RESUMEN
PURPOSE: To study the relationship of imprinted gene expression (CDKN1C, H19, IGF2, KCNQ1 and PHLDA2) with human fetal growth. METHODS: RNA was extracted from fetuses with intrauterine growth restriction (IUGR) and from the controls without growth restriction. The gene expression pattern of CDKN1C, H19, IGF2, KCNQ1 and PHLDA2 genes was evaluated using RT-PCR. MS-MLPA was also performed to assess the IC1 and IC2 DNA methylation status on chromosome 11p15.5. RESULTS: The samples were divided according to their tissue type in placental or fetal tissue. Within each group, IUGR cases and controls were compared. In the IUGR cases, in both fetal and placental tissue groups IGF2 was observed to be down regulated. In another approach, the samples were divided in IUGR and control groups and for each of them placental and fetal tissue was compared. Within the IUGR group up regulation of CDKN1C, KCNQ1, and PHLDA2 was determined in placental samples. IUGR group presented a statistically lower methylation status in both IC1 and in IC2. Regarding differences between fetal and placental samples within this group, methylation status of placental samples was statistically significant down regulated in the imprinting center 1 (IC1). CONCLUSIONS: Genomic imprinting is a phenomenon that plays an important role in fetal and placental development. This study emphasizes the importance of imprinted genes during pregnancy. Differences between tissues could reflect different mechanisms, either compensatory or adverse, that should be investigated in more detail.
Asunto(s)
Inhibidor p57 de las Quinasas Dependientes de la Ciclina/genética , Desarrollo Fetal/genética , Impresión Genómica/genética , Factor II del Crecimiento Similar a la Insulina/genética , Canal de Potasio KCNQ1/genética , Proteínas Nucleares/genética , ARN Largo no Codificante/genética , Metilación de ADN/genética , Femenino , Retardo del Crecimiento Fetal/genética , Regulación del Desarrollo de la Expresión Génica/genética , Humanos , Placentación , EmbarazoRESUMEN
INTRODUCTION: Lower limb amputees present a high risk of falling. This study aims to characterise fall history in unilateral lower limb amputees that are autonomous in the community, identifying differences between transfemoral and transtibial amputees and assessing fear of falling between fallers and non-fallers. MATERIAL AND METHODS: Descriptive, cross-sectional study of consecutive community-dwelling unilateral lower limb adult amputees of any aetiology, attending outpatient consultation in a Portuguese Physical and Rehabilitation Medicine central and university hospital department. INCLUSION CRITERIA: a prior 12 week individualised rehabilitation program for prosthesis training; regular prosthesis use for more than one year with autonomous gait; and a Functional Independence Measure® score equal to or greater than 100. Injury severity was classified according to the National Database of Nursing Quality Indicators® injury falls measure. In order to assess walking performance over short distances and fear of falling we used the 10-meter walk test and the Falls Efficacy Scale, respectively. RESULTS: In a sample of 52 lower limb amputees, mainly men (80.8%) and of traumatic aetiology (63.5%), with a mean age of 57.21 ± 11.55 years, 36.5% reported at least one fall in the previous 12 months, all classified as minor injuries. Transfemoral amputees (n = 23) presented a higher number of falls (2.22 ± 3.23, p = 0.025) and lower gait velocity (0.77 ± 0.26 m per second, p < 0.001). Regarding fear of falling, we found no significant differences between fallers and non-fallers. DISCUSSION: The prevalence of falls was low and of minor severity. Transfemoral amputees fell more often and were slower. There were no reported differences in fear of falling between groups. CONCLUSION: This paper contributes information about Portuguese lower limb amputees, whose studies are scarce and are rarely dedicated to falling.
Introdução: Amputados do membro inferior apresentam um elevado risco de queda. Neste estudo pretende-se caracterizar a história de queda em amputados unilaterais de membros inferiores, autónomos da comunidade, identificar diferenças entre transfemorais e transtibiais e avaliar diferenças no medo de cair entre os que caíram e os que não caíram. Material e Métodos: Estudo descritivo, transversal, de amputados unilaterais de membros inferiores, adultos, residentes na comunidade, de qualquer etiologia, consecutivamente recrutados da consulta do serviço de Medicina Física e de Reabilitação de um hospital central e universitário de Portugal. Critérios de inclusão: reabilitação de 12 semanas para treino protético; uso regular de prótese superior a um ano, marcha autónoma e Medida de Independência Funcional® igual ou superior a 100. A gravidade de queda foi classificada recorrendo à National Database of Nursing Quality Indicators® injury falls measure e a capacidade de andar e medo de cair com, respetivamente, o 10-meter walk test e a Falls Efficacy Scale. Resultados: Foi analisado um total de 52 amputados, maioritariamente homens (80,8%) e de etiologia traumática (63,5%) e com idade média 57,21 ± 11,55 anos, dos quais 36,5% relataram pelo menos uma queda, todas de baixa gravidade. Os transfemorais (n = 23) apresentaram mais quedas (2,22 ± 3,23, p = 0,025) e menor velocidade de marcha (0,77 ± 0,26 m por segundo, p < 0,001). Relativamente ao medo de cair, não encontrámos diferenças significativas entre doentes amputados com e sem história de quedas. Discussão: A prevalência e gravidade de queda foi baixa. Amputados transfemorais apresentaram mais quedas e menor velocidade de marcha. Não existiram diferenças no medo de cair em função da história de queda. Conclusão: Este trabalho acrescenta informação acerca dos amputados do membro inferior portugueses, cujos estudos são escassos e raramente dedicados a queda.