RESUMEN
BACKGROUND: The estrogen-related receptor alpha (ERRalpha or NR3B1) is a transcription factor from the nuclear receptor super-family, group III. The gene encoding ERRalpha (ESRRA) is located on chromosome 11q13, a region showing genetic linkage to body mass index and fat percentage. Through interaction with the peroxisome proliferator-activated receptor-gamma coactivator-1alpha (PGC-1alpha), ERRalpha regulates key enzymes involved in the beta-oxidation of fatty acids. RESULTS: By screening 48 overweight or obese subjects for variants in the exons, exon-intron boundaries and 1000 base pairs (bp) of the promoter region of ESRRA using bi-directional nucleotide sequencing, we identified seven variants. Four rare variants had minor allele frequencies (MAF) below 1%: Pro369Pro, Gly406Asp, 3'UTR+418G>A, 3'UTR+505C>A. Two single-nucleotide polymorphisms, Pro116Pro and IVS6+65C>T (MAF 15%), were in complete linkage disequilibrium (LD) (r (2)=1). We also confirmed the presence of a reported 23 bp microsatellite repeat (ESRRA23). The Pro116Pro and ESRRA23 variants were not associated with obesity, type 2 diabetes or related phenotypes in a large population-based study of 6365 Danish whites. The two variants were examined for interactions with variants in the peroxisome proliferator-activated receptor-gamma coactivator-1alpha and -beta; however, no evidence of epistatic effects between the variants was demonstrated. CONCLUSION: The ESRRA23 and Pro116Pro variants of the gene encoding ERRalpha are not associated with obesity, type 2 diabetes or related quantitative traits in the examined Danish whites.
Asunto(s)
Diabetes Mellitus Tipo 2/genética , Receptor alfa de Estrógeno/genética , Obesidad/genética , Anciano , Antropometría/métodos , Glucemia/metabolismo , Constitución Corporal , Cromosomas Humanos Par 11/genética , Análisis Mutacional de ADN/métodos , Diabetes Mellitus Tipo 2/sangre , Femenino , Predisposición Genética a la Enfermedad , Proteínas de Choque Térmico/genética , Humanos , Insulina/sangre , Desequilibrio de Ligamiento , Lípidos/sangre , Masculino , Persona de Mediana Edad , Obesidad/sangre , Coactivador 1-alfa del Receptor Activado por Proliferadores de Peroxisomas gamma , Polimorfismo de Nucleótido Simple , Carácter Cuantitativo Heredable , Factores de Transcripción/genéticaRESUMEN
AIMS: Type 1 diabetes mellitus (T1DM) is a chronic disorder primarily triggered by environmental and immunological factors in genetically susceptible individuals. Despite the fact that there are indications of common aetiological features of T1DM and type 2 diabetes (T2DM), variation in genes involved in insulin secretion and insulin signalling has to a large extent been ignored as potential modifiers in the pathogenesis of T1DM. Recent studies suggest, however, that proven T2DM susceptibility gene variants may be involved in the pathogenesis of T1DM. The objective of this study was to estimate the impact of four selected amino acid polymorphisms -IRS-1 Gly972Arg, Kir6.2 Glu23Lys, HNF-1alpha Ala98Val and PPARgamma2 Pro12Ala in a Danish population of T1DM families. METHODS: All variants were genotyped in 490 simplex- and multiplex-T1DM families applying polymerase chain reaction-restriction fragment length polymorphism, and results were evaluated by means of a transmission disequilibrium test (TDT) analysis. RESULTS: TDT analysis revealed that the Arg972 IRS-1, the Lys23 Kir6.2 and the Val98 HNF-1alpha variants were transmitted from heterozygous parents to affected probands at frequencies of 49.1%, 47.0% and 54.1%, respectively (p > 0.05 for all). This was similar to the rate of transmission to unaffected siblings. The transmission rate of the Ala12 PPARgamma2 variant to affected probands was 46.5% (p > 0.05) which differed significantly from the transmission to unaffected offspring (p = 0.024). A combined analysis of the present and published pertinent data of 1691 transmissions showed a significantly decreased transmission of the PPARgamma2 Ala12 allele to affected probands (p = 0.0045). CONCLUSIONS: The Pro12Ala variant of PPARgamma2 is associated with T1DM, the minor Ala allele conferring a reduced risk. This same finding has been reported in patients with T2DM.
Asunto(s)
Diabetes Mellitus/genética , Factor Nuclear 1-alfa del Hepatocito/genética , PPAR gamma/genética , Fosfoproteínas/genética , Polimorfismo Genético/genética , Canales de Potasio de Rectificación Interna/genética , Adolescente , Adulto , Aminoácidos/genética , Niño , Preescolar , Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 2/genética , Salud de la Familia , Predisposición Genética a la Enfermedad/genética , Pruebas Genéticas/métodos , Genotipo , Antígeno HLA-DR3/genética , Antígeno HLA-DR4/genética , Heterocigoto , Humanos , Lactante , Insulina/metabolismo , Proteínas Sustrato del Receptor de Insulina , Padres , HermanosRESUMEN
AIMS/HYPOTHESIS: Polymorphisms of the butyrylcholinesterase gene (BCHE) are reported to associate with Alzheimer's disease and a recent study found a significant association of the BCHE K variant (G1615A/Ala539Thr) with Type 2 diabetes. The objectives of our study were to examine whether the BCHE K variant is associated with Type 2 diabetes or estimates of pancreatic beta cell function in large-scale populations of glucose-tolerant Caucasians. METHODS: The variant was genotyped in association studies comprising a total of 1408 Type 2 diabetic patients and 4935 glucose-tolerant control subjects. Genotype-phenotype studies were carried out in the 4935 glucose-tolerant control subjects. RESULTS: There was no difference in allele frequency between Type 2 diabetic patients and control subjects (20.3% [95% confidence interval: 18.8-21.8] vs 20.4% [19.6-21.2], non-significant). In the genotype-phenotype studies we found no consistent association with BMI, fasting or post-OGTT plasma glucose, serum insulin or serum C-peptide levels. CONCLUSIONS/INTERPRETATION: The present study does not support the suggestion that the BCHE K polymorphism is associated with Type 2 diabetes or with estimates of pancreatic beta cell function in large-scale Danish Caucasian populations.
Asunto(s)
Butirilcolinesterasa/genética , Diabetes Mellitus Tipo 2/genética , Variación Genética , Insulina/metabolismo , Polimorfismo de Nucleótido Simple , Sustitución de Aminoácidos , Secuencia de Bases , Glucemia/metabolismo , Cartilla de ADN , Diabetes Mellitus Tipo 2/sangre , Diabetes Mellitus Tipo 2/enzimología , Frecuencia de los Genes , Genotipo , Humanos , Secreción de Insulina , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Valores de ReferenciaRESUMEN
AIMS/HYPOTHESIS: The class III allele of the variable-number-of-tandem-repeats polymorphism located 5' of the insulin gene (INS-VNTR) has been associated with Type 2 diabetes and altered birthweight. It has also been suggested, although inconsistently, that the class III allele plays a role in glucose-induced insulin response among NGT individuals. METHODS: We investigated the impact of the class III allele on Type 2 diabetes susceptibility in a case-control study involving 1462 Type 2 diabetic patients and 4931 NGT subjects. We also examined the potential impact of the class III allele in genotype-quantitative trait studies in three Danish study populations containing (i) 358 young healthy subjects; (ii) 4444 middle-aged NGT subjects, 490 subjects with IFG and 678 subjects with IGT; and (iii) 221 NGT subjects, of whom one parent had Type 2 diabetes. RESULTS: There was no difference in frequency of the class III allele or in genotype distribution between the 1462 Type 2 diabetic patients and the 4931 NGT subjects. Among the 358 young subjects the class III/III carriers had significantly reduced post-IVGTT acute serum insulin and C-peptide responses (p=0.04 and 0.03 respectively). However, among the 4444 middle-aged subjects we failed to demonstrate any association between the class III allele and post-OGTT serum insulin and C-peptide levels. CONCLUSIONS/INTERPRETATION: The class III allele of the INS-VNTR does not confer susceptibility to Type 2 diabetes or consistent alterations in glucose-induced insulin release in the examined populations, which consisted of Danish Caucasians.
Asunto(s)
Estudios de Casos y Controles , Insulina/genética , Insulina/metabolismo , Repeticiones de Minisatélite/genética , Adulto , Alelos , Peso al Nacer/fisiología , Glucemia/química , Glucemia/metabolismo , Dinamarca/etnología , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/fisiopatología , Femenino , Genotipo , Glicosiltransferasas/genética , Glicosiltransferasas/metabolismo , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo Genético , Población Blanca/genéticaRESUMEN
More than ever before, caregiving has become a salient public policy issue. A number of recent and anticipated demographic, economic and social changes have occurred that make it imperative for researchers to critically examine the impact of caregiving on family caregivers' health, behavior, emotions, and social status. Researchers at the University of Iowa College of Nursing are working to classify standardized nursing-sensitive patient outcomes for use in language development, practice, research, and education to evaluate the effectiveness of nursing interventions and clinical nursing services. This article focuses on family caregiving and the analysis of caregiver role performance in both direct and indirect care, linking outcomes and indicators, to enable nurses to promote the health of caregivers.
Asunto(s)
Cuidadores/psicología , Familia/psicología , Atención Domiciliaria de Salud/clasificación , Modelos de Enfermería , Evaluación de Resultado en la Atención de Salud , Grupos Focales , Promoción de la Salud , Humanos , RolRESUMEN
This article identifies and reviews research related to sleeplessness reported by nurses in the literature. The current state of clinical nursing research as it relates to sleep is evaluated, including the content, methodology, and implications for further research. Although the review indicates current interest in sleep by clinical nurse researchers, the number of nursing studies in the literature is limited, especially within specific areas, such as age groups and setting. Also, directions for future nursing research on sleep are recommended.
Asunto(s)
Investigación en Enfermería Clínica , Trastornos del Sueño-Vigilia/enfermería , Sueño , Adolescente , Adulto , Anciano , Enfermedad de Alzheimer/complicaciones , Actitud del Personal de Salud , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Institucionalización , Unidades de Cuidados Intensivos , Masculino , Persona de Mediana Edad , Diagnóstico de Enfermería , Investigación en Enfermería/tendencias , Embarazo/fisiología , Sueño/fisiología , Trastornos del Sueño-Vigilia/etiología , Trastornos del Sueño-Vigilia/fisiopatologíaRESUMEN
One hundred women with atypical Papanicolaou smear results were examined in a protocol of colposcopy, cervicography, cervical cultures, and wet preparations of vaginal secretions. Infections of the vagina and cervix were rare and often found in patients with coexistent cervical dysplasia. Cervicography identified many of the patients who ultimately were found to have cervical dysplasia but had high false positive and false negative rates. Forty-seven percent of the patients had cervical dysplasia or cervical condyloma. Based on this high rate of dysplasia, treatment of vaginitis and repeated cervical cytology cannot be recommended. Colposcopy represents the most appropriate approach to the patient with atypical cytology.
Asunto(s)
Prueba de Papanicolaou , Displasia del Cuello del Útero/diagnóstico , Frotis Vaginal , Colposcopía , Femenino , Humanos , Vagina/microbiologíaRESUMEN
Cervicography has been shown to be a very sensitive screening tool in the general population. Its value in screening a high-risk population was explored. One hundred five women seen with vulvar condylomata or a history thereof were offered a cervigram and Papanicolaou smear. Twelve patients had abnormal smears, whereas 53 had abnormal cervigrams. Colposcopically directed biopsies in the abnormal Papanicolaou group revealed cervical intraepithelial neoplasia (CIN) I in six patients and III in two. Cervicography-positive patients exhibited CIN I in 9 cases, II in 1 and III in 2. There was some overlap. Twelve patients had cervical condylomata without dysplasia. Cervicography, in addition to cervical cytology, should be considered for all women with vulvar condylomata.
Asunto(s)
Condiloma Acuminado/diagnóstico , Prueba de Papanicolaou , Fotograbar , Neoplasias del Cuello Uterino/diagnóstico , Frotis Vaginal , Neoplasias de la Vulva/complicaciones , Adolescente , Adulto , Carcinoma in Situ/complicaciones , Carcinoma in Situ/diagnóstico , Estudios de Evaluación como Asunto , Femenino , Humanos , Persona de Mediana Edad , Estudios Retrospectivos , Neoplasias del Cuello Uterino/complicacionesAsunto(s)
Corazón/diagnóstico por imagen , Cintigrafía/métodos , Prueba de Esfuerzo , Humanos , Masculino , Radioisótopos , TalioRESUMEN
Two patients with acute inferior myocardial infarction complicated by cardiogenic shock are presented. Cardiac catheterization 2 and 7 days after infarction, respectively, revealed a hemodynamic pattern resembling constrictive pericarditis. Right coronary occlusion proximal to the right ventricular marginal branches was present in both patients. Resolution of the constrictive hemodynamic pattern was demonstrated in the one survivor at repeat catheterization 7 weeks after infarction. The mechanism for constrictive hemodynamics in these patients is unclear.
Asunto(s)
Corazón/fisiopatología , Hemodinámica , Infarto del Miocardio/diagnóstico , Pericarditis Constrictiva/diagnóstico , Enfermedad Aguda , Presión Sanguínea , Cateterismo Cardíaco , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Infarto del Miocardio/fisiopatología , Pericarditis Constrictiva/fisiopatología , Pronóstico , Circulación Pulmonar , Pulso Arterial , Choque Cardiogénico/fisiopatologíaRESUMEN
A 68-year-old man with intermittent fever of unknown origin was found to have a systemic Saccharomyces infection, probably as a result of daily oral ingestion of the organism as brewer's yeast, a nutritional supplement. The case illustrates the potential dangers that may occur secondary to the oral ingestion of viable microorganisms, and the disease-producing potential of Saccharomyces is reaffirmed. Once again, a thorough and complete medical history was the key to resolving an unusual fever of unknown origin.