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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...
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Obsessive-Compulsive Disorder01:28

Obsessive-Compulsive Disorder

Obsessive-compulsive disorder (OCD) is a mental health condition characterized by recurrent obsessions, compulsions, or both, which consume significant time and interfere with daily functioning. Obsessions involve persistent, intrusive, and unwanted thoughts, images, or urges that evoke anxiety. Common examples include irrational fears of contamination or harm. Compulsions are repetitive behaviors or mental acts performed to reduce the anxiety caused by obsessions. For instance, individuals...
Irritable Bowel Syndrome01:23

Irritable Bowel Syndrome

DefinitionIrritable bowel syndrome (IBS) is a functional gastrointestinal disorder characterized by recurrent combinations of abdominal pain, bloating, diarrhea, or constipation.Pathophysiology of irritable bowel syndromeIts pathophysiology is multifactorial, involving disturbances in motility, sensory processing, microbial balance, barrier integrity, and gut–brain communication. These mechanisms interact to produce symptoms that vary across IBS subtypes.Altered Motility PatternsDisordered...
Panic Disorder01:27

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Panic disorder is an anxiety disorder characterized by recurrent and sudden minutes-long episodes of intense fear, known as panic attacks. These attacks may feel like heart attacks and often happen without warning or a specific cause. They can include symptoms such as rapid heart rate, shortness of breath, chest pain, trembling, sweating, dizziness, and a sense of helplessness. During a panic attack, individuals may feel as though they are experiencing a heart attack or are in a...
Cushing Syndrome I: Introduction01:26

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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...

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Elevated Plus Maze for Mice
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[Kabuki syndrome].

Rikke Børthy Petersen1, Pernille Lindholm, Christian T Bonde

  • 1Rigshospitalet, Afdeling for Plastikkirurgi og Brandsårsbehandling, Denmark. Rikkebp55@hotmail.com

Ugeskrift for Laeger
|May 7, 2010
PubMed
Summary
This summary is machine-generated.

Kabuki syndrome, a rare genetic disorder, presents unique challenges. This case highlights key developmental delays and physical features in a young child, emphasizing the need for early recognition and intervention.

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Area of Science:

  • Genetics
  • Developmental Pediatrics
  • Clinical Case Studies

Background:

  • Kabuki syndrome is a rare genetic disorder characterized by distinctive facial features, developmental delays, and other physical abnormalities.
  • Early diagnosis and intervention are crucial for managing the complex needs of affected individuals.

Observation:

  • A 2-year-old boy with Kabuki syndrome presented at birth with cleft palate.
  • Unusual facial features and psychomotor developmental delays were noted from six months of age.

Findings:

  • The child exhibits significant growth retardation.
  • At two years old, he has no expressive language and minimal speech perception.

Implications:

  • This case underscores the phenotypic variability and progressive nature of Kabuki syndrome.
  • Highlights the importance of comprehensive developmental assessments and multidisciplinary care for children with rare genetic disorders.