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Animal Models of Human Birth Defects [[electronic resource] /] / edited by Aimin Liu
| Animal Models of Human Birth Defects [[electronic resource] /] / edited by Aimin Liu |
| Edizione | [1st ed. 2020.] |
| Pubbl/distr/stampa | Singapore : , : Springer Singapore : , : Imprint : Springer, , 2020 |
| Descrizione fisica | 1 online resource (vii, 244 pages) : illustrations |
| Disciplina | 616.043 |
| Collana | Advances in Experimental Medicine and Biology |
| Soggetto topico |
Laboratory medicine
Animal models in research Molecular biology Laboratory Medicine Animal Models Molecular Medicine Malformacions Naixement Investigació Experimentació animal |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 981-15-2389-4 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Chapter 1: Using forward and reverse genetics in mouse to study birth defects -- Chapter 2: Using animals to study neural tube defects -- Chapter 3: Using animals to study ciliopathies -- Chapter 4: Using animals to model human skeletal defects -- Chapter 5: Understanding eye defects using animal models -- Chapter 6: Modelling kidney and urinary tract defects in animals -- Chapter 7: Pancreas development and type I diabetes -- Chapter 8: Using animals to study human birth defects affecting the functions of the digestive system -- Chapter 9: Modelling human birth defects with zebrafish -- Chapter 10: Modelling diseases with C. elegans -- Chapter 11: Infectious disease and birth defects. |
| Record Nr. | UNINA-9910409697703321 |
| Singapore : , : Springer Singapore : , : Imprint : Springer, , 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Birth defects in India : epidemiology and public health implications / / Anita Kar, editor
| Birth defects in India : epidemiology and public health implications / / Anita Kar, editor |
| Pubbl/distr/stampa | Gateway East, Singapore : , : Springer, , [2021] |
| Descrizione fisica | 1 online resource (377 pages) |
| Disciplina | 614.5992 |
| Soggetto topico |
Abnormalities, Human - Epidemiology
Malformacions Naixement Neonatologia Epidemiologia Salut pública |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 981-16-1554-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Intro -- Preface -- Acknowledgements -- Introduction: Birth Defects and Public Health in Low and Middle-Income Countries -- Contents -- Editor and Contributors -- Abbreviations -- List of Figures -- List of Tables -- List of Boxes -- Part I A Public Health Approach -- 1 Birth Defects: A Public Health Approach -- The Need for Birth Defects Services in LMICs -- Individual, Health and Social Welfare System Impact -- Magnitude of Congenital Anomalies -- Epidemiological Transition -- A Public Health Framework -- Birth Defect Surveillance -- Prevention of Birth Defects -- Integrated medical and rehabilitation services -- Other Public Health Activities -- The World Health Assembly Resolution on Birth Defects -- India as an Example of a LMIC -- Socio-demographic and Health Indicators -- Socio-demographic Index and Epidemiological Transition -- Health System -- Maternal and Child Health Services -- References -- 2 Some Common Birth Defects -- Section I : Common Congenital Anomalies/Malformations -- Congenital Heart Defects -- Orofacial Clefts -- Spina Bifida and Neural Tube Defects -- Hydrocephalus, Macrocephaly, Microcephaly -- Clubfoot (Congenital Talipes Equinovarus) -- Developmental Dysplasia of the Hip -- Congenital Limb Defects -- Polydactyly -- Section II : Developmental (Neuromotor) Disabilities -- Intellectual Disability -- Down Syndrome -- Attention-Deficit/Hyperactivity Disorder -- Autism Spectrum Disorders -- Cerebral Palsy -- Congenital Hearing Impairment -- Vision Impairment/Blindness -- Section III : Common Single Gene Disorders -- Hemoglobinopathies -- Hemophilia -- Muscular Dystrophy -- Achondroplasia -- Conclusion -- References -- 3 Thalidomide: Understanding the Responsibilities of a Birth Defects Service -- Thalidomide -- Thalidomide Distribution Across the World -- Thalidomide Embryopathy/Syndrome.
Health and Social Impact of Thalidomide -- Clinical Needs of Children -- Impact of Disability: Schooling -- Impact on Parents -- Health and Welfare Needs with Ageing -- The Response to the Thalidomide Tragedy -- Health and Social Sector Service Response -- Birth Defects Surveillance -- Drug Regulation -- Abortion Legislation -- Compensation and Economic Support -- Regulated Reintroduction of Thalidomide -- Thalidomide in Developing Countries -- Lessons for a Birth Defects Service -- Zika Virus and the Public Health Response -- Congenital Zika Virus Syndrome -- Public Health Response -- Health System Challenges -- Impact on Families -- References -- Part II Surveillance, Registries and Magnitude -- 4 Birth Defects Surveillance in India -- Background -- Birth Defects Surveillance -- Birth Defects Surveillance: Factors Affecting Reporting of Prevalence Data -- Birth Defects Surveillance in LMICs -- Birth Defects Surveillance in India -- Summary and Conclusion -- References -- 5 Rare Disease Registries: A Case Study of the Haemophilia Registry in India -- Disease Registries -- Rare Diseases -- Rare Disease registries -- RDs and registries in India -- The Haemophilia Registry in India -- Haemophilia -- Evolution of Haemophilia Services in India -- World Federation of Hemophilia : Global mentorship -- Annual Global Surveys and the National Hemophilia Registry of India -- Registry data for mobilizing access to care -- References -- 6 Magnitude of Congenital Anomalies in India -- Child Health in India -- Sources of Data -- Congenital Anomaly Prevalence -- Individual Research Studies -- PUBOs Study Estimates -- Estimates from the Modell Database -- Rashtriya Bal Swasthya Karyakram Data -- Data from Birth Defects Surveillance Systems in India -- Congenital Anomaly Mortality -- Data from the Medical Certification of Cause of Death. National Child Mortality Estimates -- Cause-Specific Mortality Estimates -- Global Burden of Disease Study -- GBDI Congenital Birth Defect Data -- Mortality Data from MGDb -- Disability -- Summary -- References -- 7 Magnitude of Developmental Disabilities in India -- Childhood Development -- Developmental Delays and Disabilities -- Developmental Disabilities -- Tools for Measuring Developmental Disabilities -- Sources of Data -- Developmental Disability Surveillance -- National Surveys -- Ad Hoc Studies -- Prevalence of Developmental Disabilities in India -- Selected Conditions -- Epilepsy -- Cerebral Palsy -- Intellectual Disabilities -- Autism Spectrum Disorders -- Attention-Deficit/Hyperactive Disorders -- Data from Global Burden of Disease Study -- India -- Conclusion -- References -- 8 Magnitude and Characteristics of Children with Congenital Disabilities in India -- Magnitude of CWD -- Prevalence of Childhood Disability by Type of Disability -- Magnitude of CWCD -- Age-Specific Prevalence Per 10,000 -- Duration of Disability -- Characteristics of CWCD -- Severity of Disability -- Self-care and Utilization of Services -- Conclusions -- References -- Part III Prevention -- 9 Preventing Congenital Anomalies Through Existing Maternal and Child Health Services in India -- Background -- Aetiology of Congenital Anomalies -- Teratogens -- Environmental Risk Factors for Congenital Anomalies -- Shared Risk Factors with Other Adverse Pregnancy Outcomes -- Prevalence of Risk Factors for Congenital Anomalies and APOs in Indian Women -- Prevention -- Effectiveness of Preventive Measures -- Opportunities for Prevention in Public Health Programmes: RMNCHA+ Programme in India -- References -- 10 Neural Tube Defects and Folate Status in India -- Neural Tube Defects -- Magnitude of NTDs in India -- Risk Factors -- Folate -- Assessment of Folate Status. Cut-Offs for Determining Folate Status -- Prevalence of Folate Deficiency in India -- Determinants of Folate Deficiency -- Maternal Methylenetetrahydrofolate Reductase (MTHFR) 677C > -- T Polymorphism -- Summary and Conclusion -- References -- 11 Haemoglobinopathies: Genetic Services in India -- Haemoglobinopathies -- Epidemiology -- Impact of Thalassemia on Patients and Families in Low-Income Settings -- Quality of Life (QoL) -- Out-of-Pocket Expenditure -- Basic Components of a Genetic Service -- History of Development of Thalassemia Services in India -- Guidelines on Haemoglobinopathies in India -- Prevention Strategies -- Pretest and Post-test Counselling in Community-Based Screening Programmes -- Genetic Counselling Education, Testing Laboratories in India -- Medical Care -- Global Strategies for Prevention of Haemoglobinopathies -- Ethical Considerations for Indian Genetic Screening Services -- Monitoring -- Research -- References -- Part IV Services -- 12 Medical, Rehabilitation and Social Welfare Services for Children with Birth Defects and Developmental Disabilities in India -- Organization of Health, Rehabilitation and Social Welfare Services in India -- Medical Services -- Organization of Government and Private Medical Services in India -- Government General Medical Services in India -- Birth Defects Service Components in the Maternal and Child Health Programme -- Prenatal Detection of Foetal Anomalies -- Care of Small and Sick Newborns -- Medical Care for Selected Birth Defects and Developmental Disabilities: RBSK -- Medical Services for Genetic Disorders -- Haemoglobinopathies -- Haemophilia -- Rehabilitation Services -- Rehabilitation Services Through DEICs -- Rehabilitation Services Through National Institutes and Centres -- Social Welfare Services -- Disability Certification -- Disability Policy and Legislations. Social Rehabilitation Services -- The National Trust -- Education, Skills, Sports, Employment -- Medical Insurance -- Assistive Devices -- Certification of Rehabilitation Professionals -- Legal Services -- Conclusion -- References -- 13 Early Childhood Intervention Services in India -- Early Child Growth and Development -- Milestones of Development -- Factors Affecting Growth and Development of a Child -- Early Childhood Intervention -- Early Intervention Strategies -- Early Intervention Services in India -- District-Based Model for Early Intervention for Children with disabilities -- Conclusion -- References -- Part V Quality of Life -- 14 Birth Defects Stigma -- Stigma -- Birth Defects Stigma -- Birth Defects and the Dimensions of Stigma -- Public Health Activities and Birth Defects Stigma -- Genetic Testing, Genetic Screening and Stigma -- Prenatal Testing and Abortion Stigma -- Disability -- Parents and Caregivers -- Stigma Prevention in a Birth Defects Service -- References -- 15 Parenting a Child with a Disability: A Review of Caregivers' Needs in India and Service Implications -- Introduction -- Evolution of Family Centred Care (FCC) -- Medical and Rehabilitation Needs of Caregivers of Children with Disability in Industrialized Countries -- Needs During Diagnosis -- Need for Information on Disability Services -- Needs of Information on Schooling, Recreation, Assistive Devices -- Needs During Transition Beyond Schooling -- Financial Support -- Parent and Family-Centred Needs -- Needs Related to Respite Care -- Medical and Rehabilitation Needs of Caregivers of Children with Disability in LMICs -- Developing a Model to Address Caregivers Needs in India -- Discussion -- References -- 16 Quality of Life and Psychosocial Needs of Caregivers of Children with Birth Defects: A Case Study of Haemophilia. Psychosocial Stressors of Haemophilia: A Case Study. |
| Record Nr. | UNINA-9910491025203321 |
| Gateway East, Singapore : , : Springer, , [2021] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Cavernomas of the CNS [[electronic resource] ] : Basic Science to Clinical Practice / / edited by Ondřej Bradáč, Vladimír Beneš
| Cavernomas of the CNS [[electronic resource] ] : Basic Science to Clinical Practice / / edited by Ondřej Bradáč, Vladimír Beneš |
| Edizione | [1st ed. 2020.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020 |
| Descrizione fisica | 1 online resource (VIII, 245 p. 124 illus., 38 illus. in color.) |
| Disciplina | 618.3268 |
| Soggetto topico |
Neurosurgery
Vascular surgery Neurology Vascular Surgery Neurology Cirurgia vascular Malformacions Cervell |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 3-030-49406-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Brief History of Cavernous Malformations -- Definition and structure of cerebral cavernous malformations -- Molecular Biology of CCM -- Presentation -- Neuroimaging of Cerebral Cavernous Malformations -- Natural history of cavernous malformations -- Hemispherical Cavernomas in non-eloquent and eloquent areas -- Cavernoma-Related Epilepsy -- Surgery of deep-seated cavernous malformations -- Surgery of brainstem and cerebellar cavernous malformations -- Stereotactic Radiosurgery of Cavernous Malformations -- Cavernomas in children -- Cavernomas During Pregnancy -- Spinal cavernous malformations -- Intraorbital cavernous malformations. |
| Record Nr. | UNINA-9910416101103321 |
| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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The Chiari Malformations [[electronic resource] /] / edited by R. Shane Tubbs, Mehmet Turgut, W. Jerry Oakes
| The Chiari Malformations [[electronic resource] /] / edited by R. Shane Tubbs, Mehmet Turgut, W. Jerry Oakes |
| Edizione | [2nd ed. 2020.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020 |
| Descrizione fisica | 1 online resource (xix, 627 pages) |
| Disciplina | 616.8047 |
| Soggetto topico |
Neurology
Neurosurgery Surgery Pain medicine Neurology Pain Medicine Cerebel Malformacions Neurocirurgia Neurologia |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 3-030-44862-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Part I: History and Classifications -- 1. A History of the Chiari Malformations -- 2. Defining the Chiari Malformations: Past and Newer Classifications -- 3. Newer Subsets: Chiari 1.5 and Chiari 0 Malformations -- Part II: Embryology and Anatomy -- 4. Embryology of the Craniocervical Junction and Posterior Cranial Fossa -- 5. Embryology and Pathophysiology of the Chiari I and II Malformations -- 6. The Occipital Bone: Review of its Embryology and Molecular Development -- 7. The Proatlas -- 8. Development of the Atlas and its Variations -- 9. The Odontoid Process -- 10. Surgical Anatomy of the Craniocervical Junction Relevant to Chiari Malformations.-Part III: Pathology -- 11. Pathology of Chiari I and II Malformations -- 12. Research on the Pathophysiology of Chiari I-Related Symptoms and Syringomyelia, with Emphasis on Dynamic MRI Techniques -- 13. The Chiari Malformations and Hydrocephalus -- 14. Cerebellar Tonsillar Ischemia and Cysts in the Chiari I Malformation -- 15. Syringomyelia and the Chiari Malformations -- 16. Non-Hindbrain-Related Syringomyelia -- 17. Chiari and Scoliosis -- 18. Associated Bony Malformations and Instability in the Chiari I Malformation.-19. Ventral Decompression for Chiari Malformations -- 20. Chiari I Malformation and Craniosynostosis -- Part IV: Epidemiology, Natural History, and Genetics -- 21. Epidemiology of Chiari I Malformation -- 22. Natural History of Chiari Malformations -- 23. Genetics of the Chiari I and II Malformations -- Part V: Diagnostics -- 24. Electrophysiological Diagnostics in Chiari Malformation -- 25. Radiology -- 26. Measurement of the Volume of the Posterior Cranial Fossa using MRI -- 27. Intraoperative Ultrasound in Chiari Type I Malformation -- 28. Advanced Imaging of Chiari I Malformations -- Part VI: Clinical Presentations -- 29. Clinical Presentation of Pediatric Chiari I Malformations -- 30. Benign Chiari I Malformation -- 31. Unusual Presentations of the Chiari I Malformation -- 32. Clinical Presentation Adult Chiari I -- 33. Acute and Sudden Presentations of the Chiari Malformations -- 34. Associated Disorders of Chiari Type I Malformations -- 35. Association Between Fibromyalgia, Chronic Fatigue, and the Chiari I Malformation -- 36. Symptoms of the Chiari II Malformation -- Part VII: Treatment, Outcomes, and Complications -- 37. Treatment of the Pediatric Chiari I Malformation -- 38. Treatment of the Adult Chiari I Malformation -- 39. Treatment of the Chiari II Malformation -- 40. Chiari Type II Malformation: Reversibility Following Myelomeningocele Closure.-41. Duraplasty Versus Non-dural Opening for the Treatment of Pediatric Chiari Malformation Type I.-42. Chiari Decompression Outcomes Using Ligamentum Nuchae Harvest and Duraplasty in Pediatric Patients with Chiari I Malformation -- 43. Complications of Chiari Surgery -- 44. Secondary Interventions for Chiari I Malformation -- 45. Outcomes for the Surgical Management of Chiari I and Chiari II Malformations -- Part VIII: Miscellaneous -- 46. Chiari-Like Malformation in Dogs -- 47. Experimental Models of Chiari Malformations -- 48. Predictive Analysis in Chiari Type I Malformation -- 49 -- Treatment Costs of Chiari Type I Malformation -- 50. A Multidisciplinary Clinic for the Management of Chiari I Malformations -- 51. Chiari Malformations: a Patient’s Guide -- Part IX: Conclusions -- 52. Conclusions. |
| Record Nr. | UNINA-9910407727003321 |
| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Disorders|differences of sex development : an integrated approach to management / / John M. Hutson, Sonia R. Grover, Michele A. O'Connell, Aurore Bouty, Chloe A. Hanna, editors
| Disorders|differences of sex development : an integrated approach to management / / John M. Hutson, Sonia R. Grover, Michele A. O'Connell, Aurore Bouty, Chloe A. Hanna, editors |
| Edizione | [Second edition] |
| Pubbl/distr/stampa | Singapore : , : Springer Singapore : , : Imprint : Springer, , 2020 |
| Descrizione fisica | 1 online resource (359 pages) |
| Disciplina | 618.928583 |
| Soggetto topico |
Sex differentiation disorders
Sex disorders Human genetics Pediatrics Human Genetics Malformacions Aparell genital Infants |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 981-13-7864-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Current debate about definitions and the incidence of DSD (Disorders of Sex Development) -- The Molecular Basis of Gonadal Development and DSD .-Embryology of the Human Genital Tract -- Hormones Regulating Sex Development -- Questions About Gender: Children with Atypical.-Abnormal Embryology in DSD -- 46,XX DSD -- 46,XY DSD -- Mixed Sex Chromosome and Ovo-Testicular DSD -- Non-hormonal DSD -- Multiple Malformation Syndromes in DSD -- The Neonate with Ambiguous Genitalia -- DSD Later in Childhood -- The Adolescent or Young Adult with DSD -- Imaging in DSD -- Ethical Principles for the Management of Children with Disorders of Sex Development: A Systematic Approach for Individual Cases -- The Medical Management of DSD -- Surgical Treatment in Infancy -- Laparoscopy for DSD -- The Family -- Genetic Counselling -- Cultural Differences and Controversies about Timing of Management -- A Long-Term Outcome Study of DSD in Melbourne -- Medical Management of Adolescents and Young Adults -- Gynaecological Management -- Psychological Management in Adolescence and Beyond -- Short-, Medium- and Long-Term Outcomes Following Surgery for DSD at Royal Children’s Hospital -- Long-Term Outcome of DSD: A World View -- Psychosocial issues and mental health in DSD patients -- Complete Androgen Insensitivity Syndrome: A Guide for Parents and Patients -- Perspectives of patients, families and support groups -- Additional Material .-Video .-Index. |
| Altri titoli varianti | Disorders, differences of sex development |
| Record Nr. | UNINA-9910409685803321 |
| Singapore : , : Springer Singapore : , : Imprint : Springer, , 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Fetal diagnosis and therapy
| Fetal diagnosis and therapy |
| Pubbl/distr/stampa | Basel ; ; New York, : S. Karger, 1991- |
| Descrizione fisica | 1 online resource |
| Soggetto topico |
Prenatal diagnosis
Fetus - Diseases - Diagnosis Fetus - Diseases - Treatment Fetal Diseases - diagnosis Fetal Diseases - therapy Teràpia genètica Malformacions |
| Soggetto genere / forma |
Periodicals.
Fulltext Internet Resources. Periodical Revistes electròniques |
| ISSN | 1421-9964 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Record Nr. | UNISA-996200000803316 |
| Basel ; ; New York, : S. Karger, 1991- | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. di Salerno | ||
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Fetal diagnosis and therapy
| Fetal diagnosis and therapy |
| Pubbl/distr/stampa | Basel ; ; New York, : S. Karger, 1991- |
| Descrizione fisica | 1 online resource |
| Soggetto topico |
Prenatal diagnosis
Fetus - Diseases - Diagnosis Fetus - Diseases - Treatment Fetal Diseases - diagnosis Fetal Diseases - therapy Teràpia genètica Malformacions |
| Soggetto genere / forma |
Periodicals.
Fulltext Internet Resources. Periodical Revistes electròniques |
| ISSN | 1421-9964 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910143124503321 |
| Basel ; ; New York, : S. Karger, 1991- | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Fundamentals of craniofacial malformations . Volume 1 : Disease and diagnostics / / Ulrich Meyer, editor
| Fundamentals of craniofacial malformations . Volume 1 : Disease and diagnostics / / Ulrich Meyer, editor |
| Pubbl/distr/stampa | Cham, Switzerland : , : Springer, , [2021] |
| Descrizione fisica | 1 online resource (394 pages) |
| Disciplina | 617.5107572 |
| Soggetto topico |
Head - Abnormalities
Face - Abnormalities Malformacions Cara Cap Malformacions de l'articulació temporomandibular |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 3-030-46024-X |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Intro -- Foreword -- Preface -- Acknowledgements -- Contents -- About the Editor -- Part I: General Aspects -- 1: The Challenge of Craniofacial Malformation Medicine in Perspective -- 1.1 Craniofacial Malformations in Arts and Media -- 1.2 Craniofacial Malformation and Societal Assessment -- 1.3 The Concept of Beauty -- 1.4 Craniofacial Malformations and Self-Assessment -- 1.5 Parental Involvement -- 1.6 Patient-Physician Communication -- 1.7 History of Facial Plastic, Reconstructive, and Cleft Surgery -- 1.8 The Evolution of Craniofacial Surgery -- 1.9 Future Directions in Craniofacial Surgery and Medicine -- 1.10 The Societal Answer Toward Facially Disfigured Persons -- 1.11 The Core -- References -- 2: Prenatal Diagnosis of Fetal Cranial Anomalies -- 2.1 Introduction -- 2.2 Embryology and Cranial Development -- 2.3 Cranial Anomalies -- 2.3.1 Craniosynostosis -- 2.3.2 Deformational Plagiocephaly -- 2.3.3 Aplasia Cutis Congenita -- 2.3.4 Encephalocele -- 2.4 Prenatal Evaluation and Management -- 2.4.1 Two-Dimensional (2D) and Three-Dimensional Ultrasound -- 2.4.2 Fetal Computed Tomography (CT) -- 2.4.3 Fetal Magnetic Resonance Imaging (MRI) -- 2.4.4 Prenatal Genetic Testing -- 2.4.5 Considerations for Delivery and Management -- 2.5 Conclusion -- References -- 3: Signal Pathways from the Plasma Membrane to the Nucleus Regulating Craniofacial Pattern Formation -- 3.1 Pattern Formation in Human Craniofacial Development -- 3.2 Signaling Pathways Regulating the Patterning and Growth of Facial Primordia -- 3.3 WNT/β-Catenin and Sonic Hedgehog Signaling in Facial Development -- 3.4 The Role of SMAD Proteins in Craniofacial Development -- 3.5 Loss-of-Function STAT3 Mutations in Hyper-IgE Syndrome -- 3.6 Design Principles of STAT3 Signaling -- 3.7 Nonclassical STAT3 Functions in Oxidative Respiration and Naïve Pluripotency.
References -- 4: The Developmental Interrelation Between the Nervous System and Craniofacial Complex as Evidenced from Craniofacial Malformations -- 4.1 Introduction -- 4.2 Development of the Craniofacial Complex -- 4.3 Craniofacial Dysmorphism -- 4.3.1 Dysmorphology -- 4.3.2 Malformations of the Craniofacial Complex -- 4.3.3 Craniofacial Microsomia (CFM) -- 4.4 Oral Clefts -- 4.4.1 Cleft Lip With or Without Cleft Palate -- 4.4.2 Cleft Palate (Isolated Cleft Palate, CPO) -- 4.5 Craniofacial Anomalies Induced by Teratogens -- 4.5.1 Methotrexate Embryopathy -- 4.5.2 Retinoid Embryopathy -- 4.5.3 Cyclophosphamide Embryopathy -- 4.5.4 Mycophenolate Mofetil -- 4.5.5 Valproic Acid (VPA) and Other Antiepileptic Drugs -- 4.5.6 Alcohol (Ethanol) Embryopathy -- 4.5.7 Smoking and Oral Clefts -- 4.6 Craniosynostoses and Primary Abnormalities in the Shape of the Skull -- 4.6.1 Syndromic Craniosynostoses -- 4.6.2 Specific Syndromes -- 4.6.3 Non-syndromic Craniosynostosis -- 4.7 Genetic Syndromes Affecting Extracranial Organs with Craniofacial Manifestations -- 4.8 Anomalies of Dentition and Craniofacial Malformations -- 4.9 Conclusions -- References -- 5: Morphometrics, Optical 3D Imaging, and Monitoring of Craniofacial Development and Malformations -- 5.1 Introduction -- 5.2 Cephalometry -- 5.3 Medical Applications -- 5.4 Scanning Techniques -- 5.4.1 Photogrammetry -- 5.4.2 Structure from Motion (SFM) -- 5.4.3 Structured Light -- 5.4.4 Time-of-Flight Cameras -- 5.4.5 Accuracy -- 5.5 Clinical Application -- 5.5.1 Augmented Reality -- 5.6 Radiological Detection of Facial and Cranial Structures -- 5.7 Symmetry Analysis -- 5.7.1 Cranial Vault Asymmetry Index (CVAI) -- 5.7.2 The 3D Asymmetry Index (3DAI) -- 5.7.3 Landmarks -- 5.8 Shape Analysis -- 5.8.1 Bookstein Coordinates -- 5.8.2 Procrustes Analysis. 5.8.3 Anthropometric Mask -- 5.9 Conclusion -- References -- 6: Classification of Craniofacial Malformations -- 6.1 Introduction -- 6.2 The Development of Classification Systems -- 6.3 Current Concepts of Disease Classification -- 6.4 Genetic Access to Normal and Disturbed Head Formation -- 6.5 Pathogenetic Access to Normal and Disturbed Head Formation -- 6.6 Aspects of Disease-Related Phenotype Documentation -- 6.7 Craniofacial Classification Models -- 6.8 Proposed New Classification System -- References -- Part II: Biological Basis of Disease -- 7: The Biological Basis of Chromosomal and Single Gene Disorders -- 7.1 DNA -- 7.1.1 What Are Chromosomes? -- 7.1.2 Then What Are Genes? Where Are They Located? -- 7.2 Alleles -- 7.2.1 Derivation of Fundamental Laws of Inheritance -- 7.2.2 What Are Genetic Disorders? -- 7.2.3 Single Gene Disorders -- 7.2.4 Mode of Inheritance in Single Gene Disorder -- 7.2.5 Mutations in Single Gene Disorders -- 7.3 Chromosomal Disorders -- 7.3.1 Numerical Abnormalities in Chromosomal Disorders -- 7.3.2 Structural Abnormalities in Chromosomal Disorders -- 7.3.2.1 Balanced Rearrangements -- 7.3.2.2 Unbalanced Rearrangements -- 7.4 Cancer: A Genetic Disease -- 7.4.1 Genetic Factors in Cancer -- 7.4.2 Other Contributing Factors in Cancer -- 7.5 Conclusion -- References -- 8: Fundamental Mechanisms of Orofacial Clefts -- 8.1 Introduction -- 8.2 Genetics and Signaling Mechanisms of Orofacial Clefts -- 8.2.1 Genetics of Nonsyndromic Human Orofacial Clefts and Mechanistic Animal Model Studies -- 8.2.2 Syndromic Human Orofacial Clefts and Mechanistic Animal Model Studies -- 8.2.2.1 Van der Woude Syndrome -- 8.2.2.2 Pierre Robin Sequence -- 8.2.2.3 Chromosome 22. 22q11.2 Deletion Syndrome -- 8.2.2.4 Craniofacial Ciliopathies -- 8.2.2.5 Hedgehog Signaling. 8.3 Essential Nutrients and Orofacial Clefts -- 8.3.1 Dietary Folate -- 8.3.2 Dietary Retinoids -- 8.4 Pharmaceuticals and Orofacial Clefts -- 8.4.1 Pharmaceutical Retinoids -- 8.4.2 Glucocorticoids -- 8.4.3 Anti-epileptic Drugs -- 8.5 Domestic and Occupational Exposures and Orofacial Clefts -- 8.5.1 Solvents -- 8.5.2 Pesticides -- 8.5.3 Dioxins -- 8.5.4 Polychlorinated Biphenyls and Polychlorinated Dibenzofurans -- 8.5.5 Metals -- 8.5.6 Air Pollutants -- 8.6 Parental Behavior, Metabolic Status, and Orofacial Clefts -- 8.6.1 Tobacco Smoking -- 8.6.2 Electronic Nicotine Delivery Systems -- 8.6.3 Alcohol Consumption -- 8.6.4 Metabolic Disease -- 8.7 Geography, Ethnic Influences, and Orofacial Clefts -- 8.8 Pathogens and Orofacial Clefts -- 8.9 Epigenetic Mechanisms of Orofacial Clefts -- 8.9.1 DNA Methylation -- 8.9.2 Histone Modifications -- 8.10 MicroRNAs and Orofacial Clefts -- 8.11 Conclusions and Perspectives -- References -- 9: Biological Basis of Craniosynostosis -- 9.1 Introduction -- 9.2 Syndromic Forms of Primary Craniosynostoses -- 9.2.1 Crouzon Syndrome -- 9.2.2 Apert Syndrome -- 9.2.3 Pfeiffer Syndrome -- 9.2.4 Jackson-Weiss Syndrome -- 9.2.5 Muenke Syndrome -- 9.2.6 Saethre-Chotzen Syndrome -- 9.2.7 Craniofrontonasal Syndrome -- 9.3 Non-syndromic Forms of Primary Craniosynostoses -- 9.4 Secondary Craniosynostoses -- 9.5 Conclusion -- References -- 10: Biological Basis of Branchial Arch Diseases -- 10.1 Introduction -- 10.2 Pathogenesis of Facial Development -- 10.3 Tissue and Organs Involved in Branchial Arch Diseases -- 10.3.1 Anatomical Involvement -- 10.3.1.1 Bones -- 10.3.1.2 Muscles -- 10.3.1.3 Nerves -- 10.3.2 Sensory Organs (Eyes, Ears, Tongue) -- 10.3.2.1 Ears -- 10.3.2.2 Eyes -- 10.3.2.3 Tongue -- 10.4 Branchial Arch Syndromes -- 10.4.1 Treacher Collins syndrome. 10.4.1.1 General -- 10.4.1.2 Epidemiology -- 10.4.1.3 Genetics -- 10.4.1.4 Clinical Manifestation -- 10.4.2 Hemifacial Microsomia/Oculo-auriculo-vertebral Dysplasia with Subtype Goldenhar Syndrome -- 10.4.2.1 General -- 10.4.2.2 Epidemiology -- 10.4.2.3 Genetics -- 10.4.2.4 Clinical Manifestation -- 10.4.3 Auriculocondylar Syndrome -- 10.4.3.1 General -- 10.4.3.2 Epidemiology -- 10.4.3.3 Genetics -- 10.4.3.4 Clinical Manifestation -- 10.4.4 Stickler Syndrome -- 10.4.4.1 General -- 10.4.4.2 Epidemiology -- 10.4.4.3 Genetics -- 10.4.4.4 Clinical Manifestation -- 10.4.5 DiGeorge Syndrome -- 10.4.5.1 General -- 10.4.5.2 Epidemiology -- 10.4.5.3 Genetics -- 10.4.5.4 Clinical Manifestation -- 10.4.6 Pierre Robin Syndrome/Sequence (PRS) -- 10.4.6.1 General -- 10.4.6.2 Epidemiology -- 10.4.6.3 Genetics -- 10.4.6.4 Clinical Manifestation -- 10.4.7 Acrofacial Dysostosis -- 10.4.7.1 Nager Syndrome -- General -- Epidemiology -- Genetics -- Clinical Manifestation -- 10.4.7.2 Miller Syndrome -- General -- Epidemiology -- Genetics -- Clinical Manifestation -- 10.4.7.3 Cincinnati Type -- General -- Epidemiology -- Genetics -- Clinical Manifestation -- References -- 11: The Biological Basis of Craniofacially Conjoined Twins -- 11.1 Introduction -- 11.2 Epidemiology of Conjoined Twins -- 11.3 History of Conjoined Twins (Siamese Twins) -- 11.4 Types of Conjoined Twins -- 11.5 Types of Twinning in the Craniofacial Region -- 11.6 Biology of Conjoined Twinning -- 11.7 Biology of Facial Duplication -- 11.8 Early Diagnostics of Conjoined Twins -- References -- 12: Biological Basis of Craniofacial Soft Tissue Malformations -- 12.1 Introduction -- 12.2 Phakomatoses -- 12.2.1 Nevoid Basal Cell Carcinoma Syndrome (NBCCS, Gorlin-Goltz Syndrome) -- 12.2.2 Neurofibromatosis (NF) -- 12.2.3 Sturge-Weber Syndrome (SWS). 12.2.4 von Hippel-Lindau Disease (VHL). |
| Record Nr. | UNINA-9910488697603321 |
| Cham, Switzerland : , : Springer, , [2021] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Vascular anomalies : a guide for the hematologist/oncologist / / edited by Cameron C. Trenor III, Denise M. Adams
| Vascular anomalies : a guide for the hematologist/oncologist / / edited by Cameron C. Trenor III, Denise M. Adams |
| Edizione | [1st ed. 2020.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020 |
| Descrizione fisica | 1 online resource (XIII, 230 p.) : 90 illus., 50 illus. in color |
| Disciplina | 616.15 |
| Soggetto topico |
Hematology
Oncology Malalties vasculars Malformacions Hematologia Oncologia |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 3-030-25624-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Nomenclature of Vascular Anomalies: Evolution to the ISSVA 2018 Classification System -- Diagnosis of Vascular Anomalies -- The Genetic Basis of Vascular Anomalies -- Sirolimus for the Treatment of Vascular Anomalies -- Infantile and Congenital Hemangiomas: Natural History, Complications, and When and How to Treat -- Kaposiform Hemangioendothelioma and Kasabach-Merritt Phenomenon: Management of Coagulopathy and Treatment Options -- Rare Vascular Tumors -- Capillary Malformations and Associated Syndromes -- Venous Malformations and Associated Syndromes: Diagnosis and Management -- Lymphatic Anomalies -- Arteriovenous Malformation -- Overgrowth Syndromes Associated with Vascular Anomalies -- Hemostasis/Thrombosis Considerations in Vascular Anomalies -- Practice Considerations for the Hematologist/Oncologist in Vascular Anomalies Clinics. |
| Record Nr. | UNINA-9910411940303321 |
| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
