Genetic Study of CHronic Kidney DIsease (CKD)
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ORGANISM(S): Homo sapiens
REPOSITORIES: dbGaP
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Project description:Biospecimen donation is key to the Precision Medicine Initiative, which pioneers a model for accelerating biomedical research through individualized care. Personalized medicine should be made available to medically underserved populations, including the large and growing US Hispanic population. We present results of a study of 140 Hispanic women who underwent a breast biopsy at a safety-net hospital and were randomly assigned to receive information and request for consent for biospecimen and data sharing by the patient's physician or a research assistant. Consent rates were high (97.1% and 92.9% in the physician and research assistant arms, respectively) and not different between groups (relative risk [RR] = 1.05, 95% confidence interval [CI] = 0.96 to 1.10). Consistent with a small but growing literature, we show that perceptions of Hispanics' unwillingness to participate in biospecimen sharing for research are not supported by data. Safety-net clinics and hospitals offer untapped possibilities for enhancing participation of underserved populations in the exciting Precision Medicine Initiative.
1000-01-01 | S-EPMC5040829 | BioStudies
Project description:<h4>Background and aim</h4>Switzerland has a low post mortem organ donation rate. Here we examine variables that are associated with the consent of the deceased's next of kin (NOK) for organ donation, which is a prerequisite for donation in Switzerland.<h4>Methods and analysis</h4>During one year, we registered information from NOK of all deceased patients in Swiss intensive care units, who were approached for consent to organ donation. We collected data on patient demographics, characteristics of NOK, factors related to the request process and to the clinical setting. We analyzed the association of collected predictors with consent rate using univariable logistic regression models; predictors with p-values <0.2 were selected for a multivariable logistic regression.<h4>Results</h4>Of 266 NOK approached for consent, consent was given in 137 (51.5%) cases. In multivariable analysis, we found associations of consent rates with Swiss nationality (OR 3.09, 95% CI: 1.46-6.54) and German language area (OR 0.31, 95% CI: 0.14-0.73). Consent rates tended to be higher if a parent was present during the request (OR 1.76, 95% CI: 0.93-3.33) and if the request was done before brain death was formally declared (OR 1.87, 95% CI: 0.90-3.87).<h4>Conclusion</h4>Establishing an atmosphere of trust between the medical staff putting forward a request and the NOK, allowing sufficient time for the NOK to consider donation, and respecting personal values and cultural differences, could be of importance for increasing donation rates. Additional measures are needed to address the pronounced differences in consent rates between language regions.
2014-01-01 | S-EPMC4160222 | BioStudies
Project description:OBJECTIVE:To describe obstetrical providers' delivery preferences and attitudes towards caesarean section without medical indication, including on maternal request, and to examine the association between provider characteristics and preferences/attitudes. DESIGN:Cross-sectional study. SETTING:Two public and two private hospitals in Argentina. POPULATION:Obstetrician-gynaecologists and midwives who provide prenatal care and/or labour/delivery services. METHODS:Providers in hospitals with at least 1000 births per year completed a self-administered, anonymous survey. MAIN OUTCOME MEASURES:Provider delivery preference for low-risk women, perception of women's preferred delivery method, support for a woman's right to choose her delivery method and willingness to perform caesarean section on maternal request. RESULTS:168 providers participated (89.8% coverage rate). Providers (93.2%) preferred a vaginal delivery for their patients in the absence of a medical indication for caesarean section. Whereas 74.4% of providers supported their patient's right to choose a delivery method in the absence of a medical indication for caesarean section and 66.7% would perform a caesarean section upon maternal request, only 30.4% would consider a non-medically indicated caesarean section for their own personal delivery or that of their partner. In multivariate adjusted analysis, providers in the private sector [odds ratio (OR) 4.70, 95% CI 1.19-18.62] and obstetrician-gynaecologists (OR 4.37, 95% CI 1.58-12.09) were more willing than either providers working in the public/both settings or midwives to perform a caesarean section on maternal request. CONCLUSIONS:Despite the ethical debate surrounding non-medically indicated caesarean sections, we observe very high levels of support, especially by providers in the private sector and obstetrician-gynaecologists, as aligned with the high caesarean section rates in Argentina. TWEETABLE ABSTRACT:Non-medically indicated c-section? 74% of sampled Argentine OB providers support women's right to choose.
2018-01-01 | S-EPMC6041183 | BioStudies
Project description:BACKGROUND:Nephronophthisis is an autosomal recessive ciliopathy and important cause of end-stage renal disease (ESRD) in children and young adults. Diagnostic delay is frequent. This study investigates clinical characteristics, initial symptoms, and genetic defects in a cohort with nephronophthisis-related ciliopathy, to improve early detection and genetic counseling. METHODS:Forty patients from 36 families with nephronophthisis-related ciliopathy were recruited at university medical centers and online. Comprehensive clinical and genotypic data were recorded. Patients without molecular diagnosis were offered genetic analysis. RESULTS:Of 40 patients, 45% had isolated nephronophthisis, 48% syndromic diagnosis, and 7% nephronophthisis with extrarenal features not constituting a recognizable syndrome. Patients developed ESRD at median 13 years (range 5-47). Median age of symptom onset was 9 years in both isolated and syndromic forms (range 5-26 vs. 5-33). Common presenting symptoms were fatigue (42%), polydipsia/polyuria (33%), and hypertension (21%). Renal ultrasound showed small-to-normal-sized kidneys, increased echogenicity (65%), cysts (43%), and abnormal corticomedullary differentiation (32%). Renal biopsies in eight patients showed nonspecific signs of chronic kidney disease (CKD). Twenty-three patients (58%) had genetic diagnosis upon inclusion. Thirteen of those without a genetic diagnosis gave consent for genetic testing, and a cause was identified in five (38%). CONCLUSIONS:Nephronophthisis is genetically and phenotypically heterogeneous and should be considered in children and young adults presenting with persistent fatigue and polyuria, and in all patients with unexplained CKD. As symptom onset can occur into adulthood, presymptomatic monitoring of kidney function in syndromic ciliopathy patients should continue until at least age 30.
2018-01-01 | S-EPMC6132874 | BioStudies
Project description:Health care is a basic human right, and Saudi Arabia affirms these rights for all its citizens.To assess the knowledge of medical students regarding health rights in Saudi Arabia.This cross-sectional study was conducted at King Abdulaziz University (KAU) from September 2015 through November 2015. A questionnaire written in English collected demographic data and included questions about reproductive health care and health rights of women and patients with cancer, senility, or special needs.Of the 267 participants, 184 (68.9%) were female, and 252 (94.4%) were Saudi. Regarding consent, 87 (32.6%) and 113 (42.3%) participants believed a female patient required the consent of a male guardian to receive medical treatment or surgery, respectively, in Saudi Arabia, and only 106 (39.7%) knew that a female patient could provide consent for a caesarean section. Sixty-six (24.7%) believed that abortion is never allowed in Islam. Only 93 (34.8%) were aware that acquired immunodeficiency syndrome (AIDS) and human immunodeficiency virus (HIV) patients had health rights, about half (144, 53.9%) knew that cancer patients have a right to full information, and most (181, 67.8%) believed that a patient had the right to withhold health information from his/her family. Approximately half were aware that cancer patients have the right to free medical treatment (138, 51.7%) or that health rights applied to special needs patients (137, 51.3%) and senile patients (122, 45.7%).The knowledge of KAU medical students regarding health rights of certain patient populations highlights the importance of health rights education in medical school.
2017-01-01 | S-EPMC5411029 | BioStudies
Project description:BACKGROUND:Chronic kidney disease (CKD) is common and increasing in prevalence. Cardiovascular disease (CVD) is a major cause of morbidity and death in CKD, though of a different phenotype to the general CVD population. Few therapies have proved effective in modifying the increased CVD risk or rate of renal decline in CKD. There are accumulating data that aldosterone receptor antagonists (ARA) may offer cardio-protection and delay renal impairment in patients with the CV phenotype in CKD. The use of ARA in CKD has therefore been increasingly advocated. However, no large study of ARA with renal or CVD outcomes is underway. METHODS:The study is a prospective randomised open blinded endpoint (PROBE) trial set in primary care where patients will mainly be identified by their GPs or from existing CKD lists. They will be invited if they have been formally diagnosed with CKD stage 3b or there is evidence of stage 3b CKD from blood results (eGFR 30-44 mL/min/1.73 m2) and fulfil the other inclusion/exclusion criteria. Patients will be randomised to either spironolactone 25 mg once daily in addition to routine care or routine care alone and followed-up for 36 months. DISCUSSION:BARACK D is a PROBE trial to determine the effect of ARA on mortality and cardiovascular outcomes (onset or progression of CVD) in patients with stage 3b CKD. TRIAL REGISTRATION:EudraCT: 2012-002672-13ISRTN: ISRCTN44522369.
2014-01-01 | S-EPMC4113231 | BioStudies
Project description:Family consent to tissue donation currently falls well below that for solid organ donation. Moreover, research suggests that Americans have limited understanding of tissue donation, an activity largely overshadowed by the more publicly visible organ donation. This research sought to identify determinants of families' consent to tissue donation.Data collection included a brief, self-administered survey completed by tissue bank staff and telephone interviews with family for a sample of tissue donor-eligible deaths reported to a national sample of 16 United States Tissue banks from 2003 to 2006. Family members (N = 1,418) and tissue bank staff (n = 226) involved in the tissue donation decision participated in the research.The families of 1,015 (71.6%) tissue donor-eligible patients consented to tissue donation; 403 (26.8%) families refused. Results revealed a multitude of associations between study variables and the donation decision. A subsequent multivariable analysis identified determinants of family consent to tissue donation, including the discussion of key donation-related issues during the request (adjusted odds ratio [AOR], 17.22; 95% confidence interval [CI], 11.61-25.54), the quality of communication during the request (AOR, 12.39; CI, 7.76-20.02), families' tissue donation attitudes and knowledge (AOR, 10.01; CI, 6.47-15.50), families' initial reactions to the request (AOR, 7.86; CI, 5.13-12.05), families' advance notice of the request (AOR, 3.95; CI, 2.41-6.46), and patient and family sociodemographic characteristics (AOR, 3.32; CI, 2.01-5.48).Family consent to tissue donation is affected by many of the same variables influencing consent to solid organ donation. Recommendations for practice are provided.
2010-01-01 | S-EPMC3530615 | BioStudies
Project description:Background:As the burden of chronic kidney disease (CKD) continues to increase, many geographically dispersed Canadians have limited access to specialist nephrology care, which tends to be centralized in major urban areas. As a result, many rural/remote-dwellers in Canada experience poor quality of care and related adverse outcomes. It is imperative to develop alternative care delivery mechanisms to ensure optimal health outcomes for all Canadians. Objective:To investigate the feasibility and effectiveness of electronic consultation (eConsult) as a new model for interactions between specialists and primary care providers (PCPs) to improve access to care for patients with CKD. Design:This is a sequential, mixed methods study that will be conducted in 3 phases. Setting:The study will be conducted across the entire province of Alberta, supported by Alberta Kidney Care (formerly, Northern and Southern Alberta Renal Programs [NARP/SARP]). Patients:Patients suffering from CKD will be included in the study. Measurements:We will assess the barriers and enablers of implementation and adoption of an e-consultation protocol to facilitate access to care for patients with CKD in Alberta with a focus on rural/remote-dwellers with CKD. We will also evaluate the impact of the eConsult system (eg, improved access to specialist care, reduction in care gaps), assess the feasibility of province-wide implementation, and compare eConsult with practice facilitation versus eConsult alone in terms of access to specialist care, quality of care, and related outcomes. Methods:The study will be conducted in 3 phases. In phase 1, we will assess the perceptions of stakeholders (ie, PCPs, nephrologists, patients, policymakers, and other care providers) to improve CKD care delivery, quality, and outcomes in Alberta with focus groups and semistructured interviews. Phase 2 will engage specific family physicians for their input on key factors and logistical issues affecting the feasibility of implementing eConsult for the care of patients with CKD. Phase 3 will provide academic detailing including practice facilitation to clinics in Alberta to assess how eConsult with practice facilitation compares with eConsult alone in terms of access to specialist care, quality of care, and related outcomes. Results:We will assess stakeholder perceptions about potential barriers to and enablers of a new eConsult and decision support system strategy, focusing on elements that are most important for the design of a feasible and implementable intervention. We will develop, pilot test, and assess the impact of the eConsult model in improving access to specialist nephrology care and the feasibility of province-wide implementation. The final phase of the project will address key challenges for optimal care for patients with CKD living in rural, remote, and underserved areas of Alberta, particularly timely referral and disease management as well as the cost-effective benefits of eConsult. Limitations:Lack of high-speed Internet in many rural and remote areas of Alberta may lead to more time spent in completing the eConsult request online versus faxing a referral the traditional way. Allied health care staff (referral coordinators, administrative staff) require training to the eConsult system, and physicians at many remote sites do not have adequate staff to handle eConsult as an added task. Conclusions:Implementation of eConsult can favorably influence referral patterns, access to care, care quality, patient outcomes, and health care costs for people with CKD. Results of this study will inform the optimization of care for rural/remote-dwellers with CKD and will facilitate future partnerships with policymakers and provincial renal programs in Alberta to ensure optimal kidney health for all residents. Trial registration:Not required.
2019-01-01 | S-EPMC6769217 | BioStudies
Project description:Background:Requests for physician-assisted death (PAD) in patients with cognitive impairment are complex and require careful consideration. Of particular difficulty is determination of whether the request is voluntary and well considered. Results:Euthanasia and physician-assisted suicide (PAS) are both legal in The Netherlands, Luxemburg, Colombia, and Canada. Euthanasia is legal in Belgium, while PAS is legal in Switzerland and Oregon, Washington, Montana, Vermont, and California (USA). Upon a PAD request, evaluation of the capacity to consent medical treatment is relevant for the decision-making process, while evaluation of testamentary capacity is appropriate before an advance euthanasia directive is written. Anosognosia assessment throughout the Alzheimer's disease continuum provides essential and relevant information regarding the voluntary and well-considered nature of the PAD request; meanwhile, early assessment of hypernosognosia or subjective cognitive decline assists in formulation of a clinical prognosis. Furthermore, the assessment of physical and psychological suffering should incorporate verbal and nonverbal cues as well as consideration of the psychosocial factors that might affect due care criteria. Conclusion:The clinical approach to a PAD request should consider the legal framework and the decision-making capacity, assess memory deficit awareness and the perception of suffering, and evaluate mental competency when considered pertinent.
2019-01-01 | S-EPMC6600029 | BioStudies
Project description:The effective coordination of health care relies on communication of confidential information about consumers between different health and community care services. However, consumers must be able to give or withhold "e-Consent" to those who wish to access their electronic health information. There are several possible forms for e-Consent. In the general consent model, a patient provides blanket consent for access to his or her information by an organization for all future information requests. Conversely, general denial explicitly denies consent for information to be used in future circumstances, and in each new episode of care, a new consent would be needed to obtain information. In the general consent with specific denial model, a patient attaches specific exclusion conditions to his or her general approval to future accesses. In contrast, in the general denial with explicit consent model, a patient issues a blanket block on all future accesses but allows the inclusion of future use under specified conditions. There also are several alternative functions for an e-Consent system. Consent could be captured as a matter of legal record. E-Consent systems could be more active by prompting clinicians to indicate that they have noted consent conditions before they access a record. Finally, the record of patient consent could be fully active and used as a gatekeeper in a distributed information environment. There probably will need to be some form of data object that is associated with patient information. This e-Consent object (or e-Co) will contain the specific conditions under which the data to which it is attached can be retrieved. Given the complexity of clinical work and the substantial variation we can expect in an individual's desire to make his or her personal medical details available, it is unlikely a "one size fits all" approach to e-Consent will work. Consequently, with a well-chosen consent design, it should be possible to balance the specific need for privacy of some of the population against the desire by others to err on the side of clinical safety, and clinicians desire to minimize the burden that an electronic consent mechanism would impose.
1000-01-01 | S-EPMC353020 | BioStudies