Undiagnosed and Rare Diseases in Critical Care, An Issue of Critical Care Clinics

1st Edition, Volume 38-2 - April 8, 2022
Editors: Robert Kliegman, Brett J. Bordini
Language: English
Hardback ISBN:
9 7 8 - 0 - 3 2 3 - 8 3 6 0 4 - 3
eBook ISBN:
9 7 8 - 0 - 3 2 3 - 8 3 6 0 5 - 0

In this issue of Critical Care Clinics, guest editors Drs. Robert M. Kliegman and Brett J. Bordini bring their considerable expertise to the topic of Undiagnosed and Rare Disease… Read more

Undiagnosed and Rare Diseases in Critical Care, An Issue of Critical Care Clinics

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In this issue of Critical Care Clinics, guest editors Drs. Robert M. Kliegman and Brett J. Bordini bring their considerable expertise to the topic of Undiagnosed and Rare Diseases in Critical Care. Top experts in the field cover key topics such as critical genetic arrhythmia disorders, uncommon causes of rhabdomyolysis, status epilepsy syndromes, autoimmune encephalitis, rapid-onset paralysis and weakness, and more.

Cover image
Title page
Table of Contents
Copyright
Contributors
Forthcoming Issues
Preface
Undiagnosed and Rare Diseases in Critical Care: The Role of Diagnostic Access
Key points
A framework for diagnostic error
The role of diagnostic access
Undiagnosed and rare diseases in critical care
Summary
Clinics care points
Rapid Exome and Genome Sequencing in the Intensive Care Unit
Key points
The technology
Exome sequencing versus genome sequencing
Genomic testing in critical care
Evidence for impacting decision making
Frontiers in genomic medicine: long-read technologies and RNA sequencing
Concluding remarks
Clinics care points
Diagnostic Time-Outs to Improve Diagnosis
Key points
Introduction
Understanding diagnostic error
Mitigating diagnostic error
The diagnostic time-out
Discussion
Clinics care points
Subtypes and Mimics of Sepsis
Key points
Introduction
Pathophysiology of sepsis
Evidence for phenotypic and genetic variation in sepsis
Macrophage activation syndrome
Atypical hemolytic uremic syndrome
Endotoxemic shock
Sepsis and artificial intelligence
Summary
Clinics care points
All that Wheezes is not Asthma or Bronchiolitis
Key points
Introduction
Asthma and bronchiolitis mimics: the differential diagnosis of wheezing
Summary
Clinics care points
Disclosure
Recognition and Management Considerations of Cardiac Channelopathies in the Intensive Care Unit
Key points
Introduction
Background
The major genetic arrhythmia syndromes
Critical care considerations for a patient with a cardiac channelopathy
Management and evaluation of a patient after an out-of-hospital cardiac arrest
Summary
Clinics care points
Undiagnosed and Rare Diseases in Critical Care: Severe Mucocutaneous Medication Reactions
Key points
Drug reaction with eosinophilia and systemic symptoms/drug-induced hypersensitivity syndrome
Stevens-Johnson syndrome/toxic epidermal necrolysis
Reactive infectious mucocutaneous eruption
Stevens-Johnson syndrome and toxic epidermal necrolysis–like lupus erythematosus
Methotrexate-induced epidermal necrosis
Stevens-Johnson syndrome and toxic epidermal necrolysis–like graft-versus-host disease
Discussion
Clinics care points
Uncommon Causes of Rhabdomyolysis
Key points
Introduction
Definitions and general features
Clinical diagnostic criteria
Patterns
Complications
Treatment
Specific diseases
Summary
Common Presentations of Rare Drug Reactions and Atypical Presentations of Common Drug Reactions in the Intensive Care Unit
Key points
Introduction
Neurologic
Cardiovascular
Pulmonary
Hepatic
Metabolic
Cutaneous
Summary
Clinics care points
Pediatric Acute Liver Failure
Key points
Introduction
Presentation
Differential diagnosis
Management
Outcomes
Clinics care points
Uncommon Causes of Acute Kidney Injury
Key points
Introduction
Structural diseases
Immune-mediated acute kidney injury
Thrombotic microangiopathy
Disseminated intravascular coagulation
Hemolytic uremic syndrome
Shiga toxin–associated hemolytic uremic syndrome
Atypical hemolytic uremic syndrome
Pathophysiology
Thrombocytopenic purpura
Pregnancy-associated thrombotic microangiopathy
Overview of the diagnostic approach to the critically ill patient with suspected TMA
Summary
Zebras Seize the Day: Rare Causes of Status Epilepticus Across the Continuum of Critical Care
Key points
Introduction
Discussion
Autoimmune and inflammatory etiologies of status epilepticus
Rare toxic and metabolic etiologies of status epilepticus
Rare infectious etiologies of status epilepticus
Summary
Clinics care points
Primary Causes of Hypertensive Crisis
Key points
Introduction
Presentation
Causes
Evaluation
Summary
Clinics care points
Autoimmune Encephalitis: Distinguishing Features and Specific Therapies
Key points
Initial presentation of autoimmune encephalitis and diagnostic evaluation
Selected autoimmune encephalitis phenotypes
Differential diagnosis
Pathogenesis
Treatment
Treatments in preclinical stages
General approach to management
Summary
Rapid Onset of Neuromuscular Paralysis or Weakness
Key points
Introduction
Initial approach in the patient with recognizable pattern of acquired neuromuscular disease
Recognizing the atypical or outlier pattern of genetic respiratory neuromuscular disease in the intensive care unit patient
Clinics care points
Uncommon Etiologies of Shock
Key points
Introduction
Summary
Clinics care points
Genetic Defects that Predispose to Serious Viral Infections
Key points
Introduction
Clinical and laboratory evaluation of a patient with severe, unusual, or recalcitrant viral infections
Advanced testing for primary immune deficiency disorders with viral susceptibility
Primary immune deficiency disorders with viral susceptibility due to innate immune defects
Adaptive (T- or B-cell) defects that result in susceptibility to viral infections
Summary
Clinics care points

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Undiagnosed and Rare Diseases in Critical Care, An Issue of Critical Care Clinics

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Robert Kliegman

Brett J. Bordini