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Related Concept Videos

Bone Disorders01:29

Bone Disorders

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...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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...
Changes in the Appendicular Skeleton with Age01:09

Changes in the Appendicular Skeleton with Age

The upper and lower limb initially develops as a small bulge called a limb bud, which appears on the lateral side of the early embryo. The upper limb bud appears near the end of the fourth week of development, with the lower limb bud appearing shortly after.
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

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...
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...

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Related Experiment Video

Updated: Jun 25, 2026

Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts
07:56

Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts

Published on: January 29, 2018

[Delayed psychomotor development caused by malignant infantile osteopetrosis].

Malene S Heidemann1, Anders J Schou, Maria Kibaek

  • 1Paediatrisk Afdeling H, Odense Universitetshospital, DK-5000 Odense C. msheidemann@dadlnet.dk

Ugeskrift for Laeger
|February 13, 2009
PubMed
Summary

Malignant infantile osteopetrosis (MIOP) is a rare genetic bone disease. Successful bone marrow transplant (BMT) in an infant patient led to improved psychomotor development, offering a potential curative treatment.

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Culture of Murine Embryonic Metatarsals: A Physiological Model of Endochondral Ossification

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Area of Science:

  • Pediatric Hematology
  • Genetics and Rare Diseases
  • Pediatric Neurology

Background:

  • Malignant infantile osteopetrosis (MIOP) is a severe inherited disorder impacting bone resorption due to osteoclast dysfunction.
  • Early symptoms include recurrent infections, failure to thrive, and vision impairment, progressing to neurological deficits and fatality if untreated.

Observation:

  • A male infant presented with MIOP symptoms at three weeks of age, with diagnosis confirmed at 11 months.
  • The patient exhibited delayed psychomotor development consistent with the disease's neurological impact.

Findings:

  • The patient underwent a successful bone marrow transplant (BMT) as a potentially curative intervention.
  • Post-BMT, significant improvement in the patient's delayed psychomotor development was observed.

Implications:

  • Bone marrow transplant (BMT) represents a critical, potentially curative treatment for Malignant Infantile Osteopetrosis.
  • Early diagnosis and intervention, including BMT, can significantly improve neurodevelopmental outcomes in MIOP patients.