This book covers the latest research on male infertility. The topics discussed range from understanding the genetic basis of infertility, to its causes and treatment. Since infertility is also of great interest to the general public, the book also includes a detailed description of what infertility is and how one can understand the different types. Given the complex etiology of infertility, the book includes a number of chapters defining the known and probable causes of male infertility. Providing detailed information suitable for patients and clinicians alike, it also features a separate section on treatment, the ultimate goal.
This revised, expanded second edition updates the reader on this fast moving field as well providing an overall understanding of the genetics of complex diseases by using stroke as a paradigm. The reader will gain a comprehensive understanding of cerebrovascular genetics including the epidemiological evidence for the genetic basis of ischemic and hemorrhagic stroke, knowledge of its molecular basis from association, linkage and recent genomewide studies, and also monogenic disorders. Finally, the legal and ethical complexities in dealing with these issues are discussed.
Stroke Genetics is a valuable resource for neurologists, stroke physicians, hypertension specialists, internists, clinical pharmacologists and those in training, as well as researchers in the field of disease genetics.
This book focuses on the salient features of the biology of Bone Morphogenetic Proteins and the advances in our understanding of their structure and function and of downstream signaling, as well as their governance in systems biology from bone and dentin to kidney, cancer, diabetes, iron homeostasis and angiogenesis, including rare musculoskeletal disorders. BMPs, also referred to as growth and differentiation factors, are members of the TGF-beta superfamily and are highly conserved from fruit flies to mammals and are responsible for the formation of practically every organ during embryo development and involved in adult tissue injury and repair. BMPs establish their extracellular gradient by interacting with their respective antagonists and regulate their function through SMAD-dependent down-stream signaling effector genes.
This volume is aimed at scientists and professionals dealing with metabolic disorders, nutrition, systems biology diseases, rare musculoskeletal conditions, and disorders related to iron metabolism, including anemia of chronic disease, hereditary hemochromatosis and beta thalassemia.
This book reviews the molecular genetics of the thalassemia syndromes, inherited hemoglobin disorders that comprise the commonest monogenic disorders globally. Thalassemias are found in high frequencies in tropical regions corresponding to the malaria belt. Beta thalassemia traits show high HbA2 by HPLC, and ?-globin mutations (commonly point mutations) are detected by using ARMS-PCR, reverse dot-blot analysis and ?-globin gene sequencing. Globally >300 ? globin gene mutations exist, however regional mutations are limited to 5-6 common ones. Alpha globin gene defects can only be identified by molecular tests, the exception being HbH disease that shows “golf ball” appearance in HbH preparation, pre-integration peaks on HPLC and a fast-moving band on hemoglobin electrophoresis. Multiplex Gap-PCR identifies common ?-globin gene deletions. Specific PCR across the junction caused by the unequal crossing over can detect ?-gene triplication. However, heterozygosity or homozygous triplication cannot be resolved by this technique. Non-deletional ?-thalassemia can be characterized by specific ?-globin gene sequencing. Identification of unusual deletions requires Multiplex Ligation-dependent Probe Amplification. In conclusion, the molecular characterization of human globin gene disorders is required to resolve the phenotypically heterogeneous thalassemia syndromes. Molecular analysis is also an important tool to prevent these disorders by offering prenatal screening in regions with a high disease burden.
This valuable new book offers a new perspective on dendrimers that bridges the gap between basic research and applied nanomedicine. It explores the ultimate effectiveness of dendrimers in theranostics, a promising field that combines therapeutics and diagnostics into single multifunctional formulations used to affect therapy or treatment of a disease state. The authors examine the potential uses of dendrimers, which have proven their capabilities in local/systemic drug delivery, physical stabilization of the drug, solubility enhancement of the poorly soluble drugs, and gene delivery.
Experts in otorhinolaryngology as well as medical genetics have contributed their reviews to this comprehensive compilation. Introductory chapters deal with basic genetics followed by chapters devoted to specific disorders. The gamut of otorhinolaryngological diseases from both adult and pediatric practice is covered. Included are common disorders such as hearing loss, cleft lip and palate, and thyroid cancers as well as further chapters on rare disorders such as Usher syndrome, neurofibromatosis type 2 and paraganglioma. Also, emerging fields of genetic investigation including otitis media, chronic rhinosinusitis and gene therapy are discussed. The contributions focus on diagnosis and management, as well as practical issues like how to order genetic testing or refer to a medical geneticist or genetic counselor. This publication will serve as an educational and reference text for both adult and pediatric otorhinolaryngologists, as well as medical geneticists and genetic counselors. It will provide readers with an understanding of the current state of genetic disorders seen in ORL practice, allow for accurate diagnosis, and improve patient management.