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Related Concept Videos

Cushing Syndrome I: Introduction01:26

Cushing Syndrome I: Introduction

Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...
Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
Cirrhosis I: Introduction01:23

Cirrhosis I: Introduction

Cirrhosis is a chronic, irreversible liver disease characterized by the widespread replacement of healthy liver tissue with fibrotic scar tissue and the formation of regenerative nodules.Etiology of cirrhosisCirrhosis results from sustained liver injury that triggers progressive fibrosis and structural remodeling. The underlying causes are diverse, encompassing common and less frequent clinical conditions. Regardless of the origin, all causes lead to chronic inflammation, hepatocyte loss, and...
Cohesins02:20

Cohesins

Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of homologous...
Gastritis-II: Pathophysiology01:17

Gastritis-II: Pathophysiology

Gastritis is marked by disruption of the mucosal barrier that usually protects the stomach tissue from digestive juices and manifests in acute and chronic forms.
In acute gastritis, the gastric mucosa becomes swollen and red and undergoes superficial erosion. Superficial ulceration may lead to bleeding.
In chronic gastritis, persistent or repeated insults lead to chronic inflammatory changes and, eventually, thinning or atrophy of the gastric tissue.
Gastritis can stem from various causes, each...
Gastritis II: Pathophysiology01:26

Gastritis II: Pathophysiology

The pathophysiology of gastritis begins with the colonization of the stomach lining by Helicobacter pylori (H. pylori). This bacterium spreads mainly via the oral-oral route through saliva or shared utensils, and can also be transmitted in overcrowded or unhygienic environments through contaminated water, despite its brief survival outside the body.ColonizationOnce ingested, H. pylori enters the stomach and begins colonization by navigating through the mucus layer lining the stomach wall. It...

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Related Experiment Videos

CINCA Syndrome.

Chetna Khemani1, Raju Khubchandani

  • 1Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Science, Lucknow 226 014, U.P., India.

Indian Pediatrics
|January 8, 2008
PubMed
Summary
This summary is machine-generated.

We describe a rare genetic disorder, CINCA syndrome, in a young Indian girl. This case highlights an unusual presentation with retinal vasculitis and a novel CIAS1 gene mutation, expanding knowledge of this autoinflammatory condition.

Related Experiment Videos

Area of Science:

  • Pediatric Rheumatology
  • Medical Genetics
  • Ophthalmology

Background:

  • CINCA syndrome (Chronic Infantile Neurological Cutaneous Articular syndrome) is a rare autoinflammatory disorder.
  • It typically presents with fever, rash, and joint/neurological issues from early life.

Purpose of the Study:

  • To report a unique case of CINCA syndrome in a 7-year-old Indian girl.
  • To document an unusual clinical presentation including retinal vasculitis and minimal neurological signs.
  • To identify the genetic basis of the condition in this patient.

Main Methods:

  • Clinical case presentation and detailed patient history.
  • Ophthalmological examination to assess for retinal vasculitis.
  • Genetic analysis to identify mutations in the CIAS1 gene.

Main Results:

  • The patient exhibited CINCA syndrome with infrequent retinal vasculitis and limited neurological involvement.
  • A de novo F309S mutation in exon 3 of the CIAS1 gene was identified.
  • This represents the first reported case of CINCA syndrome with this specific mutation from India.

Conclusions:

  • This case expands the known clinical spectrum of CINCA syndrome.
  • The identification of a novel CIAS1 mutation contributes to understanding the genetic heterogeneity of the disorder.
  • This report underscores the importance of considering CINCA syndrome in children with recurrent fevers and inflammatory signs, even with atypical manifestations.