The Tohoku journal of experimental medicine
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Tohoku J. Exp. Med. · Aug 2023
Case ReportsAssociation of Familial Fanconi Syndrome with a Novel GATM Variant.
Fanconi syndrome is a disorder of the proximal renal tubule. Recently, advanced genetic analysis technology has revealed that several genes cause familial Fanconi syndrome. We identified a family with autosomal dominant Fanconi syndrome and chronic kidney disease with a novel glycine amidinotransferase (GATM) variant. ⋯ The heterozygous missense variants in GATM have been reported to cause familial Fanconi syndrome, which manifests early in life and progresses to renal glomerular failure by mid-adulthood. The novel GATM variant detected in our cases was suspected to be associated with the development of Fanconi syndrome. GATM variants should be tested in patients with idiopathic Fanconi syndrome.
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Tohoku J. Exp. Med. · Aug 2023
Case ReportsPrimary Malignant Lymphoma of the Cauda Equina Diagnosed after Decompression for Lumbar Spinal Stenosis: A Case Report.
Primary malignant lymphoma confinement to the cauda equina is rare. Only 14 cases of primary malignant lymphoma in the cauda equina have been reported. In these cases, the clinical features were similar to those of lumbar spinal canal stenosis (LSCS). ⋯ The patient died four months after the first surgery. Rapid progression of muscle weakness, which cannot be prevented by decompression surgery, and swollen cauda equina on MRI may be signs of this disorder. Gadolinium-enhanced MRI, 18F-FDG PET, and histological investigation of the cauda equina should be performed for diagnosing primary malignant lymphoma of the cauda equina.
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Tohoku J. Exp. Med. · Aug 2023
Plasma sLRP-1 Level Independently Relates to a Higher Risk of Moderate-Severe Stenosis by Gensini Score in Acute Coronary Syndrome Patients.
Soluble low-density lipoprotein receptor-related protein-1 (sLRP-1) plays a crucial role in facilitating inflammation, lipid accumulation, and atherosclerosis, and the latter factors are involved in the pathology of cardiovascular diseases. This study aimed to explore the ability of plasma sLRP-1 for reflecting stenosis degree in acute coronary syndrome (ACS) patients. sLRP-1 was detected from plasma by enzyme-linked immunosorbent assay in 169 ACS patients and 77 non-ACS subjects (as controls) after admission. Our study illustrated that sLRP-1 was increased in ACS patients versus controls (P < 0.001). ⋯ After adjustment, sLRP-1 [odds ratio (OR) = 1.333, P = 0.045] independently estimated a higher risk of moderate-severe stenosis, so did numbers of coronary artery lesions (OR = 2.869, P = 0.001), but ejection fraction forecasted a lower risk (OR = 0.880, P = 0.012). Interestingly, a combination of sLRP-1, ejection fraction, and numbers of coronary artery lesions exhibited a good ability to estimate moderate-severe stenosis risk with an area under the curve (95% confidence interval) of 0.845 (0.783-0.906). In summary, increased plasma sLRP-1 represents an aggravated inflammation, impaired cardiac function, and especially a higher stenosis severity in ACS patients.
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Tohoku J. Exp. Med. · Aug 2023
LCZ696 Ameliorates Tachycardia-Induced Cardiac Calcium Dyshomeostasis in the SERCA2α-Dependent Pathway.
The incidence, prevalence, and economic burden of heart failure have continued to increase worldwide. It remains unclear whether LCZ696 can ameliorate calcium reuptake in the sarcoplasmic reticulum via the sarcoplasmic endoplasmic reticulum calcium ion-ATPase 2α (SERCA2α)-dependent pathway during cardiac diastole. We investigated whether LCZ696 could ameliorate tachycardia-induced myocardial injury by modulating cardiac SERCA2α levels. ⋯ Ca2+-related proteins are affected by the overexpression of SERCA2α. LCZ696 improved tachycardia-induced myocardial injury by increasing SERCA2α expression, which reversed the development of heart failure in ISO-induced mice. These results provide new insights into how sustained LCZ696 treatment in heart failure improves cardiac function through intracellular Ca2+-regulatory mechanisms.
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Tohoku J. Exp. Med. · Aug 2023
Severe Bone Marrow Aplasia Following Macrophage Activation Syndrome in Systemic Lupus Erythematosus.
Macrophage activation syndrome (MAS) is a potentially fatal complication of rheumatic diseases, characterized by activated macrophages with hemophagocytosis and multiple organ damage. We report a case of MAS associated with systemic lupus erythematosus that initially presented with severe liver dysfunction. ⋯ Nevertheless, the administration of immunosuppressants resulted in the recovery of blood counts within two weeks. When severe MAS results in cytokine overproduction, bone marrow aplasia may occur, for which immunosuppressive therapy may be highly effective.