ABSTRACT
Background: Attention deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurobiological disorder of childhood onset, characterized by hyperactivity, impulsiveness, and/or inattentiveness. Aún: To search forpossible associations between dopamine receptor D4 (DRD4) and dopamine transponer 1 (DATl) polymorphisms and ADHD in Chilean families. Material and methods: We extended a previous family-based discordant sib pair analysis that included 26 cases diagnosed according to DSM-IV entena and 25 controls (healthy siblings of cases), adding 14 cases and 11 controls. Results: Both loci, individually classified as homozygotes or heterozygotes for the DRD4 7-repeat and DATl 10-repeat alleles, did not exhibit genotype frequency differences between affected children and their healthy siblings. However, the simultaneous presence of both DRD4 7-repeat heterozygosity and DATl 10 allele homozygosity was significantly higher (22.5 percent) in cases (40), compared with (2.8 percent) unaffected siblings (36), with an odds-ratio of 10.16. Conclusions: The genotype combination DRD4/7 heterozygotes and DAT1/10 homozygotes is a high risk factors in Chilean families for ADHD. Increased density of dopamine transporters in ADHD brains, along with abundance of 7-repeat D4 receptors in prefrontal cortex, which is impaired in ADHD patients, make the observed gene-gene interaction worthy of studies to understand the functional basis ofADHD.
Subject(s)
Child , Humans , Attention Deficit Disorder with Hyperactivity/genetics , Dopamine Plasma Membrane Transport Proteins/genetics , Family , Polymorphism, Genetic/genetics , /genetics , Case-Control Studies , Diagnostic and Statistical Manual of Mental Disorders , Gene Frequency , Genetic Predisposition to Disease , Genotype , Minisatellite Repeats , Polymerase Chain Reaction , Risk FactorsABSTRACT
El objetivo del estudio fue evaluar aquellos factores de riesgo en el tumor primario que se asocian a compromiso de ganglios pelvianos al momento de la cirugía, en pacientes en etapas precoces de carcinoma escamoso de cuello uterino. De 76 pacientes con estadio lb/lla sometidas a histerectomia radical entre junio de 1985 y diciembre de 1999, sólo 64 tenían la información necesaria para ser evaluadas adecuadamente. De 64 paciente estudiadas 54,8 por ciento, 35,4 por ciento y 9,6 por ciento, correspondían a estadios lb1, lb2 y lla, respectivamente. Diecinueve (29,7 por ciento) presentaban compromiso ganglionar pelviano. De todas las variables analizadas, etapa (p=0,003), permeaciones vasculares-linfáticas (p=0,003), invasión parametrial (p=0,002), compromiso vascular-linfático del parametrio (p=0,035), y compromiso vaginal por tumor (p=0,029), fueron factores relacionados significativamente con metástasis ganglionares en el análisis univariado. Sin embargo, sólo etapa (p=0,017) y permeaciones vascular-linfáticas en el tumor (p=0,021) fueron predictores independientes de metástasis ganglionares pelvianas cuando los factores encontrados significativamente relacionados en el análisis univariado fueron sometidos a análisis multivariado