The American journal of the medical sciences
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Review Case Reports
Cerebral venous thrombosis in an adult with relapsing minimal change disease.
Minimal change disease (MCD) is a well-known cause of fulminant acute nephrotic syndrome (NS) and has been associated with thrombotic complications. We report the case of a 51-year-old woman with previous biopsy-proven MCD in remission who presented with worsening headache and acute confusion shortly after a relapse of the NS and was diagnosed with cerebral venous thrombosis (CVT) complicated by intracranial hemorrhage and midline shift. One month prior, she had been initiated on an oral contraceptive agent during remission of the NS. ⋯ The outcome in the remaining cases was favorable with only one report (5%) of residual neurological deficit. Of the available kidney biopsy results, MCD was the most common diagnosis (70%), raising the hypothesis that the fulminant acute onset of the NS might be a predisposing factor for this serious thrombotic complication. Clinicians should have a high index of suspicion for CVT in patients with the NS who present with new-onset neurological symptoms, including headache and nausea.
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Medical language provides essential communication with patients and among healthcare providers. Some words appear frequently in this communication, in clinical records, and in the medical literature, and the use of these words assumes that the listener and reader understand their meaning in the context related to their current use. Words, such as syndrome, disorder, and disease, should have obvious definitions but often, in fact, have uncertain meanings. ⋯ The development of electronic medical records, internet-based communication, and advanced statistical techniques has the potential to clarify important features of syndromes. However, the recent analysis of certain subsets of patients in the ongoing COVID-19 pandemic has demonstrated that even large amounts of information and advanced statistical techniques using clustering or machine learning may not provide precise separation of patients into groups. Clinicians should use the word syndrome carefully.
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Interstitial lung disease (ILD) is a leading cause of mortality in rheumatoid arthritis (RA), particularly in those with the usual interstitial pneumonia subtype (RA-UIP). Serum antibodies to peptidylarginine deiminase type 4 (anti-PAD4), particularly a subset that cross-react with PAD3 (PAD3/4XR), have been associated with imaging evidence of ILD. We aimed to determine the specificity of anti-PAD4 antibodies in RA-ILD and to examine associations with markers of ILD severity. ⋯ We demonstrate the presence of serum anti-PAD4 antibodies in a subset of patients with RA-UIP that were notably associated with better lung function, less fibrosis and decreased mortality.
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Review Case Reports
Extremely aggressive course in a poorly differentiated thyroid carcinoma presenting a double mutation of the TERT promoter.
BRAF and TERT oncogenes hotspot mutations are associated with a more aggressive outcome in thyroid carcinomas (TC). TERT promoter (pTERT) mutations (C228T and C250T) are related to cancer growth and reduced overall- and disease-free survivals in TC. ⋯ This report describes both pTERT hotspot mutations in the same PDTC patient presenting a very aggressive course, even for PDTC, suggesting a relationship between the two events. However, more studies are needed to prove this causality.