相关实验视频
Updated: Jun 25, 2025

09:36
Assessment of Child Anthropometry in a Large Epidemiologic Study
Published on: February 2, 2017
27.1K
患有单一性和综合性遗传肥胖症的成人的临床表型
Mila S Welling1,2,3, Mostafa Mohseni1,2, Renate E H Meeusen1,2
1Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Obesity (Silver Spring, Md.)
|May 29, 2024
概括
成年遗传肥胖症呈现出不同的表型,与常见肥胖症有很大不同. 目前关于基因测试的儿科指导方针显示成年人敏感性较低,强调需要针对成年人的具体建议.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 肥胖医学 肥胖医学
背景情况:
- 关于诊断成年人遗传肥胖的证据有限.
- 了解成人遗传肥胖现象型对于准确的诊断和管理至关重要.
- 现有的基因测试指南主要针对儿科患者.
研究的目的:
- 评估遗传肥胖成年人的不同临床表型.
- 评估内分泌学会 (ES) 对成人肥胖的儿科遗传测试建议的适用性.
- 为成年肥胖护理制定特定的基因测试指南提供信息.
主要方法:
- 一项涉及79名遗传肥胖 (32名单一肥胖[MO],47名肥胖综合征[SO]) 和186名普通肥胖 (CO) 的成年人的比较研究.
- 分析的临床特征包括肥胖发病的年龄,食欲,以及智力缺陷和自闭症谱系障碍的患病率.
- 该研究评估了不同肥胖群体中ES儿科建议的满足程度.
主要成果:
- 虽然BMI在各组中相似,但肥胖发病的年龄在MO (3岁) 和SO (9岁) 与CO (21岁) 相比显著更早.
- 在MO (65.6%) 和SO (68.1%) 和CO (33.9%) 的成年人中,更频繁地报告了食欲增加.
- 智力缺陷和自闭症谱系障碍在SO (53.2%和21.3%) 比在MO或CO中明显更为普遍.
- 仅在56.3%的MO和29.8%的SO病例中,ES儿科建议得到了满足,这突显了成年人的适用性较差.
结论:
- 显而易见的临床表型是成年人遗传肥胖的特征,早期发病和食欲增加是关键特征.
- 针对儿科的ES建议表明,在识别成年人遗传肥胖时,敏感度较低.
- 显然需要制定和实施专门针对成人肥胖护理的基因测试指南.
相关概念视频
Obesity
456
The Body Mass Index (BMI) is a numerical value derived from a person's weight and height, used to categorize individuals into weight ranges. It is calculated using the formula: weight in kilograms divided by height in meters squared. Obesity is a health condition characterized by excessive accumulation of adipose tissue that poses health risks, often diagnosed with a BMI ≥ 30. This excess fat storage occurs when surplus dietary calories are converted into triglycerides and stored in...
456
Inborn Errors of Metabolism
155
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
155
Polygenic Traits
65.7K
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
65.7K
Diabetes: Symptoms, Diagnosis, and Complications
524
For most patients, experiencing several weeks of polyuria, polydipsia, fatigue, and significant weight loss may indicate the presence of diabetes. Furthermore, adults displaying the phenotypic appearance of type 2 diabetes (particularly those who are obese and not initially insulin-requiring), may have islet cell autoantibodies, suggesting autoimmune-mediated β cell destruction and a diagnosis of latent autoimmune diabetes of adults (LADA). The categorization of glucose homeostasis is...
524
Pedigree Analysis
84.2K
Overview
84.2K
Genomic Imprinting and Inheritance
34.3K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.3K

