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: Emphysema01:23

Chronic Obstructive Pulmonary Disease II: Emphysema

Emphysema, a major phenotype of chronic obstructive pulmonary disease (COPD), is characterized by irreversible destruction of alveolar walls and permanent enlargement of distal airspaces. Unlike chronic bronchitis, which primarily affects the airways, emphysema predominantly involves the lung parenchyma, where structural damage leads to airflow limitation.PathophysiologyIt most commonly results from prolonged exposure to cigarette smoke and other toxic gases, particularly cigarette smoke.
Coronary Artery Disease III: Clinical Manifestations01:30

Coronary Artery Disease III: Clinical Manifestations

Coronary Artery Disease (CAD) is a primary health risk worldwide, leading to significant morbidity and mortality. The condition arises from the buildup of atherosclerotic plaques within the coronary arteries, resulting in diminished blood supply to the heart muscle.The clinical manifestations of CAD vary widely, from asymptomatic stages to severe, life-threatening conditions. Understanding these manifestations is crucial for early diagnosis and effective management.Angina Pectoris: The Warning...
Atherosclerosis I: Introduction01:30

Atherosclerosis I: Introduction

Atherosclerosis is a progressive disorder characterized by the buildup of plaques on the arterial inner wall, causing them to narrow and harden over time. These plaques comprise lipids, calcium, blood components, carbohydrates, and fibrous tissue. The process primarily affects the intima of large and medium-sized arteries, reducing blood flow in any artery.Etiology and risk factorsThe cause of atherosclerosis is multifactorial, involving a complex interplay among endothelial injury, lipid...
Peripheral Artery Disease I: Introduction01:30

Peripheral Artery Disease I: Introduction

Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
Coronary Artery Disease II: Pathophysiology01:26

Coronary Artery Disease II: Pathophysiology

Coronary Artery Disease (CAD) originates from a series of events that impair the function of coronary arteries, the blood vessels responsible for delivering oxygen-rich blood to the heart muscle. The pathophysiology of CAD is closely linked to atherosclerosis, a chronic inflammatory and lipid-driven condition affecting the vascular endothelium.1. Endothelial DamageThe process begins with damage to the vascular endothelium, which serves as a protective barrier between the blood and the vessel...
Cardiovascular System Abnormal Findings I: Inspection and Palpation01:29

Cardiovascular System Abnormal Findings I: Inspection and Palpation

In a cardiovascular examination, inspection and palpation are crucial for identifying abnormalities.
Abnormal findings observed during an inspection

You might also read

Related Articles

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

Sort by
Same author

Variable topography of black oesophagus (acute necrotising oesophagitis).

Medicine, science, and the law·2025
Same author

Acute drug toxicity as a risk factor for lethal deep venous thrombosis.

Medicine, science, and the law·2025
Same author

Lethal gastrointestinal manifestations of COVID-19 infection at autopsy.

Medicine, science, and the law·2025
Same author

Forensic considerations in nonthrombotic pulmonary embolism: A case report and review.

Medicine, science, and the law·2025
Same author

Fatal exulceratio simplex (dieulafoy lesion) - a case report and review.

Forensic science, medicine, and pathology·2024
Same author

Lethal septic pulmonary thromboembolism in a repatriated body - a rare complication of prolonged urinary catheterization.

Medicine, science, and the law·2024

Related Experiment Video

Updated: Jun 5, 2026

Granulocyte-dependent Autoantibody-induced Skin Blistering
12:23

Granulocyte-dependent Autoantibody-induced Skin Blistering

Published on: October 12, 2012

Pseudoxanthoma elasticum and sudden death.

Marais Combrinck1, John D Gilbert, Roger W Byard

  • 1SA Pathology, Frome Rd, Adelaide 5000, SA, Australia.

Journal of Forensic Sciences
|January 8, 2011
PubMed
Summary

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder causing elastic fiber calcification. This condition can lead to serious health issues and may be identified during forensic autopsies.

Area of Science:

  • Genetics
  • Pathology
  • Dermatology

Background:

  • Pseudoxanthoma elasticum (PXE) is a generalized connective tissue disorder characterized by calcification of elastic fibers.
  • Key features include skin papules, angioid streaks in the eyes, and arterial calcification.
  • PXE exhibits autosomal recessive inheritance, linked to mutations in the ABCC6 gene.

Purpose of the Study:

  • To describe the clinical and genetic characteristics of Pseudoxanthoma elasticum.
  • To highlight the potential forensic implications of PXE, particularly in cases of sudden death.
  • To emphasize the importance of family counseling and screening for PXE.

Main Methods:

  • Review of clinical features and genetic basis of PXE.
  • Analysis of autopsy findings in individuals with PXE.

More Related Videos

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
06:23

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence

Published on: January 17, 2025

Related Experiment Videos

Last Updated: Jun 5, 2026

Granulocyte-dependent Autoantibody-induced Skin Blistering
12:23

Granulocyte-dependent Autoantibody-induced Skin Blistering

Published on: October 12, 2012

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
06:23

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence

Published on: January 17, 2025

  • Genetic mapping to 16p13.1 and identification of over 300 loss-of-function mutations in ABCC6.

    • Main Results:

    • PXE affects arteries, eyes, and skin, with prevalence ranging from 1/70,000 to 1/160,000.
    • Individuals with PXE are at risk for sudden death due to accelerated atherosclerosis, hypertension, and hemorrhage.
    • Over 300 loss-of-function mutations in the ABCC6 gene have been identified.

    Conclusions:

    • PXE is a significant genetic disorder with systemic manifestations.
    • Forensic evaluation may reveal PXE as a cause of premature death.
    • Genetic counseling and screening are crucial for families affected by PXE.