Resultados de búsqueda - congenital disorder

Myelodysplasia and acute myeloid leukemia fifteen years after high-dose cyclophosphamide in a child with severe aplastic anemia por Jaime Pérez, José Carlos, Guerra Leal, Liliana Nataly, Cantú Rodríguez, Olga Graciela, Gómez Almaguer, David

“…It can develop as the result of congenital marrow disease and chemical exposure; however, most cases are idiopathic.1 Treatment with immunosuppressive therapy (IST) for patients who do not have an human leukocyte antigen (HLA)-compatible donor relies on the evidence that a deregulated immune system drives T lymphocytes to cytokine-mediated destruction of their own hematopoietic stem cells.1 The majority of these patients respond well to up-front administration of IST, including antithymocyte globulin (ATG) and cyclosporine (CsA), which is successful in around 80%.2 Unfortunately, ATG and CsA can lead to clonal disorders, in particular myelodysplastic syndrome (MDS) and paroxysmal nocturnal hemoglobinuria…”
Enlace del recurso

Rothmund-Thomson Syndrome: A 13-Year Follow-Up por Guerrero González, Guillermo Antonio, Martínez Cabriales, Sylvia Aideé, Hernández Juárez, Aideé Alejandra, Lugo Trampe, José de Jesús, Espinoza González, Nelly Alejandra, Gómez Flores, Minerva, Ocampo Candiani, Jorge

“…Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder presenting with poikiloderma and other clinical features, affecting the bones and eyes and, in type II RTS, presenting an increased risk for malignancy. …”
Enlace del recurso

Brain Aquaporin 4 in Hyperammonemia por Cauli, Omar

“…In liver failure, congenital enzymopathies of the urea cycle, and other disorders, ammonia may not be properly detoxified and thus hyperammonemia ensues. …”
Enlace del recurso

Impact of NGS in the medical sciences: genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies por Lapunzina, Pablo, López, Rocío Ortiz, Rodríguez Laguna, Lara, García Miguel, Purificación, Martínez, Augusto Rojas, Martínez Glez, Víctor

“…As a result, these new high-throughput technologies have facilitated progress in the understanding and diagnosis of genetic syndromes and cancers, two disorders traditionally considered to be separate diseases but that can share causal genetic alterations in a group of developmental disorders associated with congenital malformations and cancer risk. …”
Enlace del recurso

Further insights in trichothiodistrophy: A clinical, microscopic, and ultrastructural study of 20 cases and literature review por Ferrando, Juan, Mir Bonafé, José M., Cepeda Valdés, Rodrigo, Domínguez, Anna, Ocampo Candiani, Jorge, García Veigas, Javier, Gómez Flores, Minerva, Salas Alanís, Julio César

“…Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. …”
Enlace del recurso