Rare Diseases: Diagnoses, Challenges and Developing Treatments

Giorgio Di Giovanni (Editor)
Pietro Marcoz (Editor)

Series: Public Health in the 21st Century
BISAC: MED022000



Volume 10

Issue 1

Volume 2

Volume 3

Special issue: Resilience in breaking the cycle of children’s environmental health disparities
Edited by I Leslie Rubin, Robert J Geller, Abby Mutic, Benjamin A Gitterman, Nathan Mutic, Wayne Garfinkel, Claire D Coles, Kurt Martinuzzi, and Joav Merrick


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A rare disease is any disease that affects a small percentage of the population. Rare diseases can vary in prevalence between populations, so a disease that is rare in some populations may be common in others. This is especially true of genetic diseases and infectious diseases. In this book, the authors present current research on the diagnoses, challenges and developing treatments for rare diseases, from researchers across the globe.

Topics discussed include commotio cordis, also known as cardiac concussion with described cases of ventricular fibrillation and sudden death from cardiac arrest; the clinical manifestations and pathophysiology of muscle-specific kinase (MuSK) myasthenia gravis (MG); neurological complications of histiocytosis; nail-patella syndrome; management of cardiac angiosarcoma; diagnosis and treatment of clear cell adenocarcinoma of the bladder; eosinophilic pancreatitis; non-traumatic splenic rupture; and alkaptonuria (AKU). (Imprint: Nova Biomedical )


Commotio Cordis: A Rare Catastrophic Mechano-Electric Coupling
(Na Zheng, Ming Dong, Jie Liu, Department of Pathophysiology, Shenzhen University School of Medicine, Guangdong, China)

How to Develop a Comprehensive and Cross-Disease Approach to Improve Patients' Illness Experience and Meet Public Policy Makers' Expectations
(Caroline Huyard, Centre D'études et de Recherches Administratives, Politiques et Sociales (Ceraps), Université Lille 2, Lille, France)

MuSK Myasthenia - A Rare Variant of a Rare Disease: A Case Description and Review of the Medical Literature
(Michal Haran, Andras Mate, Daniel Starobin, Gregory Papirov, Ami Schattner, Hematology Institute, Kaplan Medical Center, Rehovot, Israel, and others)

Main Forms and Neurological Complications of Histiocytosis
(Eva Viragh, Csaba B. Nagy, Zoltan Locsei, Csaba Toth, Ferenc Garzuly, Bernadette Kalman, Department of Medicine, Radiology and Pathology, and Center for Research and Education, Markusovszky University Hospital, Szombathely, Hungary)

Nail-Patella Syndrome
(Sertac Cimen, Sanem Guler, Ryan Kelly, Frank MacDonald, Michele Molinari, Department of Surgery, Dalhousie University, Halifax, Nova Scotia, Canada)

Cardiac Angiosarcoma
(Angela Lamarca, Medical Oncology Department, The Christie NHS Foundation Trust; Manchester, UK)

Clear Cell Adenocarcinoma of fhe Bladder: Diagnosis and Management
(Ji Lu, Zhihui Xu, Chunxi Wang, Department of Urology, The First Hospital of Jilin University, Changchun, China, and others)

Eosinophilic Pancreatitis
(Sanem Guler, Sertac Cimen, Frank MacDonald, Scott Hurton, Michele Molinari, Dalhousie University, Department of Surgery, Victoria General Hospital, Halifax, Nova Scotia, Canada)

Non-Traumatic Splenic Rupture: An Enigma in Emergency
(Jitendra Kumar Kushwaha, Abhinav Arun Sonkar, Akshay Anand, Suyash Singh, Department of Surgery, King George’s Medical University, Lucknow, UP, India)

DevelopAKUre: Curing the World’s First Genetic Disease
(Oliver Timmis, Head of Projects, AKU Society)


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