ABSTRACT
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Subject(s)
Humans , Pediatrics/trends , Paintings , Physician's RoleABSTRACT
Congenital amegakaryocytic thrombocytopenia is an uncommon disorder characterized by an isolated thrombocytopenia due to ineffective megakaryocytopoiesis at birth and the almost complete absence of megakaryocytes in the bone marrow. Mutations in the gene for the thrompoietin receptor MPL were defined as the molecular cause in congenital amegakaryocytic thrombocytopenia patients, developing into a pancytopenia during the first years of life. A case of congenital amegakaryocytic thrombocytopenia with no signs of pancytopenia at the age of 12 years is presented. Mutations were not found in the MPL gene.
Subject(s)
Receptors, Thrombopoietin/genetics , Thrombocytopenia/congenital , Thrombocytopenia/genetics , Thrombopoiesis/physiology , Child , DNA Mutational Analysis , Diagnosis, Differential , Humans , Male , Molecular Biology/methods , Pancytopenia/diagnosis , Point Mutation/genetics , Thrombocytopenia/diagnosisABSTRACT
La trombocitopenia congénita amegacariocítica es una rara enfermedad caracterizada por una trombocitopenia aislada, que tiene su origen en una deficiente megacariocitopoyesis desde el nacimiento, con disminución o ausencia de la presencia de megacariocitos en médula ósea. Mutaciones en el gen MPL, receptor para la trombopoyetina, son la causa molecular de la trombocitopenia congénita amegacariocítica, y dan origen al desarrollo de una pancitopenia en los primeros años de la vida. Se presenta un caso de trombocitopenia congénita amegacariocítica que no ha mostrado signos de pancitopenia a la edad de 12 años. No se hallaron mutaciones en el gen MPL (AU)
Congenital amegakaryocytic thrombocytopenia is an uncommon disorder characterized by an isolated thrombocytopenia due to ineffective megakaryocytopoiesis at birth and the almost complete absence of megakaryocytes in the bone marrow. Mutations in the gene for the thrompoietin receptor MPL were defined as the molecular cause in congenital amegakaryocytic thrombocytopenia patients, developing into a pancytopenia during the first years of life. A case of congenital amegakaryocytic thrombocytopenia with no signs of pancytopenia at the age of 12 years is presented. Mutations were not found in the MPL gene (AU)
Subject(s)
Humans , Male , Child , Thrombocytopenia/congenital , Pancytopenia/diagnosis , Thrombopoiesis/physiology , Megakaryocytes , Thrombopoietin/analysisABSTRACT
Las obras de los artistas pueden ser utilizadas paraincrementar la conciencia de la compleja naturalezade los seres humanos y los condicionantes queyacen bajo sus apariencias. Las artes visuales porlo tanto pueden ser un medio para ayudar a los médicosa progresar en su capacidad interpretativa yen sus dotes de observación. Cuerpos, mentes,emociones y las relaciones que se establecen entreellos, son exploradas y expresadas por medio de lasartes y las humanidades tanto como por la ciencia.La sensibilidad del artista puede ser equivalente alconocimiento del científico, y pudiera ser posibleque ambos se uniesen formando parte de una grany maravillosa fuerza de conocimiento. El niño de Vallecasde Velazquez, es uno de los más conmovedoresretratos de la historia de la pintura, y puedeser una fuente útil para explorar estas capacidadesen una visión de conjunto a través de la pediatría,las humanidades y la historia del arte
Works by artists can be used to increase awaranesso the complex nature of human beings andtheir conditions, wich lie beneath the appearances.The visual arts, therefore can be used to help physiciansin training increase their observational and interpretativeskills. Bodies, minds, emotions, and relationshipsare explored and expressed through thearts and humanities as well as science. The sensitivityof the artist may equal the knowlege of thescientifist, and perhaps in time it will be possible forthem to link together in a great and mervellous forceof knowlege. El niño de Vallecas by Velazquez isone of the most touching portaits of the history painting,a can be a useful source to explore this skills ina overall view through pediatrics, humanities and arthistory
Subject(s)
Art , Medicine in the Arts , Paintings , Famous Persons , Dwarfism/diagnosis , Achondroplasia/diagnosisABSTRACT
Eosinophilic gastroenteritis is an uncommon chronic disease, of unknown cause, characterized by eosinophilic infiltration of the gastrointestinal tract, which is usually associated with peripheral blood eosinophilia. The symptoms of this complex disorder are variable, and frequently include abdominal pain, nausea, diarrhea, protein losing enteropathy and malabsorption. In general, patients can be successfully treated with corticosteroids, but relapses are common. We present the first case of a 6-year-old boy with Albright's hereditary osteodystrophy (Pseudohypoparathyroidism Ia) associated with eosinophilic gastroenteritis. Alternatives to traditional treatment with corticosteroids are discussed.
Subject(s)
Eosinophils/pathology , Fibrous Dysplasia, Polyostotic/complications , Gastroenteritis/complications , Gastroenteritis/pathology , Child , Gastroenteritis/blood , Humans , Male , Mucous Membrane/pathology , Pseudohypoparathyroidism/complications , Pseudohypoparathyroidism/diagnosisABSTRACT
La gastroenteritis eosinofílica es una rara enfermedad crónica, de causa desconocida, caracterizada por la infiltración del tracto gastrointestinal por leucocitos eosinófilos, que habitualmente se acompaña de eosinofilia en sangre periférica. Esta compleja enfermedad desarrolla síntomas variables, con frecuencia dolor abdominal, náuseas, diarrea, enteropatía con pérdida proteínica y malabsorción. En general, los pacientes pueden ser tratados satisfactoriamente con corticoides, pero son posibles las recidivas. Se presenta el primer caso de un paciente de 6 años afectado de osteodistrofia hereditaria de Albright (seudohipoparatiroidismo Ia) asociado a gastroenteritis eosinofílica, y se discuten las alternativas al tratamiento tradicional con corticoides (AU)
Subject(s)
Child , Male , Humans , Mucous Membrane , Pseudohypoparathyroidism , Eosinophils , Gastroenteritis , Fibrous Dysplasia, PolyostoticABSTRACT
Studies to detect mutations in the GNAS1 gene were performed in a male patient with features of Albright hereditary osteodystrophy and resistance of target tissues to parathyroid hormone (Pseudohypoparathyroidism Ia). The same investigations were carried out in the patient's mother who showed somatic features of Albright's hereditary osteodystrophy and brachymetacarpia without resistance to parathyroid hormone (Pseudopseudohypoparathyroidism). A point mutation designated c.794GA (R265H) in exon 10 of GNAS1 was identified in DNA from the patient and his mother. This novel mutation in exon 10 of GNA
Subject(s)
Fibrous Dysplasia, Polyostotic/genetics , Mutation , Child, Preschool , GTP-Binding Protein alpha Subunits, Gs/genetics , Humans , MaleABSTRACT
Se estudian las mutaciones en el gen GNAS1, en un paciente con alteraciones somáticas propias de osteodistrofia hereditaria de Albright y resistencia en los efectores hísticos a la hormona paratiroidea (seudohipoparatiroidismo Ia), y en su madre solamente con alteraciones somáticas y braquimetacarpia (seudoseudohipoparatiroidismo). Se identifica una mutación designada 794G. A en el exón 10 del gen GNAS1, en el ADN del paciente y de su madre. Esta mutación original en el exón 10 del gen GNAS1, es patogénica y confirma el diagnóstico de osteodistrofia hereditaria de Albright (AU)
Subject(s)
Child, Preschool , Male , Humans , Mutation , GTP-Binding Protein alpha Subunits, Gs , Fibrous Dysplasia, PolyostoticABSTRACT
OBJECTIVE: To evaluate through MR the presence or absence of the normal hyper-intense signal of the posterior pituitary lobe in four patients diagnosed of familial central diabetes insipidus. PATIENTS AND METHODS: The posterior pituitary lobe was studied by magnetic resonance imaging in four patients, three children and one adult, diagnosed of familiar central diabetes insipidus. RESULTS: In none of the four patients could the normal posterior bright signal be detected. CONCLUSION: The normal hyper-intense MR image of the neurohypophysis is suggested to reflect its function and its absence is frequent in patients diagnosed of familial central diabetes insipidus.
