Internal medicine
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Lysinuric protein intolerance (LPI) is an autosomal recessive disease and pulmonary alveolar proteinosis is a respiratory complication. A Japanese man in his 30s, diagnosed with LPI in infancy, was diagnosed with interstitial lung disease (ILD) similar to fibrotic nonspecific interstitial pneumonia (f-NSIP) based on the findings of a transbronchial lung cryobiopsy (TBLC). ⋯ Corticosteroid pulse therapy was administered twice, but the patient died approximately one month after emergency hospitalization. This is the first report of a patient with LPI diagnosed with ILD similar to f-NSIP using a cryobiopsy and who was treated with nintedanib.
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Cryoballoon ablation has been established as an effective method for pulmonary vein isolation and has recently been investigated for its efficacy of substrate modification on the left atrial roof area in patients with persistent atrial fibrillation. We herein report the first successful case of left atrial posterior wall isolation including roof line ablation using cryoballoons in a patient with persistent atrial fibrillation, dextrocardia, and situs inversus. Cryoballoon ablation proved to be a safe and straightforward approach to create lasting lesions along the left atrial roof line and left atrial posterior wall, even under challenging anatomical conditions.
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Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder characterized by intractable epistaxis, mucocutaneous telangiectasias, and arteriovenous malformations (AVMs) in multiple organs, including the lungs, liver, gastrointestinal tract, brain, and spinal cord. We herein report a 50-year-old Japanese man with HHT who experienced recurrent epistaxis, telangiectasia in the cornea, apex of the tongue and fingers; hepatic AVM; and a poorly developed main arterial trunk in the right middle cerebral artery. A genetic analysis revealed a novel heterozygous mutation in the activin A receptor-like type 1 gene, with a frameshift mutation in NM_000020.3:c.826_836del (p. Ile276ProfsTer112).
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This case report describes a patient who received hormone replacement therapy for secondary panhypopituitarism and subsequently developed diabetes. His physician decided to discontinue growth hormone (GH) replacement, which was previously deemed contraindicated. ⋯ Common factors linked to cirrhosis were excluded, leading to the belief that GH deficiency over several years was the primary contributor to cirrhosis. Therefore, when treating patients with GH insufficiency and diabetes, clinicians should carefully consider the potential implications of GH replacement therapy.
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A 19-year-old Japanese man was referred for a further evaluation of liver dysfunction. Despite the absence of symptoms or obesity, the liver biopsy results were consistent with non-alcoholic steatohepatitis. ⋯ A previously unreported variant, i.e., c.3866A>T (p. Asp1289Val) was detected on the patient's other allele and was considered a novel mutation, classified as 'likely pathogenic' according to the American College of Medical Genetics guidelines.