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Related Concept Videos

Alterations in Respiration II01:30

Alterations in Respiration II

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There are numerous types of normal and abnormal respiration. Based on ventilatory movements, breathing patterns are classified as regular, deep, or shallow. Examples include Biot's breathing, Cheyne-Stokes respiration, Kussmaul's breathing, hyperventilation, and hypoventilation. Each pattern is clinically significant and aids in evaluating patients.
In Biot's breathing, the respiratory rate and depth are irregular, alternating between periods of deep gasping and apnea. Common causes...
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Sleep Apnea01:21

Sleep Apnea

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Sleep apnea is a condition where breathing stops intermittently during sleep, often leading to significant health issues. Each episode can last from 10 to 20 seconds or more and is frequently accompanied by a brief arousal from sleep. This disturbance, largely unnoticed by the individual, can lead to severe daytime fatigue. Commonly, individuals seek help after being informed by their partners about loud snoring and noticeable breathing pauses during sleep.
The condition is more prevalent among...
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Hyperpnea and Hyperventilation01:25

Hyperpnea and Hyperventilation

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Hyperventilation refers to a higher-than-normal rate and depth of breathing, often associated with anxiety attacks. This excessive breathing surpasses the body's need to expel CO2, leading to a condition known as hypocapnia - an unusually low level of carbon dioxide in the blood. Hypocapnia can constrict cerebral blood vessels, reducing blood flow to the brain, which may result in dizziness or fainting. Early signs include tingling and muscle spasms in the hands and face, caused by falling...
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REM Sleep Behavior Disorder01:15

REM Sleep Behavior Disorder

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REM Sleep Behavior Disorder (RBD) is a sleep disorder characterized by the absence of muscle paralysis that normally occurs during the REM phase of sleep. This absence allows individuals to physically act out their dreams, which are often vivid and disturbing. Common behaviors exhibited during episodes include kicking, punching, and yelling. These actions can be dangerous, potentially leading to injuries for the person with RBD or their bed partner.
RBD is significantly associated with...
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Other Pulmonary Disorders01:17

Other Pulmonary Disorders

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Respiratory disorders encompass a range of conditions with varying levels of severity. Asthma, marked by chronic airway inflammation and hypersensitivity, is one such condition. It can lead to airway obstruction due to factors like bronchial spasms, mucosal edema, increased mucus secretion, or epithelial damage. Asthma triggers are diverse, ranging from allergens to emotional upset, and treatment focuses on both immediate relief through bronchodilators and long-term inflammation suppression.
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Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies01:27

Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies

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Assessing and diagnosing Chronic Obstructive Pulmonary Disease (COPD) involves a detailed approach that includes a comprehensive review of medical history, physical examination, and a variety of diagnostic tests. This thorough evaluation is essential to ensure an accurate diagnosis and guide effective management strategies.
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Related Experiment Video

Updated: Feb 28, 2026

Drug-Induced Sleep Endoscopy DISE with Target Controlled Infusion TCI and Bispectral Analysis in Obstructive Sleep Apnea
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Drug-Induced Sleep Endoscopy DISE with Target Controlled Infusion TCI and Bispectral Analysis in Obstructive Sleep Apnea

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Sleep-Disordered Breathing in Chung-Jansen Syndrome.

Katerina Vlami1, Konstantina Kosma2, Lamprini Athanasopoulou1

  • 12nd Pulmonary Medicine Department, Medical School, General University Hospital "Attikon", National and Kapodistrian University of Athens, Rimini 1 Str., 12462 Haidari, Greece.

International Journal of Molecular Sciences
|February 27, 2026
PubMed
Summary
This summary is machine-generated.

Chung-Jansen Syndrome, a rare neurodevelopmental disorder, can cause severe obstructive sleep apnea (OSA). This case confirms OSA via polysomnography in an adult, highlighting the need for genetic testing and OSA screening in affected individuals.

Area of Science:

  • Genetics
  • Neurology
  • Sleep Medicine

Background:

Keywords:
genetic obesityobstructive sleep apneapleckstrin homology domain interacting protein

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  • Chung-Jansen Syndrome (CJS) is a rare neurodevelopmental disorder associated with intellectual disability, behavioral issues, dysmorphism, and obesity.
  • Sleep disturbances are frequently reported in CJS, but systematic evaluation of sleep-disordered breathing is limited.
  • The pleckstrin homology domain interacting protein (PHIP) gene is implicated in CJS, affecting pathways related to satiety and body weight.