ABSTRACT
La resistencia a hormonas tiroideas, descrita por Refetoff en 1967, es un desorden genético autosómico dominante. Se caracteriza por una respuesta reducida de los tejidos blandos a la hormona tiroidea con incremento de niveles de tiroxina libre sin inhibición de la hormona tirotropa, como consecuencia de mutaciones presentes en el gen receptor beta de la hormona tiroidea (rTHβ) en el 85% de los casos. Es una entidad poco frecuente y el diagnóstico definitivo se basa en el estudio genético. Presentamos el caso de una probable nueva mutación en el gen rTHβ (AU9
Resistance to thyroid hormone, described by Refetoff in 1967, it is an autosomic dominant genetic disorder. It is characterised by a reduced soft-tissue response to thyroid hormone action, associated with increased free thyroxin (FT4) levels with no thyrotrophic hormone inhibition, as a consequence of mutations present in thyroid hormone receptor beta gen (rTHβ) in 85% of cases. It is a rare disease and the definitive diagnostic is based on a genetic study (AU)
Subject(s)
Humans , Male , Adult , /diagnosis , /genetics , Mutagenesis/genetics , Thyrotropin/analysis , Clinical Laboratory Techniques/instrumentation , Laboratory Test/analysis , Laboratory Test/methods , Thyroxine/analysis , Receptors, Thyroid Hormone/analysis , Receptors, Thyroid Hormone/genetics , Personality Disorders/complications , Personality Disorders/drug therapy , Risperidone/therapeutic useABSTRACT
OBJECTIVE: To assess the impact of a 2-year recreational physical activity program in 1044 fourth- and fifth-grade primary schoolchildren from the Province of Cuenca, Spain. STUDY DESIGN: Cluster-randomized controlled trial with 10 intervention and 10 control schools. The program consisted of 3 90-minute sessions of physical activity per week,during 28 weeks every year.Changes in endpoints between baseline (September 2004) and the end of follow-up (June 2006) were compared between the control and intervention group by using mixed regression models, with adjustment for the baseline endpoint value, age, and the school. RESULTS: Compared with control subjects, intervention girls reduced the frequency of overweight (odds ratio, 0.55; 95% CI, 0.39-0.78; P<.001). However, intervention was associated with an increase in the percentage of body fat in boys (0.97%; 95% CI, 0.14-1.81; P=.02). Girls in the intervention group had lower total cholesterol level (-6.86 mg/dL; 95% CI, -9.70--4.01; P<.001) and apolipoprotein B level (-3.61 mg/dL; 95% CI, -6.27--0.95; P=.008) than control subjects. Results were similar in boys. CONCLUSION: In 2 years, the physical activity program lowered the frequency of overweight in girls and reduced total cholesterol and apolipoprotein B in both girls and boys.
Subject(s)
Adipose Tissue , Body Weight , Exercise , Obesity/prevention & control , Physical Fitness , Skinfold Thickness , Apolipoproteins B/blood , Body Mass Index , Child , Cholesterol/blood , Cluster Analysis , Female , Follow-Up Studies , Humans , Male , Obesity/physiopathology , Odds Ratio , Overweight/epidemiology , Physical Education and Training/methods , Regression Analysis , Sex Factors , Spain , Treatment OutcomeABSTRACT
Objetivo. Evaluar el grado de acuerdo entre los indicadores de exceso de grasa corporal obtenidosmediante el cálculo de parámetros antropométricos, analíticos y con bioimpedanciómetro eléctricode 4 y 8 electrodos.Diseño. Estudio observacional transversal.Emplazamiento. Centro de salud urbano de la ciudad de Cuenca.Participantes. Se seleccionó una muestra aleatoria de 110 individuos entre 25 y 60 años mediantepetición de colaboración voluntaria, durante los meses de marzo y abril de 2007.Mediciones principales. Se recogieron variables sociodemográfi cas (edad y sexo), antropométricas[peso, talla, perímetro de cintura (PC), perímetro de cadera (PCa) y pliegue tricipital (PCT)], analíticas[colesterol total, HDL-colesterol, LDL-colesterol, triglicéridos (TG), Apo A1, Apo B, glucemia basal einsulina basal] y porcentaje de grasa corporal obtenida mediante bioimpedanciómetro eléctrico de 4(BIO 4) y 8 electrodos (BIO 8).Resultados. No se observaron diferencias estadísticamente signifi cativas en los parámetros analíticosdel perfi l lipídico (Colesterol total, HDL y LDL) entre los 2 grupos. En los individuos con resistencia a lainsulina (RI) se observaron valores signifi cativamente superiores de glucemia basal (110,9 ± 22,5 frentea 98,9 ± 19,08 mg/dL) y de insulina basal (24,3 ± 12,5 frente a 8,5 ± 2,92 mg/dL). La RI correlacionópositiva y signifi cativamente con el porcentaje de grasa corporal obtenido por BIO 4 (r = 0,31), porBIO 8 (r = 0,26) y con el índice de cintura altura (ICA; r = 0,22).Conclusiones. En la práctica clínica la determinación del exceso de grasa corporal y RI por BIO4 parece mejor que con BIO 8, mostrando una alta fi abilidad entre ambos. No obstante, el ICA sepresenta como un buen método de estimación de RI, además de resultar fácil, cómodo y accesibleen las consultas de Atención Primaria
Objective. To assess the degree of agreement between fat indicators obtained by calculating anthropometricand analytical parameters and measurements with an electric impedance meter with 4and 8 electrodes.Design. Observational, cross-sectional study.Setting. Urban health centre of the city of Cuenca.Subjects. A random sample of 110 individuals between 25 and 60 years was selected through voluntarypetition for collaboration, during the months of March and April 2007.Main measurements. Socio-demographic (age and gender), anthropometric: (weight, height, waistcircumference, hip circumference and tricipital fold (PCT)) and analytical variables (total cholesterol,HDL-cholesterol, LDL-cholesterol, triglycerides(TG), Apo A1, Apo B, basal glucose levels and basalinsulin) and % body fat obtained by an impedance electric meter with 4 and 8 electrodes were recorded.Results. There were no statistically signifi cant differences in the analytical parameters of the lipidprofi le (total cholesterol, HDL and LDL) between the 2 groups. There were signifi cantly higher basalglucose levels (110.9 ± 22.5 versus 98.9 ± 19.08 mg / dL) and basal insulin levels (24.3 ± 12.5 versus8.95 ± 2.92 mg / dL) in individuals with insulin resistance (IR). IR correlated positively and signifi cantlywith % body fat obtained by 4 electrodes (r = 0. 31), 8 electrodes (r = 0.26) and waist / height ratio(r = 0.22).Conclusions. In clinical practice, the determination of excess body fat and IR with BIO 4 seems betterthan with BIO 8, showing a high reliability between the two. However, waist height index (ICA) ispresented as a good method for estimating IR, as well as being simple, convenient and accessiblein Primary Care clinics