The American journal of the medical sciences
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Our previous study showed that a single nucleotide polymorphisms (SNP) of 1888 C>T located at promoter region of human PLUNC gene might affect the susceptibility of nasopharyngeal carcinoma (NPC) in a Chinese population. This study aims to analyze the effect of the genetic variant on PLUNC promoter activity. ⋯ SNP 1888 C>T in the promoter region of PLUNC gene might be a functional mutant locus, indicating that individuals carrying SNP 1888 C-C genotype might be more likely to develop NCP due to the reduced expression of the PLUNC gene. Further functional studies on PLUNC genetic variants are warranted to verify our findings.
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Review Case Reports
Sequential Complications of Hypercalcemia, Necrotizing Granulomatous Vasculitis, and Aplastic Anemia Occurring in One Patient with Angioimmunoblastic T-cell Lymphoma.
In this case report of a patient with angioimmunoblastic T-cell lymphoma (AITL), we describe the occurrence of three sequential complications that have been reported uncommonly in this disease subtype. Firstly, the patient developed hypercalcemia due to elevated 1,25-didydroxyvitamin D. Although hypercalcemia in AITL is not rare (1-2% incidence), this case was unusual in that the complication developed when disease appeared stable and symptomatically, he was doing well otherwise. ⋯ Subsequently the patient developed profound pancytopenia with bone marrow confirming severe aplastic anemia. To our knowledge only one other case of aplastic anemia has been reported in a patient with AITL. We discuss the diagnostic and management considerations involved in this patient care and review similar reported cases.
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Review Case Reports
Co-Occurrence of Familial Hemophagocytic Lymphohistiocytosis Type 2 and Chronic Active Epstein-Barr Virus in Adulthood.
We report, to the best of our best knowledge, the oldest individual to ever be diagnosed with Familial Hemophagocytic Lymphohistiocytosis (FHL) Type 2 from homozygous c.1349C>T (p. T450M) missense variants in the PRF1 gene. ⋯ This case provides understanding of EBV, human genetics, and lymphoproliferative disorders while adding a unique differential diagnosis to adults who present with fever of unknown origin and diffuse lymphadenopathy without evidence of malignancy. This report explores the diagnosis and treatment of both HLH and CAEBV, encouraging discussion regarding current clinical management and future research needs.
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Coronavirus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Since it was first recognized in December 2019, it has resulted in the ongoing worldwide pandemic. Although acute hypoxic respiratory failure (AHRF) and acute respiratory distress syndrome (ARDS) are the main features of the disease, the involvement of other organs needs to be explored. ⋯ We performed a literature search of the Pubmed and Google Scholar database from 1996 to 2020 using the following keywords: severe acute respiratory syndrome coronavirus 2, coronavirus disease 2019, angiotensin-converting enzyme 2 receptor, and acute kidney injury to find the most pertinent and highest-quality of evidence. Any cited references were reviewed to identify relevant literature. The purpose of this review is to discuss, explore, and summarize the relationship between AKI in SARS-CoV-2 patients, with a focus on its epidemiology, association with ACE2 receptors, and pathophysiology of AKI.
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Up to 66% of patients admitted to the intensive care unit (ICU) for acute respiratory failure (ARF) develop ICU-acquired weakness, which is diagnosed by muscle strength testing. Muscle power, different from strength, is an important determinant of function that is not a common focus in patients surviving critical illness. Therefore, the purpose of this study is to assess muscle power in survivors of ARF. ⋯ Muscle power is significantly reduced in survivors of critical illness and associated with deficits in physical function. These preliminary findings may support therapeutic interventions aimed at improving muscle power to potentially increase functional benefit.