Project description:Fabry disease (FD, OMIM#301500) is a rare inborn error of the lysosomal enzyme α-galactosidase (α-Gal A, EC 3.2.1.22) and results in progressive substrate accumulation in tissues with a wide range of clinical presentations. Despite the X-linked inheritance, heterozygous females may also be affected. Hemizygous males are usually affected more severely, with an earlier manifestation of the symptoms. Rising awareness among health care professionals and more accessible diagnostics have positioned FD among the most-common inherited metabolic diseases in adults. An early and correct diagnosis of FD is crucial with a focus on personalised therapy. Preventing irreversible destruction of vital organs is the main goal of modern medicine. The aim of this study was to offer a complex report mapping the situation surrounding FD patients in Slovakia. A total of 48 patients (21 males, 27 females) with FD are registered in the Centre for Inborn Errors of Metabolism in Bratislava, Slovakia. In our cohort, we have identified three novel pathogenic variants in five patients. Three patients presented with the frameshift mutation c.736delA, and two others presented with the missense mutations c.203T>C, c.157A>C. Moreover, we present a new clinical picture of the pathogenic variant c.801+1G>A, which was previously described and associated with the renal phenotype.
Project description:ObjectiveMitral valve reconstruction (MVR) is one of the cardiosurgical procedures which cannot be substituted by any intervention owing to the quality of the quasi-anatomical, physiological repair. However, technique and strategies have changed over the years. We looked at procedural characteristics and outcome in an all-comer, non-selected cohort of patients.Methods738 out of 1.977 patients were retrospectively analyzed receiving MVR with and without concomitant procedures. The cohort was divided into three periods. P1: 2004-2009 (134 pts.); P2: 2010-2014 (294 pts.), and P3: 2015-2019 (310 pts.).ResultsEarly mortality increased from P1 to P2 and decreased from P2 to P3 (9% P1, 13% P2, 10% P3). All patients received an annuloplasty-ring. In P1 resection measures dominated. In P3 artificial chordae were dominant. Age, BMI, and risk scores correlated with early mortality. Survival rates were 66% (5-years), 55% (10-years), 44% (15-years) in P1, 63% (5-years), 50% (10-years) in P2, and 80% (5-years) in P3. Odds ratio for reduced long-term survival were concomitant venous only bypass surgery (10-years 2,701, p = 0.026). 10-year survival was positively influenced by isolated MVR (0.246, p = 0.001), concomitant isolated arterial bypass (IMA) (0.153, p = 0.051), posterior leaflet measure (0.178, p<0.001), and use of artificial chordae (5-years 0.235, p<0.001).ConclusionIndication for ring implantation remained mandatory while preference changed alongside improved designs. Procedural characteristics changed from mainly resection maneuvers to predominant use of artificial chordae. Long-term results were negatively influenced by co-morbidities and positively influenced by posterior leaflet repair and artificial chordae. MVR underwent a qualitative evolution and remains a valuable cardiosurgical procedure.
Project description:MethodsWe report trends and patterns of percutaneous cardiovascular interventions (PCI) by region for 2005-2009, with more detailed data on management of myocardial infarctions in 2009-2103, relating them to regional economic development and changes in mortality from myocardial infarction.ResultsPCIs per 100,000 population increased from 8.7 in 2005-71.3 in 2013, with considerable regional variation. In 2013 the highest rates were in the wealthiest regions, although not in some remote regions dependent on oil and mineral extraction. Between 2009 and 2013 rates of thrombolysis in those with acute myocardial infarctions potentially eligible for treatment remained broadly similar at about 28% but rates of primary revascularisation with stenting rose rapidly, from 6.5% to 23.7%. In-hospital mortality from myocardial infarction since 2009 has declined most in regions achieving highest rates of primary revascularisation.ConclusionsThe sustained investment in advanced cardiovascular technology has been associated with substantial increases in revascularisation in some but not all regions. However, rates overall remain far behind those in Western Europe. Further research is in progress to understand the reasons for these variations and the barriers to further expansion of services.
Project description:Evidence of climate-driven environmental change is increasing in Antarctica, and with it comes concern that this will propagate to impacts on biological communities. Recognition and prediction of change needs to incorporate the extent and timescales over which communities vary under extant conditions. However, few observations of Antarctic microbial communities, which dominate inland habitats, allow this. We therefore carried out the first molecular comparison of Cyanobacteria in historic herbarium microbial mats from freshwater ecosystems on Ross Island and the McMurdo Ice Shelf, collected by Captain R.F. Scott's 'Discovery' Expedition (1902-1903), with modern samples from those areas. Using 16S rRNA gene surveys, we found that modern and historic cyanobacteria assemblages showed some variation in community structure but were dominated by the same genotypes. Modern communities had a higher richness, including genotypes not found in historic samples, but they had the highest similarity to other cyanobacteria sequences from Antarctica. The results imply slow cyanobacterial 16S rRNA gene genotype turnover and considerable community stability within Antarctic microbial mats. We suggest that this relates to Antarctic freshwater 'organisms requiring a capacity to withstand diverse stresses, and that this could also provide a degree of resistance and resilience to future climatic-driven environmental change in Antarctica.
Project description:BackgroundThe Open Payments Program, as designated by the Physician Payments Sunshine Act, is the single largest repository of industry payments made to licensed physicians within the United States. Though sizeable in its dataset, the database and user interface are limited in their ability to permit expansive data interpretation and summarization.ObjectivesThe authors sought to comprehensively compare industry payments made to plastic surgeons with payments made to all surgeons and all physicians to elucidate industry relationships since implementation.MethodsThe Open Payments Database was queried between 2014 and 2019, and inclusion criteria were applied. These data were evaluated in aggregate and for yearly totals, payment type, and geographic distribution.ResultsA total 61,000,728 unique payments totaling $11,815,248,549 were identified over the 6-year study period; 9089 plastic surgeons, 121,151 surgeons, and 796,260 total physicians received these payments. Plastic surgeons annually received significantly less payment than all surgeons (P = 0.0005). However, plastic surgeons did not receive significantly more payment than all physicians (P = 0.0840). Cash and cash equivalents proved to be the most common form of payment; stock and stock options were least commonly transferred. Plastic surgeons in Tennessee received the most in payments between 2014 and 2019 (mean $76,420.75). California had the greatest number of plastic surgeons who received payments (1452 surgeons).ConclusionsPlastic surgeons received more in industry payments than the average of all physicians but received less than all surgeons. The most common payment was cash transactions. Over the past 6 years, geographic trends in industry payments have remained stable.
Project description:BackgroundFew studies have quantified multimorbidity and frailty trends within hospital settings, with even fewer reporting how much is attributable to the ageing population and individual patient factors. Studies to date have tended to focus on people over 65, rarely capturing older people or stratifying findings by planned and unplanned activity. As the UK's national health service (NHS) backlog worsens, and debates about productivity dominate, it is essential to understand these hospital trends so health services can meet them.MethodsHospital Episode Statistics inpatient admission records were extracted for adults between 2006 and 2021. Multimorbidity and frailty was measured using Elixhauser Comorbidity Index and Soong Frailty Scores. Yearly proportions of people with Elixhauser conditions (0, 1, 2, 3 +) or frailty syndromes (0, 1, 2 +) were reported, and the prevalence between 2006 and 2021 compared. Logistic regression models measured how much patient factors impacted the likelihood of having three or more Elixhauser conditions or two or more frailty syndromes. Results were stratified by age groups (18-44, 45-64 and 65 +) and admission type (emergency or elective).ResultsThe study included 107 million adult inpatient hospital episodes. Overall, the proportion of admissions with one or more Elixhauser conditions rose for acute and elective admissions, with the trend becoming more prominent as age increased. This was most striking among acute admissions for people aged 65 and over, who saw a 35.2% absolute increase in the proportion of admissions who had three or more Elixhauser conditions. This means there were 915,221 extra hospital episodes in the last 12 months of the study, by people who had at least three Elixhauser conditions compared with 15 years ago. The findings were similar for people who had one or more frailty syndromes. Overall, year, age and socioeconomic deprivation were found to be strongly and positively associated with having three or more Elixhauser conditions or two or more frailty syndromes, with socioeconomic deprivation showing a strong dose-response relationship.ConclusionsOverall, the proportion of hospital admissions with multiple conditions or frailty syndromes has risen over the last 15 years. This matches smaller-scale and anecdotal reports from hospitals and can inform how hospitals are reimbursed.
Project description:BackgroundMost older adults prefer aging in place; however, patients with advanced illness often need institutional care. Understanding place of care trajectory patterns may inform patient-centered care planning and health policy decisions. The purpose of this study was to characterize place of care trajectories during the last three years of life.MethodsLinked administrative, claims, and assessment data were analyzed for a 10% random sample cohort of US Medicare beneficiaries who died in 2018, aged fifty or older, and continuously enrolled in Medicare during their last five years of life. A group-based trajectory modeling approach was used to classify beneficiaries based on the proportion of days of institutional care (hospital inpatient or skilled nursing facility) and skilled home care (home health care and home hospice) used in each quarter of the last three years of life. Associations between group membership and sociodemographic and clinical predictors were evaluated.ResultsThe analytic cohort included 199,828 Medicare beneficiaries. Nine place of care trajectory groups were identified, which were categorized into three clusters: home, skilled home care, and institutional care. Over half (59%) of the beneficiaries were in the home cluster, spending their last three years mostly at home, with skilled home care and institutional care use concentrated in the final quarter of life. One-quarter (27%) of beneficiaries were in the skilled home care cluster, with heavy use of skilled home health care and home hospice; the remaining 14% were in the institutional cluster, with heavy use of nursing home and inpatient care. Factors associated with both the skilled home care and institutional care clusters were female sex, Black race, a diagnosis of dementia, and Medicaid insurance. Extended use of skilled home care was more prevalent in southern states, and extended institutional care was more prevalent in midwestern states.ConclusionsThis study identified distinct patterns of place of care trajectories that varied in the timing and duration of institutional and skilled home care use during the last three years of life. Clinical, socioregional, and health policy factors influenced where patients received care. Our findings can help to inform personal and societal care planning.
Project description:BackgroundIn France the most recent data on drug use by the elderly living at home were published in 2000. Since then the available drugs and their use have changed.ObjectiveWe compared data collected in 2011 with the 2000 data to evaluate how drug use has changed in France.MethodsThe study analysed retrospectively the 2011 data collected prospectively in France from a sample of 600,000 people representative (1/97th) of the French population. All prescribed drugs reimbursed by the French national health insurance were recorded. Due to the reimbursement procedure the unit of analysis was the trimester. The drugs were coded using the Anatomical Therapeutic Chemical (ATC) Classification System.ResultsData from 580,989 patients were analysed (133,411 (23.0 %) aged ≥60 years, 32,314 (5.6 %) ≥80 years). The percentage of patients who used medication increased from 55.9 % for patients in their fourth decade to 88.6 % for patients in their eighth decade, remained stable till 90 years of age and decreased to 26.3 % in centenarians. The median number of drugs prescribed was five (IQR: 3-8) in those aged under 80 years and ten (IQR: 7-14) in those aged over 80 years. Cardiovascular drugs were the most used, by 70.9, 78.1, and 69.6 % of patients aged 70-79, 80-89, and 90-99 years, respectively. Analgesics, non-steroidal anti-inflammatory drugs, and antibiotics were prescribed in almost half of the patients.ConclusionPolypharmacy is common among the elderly in France. Although this may be explained by the multiple co-morbidities, our results suggest an overuse of drugs for which the risk-benefit ratio is unknown in these age ranges. Consequently, numerous elderly patients are exposed to iatrogenic risks without the certainty of therapeutic benefits.
Project description:The stroke incidence in hemodialysis (HD) patients is high, but the associated factors remain largely unknown. This study aimed to analyze stroke incidence in HD patients and changes in risk factors. Data of 291 patients were retrospectively analyzed. The cumulative stroke incidences were 21.6% at 10 years and 31.5% at 20. Diabetic nephropathy (DN) significantly increased overall stroke (hazard ratio (HR), 2.24; 95% confidence interval (CI), 1.21-4.12; p = 0.001) and ischemic stroke (HR, 2.16; 95% CI, 1.00-4.64; p = 0.049). Patients treated with online HDF were less likely to have overall stroke (HR, 0.13; 95% CI, 0.03-0.56; p = 0.006) and ischemic stroke (HR, 0.08; 95% CI, 0.01-0.60; p = 0.014). DN (HR, 1.56; 95% CI, 1.08-2.27; p = 0.019) and age >80 years at HD initiation (20-49 years old; HR 0.13, 95% CI, 0.05-0.35, p < 0.001 and age 50-79 years; HR 0.42, 95% CI, 0.26-0.66, p < 0.001 (reference: age >80 years)) were significantly associated with stroke and/or death events. Over time, stroke risk increased in HD patients, due to the increasing number of DN. Although dialysis technology has advanced over time, these advances could not overcome other risk factors for stroke. Further increase in stroke and mortality due to aging remains a concern.
Project description:BACKGROUND:The result from the Life After Stroke (LAST) study showed that an 18-month follow up program as part of the primary health care, did not improve maintenance of motor function for stroke survivors. In this study we evaluated whether the follow-up program could lead to a reduction in the use of health care compared to standard care. Furthermore, we analyse to what extent differences in health care costs for stroke patients could be explained by individual need factors (such as physical disability, cognitive impairment, age, gender and marital status), and we tested whether a generic health related quality of life (HRQoL) is able to predict the utilisation of health care services for patients post-stroke as well as more disease specific indexes. METHODS:The Last study was a multicentre, pragmatic, single-blinded, randomized controlled trial. Adults (age ≥ 18 years) with first-ever or recurrent stroke, community dwelling, with modified Rankin Scale < 5. The study included 380 persons recruited 10 to 16 weeks post-stroke, randomly assigned to individualized coaching for 18 months (n = 186) or standard care (n = 194). Individual need was measured by the Motor assessment scale (MAS), Barthel Index, Hospital Anxiety and Depression Scale (HADS), modified Rankin Scale (mRS) and Gait speed. HRQoL was measured by EQ-5D-5 L. Health care costs were estimated for each person based on individual information of health care use. Multivariate regression analysis was used to analyse cost differences between the groups and the relationship between individual costs and determinants of health care utilisation. RESULTS:There were higher total costs in the intervention group. MAS, Gait speed, HADS and mRS were significant identifiers of costs post-stroke, as was EQ-5D-5 L. CONCLUSION:Long term, regular individualized coaching did not reduce health care costs compared to standard care. We found that MAS, Gait speed, HADS and mRS were significant predictors for future health care use. The generic EQ-5D-5 L performed equally well as the more detailed battery of outcome measures, suggesting that HRQoL measures may be a simple and efficient way of identifying patients in need of health care after stroke and targeting groups for interventions. TRIAL REGISTRATION:https://www.clinicaltrials.govNCT01467206. The trial was retrospectively registered after the first 6 participants were included.