The Tohoku journal of experimental medicine
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Tohoku J. Exp. Med. · Apr 2022
Case ReportsTwo Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.
Cerebellar ataxia, mental retardation, and disequilibrium syndrome 4 (CAMRQ4) is early onset neuromotor disorder and intellectual disabilities caused by variants of ATP8A2. We report sibling cases and systematically analyze previous literature to increase our understanding of CAMRQ4. Japanese siblings presented with athetotic movements at 1 and 2 months of age. ⋯ The p.(Arg581*) variant has been reported, while the variant p.(Arg720*) was novel. The symptoms did not progress in the early period of development, which makes it difficult to distinguish from dyskinetic cerebral palsy, particularly in solitary cases. However, visual and hearing impairments associated with involuntary movements and severe developmental delay may be a clue to suspect CAMRQ4.
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Tohoku J. Exp. Med. · Apr 2022
Severe Acute Respiratory Syndrome Coronavirus 2 Induces Hepatocyte Cell Death, Active Autophagosome Formation and Caspase 3 Up-Regulation in Postmortem Cases: Stereological and Molecular Study.
This research investigated the histopathological changes in the tissue of the lung, heart and liver, hepatocyte cell death, autophagy, and the apoptosis inductions in the postmortem cases. Since December 2019, coronavirus disease 2019 (COVID-19) has become a significant global health concern. In order to clarify the changes in tissues of the lung, heart and liver by COVID-19, samples were taken from five patients who died of COVID-19 and five control cases, and the pathological changes in the lung, liver, and heart tissue were studied by X-ray, computed tomography, histological studies, and stereological analysis. ⋯ Real-time PCR results showed that the Bcl2, Caspase3, ATG5, and LC3 decreased while the Bax increased. COVID-19 causes fibrotic changes in the lung tissue and hepatocyte mortality in the liver tissue. Besides, it elevates the level of apoptosis and autophagy markers.
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Tohoku J. Exp. Med. · Apr 2022
Strategy of Pancreatectomies for Pancreatic Ductal Adenocarcinoma in Patients with a History of Gastrectomy.
Recently, the incidence of pancreatectomy for patients with a history of upper abdominal surgery has been increasing. The clinical courses of 307 patients who underwent the pancreatectomy for pancreatic ductal adenocarcinoma (PDAC) were retrospectively reviewed to clarify the impact of a history of gastrectomy in patients undergoing a pancreatectomy for PDAC. Among 307 patients, 28 (9.1%) had a history of gastrectomy, while 279 did not. ⋯ In patients with a history of gastrectomy, there were significantly more patients with poor prognostic factors, including a low preoperative BMI (P = 0.0009) and low completion rate of adjuvant chemotherapy (P = 0.0294) as compared with those without a history of gastrectomy. A low preoperative BMI significantly reduced the completion rate of adjuvant chemotherapy (P = 0.0186), which may lead to poor prognostic outcomes. In conclusion, perioperative nutritional management is important to reduce postoperative BMI loss and obtain a better prognosis after a pancreatectomy for PDAC in patients with a history of gastrectomy.
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Tohoku J. Exp. Med. · Apr 2022
Differential Expression of Urinary Exosomal miRNA in Idiopathic Membranous Nephropathy and Evaluation of its Diagnostic Value.
Urinary exosomal miRNA is an ideal non-invasive biomarker of renal disease, but little is known about its ability to diagnose idiopathic membranous nephropathy (IMN). The purpose of this study was to explore the clinical value of urinary exosomal miRNAs in IMN. Urine samples were collected from 36 IMN patients and 36 healthy subjects. ⋯ The analysis of Receiver Operating Characteristic curves revealed that miR-30b-5p and miR-9-5p showed a potential diagnostic value for IMN. This study showed that there were significant differences in urinary exosome miRNA profiles between IMN patients and healthy persons. MiR-30b-5p and miR-9-5p may become new non-invasive biomarkers of IMN.
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Tohoku J. Exp. Med. · Apr 2022
Case ReportsAnti-Mi-2 and anti-TIF1-γ Double-Positive Juvenile Dermatomyositis Treated under Diagnosis of Chronic Eczema: A Case Report.
Myositis-specific autoantibodies are relevant factors that define the disease phenotype of dermatomyositis (DM). Anti-Mi-2 antibody-positive DM patients may present with the typical skin lesions and prominent myositis. On the other hand, adult DM patients with anti-TIF-γ antibody seem to be associated with internal malignancy. ⋯ The diagnosis of JDM was made according to the European League Against Rheumatism (EULAR) diagnostic criteria. A high dose of corticosteroids and following intravenous cyclophosphamide treatment (750 mg three times) resulted in an improvement in clinical manifestations and functional outcomes, and recurrence did not occur. Estimation of autoantibodies may serve as an ancillary tool in delineating and defining distinct clinical phenotypes in JDM.