ABSTRACT
Ornithine transcarbamylase deficiency (OTCD) is a rare, X linked disorder that can manifest in late adulthood in heterozygous females as severe hyperammonaemia following environmental stressors. We present a case of hyperammonaemic encephalopathy that was triggered by glucocorticoid administration in an adult woman with heterozygous OTCD with clinical response to haemodialysis, ammonia scavengers and a high-calorie, low-protein diet.
Subject(s)
Hyperammonemia , Ornithine Carbamoyltransferase Deficiency Disease , Humans , Female , Ornithine Carbamoyltransferase Deficiency Disease/complications , Ornithine Carbamoyltransferase Deficiency Disease/diagnosis , Hyperammonemia/chemically induced , Glucocorticoids/therapeutic use , Glucocorticoids/adverse effects , Renal Dialysis , Brain Diseases/chemically induced , Brain Diseases/etiology , Middle Aged , Diet, Protein-Restricted/adverse effectsABSTRACT
Pembrolizumab is an immune checkpoint inhibitor used in many cancer types, including genitourinary cancers. Although immunotherapies have dramatically changed the landscape of cancer treatment by providing an alternative to traditional chemotherapy, they have been associated with significant immune-related adverse events (IRAEs) with wide-ranging clinical manifestations. We present the case of an elderly woman on pembrolizumab for metastatic bladder cancer who developed cutaneous IRAE with lichenoid eruptions that responded to high-dose intravenous glucocorticoids.
Subject(s)
Lichenoid Eruptions , Neoplasms , Female , Humans , Aged , Immune Checkpoint Inhibitors/therapeutic use , Antibodies, Monoclonal, Humanized/therapeutic use , Lichenoid Eruptions/chemically induced , Lichenoid Eruptions/drug therapy , Neoplasms/drug therapyABSTRACT
BACKGROUND: Efforts in global heath need to deal not only with current challenges, but also to anticipate new scenarios, which sometimes unfold at lightning speed. Predictive modeling is frequently used to assist planning, but outcomes depend heavily on a subset of critical assumptions, which are mostly hampered by our limited knowledge about the many factors, mechanisms and relationships that determine the dynamics of disease systems, by a lack of data to parameterize and validate models, and by uncertainties about future scenarios. DISCUSSION: We propose a shift from a focus on the prediction of individual disease patterns to the identification and mitigation of broader fragilities in public health systems. Modeling capabilities should be used to perform "stress tests" on how interrelated fragilities respond when faced with a range of possible or plausible threats of different nature and intensity. This system should be able to reveal crosscutting solutions with the potential to address not only one threat, but multiple areas of vulnerability to future health risks. Actionable knowledge not based on a narrow subset of threats and conditions can better guide policy, build societal resilience and ensure effective prevention in an uncertain world.
