沃尔夫 - 希尔施霍恩综合征的延长生长曲线 (4p-)
Amy R U L Calhoun1, Amanda Lortz2, T Charles Casper3
1Stead Family Department of Pediatrics, University of Iowa Health Care, Iowa, USA.
American journal of medical genetics. Part A
|March 29, 2025
概括
沃尔夫 - 希尔斯霍恩综合征 (WHS) 的生长图表显示,个体比典型的小. 意想不到的是,青春期的增长冲刺几乎没有,许多典型的增长范围重叠.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 内分泌学 在内分泌学.
背景情况:
- 狼 - 希尔斯霍恩综合征 (WHS) 是一种罕见的遗传疾病,由染色体4p上的缺失引起.
- WHS的特点是产前生长限制,发育延迟和独特的面部特征.
- 现有的WHS增长图表缺乏全面的数据,特别是在青春期.
研究的目的:
- 为患有沃尔夫 - 希尔斯霍恩综合征的人建立详细的生长图表.
- 提供最新的长度/身高,体重和腰前额周长数据,从出生到成年.
- 分析生长模式,包括青春期发育和最终成年人身高.
主要方法:
- 收集了来自65名WHS患者的人类测量数据 (身长/身高,体重,面周长).
- 生成长度/身高 (出生至18岁) 和体重 (出生至18岁) 的生长曲线.
- 从出生到2岁时发展出腰前额周长曲线.
主要成果:
- 在所有参数中,WHS的个体通常比一般人群小.
- 在WHS队列中观察到几乎不存在的青春期生长突发.
- 个体数量高于预期,属于典型的生长范围,尽管整体体型较小.
结论:
- 新的生长图表为监测WHS患者的生长提供了宝贵的数据.
- 结果突出了独特的生长模式,包括减少青春期加速和最终成年人身高的考虑.
- 综合征特异性生长图表对于WHS中准确的临床评估至关重要.
更多相关视频
相关概念视频
Population Growth
23.2K
Population size is dynamic, increasing with birth rates and immigration, and decreasing with death rates and emigration. In ideal conditions with unlimited resources, populations can increase exponentially, which plots as a J-shaped growth rate curve of population size against time. This type of curve is characteristic of newly-introduced invasive species, or populations that have suffered catastrophic declines and are rebounding.
23.2K
Hardy-Weinberg Principle
62.5K
Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.
62.5K
¹H NMR: Long-Range Coupling
2.4K
The coupling interactions of nuclei across four or more bonds are usually weak, with J values less than 1 Hz. While these are usually not observed in spectra, the presence of multiple bonds along the coupling pathway can result in observable long-range coupling.
In alkenes, spin information is communicated via σ–π overlap, as seen in allylic (four-bond) and homoallylic (five-bond) couplings. These coupling interactions are stronger when the σ bond is parallel to the alkene...
In alkenes, spin information is communicated via σ–π overlap, as seen in allylic (four-bond) and homoallylic (five-bond) couplings. These coupling interactions are stronger when the σ bond is parallel to the alkene...
2.4K
UV–Vis Spectroscopy: Woodward–Fieser Rules
30.7K
UV–Visible absorption spectra of conjugated dienes arise from the lowest energy π → π* transitions. The light-absorbing part of the molecule is called the chromophore, and the substituents directly attached to the chromophore are called auxochromes. A strong correlation exists between the absorption maxima, λmax, and the structure of a conjugated π system. The Woodward–Fieser rules predict the value of λmax for a...
30.7K
Stress-Strain Diagram
6.9K
A stress-strain diagram is a crucial tool that graphically displays a material's mechanical characteristics. This diagram is derived from a tensile test performed on a carefully prepared cylindrical specimen. The specimen has two gauge marks inscribed on its central part, and the distance between these marks is known as the gauge length. The cylindrical specimen is placed in a testing machine, which applies an increasing centric load. As this load grows, so does the gauge length. This...
6.9K
Exponential Equations for Modeling Growth
459
Exponential models are essential for describing rapid, multiplicative changes in natural systems, such as population growth. When a population doubles at regular intervals, the process can be modeled using a suitable base. For instance, a bacterial culture that doubles every three hours follows the model n(t)=n0⋅2t/3, where n(t) is the population at the time t.A more general model uses the natural base e, especially for continuous growth. This takes the form n(t)=n0⋅ert, where r is...
459


