Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Chronic Obstructive Pulmonary Disease-II: Pathophysiology01:20

Chronic Obstructive Pulmonary Disease-II: Pathophysiology

3.3K
Chronic Obstructive Pulmonary Disease (COPD) pathophysiology is intricate and multifaceted, involving a complex interplay of physiological processes. Understanding these mechanisms is crucial for effectively managing and treating COPD. Here is an in-depth look at the critical elements in the pathophysiology of COPD:
Chronic Inflammation
3.3K
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

265
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...
265
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

454
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,...
454
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

374
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...
374
Breathing01:05

Breathing

61.1K
The process of breathing, inhaling and exhaling, involves the coordinated movement of the chest wall, the lungs, and the muscles that move them. Two muscle groups with important roles in breathing are the diaphragm, located directly below the lungs, and the intercostal muscles, which lie between the ribs. When the diaphragm contracts, it moves downward, increasing the volume of the thoracic cavity and creating more room for the lungs to expand. When the intercostal muscles contract, the ribs...
61.1K
Acute Respiratory Failure-III01:30

Acute Respiratory Failure-III

415
Hypercapnic respiratory failure, also known as Type 2 or ventilatory respiratory failure, is a severe condition characterized by the body's inability to effectively remove carbon dioxide (CO2) from the bloodstream. It leads to an arterial CO2 pressure (PaCO2) exceeding 45 mmHg and a blood pH above 7.35. This situation indicates that the body's ventilatory demand, or the ventilation needed to maintain normal PaCO2 levels, surpasses its supply or the maximum gas flow achievable without...
415

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Togetherness in Couples Living With Chronic Obstructive Pulmonary Disease: An Interpretive Interview Study.

Journal of clinical nursing·2026
Same author

Collagen- and elastin-derived biomarkers and acute severe exacerbations in COPD: a sub study of the CORTICO-COP trial.

Scientific reports·2026
Same author

The International Thoracic Organ Transplant Registry of the International Society for Heart and Lung Transplantation: 2026 Annual Pediatric Heart Transplantation Report, Trends and Post-transplant Outcomes by Recipient Sex.

The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation·2026
Same author

International Society for Heart and Lung Transplantation Scientific Statement on pulmonary antibody-mediated rejection and proposed graft, antibody, and pathology (GAP) definition.

The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation·2026
Same author

The International Thoracic Organ Transplant Registry of the International Society for Heart and Lung Transplantation: 2026 Adult Heart Transplantation: A Contemporary Analysis of Trends and Outcomes by Recipient Sex.

The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation·2026
Same author

Interferon-gamma release assay screening before solid organ transplantation in a low-incidence country: a prospective single-center cohort study.

Scientific reports·2026

Related Experiment Video

Updated: Oct 25, 2025

Mouse Model of Oleic Acid-Induced Acute Respiratory Distress Syndrome
04:45

Mouse Model of Oleic Acid-Induced Acute Respiratory Distress Syndrome

Published on: June 2, 2022

2.5K

[Alpha-1-antitrypsin deficiency].

Jesper Dichmann de Vos, Ole Hillberg1, Michael Perch

  • 1ole.hilberg@rsyd.dk.

Ugeskrift for Laeger
|August 6, 2021
PubMed
Summary
This summary is machine-generated.

Alpha-1-antitrypsin deficiency (A1AD) is a rare genetic condition affecting adults, particularly smokers. Early diagnosis and interventions like smoking cessation and A1AT augmentation therapy improve outcomes.

More Related Videos

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.8K
A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

8.5K

Related Experiment Videos

Last Updated: Oct 25, 2025

Mouse Model of Oleic Acid-Induced Acute Respiratory Distress Syndrome
04:45

Mouse Model of Oleic Acid-Induced Acute Respiratory Distress Syndrome

Published on: June 2, 2022

2.5K
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.8K
A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

8.5K

Area of Science:

  • Pulmonology and Genetics

Background:

  • Alpha-1-antitrypsin deficiency (A1AD) is an inherited disorder impacting lung and liver health.
  • It significantly affects quality of life and longevity, especially in smokers.
  • Early diagnosis is critical for effective management and improved patient outcomes.

Purpose of the Study:

  • To review the clinical impact of A1AD in adults.
  • To highlight the importance of early diagnosis and referral criteria.
  • To outline current and emerging treatment options for A1AD.

Main Methods:

  • Literature review focusing on A1AD diagnosis, clinical presentation, and management.
  • Analysis of current treatment guidelines and recent therapeutic advancements.

Main Results:

  • A1AD presents significant risks, particularly for smokers, impacting pulmonary and hepatic health.
  • Key referral indicators include early-onset COPD/emphysema, family history of A1AD, or unexplained liver cirrhosis.
  • Standard care involves smoking cessation, pulmonary rehabilitation, and inhaled medications.

Conclusions:

  • Prompt identification of A1AD is essential for mitigating disease progression.
  • Smoking cessation remains the cornerstone of A1AD management.
  • Augmentation therapy with alpha-1-antitrypsin is a viable treatment option following its recent approval.