Chest
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Short telomeres are a common defect in idiopathic pulmonary fibrosis, yet mutations in the telomerase genes account for only a subset of these cases. ⋯ Our findings identify TINF2 as a mutant telomere gene in familial pulmonary fibrosis and suggest that infertility may precede the presentation of pulmonary fibrosis in a small subset of adults with telomere syndromes.
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Conventional medical thoracoscopy (MT), routinely performed in patients with pleural disease, does not always lead to a conclusive diagnosis. The endoscopic appearance of pleural diseases under white light could be misleading. Autofluorescence has been shown to be an interesting and effective diagnostic tool. The objective of this study was to evaluate the diagnostic value of autofluorescence imaging during MT. ⋯ The advantage of autofluorescence is its high sensitivity and NPV. It is useful to detect microlesions and delineate the pathologic margins. Autofluorescence can benefit patients with its better visualization.
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The impact of OSA on new cardiovascular events in patients undergoing coronary artery bypass graft (CABG) surgery is poorly explored. ⋯ OSA is independently associated with a higher rate of long-term cardiovascular events after CABG and may have prognostic and economic significance in CABG surgery.
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Mutations in BMPR2 encoding bone morphogenetic protein receptor type 2 (BMPRII) is the main genetic risk factor for heritable pulmonary arterial hypertension (PAH). The suspected mechanism is considered to be a defect of BMP signaling. The BMPRII receptor exists in a short isoform without a cytoplasmic tail, which has preserved BMP signaling. ⋯ Patients carrying a mutation affecting the cytoplasmic tail of BMPRII were characterized by an older age at diagnosis compared with other BMPR2 mutation carriers, less severe hemodynamic characteristics, and a greater chance of being a long-term responder to calcium channel blockers. Further investigations are needed to better understand the consequences of these BMPR2 mutations in BMPRII signaling pathways and their possible role in pulmonary arterial remodeling.
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A 44-year-old man presented with a 1-day history of sudden-onset abdominal pain. The pain was characterized as severe, diffuse, sharp, and nonradiating. Associated symptoms included nausea, vomiting, diarrhea, and subjective fevers. ⋯ His medical history was notable for gout and end-stage renal disease secondary to chronic nonsteroidal antiinflammatory drug use, for which he attended hemodialysis sessions three times weekly. Surgical history consisted of a currently nonfunctioning left upper extremity fistula, a longstanding right internal jugular PermCath IV access for chronic hemodialysis that had been removed 2 weeks prior to presentation, and a left brachiocephalic fistula. He did not smoke, consume alcohol, or have a history of illicit drug use.