11124nam 2200601 450 991048869760332120230412170120.03-030-46024-X(CKB)5590000000516498(MiAaPQ)EBC6676418(Au-PeEL)EBL6676418(OCoLC)1260344739(PPN)269152814(EXLCZ)99559000000051649820220327d2021 uy 0engurcnu||||||||txtrdacontentcrdamediacrrdacarrierFundamentals of craniofacial malformationsVolume 1 Disease and diagnostics /Ulrich Meyer, editorCham, Switzerland :Springer,[2021]©20211 online resource (394 pages)3-030-46023-1 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).HeadAbnormalitiesFaceAbnormalitiesMalformacionsthubCarathubCapthubMalformacions de l'articulació temporomandibularthubLlibres electrònicsthubHeadAbnormalities.FaceAbnormalities.MalformacionsCaraCapMalformacions de l'articulació temporomandibular617.5107572Meyer UlrichMiAaPQMiAaPQMiAaPQBOOK9910488697603321Fundamentals of Craniofacial Malformations2208898UNINA02723nam 2200613 a 450 991014251780332120240912150049.01-84755-009-61-59124-423-4(CKB)111056552539696(EBL)1185092(SSID)ssj0000071404(PQKBManifestationID)11107171(PQKBTitleCode)TC0000071404(PQKBWorkID)10090249(PQKB)10851982(PPN)198467605(Au-PeEL)EBL7423149(MiAaPQ)EBC1185092(EXLCZ)9911105655253969619981116d1998 uy 0engur|n|---|||||txtccrAir pollution and health /editors, R.E. Hester and R.M. Harrison1st ed.Cambridge Royal Society of Chemistryc19981 online resource (144 p.)Issues in environmental science and technology,1350-7583 ;10Includes index.0-85404-245-8 BK9780854042456-FX001; BK9780854042456-FP001; BK9780854042456-FP005; BK9780854042456-FP007; BK9780854042456-FP009; BK9780854042456-FP011; BK9780854042456-00001; BK9780854042456-00021; BK9780854042456-00033; BK9780854042456-00057; BK9780854042456-00075; BK9780854042456-00101; BK9780854042456-00127The impact of air pollution on human health is currently of international concern. A comprehensive review of the subject is given in this volume, which complements the previous title covering air quality management. Dealing with the common gaseous and particulate air pollutants, including chemical carcinogens, it reviews the epidemiological and exposure chamber study research as well as considering mechanistic studies in the case of particulate matter. Air Pollution and Health also addresses the practical issue of setting standards for human exposure to air pollution by including the philosophIssues in environmental science and technology ;10.AirPollutionHealth aspectsAirPollutionMeasurementAirPollutionStandardsIndoor air pollutionAirPollutionHealth aspects.AirPollutionMeasurement.AirPollutionStandards.Indoor air pollution.363.73922Hester R. E(Ronald E.)855792Harrison Roy M.1948-15997MiAaPQMiAaPQMiAaPQBOOK9910142517803321Air pollution and health4192540UNINA