Special Pathology: Pediatric Pathology and Genetics

Special Pathology: Pediatric Pathology and Genetics — Expert Reference

How it begins

Estudio exhaustivo de la patología específica del paciente pediátrico, desde la enfermedad perinatal hasta la oncología infantil, integrado con los fundamentos de la patología genética: cromosomopatías, enfermedades monogénicas, errores innatos del metabolismo y herencia no mendeliana.

What it covers

1. The Pediatric Patient: A Being in Development
2. · Epidemiology of Infant Mortality
3. Developmental Stages and Physiopathological Particularities
4. · Key Physiological Differences of the Neonate
5. Perinatal and Neonatal Pathology
6. · 3.1 Prematurity
7. · 3.2 Neonatal Respiratory Distress Syndrome (RDS) / Hyaline Membrane Disease (HME)
8. · 3.3 Necrotizing Enterocolitis (NEC)
9. · 3.4 Neonatal Jaundice and Hyperbilirubinemia
10. · 3.5 Congenital Infections: TORCH
11. · 3.6 Neonatal Sepsis
12. Congenital Malformations and Developmental Errors
13. · 4.1 Etiology and Etiopathogenic Classification
14. · 4.2 Nomenclature of Developmental Errors
15. · 4.3 Sequences, Syndromes and Associations
16. Pediatric Oncology: Childhood Tumors
17. · 5.1 Wilms tumor (Nephroblastoma)
18. · 5.2 Neuroblastoma
19. · 5.3 Retinoblastoma
20. · 5.4 Pediatric Acute Lymphoblastic Leukemia (ALL)
21. · 5.5 Medulloblastoma
22. · 5.6 Other Key Pediatric Tumors
23. Fundamentals of Genetic Pathology
24. · 6.1 Types of Mutations and Their Pathological Consequences
25. · 6.2 Mendelian Inheritance Patterns
26. Non-Mendelian Inheritance
27. · 7.1 Genomic Imprinting
28. · 7.2 Mitochondrial Inheritance
29. · 7.3 Genetic Anticipation
30. Numerical Chromosomopathies (Aneuploidies)
31. · 8.1 Down Syndrome (Trisomy 21)
32. · 8.2 Edwards Syndrome (Trisomy 18)
33. · 8.3 Patau Syndrome (Trisomy 13)
34. · 8.4 Turner syndrome (45,X)
35. · 8.5 Klinefelter syndrome (47,XXY)
36. Structural Chromosomopathies
37. · 9.1 22q11.2 Deletion Syndrome (DiGeorge/Velocardiofacial Syndrome)
38. · 9.2 Prader-Willi and Angelman (see §7.1)
39. · 9.3 Williams-Beuren syndrome
40. · 9.4 Other Recurrent Deletions and Duplications
41. Major Autosomal Dominant Diseases
42. · 10.1 Marfan syndrome
43. · 10.2 Neurofibromatosis Type 1 (NF1) — von Recklinghausen disease
44. · 10.3 Huntington's disease
45. · 10.4 Achondroplasia
46. Major Autosomal Recessive Diseases
47. · 11.1 Cystic Fibrosis (CF)
48. · 11.2 Phenylketonuria (PKU) and Aminoacidopathies
49. · 11.3 Hemoglobinopathies
50. Diseases Linked to the X Chromosome
51. · 12.1 Duchenne Muscular Dystrophy (DMD)
52. · 12.2 Hemophilia A and B
53. · 12.3 Fragile X Syndrome (FRAXA)
54. Inborn Errors of Metabolism (EIM)
55. · 13.1 Lysosomal Storage Diseases (LDS)
56. · 13.2 Peroxisomal Diseases
57. · 13.3 Mitochondrial Diseases (due to Nuclear DNA Mutations)
58. · 13.4 Glycogenosis (Glycogen Storage Diseases, GSD)
59. · 13.5 Mucopolysaccharidosis (MPS)
60. Prenatal Diagnosis and Neonatal Screening
61. · 14.1 Prenatal Screening for Chromosomopathies
62. · 14.2 Neonatal Screening (Heel Test)
63. Gene Therapy and Precision Medicine in Pediatrics
64. · 15.1 Gene Replacement Therapy (Gene Augmentation)
65. · 15.2 Genome Editing: CRISPR-Cas9 and Variants
66. · 15.3 Antisense Oligonucleotides (ASOs) and Interference RNA (siRNA/saRNA)
67. Glossary of Essential Terms
68. Select Reference Bibliography
69. · Fundamental Texts
70. · Seminal Articles and Key Reviews