A pause in pediatrics: implementation of a pediatric diagnostic time-out.

Objectives: Diagnostic errors are frequently the product of cognitive biases that arise when heuristic-based approaches fail. The efficiency-thoroughness tradeoff (ETTO) principle states sacrificing thoroughness for efficiency is normal and occurs frequently in medicine. The goal of a diagnostic timeout was to provide an actionable template for when providers transition to an analytical mindset and to help incorporate the ETTO principle during the diagnostic process.

Undiagnosed and Rare Diseases in Perinatal Medicine: Lessons in Context and Cognitive Diagnostic Error.

Critically ill neonates experience high rates of morbidity and mortality. Major diagnostic errors are identified in up to 20% of autopsied neonatal intensive care unit deaths. Neonates with undiagnosed or rare congenital disorders may mimic critically ill neonates with more common acquired conditions.

The Team-Based Approach to Undiagnosed and Rare Diseases.

Patients with undiagnosed or rare diseases often remain without a diagnosis for many years. Many are misdiagnosed or treated symptomatically without having an identified underlying disease process. Health care providers in general practice and subspecialists are equipped to diagnose diseases commonly seen.

How Doctors Think: Common Diagnostic Errors in Clinical Judgment-Lessons from an Undiagnosed and Rare Disease Program.

The scientific process of analysis and deduction is frequently, often subconsciously, used by physicians to develop a differential diagnosis based on patients' symptoms. Common disorders are most frequently diagnosed in general practice. Rare diseases are uncommon and frequently remain undiagnosed for many years.

BAG3 myofibrillar myopathy presenting with cardiomyopathy.

Myofibrillar myopathies (MFMs) are a heterogeneous group of neuromuscular disorders distinguished by the pathological hallmark of myofibrillar dissolution. Most patients present in adulthood, but mutations in several genes including BCL2-associated athanogene 3 (BAG3) cause predominantly childhood-onset disease. BAG3-related MFM is particularly severe, featuring weakness, cardiomyopathy, neuropathy, and early lethality.

Genomics in clinical practice: lessons from the front lines.

The price of whole-genome and -exome sequencing has fallen to the point where these methods can be applied to clinical medicine. Here, we outline the lessons we have learned in converting a sequencing laboratory designed for research into a fully functional clinical program.

Cognitive and motor outcomes of cocaine-exposed infants.

Context: Maternal use of cocaine during pregnancy remains a significant public health problem, particularly in urban areas of the United States and among women of low socioeconomic status. Few longitudinal studies have examined cocaine-exposed infants, however, and findings are contradictory because of methodologic limitations.

Objective: To assess the effects of prenatal cocaine exposure on child developmental outcomes.

Effects of cocaine/polydrug exposure and maternal psychological distress on infant birth outcomes.

To assess teratogenic effects of cocaine exposure and maternal psychological distress on birth outcomes, we conducted a longitudinal prospective study of 415 infants (218 cocaine-exposed--CE, 197 nonexposed--NE). Drug exposure was determined through a combination of maternal self-report, urine, and meconium screens. Maternal psychological distress postpartum was evaluated through a standardized, normative, self-report assessment.