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SIM1基因变异致早发性肥胖1例及文献复习

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中华实用儿科临床杂志 2024年第4期39卷 303-306页

作者：王峤覃菲巩纯秀首都医科大学附属北京儿童医院内分泌遗传代谢科北京100045 首都医科大学儿科医学院北京100069

对2022年2月就诊于首都医科大学附属北京儿童医院的1例SIM1基因变异致肥胖的患儿临床资料进行回顾性分析。患儿,女,5岁4个月,临床主要表现为早发性肥胖,29月龄时已达同龄女童肥胖标准,伴重度阻塞性睡眠呼吸暂停综合征。患儿及其母亲存在... 详细信息

对2022年2月就诊于首都医科大学附属北京儿童医院的1例SIM1基因变异致肥胖的患儿临床资料进行回顾性分析。患儿,女,5岁4个月,临床主要表现为早发性肥胖,29月龄时已达同龄女童肥胖标准,伴重度阻塞性睡眠呼吸暂停综合征。患儿及其母亲存在SIM1基因杂合变异。文献复习全球范围不同家系的SIM1基因变异导致肥胖患者共42例,本病以早发性肥胖为主要特征,近1/3还伴有肥胖外临床表现,包括智力运动发育迟缓、认知行为问题、轻度外观畸形以及神经内分泌异常。目前共报道了58种SIM1基因变异与肥胖相关,大多集中于C-末端结构域。p.T46R及p.D707H等位基因频率达9.5%,考虑为热点变异。提示对于早发性肥胖患者,应注意完善SIM1基因分析。

关键词：儿童 SIM1基因单基因肥胖早发性肥胖阻塞性睡眠呼吸暂停综合征

布罗索尤单抗治疗儿童X连锁低磷性佝偻病4例效果分析

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中华儿科杂志 2024年第7期62卷 681-685页

作者：魏丽亚孙妍巩纯秀曹冰燕国家儿童医学中心、首都医科大学附属北京儿童医院内分泌遗传代谢科北京100045 山东第一医院大学附属省立医院儿科济南250021

目的评估X连锁低磷性佝偻病(XLH)患儿布罗索尤单抗治疗的有效性及安全性。方法回顾性病例总结。以2022年7月至2023年12月首都医科大学附属北京儿童医院和山东第一医院大学附属省立医院收治的4例布罗索尤单抗治疗的XLH患儿为研究对象,收... 详细信息

目的评估X连锁低磷性佝偻病(XLH)患儿布罗索尤单抗治疗的有效性及安全性。方法回顾性病例总结。以2022年7月至2023年12月首都医科大学附属北京儿童医院和山东第一医院大学附属省立医院收治的4例布罗索尤单抗治疗的XLH患儿为研究对象,收集其临床特征、生化指标、影像学资料、治疗及随访(每3个月随访1次,截至2023年12月)情况,分析患儿治疗后的临床转归及药物不良反应。结果4例患儿中男3例、女1例,治疗前年龄分别为6.7、2.9、2.1、2.3岁。其中3例曾使用磷酸盐合剂及活性维生素D治疗,但患儿的步态异常、双下肢弯曲改善不明显,活动性佝偻病影像学变化未修复。4例患儿布罗索尤单抗起始剂量为0.8 mg/kg,每2周皮下注射1次,治疗周期为0.8~1.3年。4例患儿治疗前的空腹血清磷和肾磷阈分别为0.72、0.95、0.81、0.66 mmol/L和0.67、0.85、0.87、0.61 mmol/L,末次随访时血清磷和肾磷阈均明显升高(分别为0.96、1.09、1.09、0.90 mmol/L,0.85、0.79、1.03、0.98 mmol/L),其中仅例2肾磷阈治疗3个月时达到了正常值(1.17 mmol/L),其余均未达到同年龄儿童的正常范围。经过治疗,全部患儿的碱性磷酸酶水平均逐渐下降(分别为461、240、423、237 U/L),例2、例4末次访视时降至正常。例4治疗9个月时甲状旁腺激素水平轻度升高(81.0 ng/L),其余3例未见异常。例1行6 min步行试验,步行距离从245 m提高至570 m。4例患儿步态异常、双下肢弯曲及佝偻病严重程度均得到改善,未见肾脏钙质沉积、局部皮肤注射反应、高磷血症、维生素D缺乏等药物不良反应。结论布罗索尤单抗治疗可改善XLH患儿临床症状,尚未见药物不良反应。

关键词：低磷血症性佝偻病 X连锁显性儿童治疗学布罗索尤单抗

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青少年起病的成人型糖尿病12型5例临床特点及随访

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中华儿科杂志 2024年第6期62卷 530-534页

作者：曹冰燕苗苗王冬梅孟曦巩纯秀国家儿童医院中心、首都医科大学附属北京儿童医院内分泌遗传代谢科北京100045 北京市门头沟区妇幼保健院儿科北京102308

目的了解青少年起病的成人型糖尿病(MODY)12型的临床特点、基因变异及治疗随访结局。方法回顾性病例研究。收集2016年1月至2023年12月于北京儿童医院住院及门诊就诊5例MODY12型患儿病例资料,基因检测结果均提示ABCC8基因变异,分析其临... 详细信息

目的了解青少年起病的成人型糖尿病(MODY)12型的临床特点、基因变异及治疗随访结局。方法回顾性病例研究。收集2016年1月至2023年12月于北京儿童医院住院及门诊就诊5例MODY12型患儿病例资料,基因检测结果均提示ABCC8基因变异,分析其临床特点,治疗随访情况和遗传学特点。结果5例MODY12型中男4例、女1例,年龄为13.4(5.5,14.6)岁。出生时巨大儿4例,小于胎龄儿1例。2例合并超重或者肥胖,3例有典型糖尿病症状,2例无意中发现血糖高。1例以糖尿病酮症酸中毒起病患儿新生儿期诊断先天性高胰岛素血症,二氮嗪治疗有效,伴智力发育落后。5例患儿家族中均有连续三代常染色体显性遗传的糖尿病史。起病时的空腹血糖7.5(6.5,10.0)mmol/L,糖化血红蛋白(HbA1c)为11.8%(7.5%,13.5%),空腹C肽1.2(1.1,2.2)μg/L,随访时间15(9,32)个月,1例生活方式干预,2例口服二甲双胍,1例胰岛素加磺脲类药物治疗,1例胰岛素治疗。随访时的空腹血糖6.1(5.1,7.0)mmol/L,HbA1c为5.9%(5.7%,7.1%),空腹C肽1.7(0.9,2.9)μg/L。1例并发糖尿病视网膜病变。5例患儿共发现4个ABCC8基因杂合错义变异,1个整码缺失,均来源于母亲。结论MODY12型患儿起病年龄从婴儿期至青春期,临床异质性强,从轻度血糖升高到酮症酸中毒起病,肥胖发生率高,以ABCC8基因错义变异为主。个体化地根据血糖情况制定治疗方案,血糖控制较好。

关键词：儿童糖尿病遗传性疾病基因检测预后

Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome

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Science China(Life Sciences) 2017年第7期60卷 692-699页

作者： Di Wu chunxiu gong Chang Su Department of Endocrinology Genetics and Metabolism Beijing Children's Hospital Capital Medical University National Center for Children's Health MOE Key Laboratory of Major Diseases in Children Beijing 100045 China

Silver-Russell Syndrome(SRS) is clinically heterogeneous disorder characterized by low birth weight, postnatal growth restriction, and variable dysmorphic features. Current evidence strongly implicates imprinted genes as an important etiology of SRS. Although almost half of the patients showed DNA hypomethylation at the H19/IGF2 imprinted domain, and approximately7%–10% of SRS patients have maternal uniparental disomy of chromosome 7(UPD(7) mat); the rest of the SRS patients shows unknown etiology. In this study, we investigate whether there are further DNA methylation defects in SRS patients. We measured DNA methylation in seven SRS patients and five controls at more than 485,000 CpG sites using DNA methylation microarrays. We analyzed methylation changes genome-wide and identified the differentially methylated regions(DMRs) using bisulfite sequencing and digital PCR. Our analysis identifies epimutations at the previously characterized domains of H19/IGF2,providing proof of principle that our methodology can detect the changes in DNA methylation at imprinted loci. In addition,our results showed a novel SRS associated imprinted gene OSBPL5 located on chromosome 11p14 with the probe cg25963939,which is hypomethylated in 4/7 patients(P=0.023, β=.0.243). We also report DMRs in other genes including TGFβ3, HSF1,GAP43, NOTCH4 and MYH14. These DMRs were found to be associated with SRS using GO pathway analysis. In this study,we identified the probe cg25963939, located at the 5′UTR of imprinted gene OSBPL5, as a novel DMR that is associated with SRS. This finding provides new insights into the mechanism of SRS etiology and aid the further stratification of SRS patients by molecular phenotypes.

关键词： Silver-Russell syndrome methylation differences imprinted gene

AR mutations in 28 patients with androgen insensitivity syndrome(Prader grade 0–3)

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Science China(Life Sciences) 2017年第7期60卷 700-706页

作者： Yi Wang chunxiu gong Xiou Wang Miao Qin Beo'ing Key Laboratory for Genetics of Birth Defects Center of Endocrinology Genetics and Metabolism Beo'ing Children's Hospital The Capital Medical University National center for children's health Beijing 100045 China

We investigated the androgen receptor(AR) gene mutation profiles of Chinese patients exhibiting severe androgen insensitivity syndrome(AIS) phenotypes. The present study enrolled 28 patients with genetically diagnosed AIS, who presented with severe phenotypes(Prader grade 0–3). Patients and some family members were screened via amplification and sequencing of their AR exons 1–8, including the corresponding intronic flanking regions. Luteinizing(LH), follicle-stimulating(FSH), and testosterone(T) hormone levels were found to be slightly, but not significantly, higher in patients with complete androgen insensitivity syndrome(CAIS) than in patients with partial androgen insensitivity syndrome(PAIS)(P>0.05). We identified 24 different AR mutations, including 12 that were novel. Ten patients(cases 2, 3, 10, 28, 11, 12, 19, 20, 24, and 25) were found to carry five recurrent mutations(p.Y572 S, p.P914 S, p.S176 R, p.Y782 N, and p.R841H); of these, p.Y572 S, p.S176 R, and p.Y782 N were novel. Among the mutations identified in patients with CAIS, six(66.7%) were characterized as single-nucleotide missense mutations, and six(66.7%) were found to be located in the AR ligand-binding domain(LBD). Among the mutations identified in patients with PAIS, 15(93.8%) were found to be missense, and 11(68.8%) were found to be located in the LBD. Patients 10 and 28 were determined to harbor the same missense mutation(p.P914S), but were diagnosed with CAIS and PAIS, *** hormone levels were slightly, but not significantly, elevated in patients with CAIS compared to those with PAIS. Missense mutations spanning AR exons 1–8 were the predominant form of identified mutations, and these were mostly located in the AR LBD. Approximately 50% of the identified mutations were novel, and have enriched the AR gene-mutation database. Patients harboring identical mutations were in some instances found to exhibit divergent phenotypes.

关键词： androgen insensitivity syndrome androgen receptor gene novel mutations genotype-phenotype correlation

十一酸睾酮对雄激素不敏感综合征患儿的治疗效果

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中华儿科杂志 2024年第8期62卷 758-763页

作者：刘莹李乐乐袁峥王馨萌王晓玲范丽君巩纯秀首都医科大学附属北京儿童医院药学部北京100045 首都医科大学附属北京儿童医院内分泌与遗传代谢中心北京100045

目的探讨雄激素不敏感综合征(AIS)患儿口服十一酸睾酮治疗的效果及安全性。方法采用自身前后对照研究设计。选取2009至2021年在北京儿童医院内分泌遗传代谢门诊基因确诊的51例AIS患儿为研究对象。采用口服十一酸睾酮治疗。主要观察指标... 详细信息

目的探讨雄激素不敏感综合征(AIS)患儿口服十一酸睾酮治疗的效果及安全性。方法采用自身前后对照研究设计。选取2009至2021年在北京儿童医院内分泌遗传代谢门诊基因确诊的51例AIS患儿为研究对象。采用口服十一酸睾酮治疗。主要观察指标为阴茎长度达到最低手术标准(≥2.5cm)或停药标准(≥-2.5s)。次要观察指标为阴茎长度标准差积分(PL-SDS)、阴茎长度增长(△PL)、用药剂量、疗程、安全性指标等。共4个疗程,每个疗程结束后评估患儿是否可以停药,阴茎长度增长欠佳患儿继续服药。采用配对样本t检验、Wilcoxon秩和检验进行比较,分析疗效和安全性。疗程结束后对患儿继续随访至2023年。结果51例AIS患儿中男33例、女18例(户口性别),其中10例诊断完全型AIS(CAIS),41例诊断部分型AIS(PAIS)。CAIS患儿阴茎长度治疗前后均“无法测量”(阴茎长度0.05)。2例CAIS患儿医生确诊并处方十一酸睾酮后,患儿并未真正服药。49例患儿口服十一酸睾酮患儿血电解质、肝肾功能和甲状腺功能等均未见异常,且无性早熟、阴毛增长、攻击行为、外阴皮肤发黑、腹泻等改变。结论CAIS患儿口服十一酸睾酮治疗无效。PAIS患儿阴茎长度、PL-SDS的改善效果在第一疗程就可体现;阴茎长度增长欠佳患儿继续治疗,在第二、三、四疗程也可逐渐提高。十一酸睾酮软胶丸口服对大部分PAIS患儿阴茎增长明显获益,且不良反应少,耐受性良好。

关键词：阴茎睾酮药物疗法雄激素不敏感综合征

Central precocious puberty as a prelude of gonad dysplasia

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Pediatric Investigation 2019年第1期3卷 50-54页

作者： Lele Li chunxiu gong Department of Endocrinology GeneticsMetabolism and Adolescent MedicineBeijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina

There is increasing evidence that patients with gonad dysplasia,as characterized by absent or incomplete puberty,can also exhibit central precocious puberty(CPP).Herein,we review the reported cases that manifest with both gonad dysplasia and ***,we examine the hypothesis that these patients exhibit a normal hypothalamic-pituitarygonadal axis,hypogonadism,and the presence of residual gonadal function,and that the onset of disease is related to early initiation of the hypothalamic-pituitary-gonadal ***,we suggest that CPP is a prelude of some partial hypogonadism.

关键词： Gonad dysplasia Central precocious puberty Turner syndrome Klinefelter syndrome

Exploring the efficacy of testosterone undecanoate in male children with 5α-reductase deficiency

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Pediatric Investigation 2021年第4期5卷 249-254页

作者： Ying Liu Lijun Fan Xiaoling Wang chunxiu gong Department of Pharmacy Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina Department of Endocrinology Genetics and MetabolismBeijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina

Importance:Children with 5-alpha-reductase deficiency(5α-RD)and hypospadias present with micropenis,which makes it difficult to obtain sufficient tissue for urethral ***:We investigated the therapeutic effects of oral testosterone undecanoate and established a standard androgen treatment protocol for patients with 5α-RD with ***:Patients with 5α-RD were treated with oral testosterone undecanoate for 3 months as a *** patients were treated with no more than 3 *** the penile length(PL)reached 2.5 cm(the minimum criterion for surgery)or greater than or equal to−2.5 standard deviations(SDs)(lower limit of normal),testosterone undecanoate was considered to be ***:The median age of 90 patients with 5α-RD was 1.7 years(0.9,3.1 years).The baseline PL was 1.9±0.6 cm before *** the end of the first course,the PL of 63 patients(70%)reached 2.5 cm,and 49 patients(54%)reached greater than or equal to−2.5 *** two treatment courses,the PL of 81 patients(90%)reached 2.5 cm,and 90 patients(100%)reached greater than or equal to−2.5 *** three courses,the PL of all patients reached 2.5 cm,and all patients reached a PL greater than or equal to−2.5 *** abnormal increase was observed in height-SD score,weight-SD score,or ratio of bone age to chronological age during the 1-3-year ***:After 3-9 months of treatment,PL increased to the target *** severe adverse reactions were observed during *** undecanoate was safe and effective in children with 5α-RD with micropenis.

关键词： 5α-reductase deficiency Micropenis Testosterone undecanoate Treatment Penile

Physical assessment and reference growth curves for children with 46,XY disorders of sex development

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Pediatric Investigation 2017年第1期1卷 13-19页

作者： Di Wu Hui Chen chunxiu gong Department of Endocrinology Genetics and MetabolismBeijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina

Importance:Impaired growth is an important factor in patients with disorders of sex development(DSD).Objective:To profile the growth of children with 46,XY ***:We compared heights between 46,XY DSD children and normal boys and obtained growth curves for DSD using the k-median coefficient of variation *** study subjects were categorized into groups with good response and poor response to the human chorionic gonadotrophin(HCG)test according to testosterone levels and were compared height standard deviation scores(HtSDS)with normal ***:A total of 571 children with noncongenital adrenal hyperplasia(CAH)46,XY DSD were enrolled in this *** overall HtSDS for the DSD subjects were0.031*** HtSDS of DSD boys were lower than those for normal boys among multiple age groups since early *** children aged≥12 years,the HtSDS values were significantly lower than the normal reference values for boys of the same age in both the good and poor response groups(P=.025 and P=.003,respectively).The HtSDS in the poor response group was generally lower than the normal reference value(P=.017).The average HtSDS values in the poor response groups were lower than those in the good response groups across multiple age ***:Growth retardation was evident in boys with non-CAH 46,XY DSD in early childhood and *** level of growth retardation was related to testosterone ***-specific growth curves can improve our understanding of growth dynamics and minimize the scope for bias in the assessment of growth in these children.

关键词： curve disorders of sex development growth testosterone