118例矮小儿童病因分析

随着我国人民优生优育意识的增强，每位家长都希望自己的孩子既及长得聪明漂亮，同时还希望其身高能达到理想的高度，因此近年来因身材矮小而来我院儿科就诊的儿童逐渐增多。身材矮小仅是一个症状，可以由许多病因造成。现将我院儿科内分泌及遗传病门诊自1987年12月～1992年5月诊断的矮小儿童中资料较完整的118例分析如下。     

矮小症患儿甲状腺激素检测结果分析

目的探讨矮小症患者中甲状腺激素的变化情况。方法应用电化学发光法对447例矮小症患者进行甲状腺激素TT3,TT4,TSH,FT3,FT4检测。结果在447例患者中有甲状腺功能减低为9例,占2.01%,甲状腺功能亢进的1例,占0.22%。结论甲状腺激素降低在矮小症患者中占一定比例,应引起医生和家长的重视。     

矮小症患儿生长激素激发试验与治疗反应的相关性

目的分析生长激素缺乏症(GHD)和特发性矮小症(ISS)患者生长激素激发试验结果,及其与重组人生长激素(rhGH)治疗反应之间的关系。方法回顾性分析36例GHD和24例ISS左旋多巴和胰岛素低血糖生长激素激发试验结果,rhGH治疗后身高增长情况,进行相关性分析。结果 GHD组两种激发试验峰值、曲线下面积(area under curve, AUC)与身高标准差比值(SDS)呈正相关(P0.001),校正性别、年龄、骨龄、体质量SDS后,左旋多巴激发试验峰值及AUC与身高SDS仍呈正相关(r=0.471和0.427,P0.05);ISS组并无此相关性。两组治疗前身高SDS无差异,治疗第2年GHD组身高SDS显著高于ISS组(P0.05)。两组治疗后GV均明显增加,但治疗第2年GV较第1年有所下降。GHD组治疗第1年GV与治疗前两种激发试验峰值、AUC呈负相关,而ISS组并无相关性。结论 rhGH可显著改善GHD和ISS患儿身高,但随着治疗的延长GV有下降趋势;治疗前GH激发试验可一定程度预测GHD患儿rhGH治疗效果,但不能预测ISS患儿rhGH治疗效果。     

儿童矮小症血液电解质及微量元素与体格发育

本文分析了矮小症儿童的生长发育与血液电解质及微量元素间的关系,阐述了儿童矮小症类型、血液电解质微量元素间的关系、锌、钙、镁等不同血液电解质与体格发育的关系,并且提出缺乏微量元素的预防方案,以期为临床治疗提供参考。     

以矮小症为例看罕见疾病诊断思维教学的特点

建立正确的临床思维是提升临床能力的核心和根本,是医学教育的重点和难点.与常见病不同,罕见疾病的临床思维有其独特的特点.本文以矮小症为例,从资料搜集、逻辑推理、循证教学、多科讨论、分子生物学研究和人工智能等方面总结了罕见病诊断思维的特点,有利于提高医师的工作效率,并为针对罕见病的临床思维训练提供经验.     

矮小症学龄儿童血液中钙、镁、铁、锌水平与体格发育的相关性分析

目的 分析矮小症学龄儿童血液内血钙(Ca)、镁(Mg)、铁(Fe)、锌(Zn)水平与体格发育的相关性.方法 选择2016年1月至2017年8月来医院儿保门诊就诊的50例矮小症学龄儿童作为观察组,选择同期来我院体检的50例正常儿童作为对照组,均采集静脉血测定血清Ca、Mg、Fe、Zn水平,并进行体格检查,测定身高、胸围、体重,采用世界卫生组织推荐的美国国家卫生统计中心(NCHS)制定的相关标准评价其体格发育情况,分析矮小症儿童血清钙、镁、铁、锌等矿物质水平与其体格发育的相关性.结果 观察组身高、胸围、体重及血清Ca、Fe、Zn水平均低于对照组,比较差异有统计学意义(P＜0.05);观察组低钙、低铁、低锌检出率均高于对照组,比较差异有统计学意义(P＜0.05);矮小症学龄儿童血清Ca水平与身高、体重、胸围呈正相关,Fe与身高呈正相关,Zn与身高、体重、胸围均呈正相关(P＜0.05).结论 矮小症学龄儿童血清Ca、Fe、Zn水平低于正常健康儿童,且缺钙、缺铁、缺锌均影响儿童体格发育.     

不同剂量重组人生长激素治疗小儿特发性矮小症的临床对比研究

目的:对比研究不同剂量重组人生长激素(recombinant human growth hormone,rhGH)治疗小儿特发性矮小症(Idiopathic short stature,ISS)的临床价值.方法:收集本院2017年4月至2020年4月收治的116例ISS患儿的临床资料.根据不同剂量rhGH将116例患儿分为A组(rhGH剂量0.1 U?(kg?d)-1)与B组(rhGH剂量为0.2 U?(kg?d)-1).比较两组身高、体重变化情况,并计算生长速度(Growth velocity,GV)、骨龄、血清胰岛素样生长因子-1(Insulin-like growth factor-1,IGF-1)、胰岛素样生长因子结合蛋白-3(Insulin like growth factor binding protein-3,IGFBP-3)、骨钙素(Osteocalcin,OC)、血清25羟维生素D[25(OH)D]、血清游离三碘甲腺原氨酸(Free triiodothyronine,FT3)、促甲状腺激素(Thyroid stimulating hormone,TSH)、游离甲状腺素(Free thyroxine,FT4)及不良反应发生情况.结果:治疗后,两组患儿身高、体重及IGF-1、IGFBP-3、OC、25(OH)D、FT3、FT4水平均较治疗前增高,TSH水平较治疗前下降,B组增高/降低程度明显优于A组;且B组治疗后GV、骨龄均明显高于A组(P<0.05).两组不良反应发生率无差异.结论:高剂量rhGH治疗ISS患儿效果更显著,更有助于促进患儿生长,改善患儿骨代谢,且安全可靠.     

跟痛症病因的研究进展

跟痛症是一种临床上常见多发疾病,中老年患者多见。其病因及发病机制比较复杂,一直以来争议较多。通过总结临床工作和国内外文献对跟痛症病因及其发病机制加以阐述。     

特发性矮小症儿童血清GH、IGF-1、微量元素与体格发育指标的相关性分析

目的调查分析特发矮小症(ISS)儿童血清中生长激素(GH)、胰岛素生长因子-1(IGF-1)水平及钙镁锌等微量元素状况。方法选取2014年2月至2018年2月我院收治的矮小症儿童230例为研究对象(其中138例ISS患儿纳入ISS组,余下92例非ISS矮小症儿童纳入非ISS组),另选择同期体检的健康儿童50例为对照组,采用精氨酸激发试验及可乐定激发试验检测其血清GH水平,并分析三组IGF-1、微量元素(钙镁锌、维生素D)水平、体格发育指标[身高、体重、体质量指数(BMI)、瘦素(Leptin)、骨钙素(Ost)],分析ISS儿童GH、IGF-1水平与微量元素水平、体格发育指标的相关性。结果ISS组可乐定、精氨酸激发试验阳性率高于非ISS组(P<0.05);ISS组、非ISS组血清GH、IGF-1、钙、镁、锌及维生素D水平低于对照组,ISS组血清GH、IGF-1、钙及维生素D水平低于非ISS组(P<0.05);ISS组、非ISS组的身高、体重、BMI及血清Ost水平低于对照组,而Leptin水平高于对照组,ISS组的身高、体重及血清Leptin、Ost水平也低于非ISS组(P<0.05);Spearman相关性分析发现,ISS儿童血清GH、IGF-1水平与血清钙、锌、维生素D、BMI、Ost呈正相关,与Leptin呈负相关(P<0.05),而矮小症儿童血清GH、IGF-1水平与血清钙、镁、维生素D、BMI呈正相关,与Leptin呈负相关(P<0.05)。结论ISS儿童血清GH、IGF-1水平普遍偏低,且其钙镁锌等微量元素明显不足,可通过GH/IGF-1轴、微量元素对其进行诊断,并合理补充微量元素。     

Clonidine-stimulated growth hormone concentrations (cut-off values) measured by immunochemiluminescent assay (ICMA) in children and adolescents with short stature

OBJECTIVES:

To establish cut-off values for growth hormone concentrations using clonidine as a secretagogue and an immunochemiluminescent assay as the method of measurement and to analyze the response time as well as the influence of gender, nutritional status and pubertal stage.

METHODS:

A total of 225 tests were performed in 3 patient groups, categorized as group 1 (normal), group 2 (idiopathic short stature) and group 3 (growth hormone deficiency). Among the 199 disease-free individuals, 138 were prepubertal, and 61 were pubertal. Clonidine (0.1 mg/m²) was orally administered, and the growth hormone level was measured by immunochemiluminescent assay. The growth hormone peak and the difference between the growth hormone peak and the baseline level were then analyzed. Statistical analyses were performed using Student''s t-test or the Mann-Whitney test and Kruskal-Wallis test followed by Dunn''s post hoc test. Cut-off values were determined using a receiver operating characteristic curve.

RESULTS:

Group 1 and group 2 had no difference in growth hormone peak, gender, body mass index standard deviation score, or pubertal stage. Group 3 exhibited a significantly lower growth hormone peak than the other groups did. The receiver operating characteristic curve demonstrated that growth hormone concentrations ≥ 3.0 ng/mL defined responsiveness to clonidine. In total, 3.02% of individuals in group 1 and group 2 were considered false positive, i.e., these children lacked growth hormone deficiency and had a peak below 3.0 ng/mL.

CONCLUSION:

Clonidine-stimulated growth hormone concentrations ≥3 ng/mL, as measured by immunochemiluminescent assay, suggest responsiveness to the stimulus regardless of gender, body mass index standard deviation score or pubertal stage.     

219例应用重组人生长激素的矮小儿童随访调查

目的 随访哈尔滨地区应用重组人生长激素（rhGH）治疗的矮小儿童219例,探讨其应用rhGH时的年龄分布、应用时间、及副作用情况.方法 对已应用rhGH的219例不同原因矮小儿童,其中男147例（67.1%）,女72例（32.9%）,采用统一的调查表,通过查阅病案获取资料,进行随访.随访内容包括：开始应用rhGH时的年龄、应用时间及副作用情况.结果 不同原因矮小儿童开始用药年龄多在12岁以后,占70.3%;用药时间多在6个月以内,占全部患儿的67.1%,最长者是GHD和Turner综合征患儿,用药时间超过3年;rhGH副作用小.结论 哈尔滨地区应用rhGH的矮小儿童中,应用rhGH的起始年龄均偏大,影响疗效;由于依从性及经济原因,应用rhGH时间均较短;在规定剂量内,适应症者可以大胆使用.对矮小患儿应明确病因,给予尽早治疗.     

The genetics of Parkinson disease

About 15% of patients with Parkinson disease (PD) have family history and 5–10% have a monogenic form of the disease with Mendelian inheritance. To date, at least 23 loci and 19 disease-causing genes for parkinsonism have been found, but many more genetic risk loci and variants for sporadic PD phenotype have been identified in various association studies. Investigating the mutated protein products has uncovered potential pathogenic pathways that provide insights into mechanisms of neurodegeneration in familial and sporadic PD. To commemorate the 200th anniversary of Parkinson’s publication of An Essay on the Shaking Palsy, we provide a comprehensive and critical overview of the current clinical, neuropathological, and genetic understanding of genetic forms of PD. We also discuss advances in screening for genetic PD-related risk factors and how they impact genetic counseling and contribute to the development of potential disease-modifying therapies.     

The genetic pathogenesis,diagnosis and therapeutic insight of rheumatoid arthritis

Rheumatoid arthritis (RA) is a systemic autoimmune disease that causes chronic inflammation of the joints. RA is a heterogeneous disorder caused by an abnormal autoimmune response triggered by the complex interactions of genetic and environmental factors that contribute to RA etiology. However, its underlying pathogenic mechanisms are yet to be fully understood. In this review, I provide an overview of the pathogenesis, diagnosis and therapeutic insight in the clinical management of RA in light of the recent updates to classification criteria and recent discoveries of genetic loci associated with susceptibility for RA.     

Association of Polymorphisms in the Vitamin D Receptor Promoter with Idiopathic Short Stature

The genetic alterations of vitamin D receptor (VDR) are related with the growth of long bone. There were a lot of reports regarding an association of polymorphisms in the VDR promoter with many disorders, but not with idiopathic short stature (ISS). We investigated the association of them with ISS. A total of 50 subjects, including 29 ISS patients and 21 healthy controls with their heights within the normal range was recruited. We selected two single nucleotide polymorphisms (SNPs) from VDR promoter (rs11568820 at the Cdx-2 binding site upstream of exon 1e and rs4516035 at -1012 upstream of exon 1a) as candidates, respectively. In genotype analysis, the frequency of A/A genotype at the Cdx-2 binding site locus (rs11568820) upstream of exon 1e of VDR was decreased to 6.9% in ISS patients (28.6% in controls) (P = 0.027). The genetic variation at the Cdx-2 binding site of VDR promoter can be a contributing factor of growth of height.     

广西马山壮族中小学生身高发育趋势

目的　研究广西壮族中小学生身高发育状况及其趋势。方法　对广西马山县 7～ 16岁中小学生男性 982人 ,女性 86 5人体质发育调查数据中的身高、躯干长资料进行计算机统计分析 ,绘制了对应的身高和躯干长的发育曲线。与其它地区的调查分析结果进行比较 ,对身高发育的趋势进行了分析。结论　广西壮族学生身高发育与全国和经济发达地区都有一定的差距 ,营养状况相对较差可能是重要影响因素之一。 16岁后女性身高发育趋势放缓较男性明显     

Allelic variations of the D2 dopamine receptor gene in children with idiopathic short stature

The D2 dopamine receptor (DRD2) plays a major role in growth hormone (GH) secretion. Recent reports indicate that Taq I A DRD2 gene alleles (A1 and A2) are related to the function of DRD2. Idiopathic short stature (ISS) is defined as short stature without accompanying malnutrition, chronic disease, and endocrinological disorders. However, some reports suggest that ISS is associated with a mild disturbance of GH secretion. In this study, we examined the notion that allelic variants of the DRD2 are associated with ISS. We studied 55 children with ISS aged 8.4 (SD 2.9) years; (group I) and 104 age-matched children of normal stature (group II). Informed consent was obtained from each child's parent or guardian. Genomic DNAs were extracted from peripheral mononuclear cells and amplified by polymerase chain reaction (PCR). The PCR products were digested by Taq1 and resolved by electrophoresis. The frequency of the A1 allele was significantly higher in group I (0.42) than in group II (0.26). The insulin-like growth factor (IGF)-I ratio (the ratio of the individual level to the normal mean value according to age at our laboratory center) was significantly lower in group I than in group II. When group I was subdivided into group A (with the A1 allele) and group B (with only the A2 allele), group A had a significantly lower peak GH response to the l-dopa test, lower levels of IGF-I, and retarded bone maturation. These findings indicate that polymorphism of the DRD2 gene may be one genetic factor that affects body height in childhood, acting through the hypothalamus (GH-releasing hormone) — pituitary (GH) — IGF-I axis. Received: July 13, 1998 / Accepted: September 9, 1998     

The influence of motor unit composition and stature on fractionated patellar reflex times in untrained men

Summary The purpose of the present study was to investigate the influence of muscle fibre composition and stature on fractionated patellar reflex times in ten healthy untrained men (mean age: 23.3 years, SD 3.1; mass: 65.9 kg, SD 8.5; height: 172.3 cm, SD 5.3). Biopsies were taken from the right vastus lateralis muscle. Using staining for myofibrillar adenosine triphosphatase after pre-incubation at pH 4.3 and 4.6, muscle fibres were classified into slow twitch (ST), fast twitch, oxidative-glycolytic (FTa) and fast twitch, glycolytic (FT_b) fibres. Total patellar reflex time (TRT) and its fractionated components - reflex latency (LAT) and reflex motor time (MT) - were obtained from the mean of ten trials in each subject whilst performing Jendrassik's maneuvre. The TRT, LAT and MT were 77.7 ms, SD 16.5, 23.4 ms, SD 1.3 and 54.2 ms, SD 16.3, respectively. The LAT was significantly correlated to the percentage number of ST (r=0.758,P<0.05) and FT_a fibres (r=–0.657,P<0.05), fast twitch: slow twitch ratio (r=–0.799,P<0.01) and to the height of the subjects (r=0.901,P<0.001), whereas TRT and MT were not significantly correlated with either fibre types or the height of the subjects. From these results it can be concluded that the LAT during the patellar reflex is influenced by muscle fibre composition and the length of the sensory and/or motor nerve.     

中日学生足长,足围与身高关系的比较研究

目的 研究中日学生足长、足围与身高关系的差异性。方法 采用国际采用的人体测量学方法,调查了大连７－１７岁１２０９名汉族学生和东京７－１２岁２７２名学生的身主 长和足围,并着重研讨了足长、足围与高的关系。结果 足长、足围与身高之间存在正相关关系。（１）由足长推算身高的回归方程大连男性为Ｙ＝６．８３６ｘ－２．８３,女性为Ｙ７．６１１ｘ＝１５．２８０;东京男性为Ｙ－５．８５２ｘ＝１２．１３２,女性为Ｙ＝     

中国更新世古人类身高演化趋势

目的 探讨中国更新世古人类身高演变趋势。 方法 采用间接法复原中国更新世化石人类身高，先重建残缺长骨标本的最大长，然后依据长骨长度复原个体身高。 结果 中国直立人（4例）和早期现代人（12例）的身高变异范围分别是155.4～169.2 cm和155.2～171.7 cm，而早期智人仅有1例女性个体身高约166.1 cm。位于西南地区的柳江和丽江的古人类身高明显低于北方早期现代人。 结论 从直立人至早期现代人阶段，中国古人类身高变异范围相仿，而平均身高可能呈逐渐增长趋势；早期现代人展现出较明显的地域性差异；早期现代人与新石器时期现代人群身高间差异并未表现出显著性。