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1.
Genes (Basel) ; 10(8)2019 07 28.
Artigo em Inglês | MEDLINE | ID: mdl-31357711

RESUMO

Exercise performance is influenced by genetics. However, there is a lack of knowledge about the role played by genetic variability in the frequency of physical exercise practice. The objective was to identify genetic variants that modulate the commitment of people to perform physical exercise and to detect those subjects with a lower frequency practice. A total of 451 subjects were genotyped for 64 genetic variants related to inflammation, circadian rhythms, vascular function as well as energy, lipid and carbohydrate metabolism. Physical exercise frequency question and a Minnesota Leisure Time Physical Activity Questionnaire (MLTPAQ) were used to qualitatively and quantitatively measure the average amount of physical exercise. Dietary intake and energy expenditure due to physical activity were also studied. Differences between genotypes were analyzed using linear and logistic models adjusted for Bonferroni. A significant association between GCKR rs780094 and the times the individuals performed physical exercise was observed (p = 0.004). The carriers of the minor allele showed a greater frequency of physical exercise in comparison to the major homozygous genotype carriers (OR: 1.86, 95% CI: 1.36-2.56). The analysis of the GCKR rs780094 variant suggests a possible association with the subjects that present lower frequency of physical exercise. Nevertheless, future studies are needed to confirm these findings.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Exercício , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
2.
Clin Nutr ; 38(6): 2616-2622, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30501916

RESUMO

BACKGROUND & AIMS: Calcium and dairy products have multiple health benefits. The objective of this work was to evaluate the association between calcium/dairy intake, blood pressure, the BDNF-AS rs925946 polymorphism and nutritional status in a group of schoolchildren. METHODS: As part of the GENYAL study to childhood obesity prevention, 221 children belonging to different areas of the Community of Madrid were enrolled. Anthropometric and dietary data were collected, and children were genotyped according to the rs925946 polymorphism. Adjusted logistic and linear models were used to describe the data. RESULTS: A significantly lower consumption of calcium in overweight versus normal weight children was observed (811.0 ± 174.1; 859.0 ± 195.9; 954.0 ± 223.1 mg; for obesity, overweight and normal weight, respectively, p = 0.010). Moreover, an inverse association between blood pressures and calcium intake was detected (ß = -0.006 (-0.011, -3e-4)), p = 0.040. The number of dairy servings/day showed a protective effect against overweight (OR = 0.48 (0.29, 0.75), p = 0.001). Finally, common homozygous children (GG) showed an inverse association between the calcium intake and the BMI (ß = -0.003 (-0.006, -0.001), p = 0.004), which was not observed in children carrying the T allele (ß = -1.3e-4 (-0.0022, 0.0024), p = 0.93). CONCLUSION: Calcium and dairy were strongly associated with the nutritional status and blood pressure. The identification of differential effects of calcium/dairy consumption on the nutritional status according to genetics may contribute to the personalization of future nutritional advice. TRIAL REGISTRATION: This study is registered at www.clinicaltrials.govNCT03419520.

3.
Endocrinol. diabetes nutr. (Ed. impr.) ; 65(10): 564-570, dic. 2018. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-176481

RESUMO

Antecedentes y objetivo: La sensibilidad química múltiple (SQM) es un síndrome complejo, adquirido, crónico y multifactorial, con amplia sintomatología. El objetivo del presente estudio fue conocer los hábitos alimentarios, las características dietéticas y la actividad física, así como sus condicionantes en un colectivo afectado de SQM, lo que permitirá un abordaje más preciso para la mejora de su estado nutricional. Pacientes y método: Estudio descriptivo y transversal en pacientes con SQM. Se recogió información mediante cuestionarios adaptados sobre presencia de comorbilidades, hábitos dietéticos (consumo de complementos/suplementos, tipos de dietas) y de compra, así como registro de ingesta dietética, intolerancias alimentarias y actividad física. Resultados: Se incluyó a 52 pacientes (48 mujeres) de 50,9 ± 10,3 años de edad media. Fue habitual el diagnóstico conjunto de SQM con síndrome de fatiga crónica (70,1%), fibromialgia (65,4%) o electrosensibilidad (51,9%). Las comorbilidades más frecuentes fueron colon irritable, reflujo gastroesofágico y depresión/trastorno ansioso-depresivo. El 57,7% seguía regímenes de exclusión. El 52,1% consumía complementos/suplementos habitualmente (6,4 ± 5,2 por persona) y el 16,0% tomaba más de 10 diarios. Fue elevado el porcentaje de voluntarios que no alcanzó las raciones aconsejadas de lácteos (84,3%), frutas (82,3%) y cereales (64,7%), coincidiendo con los alimentos con mayor intolerancia. Con respecto a la actividad física, los sujetos activos solo representaban el 12,5%. Conclusiones: Los datos obtenidos confirman la necesidad de mejora del patrón alimentario y realización de actividad física según características individuales. La educación nutricional y personalización de las pautas podrían evitar dietas incompletas, monótonas y desequilibradas que empeoren la calidad de vida y situación fisiológica


Background and objective: Multiple chemical sensitivity (MCS) is a complex, acquired, chronic syndrome of multifactorial etiology with multiple symptoms. The aim of the study was to assess the nutritional habits, dietary characteristics and physical activity, as well as their determinants, of a population diagnosed with MCS, which may allow for a more precise approach to nutritional improvement. Patients and method: A descriptive, cross-sectional study in patients diagnosed with MCS. Information was collected using adapted questionnaires. Data included presence of comorbidities, nutritional (use of supplements, types of diet) and food purchasing habits. Dietary intake, food intolerances, and physical activity were also recorded. Results: The study included of 52 patients (48 female) aged 50.9±10.3 years. Diagnosis of MCS was commonly associated to chronic fatigue syndrome (70.1%), fibromyalgia (65.4%), or electrosensitivity (51.9%). The most common comorbidities were irritable bowel, gastroesophageal reflux, and depression/anxiety-depressive disorder. Exclusion diets were followed by 57.7%, 52.1% commonly used supplements (6.4±5.2 per person), and 16.0% took more than 10 daily. A high proportion of volunteers did not take the recommended amounts of dairy products (84.3%), fruit (82.3%), and cereals (64.7%), the foods to which intolerance was greatest. As regards physical activity, active subjects only represented 12.5%. Conclusions: The data collected support the need to improve food pattern and to perform physical activity according to individual characteristics. Nutritional education and diet personalization could prevent incomplete, monotonous, and unbalanced diets which impair quality of life and physiological status


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Ingestão de Alimentos , Exercício , Sensibilidade Química Múltipla , Consumo de Alimentos , Comportamento Alimentar , Estudos Transversais , Epidemiologia Descritiva , Comorbidade , Inquéritos e Questionários , Suplementos Nutricionais , Dieta , Qualidade de Vida , Hipersensibilidade Alimentar
4.
Endocrinol Diabetes Nutr ; 65(10): 564-570, 2018 Dec.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-30309810

RESUMO

BACKGROUND AND OBJECTIVE: Multiple chemical sensitivity (MCS) is a complex, acquired, chronic syndrome of multifactorial etiology with multiple symptoms. The aim of the study was to assess the nutritional habits, dietary characteristics and physical activity, as well as their determinants, of a population diagnosed with MCS, which may allow for a more precise approach to nutritional improvement. PATIENTS AND METHOD: A descriptive, cross-sectional study in patients diagnosed with MCS. Information was collected using adapted questionnaires. Data included presence of comorbidities, nutritional (use of supplements, types of diet) and food purchasing habits. Dietary intake, food intolerances, and physical activity were also recorded. RESULTS: The study included of 52 patients (48 female) aged 50.9±10.3 years. Diagnosis of MCS was commonly associated to chronic fatigue syndrome (70.1%), fibromyalgia (65.4%), or electrosensitivity (51.9%). The most common comorbidities were irritable bowel, gastroesophageal reflux, and depression/anxiety-depressive disorder. Exclusion diets were followed by 57.7%, 52.1% commonly used supplements (6.4±5.2 per person), and 16.0% took more than 10 daily. A high proportion of volunteers did not take the recommended amounts of dairy products (84.3%), fruit (82.3%), and cereals (64.7%), the foods to which intolerance was greatest. As regards physical activity, active subjects only represented 12.5%. CONCLUSIONS: The data collected support the need to improve food pattern and to perform physical activity according to individual characteristics. Nutritional education and diet personalization could prevent incomplete, monotonous, and unbalanced diets which impair quality of life and physiological status.


Assuntos
Dieta , Exercício , Sensibilidade Química Múltipla/epidemiologia , Adulto , Idoso , Asma/epidemiologia , Comorbidade , Estudos Transversais , Laticínios , Depressão/epidemiologia , Suplementos Nutricionais , Grão Comestível , Síndrome de Fadiga Crônica/epidemiologia , Síndrome de Fadiga Crônica/etiologia , Comportamento Alimentar , Feminino , Refluxo Gastroesofágico/epidemiologia , Humanos , Hipercolesterolemia/epidemiologia , Hipersensibilidade/epidemiologia , Hipotireoidismo/epidemiologia , Síndrome do Intestino Irritável/epidemiologia , Masculino , Pessoa de Meia-Idade , Sensibilidade Química Múltipla/etiologia , Espanha/epidemiologia , Inquéritos e Questionários
5.
Med. clín (Ed. impr.) ; 149(4): 141-146, ago. 2017. tab
Artigo em Espanhol | IBECS | ID: ibc-165583

RESUMO

Antecedentes y objetivos: La sensibilidad química múltiple (SQM) es un síndrome multisistémico y crónico, de etiología desconocida. El objetivo de este estudio fue describir el estado nutricional y la calidad de vida, así como identificar posibles polimorfismos asociados al síndrome o a su patogenia. Pacientes y métodos: Estudio epidemiológico, descriptivo y transversal en pacientes con diagnóstico de SQM. Se recogieron datos antropométricos, composición corporal, fuerza muscular y calidad de vida. La selección de single nucleotide polymorphisms (SNP, ‘polimorfismos de un solo nucleótido’) se centró en genes asociados previamente a la SQM y genes que participan en rutas de estrés oxidativo e inflamación. Resultados: Se incluyeron 52 pacientes (93,2% del sexo femenino), con una edad media de 50,9 (10,3) años. Respecto a su estado nutricional (IMC), un 48% estaba fuera de rangos de normalidad (17% desnutrición y 32% sobrepeso y obesidad). Un 30% presentó masa muscular por debajo de la referencia para la edad, un 84% una fuerza muscular inferior al percentil 10 y un 51,8% un porcentaje de masa grasa elevado. Respecto a la calidad de vida, las puntuaciones medias estuvieron por debajo de las de otras enfermedades en todas las subescalas evaluadas. Se observaron diferencias significativas en las frecuencias encontradas entre casos y controles para los SNP rs1801133 (MTHFR), rs174546 (FADS1) y rs1801282 (PPARγ). Conclusión: Un elevado porcentaje de pacientes presentó un estado nutricional anormal con masa y fuerza muscular disminuidas, lo que reduce la calidad de vida de estos pacientes, ya mermada por la sintomatología. No se identificaron polimorfismos genéticos específicos asociados al síndrome o a su patogenia (AU)


Background and objectives: Multiple chemical sensitivity (MCS) is a chronic, multisystem syndrome of unknown etiology. The aim of the present study was to describe the nutritional status and quality of life of patients suffering from MCS, as well as to identify potential polymorphisms associated with this illness. Patients and methods: A cross-sectional, descriptive study was performed on patients with a diagnosis of MCS. Data on anthropometric and body composition variables, hand muscle strength and quality of life were collected. The selection of single nucleotide polymorphisms (SNPs) was based on genes previously associated with MCS and genes involved in inflammatory and oxidative stress pathways. Results: A total of 52 patients (93.2% female), with a mean age of 50.9 (10.3) years were included in the study. Among them, based on their BMI, 48% had an inadequate nutritional status (17% were underweight and 32% were overweight or obese). Thirty percent of patients had a low muscle mass for their age, 84% had muscle strength below the tenth percentile, and 51.8% had a high fat mass percentage. Regarding quality of life, all median scores were lower than those of other illnesses assessed for every subscale assessed. Statistically significant differences between patient cases and controls were found with respect to rs1801133 (MTHFR), rs174546 (FADS1) and rs1801282 (PPARγ) polymorphisms. Conclusion: A high percentage of patients had a poor nutritional status, low muscle strength and decreased muscle mass. These facts exacerbate the already-lower quality of life of these patients. Specific genetic polymorphisms associated with the syndrome or its pathogenesis were not identified (AU)


Assuntos
Humanos , Sensibilidade Química Múltipla/genética , Técnicas de Genotipagem/métodos , Avaliação Nutricional , Estado Nutricional , Desnutrição/epidemiologia , Polimorfismo Genético , Qualidade de Vida , Estudos Transversais
6.
Med Clin (Barc) ; 149(4): 141-146, 2017 Aug 22.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28283271

RESUMO

BACKGROUND AND OBJECTIVES: Multiple chemical sensitivity (MCS) is a chronic, multisystem syndrome of unknown etiology. The aim of the present study was to describe the nutritional status and quality of life of patients suffering from MCS, as well as to identify potential polymorphisms associated with this illness. PATIENTS AND METHODS: A cross-sectional, descriptive study was performed on patients with a diagnosis of MCS. Data on anthropometric and body composition variables, hand muscle strength and quality of life were collected. The selection of single nucleotide polymorphisms (SNPs) was based on genes previously associated with MCS and genes involved in inflammatory and oxidative stress pathways. RESULTS: A total of 52 patients (93.2% female), with a mean age of 50.9 (10.3) years were included in the study. Among them, based on their BMI, 48% had an inadequate nutritional status (17% were underweight and 32% were overweight or obese). Thirty percent of patients had a low muscle mass for their age, 84% had muscle strength below the tenth percentile, and 51.8% had a high fat mass percentage. Regarding quality of life, all median scores were lower than those of other illnesses assessed for every subscale assessed. Statistically significant differences between patient cases and controls were found with respect to rs1801133 (MTHFR), rs174546 (FADS1) and rs1801282 (PPARγ) polymorphisms. CONCLUSION: A high percentage of patients had a poor nutritional status, low muscle strength and decreased muscle mass. These facts exacerbate the already-lower quality of life of these patients. Specific genetic polymorphisms associated with the syndrome or its pathogenesis were not identified.


Assuntos
Genótipo , Sensibilidade Química Múltipla , Estado Nutricional , Sobrepeso/etiologia , Polimorfismo de Nucleotídeo Único , Qualidade de Vida , Magreza/etiologia , Adulto , Composição Corporal , Estudos Transversais , Feminino , Marcadores Genéticos , Predisposição Genética para Doença , Força da Mão , Humanos , Masculino , Pessoa de Meia-Idade , Sensibilidade Química Múltipla/complicações , Sensibilidade Química Múltipla/diagnóstico , Sensibilidade Química Múltipla/genética , Sensibilidade Química Múltipla/fisiopatologia , Sobrepeso/diagnóstico , Sobrepeso/epidemiologia , Magreza/diagnóstico , Magreza/epidemiologia
7.
J Diabetes ; 9(12): 1065-1072, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28220621

RESUMO

BACKGROUND: Non-alcoholic fatty liver disease (NAFLD) has been proposed as an independent cardiovascular risk factor. The present study evaluated the prevalence of NAFLD in a cohort of type 1 diabetic (T1D) patients and its potential relationship with subclinical cardiovascular disease (CVD). METHODS: One hundred T1D patients (mean [±SD] age 39.4 ± 7.8 years, disease duration 21.7 ± 8.6 years) were included in the present cross-sectional study. All subjects underwent abdominal ultrasonography for detection of NAFLD, carotid ultrasonography to measure the carotid intima-media thickness (CIMT) and atheroma plaques, and cardiac tomography for evaluation of the coronary artery calcium score (CACS). RESULTS: Of the study cohort, 12% had NAFLD and 23% had a CACS >0. The T1D subjects with NAFLD had a greater CIMT than those without NAFLD (0.65 ± 0.17 vs 0.55 ± 0.14 mm; P = 0.029), but there were no significant differences between the two groups with regard to CACS, glycemic control, or the presence of carotid plaques. Patients with high liver enzyme concentrations (>20 U/L) had a higher CIMT (0.60 ± 0.16 vs 0.54 ± 0.13; P = 0.04) and there was a higher proportion of altered CACS (17 [73.9%] vs 6 [26.1%]; P = 0.001) and detection of carotid plaques (10 [76.9%] vs 3 [23.1%]; P = 0.014) in this group. CONCLUSIONS: A low prevalence of NAFLD was found in the T1D cohort that was associated globally with a low proportion of abnormal CVD imaging markers, although these imaging parameters were worse in subjects in whom NAFLD was detected.


Assuntos
Doenças Cardiovasculares/epidemiologia , Espessura Intima-Media Carotídea , Diabetes Mellitus Tipo 1/epidemiologia , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Adulto , Doenças Cardiovasculares/sangue , Estudos de Coortes , Comorbidade , Diabetes Mellitus Tipo 1/sangue , Hemoglobina A Glicada/análise , Humanos , Lipídeos/análise , Lipídeos/sangue , Pessoa de Meia-Idade , Hepatopatia Gordurosa não Alcoólica/sangue , Prevalência , Fatores de Risco , Espanha/epidemiologia
8.
Growth Horm IGF Res ; 26: 32-5, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26774403

RESUMO

BACKGROUND: In children with growth disorders, mean final height is associated to poor adherence to Growth Hormone therapy. The primary goal of this study is to identify patients who do not adhere to GH therapy and determine the influence of adherence in response to the treatment. The role of serum IGF-I and influence of socio-economic factors on the therapeutic adherence will also be evaluated. METHODS: 158 children under treatment with rhGH were included in the study. Age, gender, etiology, Tanner stage, duration of treatment, growth rate, IGF-I serum values, daily dose, and annual rhGH dose data were collected. Adherence to therapy was defined as moderate-to-poor when the patient had taken less than 92% of the prescribed medication. A subgroup of 106 patients completed a questionnaire to assess social and environmental effects. RESULTS: Moderate-to-poor adherence to rhGH treatment was determined in 33.5% of study patients. A decrease in adherence was associated to treatment duration (p=0.001). A significant correlation was determined between adherence and height velocity (p=0.002) and IGF-I (p<0.0001) levels. Adherence rates were associated to the mother's educational level (p=0.007). CONCLUSION: Poor adherence to GH therapy was observed in one-third of study patients, resulting in suboptimal growth. IGF-I levels can be helpful to identify patients with poor adherence to GH medication. Physicians should pay special attention to certain characteristics of the patient and their environment, and encourage desirable therapeutic compliance.


Assuntos
Desenvolvimento Infantil/efeitos dos fármacos , Transtornos do Crescimento/tratamento farmacológico , Transtornos do Crescimento/epidemiologia , Hormônio do Crescimento Humano/uso terapêutico , Adesão à Medicação/estatística & dados numéricos , Adolescente , Criança , Pré-Escolar , Feminino , Terapia de Reposição Hormonal/estatística & dados numéricos , Hormônio do Crescimento Humano/deficiência , Humanos , Estudos Longitudinais , Masculino , Proteínas Recombinantes/uso terapêutico , Fatores Socioeconômicos
9.
Med. clín (Ed. impr.) ; 146(2): 55-60, ene. 2016. tab, graf
Artigo em Inglês | IBECS | ID: ibc-147761

RESUMO

Background and objective: Approximately 24–40% of patients with type 2 diabetes mellitus (T2DM) develop kidney damage. Our objective was to evaluate the long-term evolution of renal function using isotopic determination of GFR and urinary albumin excretion (UAE) in patients with T2DM undergoing intensive treatment for renal and cardiovascular risk factors. Patients and methods: This was a single-center, prospective study of 201 patients with T2DM and UAE who initiated intensive treatment. They were followed for 17.2 ± 6.5 years. Patients were divided into three groups, according to renal function: 167(85.6%) had stable renal function, 16(8.2%) had creatinine levels that doubled and 12(6.2%) began renal replacement therapy (RRT). We performed periodic isotopic determinations of GFR using 125I-iothalamate. Results: There were significant differences between the three groups with respect to age, duration of T2DM at baseline, years of follow-up in the study and systolic blood pressure, serum creatinine, isotopic GFR, and UAE at baseline. Renal function evolution slopes were −1.55 mL/min/1.73 m2/year in patients with stable creatinine, −2.49 mL/min/1.73 m2/year in those with doubled creatinine, and −8.16 mL/min/1.73 m2/year in those requiring RRT. We also found that differences in renal events were determined by delayed initiation of intensive treatment. Conclusion: Patients with glomerular hyperfiltration who were undergoing treatment with renin angiotensin aldosterone system blockers exhibited a better evolution in renal function, possibly because these patients initiated intensive treatment earlier. Although diabetic nephropathy is associated with classic risk factors, early initiation of intensive treatment should be a priority in order to prevent worsening renal function (AU)


Antecedentes y objetivo: Aproximadamente el 24-40% de los pacientes con diabetes mellitus tipo 2 (DM2) desarrollan daño renal. Nuestro objetivo fue evaluar la evolución a largo plazo de la función renal mediante la determinación isotópica del filtrado glomerular (FG) y la excreción urinaria de albúmina (EUA) en pacientes con DM2 en tratamiento intensivo de los factores de riesgo renal y cardiovascular. Pacientes y métodos: Estudio prospectivo unicéntrico de 201 pacientes con DM2 y EUA que iniciaron un tratamiento intensivo. El seguimiento fue de 17,2 ± 6,5 años. Los pacientes fueron divididos en 3 grupos según la función renal al final: 167 (85,6%) tenían función renal estable, 16 (8,2%) doblaron la creatinina y 12 (6,2%) requirieron tratamiento renal sustitutivo (TRS). Se realizaron determinaciones isotópicas periódicas del FG usando 125I-iotalamato. Resultados: Hay diferencias significativas entre los 3 grupos respecto a la edad, los años de duración de la DM2 al inicio, los años de seguimiento, la presión arterial sistólica, la creatinina sérica, el FG isotópico y la EUA basal. Las pendientes de evolución de la función renal fueron: −1,55 ml/min/1,73 m2/año en pacientes estables, −2,49 ml/min/1,73 m2/año en los que doblaron la creatinina y −8,16 ml/min/1,73 m2/año en los que requirieron TRS. Además, esta diferente evolución de la función renal venía determinada por el inicio tardío del tratamiento intensivo. Conclusión: Los pacientes con hiperfiltración glomerular en tratamiento con bloqueadores del sistema renina-angiotensina-aldosterona mostraron una mejor evolución de la función renal, posiblemente debido a que estos pacientes iniciaron tratamiento intensivo antes. Aunque la nefropatía diabética se asocia a factores de riesgo clásicos, el tratamiento intensivo precoz debe ser una prioridad con el fin de prevenir el deterioro de la función renal (AU)


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Fatores de Risco , Nefropatias Diabéticas/complicações , Nefropatias/complicações , Doenças Cardiovasculares/complicações , /uso terapêutico , Cuidados Críticos/tendências , Circulação Renal/fisiologia , Taxa de Filtração Glomerular/fisiologia , Estudos Prospectivos , Isótopos/análise , Assistência Ambulatorial/métodos , Pressão Sanguínea/fisiologia , Índice Glicêmico/fisiologia , Análise de Variância , Estimativa de Kaplan-Meier
10.
Med Clin (Barc) ; 146(2): 55-60, 2016 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-26343155

RESUMO

BACKGROUND AND OBJECTIVE: Approximately 24-40% of patients with type 2 diabetes mellitus (T2DM) develop kidney damage. Our objective was to evaluate the long-term evolution of renal function using isotopic determination of GFR and urinary albumin excretion (UAE) in patients with T2DM undergoing intensive treatment for renal and cardiovascular risk factors. PATIENTS AND METHODS: This was a single-center, prospective study of 201 patients with T2DM and UAE who initiated intensive treatment. They were followed for 17.2±6.5 years. Patients were divided into three groups, according to renal function: 167(85.6%) had stable renal function, 16(8.2%) had creatinine levels that doubled and 12(6.2%) began renal replacement therapy (RRT). We performed periodic isotopic determinations of GFR using (125)I-iothalamate. RESULTS: There were significant differences between the three groups with respect to age, duration of T2DM at baseline, years of follow-up in the study and systolic blood pressure, serum creatinine, isotopic GFR, and UAE at baseline. Renal function evolution slopes were -1.55mL/min/1.73m(2)/year in patients with stable creatinine, -2.49mL/min/1.73m(2)/year in those with doubled creatinine, and -8.16mL/min/1.73m(2)/year in those requiring RRT. We also found that differences in renal events were determined by delayed initiation of intensive treatment. CONCLUSION: Patients with glomerular hyperfiltration who were undergoing treatment with renin angiotensin aldosterone system blockers exhibited a better evolution in renal function, possibly because these patients initiated intensive treatment earlier. Although diabetic nephropathy is associated with classic risk factors, early initiation of intensive treatment should be a priority in order to prevent worsening renal function.


Assuntos
Diabetes Mellitus Tipo 2/complicações , Nefropatias Diabéticas/tratamento farmacológico , Albuminúria/etiologia , Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Fármacos Cardiovasculares/uso terapêutico , Doenças Cardiovasculares/complicações , Doenças Cardiovasculares/tratamento farmacológico , Creatinina/sangue , Diabetes Mellitus Tipo 2/tratamento farmacológico , Nefropatias Diabéticas/fisiopatologia , Dislipidemias/complicações , Dislipidemias/tratamento farmacológico , Intervenção Médica Precoce , Seguimentos , Taxa de Filtração Glomerular , Humanos , Hipoglicemiantes/uso terapêutico , Hipolipemiantes/uso terapêutico , Radioisótopos do Iodo/farmacocinética , Ácido Iotalâmico/farmacocinética , Antagonistas de Receptores de Mineralocorticoides/uso terapêutico , Estudos Prospectivos , Terapia de Substituição Renal , Sistema Renina-Angiotensina/efeitos dos fármacos , Resultado do Tratamento
11.
Nutrition ; 32(4): 453-60, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26690565

RESUMO

OBJECTIVES: The aim of this study was to assess the effect of a weight loss treatment on obesity- associated variables with respect to the CLOCK and FTO genotypes. METHODS: In all, 179 volunteers (78% female) participated in a 12-week calorie-restriction program; hypocaloric diets of between 5442 and 10048 kJ/d were individually prescribed to all participants. Dietetic, anthropometric, and biochemical data were collected at baseline and at the end of the intervention. When treatment was over, five single nucleotide polymorphisms (SNPs) were sought in CLOCK and FTO in all participants who provided consent. Bonferroni-corrected linear regression models were used to examine the influence of interactions of the type genotype × dietetic change on obesity-associated variables. RESULTS: Variation in the CLOCK and FTO genotypes had no significant influence on the change in obesity-associated variables. The interaction genotype × percentage intake of dietary fat had a significant influence on body mass index (BMI; adjusted P = 0.03). Participants carrying CLOCK rs3749474 (TT + CT) showed a positive association between the change in percentage intake of dietary fat and change in BMI (ß = 0.044; 95% confidence interval [CI], 0.0119-0.0769; P = 0.008), whereas participants homozygous for the wild-type allele (CC) showed a negative, although nonsignificant association (ß = -0.032; 95% CI, -0.0694 to 0.036; P = 0.077). CONCLUSION: The possession of CLOCK rs3749474 may influence the effect of reducing the percentage intake of dietary fat on obesity-associated variables. Participants carrying this SNP might benefit more than others from weight loss treatment involving dietary fat restriction. The treatment of obesity might therefore be customized, depending on the alleles carried.


Assuntos
Proteínas CLOCK/genética , Restrição Calórica , Gorduras na Dieta/administração & dosagem , Obesidade/genética , Perda de Peso/genética , Adulto , Alelos , Dioxigenase FTO Dependente de alfa-Cetoglutarato/genética , Dioxigenase FTO Dependente de alfa-Cetoglutarato/metabolismo , Apolipoproteína A-I/sangue , Apolipoproteínas B/sangue , Glicemia/metabolismo , Índice de Massa Corporal , Proteínas CLOCK/metabolismo , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Carboidratos da Dieta/administração & dosagem , Carboidratos da Dieta/análise , Gorduras na Dieta/análise , Proteínas na Dieta/administração & dosagem , Proteínas na Dieta/análise , Ingestão de Energia , Exercício , Feminino , Interação Gene-Ambiente , Humanos , Resistência à Insulina , Masculino , Avaliação Nutricional , Obesidade/dietoterapia , Polimorfismo de Nucleotídeo Único , Triglicerídeos/sangue
12.
Oncotarget ; 6(9): 7348-63, 2015 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-25749516

RESUMO

Lipid metabolism plays an essential role in carcinogenesis due to the requirements of tumoral cells to sustain increased structural, energetic and biosynthetic precursor demands for cell proliferation. We investigated the association between expression of lipid metabolism-related genes and clinical outcome in intermediate-stage colon cancer patients with the aim of identifying a metabolic profile associated with greater malignancy and increased risk of relapse. Expression profile of 70 lipid metabolism-related genes was determined in 77 patients with stage II colon cancer. Cox regression analyses using c-index methodology was applied to identify a metabolic-related signature associated to prognosis. The metabolic signature was further confirmed in two independent validation sets of 120 patients and additionally, in a group of 264 patients from a public database. The combined analysis of these 4 genes, ABCA1, ACSL1, AGPAT1 and SCD, constitutes a metabolic-signature (ColoLipidGene) able to accurately stratify stage II colon cancer patients with 5-fold higher risk of relapse with strong statistical power in the four independent groups of patients. The identification of a group of 4 genes that predict survival in intermediate-stage colon cancer patients allows delineation of a high-risk group that may benefit from adjuvant therapy, and avoids the toxic and unnecessary chemotherapy in patients classified as low-risk group.


Assuntos
Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/genética , Perfilação da Expressão Gênica , Regulação Neoplásica da Expressão Gênica , Metabolismo dos Lipídeos , 1-Acilglicerol-3-Fosfato O-Aciltransferase/genética , 1-Acilglicerol-3-Fosfato O-Aciltransferase/metabolismo , Transportador 1 de Cassete de Ligação de ATP/genética , Transportador 1 de Cassete de Ligação de ATP/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Fatores de Transcrição Hélice-Alça-Hélice Básicos/metabolismo , Proliferação de Células , Neoplasias Colorretais/metabolismo , Intervalo Livre de Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Prognóstico , Modelos de Riscos Proporcionais , Recidiva , Análise de Regressão , Estudos Retrospectivos , Estearoil-CoA Dessaturase/genética , Estearoil-CoA Dessaturase/metabolismo , Fatores de Tempo , Resultado do Tratamento
13.
Acta Diabetol ; 52(4): 773-9, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25572333

RESUMO

AIMS: Several studies linked vitamin D deficiency with coronary artery disease (CAD). The aim of this study was to evaluate the relationship between the concentrations of 25-hydroxyvitamin D (25OHD) and the presence of early atherosclerosis in asymptomatic Type 1 Diabetes (T1D) patients with no previous history of ischemic heart disease. METHODS: One hundred and forty-five patients with T1D (age 37.8 ± 8 years, 57 % male, all Caucasian, disease duration 20.6 ± 8.3 years, HbA1c 7.6 ± 1.4 % (60.2 ± 11.1 mmol/mol), body mass index (BMI) 25.2 ± 3.5 kg/m2, 52.4 % smokers, 23 % retinopathy, 10 % nephropathy) and 48 controls matched for age, sex, BMI and smoking habit were studied. 25OHD deficiency was defined for values ≤20 ng/mL. A sun exposure questionnaire, carotid ultrasonography to determine carotid intima-media thickness (CIMT) and the presence of atheroma plaques and cardiac computed tomography for evaluation of calcium artery calcification (CACS) were performed. RESULTS: T1D subjects showed a high proportion of 25OHD deficiency (43.2 % vs. 21.7 %, p = 0.032). Of all, 82 % of T1D patients and 92 % of controls had a calcium score of 0. CIMT was greater in patients with T1D (0.55 ± 0.14 mm vs 0.48 ± 0.15, p = 0.01) compared with controls. T1D subjects showed no differences in the results of CACS or CIMT according to the vitamin D concentrations. CONCLUSIONS: T1D patients have lower concentrations and twice more prevalence of 25OHD deficiency than controls. There was no association between 25OHD concentrations and subclinical CAD.


Assuntos
Aterosclerose/epidemiologia , Diabetes Mellitus Tipo 1/epidemiologia , Deficiência de Vitamina D/epidemiologia , Adulto , Doenças Assintomáticas , Aterosclerose/complicações , Índice de Massa Corporal , Doença da Artéria Coronariana/complicações , Doença da Artéria Coronariana/epidemiologia , Estudos Transversais , Diabetes Mellitus Tipo 1/complicações , Feminino , Humanos , Masculino , Região do Mediterrâneo/epidemiologia , Pessoa de Meia-Idade , Prevalência , Vitamina D/análogos & derivados , Vitamina D/sangue , Deficiência de Vitamina D/complicações
14.
PLoS One ; 9(8): e104174, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25127456

RESUMO

Data on the prevalence of benign and malignant nodular thyroid disease in patients with acromegaly is a matter of debate. In the last decade an increasing incidence of thyroid cancer has been reported. The aim of this study was to evaluate the prevalence of goiter, thyroid nodules and thyroid cancer in a large series of patients with acromegaly with a cross-sectional study with a control group. Six Spanish university hospitals participated. One hundred and twenty three patients (50% men; mean age 59±13 years; disease duration 6.7±7.2 years) and 50 controls (51% males, mean age 58±15 years) were studied. All participants underwent thyroid ultrasound and fine needle aspiration. Cytological analysis was performed in suspicious nodules between 0.5 and 1.0 cm and in all nodules greater than 1.0 cm. Goiter was more frequently found in patients than in controls (24.9 vs. 8.3%, respectively; p<0.001). Nodular thyroid disease as well as nodules greater than 1 cm were also more prevalent in acromegalic patients (64.6%, vs. 28.6%, p<0.05 and 53.3 vs. 28.6%, respectively; p<0.05), and all underwent fine needle aspiration. Suspicious cytology was detected in 4 patients and in none of the controls. After thyroidectomy, papillary thyroid carcinoma was confirmed in two cases (3.3% of patients with thyroid nodules), representing 1.6% of the entire group of patients with acromegaly (2.4% including a case with previously diagnosed papillary thyroid carcinoma). These data indicated that thyroid nodular disease and cancer are increased in acromegaly, thus justifying its routine ultrasound screening.


Assuntos
Acromegalia/complicações , Neoplasias da Glândula Tireoide/complicações , Neoplasias da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/complicações , Nódulo da Glândula Tireoide/patologia , Acromegalia/diagnóstico , Idoso , Estudos Transversais , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tamanho do Órgão , Glândula Tireoide/diagnóstico por imagem , Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/diagnóstico por imagem , Ultrassonografia
15.
Nutrition ; 30(10): 1144-50, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24976416

RESUMO

OBJECTIVE: The association of dairy food consumption with the risk for developing cardiovascular disease (CVD) has been investigated in many studies, but results often have been contradictory. The aim of the present study was to determine whether genetic polymorphisms are associated with interindividual variation in the response of CVD risk biomarker values after milk consumption. METHODS: Fourteen single nucleotide polymorphisms (SNPs) in nine genes related to lipid metabolism were examined in 161 volunteers randomly allocated to consume either 500 mL/d of skimmed (S) or semi-skimmed (SS) milk for 1 year in addition to their usual diets. Total cholesterol/high-density lipoprotein cholesterol (TC/HDL-C) and low-density lipoprotein/HDL-C ratios were used as biomarkers of CVD risk. Three-way repeated-measures analysis of variance was used to examine the effect of time, treatment (S or SS), and genotype on these biomarkers. RESULTS: A TT genotype for the proliferator-activated receptor alpha polymorphism (PPARA rs135549 SNP) was significantly associated with a reduction in the TC/HDL and LDL/HDL ratios after 12 mo of S milk intake (mean reduction -0.29, 95% confidence interval [CI], -0.63 to 0.05; P = 0.0015 and -0.31, 95% CI, -0.58 to -0.03; P = 0.0005, respectively). However, no differences were observed after consuming either S or SS milk in the C allele carriers. CONCLUSIONS: Saturated fatty acid consumption has long been linked to an increased risk for CVD; indeed, the consumption of saturated fat-free products is recommended as a means of reducing this risk. However, the present results suggest that many individuals might not benefit from such general recommendations. Genetic analysis of PPARA rs135549 might help identify those individuals who are more likely to benefit from reducing the saturated fatty acid content of their diet.


Assuntos
Doenças Cardiovasculares/etiologia , Colesterol/sangue , Gorduras na Dieta/efeitos adversos , Ácidos Graxos/efeitos adversos , Leite/química , PPAR alfa/genética , Polimorfismo de Nucleotídeo Único , Adulto , Idoso , Animais , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/genética , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Feminino , Genótipo , Humanos , Metabolismo dos Lipídeos/genética , Masculino , Pessoa de Meia-Idade , PPAR alfa/metabolismo
16.
Clin Endocrinol (Oxf) ; 81(6): 883-90, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24612232

RESUMO

BACKGROUND: Pegvisomant is an effective treatment for acromegaly. OBJECTIVE: To investigate escape (loss of biochemical control in patients previously controlled) and lipodystrophy in acromegalic patients treated with pegvisomant and to evaluate possible associations with clinical features. PATIENTS AND METHODS: Multicentre retrospective study involving 19 Spanish centres. RESULTS: Ninety-seven patients were included (59% women, mean age at diagnosis 42 ± 13 years, 80% macroadenomas); mean follow-up on pegvisomant was 5 ± 2·5 years, and 89 (92%) achieved normal IGF-1. Escape was reported in 30/89 (34%) of responders, after a mean treatment duration of 25 ± 21 months. The mean initial dose of pegvisomant was 11 ± 5 mg/day, and mean dose at escape was 14 ± 7 mg/day. Most patients (26/30, 87%) achieved control with dose increase (57%), additional medical treatment (3%) or both (27%). Mean new dose that controlled IGF-1 after escape was 20 ± 7 mg/day. Treatments associated were somatostatin analogues (SSA in 47%), cabergoline (CAB in 47%) and both (6%). Lipodystrophy was observed in 15 patients (13 females), mild in six, moderate in six, severe in three and persistent in four. Among patients with lipodystrophy, three escaped and three were nonresponders to pegvisomant. Four patients discontinued the drug, and four had dose reductions because of lipodystrophy. It tended to be more frequent in females (P = 0·06) and in patients treated with triple association SSA+CAB+PEG (P = 0·018). No relationship between escape and clinical variables was found, except prior CAB (P = 0·04) and metformin treatment (0·02) and grade of lipodystrophy (P = 0·02). CONCLUSIONS: A significant proportion of patients treated with pegvisomant escaped (34%); however, the majority (87%) was easily controlled with either dose increase, further medical treatment or both. Lipodystrophy developed in 15%, mostly females, and influenced the response to treatment.


Assuntos
Adenoma/tratamento farmacológico , Adenoma Hipofisário Secretor de Hormônio do Crescimento/tratamento farmacológico , Hormônio do Crescimento Humano/análogos & derivados , Lipodistrofia/induzido quimicamente , Receptores da Somatotropina/antagonistas & inibidores , Adenoma/metabolismo , Adulto , Antineoplásicos/uso terapêutico , Cabergolina , Quimioterapia Combinada , Ergolinas/uso terapêutico , Feminino , Adenoma Hipofisário Secretor de Hormônio do Crescimento/metabolismo , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Injeções Subcutâneas , Fator de Crescimento Insulin-Like I/metabolismo , Masculino , Pessoa de Meia-Idade , Octreotida/uso terapêutico , Estudos Retrospectivos , Espanha , Falha de Tratamento , Resultado do Tratamento
17.
Diabetes Care ; 37(3): 814-20, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24135385

RESUMO

OBJECTIVE: To evaluate the presence of early carotid and coronary atherosclerosis in asymptomatic patients with type 1 diabetes with no history of ischemic heart disease. RESEARCH DESIGN AND METHODS: One hundred and fifty patients with type 1 diabetes (58% males; 38.6 ± 8.1 years, 20.4 ± 8.1 years of evolution; HbA1c 8.1 ± 2.3%; 52% nonsmokers; 26% retinopathy; 9% microalbuminuria) and 50 nondiabetic control subjects age and sex matched were studied. Carotid ultrasonography to determine common carotid artery intima-media thickness (c-IMT) and the presence of atheroma plaques and cardiac computed tomography for calcium analysis and quantification (coronary artery calcium score [CACS]) were performed. RESULTS: Most patients with type 1 diabetes and control subjects displayed a CACS of 0 (82 vs. 92%). Patients with type 1 diabetes with CACS ≥1 were older and had higher HbA1c (44.5 ± 5.1 vs. 36.7 ± 8.1 years [P < 0.001] and 8.5 ± 1.1 vs. 7.8 ± 1.0% [P < 0.003], respectively) and longer evolution of diabetes (25.4 ± 9.2 vs. 19.3 ± 7.4 years, P < 0.005) and mean c-IMT (0.67 ± 0.18 vs. 0.53 ± 0.11 mm, P < 0.001) compared with patients with CACS of 0. Smoking (P < 0.02), nephropathy (P < 0.05), retinopathy (P < 0.05), and male sex (P < 0.03) were significantly and positively associated with CACS ≥1. Mean c-IMT was significantly higher in patients with type 1 diabetes (0.55 ± 0.14 vs. 0.48 ± 0.14 mm, P < 0.01), and 11% of them presented atheroma plaques (8% of control subjects). Multivariant logistic regression analysis showed that c-IMT was related to CACS (ß = 6.87, P < 0.001). CONCLUSIONS: A small percentage of patients with type 1 diabetes showed data suggestive of subclinical atherosclerosis. Universal screening of coronary disease in this population is not justified. Carotid ultrasonography may be useful for screening in the subset of patients with cardiovascular risk factors and long disease evolution.


Assuntos
Doenças Assintomáticas/epidemiologia , Aterosclerose/epidemiologia , Diabetes Mellitus Tipo 1/epidemiologia , Adulto , Albuminúria/complicações , Albuminúria/epidemiologia , Aterosclerose/diagnóstico por imagem , Aterosclerose/etiologia , Artéria Carótida Primitiva/diagnóstico por imagem , Espessura Intima-Media Carotídea , Estudos de Casos e Controles , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/diagnóstico por imagem , Grupo com Ancestrais do Continente Europeu/estatística & dados numéricos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Radiografia , Fatores de Risco , Adulto Jovem
18.
Eur J Endocrinol ; 168(1): 9-13, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23038625

RESUMO

OBJECTIVE: Most cases of familial isolated pituitary adenomas with mutated aryl hydrocarbon receptor-interacting protein (AIP:HGNC:358) gene develop somatotropinomas. They are characterised by an aggressive clinical phenotype including early age at diagnosis, large tumours and frequent invasiveness. There is little information on AIP gene mutations' prevalence in isolated somatotropinomas characterised by poor response to somatostatin analogue treatment. The aim of this study was to investigate the prevalence of AIP mutations in non-familial cases of somatotropinomas with poor response to conventional treatment. DESIGN AND METHODS: Fifty patients with acromegaly (22 males/28 females, age 51±18 years) and 60 controls were included in this study performed at eight University Hospitals in Spain. None had family history of pituitary adenomas or other endocrine tumors. All patients failed to respond to conventional treatment including surgery and somatostatin analogues. Some patients received adjuvant radiotherapy and most cases required pegvisomant (PEG) treatment for normalisation of IGF1. AIP analysis was performed in DNA extracted from peripheral leucocytes, using standardised PCR protocol in which the coding regions of exons 1, 2, 3, 4, 5 and 6 were amplified. Possible deletions/duplications were studied using multiplex ligation-dependent probe amplification. RESULTS: SEQUENCE CHANGES OF POTENTIAL DIFFERENT SIGNIFICANCE THAT COULD BE CONSIDERED AS MUTATIONS OR VARIATIONS OF UNKNOWN SIGNIFICANCE (VUS) OF THE AIP GENE WERE FOUND IN FOUR PATIENTS (8%). IN TWO CASES, TWO DIFFERENT MUTATIONS PREVIOUSLY DESCRIBED WERE FOUND: p.Arg9Gln and p.Phe269Phe. Two other VUS were also found: c.787+24C>T in intron 5 and c.100-18C>T in intron 1. Age at diagnosis ranged from 21 to 50 years old, and in all patients, the tumor was a macroadenoma depicting IGF1 normalisation under PEG treatment. CONCLUSIONS: AIP germline mutations show a low, but non-negligible, prevalence in non-familial acromegaly patients with tumors resistant to treatment with somatostatin analogues.


Assuntos
Acromegalia/genética , Adenoma Hipofisário Secretor de Hormônio do Crescimento/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Acromegalia/tratamento farmacológico , Adenoma/tratamento farmacológico , Adenoma/genética , Adulto , Idoso , Resistencia a Medicamentos Antineoplásicos , Feminino , Mutação em Linhagem Germinativa , Adenoma Hipofisário Secretor de Hormônio do Crescimento/tratamento farmacológico , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase Multiplex , Somatostatina/análogos & derivados , Somatostatina/uso terapêutico
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