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

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

4.6K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.6K
Bone Disorders01:29

Bone Disorders

5.0K
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...
5.0K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

662
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...
662
Osteoclasts in Bone Remodeling01:31

Osteoclasts in Bone Remodeling

3.8K
Osteoclasts are cells responsible for bone resorption and remodeling. They originate from hematopoietic progenitor cells present in the bone marrow. Numerous progenitor cells fuse to form multinucleated cells, each with 10-20 nuclei. A single osteoclast has a diameter of 150 to 200 µM. These cells have ruffled borders that break down the underlying bone tissue and release minerals such as calcium into the blood in bone resorption. Osteoclasts cling to bones with their ruffled edges during...
3.8K

You might also read

Related Articles

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

Sort by
Same author

Lung nitroxidative stress in mechanically-ventilated septic patients: A pilot study.

Journal of critical care·2019
Same author

Evaluation of the potential of ultrasound technology combined with mild temperatures to reduce cadmium content of edible crab (Cancer pagurus).

Ultrasonics sonochemistry·2018
Same author

An assessment of the application of ultrasound in the processing of ready-to-eat whole brown crab (Cancer pagurus).

Ultrasonics sonochemistry·2017
Same author

Haploidentical hematopoietic stem cell transplantation in children with high-risk hematologic malignancies: outcomes with two different strategies for GvHD prevention. Ex vivo T-cell depletion and post-transplant cyclophosphamide: 10 years of experience at a single center.

Bone marrow transplantation·2016
Same author

Application of ultrasound in combination with heat and pressure for the inactivation of spore forming bacteria isolated from edible crab (Cancer pagurus).

International journal of food microbiology·2016
Same author

Osmotolerance provided by the alternative sigma factors σB and rpoS to Staphylococcus aureus and Escherichia coli is solute dependent and does not result in an increased growth fitness in NaCl containing media.

International journal of food microbiology·2015

Related Experiment Video

Updated: Jan 1, 2026

Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells
08:52

Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells

Published on: June 13, 2018

9.2K

Malignant Infantile osteopetrosis.

A Vomero1, A Tapie2, C Arroyo1

  • 1Facultad de Medicina, Universidad de la República, Uruguay.

Revista Chilena De Pediatria
|December 21, 2019
PubMed
Summary
This summary is machine-generated.

Malignant Infantile Osteopetrosis (MIOP) is a severe genetic disorder. Early diagnosis and hematopoietic stem cell transplant are crucial for this lethal condition.

More Related Videos

Establishment of Cancer Stem Cell Cultures from Human Conventional Osteosarcoma
09:25

Establishment of Cancer Stem Cell Cultures from Human Conventional Osteosarcoma

Published on: October 14, 2016

19.6K
Intratibial Osteosarcoma Cell Injection to Generate Orthotopic Osteosarcoma and Lung Metastasis Mouse Models
04:25

Intratibial Osteosarcoma Cell Injection to Generate Orthotopic Osteosarcoma and Lung Metastasis Mouse Models

Published on: October 28, 2021

11.0K

Related Experiment Videos

Last Updated: Jan 1, 2026

Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells
08:52

Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells

Published on: June 13, 2018

9.2K
Establishment of Cancer Stem Cell Cultures from Human Conventional Osteosarcoma
09:25

Establishment of Cancer Stem Cell Cultures from Human Conventional Osteosarcoma

Published on: October 14, 2016

19.6K
Intratibial Osteosarcoma Cell Injection to Generate Orthotopic Osteosarcoma and Lung Metastasis Mouse Models
04:25

Intratibial Osteosarcoma Cell Injection to Generate Orthotopic Osteosarcoma and Lung Metastasis Mouse Models

Published on: October 28, 2021

11.0K

Area of Science:

  • Genetics
  • Pediatrics
  • Hematology

Background:

  • Malignant Infantile Osteopetrosis (MIOP) is a rare, severe genetic disorder characterized by abnormal osteoclast function.
  • It presents in infancy with significant morbidity and mortality.

Observation:

  • A 10-month-old male infant diagnosed with MIOP presented with thrombocytopenia and visceromegaly.
  • Clinical features included severe hepatosplenomegaly, anemia, visual and hearing impairment, and recurrent infections.
  • Genetic analysis confirmed heterozygous mutations in the TCIRG1 gene.

Findings:

  • Hematopoietic stem cell transplantation was performed but did not result in hematological recovery.
  • The patient's condition was complicated by occlusive venous disease, leading to mortality.

Implications:

  • MIOP necessitates a high index of suspicion in infants with hepatosplenomegaly and bone marrow failure.
  • Early diagnosis and timely hematopoietic stem cell transplantation offer the only potentially curative options for this lethal disease.