Developmental neuropathology

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Yazar:

Adle-Biassette, Homa, editor.

ISBN:

9781119013099

9781119013105

9781119013112

Basım Bilgisi:

Second edition.

Fiziksel Tanımlama:

1 online resource

İçerik:

Intro; Developmental Neuropathology; Contents; List of Contributors; Introduction; 1 Central Nervous System Manifestations of Chromosomal Change; Introduction; The craniofacial complex; Genetic counseling and the neuropathologist; Autosomal trisomy; Trisomy 8; Trisomy 9; Trisomy 13; Trisomy 18; Trisomy 21; Other autosomal aneuploidies; Triploidy; Tetraploidy; Sex chromosome aneuploidy; Deletions; Deletion 3p-; Deletion 4p-; Deletion 5p-; Deletion 9p-; Deletion 11q-; Deletion 13q-; Deletion 18p-; Deletion 18q-; Deletion 21q-; Duplications; Duplication 3q+; Duplication 9p+

Future perspective, conclusionsReferences; 2 Neural Tube Defects; Definition; Normal embryology; Neural tube closure; Development of the skull and vertebral column; Secondary neurulation within the tail bud; Epidemiology; Prevalence; Sex distribution; Non-genetic risk factors; Clinical features; Clinical presentation; Biochemistry and prenatal diagnosis; Differential diagnosis; Pathology; Neural tube closure disorders; Axial mesodermal defects with herniation of the neural tube; Spinal dysraphism: defects of tail bud development; Genetics; Human genetic studies; Mouse genetic studies.

Genetics of occipital encephaloceleAnimal models and pathogenesis; Craniorachischisis; Exencephaly; Myelomeningocele; Treatment, future directions and conclusions; Surgical treatment; Primary prevention; References; 3 Midline Patterning Defects; Definition of the disorder, major synonyms and historical perspective; Embryology of forebrain patterning; Holoprosencephaly; Definition; Synonyms and historical annotations; Epidemiology; Incidence; Genetics; Clinical features including appropriate investigations; Pathology; Pathogenesis and experimental models; Future directions and therapy.

Atelencephaly and aprosencephalyDefinition and synonyms; Genetics; Pathology; Pathogenesis; Agenesis of the corpus callosum; Definition and epidemiology; Genetics; Clinical features including appropriate investigations; Pathology; Differential diagnosis; Embryology, pathogenesis and experimental models; Septo-optic dysplasia; Definition and synonyms; Genetics; Clinical features; Pathology; Differential diagnosis; Embryology, pathogenesis and experimental models; Other midline patterning defects; References; 4 Microcephaly; Definitions, major synonyms and historical perspective.

Normal embryologyEpidemiology; Clinical features; Imaging; Genetics; Autosomal recessive primary microcephaly; Dwarfism associated with microcephaly and DNA repair deficiency syndromes; Chromosomal structural microcephalies; Monogenic syndromic microcephalies; Metabolic microcephalies; Neuropathology; Differential diagnosis; Animal models and pathogenesis; Treatment, future perspectives, conclusions; References; 5 Hemimegalencephaly and Dysplastic Megalencephaly; Definition and synonyms; Epidemiology and genetics; Clinical features and differential diagnosis; Clinical examination.

Özet:

A definitive, clinically oriented guide to the pathology of genetics of developmental neuropathology Developmental neuropathology relates to the wide range of disorders affecting the developing brain or pre- and post-natal life, with emphasis on the genetic and molecular mechanisms involved. This book provides a practical guide to diagnosing and understanding these disorders affecting this vulnerable population and potentially stimulates further advances in this exciting area. It also addresses the controversies in inflicted head injury in infants. The fourth major title to be approved by the International Society of Neuropathology (ISN), Developmental Neuropathology offers in-depth chapter coverage of brain development; chromosomal changes; malformations; secondary malformations and destructive pathologies; developmental vascular disorders; acquired metabolic and exogenous toxins; metabolic disorders; Rett syndrome and autism; and infectious diseases. The text provides: * Clinical, disease-oriented approach to the pathology and genetics developmental neuropathology * Fuses classical and contemporary investigative approaches * Includes genetic and molecular biological pathogeneses * Fully illustrated * Approved and endorsed by International Society of Neuropathology Developmental Neuropathology is the perfect book for practicing neuropathologists, pediatric pathologists, general pathologists, neurologists, and geneticists in deciphering the pathology and pathogenesis of these complex disorders affecting the nervous system of the embryo, fetus, and child.

Notlar:

John Wiley and Sons

Konu Terimleri:

Nervous system -- Diseases.

Developmental neurobiology.

Central Nervous System Diseases -- genetics

Central Nervous System Diseases -- pathology

Genetic Diseases, Inborn -- pathology

Nervous System Malformations -- pathology

Nervous System Diseases

Système nerveux -- Maladies.

Neurologie du développement.