Open access peer-reviewed Edited Volume

The Tuberous Sclerosis Complex

Scott Turner

Saint Luke's Health System

Dr. Turner received his medical degree from the Medical College of Wisconsin. He completed a neurology residency at the State University of New York in Stony Brook and a neuro-oncology fellowship at Duke University. He specializes in the treatment of primary and metastatic tumors of the brain and spine. Dr. Turner's undergraduate and master's degree in molecular biology and biochemistry is critical in understanding the complex mechanisms involved with tumor biology.

Covering

Hypomelanotic Macules Shagreen Patches Cardiac Rhabdomyoma Pulmonary Lymphangioleiomyomatosis Renal Angiomyolipoma Genetic Testing Hamartin Tuberin Tubers Subependymal Nodule Subependymal Giant Cell Astrocytoma Rapamycin

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About the book

The Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder occurring in about 10 in 100,000 individuals. This disorder was first described in the nineteenth century and affects cellular differentiation in the skin, heart, lungs, kidneys, central nervous system, and elsewhere. The cutaneous manifestations are not pathognomonic but are present in over 90 percent of patients and include hypomelanotic macules, shagreen patches and fibromas. Cardiac rhabdomyoma, pulmonary lymphangioleiomyomatosis and renal angiomyolipoma as well as neurologic manifestations are associated with TSC. Cortical hamartomas, subependymal nodules, and subependymal giant cell astrocytomas (SEGA) are commonly observed.


TSC involves mutations in chromosomes 9 and 16 encoding for the proteins hamartin and tuberin, respectively. Mutations in these genes cause upregulation of the mTOR pathway and inhibitors of this pathway, such as rapamycin and everolimus, have been shown to be effective in controlling the growth of unresectable tumors. Due to involvement of multiple organ systems, a multidisciplinary treatment plan is necessary and genetic counseling is often part of the management of TSC. Treatment options are quite variable and depended upon symptoms and organ involvement.

The aim of this book is to provide the reader with an overview of the tuberous sclerosis complex including its genetic causes, clinical manifestations, and management of its most serious signs and symptoms.

Publishing process

Book initiated and editor appointed

Date completed: July 2nd 2020

Applications to edit the book are assessed and a suitable editor is selected, at which point the process begins.

Chapter proposals submitted and reviewed

Deadline Extended: Open for Submissions

Potential authors submit chapter proposals ready for review by the academic editor and our publishing review team.

Approved chapters written in full and submitted

Deadline for full chapters: September 21st 2020

Once approved by the academic editor and publishing review team, chapters are written and submitted according to pre-agreed parameters

Full chapters peer reviewed

Review results due: December 10th 2020

Full chapter manuscripts are screened for plagiarism and undergo a Main Editor Peer Review. Results are sent to authors within 30 days of submission, with suggestions for rounds of revisions.

Book compiled, published and promoted

Expected publication date: February 8th 2021

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About the editor

Scott Turner

Saint Luke's Health System

Dr. Turner received his medical degree from Medical College of Wisconsin. He completed a neurology residency at State University of New York in Stony Brook and neuro-oncology fellowship at Duke University. He specializes in the treatment of primary and metastatic tumors of the brain and spine. Dr. Turner's undergraduate and master's degree in molecular biology and biochemistry is critical in understanding the complex mechanisms involved with tumor biology. He utilizes a multimodal treatment approach, integrating clinical trials with chemo and radiation therapy, intrathecal chemotherapy, and stereotactic radiosurgery.

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Book chapters authored 3

Books edited 0

Introducing your Author Service Manager

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