Internal medicine
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Asthma is characterized by chronic airway inflammation as its primary pathological condition, which leads to various respiratory symptoms due to airway narrowing, with type 2 inflammation playing a central role. Asthma treatment, primarily centered on inhaled corticosteroids, aims to suppress type 2 inflammation and improve airway narrowing. ⋯ In addition, the concept of clinical remission has emerged as a treatment goal, further clarifying the objectives of asthma management. However, despite these advancements, the treatment of severe asthma driven primarily by non-type 2 inflammation remains a major challenge, and new biologics are currently being developed to address this issue.
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Whether or not pancreaticobiliary maljunction (PBM) is a risk factor for pancreatic cancer (PC) is unclear. We present a case of metachronous PC with PBM diagnosed after cholecystectomy for gallbladder cancer, in which follow-up imaging was possible until PC onset. ⋯ Pancreatography revealed PBM, and pancreatic duct brush cytology revealed adenocarcinoma. On reviewing the follow-up images, pancreatic morphological abnormalities, which had not been observed before cholecystectomy, were found to have gradually progressed, suggesting that biliopancreatic reflux led to pancreatic carcinogenesis.
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We encountered a family with hereditary renal failure, renal medullary cysts, pancreatic hypoplasia, hypomagnesemia, liver enzyme abnormalities, and diabetes mellitus (DM). We identified a novel heterozygous variant of HNF1B (NM_000458.4:c.791dup, p. ⋯ This variant is located in the DNA-binding domain of the HNF1B protein and produces a truncated protein with a de novo sequence, suggesting that this variant changes HNF1B binding to genomic DNA or causes nonsense-mediated mRNA decay. Based on the phenotypes and identified gene variants, this family suffers from autosomal dominant tubulointerstitial kidney disease caused by this HNF1B variant.
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A 51-year-old woman with persistent proliferation of natural killer (NK) cells in her peripheral blood was diagnosed with NK-large granular lymphocytic leukemia (NK-LGLL). During follow-up, computed tomography revealed multiple infiltrative pulmonary lesions. A flow cytometric analysis of bronchoalveolar lavage fluid showed infiltration of NK cells, resulting in a diagnosis of pulmonary infiltration by NK-LGLL. ⋯ She was started on 1 mg/kg prednisolone, which resulted in a durable reduction in these lesions. This is the first report of a NK-LGLL patient with pulmonary infiltration who received medication. Furthermore, treatment with prednisolone alone was successful.
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Aortic intimal sarcoma is a rare disease with no established treatment and a poor prognosis. A 70-year-old man who underwent surgery for a mass shadow extending from the ascending aorta to the left common carotid artery on contrast-enhanced computed tomography was diagnosed with intimal sarcoma and underwent postoperative radiotherapy (66 Gy/33 Fr). ⋯ No recurrence or enlargement was noted for four months following gamma knife radiosurgery and chemotherapy. To our knowledge, this is the first report of gamma knife radiosurgery delaying the progression of aortic intimal sarcoma.