RESUMEN
Fundamentos: A importância da validação científica de técnicas coadjuvantes a diversos tratamentos de saúde é inquestionável. Desta forma, a influência da drenagem linfática manual (DLM) na natriurese e na lipólise sob interação de anticoncepcional oral precisa ser investigada. Objetivos: Avaliar o efeito agudo da DLM sobre a natriurese e lipólise de mulheres jovens usuárias ou não de anticoncepcional oral. Método: Participaram 29 mulheres não usuárias de anticoncepcional oral e 29 usuárias, autodeclaradas saudáveis, sedentárias e eutróficas. As análises foram realizadas em dois dias distintos, Controle (C), sem intervenção terapêutica e DLM. Nos dias C e DLM coletamos 4 amostras de urina com intervalos de 60 min. Seguimos o método de Leduc, abdomem e membros inferiores, durante 45 min. Analisamos o fluxo urinário e excreção urinária e sódio, glicerol e peptideo natriurético atrial. A normalidade dos dados foi analisada pelo teste Shapiro-Wilk. Os dados que não obedeceram à normalidade foram apresentados em mediana e intervalo interquartil (25%-75%), enquanto os que obedeceram foram apresentados em média ± erro padrão. O teste de Mann-Whitney foi usado para dados não pareados e Wilcoxon para dados pareados. Dados com normalidade foram avaliados pelo teste t-Student não pareado. O nível de significância estatística adotado foi de 5%. Resultados: O efeito agudo de uma sessão de DLM promove aumento da natriurese em mulheres não usuárias de anticoncepcional oral, por outro lado, em usuárias induz aumento na liberação de glicerol e de ANP
Background: The importance of scientific validation of supporting techniques to various treatments is unquestionable. In this context, the influence of manual lymphatic drainage (MLD) on natriuresis and lipolysis and its interaction with oral contraceptives still need to be investigated. Objectives: To evaluate the acute effect of MLD on natriuresis and lipolysis in young women using or not oral contraceptives. Methods: Twenty-nine non-users of oral contraceptives and 29 oral contraceptive users, self-reported healthy, sedentary, normal weight women were enrolled. Analyses were conducted on two different days control (C), without therapeutic intervention and MLD day. Four urine samples were collected at 60-minute intervals. MLD was performed in lower limbs and abdomen for 45 min following the Leduc method. Urinary flow rat e and urinary sodium, glycerol and atrial natriuretic peptide excretion were analyzed. Data normality was tested by the Shapiro-Wilk test. Data without normal distribution were expressed as median and interquartile range (25%-75%), while normally distributed data were expressed as mean ± standard error. Mann-Whitney test was used for unpaired data and Wilcoxon test for paired data. Data with normal distribution were evaluated by the unpaired t-Student test. Statistical significance was set at 5%. Results: One MLD session had an acute effect on both groups, increasing natriuresis in non-users of oral contraceptives and glycerol and atrial natriuretic peptide excretion in oral contraceptive users. Conclusion: Oral contraceptives influence the effect of MLD on natriuresis
Asunto(s)
Humanos , Femenino , Adulto , Mujeres , Interpretación Estadística de Datos , Anticonceptivos , Drenaje Linfático Manual/métodos , Lipólisis , Natriuresis , Fosfatidilgliceroles , Sodio/orina , Estadísticas no Paramétricas , Manipulaciones Musculoesqueléticas/métodos , Toma de Muestras de Orina/métodosRESUMEN
Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and hypopituitarism. Clinical signs are varied and often occult. The PAX6 gene is involved in ocular morphogenesis and is expressed in numerous ocular tissues during development especially in the developing central nervous system. The aim of the present study is to evaluate PAX6 in MGS associated with isolated growth hormone deficiency. Three pre-pubertal males (A, B and C) with MGS and short stature due to growth hormone deficiency, treated with recombinant human growth hormone with limited response, were reported. Two of them had basal encephalocele. Coding and non-coding sequences corresponding of PAX6 different transcripts were analyzed by direct sequencing. Nucleotide variations causing putative aminoacid change were not observed. Patient A presented the new IVS2+9G>A transition, whereas patients A and C were heterozygous for known single nucleotide polymorphisms (SNP) within the intron 4. In addition, two SNP heterozygoses were observed for patient C in both intron 9 and 13. Sequencing also revealed several nucleotide variations in patient B. Two heterozygoses for known polymorphisms were identified along with a novel C>A nucleotide change in intron 4. This patient also presented a low number on the TG repeat in intron 9 and a new IVS11+33A>T transversion. Gene regulation and transcription of PAX6 are complex processes; there are two major protein isoforms, PAX6(-5a) and PAX6(+5a), and nine transcripts described. Furthermore, extra transcription regulatory elements have been postulated within PAX6 introns. Considering that neither population distributions on PAX6 polymorphism nor their linkeages with diseases have been reported, a functional effect due to alterations described here cannot be discarded.
A síndrome de Morning Glory (SMG) é uma displasia óptica congênita associada a anomalias craniofaciais, principalmente encefalocele basal e hipopituitarismo. Os sinais clínicos são variados e muitas vezes ocultos. O gene PAX6 está envolvido na morfogênese ocular e se expressa em vários tecidos oculares durante o desenvolvimento do sistema nervoso central. O objetivo deste estudo foi avaliar o gene PAX6 na SMG associada com deficiência isolada de hormônio de crescimento. Foram relatados três pacientes pré-púberes (A, B e C) com SMG e baixa estatura por deficiência de hormônio de crescimento tratados com hormônio de crescimento recombinante humano. As seqüências codificadoras e não-codificadoras correspondentes ao PAX6 em diferentes transcritos foram analisadas por seqüenciamento direto. Variações nucleotídeas com trocas pontuais de aminoácidos não foram encontradas. O paciente A apresentou uma transição nova IVS2+9G>A, enquanto os pacientes A e C foram heterozigotos para um polimorfismo (SNP) no íntron 4. Ainda, dois SNPs em heterozigose nos íntrons 9 e 13 foram observados no paciente C. O seqüenciamento também mostrou várias variações nucleotídeas no paciente B. Dois SNPs conhecidos com a alteração nucleotídea nova C>A no íntron 4 foram observados em heterozigose. Este paciente também apresentou um baixo número de repetições TG no íntron 9 e uma nova transversão IVS11+33A>T. A regulação e a transcrição do gene PAX6 são um processo complexo; existem 2 isoformas principais da proteína, PAX6(-5a) e PAX6(+5a) e 9 transcritos descritos. Considerando que nem a distribuição de SNPs no PAX6 e nem as suas ligações com as doenças foram relatadas, um defeito funcional devido às alterações descritas não pode ser descartado.
Asunto(s)
Niño , Humanos , Proteínas del Ojo/genética , Proteínas de Homeodominio/genética , Hormona de Crecimiento Humana/deficiencia , Mutación , Disco Óptico/anomalías , Enfermedades del Nervio Óptico/genética , Factores de Transcripción Paired Box/genética , Proteínas Represoras/genética , Secuencia de Bases , Encefalocele/diagnóstico , Heterocigoto , Hormona de Crecimiento Humana/uso terapéutico , Intrones/genética , Enfermedades del Nervio Óptico/congénito , Polimorfismo Genético , Análisis de Secuencia de ADN , SíndromeRESUMEN
Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and hypopituitarism. Clinical signs are varied and often occult. The PAX6 gene is involved in ocular morphogenesis and is expressed in numerous ocular tissues during development especially in the developing central nervous system. The aim of the present study is to evaluate PAX6 in MGS associated with isolated growth hormone deficiency. Three pre-pubertal males (A, B and C) with MGS and short stature due to growth hormone deficiency, treated with recombinant human growth hormone with limited response, were reported. Two of them had basal encephalocele. Coding and non-coding sequences corresponding of PAX6 different transcripts were analyzed by direct sequencing. Nucleotide variations causing putative aminoacid change were not observed. Patient A presented the new IVS2+9G>A transition, whereas patients A and C were heterozygous for known single nucleotide polymorphisms (SNP) within the intron 4. In addition, two SNP heterozygoses were observed for patient C in both intron 9 and 13. Sequencing also revealed several nucleotide variations in patient B. Two heterozygoses for known polymorphisms were identified along with a novel C>A nucleotide change in intron 4. This patient also presented a low number on the TG repeat in intron 9 and a new IVS11+33A>T transversion. Gene regulation and transcription of PAX6 are complex processes; there are two major protein isoforms, PAX6(-5a) and PAX6(+5a), and nine transcripts described. Furthermore, extra transcription regulatory elements have been postulated within PAX6 introns. Considering that neither population distributions on PAX6 polymorphism nor their linkeages with diseases have been reported, a functional effect due to alterations described here cannot be discarded.