Brett J. Bordini – författare

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.

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.

Patients don’t present with a disease; they present with symptoms. Using a practical, symptom-based organization, Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics, 2nd Edition, offers authoritative guidance on differential diagnosis and treatment of diseases and disorders in children and adolescents, and covers the symptoms you’re likely to see in practice, their mimics, and uncommon disorders. Drs. Robert M. Kliegman, Heather Toth, Brett J. Bordini, and Donald Basel walk you through what to consider and how to proceed when faced with common symptoms such as cough, fever, headache, autistic-like behaviors, chronic pain, chest pain, gait disturbances, and much more.

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.