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Extramedullary plasmacytoma represents less than 5% of plasma cell malignancies, 85% corresponding to head and neck masses. Symptoms are related to compressive effects according to location, aesthetics issues and can be misleading associated with soft tissue disorders. In this case report, we discuss a 70-year-old woman who presented with a 3-month history of a growing painless forehead lump and confusion, for which she had an emergent simple head computed tomography scan. The images revealed a well-defined mass eroding the frontal bone with multiple lytic lesions that were also found along with long bones radiography. The mass biopsy showed a monomorphic plasmatic cell infiltrate, bone marrow studies confirmed the diagnosis of a light chain secreting multiple myeloma. Extramedullary plasmacytoma is a very unusual first presentation form of multiple myeloma and represents a clinical and radiological challenge. A systematic approach of lytic bone lesions along with the differential diagnosis of head masses are skills the clinician should develop to promptly recognize this condition considering further complications of delayed treatment. In this case, the histopathological confirmation allowed the patient to avoid neurosurgery and the early start of systemic chemotherapeutic treatment.
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INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is a neurobehavioural disorder whose essential characteristic is a persistent pattern of inattention or hyperactivity and impulsiveness. Recent studies into prevalence carried out on the Antioquian population by our group found an overall prevalence of 15.8%, which confirms ADHD as one of the most frequent problems in infancy. The cause of this disorder is still not altogether clear; familial aggregation of ADHD points towards a genetic component. Although to date no model of inheritance has been defined, its high prevalence rate, the difficulties involved in its diagnosis and its effects on the cognitive functions, as well as the social and educational repercussions, make this disorder a problem in children's public health. AIMS: Our aim was to carry out power simulations to detect genetic linkage. PATIENTS AND METHODS: The Slink programme, which is part of Linkage package, was used in six families from the city of Medellín Antioquia, which is a region where a founding effect is likely to have taken place; this makes it a strategic zone for genetic linkage studies in complex diseases such as ADHD. RESULTS: Assuming the population to be homogenous, the lod score (Z) is greater than 3 (Z>3) and individual lod score values of between 0 and 6 were obtained for each family. CONCLUSIONS: In this paper we discuss the benefits of having multigenerational families, in Antioquia, to conduct gene mapping studies and we examine the different strategies to be developed with the findings reported here.
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Transtorno do Deficit de Atenção com Hiperatividade/genética , Ligação Genética , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Colômbia/epidemiologia , Humanos , Lactente , Escore Lod , Modelos Genéticos , LinhagemRESUMO
Objetivos: Caracterizar una muestra de familias y tríos de una población colombiana aislada para mapear loci involucrados en la vulnerabilidad al Trastorno Afectivo Bipolar tipo I (TAB- I). Métodos: Se recolectan tríos y genealogías utilizando las entrevistas FIGS-DIGS en miembros de las familias y posibles afectados. El poder para detectar ligamiento (PDL) se estima por simulación. El modelo utilizado asume una frecuencia para el alelo afectado de 0.003, penetrancias de 0.01,0.81 y 0.9 y un marcador de cuatro alelos a 5cM del locus. Resultados: Se identificaron 28 familias con TAB-I, con 3.603 individuos y 160 afectados, y 246 tríos. Asumiendo homogeneidad genética y teniendo en cuenta la evidencia genética del mestizaje, las simulaciones mostraron PDL significativos de 100 por ciento para un LOD-score>3. Estamos examinando el desequilibrio promedio en tríos y tamizando en familias los cromosomas 12,18 y 21. Conclusión: Tenemos un grupo significativo de familias y trios pertenecientes a una población aislada con un poder para detectar ligamiento al Trastorno Afectivo Bipolar. Esto permite realizar estudios de ligamiento buscando genes involucrados en la vulnerabilidad al TAB-I en población Colombiana
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Transtorno BipolarRESUMO
The short variant of a functional length polymorphism in the promoter region of the serotonin transporter has been associated with several behavioural and psychiatric traits, including bipolar mood disorder. The same short allele has also been implicated as a modifier of the bipolar phenotype. Here we evaluate the etiologic/modifier role of this polymorphism in a case (N=103) / control (N=112) sample for bipolar mood disorder (type I) collected from an isolated South American population. We did not detect an association between bipolar disorder and the 5-HTT promoter polymorphism in this sample. However, an excess of the short allele was seen in younger cases and in cases with psychotic symptoms. When combined with data from the literature, the increased frequency of the short allele in patients with psychotic symptoms was statistically significant.
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Transtorno Bipolar/genética , Proteínas de Transporte/genética , Glicoproteínas de Membrana/genética , Proteínas de Membrana Transportadoras , Proteínas do Tecido Nervoso , Polimorfismo Genético/genética , Idade de Início , Alelos , Transtorno Bipolar/epidemiologia , Colômbia/epidemiologia , Frequência do Gene , Ligação Genética , Genética Populacional , Humanos , Razão de Chances , Regiões Promotoras Genéticas/genética , Proteínas da Membrana Plasmática de Transporte de SerotoninaRESUMO
INTRODUCTION: The cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations of the Notch3 gene in the chromosome 19p13.1. and is characterized by small-vessel disease of the cerebral. The clinical feature consists of migraine, recurrent strokes, mood changes and dementia. OBJECTIVE: To describe the clinical phenotype of a Colombian family with hereditary cerebrovascular disease. PATIENTS AND METHODS: We performed one pedigree with 268 individuals, neurologic examination to 57 members and magnetic resonance imaging (MRI) to 25 of them. RESULTS: Clinical analysis strongly support the diagnosis of CADASIL because 12 individuals had suffered recurrent stroke, five of them later developed subcortical dementia. Two patients developed dementia without preceding stroke. All affected individuals by stroke or dementia whom were tested with MRI had white matter hyperintensities and subcortical infarcts (nine cases). Others seven individuals have MRI signal abnormalities like CADASIL, four of them are asymptomatic, one had suffered ischemic transient attacks and two had suffered migraine. Other 22 individuals had only migraine. We outstand the high frequency of MRI signal abnormalities in corpus callosum that we found in five individuals with stroke or dementia, the patient with ischemic transient attack and one asymptomatic patient, either the presence of hearing loss in seven individuals with stroke or dementia. CONCLUSIONS: We describe one large family with hereditary cerebrovascular disease characterized by recurrent strokes, subcortical dementia, hearing loss, migraine, and MRI signal abnormalities typed leukoencephalopathy, subcortical infarcts and alterations in corpus callosum. Clinical analysis strongly support the diagnosis of CADASIL.
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Demência por Múltiplos Infartos/genética , Adulto , Idoso , Encéfalo/patologia , Colômbia , Corpo Caloso/patologia , Demência/diagnóstico , Demência por Múltiplos Infartos/diagnóstico , Feminino , Transtornos da Audição/diagnóstico , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Transtornos de Enxaqueca/diagnóstico , Linhagem , RecidivaRESUMO
Tomamos la presión arterial con doppler a 600 neonatos, de menos de 25 horas de vida en dos ocasiones. Encontramos un promedio de presión arterial de 74/44, siendo la presión arterial diastólica 3/5 partes de la sistólica. Basados sobre el percentil 95, establecimos para recién nacidos de término que: hipertensión sist61ica son 2 o más valores mayores de 92.5 mmHg. (incidencia: 2.3 por ciento); hipertensión diastólica valores mayores de 60 mmHg (incidencia: 0.7 por ciento); hipertensión sisto-diastólica valores mayores de 92.5160 mmHg (incidencia: 0.35/0), Cifras de hipertensión para prematuros también fueron estudiadas...