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Beschreibung
This textbook uses a case-study approach to present the core principles of biochemistry and molecular biology in the context of human disease to students who will be involved in patient care. The 29 clinical cases have been carefully selected to cover key scientific concepts and some common, and other not so common, diseases. While the principal focus is on topics relating to metabolic disease, further subjects such as connective tissue disorders, neurological disorders, auto-inflammatory disorders, infective diseases, and cancer are also addressed. Each chapter provides a specific patient report that includes the natural history, pertinent clinical laboratory data, physical findings, subsequent diagnosis, and therapy. This is followed by a comprehensive discussion of the normal biochemical processes and reactions pertaining to the case, along with the pathophysiological mechanisms of the disease. Graphical diagrams are provided in each chapter for ease of comprehension.
This textbook uses a case-study approach to present the core principles of biochemistry and molecular biology in the context of human disease to students who will be involved in patient care. The 29 clinical cases have been carefully selected to cover key scientific concepts and some common, and other not so common, diseases. While the principal focus is on topics relating to metabolic disease, further subjects such as connective tissue disorders, neurological disorders, auto-inflammatory disorders, infective diseases, and cancer are also addressed. Each chapter provides a specific patient report that includes the natural history, pertinent clinical laboratory data, physical findings, subsequent diagnosis, and therapy. This is followed by a comprehensive discussion of the normal biochemical processes and reactions pertaining to the case, along with the pathophysiological mechanisms of the disease. Graphical diagrams are provided in each chapter for ease of comprehension.
Über den Autor
Toshitaka Oohashi, Ph.D., Professor of Department of Molecular Biology and Biochemistry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan
Hirokazu Tsukahara, M.D., Ph.D., Professor of Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan
Francesco Ramirez, Ph.D., Professor of Department of Pharmacology and Systems Therapeutics, Mount Sinai School of Medicine, New York, NY 10029, USA
Chad Barber, Ph.D., Assistant Professor of Biology: California Lutheran University, Thousand Oaks, CA 91360, USA
Fumio Otsuka, M.D., Ph.D., Professor of Department of General Medicine, Okayama University Graduate School of Medicine,
Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan
Zusammenfassung
Examines numerous clinical cases to aid the study of diagnosis, therapy and basic biochemical mechanisms
Emphasizes the role and importance of 'bench-to-bedside' training of health care professionals.
Fully illustrated and presented as a step-by-step guide to enhance the readers' learning experience
Inhaltsverzeichnis
Part1. Metabolic Disorders.- 1. Citrin Deficiency.- 2. Aspartoacylase Deficiency (Canavan Disease, N-Acetylaspartic Aciduria).- 3. Prominent Insulin Resistance in Congenital Generalized Lipoatrophy.- 4. Fabry Disease.- 5. Familial Hypercholesterolemia.- 6. Gaucher Disease.- 7. Heme Oxygenase-1 Deficiency.- 8. The Homocystinurias.- 9. Hypophosphatasia.- 10. Phenylketonuria.- 11. Triglyceride Deposit Cardiomyovasculopathy.- 12. Urea Cycle Disorders.- 13. Wilson Disease.- Part2. Genetics.- 14. Achondroplasia.- 15. Acute Myeloid Leukemia: Mutations Blocking Differentiation Lead to Distinct Leukemic Subtypes.- 16. ¿1-Antitrypsin Deficiency.- 17. Hereditary Anticoagulant Deficiencies.- 18. Cherubism.- 19. Cancer and Excess Iron.- 20. Fukuyama Congenital Muscular Dystrophy and Related Diseases.- 21. Hereditary Proteinuric Glomerular Disorders.- 22. Marfan Syndrome.- 23. When Materials Are at Fault: The Skeletal Collagens, Osteogenesis Imperfecta and Chondrodysplasias.- Part3. Others.- 24. Acute Kidney Injury: Transition to Chronic Kidney Disease.- 25. Type I Interferonopathies: Common Pathological Features Between Congenital Infections and Genetic Disorders.- 26. Epilepsy.- 27. Hemophagocytic Lymphohistiocytosis.- 28. Hepatitis C Virus Infection.- 29. Substance Abuse Emergencies.
Details
| Erscheinungsjahr: | 2019 |
|---|---|
| Fachbereich: | Therapie |
| Genre: | Importe, Medizin |
| Rubrik: | Wissenschaften |
| Medium: | Buch |
| Inhalt: |
xi
349 S. 54 s/w Illustr. 113 farbige Illustr. 349 p. 167 illus. 113 illus. in color. |
| ISBN-13: | 9789811329760 |
| ISBN-10: | 9811329761 |
| Sprache: | Englisch |
| Herstellernummer: | 978-981-13-2976-0 |
| Ausstattung / Beilage: | HC runder Rücken kaschiert |
| Einband: | Gebunden |
| Redaktion: |
Oohashi, Toshitaka
Tsukahara, Hirokazu Otsuka, Fumio Barber, Chad L. Ramirez, Francesco |
| Herausgeber: | Toshitaka Oohashi/Hirokazu Tsukahara/Francesco Ramirez et al |
| Auflage: | 1st ed. 2019 |
| Hersteller: |
Springer Singapore
Springer Nature Singapore |
| Verantwortliche Person für die EU: | Books on Demand GmbH, In de Tarpen 42 In de Tarpen 42, D-22848 Norderstedt, info@bod.de |
| Maße: | 260 x 183 x 24 mm |
| Von/Mit: | Toshitaka Oohashi (u. a.) |
| Erscheinungsdatum: | 25.03.2019 |
| Gewicht: | 0,963 kg |
Über den Autor
Toshitaka Oohashi, Ph.D., Professor of Department of Molecular Biology and Biochemistry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan
Hirokazu Tsukahara, M.D., Ph.D., Professor of Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan
Francesco Ramirez, Ph.D., Professor of Department of Pharmacology and Systems Therapeutics, Mount Sinai School of Medicine, New York, NY 10029, USA
Chad Barber, Ph.D., Assistant Professor of Biology: California Lutheran University, Thousand Oaks, CA 91360, USA
Fumio Otsuka, M.D., Ph.D., Professor of Department of General Medicine, Okayama University Graduate School of Medicine,
Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan
Zusammenfassung
Examines numerous clinical cases to aid the study of diagnosis, therapy and basic biochemical mechanisms
Emphasizes the role and importance of 'bench-to-bedside' training of health care professionals.
Fully illustrated and presented as a step-by-step guide to enhance the readers' learning experience
Inhaltsverzeichnis
Part1. Metabolic Disorders.- 1. Citrin Deficiency.- 2. Aspartoacylase Deficiency (Canavan Disease, N-Acetylaspartic Aciduria).- 3. Prominent Insulin Resistance in Congenital Generalized Lipoatrophy.- 4. Fabry Disease.- 5. Familial Hypercholesterolemia.- 6. Gaucher Disease.- 7. Heme Oxygenase-1 Deficiency.- 8. The Homocystinurias.- 9. Hypophosphatasia.- 10. Phenylketonuria.- 11. Triglyceride Deposit Cardiomyovasculopathy.- 12. Urea Cycle Disorders.- 13. Wilson Disease.- Part2. Genetics.- 14. Achondroplasia.- 15. Acute Myeloid Leukemia: Mutations Blocking Differentiation Lead to Distinct Leukemic Subtypes.- 16. ¿1-Antitrypsin Deficiency.- 17. Hereditary Anticoagulant Deficiencies.- 18. Cherubism.- 19. Cancer and Excess Iron.- 20. Fukuyama Congenital Muscular Dystrophy and Related Diseases.- 21. Hereditary Proteinuric Glomerular Disorders.- 22. Marfan Syndrome.- 23. When Materials Are at Fault: The Skeletal Collagens, Osteogenesis Imperfecta and Chondrodysplasias.- Part3. Others.- 24. Acute Kidney Injury: Transition to Chronic Kidney Disease.- 25. Type I Interferonopathies: Common Pathological Features Between Congenital Infections and Genetic Disorders.- 26. Epilepsy.- 27. Hemophagocytic Lymphohistiocytosis.- 28. Hepatitis C Virus Infection.- 29. Substance Abuse Emergencies.
Details
| Erscheinungsjahr: | 2019 |
|---|---|
| Fachbereich: | Therapie |
| Genre: | Importe, Medizin |
| Rubrik: | Wissenschaften |
| Medium: | Buch |
| Inhalt: |
xi
349 S. 54 s/w Illustr. 113 farbige Illustr. 349 p. 167 illus. 113 illus. in color. |
| ISBN-13: | 9789811329760 |
| ISBN-10: | 9811329761 |
| Sprache: | Englisch |
| Herstellernummer: | 978-981-13-2976-0 |
| Ausstattung / Beilage: | HC runder Rücken kaschiert |
| Einband: | Gebunden |
| Redaktion: |
Oohashi, Toshitaka
Tsukahara, Hirokazu Otsuka, Fumio Barber, Chad L. Ramirez, Francesco |
| Herausgeber: | Toshitaka Oohashi/Hirokazu Tsukahara/Francesco Ramirez et al |
| Auflage: | 1st ed. 2019 |
| Hersteller: |
Springer Singapore
Springer Nature Singapore |
| Verantwortliche Person für die EU: | Books on Demand GmbH, In de Tarpen 42 In de Tarpen 42, D-22848 Norderstedt, info@bod.de |
| Maße: | 260 x 183 x 24 mm |
| Von/Mit: | Toshitaka Oohashi (u. a.) |
| Erscheinungsdatum: | 25.03.2019 |
| Gewicht: | 0,963 kg |
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