相关实验视频

Updated: Jun 25, 2026

Author Spotlight: Unlocking the Mysteries of Oral Potential Malignancies
05:42

Author Spotlight: Unlocking the Mysteries of Oral Potential Malignancies

Published on: August 11, 2023

980

通过新生儿查诊断出粘多糖症的婴儿多种成像方式的系统分析

Chung-Lin Lee1,2,3,4,5, Szu-Wen Chang1, Hung-Hsiang Fang1,6

  • 1Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.

Diagnostics (Basel, Switzerland)
|May 1, 2025
PubMed
概括

新生儿查在症状出现之前就能检测到粘多糖症 (MPS) 异常. 综合成像和生化标志物相关性有助于早期诊断和监测这些罕见的遗传疾病.

关键词:
腹部超声波扫描 - - 腹部超声波扫描生物标志物 生物标志物心脏超声波扫描 - 心脏超声波扫描早期诊断 早期诊断 早期诊断基因型表型相关性相关性进行成像评估评估.lysosomal 储存疾病 lysosomal 储存疾病粘多糖糖症 粘多糖糖症新生儿查 新生儿查骨的X射线图 骨X射线图

更多相关视频

Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography02:42

Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography

Published on: January 17, 2025

180
Multimodal Study of Murine Cardiovascular Remodeling: Four-Dimensional Ultrasound and Mass Spectrometry Imaging09:43

Multimodal Study of Murine Cardiovascular Remodeling: Four-Dimensional Ultrasound and Mass Spectrometry Imaging

Published on: January 10, 2025

554

相关概念视频

Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Diabetes Mellitus: Type 2 and Gestational01:22

Diabetes Mellitus: Type 2 and Gestational

Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility, suggesting a...
Diabetes Mellitus: Introduction01:26

Diabetes Mellitus: Introduction

Diabetes mellitus consists of chronic metabolic disorders characterized by persistent hyperglycemia. This elevated blood glucose results from defects in insulin secretion, impaired insulin action, or both. Insulin, produced by pancreatic β-cells, is essential for maintaining glucose homeostasis by facilitating cellular glucose uptake for energy or storage. Disruptions in insulin production or function lead to glucose accumulation in the bloodstream, causing the clinical features and long-term...
Hyperglycemia01:29

Hyperglycemia

Hyperglycemia is an abnormally high blood glucose level. It is diagnosed by fasting glucose ≥126 mg/dL, 2-hour oral glucose tolerance test (or OGTT) ≥200 mg/dL, random glucose ≥200 mg/dL with symptoms, or HbA1c ≥6.5%. However, HbA1c results may be unreliable in certain conditions, such as anemia or hemoglobinopathies, and the diagnosis should be confirmed unless classic symptoms are present. Postprandial hyperglycemia is typically considered significant when glucose levels exceed 180 mg/dL two...