Fetal and pediatric pathology
-
Primary cutaneous Ewing's sarcoma is a rare entity. Although the diagnosis may be very difficult, it can be confirmed through molecular biology. ⋯ This neoplasm must be distinguished from other round cell tumors with cutaneous involvement. The prognosis and treatment of this rare disease will also be discussed.
-
Fetal Pediatr Pathol · Feb 2014
Mesenchymal stem cells from pediatric patients with aplastic anemia: isolation, characterization, adipogenic, and osteogenic differentiation.
Aplastic anemia is a syndrome of bone marrow (BM) failure characterized by peripheral pancytopenia and marrow hypoplasia. Its exact pathophysiology is still not clear. Mesenchymal stem cells (MSCs) play an important role in providing the specialized BM microenvironment for hematopoietic stem cells survival and differentiation. ⋯ MSCs from aplastic anemia patients and controls shared similar spindle-shaped morphology and surface marker expression. MSCs derived from patients with aplastic anemia showed lower viability (74.2 ± 4.44% vs. 97.0 ± 1.58, p < 0.0001) and slower expansion rate as indicated by smaller population doubling and smaller cumulative population doubling from passages 1 to 4 (0.70 ± 0.22 vs. 2.34 ± 0.84; p = 0.009). Besides, aplastic anemia MSCs had poor capacity to differentiate into adipocytic and osteocytic lineages.
-
To investigate the frequency, circumstances, demographics and autopsy findings of infants and children dying as a result of foreign body aspiration. ⋯ Fatal aspiration of a foreign body is rare in this population. The cases involve normal children who aspirate food, particularly grapes. There are typically minimal, non-specific findings at autopsy.
-
Fetal Pediatr Pathol · Feb 2014
Proportionate reduction in uncertainty of late onset infection in pre-term infants by neutrophil CD64 measurement.
Establish how neutrophil CD64 performs as a marker of definite infection in pre-term infants in comparison to C reactive protein (CRP) and procalcitonin (PCT). ⋯ The CD64 appears to be a useful point of care test (POCT) for further defining the likelihood of infection and performs better than CRP or PCT at helping to rule in infection.
-
Fetal Pediatr Pathol · Oct 2013
Case ReportsOsteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.
Osteogenesis imperfecta is a rare connective tissue disorder characterized by bone fragility and low bone density. Most cases are caused by an autosomal dominant mutation in either COL1A1 or COL1A2 gene encoding type I collagen. ⋯ We present a patient with severe respiratory distress due to osteogenesis imperfecta simulating type II, born to a non-consanguineous couple with mixed African-American and African-Hispanic ethnicity. Cultured skin fibroblasts demonstrated compound heterozygosity for mutations in the LEPRE1 gene encoding prolyl 3-hydroxylase 1 confirming the diagnosis of autosomal recessive osteogenesis imperfecta type VIII, perinatal lethal type.