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

Bone Disorders01:29

Bone Disorders

4.8K
Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
4.8K
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

1.4K
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
1.4K
The Functions of the Skeletal System01:22

The Functions of the Skeletal System

5.3K
The most apparent functions of the skeletal system are support, protection, and movement. However, bone tissue also performs several other critical metabolic functions. For one, the bone matrix acts as a reservoir for a number of minerals important to the functioning of the body, especially calcium and phosphorus. These minerals, present in the bone tissue, can be released back into the bloodstream when required. Calcium ions, for example, are essential for muscle contractions and controlling...
5.3K
Fractures: Bone Repair01:27

Fractures: Bone Repair

4.2K
Treatment for a fracture is based on the type of break, the bone affected, and the patient's age.
Minor fractures with no bone displacement are treated by immobilizing the fractured bone using a cast or splint. However, in the case of fractures with displaced bones, the broken bones are repositioned before immobilization to ensure successful healing without deformation and loss of function. The realignment of fractured bone ends is performed through a process called reduction. If the...
4.2K
Disorders of Erythrocytes01:27

Disorders of Erythrocytes

1.7K
Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
1.7K
Disorders of Leukocytes01:27

Disorders of Leukocytes

1.5K
Leukocyte disorders can lead to either leukopenia, characterized by an abnormally low leukocyte count, or leukocytosis, marked by a very high leukocyte number.
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune...
1.5K

You might also read

Related Articles

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

Sort by
Same author

Ossification of the Posterior Longitudinal Ligament - Novel findings from Pandora's box of ENPP1 Deficiency.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research·2026
Same author

XLH Matters 2024 GCC Edition: Insights and Recommendations to Improve Outcomes for People Living With XLH in the Gulf Region.

Clinical medicine insights. Endocrinology and diabetes·2026
Same author

Diagnostic Performance of Somatostatin Receptor-directed PET/CT for Tumor-induced Osteomalacia.

Molecular imaging and biology·2026
Same author

Phase 3 study comparing the efficacy and safety of proposed biosimilar RGB-14-P with denosumab in postmenopausal women with osteoporosis: results from the transition (switch) phase.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2026
Same author

A Randomized Phase 1 Study Comparing the PK, PD, Safety, and Immunogenicity of Proposed Biosimilar RGB-14-X and Denosumab in Healthy Adult Males.

Clinical and translational science·2026
Same author

Exercise for fracture prevention - evidence and consensus-based practice guideline of the osteology umbrella association (DVO).

BMC endocrine disorders·2026

Related Experiment Video

Updated: Nov 11, 2025

Murine Hind Limb Long Bone Dissection and Bone Marrow Isolation
07:17

Murine Hind Limb Long Bone Dissection and Bone Marrow Isolation

Published on: April 14, 2016

86.0K

[Rare bone disorders and respective treatments].

Lothar Seefried1, Franz Jakob2

  • 1Orthopädisches Zentrum für Muskuloskeletale Forschung, Universität Würzburg, Brettreichstr. 11, 97074, Würzburg, Deutschland. l-seefried.klh@uni-wuerzburg.de.

Der Internist
|March 29, 2021
PubMed
Summary

Understanding rare skeletal dysplasias like Hypophosphatasia (HPP) and Osteogenesis Imperfecta (OI) through genetic research improves diagnosis and treatment. Advances in pathophysiology pave the way for targeted therapies for bone disorders.

Keywords:
Genetically determined bone disordersHypophosphatasiaOsteogenesis imperfectaSkeletal dysplasiasX‑linked Hypophosphatemia

More Related Videos

Treatment with Vancomycin Loaded Calcium Sulphate and Autogenous Bone in an Improved Rabbit Model of Bone Infection
09:09

Treatment with Vancomycin Loaded Calcium Sulphate and Autogenous Bone in an Improved Rabbit Model of Bone Infection

Published on: March 14, 2019

9.2K
A Novel in vivo Gene Transfer Technique and in vitro Cell Based Assays for the Study of Bone Loss in Musculoskeletal Disorders
11:47

A Novel in vivo Gene Transfer Technique and in vitro Cell Based Assays for the Study of Bone Loss in Musculoskeletal Disorders

Published on: June 8, 2014

11.9K

Related Experiment Videos

Last Updated: Nov 11, 2025

Murine Hind Limb Long Bone Dissection and Bone Marrow Isolation
07:17

Murine Hind Limb Long Bone Dissection and Bone Marrow Isolation

Published on: April 14, 2016

86.0K
Treatment with Vancomycin Loaded Calcium Sulphate and Autogenous Bone in an Improved Rabbit Model of Bone Infection
09:09

Treatment with Vancomycin Loaded Calcium Sulphate and Autogenous Bone in an Improved Rabbit Model of Bone Infection

Published on: March 14, 2019

9.2K
A Novel in vivo Gene Transfer Technique and in vitro Cell Based Assays for the Study of Bone Loss in Musculoskeletal Disorders
11:47

A Novel in vivo Gene Transfer Technique and in vitro Cell Based Assays for the Study of Bone Loss in Musculoskeletal Disorders

Published on: June 8, 2014

11.9K

Area of Science:

  • Genetics and Molecular Biology
  • Skeletal Biology
  • Rare Diseases

Background:

  • Rare skeletal dysplasias, such as Hypophosphatasia (HPP), X-linked Hypophosphatemia (XLH), and Osteogenesis Imperfecta (OI), present complex pathophysiological challenges.
  • Understanding the genetic underpinnings of these conditions is crucial for advancing differential diagnosis and therapeutic strategies.

Purpose of the Study:

  • To explore the evolving understanding of rare skeletal dysplasias based on genetic and pathophysiological insights.
  • To highlight how this knowledge facilitates the development of novel diagnostic and therapeutic approaches.

Main Methods:

  • Review of genetic research and pathophysiological studies on rare skeletal dysplasias.
  • Analysis of therapeutic developments, including enzyme replacement therapy and antibody-based treatments.
  • Examination of the nosological evolution and genetic discoveries in Osteogenesis Imperfecta.

Main Results:

  • Genetic elucidation has led to enzyme replacement therapy for severe HPP and anti-FGF-23 antibody treatment for XLH.
  • New insights into OI genetics reveal interconnections with osteoporosis, informing treatment strategies.
  • Similar progress is being made for other rare skeletal disorders like Achondroplasia and Fibrodysplasia ossificans progressive.

Conclusions:

  • Delineating the genetic basis and pathophysiology of rare skeletal dysplasias significantly enhances our understanding and clinical management.
  • This knowledge is pivotal for developing targeted therapies and improving patient outcomes for a spectrum of bone disorders.