The Tohoku journal of experimental medicine
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Tohoku J. Exp. Med. · Jul 2022
Case ReportsPhenotypic Variability in a Family with Carney Complex Accompanied by a Novel Mutation Involving PRKAR1A.
Carney complex is a rare, autosomal dominant disease accompanied by multiple endocrine neoplastic syndromes. Mutations in the PRKAR1A gene have recently been reported as a cause of Carney complex, but genotype-phenotype correlations vary widely. A 15-year-old Japanese man (Case 1) with short stature visited our hospital with suspected Cushing's syndrome. ⋯ Here, we present a family of Carney complex cases with a novel PRKAR1A pathogenic variant exhibiting varied clinical phenotypes within each case. In these cases, some specific phenotypes of Carney complex, such as pigmentary disorders, myxomas, and PPNAD are important as clues for diagnosis and prognostic factors. Clinicians should consider further examination in patients with Carney complex-specific phenotypes.
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Tohoku J. Exp. Med. · Jul 2022
Diagnostic Accuracy of Liver Damage Based on Postmortem Computed Tomography Findings in High-Energy Trauma.
The liver is an organ that is frequently injured by blunt trauma. In clinical medicine, contrast-enhanced computed tomography (CT) is useful for diagnosing liver damage. However, detection of liver injury is difficult with postmortem CT (PMCT) that does not use contrast media. ⋯ Abnormal PMCT findings in and around the liver had insufficient diagnostic sensitivity, ranging from 19.4% to 38.7%. By contrast, the finding of a right lower rib fracture was more sensitive for suspected liver injury. Our results indicate that abdominal liver findings (hepatic surface gas, intrahepatic focal gas, and high-density fluid accumulation around the liver) are of limited utility for the diagnosis of liver injury, whereas a right lower rib fracture is a useful indirect finding.
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Tohoku J. Exp. Med. · Jul 2022
Case ReportsFibroepithelial Polyps Originating from the Posterior Nasal Septum: A Case Report.
Fibroepithelial polyps are benign tumors of mesodermal origin. They rarely occur in the nasal cavity, with only four such cases reported in the relevant English literature. The location was the inferior turbinate in three cases and anterior nasal septum in one case. ⋯ This is the first report about fibroepithelial polyps arising from the posterior nasal septum. She had no potential risk factors that might trigger fibroepithelial polyps in the nasal cavity. This case is a valuable example when considering the potential causes (e.g., female hormones and mechanical pressure) of nasal fibroepithelial polyps.
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Tohoku J. Exp. Med. · Jul 2022
Trifluoperazine Synergistically Potentiates Bortezomib-Induced Anti-Cancer Effect in Multiple Myeloma via Inhibiting P38 MAPK/NUPR1.
Multiple myeloma (MM) is a common hematological malignancy. Bortezomib (BTZ) is a traditional medicine for MM treatment, but there are limitations for current treatment methods. Trifluoperazine (TFP) is a clinical drug for acute and chronic psychosis therapy. ⋯ Meanwhile, BTZ combined with TFP could play a better role in the anti-MM effect in vivo through MM.1s xenograft tumor models. Furthermore, we explored the mechanism of TFP-induced apoptosis in MM, and we noticed that TFP might induce MM apoptosis by inhibiting p-P38 MAPK/NUPR1. In summary, our findings suggest that TFP could synergistically enhance the BTZ-induced anti-cancer effect in multiple myeloma, which might be a promising therapeutic strategy for MM treatment.
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Tohoku J. Exp. Med. · Jul 2022
Case ReportsProton Pump Inhibitor to Treat an Eosinophilic Duodenal Ulcer with Esophageal Involvement: A Pediatric Case.
Eosinophilic gastrointestinal disorders are diseases that cause inflammation and dysfunction due to infiltration of eosinophils into various regions of the gastrointestinal tract. Symptoms and treatment vary depending on lesion severity. We describe the first pediatric case of an eosinophilic duodenal ulcer with esophageal involvement that was effectively treated using proton pump inhibitor monotherapy. ⋯ There have been no previous reports of an eosinophilic duodenal ulcer with esophageal involvement without post-duodenal involvement at the time of diagnosis. The possibility of eosinophilic gastrointestinal disorders should be investigated in patients with duodenal ulcers by means of active biopsy, and patients should be investigated for other types of gastrointestinal lesions. Proton pump inhibitor monotherapy may be considered a first-line treatment for eosinophilic duodenal ulcers with esophageal involvement, depending on lesion severity.