Syndrome In Sweden Research Articles

Health-related quality of life in adults with Marfan syndrome.

Marfan syndrome is a rare genetic connective tissue disorder. Research on health-related quality of life in Swedish patients is lacking. We aimed to examine health-related quality of life in patients with Marfan syndrome with respect to reference values, sex, and age. Using the registry for adult CHD, Sahlgrenska University Hospital/Östra Hospital, between 1 April 2009 and 31 January 2023, we identified 1916 patients. Of these, we included 33 patients aged ≥18 years who were diagnosed with Marfan syndrome and had completed the 36-item Short-Form Health Survey. The median age was 32 years (interquartile range 25.5-47.0) and 22 (66.7%) were men. Patients with Marfan syndrome had significantly lower values than reference values for all scales in the Short-Form Health Survey except bodily pain, role-emotional, and the physical component summary score. For both men and women with Marfan syndrome, vitality was the subscale with the greatest percentage difference in comparison with healthy reference values (82% in women and 73% in men). Furthermore, men reported significantly higher vitality levels than women (62.5 points, interquartile range 43.8-75.0 vs. 35 points, interquartile range 10.0-65.0, p = 0.026). Adults with Marfan syndrome in Sweden showed lower health-related quality of life levels in comparison with reference values for most Short-Form Health Survey scales, and there were differences between patients with Marfan syndrome in terms of sex and age.

Cost Effectiveness of Adding Fenfluramine to Standard of Care for Patients with Dravet Syndrome in Sweden.

This study evaluated, in a Swedish setting, the cost effectiveness of fenfluramine (FFA) as an add-on to standard of care (SoC) for reducing seizure frequency in Dravet syndrome, a severe developmental epileptic encephalopathy. Cost effectiveness of FFA+SoC compared with SoC only was evaluated using a patient-level simulation model with a lifetime horizon. Patient characteristics and treatment effects, including convulsive seizures, seizure-free days and mortality, were derived from FFA clinical trials. Resource use and costs included cost of drug acquisition, routine care and monitoring, as well as ongoing and emergency resources. Quality of life (QoL) estimates for patients and their caregivers were derived from clinical trial data. Robustness was evaluated by one-way sensitivity analysis, probabilistic sensitivity analysis and scenario analyses. Lifetime cost of FFA+SoC was ~3 million SEK per patient compared with ~1.5 million SEK for SoC only. FFA+SoC generated 15% more QALYs than SoC only (21.2 vs 18.5 over a lifetime), resulting in an incremental cost-effectiveness ratio (ICER) of ~540,000SEK. Moreover, FFA+SoC had a higher probability of being cost effective than SoC only from a willingness-to-pay threshold of 710,000SEK. Results remained generally consistent across scenario analyses, with only few exceptions (exclusions of carer utility or FFA effect on sudden unexpected death in epilepsy). Due to better seizure control, FFA is a clinically meaningful add-on therapy and was estimated to be a cost-effective addition to current SoC for patients with this rare disease in Sweden at a willingness-to-pay threshold of 1,000,000 SEK.

Treatments related to temporomandibular disorders among patients with prevalent types of Ehlers-Danlos syndrome in Sweden

ABSTRACT The aim of this study was to assess the received TMD treatment modalities and the perceived outcome among the frequent types of EDS. A digital questionnaire was sent to the member of the National Swedish EDS Association during January-March 2022. The subsamples of hypermobile and classical EDS were constructed. Almost 90% reported TMD symptoms. Bite splint therapy, counselling, jaw training and occlusal adjustment were reported as the most common treatments with no statistically significant difference in terms of good effect between the two subsamples. Hypermobile and classical EDS might consider as an entity with regards to TMD.

Autoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years' Controlled Follow-up Study.

Turner syndrome (TS) is the most common chromosomal aberration in women; it is the result of structural or numeric abnormalities in the X chromosome. Autoimmune hypothyroidism has been recognized as one of the more prominent disorders associated with TS. This work aimed to study the prevalence of autoimmune diseases in TS. A cross-sectional, longitudinal, 25-year follow-up study was conducted of patients from adult Turner centers at the University Hospitals, Sweden. During 1994 to 2020, a total of 503 women aged 16 to 71 years with TS were evaluated consecutively every fifth year according to national guidelines. A random population sample of women, n = 401, aged 25 to 44 years, from the World Health Organization Monitoring of Trends and Determinants for Cardiovascular Disease (MONICA) project served as controls. Serum thyrotropin, free thyroxine, vitamin B12, antithyroid peroxidase (anti-TPO), and antitransglutaminase antibodies were measured. Mean follow-up time (years) was 16 ± 7 for patients and 13 ± 1 for controls. From study start, the prevalence increased in TS for hypothyroidism 40% to 58%, vitamin B12 deficiency 5% to 12%, celiac disease 4% to 7%, positive anti-TPO 26% to 41%, and antitransglutaminase antibodies 6% to 8% (P < .0001 vs controls). Type 1 diabetes and Addison disease were rare. The only interrelationship was between hypothyroidism and vitamin B12 deficiency, both in TS and controls. No association between autoimmune disease and karyotype, antecedent growth hormone treatment, or ongoing estrogen hormone replacement, was seen in TS. In women with TS up to older than 80 years, more than half developed hypothyroidism, mainly autoimmune, during follow-up. Awareness of vitamin B12 deficiency and celiac disease throughout life is also recommended in women with TS.

Causes of nephrotic syndrome in Sweden: The relevance of clinical presentation and demographics.

Many pathological processes can disrupt the integrity of the glomerular capillary wall and cause a massive leakage of protein, resulting in nephrotic syndrome (NS). Clinical parameters such as age, sex, renal function, presence of diabetes, and how NS is defined influence the spectrum of underlying diseases. In this study, we examine how these parameters interact. Age, sex, hematuria, proteinuria, plasma creatinine plasma albumin levels, and final diagnosis were retrieved for all adult patients with NS as an indication for biopsy and/or massive albuminuria in conjunction with low plasma albumin from the biopsy module of the Swedish Renal Registry (SRR) between 2014 and 2019.A basic calculator was developed to demonstrate the importance of clinical presentation in relation to the likelihood of having a specific diagnosis. A total of 913 unique patients were included in the study. Diabetic nephropathy (DN) and membranous nephropathy (MN) (both found in 17% of patients) were the most common diagnoses. With a stringent definition of NS, MN and minimal change nephropathy (MCN) increased in proportion. Among the cohort as a whole, MCN was the most frequent diagnosis in women and those <50 years of age (found in 21% and 17%, respectively). In the case of patients aged between 50 and 70 years, those with chronic kidney disease stage 4, and those with negative dipstick tests for hematuria, the most common underlying disease was DN (in 23%, 30%, and 21% of cases, respectively). Among those with high-grade hematuria (dipstick grade 3 or 4), membranoproliferative glomerulonephritis was the most common diagnosis (14%), closely followed by IgA nephropathy (13%). Focal segmental glomerulosclerosis (9.7%) was less common than in many comparable studies. Clinical parameters have a profound impact on the likelihood of different diagnoses in adult patients with NS. Differences in clinical practice and study inclusion criteria may be more important than genetic background and environmental factors when explaining differences between studies in different parts of the world.

Further support for rituximab in relapsing multiple sclerosis

B cells have long been implicated in multiple sclerosis and, in the past few years, ocrelizumab and ofatumumab, drugs that target anti-CD20-expressing B cells, have been approved for use. The original anti-CD20 therapy, rituximab, is used off-label in some countries, and results from a clinical trial (RIFUND-MS) by Anders Svenningsson and colleagues 1 Svenningsson A Frisell T Burman J et al. Safety and efficacy of rituximab versus dimethyl fumarate in patients with relapsing-remitting multiple sclerosis or clinically isolated syndrome in Sweden: a rater-blinded, phase 3, randomised controlled trial. Lancet Neurol. 2022; 21: 693-703 Summary Full Text Full Text PDF PubMed Scopus (1) Google Scholar published in The Lancet Neurology help to fill a gap in our knowledge about how useful this monoclonal antibody might be for patients with relapsing-remitting multiple sclerosis. Safety and efficacy of rituximab versus dimethyl fumarate in patients with relapsing-remitting multiple sclerosis or clinically isolated syndrome in Sweden: a rater-blinded, phase 3, randomised controlled trialRIFUND-MS provides evidence that rituximab given as 1000 mg followed by 500 mg every 6 months is superior to dimethyl fumarate in preventing relapses over 24 months in patients with early relapsing-remitting multiple sclerosis. Health economic and long-term safety studies of rituximab in patients with multiple sclerosis are needed. Full-Text PDF

Safety and efficacy of rituximab versus dimethyl fumarate in patients with relapsing-remitting multiple sclerosis or clinically isolated syndrome in Sweden: a rater-blinded, phase 3, randomised controlled trial

B-cell depleting therapies are highly efficacious in relapsing-remitting multiple sclerosis but one such therapy, rituximab, is not approved for multiple sclerosis and no phase 3 trial data are available. We therefore examined the safety and efficacy of rituximab compared with dimethyl fumarate in patients with relapsing-remitting multiple sclerosis to obtain data that might allow inclusion of rituximab in treatment guidelines. RIFUND-MS was a multicentre, rater-blinded, active-comparator, phase 3, randomised controlled trial done at 17 Swedish university and community hospitals. Key inclusion criteria for participants were: age 18-50 years; relapsing-remitting multiple sclerosis or clinically isolated syndrome according to prevailing McDonald criteria; 10 years or less since diagnosis; untreated or only exposed to interferons or glatiramer acetate; and with clinical or neuroradiological disease activity in the past year. Patients were automatically randomly assigned (1:1) by the treating physician using a randomisation module in the Swedish multiple sclerosis registry, without stratification, to oral dimethyl fumarate 240 mg twice daily or to intravenous rituximab 1000 mg followed by 500 mg every 6 months. Relapse evaluation, Expanded Disability Status Scale rating, and assessment of MRI scans were done by examining physicians and radiologists masked to treatment allocation. The primary outcome was the proportion of patients with at least one relapse (defined as subacute onset of new or worsening neurological symptoms compatible with multiple sclerosis with a duration of more than 24 h and preceded by at least 30 days of clinical stability), assessed in an intention-to-treat analysis using log-binomial regression with robust standard errors. This trial is registered at ClinicalTrials.gov, NCT02746744. Between July 1, 2016, and Dec 18, 2018, 322 patients were screened for eligibility, 200 of whom were randomly assigned to a treatment group (100 assigned to rituximab and 100 assigned to dimethyl fumarate). The last patient completed 24-month follow-up on April 21, 2021. 98 patients in the rituximab group and 97 patients in the dimethyl fumarate group were eligible for the primary outcome analysis. Three (3%) patients in the rituximab group and 16 (16%) patients in the dimethyl fumarate group had a protocol-defined relapse during the trial, corresponding to a risk ratio of 0·19 (95% CI 0·06-0·62; p=0·0060). Infusion reactions (105 events [40·9 per 100 patient-years]) in the rituximab group and gastrointestinal reactions (65 events [47·4 per 100 patient-years]) and flush (65 events [47·4 per 100 patient-years]) in the dimethyl fumarate group were the most prevalent adverse events. There were no safety concerns. RIFUND-MS provides evidence that rituximab given as 1000 mg followed by 500 mg every 6 months is superior to dimethyl fumarate in preventing relapses over 24 months in patients with early relapsing-remitting multiple sclerosis. Health economic and long-term safety studies of rituximab in patients with multiple sclerosis are needed. Swedish Research Council.

Self-scored impairments in functioning and disability in post-COVID syndrome following mild COVID-19 infection.

ObjectivesTo investigate functioning, activity and disability in people with post-COVID syndrome.DesignCross-sectional.Subjects/patientsParticipants were recruited online via Facebook and a stakeholders’ organization for post-COVID syndrome in Sweden.MethodsSociodemographic data and International Classification of Functioning, Disability and Health (ICF)-based questionnaire were collected via an online platform and analysed.ResultsA total of 100 participants were included (mean age 44.5 years, 82% women, 61% with higher education, and 56% working full- or part-time). For the ICF component Body Functions, the most impaired functions were: fatigability and energy drive (98–99%); higher cognitive functions (74–94%); sleep functions (98%); muscle functions (93%); respiratory functions (92%); heart functions (82%); emotional functions (80%); sexual functions (77%); pain problems (56–90%); and thermoregulatory functions (68%). For the component Activity, the most frequent limitations were: handling stressful situations (98%); remunerative employment (95%); recreation and leisure (94%); climbing the stairs (94%); doing housework (84%); and informal socializing (64%). The most frequent degrees of impairment/limitations were light and moderate, except for severe-complete for fatigue, higher cognitive functions, multitasking, handling stressful situations; and recreation and leisure activities.ConclusionPost-COVID syndrome following a mild COVID-19 infection can result in impaired body functions and activities. These results support the importance of a multidisciplinary rehabilitation approach for these patients.LAY ABSTRACTThe SARS-CoV-2 (COVID-19) pandemic has infected several hundred million people worldwide to date. A proportion of people with COVID-19 who develop a mild initial illness, mainly staying at home or requesting few days of hospitalization, do not subsequently recover fully. Some of them develop new persistent symptoms and an increased level of disability, affecting their functioning. This study describes functioning and disability in people with post-COVID syndrome after a mild initial infection, using a self-scored questionnaire based on the International Classification of Functioning and Disability. A total of 100 participants were included in the study. Participants were relatively young and healthy prior to the infection. The majority were female, with a high level of education, and mostly working full- or part-time. Many disabling symptoms were found to persist, indicating the need for further research into post-COVID syndrome, and supporting the use of a multidisciplinary rehabilitation approach for these patients.

Costs associated with transfusion therapy in patients with myelodysplastic syndromes in Sweden: a nationwide retrospective cohort study.

Background and objectivesBlood transfusion is a cornerstone therapy for many patients with myelodysplastic syndromes (MDS), but ranges from few to no transfusions to intensive transfusion therapy. To date, no large studies have described transfusion use or costs for patients with MDS, accounting for the range of disease severity.Materials and methodsA nationwide cohort study was conducted with all patients diagnosed with MDS in Sweden between 2008 and 2017, based on the Swedish MDS register and the Swedish part of the Scandinavian Donations and Transfusions Database 3 (SCANDAT3‐S). Patients were followed from diagnosis until death, emigration, allogeneic hematopoietic stem cell transplantation or end of follow‐up. Average cumulative transfusion count and costs over time were calculated, stratified by the revised international prognostic scoring system (IPSS‐R) and age at diagnosis. Costs calculations used data on incident transfusions and laboratory testing and were divided into: direct material costs, direct labour costs and laboratory costs.ResultsIn total, 2311 patients were included in the cohort. In the first four years after diagnosis, patients in the very low IPSS‐R category received on average 25 red cell (95% confidence interval, 20–32) and 4 (3–7) platelet transfusions. Conversely, patients in the very high‐risk category received on average 171 (135–200) red cell and 66 (51–78) platelet transfusions. Correspondingly, transfusion costs ranged from $8805 ($6482–$11 625) to $80 106 ($61 460–$95 792).ConclusionTransfusion count and costs for patients with MDS increased markedly with IPSS‐R risk category, but were similar across age groups. Transfusion costs were considerable for the highest IPSS‐R risk categories.

Parents’ perceptions of oral health, general health and dental health care for children with Down syndrome in Sweden

Aim To describe parental perceptions of general health, oral health and received dental health care in Swedish children with Down syndrome (DS). Methods Online questionnaire, quantitative data analysis (Chi-square test). Results Parents of 101 children with DS (52 boys, 49 girls, mean age: 9.6 years) participated. Seventy percent rated their child’s general health and 74% their child’s oral health as good or very good. Parents, who rated their child’s oral health as poor (8%), also reported that dental procedures were difficult. Children received dental care at general (55%) and specialist clinics (53%). Ninety-four percent of parents of children receiving specialist dental health care were satisfied compared to 70% of parents with children in general clinics. The parents most valued characteristics of dental professionals were patience (63%) and their ability to engage the child (68%). Parents wanted multidisciplinary collaboration. Conclusion Most parents rated their child’s general and oral health as good or very good. Children with poor oral health were also reported to have difficulties coping with dental procedures. Parents wanted dental care to be tailored to meet their child’s unique needs. They wanted dental professionals to have knowledge about children with a need for special care. Lastly, they requested multidisciplinary collaboration.

Incidence of osmotic demyelination syndrome in Sweden: A nationwide study.

To report the incidence rate of osmotic demyelination syndrome (ODS), associated risk factors, treatment, and long-term outcomes in a nationwide cohort. We conducted a retrospective study of individuals diagnosed with central pontine myelinolysis (ICD-10 code G37.2) in the Swedish National Patient Register during 1997-2011. During the study period, we identified 83 individuals with ODS, 47 women and 36 men. Median age at diagnosis was 55years. The incidence rate of ODS for the entire study period was 0.611 (95% CI: 0.490-0.754) per million person-years and increased during the study period from 0.271 (95% CI: 0.147-0.460) in 1997-2001 to 0.945 (95% CI: 0.677-1.234) individuals per million person-years in 2007-2011. Most cases (86.7%) were hyponatremic with a median sodium level at admission of 104mmol/L. All hyponatremic cases were chronic. The cause of hyponatremia was multifactorial, including drugs (56.9%), polydipsia (31.9%), and vomiting or diarrhea (41.7%). A majority of patients (69.9%) were alcoholics. Hyponatremic patients were predominantly treated with isotonic saline (93.1%) and only 4.2% with hypotonic fluids. The median correction rate was 0.72mmol/L/h. Only six patients were corrected in accordance with national guidelines (≤8mmol/L/24/h). At three months, 7.2% had died and 60.2% were functionally independent (modified Rankin Scale 0-2). We found an increasing incidence during the study period, which could partly be explained by increased access to magnetic resonance imaging. ODS occurs predominantly in patients with extreme chronic hyponatremia which is corrected too fast with isotonic saline. Most patients survived and became functionally independent.

Concomitant Ro/SSA and La/SSB antibodies are biomarkers for the risk of venous thromboembolism and cerebral infarction in primary Sjögren's syndrome.

BackgroundTo assess the risk of incident cardiovascular disease in patients with primary Sjögren's syndrome, overall and stratified by Ro/SSA and La/SSB autoantibody status.MethodsA cohort of patients with primary Sjögren's syndrome in Sweden (n = 960) and matched controls from the general population (n = 9035) were included, and data extracted from the National Patient Register to identify events of myocardial infarction, cerebral infarction and venous thromboembolism. Hazard ratios were estimated using cox proportional hazard regressions.ResultsDuring a median follow‐up of 9.5 years, the overall hazard ratio (HR) was 1.6 (95% CI 1.2–2.1) for myocardial infarction, 1.2 (95% CI 0.9–1.7) for cerebral infarction and 2.1 (95% CI 1.6–2.9) for venous thromboembolism. Patients positive for both Ro/SSA and La/SSB autoantibodies had a substantially higher risk of cerebral infarction (HR 1.7, 95% CI 1.0–2.9) and venous thromboembolism (HR 3.1, 95% CI 1.9–4.8) than the general population. These risks were not significantly increased in Ro/SSA‐ and La/SSB‐negative patients. Among autoantibody‐positive patients, the highest HR of cerebral infarction was seen after ≥10 years disease duration (HR 2.8, 95% CI 1.4–5.4), while the HR for venous thromboembolism was highest 0–5 years after disease diagnosis (HR 4.7, 95% CI 2.3–9.3) and remained high throughout disease duration.ConclusionsPrimary Sjögren's syndrome is associated with a markedly increased risk of cardiovascular disease and the presence of Ro/SSA and La/SSB autoantibodies identify the subgroup of patients carrying the highest risk. These findings suggest that monitoring and prevention of cardiovascular disease in this patient group should be considered.

Locked-in syndrome in Sweden, an explorative study of persons who underwent rehabilitation: a cohort study

ObjectiveLocked-in syndrome (LiS) is a rare condition, characterised by a complete paresis except for vertical eye movements and blinking with cognitive functions intact, commonly caused by ischaemia in the ventral...

Cohort study of healthcare use, costs and diagnoses from onset to 6 months after discharge for takotsubo syndrome in Sweden.

ObjectiveLittle is known about the economic impact of takotsubo syndrome (TS) for patients and the health system after initial discharge from hospital. Therefore, the aim of this study was to describe the healthcare resource use and calculate direct healthcare costs for TS, from hospitalisation to 6 months after discharge, and explore the distribution of costs between TS and other diagnoses among patients with TS.Method, participants and settingCohort study investigating direct healthcare costs from hospitalisation, open specialised outpatient and primary care. Healthcare resource use during 6 months after diagnosis with TS was collected for 58 consecutive patients from the Regional Patient Register. Incidence-based direct healthcare costs, in 2015 values, were calculated using diagnosis-related group weights and unit costs from national statistics on healthcare costs.ResultsThe mean length of hospital stay was 10.2 days, index 6.4 and re-admissions 3.8 days. The mean number of follow-up encounters per patient was 15.6, of which two-thirds was specialised outpatient and one-third was primary care. This resulted in an average cost of €10 360. Of this, costs of €8026 (77.5%) occurred during encounters for which at least one of the registered conditions was cardiovascular. Costs differed little according to background characteristics.ConclusionThis study shows that patients utilise hospital, specialised outpatient and primary care after discharge for TS. Most direct healthcare costs relate to cardiac diagnoses. Patients with TS would probably benefit from a supportive follow-up programme after discharge from hospital.

Clinical practice of BOTOX® treatment for overactive bladder syndrome in Sweden: an assessment of resource use and external validity

Objective: The objective of this study was to assess the resource use of treating overactive bladder (OAB) patients in real-world clinical practice and to evaluate whether there is external validity in the treatment of OAB in clinical practice.Materials and methods: The study included 55 patients suffering from OAB and treated with BOTOX® at two Swedish clinics. The study was conducted as an anonymized retrospective chart review study.Results: The estimated yearly direct cost of BOTOX treatment was €902. The mean age of patients in the study was 60 years, and 85% were women. The severity of OAB before BOTOX treatment, given by the mean number of daily leakages, equalled 4.8. The median interval between treatments was 210 days.Conclusions: Patient characteristics in the real world were similar to those in the clinical trials, showing a high degree of external validity. Treatment intervals were longer in the real world than in clinical trials, indicating that treatment cost could be lower when patients are treated as observed in real-world clinical practice.

Societal costs of fetal alcohol syndrome in Sweden

ObjectiveTo estimate the annual societal cost of fetal alcohol syndrome (FAS) in Sweden, focusing on the secondary disabilities thought feasible to limit via early interventions.MethodsPrevalence-based cost-of-illness analysis of FAS in Sweden for 2014. Direct costs (societal support, special education, psychiatric disorders and alcohol/drug abuse) and indirect costs (reduced working capacity and informal caring), were included. The calculations were based on published Swedish studies, including a register-based follow-up study of adults with FAS, reports and databases, and experts.ResultsThe annual total societal cost of FAS was estimated at €76,000 per child (0–17 years) and €110,000 per adult (18–74 years), corresponding to €1.6 billion per year in the Swedish population using a prevalence of FAS of 0.2 %. The annual additional cost of FAS (difference between the FAS group and a comparison group) was estimated at €1.4 billion using a prevalence of 0.2 %. The major cost driver was the cost of societal support.ConclusionsThe cost burden of FAS on the society is extensive, but likely to be underestimated. A reduction in the societal costs of FAS, both preventive and targeted interventions to children with FAS, should be prioritized. That is, the cost of early interventions such as placement in family homes or other forms of housing, and special education, represent unavoidable costs. However, these types of interventions are highly relevant to improve the individual’s quality of life and future prospects, and also, within a long-term perspective, to limit the societal costs and personal suffering.

The red meat allergy syndrome in Sweden

The red meat allergy syndrome in Sweden

The gynecological surveillance of women with Lynch syndrome in Sweden

ObjectiveWomen with Lynch syndrome (LS) have up to a 60% lifetime risk of endometrial cancer (EC) and up to a 24% risk of ovarian cancer (OC). Gynecological surveillance is recommended, but the benefit and how it should be performed remain unclear. The purpose of this study was to assess diagnostic modalities for gynecological screening of LS patients in Sweden and clinical outcome. MethodsA retrospective nationwide study of 170 women with molecularly confirmed LS. Data including gynecological LS screening history, biopsy results (if any), genetic records, number of screening visits, results from screening including transvaginal ultrasound (TVUS), endometrial biopsy (EB), blood test for tumor marker cancer antigen (CA) 125, prophylactic surgery including age at procedure, and setting from which screening data were obtained from medical records. ResultsA total of 117 women were eligible for gynecological screening and of these, 86 patients attended screening visits. Of these, 41 underwent prophylactic hysterectomy and/or bilateral salpingo-oophorectomy. Two patients (4.9%) were diagnosed with EC and two (4.9%) with precancerous lesions in conjunction with prophylactic surgery. Total incidence of gynecological cancer in the surveillance group (45 women) was 20% EC, 4% OC. Five patients had endometrial cancer or complex hyperplasia with atypia (n=2) detected by endometrial biopsy. Four additional cases were detected due to interval bleeding. Both cases of ovarian cancer were detected by transvaginal ultrasound in patients with ovarian cysts under surveillance. The youngest woman with endometrial cancer was diagnosed at 35years of age, before she was aware of her diagnosis of Lynch syndrome. ConclusionsGynecological surveillance of women with Lynch syndrome may lead to earlier detection of precancerous lesions, which might have some impact on the morbidity from endometrial cancer although further studies are needed to prove this. Prophylactic hysterectomy with or without bilateral salpingo-oophorectomy reduces the cancer incidence. A practical approach to surveillance in Lynch syndrome women would be to offer annual surveillance beginning at age 30years including probably both TVUS and EB in order to increase diagnostic yield with prospective data registry for follow-up studies. Prophylactic surgery could be performed at a suitable age after childbearing to obtain a balance between reducing the risk of cancer and minimizing long-term complications from premature menopause.

Cost-effectiveness Analysis of Rivaroxaban in the Secondary Prevention of Acute Coronary Syndromes in Sweden.

BackgroundWorldwide, coronary heart disease accounts for 7 million deaths each year. In Sweden, acute coronary syndrome (ACS) is a leading cause of hospitalization and is responsible for 1 in 4 deaths.ObjectiveThe aim of this analysis was to assess the cost-effectiveness of rivaroxaban 2.5 mg twice daily (BID) in combination with standard antiplatelet therapy (ST-APT) versus ST-APT alone, for the secondary prevention of ACS in adult patients with elevated cardiac biomarkers without a prior history of stroke/transient ischemic attack (TIA), from a Swedish societal perspective, based on clinical data from the global ATLAS ACS 2-TIMI 51 trial, literature-based quality of life data and costs sourced from Swedish national databases.MethodsA Markov model was developed to capture rates of single and multiple myocardial infarction (MI), ischemic and hemorrhagic stroke, thrombolysis in myocardial infarction (TIMI) major, minor, and “requiring medical attention” bleeds, revascularization events, and associated costs and utilities in patients who were stabilized after an initial ACS event. Efficacy and safety data for the first 2 years came from the ATLAS ACS 2-TIMI 51 trial. Long-term probabilities were extrapolated using safety and effectiveness of acetylsalicylic acid data, which was estimated from published literature, assuming constant rates in time. Future cost and effects were discounted at 3.0%. Univariate and probabilistic sensitivity analyses were conducted.ResultsIn the base case, the use of rivaroxaban 2.5 mg BID was associated with improvements in survival and quality-adjusted life years (QALYs), yielding an incremental cost per QALY of 71,246 Swedish Krona (SEK) (€8045). The outcomes were robust to changes in inputs. The probabilistic sensitivity analysis demonstrated rivaroxaban 2.5 mg BID to be cost-effective in >99.9% of cases, assuming a willingness-to-pay threshold of SEK 500,000 (€56,458).ConclusionCompared with ST-APT alone, the use of rivaroxaban 2.5 mg BID in combination with ST-APT can be considered a cost-effective treatment option for ACS patients with elevated cardiac biomarkers without a prior history of stroke/TIA in Sweden.FundingBayer Pharma AG.Electronic supplementary materialThe online version of this article (doi:10.1007/s40119-015-0041-3) contains supplementary material, which is available to authorized users.

Dravet syndrome in Sweden: a population-based study.

To assess the prevalence and incidence of Dravet syndrome in children diagnosed in Sweden between 2007 and 2011, and to describe neurological comorbidity, disease course, phenotypes, and treatment effects. All neuropaediatricians at university and county hospitals were asked to supply information for patients that matched the electro-clinical profile of Dravet syndrome. Genetic laboratories and referral clinicians were also contacted and requested to supply information. The estimated incidence was one in 33000 live births (95% CI 1:20400-1:56200) and prevalence on December 31, 2011 was one in 45700 children aged less than 18years of age (95% CI 1:33800-1:63400). The median age of the 42 children (18 males, 24 females) was 7years (range 1-17y), the median age at seizure onset was 6months (range 0-12mo), and the median age at diagnosis was 3years (range 1-14y). A mutation in the SCN1A gene was found in 37 patients (88%), four were familial. Intellectual disability was diagnosed in 28 (67%) children, and 18 out of 30 patients investigated had autism spectrum disorder. Thirty participants had neurological deficits. Stiripentol, as an add-on medication, was used in 18 patients. Among these patients, seven were seizure free, six had >50% seizure reduction, and five <50% seizure reduction. This is the first population-based study of Dravet syndrome in Sweden. Our data confirm international findings of incidence and highlights the severe and progressive course of this genetic epilepsy syndrome.