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Related Concept Videos

Pneumothorax-I01:26

Pneumothorax-I

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A pneumothorax is a condition where air builds up in the space between the lung and the chest wall, causing the lung to collapse. This condition arises when air enters the space between the parietal and visceral pleura, disrupting the negative pressure essential for lung inflation. This can lead to a partial or complete collapse of the lung.
Pneumothorax can be even further classified as spontaneous, traumatic, and tension pneumothorax.
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Pneumothorax-II01:27

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Pneumothorax is a medical condition defined by the buildup of air in the pleural space between the lungs and the chest wall. This accumulation of air can lead to partial or complete lung collapse, resulting in a range of clinical manifestations. Understanding the clinical presentation and effective management strategies is crucial for healthcare professionals in providing timely and appropriate care to individuals with pneumothorax.
Clinical Manifestations:
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Flail Chest-I01:24

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Overview of Flail Chest
Flail chest is a severe and potentially life-threatening condition characterized by the fracture of three or more adjacent ribs in multiple places. It is most commonly caused by direct impacts and trauma, such as motor vehicle accidents or injuries from a steering wheel impact. It can also occur due to falls in elderly individuals with osteoporosis, or assaults involving sharp objects.
Pathophysiology
The pathophysiology of flail chest is complex, involving fractures of...
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Related Experiment Video

Updated: Jul 5, 2025

Transuterine Fetal Tracheal Occlusion Model in Mice
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PKD1L1 Is Involved in Congenital Chylothorax.

Jonathan B Whitchurch1, Sophia Schneider2,3, Alina C Hilger4

  • 1Mammalian Genetics Unit, MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.

Cells
|January 22, 2024
PubMed
Summary
This summary is machine-generated.

Genetic variants in PKD1L1 are linked to congenital chylothorax (CCT), a cause of fetal hydrops. This study identifies new PKD1L1 variants in CCT cases, suggesting its role in lymphatic anomalies.

Keywords:
PKD1L1chylothoraxcongenitalpleural effusion

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Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Genetics

Background:

  • Congenital chylothorax (CCT) is a primary cause of fetal hydrops.
  • Previous research implicated ultrarare compound heterozygous variants in PKD1L1 in fetal hydrops.
  • Pkd1l1 null mouse embryos exhibit visceral heterotaxia, edema, and perinatal lethality.

Purpose of the Study:

  • To investigate the role of PKD1L1 variants in congenital chylothorax (CCT).
  • To identify genetic variants in PKD1L1 associated with CCT in human cases.
  • To analyze the functional impact of identified PKD1L1 variants on protein localization and function.

Main Methods:

  • Exome sequencing of case-parent trios with CCT.
  • Identification and characterization of compound heterozygous variants in PKD1L1.
  • In vitro analysis of variant impact on PKD1L1 protein localization.
  • Phenotypic analysis of Pkd1l1 mutant mouse embryos, including edema and lymphatic vessel morphology assessment.

Main Results:

  • Ultrarare compound heterozygous variants in PKD1L1 were identified in two of five CCT case-parent trios.
  • Identified variants include missense and loss-of-function (LoF) mutations, affecting protein localization and function.
  • Pkd1l1 mutant mouse embryos showed generalized edema and altered lymphatic vessel development.

Conclusions:

  • PKD1L1 variants are implicated in the pathogenesis of congenital chylothorax.
  • The study highlights PKD1L1's crucial role in lymphatic development and function.
  • These findings suggest PKD1L1 as a potential genetic factor in congenital lymphatic anomalies.