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 Experiment Video

Updated: May 17, 2026

Phenotyping Mouse Pulmonary Function In Vivo with the Lung Diffusing Capacity
07:13

Phenotyping Mouse Pulmonary Function In Vivo with the Lung Diffusing Capacity

Published on: January 6, 2015

Genetic testing in diffuse parenchymal lung disease.

Paolo Spagnolo1, Fabrizio Luppi, Stefania Cerri

  • 1Department of Oncology, Center for Rare Lung Disease, Hematology, and Respiratory Diseases, University of Modena and Reggio Emilia, Via del Pozzo 71, Modena, 41124, Italy. paolo.spagnolo@unimore.it

Orphanet Journal of Rare Diseases
|October 19, 2012
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

Pulmonary Tuberculosis IV01:26

Pulmonary Tuberculosis IV

Tuberculosis, more commonly referred to as TB, is an infectious disease stemming from Mycobacterium tuberculosis. While it primarily impacts the lungs, TB can also affect other body areas. Given its severity and global impact, timely and accurate diagnosis is crucial for controlling its spread and improving patient outcomes.
Several diagnostic approaches are used to detect TB. The conventional method is the Tuberculin Skin Test (TST), also known as the Mantoux test. However, this method has...

You might also read

Related Articles

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

Sort by
Same author

A hypermetabolic pulmonary lesion in a patient with breast cancer.

Breathe (Sheffield, England)·2026
Same author

Beyond <i>Aspergillus fumigatus</i>: The Clinical Burden of <i>Aspergillus flavus</i> and <i>Aspergillus niger</i> in Chronic Pulmonary Diseases.

Pathogens (Basel, Switzerland)·2026
Same author

Tracheobronchial stenosis as a rare extraintestinal manifestation of ulcerativecolitis: a case series with different therapeutic approaches.

Frontiers in medicine·2026
Same author

Predictors of treatment initiation in nontuberculous mycobacterial pulmonary disease: a real-life retrospective analysis.

European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology·2026
Same author

Expert Perspectives: Defining and Managing Progressive Pulmonary Fibrosis in Systemic Sclerosis.

Arthritis & rheumatology (Hoboken, N.J.)·2026
Same author

Impact of climate, air pollution, and urbanization on chronic respiratory infections.

Expert review of respiratory medicine·2026
Same journal

Patient-driven surveys of mucopolysaccharidoses revealed patient-reported outcomes in the Japan MPS patient and family group.

Orphanet journal of rare diseases·2026
Same journal

Mapping the landscape of treatable inborn errors of metabolism: a systematic gene-level evaluation based on the ICIMD classification.

Orphanet journal of rare diseases·2026
Same journal

Cognitive function in adult NF1 patients without other cognitive disorders: a cross-sectional study.

Orphanet journal of rare diseases·2026
Same journal

Real-world insights into neurodevelopmental outcomes amongst people with congenital hyperinsulinism.

Orphanet journal of rare diseases·2026
Same journal

Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023.

Orphanet journal of rare diseases·2026
Same journal

A lifespan pooled analysis of 832 cases: characterizing the lifespan profile of clinical presentations and comorbidities in congenital pulmonary airway malformation.

Orphanet journal of rare diseases·2026
See all related articles

Genetic factors significantly influence diffuse parenchymal lung diseases (DPLD), particularly idiopathic pulmonary fibrosis (IPF) and sarcoidosis. Understanding gene-environment interactions is crucial for disease susceptibility and clinical outcomes.

Area of Science:

  • Pulmonary Medicine
  • Genetics
  • Immunology

Background:

  • Diffuse parenchymal lung diseases (DPLD) affect lung tissue, leading to impaired gas exchange.
  • Pathogenesis is poorly understood for many DPLD, especially progressive fibrotic types.
  • Genetic predisposition is evident in DPLD development.

Purpose of the Study:

  • Review genetic influences on DPLD, focusing on idiopathic pulmonary fibrosis (IPF) and sarcoidosis.
  • Explore gene-environment interactions in disease susceptibility and phenotype.
  • Discuss implications of genetic advances for patients and physicians.

Main Methods:

  • Literature review focusing on genetic studies of DPLD.
  • Analysis of evidence for genetic determination (familial clustering, inherited disorders, variable responses to exposure).

Related Experiment Videos

Last Updated: May 17, 2026

Phenotyping Mouse Pulmonary Function In Vivo with the Lung Diffusing Capacity
07:13

Phenotyping Mouse Pulmonary Function In Vivo with the Lung Diffusing Capacity

Published on: January 6, 2015

  • Synthesis of current knowledge on IPF and sarcoidosis genetics.

    • Main Results:

    • Strong genetic evidence supports familial clustering and inherited disorders in DPLD.
    • Idiopathic pulmonary fibrosis (IPF) and sarcoidosis show significant genetic predisposition.
    • Gene-environment interactions (e.g., smoking in IPF, infections in sarcoidosis) are critical but largely unknown.

    Conclusions:

    • Genetics plays a key role in DPLD susceptibility and progression.
    • Further research into gene-environment interactions is essential for understanding IPF and sarcoidosis.
    • Advances in genetics offer potential for improved patient management and physician guidance.