Related Experiment Videos
Chronic recurrent multifocal osteomyelitis: a concise review and genetic update
Hatem I El-Shanti1, Polly J Ferguson
1Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA. hatem-el-shanti@uiowa.edu
Clinical Orthopaedics and Related Research
|May 15, 2007
Summary
Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory bone disorder diagnosed clinically. Research is investigating genetic factors and aiming for targeted therapies due to current treatment limitations.
Area of Science:
- Immunology
- Genetics
- Orthopedics
Background:
- Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory bone disease.
- Diagnosis relies on clinical criteria due to unknown etiology.
- Current empiric treatments are not consistently effective.
Purpose of the Study:
- To review the current understanding of CRMO.
- To highlight the need for validated diagnostic criteria.
- To emphasize the development of targeted therapies based on pathogenesis.
Main Methods:
- Review of clinical and genetic findings in CRMO.
- Analysis of diagnostic imaging (radiographs, nuclear scans).
- Histopathological examination of bone biopsies.
Main Results:
- CRMO presents with bone pain, fever, and inflammatory lesions.
- Radiographs show osteolytic lesions with sclerosis; nuclear scans detect asymptomatic lesions.
- Histology reveals nonspecific inflammatory changes.
Conclusions:
- Genetic factors, including LPIN2 and PSTPIP2 mutations, are implicated in CRMO.
- Further research is needed to validate diagnostic criteria and develop targeted treatments.
- Understanding the genetic basis is crucial for advancing CRMO therapy.
Related Concept Videos
01:27Cryptococcal Meningitis
Cryptococcal meningitis is a life-threatening opportunistic infection predominantly associated with HIV/AIDS, accounting for over 100,000 deaths annually worldwide. However, it also affects individuals with other forms of immunosuppression, including those undergoing immunosuppressive therapy, organ transplant recipients, patients with innate immunodeficiencies, and individuals with hematological disorders. The infection is caused mainly by Cryptococcus neoformans and Cryptococcus gattii,...
01:26Bacterial Meningitis II: Pathophysiology
Bacterial meningitis typically begins when pathogens such as Neisseria meningitidis and Streptococcus pneumoniae colonize the nasopharynx and invade the bloodstream. This process is facilitated by bacterial virulence factors, such as polysaccharide capsules, which resist phagocytosis and complement-mediated killing. Less commonly, bacteria reach the central nervous system via contiguous spread from infections like otitis media or sinusitis, through congenital or acquired dural defects, or...
01:28Acute Pyelonephritis II: Diagnostic Studies and Management
Introduction:For diagnosing acute pyelonephritis, a comprehensive patient history is collected to identify symptoms such as dysuria, frequent or urgent urination, flank pain, or costovertebral angle (CVA) tenderness that may suggest a kidney infection.Physical ExaminationDuring the physical examination, CVA tenderness is assessed. This involves gentle percussion over the costovertebral angle, where tenderness often indicates a kidney infection.Diagnostic TestsUrinalysis: Used to identify white...
01:22Bacterial Meningitis I: Introduction
Bacterial meningitis is a severe, life-threatening inflammation of the meninges, particularly the pia mater and arachnoid mater, affecting the subarachnoid space, ventricles, and cerebrospinal fluid (CSF). If untreated, it can lead to significant neurological complications or death.Causative AgentsCommon pathogens vary with age and immune status. In adults, major organisms include Streptococcus pneumoniae, Neisseria meningitidis, and Haemophilus influenzae. Streptococcus agalactiae (group B...
01:23Cystic Fibrosis: Pathogenesis
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
01:28Infectious Diseases and Their Occurrence
Infectious diseases appear in populations through various transmission patterns, influenced by pathogen characteristics, population immunity, environmental conditions, and social behavior. Understanding these patterns is essential for effective public health surveillance and intervention. These categories—sporadic, outbreak, epidemic, pandemic, and endemic—help frame the nature and scope of disease events.Sporadic diseases occur irregularly and infrequently, without a predictable temporal or...