Internal medicine
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An 86-year-old woman was admitted to our hospital with cryptogenic progressive dyspnea and dysphagia following a tracheostomy procedure 4 months prior to presentation. She exhibited fluctuating diplopia, bilateral vocal fold paralysis, normal nerve test results, negative findings for serum anti-acetylcholine receptor and anti-muscle-specific kinase antibodies, and positive findings for anti-LDL receptor-related protein 4 (LRP4). ⋯ Consequently, the patient was diagnosed with double-seronegative myasthenia gravis (DSN-MG) and began immunomodulatory therapy. This case emphasizes the diagnostic challenges of bulbar-type DSN-MG and underscores the value of a VFSS with edrophonium for diagnosing this condition.
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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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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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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.