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Related Concept Videos

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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Common Respiratory Disorders01:31

Common Respiratory Disorders

846
Respiratory disorders, a prevalent health concern globally, are generally divided into two primary categories: upper and lower respiratory tract disorders. The categorization is based on the area of the respiratory system they affect.
Upper respiratory disorders impact the airways above the vocal cords, encompassing areas like the nose, sinuses, and throat. Various conditions fall under this category, including the common cold and allergic rhinitis. These disorders can stem from several causes,...
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Breathing01:05

Breathing

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The process of breathing, inhaling and exhaling, involves the coordinated movement of the chest wall, the lungs, and the muscles that move them. Two muscle groups with important roles in breathing are the diaphragm, located directly below the lungs, and the intercostal muscles, which lie between the ribs. When the diaphragm contracts, it moves downward, increasing the volume of the thoracic cavity and creating more room for the lungs to expand. When the intercostal muscles contract, the ribs...
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Pulmonary Cycle: Exhalation01:17

Pulmonary Cycle: Exhalation

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In terms of human respiration, the act of expelling air, known as exhalation (or expiration), operates on the principle of pressure gradients. During expiration, the pressure within the lungs exceeds that of the surrounding atmosphere. Under normal conditions, quiet breathing involves passive exhalation and is free of muscular contractions. This is because the exhalation process is driven by the natural elastic recoil of the lungs and chest wall, both of which have an inherent tendency to...
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Respiratory System Abnormal Finding I: Inspection and Percussion01:30

Respiratory System Abnormal Finding I: Inspection and Percussion

416
Respiratory system abnormalities are a significant concern in healthcare due to their potential to indicate underlying severe conditions like Chronic Obstructive Pulmonary Disease (COPD), asthma, and pneumonia. These abnormalities can often be detected through physical examination methods like inspection and percussion.
Inspection Findings
During an inspection, several findings may suggest the presence of respiratory distress or disease. Pursed-lip breathing, where exhalation is slowed by...
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Physical Assessment of the Respiratory Tract II: Inspection01:27

Physical Assessment of the Respiratory Tract II: Inspection

393
Physical assessment of the respiratory tract through inspection is a crucial step in understanding the patient's respiratory health. It provides insights into the functioning of the respiratory system, the musculoskeletal structure, and even the patient's nutritional status. This comprehensive approach involves observing several vital aspects: chest configuration, breathing patterns, respiratory rates, skin color, and use of accessory muscles.
Chest Configuration
The chest configuration...
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Updated: Aug 30, 2025

Conducting Respiratory Oscillometry in an Outpatient Setting
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Developmental disorders affecting the respiratory system: CCHS and ROHHAD.

Isabella Ceccherini1, Kyle C Kurek2, Debra E Weese-Mayer3

  • 1Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy.

Handbook of Clinical Neurology
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Summary

Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) and Congenital Central Hypoventilation Syndrome (CCHS) are distinct disorders. While CCHS has a known genetic cause, ROHHAD

Keywords:
Autonomic nervous system dysregulation (ANSD)Congenital central hypoventilation syndrome (CCHS)Control of breathingHirschsprung diseaseLater-onset CCHS (LO-CCHS)Neural crest tumor (neuroblastoma, ganglioneuroma, ganglioneuroblastoma)NeurocristopathyRapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD)Ventilator dependence

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Area of Science:

  • Pediatric Neurology
  • Rare Diseases
  • Genetics

Background:

  • Congenital Central Hypoventilation Syndrome (CCHS) and Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) are rare disorders with overlapping symptoms.
  • Historically considered part of the same spectrum, recent genetic discoveries for CCHS and an unknown etiology for ROHHAD highlight their distinct nature.

Purpose of the Study:

  • To differentiate between CCHS and ROHHAD.
  • To provide insights into ROHHAD pathogenesis and improve clinical management.

Main Methods:

  • Comparative analysis of CCHS and ROHHAD.
  • Review of genetic, clinical, and pathophysiological data.

Main Results:

  • CCHS is an autosomal dominant neurocristopathy caused by PHOX2B variants, typically presenting at birth with hypoventilation and autonomic dysregulation.
  • ROHHAD presents in childhood (1.5-7 years) with rapid obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation; its cause remains elusive despite extensive investigation.
  • Distinct genetic bases and clinical presentations confirm CCHS and ROHHAD are separate conditions.

Conclusions:

  • CCHS and ROHHAD are distinct clinical entities, not on the same spectrum.
  • Further research is needed to elucidate the pathogenesis of ROHHAD.