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相关概念视频

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

136
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
136
Diseases of the Liver and Gallbladder01:26

Diseases of the Liver and Gallbladder

334
Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
334
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

3.7K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.7K
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

94
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
94
Chronic Pancreatitis I: Introduction01:24

Chronic Pancreatitis I: Introduction

52
The pancreas, an elongated and flat gland situated behind the stomach, serves a vital function in digesting food and managing blood sugar levels.
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
52
Sex-linked Disorders01:43

Sex-linked Disorders

98.0K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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相关实验视频

Updated: May 9, 2025

Combining Double Fluorescence In Situ Hybridization with Immunolabelling for Detection of the Expression of Three Genes in Mouse Brain Sections
09:23

Combining Double Fluorescence In Situ Hybridization with Immunolabelling for Detection of the Expression of Three Genes in Mouse Brain Sections

Published on: March 26, 2016

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病例336:卡纳万病 病例336:卡纳万病

Grammatina Boitsios1, Alec Aeby1, Alina Mihaela Andrei1

  • 1From the Departments of Pediatric Imaging (G.B.) and Pediatric Neurology (A.A., A.M.A.), Hôpital Universitaire de Bruxelles, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels, Belgium.

Radiology
|April 29, 2025
PubMed
概括

这项研究详细介绍了一名10个月大的婴儿,患有渐进式大脑症和发育迟缓. 先进的大脑MRI被用来调查婴儿的神经状况.

科学领域:

  • 儿科神经学 儿科神经学
  • 神经发育障碍 神经发育障碍
  • 医疗成像医学成像

背景情况:

  • 一名10个月大的婴儿出现了渐进的巨头症,轴性低心症,发育迟缓和四肢硬.
  • 临床表现包括延迟的运动里程碑 (控制头部,坐着) 和缺乏喋喋不休.
  • 神经学检查表明视觉接触不良,性双特征,但没有吞困难或发作.

研究的目的:

  • 调查婴儿严重神经发育迟缓和巨头症的潜在原因.
  • 使用先进的神经成像技术进行诊断评估.

主要方法:

  • 一个10个月大的女婴接受了全面的神经学检查.
  • 大脑磁共振成像 (MRI) 使用3特斯拉扫描仪进行.
  • 获得了形态序列和光谱,有和没有加多对比.

主要成果:

  • 婴儿表现出显著的发育迟缓和渐进的巨头症.
  • 神经学发现表明有性双.
  • 脑电图监测没有显示出任何异常.

结论:

  • 先进的大脑MRI,包括光谱学,对于诊断复杂的儿科神经疾病至关重要.

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Residue-specific Incorporation of Noncanonical Amino Acids into Model Proteins Using an Escherichia coli Cell-free Transcription-translation System
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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  • 需要进一步调查以确定观察到的症状的特定病因.