The American journal of the medical sciences
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Review Case Reports
Treatment Considerations in an HIV Elite Controller.
HIV elite controllers naturally suppress viral loads below limits of detection and evidence lack of evolution of infection for prolonged periods. The role of antiretroviral therapy (ART) in these individuals is controversial. Though recent data suggest that ART may decrease immune activation and prevent complications such as development of accelerated cardiovascular disease (CVD); treatment has not clearly demonstrated a benefit on clinical outcomes (e.g., HIV disease progression, CVD events, mortality). We describe a 49-year-old female HIV elite controller who presented with asymptomatic HIV infection for 26 years and review recent literature on the role of ART in this population.
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Review Case Reports
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree.
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare familial cancer syndrome with a germline mutation in the fumarate hydratase gene. Affected individuals are predisposed to development of cutaneous leiomyomas, uterine leiomyomas, and papillary renal cell carcinoma. We present a case of a mother and son pair affected with HLRCC, discuss clinical management, and examine potential syndromic manifestations in extended family members. Annual imaging surveillance for kidney cancer is recommended since 20-30% of individuals develop aggressive papillary type II renal cell carcinoma that can be difficult to treat once it has metastasized.
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Review Case Reports
Endemic and emerging coronavirus pulmonary infections.
Coronaviruses are a well-known cause of upper and lower respiratory disease, and since 2002 have been a recognized source of potential pandemic spread. Over the past two decades, since the Severe Acute Respiratory Syndrome (SARS) outbreak, a large body of research has accumulated on the virology, clinical symptoms and signs, and experimental treatments of Coronaviruses. In 2020, a new form of Coronaviruses (SARS-CoV-2) emerged and spread rapidly throughout the globe. ⋯ Furthermore, due to suboptimal testing capabilities, an early clinical diagnosis is not always possible. Here, we present a case of a patient with pneumonia thought to be caused by SARS-CoV-2 only to be found to have another Coronavirus. This emphasizes the need to be vigilant when evaluating patients with viral-like respiratory infections.
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Fabry disease is a frequent lysosomal storage disorder secondary to the deficiency of alpha-galactosidase A enzyme. This X-linked genetic disease realizes progressive and systemic manifestations that affect both male and female. Fabry disease may present as "classical", as "late-onset" or "non-classical" forms. ⋯ Diagnosis is more challenging in females who may express normal residual enzyme activity. Other plasmatic biomarkers, such as lyso-globotriaosylceramide are interesting, especially in females. In this review, we aimed to summarize main clinical manifestations of Fabry disease to know when to evoke Fabry disease and propose a practical diagnosis algorithm to know how to diagnose.
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Antimicrobial resistance (AMR) is a worldwide public health problem that reduces therapeutic options and increases the risk of death. The causative agents of healthcare-associated infections (HAIs) are drug-resistant microorganisms of the nosocomial environment, which have developed different mechanisms of AMR. ⋯ The ESKAPE group (Enterococcus faecalis and Enterococcus faecium, Staphylococcus aureus, Klebsiella pneumoniae, Acinetobacter baumannii, Pseudomonas aeruginosa, and Enterobacter aerogenes and Escherichia coli) is a frequent causative agents of HAIs. In this review, we address the issue of acquired genetic elements that contribute to AMR in the most frequent Gram-negative of ESKAPE, with a focus on last resort antimicrobial agents and the role of transference of genetic elements for the development of AMR.