Adolescent Undiagnosed and Rare Diseases, An Issue of Medical Clinics of North America

1st Edition, Volume 108-1 - November 14, 2023
Editors: Heather Toth, Robert M. Kliegman, Brett J. Bordini
Language: English
Hardback ISBN:
9 7 8 - 0 - 4 4 3 - 1 3 0 7 9 - 3
eBook ISBN:
9 7 8 - 0 - 4 4 3 - 1 3 0 8 0 - 9

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 Adoles… Read more

Adolescent Undiagnosed and Rare Diseases, An Issue of Medical Clinics of North America

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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.

Cover image
Title page
Table of Contents
Copyright
CME Accreditation Page
Forthcoming Issues
Contributors
Foreword
Preface
Attaining Diagnostic Excellence: How the Structure and Function of a Rare Disease Service Contribute to Ending the Diagnostic Odyssey
Key points
A framework for successful rare disease evaluation teams
Clinics care points
Disclosure
Monogenetic Etiologies of Diabetes
Key points
Background
Case
Beta cell physiology
The maturity onset diabetes of the young types
Maturity onset diabetes of the young 1 – hepatic nuclear factor-4 alpha
Maturity onset diabetes of the young 2 – glucokinase
Maturity onset diabetes of the young 3 – hepatic nuclear factor 1 alpha
Maturity onset diabetes of the young 4 – pancreas/duodenum homeobox protein 1
Maturity onset diabetes of the young 5 – hepatic nuclear factor 1 β
Maturity onset diabetes of the young 6 – neurogenic differentiation factor 1
Maturity onset diabetes of the young 7 – Krueppel-like factor 11
Maturity onset diabetes of the young 8 – carboxyl ester lipase
Maturity onset diabetes of the young 9 – pared box 4
Maturity onset diabetes of the young 10 – insulin
Maturity onset diabetes of the young 11 – B-lymphocyte kinase (BLK)
Maturity onset diabetes of the young 12 – ATP-binding cassette subfamily C member 8 (ABCC8)
Maturity onset diabetes of the young 13 – potassium inwardly rectifying channel subfamily J member 11 (KCNJ11)
Maturity onset diabetes of the young 14 – adaptor protein, phosphotyrosine interaction, PH domain, and leucine zipper containing 1
Clinics care points
Disclosure
Non-syndromic and Syndromic Severe Acne in Adolescent Patients
Key points
Introduction
Non-syndromic severe acne
Syndromic severe acne: autoinflammatory
Syndromic severe acne: androgen-excess states
Drug-induced acne
Summary
Clinics care points
Unusual Presentations of Systemic Lupus Erythematosus
Key points
Hematologic manifestations
Dermatologic manifestations
Central nervous system manifestations
Gastrointestinal manifestations
Ophthalmologic manifestations
Pulmonary manifestations
Summary
Clinics care points
Disclosure
Adolescent Onset of Acute Heart Failure
Key points
Introduction
Myocarditis
Dilated cardiomyopathy
Hypertrophic cardiomyopathy
Left ventricular noncompaction
Restrictive cardiomyopathy
Arrhythmogenic ventricular cardiomyopathy
Cardio-Renal Interaction
Structural heart disease
Fever of Unknown Origin
Key points
Introduction
Approach
Evaluation
Outcomes
Future Directions
Discussion
Summary
Clinics care points
Disclosure
Acquired Demyelinating Syndromes
Key points
Introduction
Discussion
Future directions - novel biomarkers
Summary
Clinics Care Points
Disclosure
Common Variable Immunodeficiency
Key points
Introduction
Definitions
Background
Discussion
Noninfectious complications of common variable immunodeficiency
Summary
Clinics care points
Disclosure
Approach to Idiopathic Anaphylaxis in Adolescents
Key points
Introduction
Summary
Disclosure
Monogenic Etiology of Hypertension
Key points
Introduction
Common and less common causes of hypertension in adolescents
Evaluation for more likely causes of hypertension
Monogenic causes of hypertension
Summary
Clinics care points
Author contributions
Conflict of interest statement
Adolescent Onset of Muscle Weakness
Key points
Introduction
Discussion
Inflammatory/immune
Summary
Clinics care points
Disclosure
Hemophagocytic Lymphohistiocytosis in Adolescents and Young Adults: Genetic Predisposition and Secondary Disease
Key points
Introduction
Patient presentation
Clinical criteria defining hemophagocytic lymphohistiocytosis
Etiologies driving hemophagocytic lymphohistiocytosis in adolescents and young adults
Treatment
Patient diagnosis and management (continued)
Summary
Clinics care points
Disclosure
Severe, Refractory Seizures: New-Onset Refractory Status Epilepticus and Febrile Infection-Related Epilepsy Syndrome
Key points
Introduction
Defining new-onset refractory status epilepticus and febrile infection-related epilepsy syndrome
Pathophysiology
Recognizing new-onset refractory status epilepticus and febrile infection-related epilepsy syndrome
Differential diagnosis
Acute treatment
Chronic treatment
Prognosis
Summary
Clinics care points
Disclosure
Later Onset Congenital Central Hypoventilation Syndrome
Key points
Introduction
Case presentation
Discussion
Summary
Clinics care points
Disclosure
Chronic Recurrent Multifocal Osteomyelitis
Key points
Introduction
Future directions
Summary
Clinics care points
Disclosure

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Adolescent Undiagnosed and Rare Diseases, An Issue of Medical Clinics of North America

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Heather Toth

Brett J. Bordini