％),慢性起病18例(72.00％).25例患儿临床表型复杂多样,主要有12种.将其分为两组,分别为17例染色体微缺失/微重复综合征(68.00％),8例单基因遗传病(32.00％);"生长发育迟缓/智力低下""面容异常"和"先天畸形"三种临床表型的差异在两组之间具有统计学意义.25例患儿中有23例(92.00％)首先行基因全外显子测序,未发现致病性点突变,进一步行基因拷贝数变异检测明确诊断;2例(8.00％)则直接行拷贝数变异检测明确诊断.结论 基因拷贝数变异致罕见遗传病大部分在婴幼儿时期起病,男性与女性发病率大致相同,其涉及病种多,临床表型复杂,"生长发育迟缓/智力低下""面容异常"和"先天畸形"三种临床表型在染色体微缺失/微重复综合征出现的概率高.基因拷贝数变异检测是诊断罕见遗传病的重要手段,可作为基因全外显子测序的补充,从而在一定程度上提高罕见遗传病的诊断水平.

Clinical data of a child with Traboulsi syndrome diagnosed in Affiliated Haikou Hospital of Xiangya Medical College, Central South University in November 2019 were retrospectively analyzed.A 9-year-old female patient presented with vision loss for 3 years.Ectopic lens and a special facial appearance were the main manifestations.Genetic testing showed a homozygous mutation at the c. 1126C > T site of the ASPH gene in the present case, and finally, Traboulsi syndrome was diagnosed.The clinical manifestation of Traboulsi syndrome is not typical.Mastering the main diagnostic points is helpful to improve the efficacy of clinical diagnosis and treatment.c.1126C>T mutation of the ASPH gene has not been reported in China and abroad.It is a newly discovered mutation that enriches the ASPH gene spectrum.

Abstract Background Microglia-mediated neuroinflammation plays a crucial role in the pathogenesis of hypoxic-ischemic (HI)-induced brain injury. Activation of melanocortin-1 receptor (MC1R) has been shown to exert anti-inflammatory and neuroprotective effects in several neurological diseases. In the present study, we have explored the role of MC1R activation on neuroinflammation and the potential underlying mechanisms after neonatal hypoxic-ischemic brain injury in rats. Methods A total of 169 post-natal day 10 unsexed rat pups were used. HI was induced by right common carotid artery ligation followed by 2.5 h of hypoxia. BMS-470539, a specific selective MC1R agonist, was administered intranasally at 1 h after HI induction. To elucidate the potential underlying mechanism, MC1R CRISPR KO plasmid or Nurr1 CRISPR KO plasmid was administered via intracerebroventricular injection at 48 h before HI induction. Percent brain infarct area, short- and long-term neurobehavioral tests, Nissl staining, immunofluorescence staining, and Western blot were conducted. Results The expression levels of MC1R and Nurr1 increased over time post-HI. MC1R and Nurr1 were expressed on microglia at 48 h post-HI. Activation of MC1R with BMS-470539 significantly reduced the percent infarct area, brain atrophy, and inflammation, and improved short- and long-term neurological deficits at 48 h and 28 days post-HI. MC1R activation increased the expression of CD206 (a microglial M2 marker) and reduced the expression of MPO. Moreover, activation of MC1R with BMS-470539 significantly increased the expression levels of MC1R, cAMP, p-PKA, and Nurr1, while downregulating the expression of pro-inflammatory cytokines (TNFα, IL-6, and IL-1β) at 48 h post-HI. However, knockout of MC1R or Nurr1 by specific CRISPR reversed the neuroprotective effects of MC1R activation post-HI. Conclusions Our study demonstrated that activation of MC1R with BMS-470539 attenuated neuroinflammation, and improved neurological deficits after neonatal hypoxic-ischemic brain injury in rats. Such anti-inflammatory and neuroprotective effects were mediated, at least in part, via the cAMP/PKA/Nurr1 signaling pathway. Therefore, MC1R activation might be a promising therapeutic target for infants with hypoxic-ischemic encephalopathy (HIE).

外胚层发育不良是一组罕见的先天性疾病,主要累及外胚层来源的器官,如指甲、牙齿、头发和汗腺等,造成其结构及功能异常.EDA基因是少汗性外胚层发育不良(HED)的致病基因.HED患儿易发生高热,高热严重者可造成死亡.本文总结了1例EDA基因c.852T>A新发变异所致HED患儿的临床及基因突变情况,丰富了该病的基因突变谱,以增强临床对该罕见病的认识.

目的 分析宏基因二代测序(metagenomics next-generation sequencing,mNGS)技术在儿童发热血流感染中的诊断价值,并为临床合理调整治疗方案提供依据.方法 选择2019年1月-2020年3月在海口市人民医院儿科住院治疗的25例临床疑似血流感染的患儿,分别留取标本进行血培养和mNGS病原体检测.比较两种技术的病原体检出结果及阳性率.结果 25例患儿中,血培养检测平均报告时间为3.7 d,检出病原体阳性1例,阳性率为4.0％;mNGS病原检测平均检出报告时间2.3 d,检出病原体阳性13例,阳性率为52.0％,差异有统计学意义(P＜0.05).血培养检出病原体1种,mNGS检出病原体16种,mNGS检出的病原体种类和数量明显高于传统病原学检测.在mNGS检测出阳性的13例患儿中,单一病原体感染6例,多重病原体感染7例,经结合患儿人院前后诊疗情况,采信其中10例结果,维持或调整抗感染治疗方案;另外3例患儿检出不同种类的真菌,考虑与临床表现及相关检查不符,不予采纳检测结果,遂未加用抗真菌药物予以治疗.13名患儿经过积极综合治疗,均痊愈出院.结论 宏基因二代测序有助于协助部分发热儿童血流感染的病原学诊断.

目的 系统评价胎儿宫内生长受限(IUGR)与氧化应激的关系.方法 检索中文数据库(中国知网、万方数据库、中国维普数据库、中国生物医学文献数据库)、英文数据库(Pubmed、Embase)中2000年1月—2020年1月公开发表的文献,由2名研究者按照纳入、排除标准对文章进行筛选、剔除及质量评价,对纳入文献中能够合并的结局量用Stata 14.0软件进行Meta分析,不能合并的仅进行描述性分析.结果 共纳入16篇文献,包含1234例研究对象,分为病例组与对照组.病例组患儿及其孕母多个标本来源(胎盘、脐血浆、尿液、红细胞等)的不同氧化应激标志物水平、人8-异构前列腺素F2α、晚期氧化蛋白产物、血浆羟基蛋白、热休克蛋白等高于对照组(P均<0.05);病例组患儿及其孕母的抗氧化酶水平能够反映受氧化应激侵袭程度.结论 IUGR患儿及其孕母体内氧化应激水平升高,氧化应激会从脂质过氧化物蓄积、胎盘功能不全、微量元素失衡等方面参与IUGR的发生发展.

目的 探讨AMN基因复合杂合变异所致Imerslund-Gr?sbeck综合征(IGS)的临床和基因变异特征.方法 回顾分析1例AMN基因复合杂合变异所致IGS患儿临床资料,并复习相关文献.结果 患儿,男,10岁,主要表现为面色、口唇苍白;血红蛋白84 g/L,红细胞计数2.44×1012/L,红细胞平均体积96.30 fL,平均血红蛋白量34.4 pg;血维生素B 12浓度83 pg/mL.血串联质谱及尿有机酸分析提示甲基丙二酸血症.基因筛查排除原发性甲基丙二酸血症相关基因致病性变异;全外显子测序提示AMN基因存在c.527_530 del和c.651+1 G>C复合杂合变异,其中c.651+1 G>C为新发变异.上述变异位点未见报道,经ACMG评级,c.527_530 del为疑似致病性变异,c.651+1 G>C为致病性变异.结合临床表型,患儿确诊IGS.经维生素B 12肌注治疗后,患儿甲基丙二酸血症和贫血症状消失.结论 血串联质谱及尿有机酸分析联合基因检测尤其是全外显子测序可提高罕见遗传代谢病的诊断.

目的 探讨先天性全身脂肪营养不良症(CGL)的临床特征及基因变异特点.方法 回顾分析1对BSCL2基因变异致CGL双胎患儿的临床资料及其家系基因检测结果.结果 患儿均为男性,4月龄,均表现为全身脂肪组织消失,肝脾肿大,全身少量色素沉着.实验室检查示高三酰甘油血症.提取双胎中哥哥及父母的外周血,进行全外显子组基因测序并经Sanger测序验证,结果显示患儿存在BSCL2基因c.974dup(p.Ile326HisfsTer 12)纯合变异,为致病变异,确诊为CGL2.其父母均携带c.974dup杂合变异.检测其家系10人(三代)的BSCL2基因显示,双胞胎弟弟亦为BSCL2基因c.974dup纯合变异,诊断为CGL2;其祖母、外祖父、大伯、小舅以及同胞哥哥为该位点的携带者,符合常染色体隐性的遗传规律.结论 发现2例同卵双胎CGL2,国内尚未见报道.

病毒性脑炎是一种累及脑膜和脑实质的中枢神经系统感染性疾病,其临床表现为发热、抽搐、头痛等.因病毒性脑炎早期缺乏特异性临床症状,且病死率和致残率均较高,所以早期诊断尤为重要.本文介绍了3例采用宏基因组测序(mNGS)技术早期诊断出儿童疱疹病毒性脑炎的病例资料,相较于病毒性脑炎的传统检测方法,脑脊液二代测序能及早地做出病原学诊断,在早期诊断和指导临床治疗方面有重要的参考价值.

Genistein, a naturally occurring phytoestrogen and a member of the large class of compounds known as isoflavones, exerts protective effects in several diseases. Recent studies indicate that genistein plays a critical role in controlling body weight, obesity-associated insulin resistance, and metabolic disorders, but its target organs in reversing obesity and related pathological conditions remain unclear. In this study, we showed that mice supplemented with 0.2% genistein in a high-fat diet for 12 weeks showed enhanced metabolic homeostasis, including reduced obesity, improved glucose uptake and insulin sensitivity, and alleviated hepatic steatosis. We also observed a beiging phenomenon in the white adipose tissue and reversal of brown adipose tissue whitening in these mice. These changes led to enhanced resistance to cold stress. Altogether, our data suggest that the improved metabolic profile in mice treated with genistein is likely a result of enhanced adipose tissue function.