Context Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare genetic disorder. Incidence and prevalence are not well-studied. Epidemiological research is complicated by the rarity of FD... Show moreContext Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare genetic disorder. Incidence and prevalence are not well-studied. Epidemiological research is complicated by the rarity of FD/MAS, absence of registries, heterogeneous presentation, and possibly asymptomatic phenotype. FD/MAS may present with FGF23-mediated hypophosphatemia, of which the epidemiology is also unclear.Objective Evaluate incidence and prevalence of FD/MAS and FD/MAS-related hypophosphatemia.Methods This cohort study based on the nationwide Danish National Patient Registry from 1995-2018, included patients identified by ICD-10 codes M85.0 (monostotic FD [MFD]) and Q78.1 (polyostotic FD [PFD]/MAS). Incidence rates and prevalence were calculated and stratified by sex, age, calendar period, and diagnosis code. Cases were screened for FD-associated hypophosphatemia by diagnosis code E.83 (disorder of mineral metabolism) and dispatched vitamin D analogues.Results A total of 408 patients were identified, 269 with MFD (66%), 139 with PFD/MAS (34%), comparable between sexes. Incidence of FD/MAS demonstrated increasing secular trend with a rate of 3.6 per 1 000 000 person-years (95% CI: 2.9, 4.5) in 2015-2018. Incidence peaked between age 11 and 20. Prevalence of FD/MAS increased over time to 61.0 (95% CI: 54.6, 67.4) per 1 000 000 persons in 2018. The incidence rate of MFD was 1.5-fold that of PFD/MAS in the first decade, rising to 2.5-fold in the last decade. No FD/MAS cases were registered with diagnosis code or treatment for hypophosphatemia.Conclusion FD/MAS is rare, diagnosis peaks during adolescence without sex predominance, and MFD is most prevalent. Hypophosphatemia may be underdiagnosed and undertreated, or it may be underregistered, comparing this study to literature. Show less
ObjectivesVisuospatial neglect (VSN) is a common cognitive deficit of lateralized attention after stroke and can have a negative influence on patients’ daily activities, community participation, and .Show moreObjectivesVisuospatial neglect (VSN) is a common cognitive deficit of lateralized attention after stroke and can have a negative influence on patients’ daily activities, community participation, and caregiver burden. VSN prevalence has been investigated in several mixed-age populations, but rarely in only an older population. As the population in geriatric rehabilitation (GR) is understudied and VSN may influence rehabilitation goals in GR (return home), we examined the prevalence of VSN as well as associations between VSN (severity) and population characteristics and the impact of VSN on functioning, length of stay, and discharge destination after GR.DesignMulticenter cross-sectional study.Setting and ParticipantsStroke patients admitted to GR.MethodsThree VSN tests (Star cancelation task, Line bisection task, and Catherine Bergego Scale) were administered in the first 2 weeks of GR admission. To examine VSN severity, a composite score was calculated based on scores of the 3 tests.ResultsA total of 114 stroke patients were included [55.3% female; mean age 80.2 (SD 8.0) years]. VSN prevalence was 47.4%, in which allocentric and egocentric neglect were more prevalent than VSN during activities of daily living. Participants with VSN spent more days in GR compared to participants without VSN (median 68.5 vs 35.5 days) and had fewer home returns. In addition, VSN participants showed less mobility, lower cognitive functioning, and less independence during self-care compared to participants without VSN. Mobility, self-care, cognition, duration of rehabilitation, and home return were negatively associated with VSN severity.Conclusions and ImplicationsVSN is very prevalent in the GR stroke population. VSN severely hampers older people during daily activities and their rehabilitation process and, therefore, has a major personal and societal impact. Accordingly, systematic assessment of VSN in the early phase of geriatric rehabilitation with multiple VSN screening tests is recommended. Show less
The purpose of this study was to provide an estimate of the number of current and future patients with polypoidal choroidal vasculopathy (PCV) in Europe. We systematically searched 11 literature... Show moreThe purpose of this study was to provide an estimate of the number of current and future patients with polypoidal choroidal vasculopathy (PCV) in Europe. We systematically searched 11 literature databases on 18 May 2022 for studies on the prevalence of PCV among a consecutive and representative group of patients with suspected neovascular age-related macular degeneration (AMD). Prevalence of PCV in patients with suspected neovascular AMD was summarized and included in a prevalence meta-analysis. We then used current population data and population forecasts by Eurostat and the Office for National Statistics to determine current and future number of patients with neovascular AMD in Europe. Then, we calculated the number of patients with PCV with our calculated estimate of the prevalence of PCV among Europeans suspected with neovascular AMD. A total of five eligible studies were identified which included a total of 1359 patients. All these studies used the gold standard of indocyanine green angiography as a routine part of their diagnostic approach. Among patients undergoing detailed retinal examination for suspected neovascular AMD, our meta-analysis calculated the prevalence of PCV to be 8.3% (95% confidence interval: 6.8-9.8%). Our population estimates find that a total of 217,404 patients with PCV exist in Europe in the year 2022, which constitutes 0.04% of the entire population of Europe. This number is estimated to increase to 287,517 patients in the year 2040. Our estimates are important for different healthcare stakeholders, especially when planning and allocating expensive resources. Show less
Background and Purpose: In previous studies, women had a higher risk of rupture of intracranial aneurysms than men, but female sex was not an independent risk factor. This may be explained by a... Show moreBackground and Purpose: In previous studies, women had a higher risk of rupture of intracranial aneurysms than men, but female sex was not an independent risk factor. This may be explained by a higher prevalence of patient- or aneurysm-related risk factors for rupture in women than in men or by insufficient power of previous studies. We assessed sex differences in rupture rate taking into account other patient- and aneurysm-related risk factors for aneurysmal rupture. Methods: We searched Embase and Pubmed for articles published until December 1, 2020. Cohorts with available individual patient data were included in our meta-analysis. We compared rupture rates of women versus men using a Cox proportional hazard regression model adjusted for the PHASES score (Population, Hypertension, Age, Size of Aneurysm, Earlier Subarachnoid Hemorrhage From Another Aneurysm, Site of Aneurysm), smoking, and a positive family history of aneurysmal subarachnoid hemorrhage. Results: We pooled individual patient data from 9 cohorts totaling 9940 patients (6555 women, 66%) with 12 193 unruptured intracranial aneurysms, and 24 357 person-years follow-up. Rupture occurred in 163 women (rupture rate 1.04%/person-years [95% CI, 0.89-1.21]) and 63 men (rupture rate 0.74%/person-years [95% CI, 0.58-0.94]). Women were older (61.9 versus 59.5 years), were less often smokers (20% versus 44%), more often had internal carotid artery aneurysms (24% versus 17%), and larger sized aneurysms (>= 7 mm, 24% versus 23%) than men. The unadjusted women-to-men hazard ratio was 1.43 (95% CI, 1.07-1.93) and the adjusted women/men ratio was 1.39 (95% CI, 1.02-1.90). Conclusions: Women have a higher risk of aneurysmal rupture than men and this sex difference is not explained by differences in patient- and aneurysm-related risk factors for aneurysmal rupture. Future studies should focus on the factors explaining the higher risk of aneurysmal rupture in women. Show less
Runhart, E.H.; Dhooge, P.; Meester-Smoor, M.; Pas, J.; Pott, J.W.R.; Leeuwen, R. van; ... ; Hoyng, C.B. 2021
Purpose To assess the incidence of Stargardt disease (STGD1) and to evaluate demographics of incident cases. Methods For this retrospective cohort study, demographic, clinical and genetic data of... Show morePurpose To assess the incidence of Stargardt disease (STGD1) and to evaluate demographics of incident cases. Methods For this retrospective cohort study, demographic, clinical and genetic data of patients with a clinical diagnosis of STGD1 were registered between September 2010 and January 2020 in a nationwide disease registry. Annual incidence (2014-2018) and point prevalence (2018) were assessed on the basis of this registry. Results A total of 800 patients were registered, 56% were female and 83% were of European ancestry. The incidence was 1.67-1.95:1,000,000 per year and the point prevalence in 2018 was approximately 1:22,000-1:19,000 (with and without 10% of potentially unregistered cases). Age at onset was associated with sex (p = 0.027, Fisher's exact); 1.9x more women than men were observed (140 versus 74) amongst patients with an age at onset between 10 and 19 years, while the sex ratio in other age-at-onset categories approximated one. Late-onset STGD1 (>= 45 years) constituted 33% of the diagnoses in 2014-2018 compared to 19% in 2004-2008. Diagnostic delay (>= 2 years between the first documentation of macular abnormalities and diagnosis) was associated with older age of onset (p = 0.001, Mann-Whitney). Misdiagnosis for age-related macular degeneration (22%) and incidental STGD1 findings (14%) was common in patients with late-onset STGD1. Conclusion The observed prevalence of STGD1 in real-world data was lower than expected on the basis of population ABCA4 allele frequencies. Late-onset STGD1 was more frequently diagnosed in recent years, likely due to higher awareness of its phenotype. In this pretherapeutic era, mis- and underdiagnosis of especially late-onset STGD1 and the role of sex in STGD1 should receive special attention. Show less
Background and Purpose:Cortical calcifications have been reported in patients with cerebral amyloid angiopathy (CAA), although their prevalence and pathophysiology are unknown. We investigated the... Show moreBackground and Purpose:Cortical calcifications have been reported in patients with cerebral amyloid angiopathy (CAA), although their prevalence and pathophysiology are unknown. We investigated the frequency of calcifications on computed tomography, their association with intracerebral hemorrhage (ICH) and their coexistence with a striped pattern of the occipital cortex reflecting microcalcifications on ultra-high-field 7T-magnetic resonance imaging in Dutch-type hereditary CAA (D-CAA) and sporadic CAA.Methods:We included D-CAA mutation carriers with a proven APP (amyloid precursor protein) mutation or >= 1 lobar ICH and >= 1 first-degree relative with D-CAA and sporadic CAA patients with probable CAA according to the modified Boston criteria. D-CAA carriers were regarded symptomatic when they had a history of symptomatic ICH. We assessed the presence, location, and progression of calcifications and their association with ICH and the striped occipital cortex.Results:We found cortical calcifications in 15/81 (19% [95% CI, 11-29]) D-CAA mutation carriers (15/69 symptomatic and 0/12 presymptomatic) and in 1/59 (2% [95% CI, 0-9]) sporadic CAA patients. Calcifications were all bilateral located in the occipital lobes. In 3/15 (20%) of the symptomatic D-CAA patients the calcifications progressed over a period up to 10 years. There was evidence of an association between cortical calcifications and new ICH development (hazard ratio, 7.1 [95% CI, 0.9-54.9], log-rank P=0.03). In 7/25 D-CAA symptomatic carriers in whom a 7T-magnetic resonance imaging was performed, a striped pattern of the occipital cortex was present; in 3/3 (100%) of those with calcifications on computed tomography and 4/22 (18%) of those without calcifications.Conclusions:Occipital cortical calcifications are frequent in D-CAA but seem to be rare in sporadic CAA. Their absence in presymptomatic carriers and their association with ICH might suggest that they are a marker for advanced CAA. Cortical calcifications on computed tomography seem to be associated with the striped occipital cortex on 7T-magnetic resonance imaging which may possibly represent an early stage of calcification. Show less
Witlox, M.; Garnefski, N.; Kraaij, V.; Simou, M.; Dusseldorp, E.; Bohlmeijer, E.; Spinhoven, P. 2021
This systematic review and meta-analysis compared prevalence rates for subthreshold anxiety and anxiety disorders in adults aged 55 degrees and examined if these rates were associated with age. A... Show moreThis systematic review and meta-analysis compared prevalence rates for subthreshold anxiety and anxiety disorders in adults aged 55 degrees and examined if these rates were associated with age. A systematic search and screening procedure resulted in 46 included articles. First, prevalence rates for subthreshold anxiety and anxiety disorders were statistically compared. Subthreshold panic, generalized anxiety and specific phobia were significantly more prevalent than the corresponding clinical disorders. In general, subthreshold anxiety appeared to be at least similarly prevalent to anxiety disorders, although firm conclusions are precluded due to the small number of samples that could be included in the analyses and the large heterogeneity between the reported prevalence rates. Second, using subgroup analyses, pooled prevalence rates for four age groups of older adults (55-64, 65-74, 75-84, 85 degrees) were compared. For specific phobia, the 75-84 and 85 degrees groups had significantly lower prevalence rates than the 55-64 and 65-74 groups. Posttraumatic stress disorder was significantly more prevalent in the 55-64 group than in the other age groups, and lowest in the 85 degrees group. No other significant differences between age groups were found. The association between later life subthreshold anxiety and age could not be examined due to a lack of reported information. The main limitation of this study is the small number of samples in the analyses, which limits their power and generalizability. Show less
Isolated systolic hypertension (ISH) is the most common form of hypertension and is highly prevalent in older people. We recently showed differences between upper-arm cuff and invasive blood... Show moreIsolated systolic hypertension (ISH) is the most common form of hypertension and is highly prevalent in older people. We recently showed differences between upper-arm cuff and invasive blood pressure (BP) become greater with increasing age, which could influence correct identification of ISH. This study sought to determine the difference between identification of ISH by cuff BP compared with invasive BP. Cuff BP and invasive aortic BP were measured in 1695 subjects (median 64 years, interquartile range [55-72], 68% male) from the INSPECT (Invasive Blood Pressure Consortium) database. Data were recorded during coronary angiography among 29 studies, using 21 different cuff BP devices. ISH was defined as >= 130/<80 mm Hg using cuff BP compared with invasive aortic BP as the reference. The prevalence of ISH was 24% (n=407) according to cuff BP but 38% (n=642) according to invasive aortic BP. There was fair agreement (Cohen kappa, 0.36) and 72% concordance between cuff and invasive aortic BP for identifying ISH. Among the 28% of subjects (n=471) with misclassification of ISH status by cuff BP, 20% (n=96) of the difference was due to lower cuff systolic BP compared with invasive aortic systolic BP (mean, -16.4 mm Hg [95% CI, -18.7 to -14.1]), whereas 49% (n=231) was from higher cuff diastolic BP compared with invasive aortic diastolic BP (+14.2 mm Hg [95% CI, 11.5-16.9]). In conclusion, compared with invasive BP, cuff BP fails to identify ISH in a sizeable portion of older people and demonstrates the need to improve cuff BP measurements. Show less
Tabyshova, A.; Emilov, B.; Postma, M.J.; Chavannes, N.H.; Sooronbaev, T.; J.F.M. van boven 2020
Prevalence data of respiratory diseases (RDs) in Central Asia (CA) and Russia are contrasting. To inform future research needs and assist government and clinical policy on RDs, an up-to-date... Show morePrevalence data of respiratory diseases (RDs) in Central Asia (CA) and Russia are contrasting. To inform future research needs and assist government and clinical policy on RDs, an up-to-date overview is required. We aimed to review the prevalence and economic burden of RDs in CA and Russia. PubMed and EMBASE databases were searched for studies that reported prevalence and/or economic burden of RDs (asthma, chronic obstructive pulmonary disease (COPD), cystic fibrosis, interstitial lung diseases (ILD), lung cancer, pulmonary hypertension, and tuberculosis (TB)) in CA (Kyrgyzstan, Uzbekistan, Tajikistan, Kazakhstan, and Turkmenistan) and Russia. A total of 25 articles (RD prevalence: 18; economics: 7) were included. The majority (n = 12), mostly from Russia, reported on TB. TB prevalence declined over the last 20 years, to less than 100 per 100,000 across Russia and CA, yet in those, multidrug-resistant tuberculosis (MDR-TB) was alarming high (newly treated: 19-26%, previously treated: 60-70%). COPD, asthma (2-15%) and ILD (0.006%) prevalence was only reported for Russia and Kazakhstan. No studies on cystic fibrosis, lung cancer and pulmonary hypertension were found. TB costs varied between US$400 (Tajikistan) and US$900 (Russia) for drug-susceptible TB to >= US$10,000 for MDR-TB (Russia). Non-TB data were scarce and inconsistent. Especially in CA, more research into the prevalence and burden of RDs is needed. Show less
Dorp, M. van; Boon, A.; Spijkerman, R.; L. los 2020
Issues Migrant adolescents show specific risk and protective factors associated with substance use, but the extent to which prevalence rates differ between migrant and native-born youth in Europe... Show moreIssues Migrant adolescents show specific risk and protective factors associated with substance use, but the extent to which prevalence rates differ between migrant and native-born youth in Europe remains unclear. The present study aims to provide a comprehensive review of all available substance use prevalence studies on differences in substance use between migrant and native-born adolescents in Europe. Approach In this systematic review, PubMed, Medline and Pre-Medline, EMBASE and PsycINFO were searched for articles comparing substance use prevalence rates (tobacco, alcohol, illicit drugs) between migrant and native-born adolescents or young adults aged 11 to 29 years in European countries. The Joanna Briggs Institute prevalence critical appraisal tool was used for quality assessment. Key Findings Fifteen studies met the inclusion criteria. The findings unanimously showed lower alcohol use in migrant compared to native-born adolescents, in particular among migrant adolescents from non-European countries and/or with a Muslim background. For tobacco and illicit drug use, findings were mixed. Implications The results suggest a healthier behaviour profile among migrants than among native-born adolescents regarding alcohol use. Therefore, it would be beneficial to develop interventions to support migrant communities in maintaining their healthier alcohol use practices upon arrival in the host country. Conclusion Compared to native-born adolescents, migrant adolescents are less likely to use alcohol. The findings on tobacco and illicit drug use were mixed. A European standard for surveys regarding substance use among adolescents is needed to investigate fluctuations, causes, and consequences of substance use differences between migrants and natives at the European level. Show less
Background and Purpose-Our study aim was to assess whether high-sensitivity cardiac troponin T (hs-cTnT), a specific biomarker for myocardial injury, is associated with cognitive function in... Show moreBackground and Purpose-Our study aim was to assess whether high-sensitivity cardiac troponin T (hs-cTnT), a specific biomarker for myocardial injury, is associated with cognitive function in patients after mild-to-moderate first-ever ischemic stroke.Methods-We used data from PROSCIS-B (Prospective Cohort With Incident Stroke Berlin). Cognitive function was assessed by Mini-Mental-State-Examination at baseline, and Telephone Interview for Cognitive Status-modified after 1 to 3 years of follow-up. Patients were categorized according to hs-cTnT quartiles. We performed generalized linear regression to calculate risk ratios of cognitive impairment (Mini-Mental-State-Examination <27; Telephone Interview for Cognitive Status-modified <32). Association of hs-cTnT with cognitive function over time was estimated using a linear mixed model.Results-We included 555 patients (mean age, 67 years, 62% male, median National Institutes of Health Stroke Scale 2 [interquartile range, 1-5], hs-cTnT above upper reference limit 40%, baseline cognitive impairment 28%). Baseline Mini-Mental-State-Examination score and rate of cognitive impairment were lower in patients in the highest versus lowest hs-cTnT quartile (median Mini-Mental-State-Examination 27 versus 29, and 15.3% versus 43.0%, adjusted risk ratio, 1.76 [95% CI, 1.07-2.90], respectively). If anything, cognition seemed to improve in all groups, yet Telephone Interview for Cognitive Status-modified scores were consistently lower in patients within the highest versus lowest hs-cTnT quartile (adjusted beta, -1.33 [95% CI, -2.65 to -0.02]), without difference in the rate of change over time.Conclusions-In patients with mild-to-moderate first-ever ischemic stroke without dementia, higher hs-cTnT was associated with higher prevalence of cognitive impairment at baseline and lower Telephone Interview for Cognitive Status-modified during 3-year follow-up.Registration-URL: ; Unique identifier: NCT01363856. Show less
Aims To provide a pooled estimation of contemporary pre-test probabilities (PTPs) of significant coronary artery disease (CAD) across clinical patient categories, re-evaluate the utility of the... Show moreAims To provide a pooled estimation of contemporary pre-test probabilities (PTPs) of significant coronary artery disease (CAD) across clinical patient categories, re-evaluate the utility of the application of diagnostic techniques according to such estimates, and propose a comprehensive diagnostic technique selection tool for suspected CAD.Methods and results Estimates of significant CAD prevalence across sex, age, and type of chest pain categories from three large-scale studies were pooled (n = 15 815). The updated PTPs and diagnostic performance profiles of exercise electrocardiogram, invasive coronary angiography, coronary computed tomography angiography (CCTA), positron emission tomography (PET), stress cardiac magnetic resonance (CMR), and SPECT were integrated to define the PTP ranges in which ruling-out CAD is possible with a post-test probability of <10% and <5%. These ranges were then integrated in a new colour-coded tabular diagnostic technique selection tool. The Bayesian relationship between PTP and the rate of diagnostic false positives was explored to complement the characterization of their utility. Pooled CAD prevalence was 14.9% (range = 1-52), clearly lower than that used in current clinical guidelines. Ruling-out capabilities of non-invasive imaging were good overall. The greatest ruling-out capacity (i.e. post-test probability <5%) was documented by CCTA, PET, and stress CMR. With decreasing PTP, the fraction of false positive findings rapidly increased, although a lower CAD prevalence partially cancels out such effect.Conclusion The contemporary PTP of significant CAD across symptomatic patient categories is substantially lower than currently assumed. With a low prevalence of the disease, non-invasive testing can rarely rule-in the disease and focus should shift to ruling-out obstructive CAD. The large proportion of false positive findings must be taken into account when patients with low PTP are investigated. Show less
Background. Population-specific consensus documents recommend that the diagnosis of hypertension in haemodialysis patients be based on 48-h ambulatory blood pressure ( ABP) monitoring. However,... Show moreBackground. Population-specific consensus documents recommend that the diagnosis of hypertension in haemodialysis patients be based on 48-h ambulatory blood pressure ( ABP) monitoring. However, until now there is just one study in the USA on the prevalence of hypertension in haemodialysis patients by 44-h recordings. Since there is a knowledge gap on the problem in European countries, we reassessed the problem in the European Cardiovascular and Renal Medicine working group Registry of the European Renal Association-European Dialysis and Transplant Association.Methods. A total of 396 haemodialysis patients underwent 48-h ABP monitoring during a regular haemodialysis session and the subsequent interdialytic interval. Hypertension was defined as (i) pre-haemodialysis blood pressure (BP) >= 140/90 mmHg or use of antihypertensive agents and (ii) ABP >= 130/80 mmHg or use of antihypertensive agents.Results. The prevalence of hypertension by 48-h ABP monitoring was very high (84.3%) and close to that by prehaemodialysis BP (89.4%) but the agreement of the two techniques was not of the same magnitude (j statistics = 0.648; P<0.001). In all, 290 participants were receiving antihypertensive treatment. In all, 9.1% of haemodialysis patients were categorized as normotensives, 12.6% had controlled hypertension confirmed by the two BP techniques, while 46.0% had uncontrolled hypertension with both techniques. The prevalence of white coat hypertension was 18.2% and that of masked hypertension 14.1%. Of note, hypertension was confined only to night-time in 22.2% of patients while just 1% of patients had only daytime hypertension. Predialysis BP >= 140/90 mmHg had 76% sensitivity and 54% specificity for the diagnosis of BP >= 130/80 mmHg by 48-h ABP monitoring.Conclusions. The prevalence of hypertension in haemodialysis patients assessed by 48-h ABP monitoring is very high. Prehaemodialysis BP poorly reflects the 48 h-ABP burden. About a third of the haemodialysis population has white coat or masked hypertension. These findings add weight to consensus documents supporting the use of ABP monitoring for proper hypertension diagnosis and treatment in this population. Show less
