Hirschsprung's Disease and Allied Disorders
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1 Hirschsprung's Disease and Allied Disorders Bearbeitet von Alexander Matthias Holschneider, Prem Puri 3rd ed Buch. xviii, 414 S. Hardcover ISBN Format (B x L): 19,3 x 27 cm Gewicht: 1118 g Weitere Fachgebiete > Medizin > Klinische und Innere Medizin > Gastroenterologie, Proktologie Zu Leseprobe schnell und portofrei erhältlich bei Die Online-Fachbuchhandlung beck-shop.de ist spezialisiert auf Fachbücher, insbesondere Recht, Steuern und Wirtschaft. Im Sortiment finden Sie alle Medien (Bücher, Zeitschriften, CDs, ebooks, etc.) aller Verlage. Ergänzt wird das Programm durch Services wie Neuerscheinungsdienst oder Zusammenstellungen von Büchern zu Sonderpreisen. Der Shop führt mehr als 8 Millionen Produkte.
2 Contents 1 Hirschsprung s Disease: A Historical Perspective J. L. Grosfeld 2 Development of the Enteric Nervous System 13 P. Puri and U. Rolle 2.1 Introduction Embryonic Origin of ENS Origin and Development of Neural Crest-Derived Cells Functional Development of the ENS Development of Intestinal Motility Genes Involved in ENS Development Other Factors Implicated in the Control of ENS Development Conclusions Functional Anatomy of the Enteric Nervous System M. D. Gershon 3.1 Introduction The Normal Enteric Nervous System Organization of Enteric Neurons The ENS is Derived from the Neural Crest The Crest-Derived Cells that Colonize the Gut are Originally Pluripotent and Migrate to the Bowel Along Defined Pathways in the Embryo Enteric Neurons are Derived from More Than One Progenitor Lineage Dependence of Enteric Neuronal Subsets on Different Microenvironmental Signals (Growth/Differentiation Factors) Defines Sublineages of Precursor Cells: RET and Glial Cell Line-Derived Neurotrophic Factor The Development of the ENS is Probably Influenced by a Neurotrophin NT-3 Promotes the Development of Enteric Neurons The Development of the ENS is Probably Influenced by a Cytokine An Aganglionosis Similar to That in Hirschsprung s Disease Occurs in ls/ls and sl/sl Mice Genetic Abnormalities in Genes Encoding Endothelin-3 or its Receptor, Endothelin-B, are Associated with Spotted Coats and Aganglionosis An Action of EDN3 on Crest-Derived Precursors Does Not, by Itself, Account for the Pathogenesis of Aganglionosis The Pathogenesis of Aganglionosis Is Not Explained by an Abnormality Limited to Crest-Derived Neural Precursors The Extracellular Matrix is Abnormal in the Presumptive Aganglionic Bowel of ls/ls Mice Laminin-1 Promotes the Development of Neurons from Enteric Cells of Neural Crest Origin The Effect of Laminin-1 on Enteric Neuronal Development Depends on the Binding of its α1 Chain to LBP The Effects of Laminin-1 on Crest- Derived Cells Immunoselected from the Fetal Bowel Are Different from those of Laminin-1 on Cells Isolated from the Crest Itself Premature Neuronal Differentiation May Result When Inadequately Resistant Progenitors Encounter an Excessively Permissive Extracellular Matrix Both Crest-Derived and Non-Neuronal Cells of the Colon Probably Respond to EDN
3 Contents 3.21 Interstitial Cells of Cajal are Present, but Abnormal, in the Aganglionic Bowel of Hirschsprung s Disease Hirschsprung s Disease is Associated with Many Different Genetic Abnormalities: Conclusion From Animal Models Summary Animal Models of Aganglionosis A. M. Alzahem and D.T. Cass 4.1 Introduction History Histologic Anatomy Physiology Embryologic Studies on Rodent Models of Aganglionosis Molecular Genetics Contribution of Animal Models to Theories as to the Cause of Aganglionosis Summary The Molecular Genetics of Hirschsprung s Disease F. Lantieri, P. Griseri, J. Amiel, G. Martucciello, I. Ceccherini, G. Romeo and S. Lyonnet 5.1 Epidemiology and Genetics of HSCR The RET Protooncogene Other Genes Involved in HSCR Pathogenesis Genetic Analysis to Identify Other HSCR Loci Additional Contribution of the RET Gene: SNPs and Haplotypes Genetic Counseling Normal Colonic Motor Function and Relevant Structure J. Christensen 6.1 Introduction Morphology Motor Functions of the Large Intestine 86 7 Pathophysiology of Hirschsprung s Disease P. Puri and S. Montedonico 7.1 Introduction Organization of the Gut Motility of the Gut The Gut in Hirschsprung s Disease Gut motility in Hirschsprung s Disease Final Remarks Hirschsprung s Disease: Clinical Features P. Puri and S. Montedonico 8.1 Introduction Incidence Classification Sex Race Heredity Clinical Presentation Congenital Anomalies and Genetic Associations in Hirschsprung s Disease S.W. Moore 9.1 Introduction Etiology of HSCR Overview of Associated Anomalies in HSCR Gene-related Associations of HSCR Significant Clinical Associations of HSCR Other Less Common Associations with HSCR Enterocolitis Complicating Hirschsprung s Disease F. Murphy, M. Menezes and P. Puri 10.1 Introduction Pathogenesis Theories of Pathogenesis Microbiology Pathology Risk Factors for Enterocolitis Clinical Presentation and Diagnosis Treatment Prognosis Diagnosis of Hirschsprung s Disease and Allied Disorders J. Kelleher and N. Blake 11.1 Radiological Diagnosis Initial Radiographs Differential Diagnosis Enema Technique Enema Findings Enterocolitis
4 Contents XI 11.7 Postoperative Examinations Intestinal Neuronal Dysplasia Functional Diagnosis A.M. Holschneider and I. Steinwegs 12.1 Anorectal Motility Physiology of the Internal Anal Sphincter Comparison of the Internal Anal Sphincter and the Rectum Electromanometry Pathological Electromanometric Criteria Potential Electromanometric Errors Accuracy of Electromanometry Anorectal Manovolumetry Electromyography Endosonography Transit-time studies Conclusions Histopathological Diagnosis and Differential Diagnosis of Hirschsprung s Disease W. Meier-Ruge and E. Bruder 13.1 Introduction Hirschsprung s Disease Ultrashort Hirschsprung s Disease (UHD) Total Aganglionosis of the Colon Hypoganglionosis of the Colon Immaturity of the Submucous and Myenteric Plexus Intestinal Neuronal Dysplasia Type B (IND B) Intestinal Neuronal Dysplasia Type A (IND A) Hypoplasia of Nerve Cells in the Submucous and Myenteric Plexus (Hypoplastic Dysganglionic Oligoneuronal Hypoganglionosis) Desmosis of the Colon Pathogenesis of Hirschsprung s Disease and Related Disorders Artifacts and Pitfalls in the Enzyme Histochemical Technique NADPH-Diaphorase Histochemistry U. Rolle and P. Puri 14.1 Introduction Nitric Oxide and NADPH-Diaphorase Tissue Preparation for NADPH- Diaphorase Histochemistry Whole-Mount Preparation Technique NADPH-Diaphorase Histochemistry Immunohistochemical Studies U. Rolle and P. Puri 15.1 Introduction General Markers Cholinergic Markers (Nor)Adrenergic markers (Tyrosine Hydroxylase/Dopamine β-hydroxylase) Non-adrenergic Non-cholinergic Markers Neuropeptides Markers of Neuron-supporting Cells Synaptic Markers Specific Staining of Hypertrophic Nerve Fibers in HD Diagnostic and Clinical Use: Recommendations for Diagnosis Electron Microscopic Studies of Hirschsprung s Disease T. Wedel, H.-J. Krammer and A.M. Holschneider 16.1 Introduction Ultrastructural Features of Intestinal Aganglionosis Pathogenetic Implications Intestinal Neuronal Malformations (IND): Clinical Experience and Treatment A. M. Holschneider, P. Puri, L. H. Homrighausen, and W. Meier-Ruge 17.1 Introduction Genetic Observations Occurrence Classification Symptoms Incidence Biopsy Technique Diagnostic Criteria Newer Staining Techniques Age Correlation Between Histological Findings and Clinical Symptoms Maturation and Apoptosis Association Between IND and HD Management Conclusion: Is IND a Real Disease?
5 XII Contents 18 Neurocristopathies and Particular Associations with Hirschsprung s Disease S. W. Moore 18.1 Introduction Neurocristopathies Associated with HSCR Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome P. Puri 19.1 Introduction Pathogenesis Prenatal Diagnosis Clinical Presentation Radiological Findings Surgical or Autopsy Findings Histological Findings Outcome Conclusion Degenerative Hollow Visceral Myopathy Mimicking Hirschsprung s Disease H. Rode, R.A. Brown and A. Numanoglu 20.1 Introduction Classification Etiology Diagnosis Pathology Extraintestinal Lesions Specific Disorders of Smooth Muscle Differential Diagnosis Treatment Prognosis Conclusion Adynamic Bowel Syndrome P. J. MilIa 21.1 Introduction Clinical Presentation Disorders Causing Pseudo- Hirschsprung s Disease Enteric Nervous System Disease Disorders Affecting Intestinal and Urinary Smooth Muscle Disorders of the Endocrine Environment Diagnostic Techniques Conclusions Anal Sphincter Achalasia and Ultrashort Hirschsprung s Disease A. M. Holschneider and M. Kunst 22.1 Anal Sphincter Achalasia Ultrashort Hirschsprung s Disease Classification of Anal Sphincter Achalasia Symptoms Anal Sphincter Achalasia in Combination with Hirschsprung s Disease Reinnervation of the Internal Anal Sphincter Diagnosis Therapy of Anal Sphincter Achalasia Results Laparoscopically Assisted Anorectal Pull-Through K. E. Georgeson and O. J. Muensterer 23.1 Introduction Operative Technique Results Discussion Swenson s Procedure P. Puri 24.1 Swenson s Procedure Experience with Swenson s Operation Soave s Extramucosal Endorectal Pull-Through Procedure V. Jasonni, A. Pini Prato and G. Martucciello 25.1 History of the Endorectal Pull-Through Procedure Operative Technique Anatomic Postoperative Condition Modifications of Soave s Technique Treatment of Hirschsprung s Disease Rehbein s Procedure (Deep Anterior Resection) A. M. Holschneider and R. Rassouli 26.1 Principles Age at Operation Colostomy: Yes or No?
6 Contents XIII 26.4 Our Modification of Rehbein s Technique Mobilization of the Colon and Rectum Anastomosis Differences in Caliber of the Rectum and Colon Procedure for Long Aganglionic Segments Own Results with Rehbein s Technique Final Considerations Transanal Pull-Through for Hirschsprung s Disease S. Somme and J. C. Langer 27.1 Introduction Primary Pull-Through Development of the Transanal Pull- Through Surgical Technique Results of the Transanal Pull-Through Ongoing Controversies Conclusions Duhamel s Procedure B. M. Ure and M. L. Metzelder 28.1 General Aspects Operative Technique Modifications of the Duhamel Procedure Complications and Results of Duhamel s Procedure Laparoscopic Duhamel s Procedure Duhamel s Technique for Re-Do Pull-Through Procedure Early and Late Complications Following Operative Repair of Hirschsprung s Disease 375 D. C. Little and C. L. Snyder 29.1 Overview Early Complications Late Complications Conclusion Long-Term Results and Quality of Life After Treatment of Hirschsprung s Disease and Allied Disorders D. H. Teitelbaum and A. G. Coran 30.1 Introduction Continence Stooling Frequency and Constipation Enterocolitis Total Colonic Aganglionosis Stricture Formation After Definitive Pull-Through Procedure Impotence and Urinary Dysfunction Late Mortality Long-term Outcome in Patients With Intestinal Neuronal Dysplasia Overall Quality of Life Conclusions Subject Index
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