Rare Disease

Master innovative trial designs, patient recruitment, and regulatory strategies in rare disease research.

Taylor Kane was a daddy's girl from the moment she was born, smiling and cooing whenever her father was around and refusing to sleep until he held her in his arms. But shortly after she turned three years old, the unthinkable happened. Her father was diagnosed with a rare, genetic disease for which there was no cure. It wasn't long before he began to experience a number of bizarre and frightening symptoms, and young Taylor watched helplessly as the disease ravaged his body and mind, transforming him into a shell of the father she once knew: a man unable to walk, talk, swallow or understand what was going on around him. A man who no longer recognized her.

This book is structured in three major parts and the first part is a comprehensive overview of IBD-related intestinal cancer. The second and third parts provide rare and important cases on ulcerative colitis (UD) and Crohn’s disease (CD) presenting the macroscopic image of the resected specimen and analyzing the endoscopic and the pathological image to explain how to find the IBD cancer. It also delivers a detailed analysis of the histological structure of cancers. This book tries to clarify the critical but yet to be answered questions such as “Why is it so difficult to find out?”, “Why so flat?” and “How to name superficial lesion with invisible margin?” and so on.

Urinary Tract Stone Disease covers the entire subject of urinary stone disease from basic sciences to medical and surgical treatment of stones. The surgical management of urinary stone disease has advanced significantly since the introduction of shock wave lithotripsy (SWL), percutaneous nephrolithotomy (PCNL), ureteroscopy (URS), and more recently retrograde intra-renal surgery (RIRS) with small, flexible fibre-optic ureteroscopes. As a result, “cutting for stones” has become a rare procedure. These minimally invasive techniques are now also used in the paediatric population with great safety and success. This book consists of 60 chapters divided into nine sections. The first three sections are devoted to basic sciences on subjects ranging from epidemiology of urinary calculi, to shock wave physics. The fourth section deals with diagnostic, laboratory, and research methods in the diagnosis and investigation of stones. Stone disease in children is dealt with in chapter five, followed by three sections on surgical management of stones. Finally, there is an entire section on medical management of stones. With highly illustrated diagrams, photographs, and X-ray images throughout, this book is an excellent reference for urologists, nephrologists and non-medical scientists.