ABSTRACT
Autopsy reports for 29 very preterm infants dying at <28 days of age were reviewed. New findings were discovered in 79% and resulted in a significant change in diagnoses in 28%. Iatrogenic lesions were identified in 41% of cases and were the main cause of death in 14%.
Subject(s)
Autopsy , Cause of Death , Infant, Premature , Birth Weight , Diagnostic Errors , Female , Gestational Age , Humans , Iatrogenic Disease , Infant, Newborn , Intensive Care Units, Neonatal , Male , Medical AuditSubject(s)
Mucocutaneous Lymph Node Syndrome/diagnosis , Sudden Infant Death/etiology , Coronary Aneurysm/etiology , Coronary Aneurysm/pathology , Coronary Thrombosis/etiology , Coronary Thrombosis/pathology , Coronary Vessels/pathology , Humans , Infant , Male , Mucocutaneous Lymph Node Syndrome/complications , Myocardium/pathologyABSTRACT
This histological study of endocardial thickening in human hearts revealed that as in adult hearts, the proliferation in fetal, neonatal, and infant hearts consisted of collagen, elastin, and smooth muscle cells. Variation in severity from chamber to chamber and site to site indicated that severity is not an aging phenomenon and that predominantly local blood flow conditions determine localization and progression of proliferation. The similarity to endocardial thickening of cardiac valves and to intimal proliferation in blood vessels was remarkable. In old age and in chronic rheumatic heart disease the proliferation exhibited hyalinization, cell depletion, loss and fragmentation of elastin, lipid accumulation, and thrombosis, indicative of a similar pathogenesis to atherosclerotic changes in valvular endocardium and blood vessels. It was concluded that these chronic hemodynamically induced degenerative changes in the endocardium, including cardiac valves, should be classified as endocardial atherosclerosis analogous to that in arteries and veins and that severity is aggravated by high blood pressure, cardiac malformations, and dysfunction or damage caused by other disease processes.
Subject(s)
Endocardium/pathology , Adolescent , Adult , Aged , Aged, 80 and over , Diagnosis, Differential , Endocardial Fibroelastosis/pathology , Endomyocardial Fibrosis/pathology , Fetus , Gestational Age , Heart Valves/pathology , Humans , Infant , Infant, Newborn , Middle Aged , Sclerosis/pathologyABSTRACT
The caterpillar chromatin pattern of the nucleus in longitudinal section and owl-eye appearance in transverse section characterize the Anitschkow cell of Aschoff bodies in rheumatic heart disease. Determining whether it is of muscle origin or cardiac histiocyte has been a source of controversy for many years. In a study of fetal and neonatal hearts from humans, vesicular nuclei often displaying the Anitschkow chromatin pattern were the predominant cell type in the myocardium. Because a similar pattern was also observed in two cell types related to laryngeal cartilage and the neighbouring fibrous tissue in a six week old neonate, it was concluded that the Anitschkow chromatin pattern probably indicates cellular immaturity rather than any specific cell type.
Subject(s)
Histiocytes/cytology , Muscles/cytology , Myocardium/cytology , Rheumatic Nodule/pathology , Cell Nucleus/ultrastructure , Chromatin/pathology , Fetus , Heart/embryology , Humans , Infant, Newborn , Larynx/cytologyABSTRACT
A family is described in which three males have been affected by congenital valvular dysplasia of one or more heart valves, in one case leading to neonatal death. The pedigree is consistent with sex linked inheritance.
Subject(s)
Heart Defects, Congenital/genetics , Heart Valve Diseases/congenital , X Chromosome , Adult , Genes, Recessive , Genetic Linkage , Heart Valve Diseases/genetics , Humans , Infant, Newborn , Male , Mutation , Sex Chromosome Aberrations , Ventricular Outflow Obstruction/congenital , Ventricular Outflow Obstruction/geneticsABSTRACT
The clinical and radiological features in a baby thought to have Blomstrand chondrodysplasia are presented. The hallmarks of this rare lethal disorder are an increase in bone density and advanced skeletal maturation. A high incidence of parental consanguinity is consistent with autosomal recessive inheritance.
Subject(s)
Osteochondrodysplasias/genetics , Bone Density , Bone Development , Consanguinity , Dwarfism/genetics , Dwarfism/pathology , Female , Genes, Recessive , Humans , Infant, Newborn , Osteochondrodysplasias/pathologyABSTRACT
A male infant with lethal short limbed dwarfism is described. His father had spondyloepiphyseal dysplasia congenita and his mother had achondroplasia. It is believed that the infant inherited both of these disorders and that their combined effects resulted in early death owing primarily to severe pulmonary hypoplasia.
Subject(s)
Achondroplasia/genetics , Osteochondrodysplasias/genetics , Achondroplasia/congenital , Dwarfism/genetics , Heterozygote , Humans , Infant, Newborn , Male , Osteochondrodysplasias/congenital , Respiratory Distress Syndrome, Newborn/geneticsABSTRACT
A phenotypically female fetus with campomelic dysplasia and a de novo reciprocal translocation, 46,XY,t(2;17) (q35;q23-24), is presented. This is the second case of campomelic dysplasia in which a rearrangement involving the long arm of chromosome 17 has been identified, indicating that this is likely to be the site of the campomelic dysplasia locus.
