Unverricht-Lundborg disease (EPM1) in Finland: A nationwide population-based study

To investigate the epidemiology and prognosis of Unverricht-Lundborg disease (EPM1) in a nationwide, population-based setting.Data from multiple registries were combined and analyzed. Clinical data were obtained from medical records. All patients treated for EPM1 in Finland between January 1, 1998, and December 31, 2016 were included.A total of 135 persons with EPM1 (54% women) were identified and 105 were alive on December 31, 2016 (point prevalence 1.91/100,000 persons). The age-standardized (European Standard Population 2013) prevalence was 1.53/100,000 persons. Annual incidence during the study period was 0.022/100,000 person-years, with a mean age at onset of 9.4 ± 2.3 years (range 7.0-14.6 years, no sex difference). The median age at death (n = 34) was 53.9 years (interquartile range 46.4, 60.3; range 23.2-63.8), with no sex differences. The immediate cause of death was a lower respiratory tract infection in 56% of deaths. The survival rates of the patients were comparable to matched controls up to 40 years of age, but poorer during long-term follow-up (cumulative survival 26.4% vs 78.0%), with a hazard ratio (HR) for death of 4.61. The risk of death decreased with increasing age at onset (HR 0.76 per year, 95% confidence interval 0.65-0.89). In approximately 10% of all cases, the disease progression appeared very mild; some patients retained functional independence for decades.Unverricht-Lundborg disease is rare in Finland but still more common than anywhere else in the world. The disease course appears somewhat more severe than elsewhere, disability mounts early, and death occurs prematurely.</div

New national and regional biological records for Finland 4. Contributions to agaricoid and ascomycetoid taxa of fungi 3

Agaricoid fungi (Basidiomycota): Cortinarius chromataphilus, Cortinarius croceocaeruleus, Cortinarius disjungendulus, Cortinarius nolaneiformis, Cortinarius olididisjungendus, Cortinarius piceidisjungendus, Crepidotus stenocystis, Entoloma callirhodon, Entoloma rhombisporum, Hydropus marginellus, Macrocystidia cucumis var. latifolia, Russula clementinae, Russula fellea, Russula mairei, Russula roseicolor and three ascomycetoid fungi (Ascomycota): Eutypella extensa, Octospora coccinea and Sporormiella megalospora are reported as new to Finland. Information of species recently published elsewhere: Cortinarius balteatialutaceus, Cortinarius balteatibulbosus, Cortinarius balteaticlavatus, Cortinarius boreicyanites, Cortinarius boreidionysae, Cortinarius brunneiaurantius, Cortinarius caesiocolor, Cortinarius caesiolamellatus, Cortinarius caesiophylloides, Cortinarius cremeiamarescens, Cortinarius flavipallens, Cortinarius infractiflavus, Cortinarius kytoevuorii, Cortinarius luteiaureus, Cortinarius myrtilliphilus, Cortinarius ochribubalinus, Cortinarius pallidirimosus, Cortinarius subrubrovelatus, Cortinarius talimultiformis, Inocybe fuscescentipes and Inocybe subpaleacea is brought here together. New records of little collected and rare taxa Camarops tubulina, Catathelasma imperiale, Entoloma longistriatum, Galerina calyptrospora, Hyaloscypha epiporia, Hymenogaster tener, Porpoloma metapodium and Sowerbyella imperialis are also listed. Corrections of previous information are given on: Cortinarius balteatoalbus, Cortinarius crassifolius (under C. coracis), Cortinarius cyanites, Cortinarius dionysae and Inocybe lindrothii

Analysis of shared heritability in common disorders of the brain

ience, this issue p. eaap8757 Structured Abstract INTRODUCTION Brain disorders may exhibit shared symptoms and substantial epidemiological comorbidity, inciting debate about their etiologic overlap. However, detailed study of phenotypes with different ages of onset, severity, and presentation poses a considerable challenge. Recently developed heritability methods allow us to accurately measure correlation of genome-wide common variant risk between two phenotypes from pools of different individuals and assess how connected they, or at least their genetic risks, are on the genomic level. We used genome-wide association data for 265,218 patients and 784,643 control participants, as well as 17 phenotypes from a total of 1,191,588 individuals, to quantify the degree of overlap for genetic risk factors of 25 common brain disorders. RATIONALE Over the past century, the classification of brain disorders has evolved to reflect the medical and scientific communities' assessments of the presumed root causes of clinical phenomena such as behavioral change, loss of motor function, or alterations of consciousness. Directly observable phenomena (such as the presence of emboli, protein tangles, or unusual electrical activity patterns) generally define and separate neurological disorders from psychiatric disorders. Understanding the genetic underpinnings and categorical distinctions for brain disorders and related phenotypes may inform the search for their biological mechanisms. RESULTS Common variant risk for psychiatric disorders was shown to correlate significantly, especially among attention deficit hyperactivity disorder (ADHD), bipolar disorder, major depressive disorder (MDD), and schizophrenia. By contrast, neurological disorders appear more distinct from one another and from the psychiatric disorders, except for migraine, which was significantly correlated to ADHD, MDD, and Tourette syndrome. We demonstrate that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine. We also identify significant genetic sharing between disorders and early life cognitive measures (e.g., years of education and college attainment) in the general population, demonstrating positive correlation with several psychiatric disorders (e.g., anorexia nervosa and bipolar disorder) and negative correlation with several neurological phenotypes (e.g., Alzheimer's disease and ischemic stroke), even though the latter are considered to result from specific processes that occur later in life. Extensive simulations were also performed to inform how statistical power, diagnostic misclassification, and phenotypic heterogeneity influence genetic correlations. CONCLUSION The high degree of genetic correlation among many of the psychiatric disorders adds further evidence that their current clinical boundaries do not reflect distinct underlying pathogenic processes, at least on the genetic level. This suggests a deeply interconnected nature for psychiatric disorders, in contrast to neurological disorders, and underscores the need to refine psychiatric diagnostics. Genetically informed analyses may provide important "scaffolding" to support such restructuring of psychiatric nosology, which likely requires incorporating many levels of information. By contrast, we find limited evidence for widespread common genetic risk sharing among neurological disorders or across neurological and psychiatric disorders. We show that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures. Further study is needed to evaluate whether overlapping genetic contributions to psychiatric pathology may influence treatment choices. Ultimately, such developments may pave the way toward reduced heterogeneity and improved diagnosis and treatment of psychiatric disorders

Content-based matching of line-drawing images using the Hough transform

We intro duc two novel methods for cr tentbasedmatc hing of line-drawing images. The methods are based on the Hough transform (HT),whic h is used to extrac global line features in an image. The parameter spac of the HT is first thresholded in order to preserve only the mostsignificM t values. In the first method, a feature vecA7 isc:::EMI]2E by summing up the significi tc oe#c27 ts ineac hc:6MA of theacIK ulator matrix. In this way, only the angular information is used. This approac h enables simple implementation ofscKM7 translation, and rotation invariantmatc hing. ThesecKM variant alsoincIE2A positional information of the lines and gives a more representativedesc6I]2KE of the images. Therefore, itac hieves moreaceI:#2 imagematc hing at the ceI of more running time

Analysis of Shared Heritability in Common Disorders of the Brain

Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common variant risk, whereas neurological disorders appear more distinct from one another and from the psychiatric disorders. We also identified significant sharing between disorders and a number of brain phenotypes, including cognitive measures. Further, we conducted simulations to explore how statistical power, diagnostic misclassification, and phenotypic heterogeneity affect genetic correlations. These results highlight the importance of common genetic variation as a risk factor for brain disorders and the value of heritability-based methods in understanding their etiology