Author: Centro de Estudos de Paramiloidose
Publisher:
ISBN:
Category :
Languages : en
Pages :

Get Book Here

Book Description

Author: Charles R. Scriver
Publisher: New York ; Montreal : McGraw-Hill
ISBN: 9780071363198
Category : Genetic disorders
Languages : en
Pages : 6338

Get Book Here

Book Description
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Author: V. Planté-Bordeneuve
Publisher: Elsevier Inc. Chapters
ISBN: 0128078693
Category : Medical
Languages : en
Pages : 39

Get Book Here

Book Description
TTR FAP is characterized by phenotypic and genotypic heterogeneity. The severity of polyneuropathy along with autonomic dysfunction and heart involvement makes it a life-threatening disease. This protein is mainly produced by the liver. Molecular genetic testing is essential in the diagnostic strategy. TTR-Val30Met is the most frequent substitution, resulting in a guanine to cytosine mutation in exon 2 of the gene. It is virtually the only variant detected in Portugal, Brazil, and Sweden. By contrast, as many as 30 different TTR variants are reported in Japan and in other European countries. A less severe phenotype with late onset has been reported. Diagnosis should be performed as early as possible since upcoming pharmacological therapeutic approaches are now available, in addition to liver transplantation.

Author: Maria M. Picken
Publisher: Humana Press
ISBN: 3319192949
Category : Medical
Languages : en
Pages : 536

Get Book Here

Book Description
The second edition of this text presents an overview of the most recent developments in this area including clinical presentation, etiology, pathogenesis, and differential diagnosis. The rationale for various therapies, including transplantation, is discussed and tissue diagnosis (its pitfalls and strategies for avoiding them) and laboratory support are included. The involvement of all major organ systems including renal/genitourinary, cardiac, gastrointestinal, pulmonary, peripheral nerve/central nervous system, soft tissue, skin, lymph node/spleen and bone marrow pathology is also covered. Amyloid and Related Disorders, Second Edition will be invaluable to specialized and general pathologists as well as cytopathologists. Other medical professionals may also benefit from this concise update on the systemic amyloidoses.

Author: International Symposium on Familial Amyloidotic Polyneuropathy and Other TTR Related Disorders (3, 1995, Lisboa)
Publisher:
ISBN:
Category :
Languages : en
Pages : 94

Get Book Here

Book Description

Author: Giuseppe Orlando
Publisher: Academic Press
ISBN: 012398520X
Category : Science
Languages : en
Pages : 1050

Get Book Here

Book Description
Regenerative Medicine Applications in Organ Transplantation illustrates exactly how these two fields are coming together and can benefit one another. It discusses technologies being developed, methods being implemented, and which of these are the most promising. The text encompasses tissue engineering, biomaterial sciences, stem cell biology, and developmental biology, all from a transplant perspective. Organ systems considered include liver, renal, intestinal, pancreatic, and more. Leaders from both fields have contributed chapters, clearly illustrating that regenerative medicine and solid organ transplantation speak the same language and that both aim for similar medical outcomes. The overall theme of the book is to provide insight into the synergy between organ transplantation and regenerative medicine. Recent groundbreaking achievements in regenerative medicine have received unprecedented coverage by the media, fueling interest and enthusiasm in transplant clinicians and researchers. Regenerative medicine is changing the premise of solid organ transplantation, requiring transplantation investigators to become familiar with regenerative medicine investigations that can be extremely relevant to their work. Similarly, regenerative medicine investigators need to be aware of the needs of the transplant field to bring these two fields together for greater results. Bridges the gap between regenerative medicine and solid organ transplantation and highlights reasons for collaboration Explains the importance and future potential of regenerative medicine to the transplant community Illustrates to regenerative medicine investigators the needs of the transplant discipline to drive and guide investigations in the most promising directions

Author: David B. Vodusek
Publisher: Elsevier
ISBN: 0444632549
Category : Medical
Languages : en
Pages : 518

Get Book Here

Book Description
The neurology of sex and bladder disorders requires specialized knowledge and represents a challenge for clinical neurologists focused on the neurological condition. Sex and bladder disorders are often related to more general neurological disorders like Parkinson’s disease and multiple sclerosis, and often the sex and bladder disorders are passed to specialists in urology. Neurology of Sexual and Bladder Disorders: Handbook of Clinical Neurology is a focused, yet comprehensive overview that provides complete tutorial reference to the science, diagnosis and treatment of sex and bladder disorders from a neurologic perspective. Comprehensive coverage of the neurology of sex and bladder disorders Details the latest techniques for the study, diagnosis and treatment of sex and bladder dysfunction from a neurological perspective A focused reference for clinical practitioners and neurology research communities

Author: Petros Efthimiou
Publisher: Springer
ISBN: 3319969293
Category : Medical
Languages : en
Pages : 322

Get Book Here

Book Description
This book provides an overview of auto-inflammatory syndromes, covering the underlying immune mechanisms that lead to their development, specific disease presentations, and clinical treatment guidelines. The book is divided into two sections, adult and pediatric, with chapters focusing on individuals diseases such as systemic arthritis, hyper-IgD, pap syndrome, idiopathic recurrent pericarditis, and familial Mediterranean fever. Chapters incorporate the most recent advances in disease pathophysiology and examine the underlying inductive and effector mechanisms and therapies that relate to each auto-inflammatory disorder at the genetic, molecular, cellular, and epidemiologic levels. The book also discusses the research behind auto-inflammatory disorders to offer detailed clinical guidelines regarding diagnostic techniques, treatment plans, and advice on how to best transition pediatric patients into adult treatment. This is an invaluable reference on auto-inflammatory syndromes for clinicians and researchers in pediatric and adult rheumatology and immunology.

Author: Jens Kurreck
Publisher: Royal Society of Chemistry
ISBN: 0854041168
Category : Medical
Languages : en
Pages : 362

Get Book Here

Book Description
This book provides a compelling overall update on current status of RNA interference

Author: Myron Yanoff
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 792

Get Book Here

Book Description
The new, 5th Edition of the premier ocular pathology resource offers the latest information in the field. Over 2095 illustrations *1800 in full color* from the authors' collections represent one of the finest compilations of rare and unusual ocular conditions available. Comprehensive, yet concise, it explores new topics such as complications of corneal surgery, vascular disorders, secondary cataracts, bone-marrow transplant retinopathy, neural retinal detachment, ocular melanotic tumors, and more. Plus, a companion CD-ROM and text/CD-ROM package are available! Explores new topics such as complications of corneal surgery, vascular disorders, secondary cataracts, bone-marrow transplant retinopathy, neural retinal detachment, and ocular melanotic tumors (including diabetes). Offers expanded coverage of entities such as chromosome 17 deletion syndrome, necrobiotic xanthogranuloma, climatic protoglycan stromal keratopathy, unilateral acute idiopathic maculopathy, acute mutifocal retinitis, idiopathic polypoidal choroidal vasculopathy, North Carolina macular dystrophy, familial internal limiting membrane dystrophy, clumped pigmentary retinal dystrophy (clumped pigmentary retinal degeneration), vasoproliferative retinal tumors, Schwartz's syndrome, familial amyloidotic polyneuropathy, familial atypical mole and melanoma (FAM-M) syndrome, and more! Features specific genetic profiles for many existing entities.