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E-raamat: Handbook of Cystic Fibrosis

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  • Formaat: PDF+DRM
  • Sari: Medicine
  • Ilmumisaeg: 06-Oct-2016
  • Kirjastus: Springer International Publishing AG
  • Keel: eng
  • ISBN-13: 9783319325040
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Handbook of Cystic FibrosisSuurem pilt
  • Formaat: PDF+DRM
  • Sari: Medicine
  • Ilmumisaeg: 06-Oct-2016
  • Kirjastus: Springer International Publishing AG
  • Keel: eng
  • ISBN-13: 9783319325040
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This concise manual provides clinicians and other related health care professionals with an essential reference tool to the background of cystic fibrosis, and the management and treatment of this disease. The latest guidelines are reviewed and current and emerging treatments are discussed in the latter chapters. Cystic fibrosis is an inherited condition where a mutation in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) causes loss of function. The dysfunction of CFTR results in the production of thick mucus in the lungs and digestive tract, causing pulmonary and gastrointestinal manifestations. The incidence of cystic fibrosis in Europe and the US ranges between 1 in 2,000 and 1 in 25,000.

Introduction and epidemiology of cystic fibrosis.- Pathophysiology of cystic fibrosis.- Clinical features and complications of cystic fibrosis.- Diagnosis of cystic fibrosis.- Monitoring and evaluation of patients with cystic fibrosis.- Treatment of cystic fibrosis.
1 Introduction and Epidemiology of Cystic Fibrosis
1(4)
1.1 Introduction
1(1)
1.2 Epidemiology
2(3)
References
3(2)
2 Pathophysiology of Cystic Fibrosis
5(4)
2.1 CFTR Structure and Function
5(1)
2.2 CFTR Mutation Classes
6(1)
2.3 Relationship Between CFTR Mutations and Clinical Phenotype
7(2)
References
8(1)
3 Clinical Features and Complications of Cystic Fibrosis
9(34)
3.1 Pulmonary Disease and Complications
9(8)
3.1.1 Pathophysiology of Cystic Fibrosis Lung Disease
9(3)
3.1.2 Pulmonary Exacerbations
12(2)
3.1.3 Hemoptysis
14(1)
3.1.4 Pneumothorax
14(1)
3.1.5 Respiratory Failure
15(1)
3.1.6 Allergic Bronchopulmonary Aspergillosis
15(2)
3.1.7 Asthma in Patients with Cystic Fibrosis
17(1)
3.2 Upper Airway Disease
17(1)
3.3 Microbiology
18(5)
3.3.1 Microbiology in Early Life
18(1)
3.3.2 Staphylococcus aureus
19(1)
3.3.3 Pseudomonas aeruginosa
20(1)
3.3.4 Burkholderia cepacia Complex
21(1)
3.3.5 Other Cystic Fibrosis-Associated Microorganisms
22(1)
3.3.6 Nontuberculous Mycobacteria
22(1)
3.4 Gastrointestinal and Nutritional Disease
23(6)
3.4.1 Pancreatic Insufficiency
23(2)
3.4.2 Fat-Soluble Vitamin Deficiency
25(1)
3.4.3 Meconium Ileus
25(1)
3.4.4 Distal Intestinal Obstruction Syndrome
26(1)
3.4.5 Gastroesophageal Reflux Disease
27(1)
3.4.6 Recurrent Pancreatitis
27(1)
3.4.7 Rectal Prolapse
28(1)
3.4.8 Hepatobiliary Disease
28(1)
3.4.9 Other Gastrointestinal Complications of Cystic Fibrosis
29(1)
3.5 Endocrine Disease
29(1)
3.5.1 Cystic Fibrosis-Related Diabetes
29(1)
3.5.2 Bone Disease
30(1)
3.6 Urogenital Tract Disease
30(1)
3.7 Psychiatric Complications
31(1)
3.8 Other Conditions Associated with Cystic Fibrosis
32(11)
3.8.1 Hyponatremic Dehydration
32(1)
3.8.2 Drug Allergy
32(1)
3.8.3 Joint Disease
32(1)
3.8.4 Vasculitis
33(1)
3.8.5 Dermatologic Manifestations
33(1)
3.8.6 Nephrolithiasis
34(1)
References
34(9)
4 Diagnosis of Cystic Fibrosis
43(22)
4.1 Background and History
43(1)
4.2 The Sweat Test
43(2)
4.3 Genetic Testing
45(2)
4.4 Newborn Screening
47(8)
4.4.1 Newborn Screening Algorithms
47(2)
4.4.2 Benefits of Newborn Screening
49(1)
4.4.3 CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis
50(5)
4.5 CFTR-Related Disorder
55(1)
4.6 Other Diagnostic Tests of CFTR Function
55(3)
4.7 Patients with Clinical Features Suggestive of Cystic Fibrosis
58(1)
4.8 Conclusion
58(7)
References
60(5)
5 Monitoring and Evaluation of Patients with Cystic Fibrosis
65(12)
5.1 Overview
65(1)
5.2 Nutritional Status
65(1)
5.3 Gastrointestinal Disease
66(2)
5.4 Lung Disease
68(3)
5.4.1 Chest Imaging
68(1)
5.4.2 Physiologic Assessments
69(1)
5.4.3 Assessment of Early Lung Disease
70(1)
5.5 Microbiology
71(1)
5.6 Endocrine Disease
72(2)
5.6.1 Cystic Fibrosis-Related Diabetes
72(1)
5.6.2 Osteopenia
73(1)
5.7 Sinus Disease
74(1)
5.8 Reproductive and Sexual Health
74(3)
References
74(3)
6 Treatment of Cystic Fibrosis
77
6.1 Gastrointestinal Disease and Nutrition
77(3)
6.1.1 Pancreatic Enzyme Replacement Therapy
77(1)
6.1.2 Caloric Supplementation
78(1)
6.1.3 Other Supplemental Therapy
79(1)
6.1.4 Hepatobiliary Disease
79(1)
6.1.5 Intestinal Obstruction
80(1)
6.2 Pulmonary Disease
80(10)
6.2.1 Airway Clearance Therapies
82(1)
6.2.2 Bronchodilators
83(1)
6.2.3 Dornase Alfa
83(1)
6.2.4 Hypertonic Saline
84(1)
6.2.5 Anti-inflammatory Therapies
84(2)
6.2.6 Anti-Infective Therapy
86(1)
6.2.7 Pulmonary Exacerbations
87(2)
6.2.8 Other Pulmonary Complications
89(1)
6.2.9 Lung Transplantation
90(1)
6.3 Cystic Fibrosis-Related Diabetes
90(1)
6.4 Sinusitis and Nasal Polyposis
91(1)
6.5 Other Cystic Fibrosis Therapies
91(1)
6.6 CFTR Modulators
92
References
94
Amy G Filbrun, MD, MS, is Clinical Associate Professor of Pediatrics at University of Michigan and C.S. Mott Childrens Hospital, in Ann Arbor, MI USA. She received her BS in Speech from Northwestern University and her MD from Ohio State University. She completed her pediatric residency at The Cleveland Clinic, in Cleveland, OH and fellowship in pediatric pulmonology at Columbus Childrens Hospital (now Nationwide Childrens Hospital) in Columbus, OH USA. She received her MS in Clinical Research Design and Statistical Analysis from University of Michigan. Her research interests include the evaluation of early childhood lung diseases, particularly measures of lung function in infants and young children with chronic respiratory diseases. In addition, Dr. Filbrun participates in numerous clinical trials in patients with cystic fibrosis.

Thomas Lahiri, MD, is Professor of Pediatrics at the University of Vermont College of Medicine and the Director of Pediatric Pulmonology at The University of Vermont Childrens Hospital in Burlington, US. He received his BS in Biology at McGill University and his MD from the University of Connecticut School of Medicine. He completed his pediatric residency training at the University of Vermont and a fellowship in pediatric pulmonology at Boston Childrens Hospital. His clinical interests include airway disorders and cystic fibrosis. He recently co-chaired the Cystic Fibrosis Preschool Guidelines Committee.



Clement L Ren, MD, MS, is Professor of Clinical Pediatrics at Indiana University School of Medicine and the James Whitcomb Riley Hospital for Children, both in Indianapolis, IN USA. He received his AB in Biophysics from the University of California at Berkeley and his MD from the University of Chicago. He completed his pediatric residency and allergy/immunology fellowship at Boston Childrens Hospital and a fellowship in pediatric pulmonology at St. Christophers Hospital for Children in Philadelphia, US. His research has focused on cystic fibrosis epidemiology, newborn screening, and evaluation of early lung disease in infants and young children with cystic fibrosis. He has held numerous leadership positions in the US Cystic Fibrosis Foundation.
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