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1.
Curr Opin Nephrol Hypertens ; 33(1): 34-42, 2024 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-37847046

RESUMEN

PURPOSE OF REVIEW: Kidney disease is associated with major health and economic burdens worldwide, disproportionately carried by people in low and middle socio-demographic index quintile countries and in underprivileged communities. Social determinants such as education, income and living and working conditions strongly influence kidney health outcomes. This review synthesised recent research into multimodal interventions to promote kidney health equity that focus on the social determinants of health. RECENT FINDINGS: Inequity in kidney healthcare commonly arises from nationality, race, sex, food insecurity, healthcare access and environmental conditions, and affects kidney health outcomes such as chronic kidney disease progression, dialysis and transplant access, morbidity and mortality. Multimodal approaches to addressing this inequity were identified, targeted to: patients, families and caregivers (nutrition, peer support, financial status, patient education and employment); healthcare teams (workforce, healthcare clinician education); health systems (data coding, technology); communities (community engagement); and health policy (clinical guidelines, policy, environment and research). SUMMARY: The engagement of diverse patients, families, caregivers and communities in healthcare research and implementation, as well as clinical care delivery, is vital to counteracting the deleterious effects of social determinants of kidney health.


Asunto(s)
Diálisis Renal , Determinantes Sociales de la Salud , Humanos , Renta , Etnicidad , Riñón
2.
J Clin Nurs ; 32(13-14): 3445-3455, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35739638

RESUMEN

AIMS AND OBJECTIVES: To test whether the revised Wilson and Cleary model could identify which factors contribute to health-related quality of life in chronic kidney disease. BACKGROUND: Chronic kidney disease affects a person's health-related quality of life detrimentally although nursing practice informed by theory is only beginning to emerge. DESIGN: A cross-sectional study reported using the STROBE guidelines. METHODS: About 886 participants with chronic kidney disease (varying grades) completed validated measures of symptoms (renal version of the Integrated Palliative care Outcome Scale), and general health perceptions and health-related quality of life (European Quality of Life five-dimension three-level). Socio-demographic and renal characteristics were also collected. Data were analysed using descriptive statistics and structural equation modelling. RESULTS: Biological function (decreased kidney function and haemoglobin and greater number of comorbidities), directly contributed to increased symptom burden. Symptoms demonstrated strong negative relationships with both general health perceptions and health-related quality of life. General health perceptions had a direct positive relationship with health-related quality of life. As age increased, health-related quality of life decreased. The only environmental characteristic of significance was the distance between home and hospital although it was not directly associated with health-related quality of life. Overall, the model explained approximately half of the deterioration in health-related quality of life. CONCLUSIONS: The model demonstrated how various factors influence alteration of health-related quality of life in people with chronic kidney disease. Early identification of these factors could assist nurses to introduce effective management strategies into patient care plans proactively. RELEVANCE TO CLINICAL PRACTICE: Comprehensive symptom assessment needs to occur not only in kidney failure but in earlier chronic kidney disease grades to enable timely interventions targeted at improving people's wellbeing. PATIENT OR PUBLIC CONTRIBUTION: Validated interviewer administered questionnaires were completed by participants with chronic kidney disease in this study.


Asunto(s)
Calidad de Vida , Insuficiencia Renal Crónica , Humanos , Análisis de Clases Latentes , Estudios Transversales , Cuidados Paliativos/métodos
3.
J Clin Nurs ; 30(11-12): 1787-1796, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33656217

RESUMEN

AIMS AND OBJECTIVES: To compare symptoms and health-related quality of life and to examine the relationship between these as kidney function deteriorates. BACKGROUND: Chronic kidney disease is a global health problem, and while knowledge of symptom burden and health-related quality of life is understood in kidney failure (previously end-stage kidney disease), there is limited understanding about symptoms and health-related quality of life across the chronic kidney disease trajectory. DESIGN: Cross-sectional design reported using the STROBE guidelines. METHODS: Eight hundred eighty-six adults with varying levels of kidney function (chronic kidney disease grades 3b-5 including those receiving dialysis) completed the renal version of the Integrated Palliative care Outcome Scale and the Quality of Life Short Form-36 version 2. Socio-demographic and renal characteristics were also collected. Data were analysed using descriptive and inferential statistics. RESULTS: Participants had a mean age of 57 years and were mostly male. Regardless of chronic kidney disease grade, pain, poor mobility, weakness, anxiety and depression were the most prevalent and severe symptoms reported. Health-related quality of life was significantly associated with physical and psychological symptom scores. As kidney function deteriorated, both physical and mental health-related quality of life decreased, and prevalence and severity of symptoms increased. CONCLUSIONS: There is substantial symptom burden irrespective of chronic kidney disease grade, which overwhelmingly affects health-related quality of life. Early identification by nurses would enable proactive management plans to be implemented. RELEVANCE TO CLINICAL PRACTICE: Nurses, whether in specialist renal services or in primary healthcare, are ideally placed to regularly assess symptoms and health-related quality of life in those with chronic kidney disease. Timely assessment could assist in the targeting of earlier interventions designed to reduce symptom burden and to increase health-related quality of life.


Asunto(s)
Calidad de Vida , Diálisis Renal , Adulto , Estudios Transversales , Femenino , Humanos , Recién Nacido , Riñón , Masculino , Cuidados Paliativos
4.
Nephron ; 148(1): 34-42, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37429259

RESUMEN

INTRODUCTION: Chronic kidney disease (CKD) affects people across their lifespan. Kidney supportive care (KSC) is typically offered for older people for symptom management, education, and/or advance care planning (ACP). However, younger people may also benefit from KSC. This study sought to explore characteristics of working-age adults with CKD accessing KSC. METHODS: Using a cross-sectional design, working-age adults (18-64 years) with CKD referred to a KSC service from February 2016 to July 2021 were included. Demographic and clinical data were extracted from patients' hospital records. Self-reported symptoms (Integrated Palliative Care Outcome Scale renal [IPOS-renal]) and health-related quality of life (European quality of life [EQ-5D-5L]) were assessed. Reasons for referral to KSC, kidney replacement therapy (KRT) pathway at referral, and comorbidity calculated using the Charlson Comorbidity Index were also assessed. RESULTS: One Hundred Fifty-six working-age adults attended the KSC service. Median age was 57 years, with more than half receiving KRT. Weakness (92.2%), poor mobility (83.3%), and pain (82.5%) were the most prevalent and severe symptoms. The majority were referred for symptom management (n = 83, 53.2%) and 27% for ACP (n = 42). The ACP completion rate was low (28.9%). Those on dialysis had significantly higher symptom scores than those not receiving dialysis (p < 0.05). CONCLUSION: Working-age adults with CKD experience a significant and debilitating symptom burden and need to consider options for treatment. This study provides new understanding about working-age adults with CKD that may help provide the specific support needed to meet their end-of-life care needs.


Asunto(s)
Calidad de Vida , Insuficiencia Renal Crónica , Adulto , Humanos , Anciano , Persona de Mediana Edad , Adolescente , Adulto Joven , Estudios Transversales , Carga Sintomática , Diálisis Renal , Insuficiencia Renal Crónica/terapia , Insuficiencia Renal Crónica/diagnóstico , Cuidados Paliativos , Riñón
5.
Clin Endocrinol (Oxf) ; 79(1): 128-33, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23106348

RESUMEN

CONTEXT: Individuals with Prader-Willi syndrome (PWS) have a high cardiovascular risk, the mechanism of which is unclear. There may be dysfunction in the autonomic nervous system (ANS) in PWS. OBJECTIVE: To measure, as indicators of cardiac autonomic function, postprandial heart rate variability (HRV) and arterial stiffness in adults with PWS. METHODS: Ten adults with PWS were compared with 11 matched healthy obese subjects and 9 healthy lean subjects. Electrocardiographic traces and arterial stiffness were recorded over a period of 10 minutes at -60, 0, 30, 60, 120 and 240 minutes after consumption of a standardized 600-kCal breakfast. Frequency domain analysis was performed using fast Fourier transform to estimate power spectral density in the full spectrum and in low-frequency (LF 0·04-0·15 Hz) and high-frequency (HF 0·15-0·40 Hz) bands. RESULTS: ANCOVA revealed a reduced LF HRV meal response in adults with PWS compared with obese controls, with no differences in HF HRV, LF/HF ratio, heart rate, total power or arterial stiffness meal responses. CONCLUSIONS: This study assessed cardiac autonomic function in adults with PWS compared with matched obese and lean subjects in response to a meal. Results suggest impaired postprandial ANS responsiveness in PWS, which could contribute to both the known increased cardiovascular risk and obesity.


Asunto(s)
Sistema Nervioso Autónomo/fisiopatología , Corazón/fisiopatología , Obesidad/fisiopatología , Periodo Posprandial/fisiología , Síndrome de Prader-Willi/fisiopatología , Adulto , Análisis de Varianza , Glucemia/metabolismo , Composición Corporal , Enfermedades Cardiovasculares/sangre , Enfermedades Cardiovasculares/fisiopatología , Electrocardiografía , Femenino , Corazón/inervación , Frecuencia Cardíaca/fisiología , Humanos , Insulina/sangre , Masculino , Síndrome de Prader-Willi/sangre , Factores de Riesgo , Rigidez Vascular/fisiología
6.
J Ren Care ; 2023 Aug 13.
Artículo en Inglés | MEDLINE | ID: mdl-37573481

RESUMEN

BACKGROUND: Living with chronic kidney disease is stressful as the disease and its treatments impact on everyday physical, psychological, and social activities. As this disease has a long trajectory, it is important to understand everyday life experiences of those at different points along this trajectory. OBJECTIVES: To explore the impact of chronic kidney disease and its treatment on everyday life. DESIGN: Descriptive qualitative design PARTICIPANTS: Twenty-five adults with chronic kidney disease across various grades were purposively recruited. APPROACH: Data were collected using semistructured interviews. Deductive content analysis informed by the revised Wilson and Cleary model was used to analyse data. FINDINGS: There were four themes. Theme 1, experiencing deterioration of kidney function, reflected the physical and psychological problems experienced by participants. Theme 2, changes that happened to me and my family, explained the subsequent limitations in their physical, social and role functioning. Theme 3, responding to a new normal, identified adjustments needed in everyday life to cope with the disease and its treatments. The final theme, thinking ahead and making a decision, captured the future plans and decisions needed while living with chronic kidney disease. CONCLUSIONS: People with chronic kidney disease experience complex challenges such as greater symptom burden and functional limitations across the disease grades which impact on their everyday life. Nurses' recognition of these challenges is crucial for identifying and addressing unmet needs. Early individualised interventions, such as routine symptom assessment and management strategies that improve the wellbeing of people are needed.

7.
J Ren Care ; 48(2): 93-101, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34227741

RESUMEN

BACKGROUND: Little is known of the prevalence or associated factors of cognitive impairment in people with kidney failure. Assessment of cognition is necessary to inform comprehension of healthcare information, aptitude for dialysis modality and informed decision making. OBJECTIVES: This study sought to determine the prevalence and factors associated with cognitive impairment in people with kidney failure. DESIGN: Prospective cross-sectional. PARTICIPANTS: Participants (n = 222) with chronic kidney disease grade 5 (CKD G5) including those not treated with dialysis, those undertaking dialysis independently or in a facility (CKD 5D), and those with a kidney transplant (CKD 5T). MEASUREMENTS: Data were collected using the Montreal Cognitive Assessment tool, the Hospital Anxiety and Depression Scale (only the depression subscale), and a demographic questionnaire. Type of kidney disease and comorbidities were extracted from participants' hospital records. RESULTS: Participants were 61 ± 13.63 years old; most were male (61.26%), and diabetes was the primary cause of kidney disease (34%). Prevalence of cognitive impairment was 34% although it was significantly higher for those in CKD G5 compared with other groups. A number of factors were found to be associated with cognitive impairment including, age, diabetes, hypertension, education, haemoglobin, albumin, parathyroid hormone, CKD G5, and length of time on treatment. CONCLUSIONS: Cognitive impairment in kidney failure is common and it has significant implications for informed decision making and treatment choices. Routine assessment of cognitive function is an important part of clinical practice.


Asunto(s)
Disfunción Cognitiva , Diabetes Mellitus , Fallo Renal Crónico , Insuficiencia Renal Crónica , Anciano , Disfunción Cognitiva/complicaciones , Disfunción Cognitiva/epidemiología , Estudios Transversales , Femenino , Humanos , Fallo Renal Crónico/terapia , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Diálisis Renal/efectos adversos , Insuficiencia Renal Crónica/complicaciones , Insuficiencia Renal Crónica/psicología , Insuficiencia Renal Crónica/terapia
8.
J Ren Care ; 46(2): 74-84, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-31680483

RESUMEN

BACKGROUND: People with chronic kidney disease (CKD) experience a wide range of symptoms due to reduced kidney function. As the disease progresses these symptoms become more burdensome and often negatively affect a person's health-related quality of life (HRQoL). OBJECTIVE: To examine the evidence of symptoms and HRQoL in CKD stages 1-5 and the relationships between these. METHODS: Studies published in English from January 2008 to July 2018 using six databases (PubMed, MEDLINE, CINAHL, PsycINFO, Cochrane Library and JBI Library) were searched. RESULTS: Thirteen studies were included in this review although only three had interventional designs. By considering symptom experience and HRQoL together, four studies found that HRQoL decreased when symptoms increased. Feeling washed out, fatigue and drowsiness were found to be the most common symptoms reported. Only two studies reported follow-up measurements although six studied how symptoms change over time. None of the studies examined the change of symptoms over time across the different CKD stages. The majority of studies showed a decline in physical HRQoL and improvement in mental HRQoL over time. Nutritional and exercise interventions showed some improvements in symptom experience and HRQoL. CONCLUSIONS: Only four studies were found that reported the relationship between symptoms and HRQoL of those with CKD. Of these, in view of symptom experience and HRQoL together, HRQoL decreased when symptoms increased. However, more research is warranted to establish a clear understanding of the relationship between symptoms and HRQoL in CKD to enable the design of appropriate interventions.


Asunto(s)
Calidad de Vida/psicología , Insuficiencia Renal Crónica/complicaciones , Humanos , Insuficiencia Renal Crónica/psicología
9.
J Palliat Care ; 35(3): 176-184, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-31456473

RESUMEN

Kidney supportive care (KSC) is a patient-centered model of multidisciplinary care designed for patients with advanced chronic kidney disease (CKD) and end-stage kidney disease (ESKD). Our goal was to characterize the types, frequencies, and costs of services accessed by patients enrolled in a KSC program. We analyzed health care utilization data prospectively collected from 102 patients who enrolled in the KSC program during the first 52 weeks of its existence. The data comprised program appointments, emergency department presentations, ambulance service use, outpatient visits, inpatient episodes, and dialysis treatments made within the Brisbane area of Metro North. Costs of resource use were estimated using Queensland Health funding principles and guidelines. Analyses included descriptive statistics, correlations, and multivariate regressions. During the median program participation of 22 weeks, patients had 3975 contacts with health care, with the total value of services amounting to nearly A$3 million. Dialysis treatments accounted for 70% of visits and 49% of costs. Patients receiving dialysis had higher utilization of outpatient services and associated cost, compared to patients who were not dialyzed. The presence of diabetes and the choice of conservative pathway were both predictors of higher frequency and cost of services. Longer program participation was associated with lower weekly utilization and cost. The program attracted patients representing various characteristics, pathways, needs, and outcomes. Exploring these patterns will enable better understanding of the patient population and improved service planning, in KSC and similar programs that aim to comprehensively address the needs of patients with advanced CKD and ESKD.


Asunto(s)
Atención a la Salud/economía , Costos de la Atención en Salud/estadística & datos numéricos , Fallo Renal Crónico/economía , Fallo Renal Crónico/terapia , Aceptación de la Atención de Salud/estadística & datos numéricos , Diálisis Renal/economía , Insuficiencia Renal Crónica/economía , Insuficiencia Renal Crónica/terapia , Adulto , Anciano , Anciano de 80 o más Años , Atención a la Salud/estadística & datos numéricos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Queensland , Diálisis Renal/estadística & datos numéricos , Estudios Retrospectivos
10.
BMJ Qual Saf ; 29(1): 64-76, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31548278

RESUMEN

BACKGROUND: Experience-based codesign (EBCD) is an approach to health service design that engages patients and healthcare staff in partnership to develop and improve health services or pathways of care. The aim of this systematic review was to examine the use (structure, process and outcomes) and reporting of EBCD in health service improvement activities. METHODS: Electronic databases (MEDLINE, CINAHL, PsycINFO and The Cochrane Library) were searched to identify peer-reviewed articles published from database inception to August 2018. Search terms identified peer-reviewed English language qualitative, quantitative and mixed methods studies that underwent independent screening by two authors. Full texts were independently reviewed by two reviewers and data were independently extracted by one reviewer before being checked by a second reviewer. Adherence to the 10 activities embedded within the eight-stage EBCD framework was calculated for each study. RESULTS: We identified 20 studies predominantly from the UK and in acute mental health or cancer services. EBCD fidelity ranged from 40% to 100% with only three studies satisfying 100% fidelity. CONCLUSION: EBCD is used predominantly for quality improvement, but has potential to be used for intervention design projects. There is variation in the use of EBCD, with many studies eliminating or modifying some EBCD stages. Moreover, there is no consistency in reporting. In order to evaluate the effect of modifying EBCD or levels of EBCD fidelity, the outcomes of each EBCD phase (ie, touchpoints and improvement activities) should be reported in a consistent manner. TRIAL REGISTRATION NUMBER: CRD42018105879.


Asunto(s)
Personal de Salud/organización & administración , Administración de los Servicios de Salud , Participación del Paciente/métodos , Mejoramiento de la Calidad/organización & administración , Humanos , Capacitación en Servicio/organización & administración , Percepción , Evaluación de Programas y Proyectos de Salud , Participación de los Interesados
11.
J Clin Med ; 8(5)2019 May 08.
Artículo en Inglés | MEDLINE | ID: mdl-31071971

RESUMEN

BACKGROUND: Large cohort longitudinal studies have almost unanimously concluded that metabolic health in obesity is a transient phenomenon, diminishing in older age. We aimed to assess the fate of insulin sensitivity per se over time in overweight and obese individuals. METHODS: Individuals studied using the hyperinsulinaemic-euglycaemic clamp at the Garvan Institute of Medical Research from 2008 to 2010 (n = 99) were retrospectively grouped into Lean (body mass index (BMI) < 25 kg/m2) or overweight/obese (BMI ≥ 25 kg/m2), with the latter further divided into insulin-sensitive (ObSen) or insulin-resistant (ObRes), based on median clamp M-value (M/I, separate cut-offs for men and women). Fifty-seven individuals participated in a follow-up study after 5.4 ± 0.1 years. Hyperinsulinaemic-euglycaemic clamp, dual-energy X-ray absorptiometry and circulating cardiovascular markers were measured again at follow-up, using the same protocols used at baseline. Liver fat was measured using computed tomography at baseline and proton magnetic resonance spectroscopy at follow-up with established cut-offs applied for defining fatty liver. RESULTS: In the whole cohort, M/I did not change over time (p = 0.40); it remained significantly higher at follow-up in ObSen compared with ObRes (p = 0.02), and was not different between ObSen and Lean (p = 0.41). While BMI did not change over time (p = 0.24), android and visceral fat increased significantly in this cohort (ptime ≤ 0.0013), driven by ObRes (p = 0.0087 and p = 0.0001, respectively). Similarly, systolic blood pressure increased significantly over time (ptime = 0.0003) driven by ObRes (p = 0.0039). The best correlate of follow-up M/I was baseline M/I (Spearman's r = 0.76, p = 1.1 × 10-7). CONCLUSIONS: The similarity in insulin sensitivity between the ObSen and the Lean groups at baseline persisted over time. Insulin resistance in overweight and obese individuals predisposed to further metabolic deterioration over time.

12.
Artículo en Inglés | MEDLINE | ID: mdl-30186239

RESUMEN

Context: Low bone mineral density (BMD) is the most important risk factor for fragility fracture. Body weight is a simple screening predictor of difference in BMD between individuals. However, it is not clear which component of body weight, lean (LM), or fat mass (FM), is associated with BMD. People with the genetic disorder of Prader-Willi syndrome (PWS) uniquely have a reduced LM despite increased FM. Objective: We sought to define the individual impact of LM and FM on BMD by investigating subjects with and without PWS. Design, Setting and Participants: This cross-sectional study was conducted at the Clinical Research Facility of the Garvan Institute of Medical Research, with PWS and control participants recruited from a specialized PWS clinic and from the general public by advertisement, respectively. The study involved 11 adults with PWS, who were age- and sex-matched with 12 obese individuals (Obese group) and 10 lean individuals (Lean group). Main Outcome Measures: Whole body BMD was measured by dual-energy X-ray absorptiometry. Total body FM and LM were derived from the whole body scan. Differences in BMD between groups were assessed by the analysis of covariance model, taking into account the effects of LM and FM. Results: The PWS group had significantly shorter height than the lean and obese groups. As expected, there was no significant difference in FM between the Obese and PWS group, and no significant difference in LM between the Lean and PWS group. However, obese individuals had greater LM than lean individuals. BMD in lean individuals was significantly lower than in PWS individuals (1.13 g/cm2 vs. 1.21 g/cm2, p < 0.05) and obese individuals (1.13 g/cm2 vs. 1.25 g/cm2, p < 0.05). After adjusting for both LM and FM, there was no significant difference in BMD between groups, and the only significant predictor of BMD was LM. Conclusions: These data from the human genetic model Prader-Willi syndrome suggest that LM is a stronger determinant of BMD than fat mass.

13.
Artículo en Inglés | MEDLINE | ID: mdl-30514718

RESUMEN

OBJECTIVES: For many people with advanced kidney disease, their physical, psychological and emotional needs remain unmet. Kidney supportive care, fully integrating specialist kidney and palliative care teams, responds to the emotional and symptom distress in this cohort who may be on a non-dialysis care pathway or on dialysis and approaching end of life. We aimed to analyse and describe the operation and patient characteristics of a new kidney supportive care programme (KSCp). METHODS: A multidisciplinary KSCp was introduced through a tertiary hospital in Brisbane, Australia. Operational information and characteristics of referred patients were collected from internal databases and electronic medical records and analysed descriptively. Patient data were collected using validated instruments to assess symptom burden, health-related quality of life, health state, functional status and performance at clinic entry and analysed descriptively. RESULTS: 129 people with advanced kidney disease were referred to the KSCp within the first year (median age 74 (range 27.7-90.5), 48.1% female, median Charlson Comorbidity Index score 7 (IQR 6-8) and mean Integrated Palliative care Outcome Scale Renal score 19.6±9.8). 59% were currently receiving dialysis. The leading reason for referral was symptom management (37%). While quality of life and health state varied considerably among the cohort, in general, these parameters were well below population norms. CONCLUSIONS: Results indicate that patients referred to the KSCp were those with a strong need for a patient-centred, integrated model of care. Shifting focus to co-ordinated, multidisciplinary care rather than discrete specialty silos appears key to addressing the challenging clinical problems in end-of-life care.

14.
Transl Pediatr ; 6(2): 88-97, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28503414

RESUMEN

BACKGROUND: The imprinted small nucleolar RNA (snoRNA) Snord116 is implicated in the aetiology of Prader-Willi syndrome (PWS), a disease associated with hyperphagia and obesity. Germline deletion of Snord116 in mice has been found to lead to increased food intake but not to the development of obesity. To determine the role of Snord116 independent of potential compensatory developmental factors, we investigated the effects of conditional adult-onset deletion of Snord116 in mice. METHODS: Deletion of Snord116 was induced at 8 weeks of age by oral administration of tamoxifen to male Snordlox/lox; ROSAcre/+ mice, with vehicle-treated mice used as controls. Body weight (BW) was monitored weekly and body composition was measured by dual-energy X-ray absorptiometry and tissue dissection. Non-fasted and fasting-induced food intake was determined, and glucose and insulin tolerance tests were performed. Twenty-four-hour energy expenditure and physical activity were assessed by indirect calorimetry. RESULTS: Adult-onset deletion of Snord116 led to reduced food intake and increased adiposity, albeit with no concomitant change in BW or lean mass compared to controls. Adult onset Snord116 deletion was also associated with worsened glucose tolerance and insulin sensitivity. CONCLUSIONS: This study identified a key role for Snord116 in feeding behaviour and growth. Further, it is likely that the effects of this gene are modulated by developmental stage, as mice with adult-onset deletion showed an opposite phenotype, with respect to food intake and body composition, to previously published data on mice with germline deletion.

15.
J Ren Care ; 43(1): 11-20, 2017 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-28156054

RESUMEN

BACKGROUND: There is growing international evidence that nurse-led chronic kidney disease (CKD) clinics provide a comprehensive approach to achieving clinical targets effective in slowing the progression of CKD. Across Queensland, Australia, these clinics have been established in many renal outpatient departments although patient satisfaction with these clinics is unknown. OBJECTIVES: To measure patient satisfaction levels with CKD nurse-led clinics. METHOD: This was a cross-sectional study undertaken at five clinics located in metropolitan, regional and remote hospitals in Queensland. Participants were >18 years of age (no upper age limit) with CKD (non-dialysis) who attended CKD nurse-led clinics over a six month period (N = 873). They completed the Nurse Practitioner Patient Satisfaction questionnaire which was modified for CKD. RESULTS: The response rate was 64.3 % (n = 561); half of the respondents were male (55.5 %), there was a median age range of 71-80 years (43.5 %) and most respondents were pensioners or retired (84.2 %). While the majority reported that they were highly satisfied with the quality of care provided by the nurse (83.8 %), we detected differences in some aspects of satisfaction between genders, age groups and familiarity with the nurse. Overall, patients' comments were highly positive with a few improvements to the service being suggested; these related to car-parking, providing more practical support, and having accessible locations. CONCLUSION: In an era of person-centred care, it is important to measure patient satisfaction using appropriate and standardised questionnaires. Our results highlight that, to improve services, communication strategies should be optimised in nurse-led clinics.


Asunto(s)
Satisfacción del Paciente , Pautas de la Práctica en Enfermería/normas , Insuficiencia Renal Crónica/enfermería , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mejoramiento de la Calidad , Queensland , Conducta de Reducción del Riesgo , Encuestas y Cuestionarios
16.
PLoS One ; 11(1): e0148155, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26824232

RESUMEN

Prader-Willi Syndrome (PWS), a maternally imprinted disorder and leading cause of obesity, is characterised by insatiable appetite, poor muscle development, cognitive impairment, endocrine disturbance, short stature and osteoporosis. A number of causative loci have been located within the imprinted Prader-Willi Critical Region (PWCR), including a set of small non-translated nucleolar RNA's (snoRNA). Recently, micro-deletions in humans identified the snoRNA Snord116 as a critical contributor to the development of PWS exhibiting many of the classical symptoms of PWS. Here we show that loss of the PWCR which includes Snord116 in mice leads to a reduced bone mass phenotype, similar to that observed in humans. Consistent with reduced stature in PWS, PWCR KO mice showed delayed skeletal development, with shorter femurs and vertebrae, reduced bone size and mass in both sexes. The reduction in bone mass in PWCR KO mice was associated with deficiencies in cortical bone volume and cortical mineral apposition rate, with no change in cancellous bone. Importantly, while the length difference was corrected in aged mice, consistent with continued growth in rodents, reduced cortical bone formation was still evident, indicating continued osteoblastic suppression by loss of PWCR expression in skeletally mature mice. Interestingly, deletion of this region included deletion of the exclusively brain expressed Snord116 cluster and resulted in an upregulation in expression of both NPY and POMC mRNA in the arcuate nucleus. Importantly, the selective deletion of the PWCR only in NPY expressing neurons replicated the bone phenotype of PWCR KO mice. Taken together, PWCR deletion in mice, and specifically in NPY neurons, recapitulates the short stature and low BMD and aspects of the hormonal imbalance of PWS individuals. Moreover, it demonstrates for the first time, that a region encoding non-translated RNAs, expressed solely within the brain, can regulate bone mass in health and disease.


Asunto(s)
Secuencia de Bases , Huesos/metabolismo , Impresión Genómica , Síndrome de Prader-Willi/genética , ARN Nucleolar Pequeño/genética , Eliminación de Secuencia , Animales , Densidad Ósea , Huesos/anomalías , Modelos Animales de Enfermedad , Femenino , Regulación del Desarrollo de la Expresión Génica , Humanos , Masculino , Ratones , Ratones Endogámicos C57BL , Ratones Noqueados , Datos de Secuencia Molecular , Neuronas/metabolismo , Neuronas/patología , Neuropéptido Y/genética , Neuropéptido Y/metabolismo , Síndrome de Prader-Willi/metabolismo , Síndrome de Prader-Willi/patología , Proproteína Convertasas/genética , Proproteína Convertasas/metabolismo , ARN Nucleolar Pequeño/metabolismo , Transducción de Señal
17.
Sci Rep ; 6: 18614, 2016 Jan 04.
Artículo en Inglés | MEDLINE | ID: mdl-26726071

RESUMEN

Prader-Willi syndrome (PWS) is the predominant genetic cause of obesity in humans. Recent clinical reports have suggested that micro-deletion of the Snord116 gene cluster can lead to PWS, however, the extent of the contributions of the encoded snoRNAs is unknown. Here we show that mice lacking Snord116 globally have low birth weight, increased body weight gain, energy expenditure and hyperphagia. Consistent with this, microarray analysis of hypothalamic gene expression revealed a significant alteration in feeding related pathways that was also confirmed by in situ hybridisation. Importantly, selective deletion of Snord116 only from NPY expressing neurons mimics almost exactly the global deletion phenotype including the persistent low birth weight, increased body weight gain in early adulthood, increased energy expenditure and hyperphagia. Mechanistically, the lack of Snord116 in NPY neurons leads to the upregulation of NPY mRNA consistent with the hyperphagic phenotype and suggests a critical role of Snord116 in the control of NPY neuronal functions that might be dysregulated in PWS.


Asunto(s)
Regulación del Apetito , ARN Nucleolar Pequeño/fisiología , Animales , Composición Corporal , Peso Corporal , Metabolismo de los Hidratos de Carbono , Dieta Alta en Grasa/efectos adversos , Ingestión de Alimentos , Metabolismo Energético , Femenino , Expresión Génica , Hipotálamo/metabolismo , Masculino , Ratones Noqueados , Neuronas/metabolismo , Neuropéptidos/genética , Neuropéptidos/metabolismo , Obesidad/etiología , Obesidad/genética
18.
Neuropeptides ; 53: 71-7, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26259850

RESUMEN

Prader-Willi syndrome (PWS) is the predominant genetic cause of obesity in humans and is associated with several behavioural phenotypes such as altered motoric function, reduced activity, and learning disabilities. It can include mood instability and, in some cases, psychotic episodes. Recently, the Snord116 gene has been associated with the development of PWS, however, it's contribution to the behavioural aspects of the disease are unknown. Here we show that male and female mice lacking Snord116 on both alleles exhibit normal motor behaviours and exploration but do display task-dependent alterations to locomotion and anxiety-related behaviours. Sociability is well developed in Snord116 deficient mice as are social recognition memory, spatial working memory, and fear-associated behaviours. No sex-specific effects were found. In conclusion, the biallelic Snord116 deficiency mouse model exhibits particular endophenotypes with some relevance to PWS, suggesting partial face validity for the syndrome.


Asunto(s)
Conducta Animal , Síndrome de Prader-Willi/genética , Síndrome de Prader-Willi/psicología , ARN Nucleolar Pequeño/genética , Alelos , Animales , Ansiedad/psicología , Cognición , Conducta Exploratoria , Femenino , Masculino , Ratones , Ratones Noqueados , Actividad Motora/genética , Reconocimiento en Psicología , Conducta Social
19.
Obesity (Silver Spring) ; 23(6): 1159-65, 2015 06.
Artículo en Inglés | MEDLINE | ID: mdl-25958986

RESUMEN

OBJECTIVE: Individuals with Prader-Willi syndrome (PWS) are commonly restricted to 60-75% of height-appropriate calorie intake because they rapidly become obese on a normal diet. This study measured changes in energy expenditure, glucose and lipid homeostasis, and metabolic flexibility in response to a meal in PWS adults. METHODS: 11 adults with PWS were compared with 12 adiposity-matched and 10 lean subjects. Indirect calorimetry was conducted at baseline and 210 min after a standardized 600 kCal breakfast to assess energy expenditure and substrate utilization. Circulating glucose, insulin, C-peptide, glucagon, nonesterified fatty acids, and triglycerides were measured up to 240 min. Insulin sensitivity and insulin secretion rate were assessed by HOMA-IR and C-peptide deconvolution, respectively. Body composition was determined by dual-energy X-ray absorptiometry. RESULTS: The PWS group had lower lean mass than the obesity control group. Corrected for lean mass, there were no differences between the PWS and obesity groups in resting metabolic rate or metabolic flexibility. Total and abdominal fat mass, insulin sensitivity, and insulin secretion rate were also similar between these groups. CONCLUSIONS: This study did not detect an intrinsic metabolic defect in individuals with PWS. Rather, lower lean mass, combined with lower physical activity, may contribute to weight gain on an apparent weight-maintenance diet.


Asunto(s)
Periodo Posprandial/fisiología , Síndrome de Prader-Willi/metabolismo , Absorciometría de Fotón , Adiposidad , Adulto , Metabolismo Basal , Composición Corporal , Péptido C/metabolismo , Metabolismo Energético , Femenino , Glucosa , Humanos , Insulina/metabolismo , Resistencia a la Insulina , Masculino , Obesidad/metabolismo , Triglicéridos
20.
Biochem Pharmacol ; 85(10): 1555-73, 2013 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-23500536

RESUMEN

Envenomation by Australian copperheads results mainly in muscle paralysis largely attributed to the presence of postsynaptic α-neurotoxins. However, poorly reversible neurotoxic effects suggest that these venoms may contain snake presynaptic phospholipase A2 neurotoxins (SPANs) that irreversibly inhibit neurotransmitter release. Using size-exclusion liquid chromatography, the present study isolated the first multimeric SPAN complex from the venom of the Australian common copperhead, Austrelaps superbus. The multimeric SPAN P-elapitoxin-As1a (P-EPTX-As1a) along with two novel monomeric SPANs and a new postsynaptic α-neurotoxin were then pharmacologically characterized using the chick biventer cervicis nerve-muscle preparation. All SPANs inhibited nerve-evoked twitch contractions at the neuromuscular junction without inhibiting contractile responses to cholinergic agonists or KCl. These actions are consistent with a prejunctional action to inhibit neurotransmitter release, without direct myotoxicity. Furthermore, the multimeric P-EPTX-As1a caused tetanic 'fade' in muscle tension under high frequency nerve stimulation, and produced a triphasic alteration to neurotransmitter release. These actions have been previously noted with other multimeric SPAN complexes such as taipoxin. Moreover, the neurotoxic α-subunit of P-EPTX-As1a shows high homology to taipoxin α-chain. Several other coagulopathic and myotoxic high mass proteins including a class PIII snake venom metalloproteinase, C-type lectin, l-amino acid oxidase, acetylcholinesterase and phospholipase B were also identified that may contribute to the overall toxicity of A. superbus venom. In conclusion, clinicians should be aware that early antivenom intervention might be necessary to prevent the onset of irreversible presynaptic neurotoxicity caused by multimeric and monomeric SPANs and that A. superbus venom is potentially capable of producing coagulopathic and myotoxic effects.


Asunto(s)
Factores Biológicos/química , Factores Biológicos/farmacología , Venenos de Crotálidos/química , Venenos de Crotálidos/farmacología , Unión Neuromuscular/efectos de los fármacos , Neurotoxinas/química , Neurotoxinas/farmacología , Transmisión Sináptica/efectos de los fármacos , Agkistrodon/fisiología , Animales , Antivenenos/farmacología , Australia , Factores Biológicos/aislamiento & purificación , Pollos , Agonistas Colinérgicos/farmacología , Cromatografía en Gel , Contracción Muscular/efectos de los fármacos , Neurotoxinas/aislamiento & purificación , Fragmentos de Péptidos/análisis , Cloruro de Potasio/farmacología , Multimerización de Proteína , Espectrometría de Masa por Láser de Matriz Asistida de Ionización Desorción
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