Neurofibromatosis Type 1: Diagnosis, Prevalence and Quality of Life e-bog
802,25 DKK
(inkl. moms 1002,81 DKK)
This monograph includes five chapters about neurofibromatosis type 1 (NF1), a condition characterized by changes in skin coloring and the growth of tumors along nerves in the skin, brain, and other parts of the body. Chapter One concerns the evolving molecular biology, targeted therapeutics, and neurocognitive deficits in neurofibromatosis type one. Chapter Two focuses on gastrointestinal strom...
E-bog
802,25 DKK
Forlag
Nova Medicine and Health
Udgivet
10 maj 2021
Længde
132 sider
Genrer
Dermatology
Sprog
English
Format
pdf
Beskyttelse
LCP
ISBN
9781536196757
This monograph includes five chapters about neurofibromatosis type 1 (NF1), a condition characterized by changes in skin coloring and the growth of tumors along nerves in the skin, brain, and other parts of the body. Chapter One concerns the evolving molecular biology, targeted therapeutics, and neurocognitive deficits in neurofibromatosis type one. Chapter Two focuses on gastrointestinal stromal tumors and reviews the clinicopathologic features of these tumors and discusses differential diagnostic considerations. Chapter Three explores juvenile myelomonocytic leukemia, a rare hematological malignancy of the pediatric population, and its association with NF1 and distinguishing features in this context. Chapter Four reviews molecular approaches for the diagnosis of NF1, from single-gene testing to next-generation sequencing of gene panels, with a focus on the issues of sensitivity and variant interpretations. Finally, Chapter Five focuses attention on focal cortical dysplasia that has been identified in the population of NF1 patients that have had coexistent hippocampal sclerosis.