Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 3 de 3
Filtrar
Más filtros










Base de datos
Intervalo de año de publicación
1.
J Clin Endocrinol Metab ; 94(9): 3234-41, 2009 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-19567536

RESUMEN

CONTEXT: The association between thyroid function during pregnancy and the later mental and psychomotor development of the child is supported by numerous experimental, clinical, and epidemiological studies. OBJECTIVE: The aim of the study was to evaluate the psychological development of infants aged 3 to 18 months whose mothers had received 300 microg of potassium iodide during the first trimester of their pregnancy and compare with infants whose mothers had received no iodine supplements. DESIGN AND STUDY SUBJECTS: The study included 133 women who had received 300 microg of potassium iodine and 61 women who had received no iodine supplements. MAIN OUTCOME MEASURES: The neuropsychological status of the children was evaluated with the Bayley Scales of Infant Development, and measurements were made of TSH, free T(3), free T(4), and urinary iodine. RESULTS: Those children whose mothers had received an iodine supplement of 300 microg had a more favorable psychometric assessment than those of the other group of mothers. They had higher scores on the Psychomotor Development Index (P = 0.02) and the Behavior Rating Scale. CONCLUSIONS: Dietary iodine supplements not only have no harmful effect on the neurodevelopment of the children, they may even be beneficial. Given the possible presence of confounding variables not controlled for in this study, these findings should be considered as preliminary.


Asunto(s)
Desarrollo Infantil , Cognición , Suplementos Dietéticos , Yodo/administración & dosificación , Embarazo , Adulto , Femenino , Humanos , Lactante , Yodo/orina , Masculino , Glándula Tiroides/fisiología , Hormonas Tiroideas/sangre
2.
Neurogenetics ; 10(4): 347-53, 2009 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-19308469

RESUMEN

Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene together represent the most common genetic determinant of Parkinson's disease (PD) identified to date. The vast majority of patients with LRRK2-related PD reported in the literature carry one of three pathogenic substitutions: G2019S, R1441C, or R1441G. While G2019S and R1441C are geographically widespread, R1441G is most prevalent in the Basque Country and is rare outside of Northern Spain. We sought to better understand the processes that have shaped the current distribution of R1441G. We performed a haplotype analysis of 29 unrelated PD patients heterozygous for R1441G and 85 wild-type controls using 20 markers that spanned 15.1 Mb across the LRRK2 region. Nine of the patients were of Basque origin and 20 were non-Basques. We inferred haplotypes using a Bayesian approach and utilized a maximum-likelihood method to estimate the age of the most recent common ancestor. Significant but incomplete allele sharing was observed over a distance of 6.0 Mb and a single, rare ten-marker haplotype 5.8 Mb in length was seen in all mutation carriers. We estimate that the most recent common ancestor lived 1,350 (95% CI, 1,020-1,740) years ago in approximately the seventh century. We hypothesize that R1441G originated in the Basque population and that dispersion of the mutation then occurred through short-range gene flow that was largely limited to nearby regions in Spain.


Asunto(s)
Efecto Fundador , Marcadores Genéticos , Enfermedad de Parkinson/genética , Mutación Puntual , Proteínas Serina-Treonina Quinasas/genética , Adulto , Edad de Inicio , Anciano , Sustitución de Aminoácidos , Femenino , Predisposición Genética a la Enfermedad , Haplotipos , Historia Medieval , Humanos , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/historia , Polimorfismo de Nucleótido Simple , España
3.
Parkinsonism Relat Disord ; 13(8): 509-15, 2007 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-17540608

RESUMEN

Herein we describe a comparative clinical and genetic study of Lrrk2-associated parkinsonism in Northern Spain. In our sample from the Basque region, Lrrk2 R1441G and G2019S account for 15 out of 50 kindreds (30%) with familial Parkinson's disease. We observe common founder haplotypes for both R1441G and G2019S carriers. Our findings highlight the importance of Lrrk2 parkinsonism in this population and may have important consequences for its extended Diaspora in North, Central and South Americas.


Asunto(s)
Predisposición Genética a la Enfermedad , Mutación , Trastornos Parkinsonianos/genética , Proteínas Serina-Treonina Quinasas/genética , Adulto , Anciano , Arginina/genética , Análisis Mutacional de ADN , Salud de la Familia , Femenino , Glicina/genética , Humanos , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina , Masculino , Persona de Mediana Edad , Trastornos Parkinsonianos/epidemiología , Serina/genética , España/epidemiología
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA
...