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Related Concept Videos

Other Pulmonary Disorders01:17

Other Pulmonary Disorders

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.
COPD: Pathogenesis and Clinical Features01:20

COPD: Pathogenesis and Clinical Features

Chronic obstructive pulmonary disease (COPD) is a group of lung conditions that progressively worsen over time, including chronic bronchitis and emphysema. This cluster of diseases collectively leads to a gradual and irreversible decline in lung function over time.
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
Pulmonary Hypertension: Classification and Pathogenesis01:30

Pulmonary Hypertension: Classification and Pathogenesis

Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
Chronic Obstructive Pulmonary Disease III: Chronic Bronchitis Features01:24

Chronic Obstructive Pulmonary Disease III: Chronic Bronchitis Features

Chronic bronchitis is a key phenotype of chronic obstructive pulmonary disease (COPD), characterized by airway-centered inflammation and mucus overproduction. It develops from long-term exposure to harmful particles or gases, most commonly cigarette smoke, which triggers a persistent inflammatory response.Cellular and Structural ChangesInflammation initially affects the large bronchi and later the smaller airways, with infiltration by immune cells, including neutrophils, macrophages, and...
Chronic Obstructive Pulmonary Disease IV: Clinical Manifestations01:19

Chronic Obstructive Pulmonary Disease IV: Clinical Manifestations

Chronic Obstructive Pulmonary Disease, or COPD, is a long-term condition marked by persistent and only partially reversible airflow limitation. It involves two overlapping conditions—chronic bronchitis and emphysema—which often co-appear but differ in dominant symptoms and underlying mechanisms.Chronic Bronchitis FeaturesChronic bronchitis presents with a persistent productive cough and thick, sometimes purulent mucus due to airway inflammation, enlarged mucus glands, and goblet cell...
Chronic Obstructive Pulmonary Disease-II: Pathophysiology01:20

Chronic Obstructive Pulmonary Disease-II: Pathophysiology

Chronic Obstructive Pulmonary Disease (COPD) pathophysiology is intricate and multifaceted, involving a complex interplay of physiological processes. Understanding these mechanisms is crucial for effectively managing and treating COPD. Here is an in-depth look at the critical elements in the pathophysiology of COPD:
Chronic Inflammation

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Updated: Jun 13, 2026

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
06:15

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus

Published on: March 6, 2019

Bloom syndrome with lung involvement.

Girija Nair1, Ivona Lobo, T K Jayalaksmi

  • 1Department of Tuberculosis and Chest, Dr. D. Y. Patil Medical College, India.

Lung India : Official Organ of Indian Chest Society
|May 6, 2010
PubMed
Summary
This summary is machine-generated.

This case study highlights Bloom syndrome, a rare genetic disorder, in a young male presenting with respiratory symptoms and diabetes. Clinical features and imaging confirmed the diagnosis, emphasizing the syndrome

Keywords:
Bloom's syndromeconsanguinous parentagegrowth retardationrespiratory infectionstelangiectasia

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Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
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Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

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Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
06:15

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus

Published on: March 6, 2019

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
04:44

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

Area of Science:

  • Genetics
  • Rare Diseases
  • Pulmonology

Background:

  • Bloom syndrome is a rare autosomal recessive disorder characterized by chromosomal instability, genomic instability, and increased cancer risk.
  • Individuals with Bloom syndrome often exhibit short stature, facial telangiectasia, and immune deficiencies.
  • Respiratory complications are not typically highlighted as a primary feature of Bloom syndrome.

Purpose of the Study:

  • To report a unique case of Bloom syndrome presenting with significant respiratory manifestations.
  • To describe the clinical and radiological findings in a patient with Bloom syndrome and pulmonary disease.
  • To increase awareness of potential pulmonary involvement in Bloom syndrome.

Main Methods:

  • Case report of a 24-year-old male.
  • Clinical examination including respiratory assessment.
  • Diagnostic imaging: Chest X-ray and CT thorax.
  • Diagnosis based on characteristic clinical features.

Main Results:

  • The patient presented with cough, breathlessness, and diabetes mellitus.
  • Physical examination revealed short stature, dolicocephaly, polydactyly, and facial telangiectasia.
  • Chest X-ray showed emphysema and right middle zone opacity.
  • CT thorax revealed bilateral cystic bronchiectasis and bronchiolitis obliterans.

Conclusions:

  • Bloom syndrome can present with severe respiratory complications, including cystic bronchiectasis and bronchiolitis obliterans.
  • This case underscores the importance of considering rare genetic syndromes in patients with unexplained respiratory symptoms.
  • Early recognition and management of respiratory issues are crucial in individuals with Bloom syndrome.