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Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Staphylococcal Skin Infections01:29

Staphylococcal Skin Infections

Staphylococcus aureus is a Gram-positive coccus that resides harmlessly on the skin and mucous membranes of healthy individuals. When the skin barrier is breached, it can shift from a commensal to an opportunistic pathogen. This transition is facilitated by surface adhesins, such as clumping factor B and S. aureus surface protein G (SasG), which bind to structural proteins, including loricrin and cytokeratin, in the damaged epidermis. Protein A, another key factor, binds the Fc region of...
Conditioned Taste Aversion01:14

Conditioned Taste Aversion

Conditioned taste aversion, also known as sauce béarnaise syndrome, is a phenomenon in which an individual develops an aversion to a certain food taste following a negative experience, typically illness. This form of aversion is a type of classical conditioning in which the taste of the food (conditioned stimulus, CS) is associated with the experience of illness (unconditioned stimulus, UCS).
A notable characteristic of conditioned taste aversion is that it often requires only a single exposure...
Disorders of Hemostasis01:24

Disorders of Hemostasis

Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.

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Related Experiment Videos

The SAPHO syndrome.

Minhchau Thi Nguyen1, Andrea Borchers, Carlo Selmi

  • 1Division of Rheumatology, Allergy and Clinical Immunology, University of California, Davis, CA 95616, USA.

Seminars in Arthritis and Rheumatism
|November 17, 2012
PubMed
Summary

SAPHO syndrome, characterized by synovitis, acne, pustulosis, hyperostosis, and osteitis, presents diverse symptoms making diagnosis challenging. Early recognition and treatment of this rare condition can prevent complications and alleviate pain.

Related Experiment Videos

Area of Science:

  • Rheumatology
  • Dermatology
  • Genetics

Background:

  • SAPHO syndrome (Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis) is a rare autoinflammatory disorder.
  • It presents with a wide spectrum of musculoskeletal and cutaneous manifestations, often leading to diagnostic challenges.
  • The syndrome's multifactorial pathogenesis, potentially involving bacteria and immune dysfunction, remains incompletely understood.

Purpose of the Study:

  • To enhance awareness of SAPHO syndrome by reviewing its epidemiology, presentation, diagnosis, treatment, pathogenesis, and genetics.
  • To highlight the diagnostic difficulties associated with SAPHO syndrome's variable clinical presentation.
  • To underscore the importance of early recognition and prompt management.

Main Methods:

  • A comprehensive Medline search was performed using keywords such as "SAPHO syndrome" and "chronic recurrent multifocal osteitis/osteomyelitis."
  • Relevant articles were identified and further references were extracted from the retrieved literature.
  • The review synthesized information on the syndrome's multifaceted aspects.

Main Results:

  • SAPHO syndrome encompasses diverse osteoarticular disorders, often accompanied by dermatoses with neutrophilic pseudoabscesses, but can occur in isolation.
  • Diagnosis can be challenging due to the wide variability in manifestations, especially with atypical presentations or absent skin lesions.
  • Current treatments are empirical, including NSAIDs, corticosteroids, DMARDs, biologics, and bisphosphonates, with variable efficacy.

Conclusions:

  • Early recognition and prompt diagnosis of SAPHO syndrome are crucial.
  • Timely treatment can prevent unnecessary long-term antibiotic use or invasive procedures.
  • Effective management can rapidly alleviate pain in most affected patients.