Tuberous sclerosis complex: genes, clinical features and therapeutics
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| Format: | Book |
| Language: | English |
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Weinheim
Wiley-Blackwell
2010
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| Subjects: | |
| Online Access: | Inhaltstext Inhaltsverzeichnis |
| Physical Description: | XXI, 409 S. Ill., graph. Darst. |
| ISBN: | 9783527322015 |
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20 CONTENTS PREFACE XVII LIST OF CONTRIBUTORS XIX PART I BASICS 1 1 THE
HISTORY OF TUBEROUS SCLEROSIS COMPLEX 3 VICKY H. WHITTEMORE 1.1
DEFINITION 3 1.2 THE HISTORY OF TUBEROUS SCLEROSIS COMPLEX 4 1.3
HEREDITARY NATURE OF TSC 6 1.4 MOLECULAR MECHANISMS IN TSC 7 1.5 THE
FUTURE OF TSC 7 REFERENCES 8 2 NATURAL HISTORY OF TUBEROUS SCLEROSIS
COMPLEX AND OVERVIEW OF MANIFESTATIONS 11 ELIZABETH A THIELE AND
SERGIUSZ JOIWIAK 2.1 TSC: MULTISYSTEM INVOLVEMENT 13 2.1.1 TSC AND THE
BRAIN 13 2.1.2 TSC AND THE SKIN 15 2.1.3 TSC AND THE HEART 16 2.1.4 TSC
AND THE KIDNEY 36 2.1.5 TSC AND THE LUNG 37 2.1.6 TSC AND THE EYE 17
2.1.7 TSC AND THE OTHER ORGAN SYSTEMS 38 2.2 TSC: A SPECTRUM ACROSS THE
LIFE SPAN 18 2.3 TSC: A "MODEL" SYSTEM 19 REFERENCES BIBLIOGRAFISCHE
INFORMATIONEN HTTP://D-NB.INFO/998577812 DIGITALISIERT DURCH VI CONTENTS
3 DIAGNOSTIC CRITERIA FOR TUBEROUS SCLEROSIS COMPLEX 21 E. STEVE ROACH
AND STEVEN P. SPARAGANA INTRODUCTION 21 REFERENCES 24 PART II GENETICS
27 4 GENETICS OF TUBEROUS SCLEROSIS COMPLEX 29 DAVIDJ. KWIATKOWSKI 4.1
INTRODUCTION 29 4.2 HISTORICAL REVIEW OF LINKAGE ANALYSIS AND POSITIONAL
CLONING OF THE TSC1 AND TSC2 GENES 29 4.2.1 INITIAL LINKAGE STUDIES 29
4.2.2 POSITIONAL CLONING OF TSC2 (1993) 30 4.2.3 POSITIONAL CLONING OF
TSC3 (1997) 31 4.3 THE TSC1 AND TSC2 GENES: GENOMIC STRUCTURE, SPLICING,
PREDICTED SEQUENCES, AND DOMAINS 31 4.3.1 GENOMIC STRUCTURE AND LOCATION
OF TSC1 AND TSC2 31 4.3.2 ALTERNATIVE SPLICING OF TSC1 AND TSC2 32 4.3.3
INTERSPECIES COMPARISONS OF TSC1 AND TSC2 33 4.3.4 PREDICTED AMINO ACID
SEQUENCES OF TSC1 CONTENTS VII 5 GENOTYPE-PHENOTYPE STUDIES IN TSC AND
MOLECULAR DIAGNOSTICS 63 KIT S. AU AND HOPE NORTHRUP 5.1 INTRODUCTION 63
5.2 COMPREHENSIVE GENOTYPE-PHENOTYPE REPORTS 62 5.3 GENOTYPE-PHENOTYPE
CORRELATION 67 5.3.1 TSC2 VERSUS TSC1 GENE MUTATIONS 67 5.3.1.1 NMI
PATIENTS 68 5.3.1.2 FAMILIAL VERSUS SPORADIC CASES 69 5.3.2 PROTEIN
TRUNCATION VERSUS MISSENSE MUTATIONS 70 5.3.3 WHOLE GENE/LARGE DELETION
VERSUS SMALL MUTATION 73 5.3.3.1 TSC3 LARGE DELETIONS 73 5.3.3.2 TSC2
LARGE DELETIONS 72 5.3.4 MUTATIONS IN TSC2 GAP DOMAIN 72 5.3.4.1 TSC2
GAP DOMAIN MUTATIONS 72 5.3.4.2 TSC2 GENE AMINO-TERMINI MUTANTS VERSUS
CARBOXY-TERMINI MUTANTS 73 5.3.5 MOSAICISM 74 5.3.6 MALE VERSUS FEMALE
SEX 74 5.4 MOLECULAR DIAGNOSTIC METHODS 75 5.5 CONCLUSION 77 REFERENCE
VIM CONTENTS 6.4 PRIMARY MTOR-RELATED SIGNALING DEFECTS TRIGGERED BY
DISRUPTION OF THE TSC1-TSC2 COMPLEX 98 6.4.1 CONSTITUTIVE AND ELEVATED
MTORCL SIGNALING 98 6.4.2 MTORCL-DEPENDENT FEEDBACK INHIBITION OF PI3K
SIGNALING 100 6.4.3 LOSS OF MT0RC2 ACTIVITY 303 6.5 PATHOLOGICAL
CONSEQUENCES OF MTOR DYSREGULATION IN TSC 303 6.5.1 NEOPLASTIC LESIONS
302 6.5.2 BENIGN TUMORS 302 6.5.3 SPECIFIC CLINICAL FEATURES 103 6.6
THERAPEUTIC OPPORTUNITIES: RAPAMYCIN AND BEYOND 104 REFERENCES 306 7 RAT
AND MOUSE MODELS OF TUBEROUS SCLEROSIS 337 DAVIDJ. KWIATKOWSKI 7.1
INTRODUCTION 337 7.2 THEEKERRAT 338 7.2.1 HISTORICAL REVIEW: THE EKER
RAT: A UNIQUE SPONTANEOUS MUTATION IN RAT TSC2 118 7.2.2 THE EKER RAT
TSC2 MODEL 338 7.2.3 GENETIC MODIFIERS IN THE EKER RAT 323 7.2.4 PATHWAY
STUDIES IN THE EKER RAT AND RAPAMYCIN TREATMENT 121 7.2.5 BRAIN AND
NEUROLOGIC FEATURES OF THE EKER RAT 121 7.3 TSC MODELS IN THE MOUSE 122
7.3.1 TSC2 KNOCKOUT MICE 322 7.3.2 HYPOMORPHIC ALIELES OF TSC2 125 7.3.
CONTENTS IX 8.7 RELATIONSHIP BETWEEN TSCL-TSC2 AND AMINO ACIDS-MEDIATED
TORCI ACTIVATION 352 8.8 UPSTREAM OF THE TSCL-TSC2 COMPLEX 352 8.9
SUMMARY 354 REFERENCES 154 PART IV BRAIN INVOLVEMENT 159 9 PATHOGENESIS
OF TSC IN THE BRAIN 363 PETER B. CRINO, RUPAL MEHTA, AND HARRY V. VINTEN
9.1 INTRODUCTION 363 9.2 TUBERS 161 9.3 SENS AND SEGAS 168 9.4 CELL
LINEAGE 171 9.5 MTOR ACTIVATION AND BIALLELIC TSC GENE INACTIVATION 376
9.6 ALTERNATIVE SIGNALING CASCADES IN TSC BRAIN LESIONS 378 9.7
STRUCTURAL ALTERATIONS IN NONTUBER BRAIN AREAS 379 9.8 CONCLUSIONS AND
FUTURE DIRECTIONS 383 REFERENCES 382 10 EPILEPSY IN TSC 187 ELIZABETH A.
THIELE AND HOWARD L WEINER 187 10.1 OVERVIEW OF EPILEPSY IN TSC 187 10.2
ROLE OF ELECTROENCEPHALOGRAPHY 387 10.3 TREATMENT OF EPILEPSY IN TSC 393
10.3.1 PHARMACOLOGIE TREATMENT 393 10.3.2 NONPHARMACOLOGIC TREATMENT 392
10.3.3 EPILEPSY SURGERY IN TSC 193 10.4 INFANTILE SPASMS 397 10.4.1
CLINICAL FEATURES OF IS 198 10.4.2 EEG FEATURES OF INFANTILE SPASMS 399
10.4.3 TREATMENT OF INFANTILE SPASMS IN TSC 202 X CONTENTS 11.6 MEDICAL
MANAGEMENT OF SEGAS 220 11.7 CONCLUSION AND SUMMARY 225 REFERENCES 225
12 NEURODEVELOPMENTAL, PSYCHIATRIC AND COGNITIVE ASPECTS OF TUBEROUS
SCLEROSIS COMPLEX 229 PETRUS J. DE VRIES 12.1 INTRODUCTION 229 12.2
DIFFERENT LEVELS OF INVESTIGATION 229 12.2.1 THE BEHAVIORAL LEVEL 230
12.2.2 THE PSYCHIATRIC LEVEL 231 12.2.2.1 DEVELOPMENTAL DISORDERS 232
12.2.2.2 MOOD AND ANXIETY DISORDERS 234 12.2.2.3 OTHER PSYCHIATRIC
DISORDERS 235 12.2.2.4 ARE THERE GENDER DIFFERENCES IN THE DEVELOPMENTAL
AND PSYCHIATRIC DISORDERS IN TSC? 236 12.2.2.5 PSYCHIATRIC LEVEL:
SUMMARY 236 12.2.3 THE INTELLECTUAL LEVEL 237 12.2.3.1 TWO INTELLECTUAL
SUBGROUPS OR PHENOTYPES IN TSC 238 12.2.3.2 IS THERE A PREDICTABLE
PATTERN OF INTELLECTUAL STRENGTHS AND WEAKNESSES IN TSC? 239 12.2.3.3
THE ASSOCIATION BETWEEN THE INTELLECTUAL LEVEL AND THE
BEHAVIORAL/PSYCHIATRIC LEVELS 239 12.2.4 THE ACADEMIC OR SCHOLASTIC
LEVEL 239 CONTENTS XI 12.3.1.4 DRAW INFORMATION TOGETHER INTO A
"FORMULATION OF NEEDS" 250 12.3.1.5 DISCUSS THE FORMULATION AND A
POSSIBLE PLAN OF ACTION WITH THE FAMILY AND THE INDIVIDUAL WITH TSC 251
12.3.1.6 RE-ASSESS AT APPROPRIATE INTERVALS AS SET OUT IN THE
INTERNATIONAL CLINICAL GUIDELINES (TABLE 12.2) 253 12.3.1.7 ARRANGE OR
PERFORM AN URGENT REASSESSMENT WHEN THERE IS A HISTORY OF SUDDEN CHANGE
IN LEARNING, BEHAVIOR, OR MENTAL HEALTH 251 12.3.2 MANAGEMENT OPTIONS
253 12.3.2.1 PSYCHO-EDUCATION 251 12.3.2.2 BEHAVIORAL INTERVENTIONS 251
12.3.2.3 COGNITIVE BEHAVIORAL INTERVENTIONS 252 12.3.2.4 COACHING
TECHNIQUES 252 12.3.2.5 PSYCHODYNAMIC APPROACHES 253 12.3.2.6
INTERVENTIONS FOR AUTISM AND AUTISM SPECTRUM DISORDERS 253 12.3.2.7
OTHER NON-PHARMACOLOGICAL APPROACHES 253 12.3.2.8 PHARMACOLOGICAL
APPROACHES 254 12.3.2.9 EDUCATIONAL INTERVENTIONS 255 12.3.2.10 SOCIAL
INTERVENTIONS 256 12.4 CAUSES OF THE NEUROCOGNITIVE AND NEUROBEHAVIORAL
FEATURES OF TSC 256 12.4.1 TUBER MODELS 256 12.4. XII CONTENTS 13.5
VISUAL FIELD DEFECTS 279 13.6 CEREBRAL VISUAL IMPAIRMENT 280 13.7 COMMON
OPHTHALMIC ISSUES 281 13.7.1 REFRACTIVE ERROR 281 13.7.2 STRABISMUS AND
AMBLYOPIA 281 13.8 SUMMARY AND RECOMMENDATIONS 281 REFERENCES 282 14
DERMATOLOGIE MANIFESTATIONS OF TUBEROUS SCLEROSIS COMPLEX (TSC) 285
THOMAS N. DARLING, JOEL MOSS, AND MARK MAUSNER 14.1 INTRODUCTION 285
14.2 TYPES OF TSC SKIN LESIONS 285 14.2.1 HYPOMELANOTIC MACULES 285
14.2.2 FACIAL ANGIOFIBROMAS 287 14.2.3 FOREHEAD PLAQUES 289 14.2.4
SHAGREEN PATCH 289 14.2.5 UNGUAL FIBROMAS 293 14.2.6 OTHER SKIN LESIONS
292 14.2.7 SIGNIFICANCE OF SKIN LESIONS FOR DIAGNOSIS OF TSC 292 14.3
PATHOGENESIS OF TSC SKIN LESIONS 293 14.4 CONSIDERATIONS FOR SURGICAL
TREATMENT OF TSC SKIN LESIONS 293 14.4.1 PATIENT EVALUATION 293 14.4.2
INDICATIONS FOR TREATMENT AND PREOPERATIVE CONSIDERATIONS 295 14.4.3
PATIENT, FAMILY, AND CAREGIVER EDUCATION 295 14.4. CONTENTS XIII 15
RENAL MANIFESTATIONS OF TUBEROUS SCLEROSIS COMPLEX 313 JOHNJ. BISSLER
AND ELIZABETH P. HENSKE 15.1 INTRODUCTION 311 15.2 ANGIOMYOLIPOMATA 311
15.3 EPITHELIOID AND MALIGNANT ANGIOMYOLIPOMATA 314 15.4 RENAL CYSTIC
DISEASE 314 15.5 ONCOCYTOMA 336 15.6 RENAL CELL CARCINOMA 316 15.7
MONITORING RENAL LESIONS 337 15.8 TREATMENT 317 15.9 CONCLUSIONS AND
FUTURE DIRECTIONS 321 REFERENCES 323 16 CARDIAC AND VASCULAR
MANIFESTATIONS 327 SERGIUSZ JOZWIAK AND MARIA RESPONDEK-LIBERSKA 16.1
INTRODUCTION 327 16.2 PREVALENCE AND NATURAL HISTORY OF CARDIAC
RHABDOMYOMAS 327 16.2.1 PREVALENCE OF CARDIAC RHABDOMYOMAS 327 16.2.2
ASSOCIATION BETWEEN CARDIAC RHABDOMYOMAS AND TUBEROUS SCLEROSIS COMPLEX
328 16.2.3 NATURAL HISTORY OF CARDIAC RHABDOMYOMAS IN TSC PATIENTS 328
16.3 CLINICAL MANIFESTATIONS 330 16.4 PATHOLOGY AND MOLECULAR BIOLOGY OF
CARDIAC TUMORS 332 16.5 DIAGNOSIS 334 16. XIV CONTENTS 17.9.4 17.9.5
17.9.6 17.10 17.10.1 17.10.2 17.10.3 17.10.4 17.10.5 17.10.6 17.11 IS
18.1 18.2 18.2.1 18.2.2 18.2.3 18.2.4 18.2.5 18.2.6 18.2.7 18.2.8 18.3
18.3.1 18.3.2 18.3.3 18.3.4 18.4 18.5 18.6 MEDICAL TREATMENT 353
TRANSPLANTATION 354 LIFESTYLE AND MISCELLANEOUS ISSUES 355 GENETIC BASIS
AND MOLECULAR PATHOLOGY 355 TUBEROUS SCLEROSIS COMPLEX-ASSOCIATED LAM
355 SPORADIC LAM 356 LAM CELLS HAVE EVIDENCE OF MTOR ACTIVATION 356 THE
CELL-OF-ORIGIN OF LAM IS UNKNOWN 358 ESTROGEN MAY PROMOTE LAM
PATHOGENESIS 358 CYSTIC LUNG DISEASE IN LAM 359 CHALLENGES AND FUTURE
DIRECTIONS 360 REFERENCES 362 ENDOCRINE, GASTROINTESTINAL, HEPATIC, AND
LYMPHATIC MANIFESTATIONS OF TUBEROUS SCLEROSIS COMPLEX 369 FINBARJ.
O'CALLAGHAN AND JOHN P. OSBOME INTRODUCTION AND SUMMARY 369 CONTENTS XV
19.5.1 ADULTS WITH TSC 392 19.5.2 PARENTS OF A CHILD WITH TSC 393 19.5.3
SIBLINGS OF AN INDIVIDUAL WITH TSC 393 19.5.4 FAMILY MEMBERS OF AN
INDIVIDUAL WITH TSC 394 19.5.5 REPRODUCTIVE OPTIONS AND DECISION MAKING
394 19.6 SUMMARY 395 REFERENCES 395 INDEX 397 |
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| spelling | Tuberous sclerosis complex genes, clinical features and therapeutics ed. by David J. Kwiatkowski ... Weinheim Wiley-Blackwell 2010 XXI, 409 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Tuberöse Hirnsklerose (DE-588)4186390-2 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Tuberöse Hirnsklerose (DE-588)4186390-2 s DE-604 Kwiatkowski, David J. edt text/html http://deposit.dnb.de/cgi-bin/dokserv?id=3385124&prov=M&dok_var=1&dok_ext=htm Inhaltstext DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=020201507&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Tuberous sclerosis complex genes, clinical features and therapeutics Tuberöse Hirnsklerose (DE-588)4186390-2 gnd |
| subject_GND | (DE-588)4186390-2 (DE-588)4143413-4 |
| title | Tuberous sclerosis complex genes, clinical features and therapeutics |
| title_auth | Tuberous sclerosis complex genes, clinical features and therapeutics |
| title_exact_search | Tuberous sclerosis complex genes, clinical features and therapeutics |
| title_full | Tuberous sclerosis complex genes, clinical features and therapeutics ed. by David J. Kwiatkowski ... |
| title_fullStr | Tuberous sclerosis complex genes, clinical features and therapeutics ed. by David J. Kwiatkowski ... |
| title_full_unstemmed | Tuberous sclerosis complex genes, clinical features and therapeutics ed. by David J. Kwiatkowski ... |
| title_short | Tuberous sclerosis complex |
| title_sort | tuberous sclerosis complex genes clinical features and therapeutics |
| title_sub | genes, clinical features and therapeutics |
| topic | Tuberöse Hirnsklerose (DE-588)4186390-2 gnd |
| topic_facet | Tuberöse Hirnsklerose Aufsatzsammlung |
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