Chest
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A 26-year-old man presented with a 2-week history of productive cough and a 1-year history of effort-related dyspnea. His medical history was significant for hay fever and exertion-triggered asthma. He was not taking medicines regularly but was using inhaled salbutamol as needed. He was an ex-smoker, with a previous history of 2-pack years.
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Niemann-Pick Disease type B (NPDB) is a rare autosomal recessive disease belonging to the family of lysosomal storage disorders. NPDB is caused by mutations of sphingomyelin phosphodiesterase 1 gene (SMPD1) and is characterized by hepatosplenomegaly, interstitial lung disease, recurrent pulmonary infections, and neurologic disorders. Bronchiectasis are atypical. ⋯ The singularity of this case lies in the presence of bronchiectasis, which is an unprecedently described phenotype of NPDB. This finding was accompanied by the detection of a novel SMPD1 mutation (p. Ala46=) of uncertain meaning.
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The primary curative treatment for thymic malignancies is surgery. For lung and esophageal cancer, substantive disparities in outcomes by race exist. Many of these disparities are attributed to the decreased use of surgery in non-White patients. Although thymic malignancies are treated by the same specialists as lung and esophageal cancer, it is unknown if there are racial disparities in the treatment of thymic malignancies. ⋯ A racial disparity exists in surgical therapy for thymic malignancies.