64 research outputs found
Transperitoneal laparoscopic adrenalectomy for metachronous contralateral adrenal metastasis from renal cell carcinoma: a case report
Proceso de elicitación de requerimientos para la construcción de modelos predictivos basados en sistemas inteligentes
¿Cuál opción es la más favorable? ¿Qué nos deparará a futuro? Estas son preguntas que nos hacemos cada vez que tenemos que tomar alguna decisión. Por esta razón, contar con mecanismos que permitan realizar predicciones acertadas es algo que la Humanidad siempre ha querido. Dicha necesidad no es propia únicamente de los individuos y también impacta en las organizaciones. Teniendo en cuenta estas cuestiones, el presente proyecto propone el desarrollo de un proceso que a partir de los deseos y necesidades de una organización, asista a la elicitación de los requerimientos para implementar exitosamente un Modelo Predictivo basado en Sistemas Inteligentes.Eje: Agentes y Sistemas Inteligentes.Red de Universidades con Carreras en Informática (RedUNCI
Holoprosencephaly
Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and the 28th day of gestation and affecting both the forebrain and the face. It is estimated to occur in 1/16,000 live births and 1/250 conceptuses. Three ranges of increasing severity are described: lobar, semi-lobar and alobar HPE. Another milder subtype of HPE called middle interhemispheric variant (MIHF) or syntelencephaly is also reported. In most of the cases, facial anomalies are observed in HPE, like cyclopia, proboscis, median or bilateral cleft lip/palate in severe forms, ocular hypotelorism or solitary median maxillary central incisor in minor forms. These latter midline defects can occur without the cerebral malformations and then are called microforms. Children with HPE have many medical problems: developmental delay and feeding difficulties, epilepsy, instability of temperature, heart rate and respiration. Endocrine disorders like diabetes insipidus, adrenal hypoplasia, hypogonadism, thyroid hypoplasia and growth hormone deficiency are frequent. To date, seven genes have been positively implicated in HPE: Sonic hedgehog (SHH), ZIC2, SIX3, TGIF, PTCH, GLI2 and TDGF1. A molecular diagnosis can be performed by gene sequencing and allele quantification for the four main genes SHH, ZIC2, SIX3 and TGIF. Major rearrangements of the subtelomeres can also be identified by multiplex ligation-dependent probe amplification (MLPA). Nevertheless, in about 70% of cases, the molecular basis of the disease remains unknown, suggesting the existence of several other candidate genes or environmental factors. Consequently, a "multiple-hit hypothesis" of genetic and/or environmental factors (like maternal diabetes) has been proposed to account for the extreme clinical variability. In a practical approach, prenatal diagnosis is based on ultrasound and magnetic resonance imaging (MRI) rather than on molecular diagnosis. Treatment is symptomatic and supportive, and requires a multidisciplinary management. Child outcome depends on the HPE severity and the medical and neurological complications associated. Severely affected children have a very poor prognosis. Mildly affected children may exhibit few symptoms and may live a normal life
Contralateral Adrenal Metastasis of Renal Cell Carcinoma Arising From a Horseshoe Kidney: An Initial Case Report
Prenatal diagnosis of lobar holoprosencephaly using color Doppler: three cases with the anterior cerebral artery crawling under the skull
High-dose lorazepam for convulsive status epilepticus in an infant with holoprosencephaly
Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
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