Undiagnosed And Rare Diseases In Critical Care An Issue Of Critical Care Clinics 38

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. Contains 17 relevant, practice-oriented topics including understanding cognitive diagnostic errors in the ICU; rapid WES/WGS in the ICU; diagnostic time-outs to improve diagnosis; when “sepsis” is not sepsis: MAS, HLH, malignancies and other sepsis mimics; all that wheezes is not asthma or bronchiolitis; and more. Provides in-depth clinical reviews on undiagnosed and rare diseases in critical care, offering actionable insights for clinical practice. Presents the latest information on this timely, focused topic under the leadership of experienced editors in the field. Authors synthesize and distill the latest research and practice guidelines to create clinically significant, topic-based reviews.

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. Contains 17 relevant, practice-oriented topics including understanding cognitive diagnostic errors in the ICU; rapid WES/WGS in the ICU; diagnostic time-outs to improve diagnosis; when "sepsis" is not sepsis: MAS, HLH, malignancies and other sepsis mimics; all that wheezes is not asthma or bronchiolitis; and more. Provides in-depth clinical reviews on undiagnosed and rare diseases in critical care, offering actionable insights for clinical practice. Presents the latest information on this timely, focused topic under the leadership of experienced editors in the field. Authors synthesize and distill the latest research and practice guidelines to create clinically significant, topic-based reviews.

In this issue of Medical Clinics of North America, guest editors Drs. Heather Toth, Robert Kliegman, and Brett Bordini brings their considerable expertise to the topic of Adolescent Undiagnosed and Rare Diseases. Top experts address diagnostic dilemmas, disease mimics, unusual manifestations of common diseases, and rare disorders presenting as more common diseases in adolescents. Contains 15 relevant, practice-oriented topics including syndromes with severe acne; common variable immunodeficiency (CVID); overlapping pain syndrome; late onset congenital hypoventilation syndrome (LOCH); adolescent onset of muscle weakness; and more. Provides in-depth clinical reviews on adolescent undiagnosed and rare diseases, offering actionable insights for clinical practice. Presents the latest information on this timely, focused topic under the leadership of experienced editors in the field. Authors synthesize and distill the latest research and practice guidelines to create clinically significant, topic-based reviews.

In collaboration with Consulting Editor, Dr. Lucky Jain, Drs. Robert Kliegman and Bret Bordini have put together topics that provide a current clinical update on the treatment and management of undiagnosed and rare diseases in the neonate. Expert authors have contributed clinical review articles on the following topics: Neonatal Liver Failure; Neonatal Autoinflammatory Disorders; Rare or Unusual Dermatologic Disorders In Neonates; Neonatal Immune Deficiency; Congenital Diarrhea Syndromes; Nonimmune Hydrops; DNA Depletion Syndromes; Genomic Approach to Dysmorphology Syndromes; Nonimmune Anemias; Severe Metabolic Crisis (Metabolic Acidosis, Unresponsive Hypoglycemia, Hyperammonemia); Heterotaxia Syndromes; Neonatal Appendicitis; Avoiding Diagnostic Errors in Neonatology; and Differentiating Congenital Myopathy from Congenital Muscular Dystrophy. Readers will come away with the information they need to improve outcomes in the neonate.

Dr. Kliegman and Dr. Bordini have written a primer on Undiagnosed and Rare Diseases in Children. Leading experts have presented the current knowledge in the following areas: How Doctor’s Think: Common Diagnostic Errors in Clinical Judgment; Team-Based Approach to Undiagnosed and Rare Diseases; Ending a Diagnostic Odyssey: Family Education Counselling and Their Response to Eventual Diagnosis; Eczema and Urticaria as Manifestations of Undiagnosed and Rare Diseases; Usual and Unusual Manifestations of Familial Hemophagocytic and Langerhans Cell Histiocytosis Syndromes; When Autistic Behavior Suggests a Disease Other than Classic Autism; Non-classic Inflammatory Bowel Disease in Young Infants; IPEX and Other Disorders; Usual and Unusual Presentation of Mitochondrial Disorders; When to Suspect Auto-inflammatory/Recurrent Fever Syndromes; Primary and Secondary Causes of Autonomic Dysfunction; Usual and Unusual Manifestations of Systemic and CNS Vasculitis; Fever of Unknown Origin; Differentiating Familial Neuropathies from Guillain-Barre Syndrome; and Munchausen by Proxy: A Factitious Undiagnosed Disease. Readers will come away with cutting-edge information to use immediately in their clinical management of patients.

Getting the right diagnosis is a key aspect of health care - it provides an explanation of a patient's health problem and informs subsequent health care decisions. The diagnostic process is a complex, collaborative activity that involves clinical reasoning and information gathering to determine a patient's health problem. According to Improving Diagnosis in Health Care, diagnostic errors-inaccurate or delayed diagnoses-persist throughout all settings of care and continue to harm an unacceptable number of patients. It is likely that most people will experience at least one diagnostic error in their lifetime, sometimes with devastating consequences. Diagnostic errors may cause harm to patients by preventing or delaying appropriate treatment, providing unnecessary or harmful treatment, or resulting in psychological or financial repercussions. The committee concluded that improving the diagnostic process is not only possible, but also represents a moral, professional, and public health imperative. Improving Diagnosis in Health Care, a continuation of the landmark Institute of Medicine reports To Err Is Human (2000) and Crossing the Quality Chasm (2001), finds that diagnosis-and, in particular, the occurrence of diagnostic errorsâ€"has been largely unappreciated in efforts to improve the quality and safety of health care. Without a dedicated focus on improving diagnosis, diagnostic errors will likely worsen as the delivery of health care and the diagnostic process continue to increase in complexity. Just as the diagnostic process is a collaborative activity, improving diagnosis will require collaboration and a widespread commitment to change among health care professionals, health care organizations, patients and their families, researchers, and policy makers. The recommendations of Improving Diagnosis in Health Care contribute to the growing momentum for change in this crucial area of health care quality and safety.

Covering every aspect of general pediatric practice, as well as details for many pediatric subspecialists, Nelson Textbook of Pediatrics, 22nd Edition, brings you fully up to date with everything from rapidly changing diagnostic and treatment protocols to new technologies to the wide range of biologic, psychologic, and social problems faced by children today. Edited and written by experts and prominent members of the pediatric medical community, this comprehensive two-volume reference covers both the science and art of pediatric practice. It remains the reference of choice among pediatricians, pediatric residents, and others involved in the care of young patients, delivering the information you need in a concise, easy-to-use format for everyday reference and study. Features a user-friendly format with short chapters and subchapters that allow you to quickly find the information you need. Includes more than 60 new chapters on topics covering the impact of social factors on children’s health, the impact of genetic discoveries on understanding diagnosing and treating childhood diseases, updating of current evidenced based diagnostic and therapeutic approaches to childhood diseases, and more. Offers new and expanded information on gene therapy; interferonopathies; reactive infectious mucocutaneous eruption (RIME); e-cigarette or vaping use-associated lung injury (EVALI); monkeypox; food protein-induced enterocolitis syndrome (FPIES); signaling pathway disorders; ciliopathies; very early onset inflammatory bowel disease; Epstein-Barr virus susceptibility disorders; marijuana smoke exposure; and much more. Features hundreds of new figures and tables throughout for visual clarity and quick reference, real-time videos, and regular updates online, written exclusively for Nelson. Provides fresh perspectives from two new associate editors: Abigail M. Schuh and Cara L. Mack, both of Medical College of Wisconsin. Remains your indispensable source for definitive, evidence-based answers on every aspect of pediatric care. Any additional digital ancillary content may publish up to 6 weeks following the publication date.

This issue of Infectious Disease Clinics of North America, Guest Edited by Mary Anne Jackson, MD and Angela Myers, MD, is Part II of a 2-part issue devoted to Pediatric Infectious Diseases. Drs. Jackson and Myers have assembled a group of expert authors to review the following topics: Measles 50 Years After Initiation of MMR Vaccine; Pertussis in the Era of New Strains; Promoting Vaccine Confidence; The Changing Epidemiology of Meningococcal Infection; Prevention of Influenza in Children; Rabies - Rare Human Infection, Common Questions; The Expanded Impact of Human Papillomavirus Vaccine; The Challenge of Global Poliomyelitis Eradication; The Eradication of Pediatric Rotavirus Infection; Approach to Immunization for the Traveling Child; and Status of Pneumococcal Infection in the US in the conjugate vaccine era.