Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 8 de 8
Filtrar
Más filtros











Base de datos
Intervalo de año de publicación
1.
Dement Geriatr Cogn Disord ; 22(1): 1-7, 2006.
Artículo en Inglés | MEDLINE | ID: mdl-16645274

RESUMEN

In 229 patients with dementia and in 144 control subjects, polymorphisms of apolipoprotein E (ApoE), low-density-lipoprotein (LDL)-receptor-related protein, alpha(2)-macroglobulin, interleukin (IL) 1beta, angiotensin-converting enzyme and of methylene tetrahydrofolate reductase genes were investigated. In plasma, antibodies against Chlamydia pneumoniae and lipids were determined. Dementia was classified as probable Alzheimer's disease (AD), probable dementia of vascular origin (VaD) and mixed dementia (MD). An association of the disease with ApoE and IL-1beta polymorphism and increased levels of LDL cholesterol were observed in AD and in MD but not in VaD.


Asunto(s)
Demencia Vascular/epidemiología , Demencia/epidemiología , Enfermedades Neurodegenerativas/epidemiología , Anciano , Anciano de 80 o más Años , Anticuerpos Antibacterianos/análisis , Apolipoproteína E4 , Apolipoproteínas E/genética , Infecciones por Chlamydia/epidemiología , Infecciones por Chlamydia/inmunología , Chlamydophila pneumoniae/inmunología , Colesterol/sangre , Demencia/genética , Demencia Vascular/genética , Ambiente , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Inmunoglobulina A/análisis , Inmunoglobulina G/análisis , Lípidos/sangre , Masculino , Persona de Mediana Edad , Enfermedades Neurodegenerativas/genética , Polimorfismo Genético/genética , Escalas de Valoración Psiquiátrica , Factores de Riesgo , Triglicéridos/sangre
2.
J Appl Genet ; 42(1): 73-88, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-14564066

RESUMEN

Clinical and molecular data of 59 affected persons from 36 unrelated families with XLH (36 probands and 23 members of their families) were analysed. Characteristic phenotypic features (degree of leg deformities, growth failure, tooth abnormalities, tubular reabsorption of phosphate, serum phosphate and 1,25-dihydroxyvitamin D3 concentrations, head length and hearing defect in some cases) were assessed in relation to the type and localisation of 29 different PHEX gene mutations. The severity of clinical symptoms did not strictly depend upon the type and localisation of the PHEX gene mutation. A hearing defect was correlated with mutations in the beginning fragment, while tooth abnormalities and increased head length with the mutations in the beginning and the terminal fragment of the gene. Phosphate and vitamin D3 supplementation usually slowed progressive growth retardation and leg bowing. Our results point to the probability that alternative splicing occurs in the PHEX gene, producing several active forms of the PHEX protein. Some of them might be involved in bone turnover and dentin formation, others in renal phosphate uptake and vitamin D3 metabolism.

3.
J Appl Genet ; 41(4): 293-302, 2000.
Artículo en Inglés | MEDLINE | ID: mdl-14564077

RESUMEN

We present twenty-nine PHEX gene mutations extending our previous work, giving it to a total of 37 different mutations identified in Polish patients with familial or sporadic X-linked hypophosphatemia. Deletions, insertions and nucleotide substitutions leading to frameshift (27%), stop codon (29%), splice site (24%), and missense mutations (20%) were found. The mutations are distributed along the gene; exons 3, 4, 11, 12, 14, 15, 17, 20 and 22 are regions with the most frequent mutation events. Four mutations, P534L, G579R, R549X and IVS15+1nt, recurred in three, four, two and three unrelated patients, respectively. They have also been detected in affected persons from other countries. Twenty-eight mutations are specific for Polish population and almost all of them are unique. Most of the identified mutations are expected to result in major changes in protein structure and/or function.

4.
Med Wieku Rozwoj ; 3(1): 97-112, 1999.
Artículo en Polaco | MEDLINE | ID: mdl-10910642

RESUMEN

Familial hypophosphataemic rickets (XLH) is an X-linked dominant disorder resulting in hypophosphataemia, abnormal regulation of 25-hydroxy vitamin D metabolism, elevated activity of alkaline phosphatase, bone deformities and short stature. In 1995-97 the sequence of PEX gene responsible for the disease was established. The PEX gene spreads 24.3 kb and includes 22 small exons coding a protein belonging to a neutral endopeptidase family. Function of the protein is not known yet. Mutation analysis in patients from North America, Africa and Europe (including Poland) revealed the presence of many different types of the PEX gene mutations. Identified deletions, insertions and substitution are supposed to change the structure of the PEX protein. Active form of vitamin D3, 1-alpha-hydroxylase and phosphate supplementation are now the recommended treatment of XLH patients. Further research is necessary to understand the role of the PEX protein in the pathogenesis of hypophosphatamic rickets.


Asunto(s)
Hipofosfatemia Familiar/diagnóstico , Hipofosfatemia Familiar/genética , Proteínas/genética , Vitamina D/análogos & derivados , Fosfatasa Alcalina/metabolismo , Animales , Modelos Animales de Enfermedad , Humanos , Hipofosfatemia Familiar/metabolismo , Hipofosfatemia Familiar/terapia , Ratones , Mutación , Endopeptidasa Neutra Reguladora de Fosfato PHEX , Vitamina D/metabolismo
5.
J Hist Behav Sci ; 34(4): 367-80, 1998.
Artículo en Inglés | MEDLINE | ID: mdl-9809456

RESUMEN

This paper records the Polish aspects of P. F. Lazarsfeld's sociointellectual biography and examines his impact on Polish sociology. The analysis is divided into three chronological parts. In the 1930s, Lazarsfeld's empirical work inspired Polish sociologists in their studies on unemployment. In the late 1950s and 1960s, his model of empirical social research shaped the style of sociological practice in Poland. In the 1990s, some of Lazarsfeld's substantive contributions, mainly in the area of election studies, were taken up in Polish sociology. Lazarsfeld's influence on Polish sociology was conditioned by changes in Polish society and sociology, which is emphasized in this analysis.


Asunto(s)
Sociología/historia , Historia del Siglo XX , Polonia
7.
J Assoc Off Anal Chem ; 62(5): 1050-3, 1979 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-528446

RESUMEN

Samples of green beans, applesauce, and a fruit juice were fortified with tin at 3 levels. Collaborators were asked to digest the samples, using HNO3-H2SO4, add methanol to enhance the absorption signal, and aspirate directly, using a nitrous oxide-acetylene flame. Results were received from 8 laboratories including 4 from Europe. However, only 6 laboratories used the prescribed methodology. All results were considered acceptable. The method has been adopted as interim official first action.


Asunto(s)
Análisis de los Alimentos , Estaño/análisis , Bebidas/análisis , Fabaceae/análisis , Frutas/análisis , Plantas Medicinales , Espectrofotometría Atómica
8.
J Assoc Off Anal Chem ; 61(4): 931-6, 1978 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-681266

RESUMEN

The results of a cooperative study on the determination of lead in evaporated milk, using a double blind referee technique, are reported. This study was designed to determine the normal variability of methods currently used for lead analysis by canned food industry laboratories. Twenty-three laboratories participated in this study. Each laboratory was instructed to use atomic absorption spectrophotometry (AOAC 25.065), anodic stripping voltammetry, or carbon rod atomic absorption spectrophotometry. Overall, the results appear to be in close agreement with the spiking levels. The coefficient of variation for all laboratories was 36.0% at the 0.15 ppm lead level and 16.8% at the 0.40 ppm lead level.


Asunto(s)
Plomo/análisis , Leche/análisis , Animales , Bovinos , Electroquímica , Industria de Procesamiento de Alimentos , Métodos , Espectrofotometría Atómica
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA