While the authors, editors and publisher believe that drug selection and dosage and the specifications and usage of equipment and devices, as set forth in this book, are in accord with current recommendations and practice at the time of publication, they make no warranty, expressed or implied, with respect to material described in this book. In view of the ongoing research, equipment development, changes in governmental regulations and the rapid accumulation of information relating to the biomedical sciences, the reader is urged to carefully review and evaluate the information provided herein.

Library of Congress Cataloging-in-Publication Data

Marfan syndrome : a primer for clinicians and scientists / [edited by] Peter N. Robinson, Maurice Godfrey.

p. ; cm. -- (Medical intelligence unit) Includes bibliographic references and index. ISBN 0-306-48238-X

1. Marfan syndrome. I. Robinson, Peter N. (Peter Nicholas), 1963II. Godfrey, Maurice. III. Series: Medical intelligence unit (Unnumbered : 2003)

[DNLM: 1. Marfan Syndrome. WD 375 M326 2004] RC580.M37M37 2004

616.7'73--dc22

2004015623

Preface ..................................................................................................	xi
Introduction: Historical Introduction
The Marfan Syndrome: From Clinical Delineation
to Mutational Characterization, a Semiautobiographic Account ............	1
Victor A. McKusick
Tutelage in the Principle of Pleiotropism ...............................................	3
Clinical Delineation of Marfan Syndrome
and Three Main Principles of Clinical Genetics .................................	4
The Evolution of Clinical Management of the Marfan Syndrome .........	6
The Basic Defect ...................................................................................	7
Marfan Support Groups ........................................................................	8
Public Awareness of Marfan Syndrome .................................................	9
Epilogue ..............................................................................................	10
1. Diagnosis and Treatment of Marfan Syndrome—A Summary .............	13
Anne H. Child, Luitgard Neumann and Peter N. Robinson
Overview .............................................................................................	13
Clinical Management ..........................................................................	16
Inheritance ..........................................................................................	17
The Differential Diagnosis of Marfan Syndrome .................................	19
2. Orthopaedic Problems in Marfan Syndrome ........................................	24
Paul Sponseller and Michael Shindle
Overview .............................................................................................	24
Diagnosis ............................................................................................	24
Spinal Abnormalities ...........................................................................	25
Hip Deformity ....................................................................................	30
Joint Manifestations ............................................................................	31
Growth and Maturation ......................................................................	31
Bone Density .......................................................................................	31
Screening and Athletics .......................................................................	32
3. Ophthalmological Aspects ....................................................................	35
Thomas Rosenberg
The Role of the Ophthalmologist ........................................................	35
Key Symptoms ....................................................................................	35
Ocular Pathophysiology ......................................................................	35
Clinical Signs ......................................................................................	37
Retina ..................................................................................................	38
Ophthalmological Differential Diagnosis ............................................	39
Complications .....................................................................................	40
Management .......................................................................................	41
Surgery ................................................................................................	42

4. Cardiovascular Aspects of the Marfan Syndrome:
A Systematic Review ............................................................................	45
Yskert von Kodolitsch and Maike Rybczynski
Methods ..............................................................................................	45
Prognosis and Causes of Death in Untreated MFS ..............................	46
Prevalence of Cardiovascular Manifestations .......................................	47
Pathogenesis of Cardiovascular Disease ...............................................	50
Concomitant Cardiovascular Disease ...................................................	52
Cardiovascular Complications .............................................................	53
Pregnancy ............................................................................................	58
Diagnosis of Cardiovascular Abnormalities ..........................................	59
General Measures of Management .......................................................	60
Medical Management ..........................................................................	60
Indications for Surgery ........................................................................	61
Surgically Treated MFS Patients ..........................................................	62
Strategies for Follow-Up ......................................................................	63
5. Cardiovascular Surgery: Surgical Management
of the Marfan Patient at the Johns Hopkins Hospital ..........................	70
Duke E. Cameron and Vincent L. Gott
Indications for Cardiovascular Surgery ................................................	71
Surgical Procedures .............................................................................	73
Long Term Results of Surgery .............................................................	76
Long Term Management Following Aortic Root Replacement ............	80

6.Surgery for Cardiovascular Disorders in Marfan Syndrome: The Atrioventricular Valves, Distal Aortic Segments

and Myocardium ..................................................................................	81
Roland Hetzer, Reinhard Pregla and Frank Barthel
Atrioventricular Valves in Marfan Patients ..........................................	82
Indications for Atrioventricular Valve Surgery .....................................	83
Techniques of Surgery .........................................................................	84
Surgery of the Distal Aortic Segments .................................................	85
Distal (Type B) Dissections and Aneurysm Formation
in the Distal Aorta Following Ascending Replacement
in Type A Dissection .......................................................................	89
Cardiomyopathy in Marfan Patients ....................................................	90
Cardiovascular Disease in Children with Marfan Syndrome ................	90
Noncardiac Marfan Anomalies Affecting
Cardiac Surgery Operations .............................................................	91
7. Mutation Analysis of the FBN1 Gene in Individuals
with Marfan Syndrome: Sensitivity, Methods,
Clinical Indications ..............................................................................	93
Anne De Paepe, Bart Loeys and Paul Coucke
Diagnosis of the Marfan Syndrome:
Interpretation and Limitations of the Ghent Nosology ....................	93

Methodology for Mutational Analysis of the FBN1 Gene ....................	95
Clinical Indications for Mutation Analysis of the FBN1 Gene .............	97
8. The Marfan Mutation Database .........................................................	101
Gwenaëlle Collod-Béroud and Catherine Boileau
Database ............................................................................................	101
Routines ............................................................................................	102
Mutation Analyses .............................................................................	103
FBN1 Polymorphism Database .........................................................	110
9. Familial Thoracic Aortic Aneurysms and Dissections .........................	113
Sumera N. Hasham and Dianna M. Milewicz
Aortic Aneurysms and Dissections .....................................................	113
Thoracic Aortic Aneurysms and Dissection Associated
with Genetic Syndromes ...............................................................	114
Familial Thoracic Ascending Aortic Aneurysms and Dissections .......	115
10. Fibrillin-2 Mutations in Congenital Contractural Arachnodactyly .....	123
Maurice Godfrey
Introduction and Clinical Phenotype ................................................	123
Diagnosis and Genetic Counseling ....................................................	123
Management .....................................................................................	123
Severe/Lethal CCA ............................................................................	124
Molecular Genetics of CCA ..............................................................	126
Fibrillin-2 in Development and Animal Models ................................	127
11. Assembly of Microfibrils ....................................................................	130
Kerstin Tiedemann, Boris Bätge and Dieter P. Reinhardt
Methodological Approaches to Study Microfibril Assembly ...............	130
Microfibril Assembly Is Often Disturbed
in Individuals with MFS ................................................................	131
Role of Propeptide Processing in Fibrillin Assembly ..........................	133
Role of Intermolecular Cross-Link Formation
in Fibrillin Assembly .....................................................................	134
Interaction Epitopes Important for Fibrillin Assembly .......................	136
Mouse Models and Fibrillin Assembly ...............................................	138
Future Directions ..............................................................................	139
12. Organization and Biomechanical Properties
of Fibrillin Microfibrils ......................................................................	143
Cay M. Kielty, Tim J. Wess, J. Louise Haston, Michael J. Sherratt,
Clair Baldock and C. Adrian Shuttleworth
Tissue Organisation of Fibrillin-Rich Microfibrils .............................	144
Organisation of Isolated Microfibrils .................................................	148
Mechanical Properties of Microfibrils ................................................	150

13. Microfibril-Associated Glycoprotein-1 (MAGP-1)
and Other Non-Fibrillin Macromolecules Which May Possess
a Functional Association with the 10 nm Microfibrils ........................	161
Mark A. Gibson
MAGPs .............................................................................................	162
Function of MAGPs ..........................................................................	165
Other Small Microfibril-Associated Proteins (MFAPs) ......................	167
Proteoglycans ....................................................................................	169
Fibulins .............................................................................................	170
LTBPs ...............................................................................................	171
Emilins ..............................................................................................	172
Other Proteins ...................................................................................	172
Involvement in Human Genetic Diseases ..........................................	172
14. The Fibrillins and Key Molecular Mechanisms
that Initiate Disease Pathways ............................................................	178
Lynn Y. Sakai
Molecular Structure of Fibrillin: How FBN Mutations
Initiate Disease ..............................................................................	179
Fibrillin Microfibrils: Mutations Result in Poorly Assembled
Microfibrils and/or Microfibril Instability .....................................	181
Microfibrils and Morphogenesis: Effects of Fibrillin Mutations
on Growth Factors ........................................................................	183
New Research Opportunities Relevant to the Marfan Syndrome .......	185
15. Insights into Fibrillin-1 Structure and Function
from Domain Studies .........................................................................	188
Pat Whiteman and Penny A. Handford
Structure of Fibrillin-1 Domains .......................................................	188
Calcium Binding Properties of Fibrillin-1 .........................................	191
Structural Consequences of FBN1 Mutations ....................................	192
Correlation of Structural Studies with the Cellular Effects
of Missense Mutations ...................................................................	195
16. Genetics of Marfan Syndrome in Mouse Models ................................	199
Emilio Arteaga-Solis, Harry Dietz and Francesco Ramirez
Elastic Fiber Composition and Assembly ...........................................	199
Mouse Models of MFS ......................................................................	200
Instructive Roles of Microfibrils ........................................................	203
Perspectives .......................................................................................	205
Appendix: Marfan Syndrome Patient Organizations ..........................	209
Index ..................................................................................................	215

1 / 121 2 3 4 5 6 7 8 9 10 11 12 > Следующая >>>

Соседние файлы в папке Английские материалы

#
28.03.20262.96 Mб0Manual of Ocular Diagnosis and Therapy 5th edition_.Pavan-Langston_2002.pdb
#
28.03.20265.24 Mб0Manual of Ocular Diagnosis and Therapy 6th edition_.Pavan-Langston_2008.chm
#
28.03.20261.98 Mб0Manual of Practical Cataract Surgery_Sundararajan_2009.pdf
#
28.03.20266.31 Mб0Manual of Retinal Surgery 2nd edition_Packer_2001.pdf
#
28.03.20261.81 Mб0Manual of Squint_Ahuja_2008.pdf
#
28.03.20265.13 Mб0Marfan Syndrome A Primer for Clinicians and Scientists_Robinson, Godfrey_2004.pdf
#
28.03.202633.26 Mб0Master Techniques in Blepharoplasty and Periorbital Rejuvenation_Massry, Murphy, Azizzadeh_2011.pdf
#
28.03.202627.76 Mб0Master Techniques in Cataract and Refractive Surgery_Hampton Roy, Arzabe_2004.pdf
#
28.03.202612.97 Mб0Master's Guide to Manual Small Incision Cataract Surgery (MSICS)_Garg_2009.pdf
#
28.03.20268.82 Mб0Mastering Corneal Collagen Cross Linking Techniques (C3-R, CCL, CxL)_Garg_2009.pdf
#
28.03.20268.13 Mб0Mastering Corneal Collagen Cross-linking Techniques (C3-R CCL CxL)_Garg, Kanellopoulos, O'Brart, Lovisolo, Pinelli_2008.pdf

LANDES BIOSCIENCE / EUREKAH.COM	KLUWER ACADEMIC / PLENUM PUBLISHERS
GEORGETOWN, TEXAS	NEW YORK, NEW YORK
U.S.A.	U.S.A.

CONTENTS