Crackles lung sound4/8/2024 ![]() Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. In one review, 50% of affected individuals had the full brain-lung-thyroid syndrome, 30% had involvement of brain and thyroid only, and 13% had isolated chorea only.ĭyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The risk for thyroid cancer is unknown and may not be increased. Thyroid dysfunction, the result of dysembryogenesis, can present as congenital hypothyroidism or compensated hypothyroidism. The risk for pulmonary carcinoma is increased in young adults with an NKX2-1-related disorder. Pulmonary disease, the second most common manifestation, can include respiratory distress syndrome in neonates, interstitial lung disease in young children, and pulmonary fibrosis in older persons. Chorea generally begins in early infancy or about age one year (most commonly) or in late childhood or adolescence, and progresses into the second decade after which it remains static or (rarely) remits. Childhood-onset chorea, the hallmark of NKX2-1-related disorders, may or may not be associated with respiratory distress syndrome or congenital hypothyroidism. doi:10.2471/BLT.20.NKX2-1-related disorders range from benign hereditary chorea (BHC) to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (also known as brain-lung-thyroid syndrome). Smoking and epidemics of respiratory infections. Sitas F, Harris-Roxas B, Bradshaw D, Lopez AD. National Heart, Blood, and Lung Institute. Chronic obstructive pulmonary disease: diagnosis and management. Inspiratory crackles-early and late-revisited: identifying COPD by crackle characteristics. ![]() ![]() Melbye H, Solis JCA, Jacome C, Pasterkamp H. Respiratory sound classification for crackles, wheezes, and rhonchi in the clinical field using deep learning. Sarkar M, Madabhavi I, Niranjan N, Dogra M. Wheezes, crackles, and rhonchi: simplifying description of lung sounds increases the agreement on their classification: a study of 12 physicians' classification of lung sounds from video recordings. Autoimmune diseases: Lupus and rheumatoid arthritis can both attack the lungs, causing the progressive scarring of lung tissues.Atelectasis: This is a condition that causes alveoli to collapse in certain areas of the lungs.Sarcoidosis: This is a rare condition that causes small patches of granular tissue, called granulomas, to form in the organs of the body, including the lungs.Idiopathic pulmonary fibrosis (IPF): This is a condition in which lung tissues become thick and stiff for unknown reasons.Pneumonia: The infection can also cause parenchymal inflammation (sometimes referred to as "interstitial pneumonia").Asbestosis: This is a condition that causes scarring of the lungs due to prolonged exposure to asbestos fibers in the air.Pulmonary edema: This is the swelling of the lungs due to the overload of fluid in tissues (sometimes referred to as "wet lung").Interstitial lung disease (ILD): This is an umbrella term used for a large group of diseases that cause scarring (fibrosis) of the lungs.
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