Irish journal of medical science
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Mutations in NARS2 (MIM: 612803) are associated with combined oxidative phosphorylation deficiency 24 (COXPD24; MIM: 616239) that is a rare mitochondrial and a multisystem autosomal recessive disorder. ⋯ Herein, we report some novel phenotype and genotype features of two female patients in an Iranian consanguineous family with COXPD24, caused by a variant in NARS2-NM_024678.6: c.545 T > A; p.(Ile182Lys). Moreover, our data expanded the phenotype and genotype spectrum of NARS2-related disorder and confirmed an unpredictable nature of genotype-phenotype correlation in COXPD24.
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Coronavirus disease 2019 (COVID-19) has claimed the lives of millions of people globally. ⋯ Massive pulmonary thromboembolism may be a significant cause of death in asymptomatic COVID-19 infection.
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Colorectal cancer is the third most common cancer and requires more prognostic biomarkers for precise treatment. GPR39 is a GPCR which can interact with Zn and modulate the colonocytes' survival. The clinical significance of GPR39 in colon cancer has never been reported. ⋯ GPR39 was upregulated in colon cancer tissues compared with tumor-adjacent tissues. GPR39 was an independent prognostic biomarker in colon cancer for poor prognosis. EPCAM and PD-L1 were substantially associated with GPR39 expression, and they were also identified as prognostic biomarkers in colon cancers.
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Colorectal cancer (CRC) is one of the most common malignant gastrointestinal cancers. Metastasis is the major leading cause of death in patients with CRC, and many patients treated with radical surgery were diagnosed with metastasis during follow-up. However, the underlying molecular mechanisms regulating CRC metastasis are still elusive. ⋯ These results demonstrated that SOAT1 was upregulated in colon cancer. Upregulation of SOAT1 expression may promote CRC progression by enhancing the migration and invasion ability of CRC. Our results indicate that targeting SOAT1 activity may be applied as a promising therapeutic strategy for preventing the metastasis of CRC after radical surgical treatment.
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Nonfunctioning adrenal incidentalomas (NFAIs) are associated with increased cardiovascular risk, but the frequency of masked hypertension (MH) is uncertain in these patients. This study aimed to evaluate the prevalence of MH by ambulatory blood pressure monitoring in patients with NFAIs. ⋯ The prevalence of MH in the NFAI patient's was higher than in the control group. Patients with NFAI with high normal blood pressure should be evaluated for MH.