171 research outputs found
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Osteochondral lesions in Wilsons disease: case report and literature review.
BACKGROUND: Wilsons disease (WD) is a rare genetic disorder characterized by copper accumulation in the body, leading to a spectrum of health issues, such as liver disease, neurological disturbances, and psychiatric disorders. In recent years, there has been increasing recognition that WD can also result in osteoarticular defects. Research has shed light on the potential of WD to cause these findings, which in some instances, can progress to osteoarthritis and persistent pain. However, the exact pathophysiological process through which WD leads to osteochondral defects remains unclear. CASE DESCRIPTION: We present a case of a 30-year-old male diagnosed with WD exhibiting musculoskeletal symptoms. The patients medical history revealed chronic intermittent knee pain. Radiographic and magnetic resonance imaging (MRI) studies revealed a substantial osteochondral lesion with high-grade chondral fissuring. This report reviews the proposed pathophysiology of orthopedic pathology in WD, offers an updated literature review, and provides clinical recommendations for management. Treatment options including nonsurgical options and surgery are discussed. CONCLUSIONS: This case underscores the significance of identifying the orthopedic manifestations of WD, even in the absence of classic signs and symptoms. Any WD patient suspected of having osteoarticular defects should be thoroughly evaluated, with a low threshold for initiating imaging studies. Moreover, treatment plans should be tailored to the patients specific presentation, emphasizing the importance of individualized patient care. This case highlights key findings in WD and provides important insights, particularly on the clinical relevance of osteoarticular defects in WD, the potential application of nonsurgical and surgical treatments, and the importance of individualized patient care in the management of WD
Using systems-mapping to address Adverse Childhood Experiences (ACEs) and trauma: A qualitative study of stakeholder experiences
Adverse childhood experiences (ACEs) and trauma have been linked to decreased psychosocial and physiological health functioning. While various individual and community-level interventions to address ACEs have been reported, one novel approach that has not been explored in detail is a community-engaged causal loop diagramming project, or systems mapping project (SMP), in which diverse stakeholders work together to document the forces that are creating the outcomes and patterns within the community. To better document and understand the impact of participation in an SMP, we conducted in-depth, qualitative interviews with 16 stakeholders who were involved in a systems-mapping process facilitated by a local nonprofit in Eastern North Carolina. We used an iterative, content analysis coding process to generate and analyze themes from these interviews. Three major themes emerged: 1) Recognition and understanding of own trauma, 2) Trauma as both a community issue and an individual issue, and 3) Systems-mapping as a conceptual tool with practical benefits. All participants strongly recommended the systems-mapping approach to other communities and believed that it is a valuable tool for empowerment and provided several considerations for future organizers of similar systems-mapping projects. Our findings suggest that systems mapping is a feasible, transferable, and promising modality for understanding and addressing ACEs at the individual, interpersonal, and community-levels, as well as for putting community voices at the forefront of efforts to address ACEs
The Relationship between Proteinuria and Coronary Risk: A Systematic Review and Meta-Analysis
Vlado Perkovic and colleagues show, through a systematic review and meta-analysis of cohort studies, that there is a strong and continuous association between proteinuria and subsequent risk of coronary heart disease
Meta-analysis of the relationship between alcohol consumption and coronary heart disease and mortality in type 2 diabetic patients
Aims/hypothesis: This systematic review examines the relationship between alcohol consumption and long-term complications of type 2 diabetes. Meta-analyses could only be performed for total mortality, mortality from CHD, and CHD incidence, because the availability of articles on other complications was too limited. Materials and methods: A PubMed search through to September 2005 was performed and the reference lists of relevant articles examined. Among the relevant articles there were six cohort studies reporting on the risk of total mortality and/or fatal and/or incident CHD in alcohol non-consumers and in at least two groups of alcohol consumers. Results: Statistical pooling showed lower risks in alcohol consumers than in non-consumers (the reference category). The relative risk (RR) of total mortality was 0.64 (95% CI 0.49-0.82) in the <6 g/day category. In the higher alcohol consumption categories (6 to <18, and ≥18 g/day), the RRs of total mortality were not significant. Risks of fatal and total CHD were significantly lower in all three categories of alcohol consumers (<6, 6 to <18 and ≥18 g/day) than in non-consumers, with RRs ranging from 0.34 to 0.75. Conclusions/interpretation: This meta-analysis shows that, as with findings in the general population, moderate alcohol consumption is associated with a lower risk of mortality and CHD in type 2 diabetic populations. © Springer-Verlag 2006.
Indications for and Utilization of ACE Inhibitors in Older Individuals with Diabetes
Angiotensin-converting enzyme inhibitors (ACE) and angiotensin receptor blockers (ARB) improve cardiovascular outcomes in high-risk individuals with diabetes. Despite the marked benefit, it is unknown what percentage of patients with diabetes would benefit from and what percentage actually receive this preventive therapy. OBJECTIVES : To examine the proportion of older diabetic patients with indications for ACE or ARB (ACE/ARB). To generate national estimates of ACE/ARB use. DESIGN AND PARTICIPANTS : Survey of 742 individuals≥55 years (representing 8.02 million U.S. adults) self-reporting diabetes in the 1999 to 2002 National Health and Nutrition Examination Survey. MEASUREMENTS : Prevalence of guideline indications (albuminuria, cardiovascular disease, hypertension) and other cardiac risk factors (hyperlipidemia, smoking) with potential benefit from ACE/ARB. Prevalence of ACE/ARB use overall and by clinical indication. RESULTS : Ninety-two percent had guideline indications for ACE/ARB. Including additional cardiac risk factors, the entire (100%) U.S. noninstitutionalized older population with diabetes had indications for ACE/ARB. Overall, 43% of the population received ACE/ARB. Hypertension was associated with higher rates of ACE/ARB use, while albuminuria and cardiovascular disease were not. As the number of indications increased, rates of use increased, however, the maximum prevalence of use was only 53% in individuals with 4 or more indications for ACE/ARB. CONCLUSIONS : ACE/ARB is indicated in virtually all older individuals with diabetes; yet, national rates of use are disturbingly low and key risk factors (albuminuria and cardiovascular disease) are being missed. To improve quality of diabetes care nationally, use of ACE/ARB therapy by ALL older diabetics may be a desirable addition to diabetes performance measurement sets.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/74734/1/j.1525-1497.2006.00351.x.pd
Rs1888747 polymorphism in the FRMD3 gene, gene and protein expression: Role in diabetic kidney disease
© 2016 Buffon et al. Background: We carried out a case-control study in patients with type 2 diabetes mellitus (T2DM) to evaluate the association between seven single nucleotide polymorphisms (SNPs) previously described to be linked to diabetic kidney disease (DKD) in type 1 diabetes mellitus (T1DM). Additionally, we evaluated gene and protein expression related to the polymorphism associated with DKD. Methods: The association study included 1098 T2DM patients (718 with DKD and 380 without DKD). Out of the 13 polymorphisms associated with DKD in a previous study with T1DM, seven were chosen for evaluation in this sample: rs1888747, rs9521445, rs39075, rs451041, rs1041466, rs1411766 and rs6492208. The expression study included 91 patients who underwent nephrectomy. Gene expression was assessed by RT-qPCR and protein expression in kidney samples was quantified by western blot and it localization by immunohistochemistry. Results: The C/C genotype of rs1888747 SNP was associated with protection for DKD (OR = 0.6, 95 % CI 0.3-0.9; P = 0.022). None of the other SNPs were associated with DKD. rs1888747 is located near FRMD3 gene. Therefore, FRMD3 gene and protein expression were evaluated in human kidney tissue according to rs1888747 genotypes. Gene and protein expression were similar in subjects homozygous for the C allele and in those carrying the G allele. Conclusions: Replication of the association between rs1888747 SNP and DKD in a different population suggests that this link is not the result of chance. rs1888747 SNP is located at the FRMD3 gene, which is expressed in human kidney. Therefore, this gene is a candidate gene for DKD. However, in this study, no rs1888747 genotype or specific allele effect on gene and/or protein expression of the FRMD3 gene was demonstrated
The impact of the use of antiepileptic drugs on the growth of children
BACKGROUND: This study investigated whether long-term treatment with antiepileptic drugs (AEDs) had negative effects on statural growth and serum calcium levels in children with epilepsy in Taiwan. METHODS: Children with epilepsy treated with one prescription of AEDs (monotherapy) for at least 1 year were selected. The AEDs included valproic acid (VPA; Deparkin) in 27 children (11 boys and 16 girls) aged 4-18 years, oxcarbazepine (Trileptal) in 30 children (15 boys and 15 girls) aged 5-18 years, topiramate (Topamax) in 19 children (10 boys and 9 girls) aged 6-18 years, and lamotrigine (Lamicta) in eight children (5 boys and 3 girls) aged 5-13 years. Patients with a history of febrile convulsions were selected as the controls. RESULTS: One year of VPA treatment significantly impaired the statural growth of pediatric patients with epilepsy (p < 0.005) compared with the control group. The underlying mechanism may have been due to the direct effect of VPA on the proliferation of growth plate chondrocytes rather than alterations of serum calcium. CONCLUSIONS: These results raise serious concerns about the growth of pediatric epilepsy patients who use AEDs, and potentially the need to closely monitor growth in children with epilepsy and adolescents under AED treatment, especially VPA
Reducing Vulnerability to Abuse & Exploitation through Landed Status on Arrival for Migrant Caregivers
This submission was prepared by Rupaleem Bhuyan and Lorraine Valmadrid on behalf of the Migrant Mothers Project and community partners. On March, 2018 members of the Migrant Mothers Project Advisory with partnering individuals and community organizations took part in a consultation with Immigration, Refugees, and Citizenship Canada. The recommendations included in this submission were informed by the collective input during this consultation and by research conducted by the Migrant Mothers Project through the Caregivers’ Journeys Study.This submission is informed by research and community consultations conducted through the Caregivers’ Journeys study led by the Migrant Mothers Project at the University of Toronto. The Migrant Mothers Project is a university-community collaboration that involves a network of migrant caregivers, community leaders who have several decades experience supporting migrant caregivers, settlement service providers, and university-based academics who have expertise on immigration settlement and policy.
Caregivers’ Journeys (2015-2018) is a participatory action research study that explores how changes in the Caregiver Programs have impacted migrant caregivers access to permanent residence and working conditions that contribute to vulnerability for employer abuse and exploitation. Since 2015, we have held consultations with migrant caregivers, community leaders, and service providers in Ontario and Alberta, to understand the impacts of policy changes introduced to the Live-in-Caregiver Program in 2014 along with the creation of the newer Caregiver Program. Using a peer-research model with trained caregivers, we conducted one-on-one interviews and focus group interviews with 33 migrant caregivers in Toronto and Calgary who were working in one of Canada’s caregiver programs, on a closed or open work permit, to understand their working conditions in the program and access to permanent residence
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