RESUMO
Two siblings from a Mexican family who carried lethal Raine syndrome are presented. A newborn term male (case 1) and his 21 gestational week brother (case 2), with a similar osteosclerotic pattern: generalized osteosclerosis, which is more evident in facial bones and cranial base. Prenatal findings at 21 weeks and histopathological features for case 2 are described. A novel combination of biallelic FAM20C pathogenic variants were detected, a maternal cytosine duplication at position 456 and a paternal deletion of a cytosine in position 474 in exon 1, which change the reading frame with a premature termination at codon 207 and 185 respectively. These changes are in concordance with a negative detection of the protein in liver and kidney as shown in case 2. Necropsy showed absence of pancreatic Langerhans Islets, which are reported here for the first time. Corpus callosum absence is added to the few reported cases of brain defects in Raine syndrome. This report shows two new FAM20C variants not described previously, and negative protein detection in the liver and the kidney. We highlight that lethal Raine syndrome is well defined as early as 21 weeks, including mineralization defects and craniofacial features. Pancreas and brain defects found here in FAM20C deficiency extend the functional spectrum of this protein to previously unknown organs.
Assuntos
Anormalidades Múltiplas/genética , Caseína Quinase I/genética , Fissura Palatina/genética , Exoftalmia/genética , Proteínas da Matriz Extracelular/genética , Microcefalia/genética , Osteosclerose/genética , Anormalidades Múltiplas/metabolismo , Doenças do Desenvolvimento Ósseo , Caseína Quinase I/metabolismo , Fissura Palatina/metabolismo , Cisteína/genética , Exoftalmia/metabolismo , Proteínas da Matriz Extracelular/metabolismo , Família , Feminino , Humanos , Recém-Nascido , Ilhotas Pancreáticas/patologia , Rim/patologia , Fígado/patologia , Masculino , Microcefalia/metabolismo , Mutação , Osteosclerose/metabolismo , Linhagem , Fenótipo , Polimorfismo Genético/genéticaRESUMO
Las deformidades congénitas más frecuentes de la pared torácica son pectus excavatum (TI), pectus carinatum (TQ) y esternón hendido, cuyo tratamiento es quirúrgico. Objetivo: describir la técnica de la cirugía mínimamente invasiva para la corrección de los dos primeros defectos y la experiencia en el Hospital Infantil Universitario de San José Bogotá DC, de 2008 a 2011. Materiales y métodos: reporte de nueve pacientes con pectus carinatum y pectus excavatum, evaluación prequirúrgica, intervención quirúrgica y valoración postquirúrgica, analizando los resultados funcionales y estéticos, con seguimiento de doce meses. Resultados: edad promedio 10.8 años (DE: 1,2 años), cinco hombres, cuatro mujeres; seis pectus excavatum y tres pectus carinatum. En promedio el índice de Haller fue 3,75 (DE: 0,5), el tiempo operatorio 173 minutos (DE: 51,9 min) y la estancia hospitalaria cinco días (DE: 3,6). Hubo una complicación: (desplazamiento de la barra) y en el seguimiento los pacientes estuvieron asintomáticos y satisfechos con el tratamiento. Conclusiones: la experiencia muestra reducción del tiempo operatorio y de la estancia hospitalaria, con complicaciones menores y resultados clínicopsicológicos satisfactorios...
The most frequent congenital thoracic wall deformities are pectus excavatum (PE), pectus carinatum (PC) and sternal clefts, in which surgical treatment is recommended. Objective: to describe the minimally invasive surgical technique used to correct the first two deformities named and experience on patients operated on by this technique at Hospital Infantil Universitario de San José Bogotá DC, from 2008 to 2011. Materials and Methods: report on nine patients with pectus carinatum and pectus excavatum, preoperative evaluation, surgical procedure and post-operative evaluation analyzing functional and aesthetic results through a 12-month follow-up. Results: mean age 10.8 years (SD: 1.2 years), five males, four females; six pectus excavatum and three pectus carinatum. The mean Haller index was 3.75 (SD: 0.5), operating time: 173 minutes (SD: 51.9 min) and hospital stay: five days (SD: 3.6). There was one complication: (bar displacement) and patients were asymptomatic and satisfied with the treatment at follow-up. Conclusions: experience shows reduction of length of operating time and hospital stay with minor complications and satisfactory clinical and psychological results...
Assuntos
Humanos , Tórax em Funil , Parede Torácica , Procedimentos Cirúrgicos Minimamente Invasivos , ToracoscopiaRESUMO
Dolabelladienotriol is a product extracted from the brown marine alga Dictyota pfaffii from Brazil that has been shown to have antiviral activity and low cytotoxicity. Our studies have evaluated the acute toxicity of dolabelladienotriol in BALB/c mice for ten days after administration of a single dose. Among the parameters considered were behavior, weight, biochemical and histological analyses of blood samples taken at three different times (Bs.0, Bs.1 and Bs.2) and optical microscopic examination of organs like liver, kidney, stomach and small intestine. Mice deaths were not observed at any dose during the ten day period. There were some changes in the biochemical analysis results for urea nitrogen (BUN) and alanine aminotransferase (ALT), but the changes were not significantly different from the reference levels of the animals before administration of the substance. Histological analyses of tissues were very similar for all animals. The alterations in liver and kidney tissues did not affect the animals´ behavior at any concentration, not even at 50 mg/kg, where the most significant changes in tissues were seen. This study indicates that dolabelladienotriol has low toxicity in administered dose range.