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1.
Am J Med Genet B Neuropsychiatr Genet ; 133B(1): 25-30, 2005 Feb 05.
Artículo en Inglés | MEDLINE | ID: mdl-15558715

RESUMEN

Homozygosity mapping is a very powerful method for finding rare recessive disease genes in monogenic disorders and may also be useful for locating risk genes in complex disorders, late onset disorders where parents often are not available, and for rare phenotypic subgroups. In the present study, homozygosity mapping was applied to 24 persons with bipolar disorder from 22 inbred families. The families were selected irrespective of whether other affected family members were present or not. A genome wide screen using genotypes from only a single affected person in each family was performed using the AFFYMETRIX GeneChip HuSNP Mapping Assay, which contains 1,494 single nucleotide polymorphisms. At chromosome 17q24-q25 a parametric multipoint LOD score of 1.96 was found at WIAF-2407 and WIAF-2405. When analyzing 19 additional microsatellite markers on chromosome 17q the maximum parametric multipoint LOD score was 2.08, 1.5 cM proximal to D17S668. The present study replicates a recent significant linkage finding.


Asunto(s)
Trastorno Bipolar/genética , Mapeo Cromosómico/métodos , Predisposición Genética a la Enfermedad/genética , Genoma Humano , Polimorfismo de Nucleótido Simple , Alelos , Cromosomas Humanos Par 17/genética , Consanguinidad , Cuba , Salud de la Familia , Femenino , Frecuencia de los Genes , Genotipo , Homocigoto , Humanos , Escala de Lod , Masculino , Repeticiones de Microsatélite , Linaje
2.
West Indian med. j ; 49(suppl. 2): 56, Apr. 2000. tab
Artículo en Inglés | MedCarib | ID: med-896

RESUMEN

OBJECTIVE: The aim of this study was to assess prevalence of obesity in a health center in Guadeloupe and analyse the association of known cardiovascular risk factors. MATERIAL AND METHODS: From a total of675 people aged 18 to 75 years attending a health centre between April and September 1999, 79 obese patients (BMI> 30) and 158 non-obese age and sex matched controls were enrolled. Pregnant patients were excluded. Medical histories were obtained by standardised questionnaire. Body mass index (BMI), waist to hip ratio (WHR), and laboratory measurements were done. RESULTS: Among the 675 subjects, prevalenceof overweight (BMI>25 and<30) was 35.4 percent) formen vs 38.9 percent for women and prevalence of obesity (BMI >30) was 9.7 percent for men vs 18.6 percent for women. Results in cases and controls are shown in the table. A logistic regression revealed that sedentary way of life, hypertension and a WHR>0.90 were cardiovascular risk factors significantly and independently associated with obesity. CONCLUSIONS: These results have shown a high percentage of overweight subjects for whom it is necessary to organize the prevention of cardiovascular disease by the control of hypertension, dietary restriction and exercise training. (Au)


Asunto(s)
Adulto , Persona de Mediana Edad , Anciano , Femenino , Humanos , Masculino , Adolescente , Obesidad/epidemiología , Enfermedades Cardiovasculares/prevención & control , Factores de Riesgo , Guadalupe , Estudios de Casos y Controles , Hipertensión/prevención & control , Ejercicio Físico , Dietoterapia
3.
J Pediatr ; 130(4): 547-50, 1997 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-9108851

RESUMEN

OBJECTIVE: The objective of this study is to investigate the effect of iron therapy on breath-holding spells (BHS). METHODOLOGY: Sixty-seven children with BHS were enrolled in a clinical trial to evaluate the effect of iron therapy on BHS. At the beginning of therapy, the clinical, laboratory, and demographic characteristics of the patients in the treatment group (n = 33) and placebo group (n = 34) were comparable. Patients were assessed weekly for the first 8 weeks and then every 2 weeks for the next 8 weeks. Response to therapy was assessed by the change in the frequency of BHS. RESULTS: Children treated with iron showed significant reduction in the frequency of BHS (88%) compared with the frequency (6%) in the placebo group. As expected, the treated group showed a significant improvement of a number of blood indexes compared with the placebo group. Baseline mean levels of hemoglobin and total iron binding capacity were predictive of a favorable response to iron treatment. CONCLUSION: Results of this study indicate that iron therapy is effective in the treatment of BHS and that iron-deficient children seem to be more likely to benefit from such therapy. Response to iron therapy was strongly correlated with improvement in blood indexes.


Asunto(s)
Apnea/terapia , Compuestos Ferrosos/uso terapéutico , Apnea/sangre , Método Doble Ciego , Índices de Eritrocitos , Femenino , Hemoglobinas/análisis , Humanos , Lactante , Hierro/sangre , Masculino
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