RESUMO
ABSTRACT: Soft tissue lesions of the eyebrow are common and are usually diagnosed as dermoid cysts, pilomatrixomas, inclusion cysts, or basal cell carcinomas. Pleomorphic adenomas are benign glandular lesions most commonly found in the parotid gland or salivary glands, and less commonly found in the lacrimal gland. Here the authors report the case of a 35-year-old male who presented with a prominent soft tissue lesion of his right upper brow. This had been present for several months and had not substantially changed in size. Operative excision was performed via a supratarsal crease incision. The mass was located in a deep, periosteal plane, similar to a dermoid cyst. Final pathology demonstrated a 1.1â×â1.0â×â0.9âcm pleomorphic adenoma without defining characteristics of either the lacrimal gland or the minor adnexal glands of the skin or subcutaneous tissue. The authors reviewed the current literature on unusual lesions of the periorbital and brow regions, and the authors present aggregate data regarding epidemiology, diagnosis, and management.
Assuntos
Adenoma Pleomorfo , Cisto Epidérmico , Aparelho Lacrimal , Adenoma Pleomorfo/cirurgia , Adulto , Cisto Epidérmico/patologia , Sobrancelhas/patologia , Humanos , Aparelho Lacrimal/patologia , Masculino , Glândula Parótida/patologiaRESUMO
Septal agenesis is a rare cerebral developmental anomaly characterized by partial or complete absence of the septum pellucidum (ASP). Septal agenesis may be associated with various congenital brain malformations, namely holoprosencephaly, septooptic dysplasia (SOD), schizencephaly or agenesis of the corpus callosum. Current imaging technologies do not enable differentiation in utero between isolated ASP and SOD. This is due to the fact that optic nerve hypoplasia and endocrine anomalies are never ruled out completely. We report a case of prenatal diagnosis of isolated ASP based on 2D and 3D ultrasound and fetal MRI. Postnatal MRI confirmed prenatal findings and the boy is currently doing well at 18 months of age.
Assuntos
Diagnóstico Pré-Natal , Displasia Septo-Óptica/diagnóstico , Septo Pelúcido/embriologia , Adulto , Diagnóstico Diferencial , Ecoencefalografia , Feminino , Humanos , Imageamento Tridimensional , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Gravidez , Segundo Trimestre da Gravidez , Displasia Septo-Óptica/diagnóstico por imagem , Displasia Septo-Óptica/embriologia , Displasia Septo-Óptica/patologia , Septo Pelúcido/diagnóstico por imagem , Septo Pelúcido/patologia , Nascimento a Termo , Vias Visuais/diagnóstico por imagem , Vias Visuais/embriologia , Vias Visuais/patologia , Adulto JovemRESUMO
Hemimegalencephaly (HME) is a developmental abnormality of the central nervous system (CNS) which may present as either a syndromic or isolated case. Here, we present two cases of early prenatal diagnosis of HME. Prenatal CNS ultrasound and MRI in the first case revealed ventricular asymmetry, midline shift with displacement of the occipital lobe across the midline, large dilatation mainly at the posterior horn of the left lateral ventricle, and a head circumference in the 90th percentile without involvement of the brain stem and cerebellum, as well as abdominal lymphangioma. Right hemispherectomy was performed at 3 months of age due to intractable seizures. The pathological specimen showed findings characteristic of HME, including a disorganized cytoarchitecture with lack of neuronal lamination, focal areas of polymicrogyria, and neuronal heterotopias with dysplastic cells. In the second case, 2D and 3D neurosonography demonstrated similar findings (asymmetry of cerebral hemispheres, midline shift, and dilation of the posterior horn of the left lateral cerebral ventricle). Posterior fossa structures were unremarkable. HME was diagnosed and the pregnancy was terminated. Autopsy findings confirmed the diagnosis of HME.
Assuntos
Doenças Fetais/diagnóstico por imagem , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Ecoencefalografia , Feminino , Hemisferectomia , Humanos , Imageamento por Ressonância Magnética , Malformações do Desenvolvimento Cortical/patologia , Malformações do Desenvolvimento Cortical/cirurgia , Gravidez , Segundo Trimestre da Gravidez , Resultado do TratamentoRESUMO
We report a neonate with antenatal imaging features suggestive of CLOVES syndrome. Postnatal clinical and imaging findings confirmed the diagnosis, with the constellation of truncal overgrowth, cutaneous capillary malformation, lymphatic and musculoskeletal anomalies. The clinical, radiological and histopathological findings noted in this particular phenotype help differentiate it from other overgrowth syndromes with complex vascular anomalies.
Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Recém-Nascido , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Malformações Vasculares/diagnóstico por imagem , Assimetria Facial/complicações , Humanos , Anormalidades Musculoesqueléticas/complicações , Mancha Vinho do Porto/complicações , Radiografia , Síndrome , Malformações Vasculares/complicaçõesRESUMO
Psoralen photoreaction produces covalent monoadducts and interstrand crosslinks in DNA. The interstrand DNA crosslinks are complex double strand lesions that require the involvement of multiple pathways for repair. Homologous recombination, which can carry out error-free repair, is a major pathway for crosslink repair; however, some recombination pathways can also produce DNA rearrangements. Psoralen photoreaction-induced recombination in yeast was measured using direct repeat substrates that can detect gene conversions, a form of conservative recombination, as well as deletions and triplications, which generate gene copy number changes. In repair-proficient cells the major products of recombination were gene conversions, along with substantial fractions of deletions. Deficiencies in DNA repair pathways increased non-conservative recombination products. Homologous recombination-deficient rad51, rad54, and rad57 strains had low levels of crosslink-induced recombination, and most products were deletions produced by single strand annealing. Nucleotide excision repair-deficient rad1 and rad2 yeast had increased levels of triplications, and rad1 cells had lower crosslink-induced recombination. Deficiencies in post-replication repair increased crosslink-induced recombination and gene copy number changes. Loss of REV3 function, in the error-prone branch, and of RAD5 and UBC13, in the error-free branch, produced moderate increases in deletions and triplications; rad18 cells, deficient in both post-replication repair sub-pathways, exhibited hyperrecombination, with primarily non-conservative products. Proper functioning of all the DNA repair pathways tested was required to maintain genomic stability and avoid gene copy number variation in response to interstrand crosslinks.
Assuntos
Adutos de DNA/genética , Variações do Número de Cópias de DNA , Furocumarinas/genética , Reparo de DNA por Recombinação , Saccharomyces cerevisiae/genética , Enzimas Reparadoras do DNA/genética , Enzimas Reparadoras do DNA/metabolismo , Saccharomyces cerevisiae/metabolismoRESUMO
Estimulante, es aquella sustancia que acelera la actividad del sistema nervioso central (SNC) y las encontramos en diferentes presentaciones. Objetivo: Identificar si los estudiantes refieren consumir estimulantes. Determinar el tipo de estimulante y frecuencia de consumo a su vez conocer si saben de los efectos secundarios no deseados. Metodología: Estudio descriptivo, prospectivo de corte transversal, realizado en la Universidad Nacional Autónoma de Honduras en el Valle de Sula (UNAH-VS), del 1 de febrero al 30 de junio de 2013. La información se obtuvo mediante un instrumento de recolección de datos tipo cuestionario, aplicado de forma aleatoria a un total de 1,950 universitarios. Resultados: se identificaron 1510 (77%) estudiantes de la muestra que refirieron consumir estimulantes en algún momento del año académico; con un predominio por el sexo femenino con 824 (55%); el grupo de edad promedio de mayor consumo de estimulantes correspondió a los menores de 25 años con 1435 (95%). El estimulante de mayor consumo fué el café 876 (58%), seguido por las bebidas energéticas con 453 (30%). El 25% (378) desco-noce los efectos colaterales no deseados y 1132 (75%) restante que tiene conocimiento de los efectos aun así los sigue consumiendo. Conclusiones existe un alto índice de estudiantes universitarios que consumen estimulantes como café y/o bebidas energizantes, entre otras y lo hacen conociendo de los efectos secundarios no deseados y sus riesgos por consumo, porque gustan del efecto y/o porque tienen una forma accesible de mantenerse más tiempo despierto y/o activos..(AU)
Assuntos
Humanos , Estimulantes do Sistema Nervoso Central , Bebidas Energéticas/efeitos adversos , Estudantes de Ciências da SaúdeRESUMO
Introducción El proceso de aterosclerosis se inicia desde edades tempranas y está estrechamente relacionado con los lípidos plasmáticos, específicamente con la elevación de las cifras de las lipoproteínas de baja densidad (LDL), aumento en las lipoproteínas de muy baja densidad (VLDL) y descenso en los niveles de las lipoproteínas de alta densidad (HDL).Objetivo Identificar si el alto peso al nacer (macrosomía) constituye un valor predictor de dislipidemia en el escolar. Método Se realizó un estudio descriptivo con un diseño de tipo caso control que incluyó 2 grupos de niños: uno de 140 con antecedentes de macrosomía y otro de 100 con peso normal en el nacimiento, nacidos entre enero de 1992 y diciembre de 1995, con el fin de identificar de forma temprana factores de riesgo ateroscleróticos en escolares con alto peso al nacer. Se estudiaron variables antropométricas y perfil lipídico (colesterol, colesterol HDL, colesterol LDL, colesterol VLDL y triglicéridos). Resultados: Existen diferencias altamente significativas entre los pesos promedios de los 2 grupos. No hubo diferencias estadísticas significativas entre los 2 grupos en los valores de colesterol -en el grupo de estudio el 93,57% fueron normales y el 6,43% alterados, y en el grupo control el 90,00% fueron normales y el 10,00% alterados- y en los valores de colesterol HDL. El colesterol LDL resultó alterado en una proporción mayor de niños en el grupo control, siendo los valores de triglicéridos alterados del 14,00% en el grupo de casos y del 0,00% en el grupo control. Conclusiones: El alto peso al nacer no constituye un factor predictor para la hipercolesterolemia y ésteres de colesterol HDL, LDL, pero sí para los triglicéridos en nuestro estudio
The process of atherosclerosis begins at early ages and is closely related to plasma lipid levels, specifically, an increase in low density lipoprotein (LDL), very low density lipoprotein (VLDL), and a decrease in high density lipoprotein (HDL). OBJECTIVE: To determine if high birth weight, or macrosomia, is of predictive value for dyslipidemia in school children. METHODS: A descriptive study with a case control design was conducted on two groups of children; one group of 140 children with a history of macrosomia, and another group of 100 children with normal weight at birth, born between January 1992 and December 1995. The aim was the early identification of atherosclerotic risk factors in school children with high weight at birth. Anthropometric variables and lipid profile were studied (cholesterol, HDL-cholesterol, LDL-cholesterol, VLDL-cholesterol, and triglycerides). RESULTS: There were significant differences between the mean weights of the two groups. There were no significant statistical differences between the two groups in the cholesterol levels (93.57% normal and 6.43% abnormal in the study group, and and 90.00% normal and 10.00% abnormal in the control group), or in the values of HDL cholesterol. LDL cholesterol was abnormal in more children in the control group, and abnormal values of triglycerides were observed in 14.00% of cases in the study group 0.00% in the control group. Conclusion: High birth weight is not a predictive factor for hypercholesterolemia or HDL and LDL-cholesterol esters, but is positive for triglycerides in our study