A Novel Semisupervised Contrastive Regression Framework for Forest Inventory Mapping with Multisensor Satellite Data

Accurate mapping of forests is critical for forest management and carbon stocks monitoring. Deep learning is becoming more popular in Earth Observation (EO), however, the availability of reference data limits its potential in wide-area forest mapping. To overcome those limitations, here we introduce contrastive regression into EO based forest mapping and develop a novel semisupervised regression framework for wall-to-wall mapping of continuous forest variables. It combines supervised contrastive regression loss and semi-supervised Cross-Pseudo Regression loss. The framework is demonstrated over a boreal forest site using Copernicus Sentinel-1 and Sentinel-2 imagery for mapping forest tree height. Achieved prediction accuracies are strongly better compared to using vanilla UNet or traditional regression models, with relative RMSE of 15.1% on stand level. We expect that developed framework can be used for modeling other forest variables and EO datasets

Deep neural networks with transfer learning for forest variable estimation using sentinel-2 imagery in boreal forest

Estimation of forest structural variables is essential to provide relevant insights for public and private stakeholders in forestry and environmental sectors. Airborne light detection and ranging (LiDAR) enables accurate forest inventory, but it is expensive for large area analyses. Continuously increasing volume of open Earth Observation (EO) imagery from high-resolution (|BIAS%| = 0.8%). We found 3×3 pixels to be the optimal size for the sampling window, and two to three hidden layer DNNs to produce the best results with relatively small improvement to single hidden layer networks. Including CHM features with S2 data and additional features led to reduced relative RMSE (RMSE% = 28.6–30.7%) but increased the absolute value of relative bias (|BIAS%| = 0.9–4.0%). Transfer learning was found to be beneficial mainly with training data sets containing less than 250 field plots. The performance differences of DNN and random forest models were marginal. Our results contribute to improved structural variable estimation performance in boreal forests with the proposed image sampling and input feature concept

Neurodevelopmental and neuroradiologic outcomes in patients with univentricular heart aged 5 to 7 years: Related risk factor analysis

ObjectiveDespite improved survival and neurodevelopmental outcome, children with hypoplastic left heart syndrome and other forms of univentricular heart remain at increased risk for cognitive, motor, and other neurologic deficits.MethodsWe examined 27 children with hypoplastic left heart syndrome or other forms of univentricular heart at a median age of 5.70 years (range 4.99–7.51 years) and performed brain computed tomography or magnetic resonance imaging on 20. Possible risk factors were correlated with outcome.ResultsMean full-scale IQ among patients with hypoplastic left heart syndrome was 86.7; that among patients with other forms of univentricular heart was 89.1, with both differing significantly from the expected population mean (P = .015 and P = .029, respectively). Cerebral palsy was diagnosed in 1 of 7 patients with hypoplastic left heart syndrome and 2 of 20 with other forms of univentricular heart. Brain computed tomography or magnetic resonance imaging revealed ischemic changes and infarcts or atrophy in 5 of 8 patients who had undergone the Norwood procedure and in 2 of 12 of those who had not (P = .062). Abnormal computed tomographic findings correlated significantly with lower full-scale IQ (P = .045) and verbal IQ (P = .02). In the multiple linear regression model, diuresis the third day after the primary operation and cardiopulmonary bypass time in the bidirectional Glenn operation correlated significantly with the primary outcome of full-scale IQ.ConclusionIn children with univentricular heart, intellectual and neurologic deficits are common. Perioperative and postoperative risk factors related to the primary phase and bidirectional Glenn operation contribute to these deficits

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has generated a data set of 3,781 whole genomes sequenced at low depth (average 7x), aiming to exhaustively characterize genetic variation down to 0.1% minor allele frequency in the British population. Here we demonstrate the value of this resource for improving imputation accuracy at rare and low-frequency variants in both a UK and an Italian population. We show that large increases in imputation accuracy can be achieved by re-phasing WGS reference panels after initial genotype calling. We also present a method for combining WGS panels to improve variant coverage and downstream imputation accuracy, which we illustrate by integrating 7,562 WGS haplotypes from the UK10K project with 2,184 haplotypes from the 1000 Genomes Project. Finally, we introduce a novel approximation that maintains speed without sacrificing imputation accuracy for rare variants

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

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)

Varhainen vuorovaikutus lapsiperheiden terveyden edistämisessä

Opinnäytetyö on osahanke Terveyttä edistävien työmenetelmien rviointi ja kehittäminen 2009-2011 -Näkökulmana lapsiperheiden ja nuorten palvelut -hankkeessa. Tarkoituksena on tutkia, miten Helsingin kaupungin neuvolan terveydenhoitajat ymmärtävät varhaisen vuorovaikutuksen tukemisen omassa työssään ja miten se toteutuu heidän käytännön toiminnassaan. Tutkimuksessa selvitetään myös terveydenhoitajien näkemyksiä VAVU-työmenetelmän soveltuvuudesta perheiden tukemiseen sekä varhaisen vuorovaikutuksen toteutumista edistäviä ja estäviä tekijöitä. Tutkimusaineisto kerättiin haastattelemalla kuutta Helsingin kaupungin neuvoloissa työskentelevää terveydenhoitajaa. Kaikki haastateltavat olivat käyneet varhaisen vuorovaikutuksen tukeminen perustason työssä -koulutuksen (VAVU-koulutus). Haastattelut toteutettiin teemahaastatteluina, ja tutkimusaineisto analysoitiin induktiivisella sisällönanalyysillä. Terveydenhoitajat kuvasivat varhaisen vuorovaikutuksen tukemisen olevan perheen pitkäjänteistä auttamista. Tavoitteena on vahvistaa vanhempien vuorovaikutustaitoja, turvata lapselle hyvä psyykkinen kehitys ja luoda luottamuksellinen ilmapiiri vastaanotolla. Terveydenhoitaja tukee perhettä antamalla käytännön tietoa ja auttamalla ongelmissa. Perhe voimaantuu, kun työote on kuunteleva ja perhekeskeinen. Terveydenhoitaja auttaa vanhempia vauvan viestien tulkinnassa mallittamisen ja peilaamisen avulla. Varhaista vuorovaikutusta tukemalla parannetaan vanhempien ja vauvan välistä kiintymyssuhdetta, vahvistetaan perheen voimavaroja ja sosiaalisia tukiverkostoja. Varhaisen vuorovaikutuksen toteutumista edistäviä tekijöitä ovat terveydenhoitajien mukaan asiakkaan ja terveydenhoitajan välinen hyvä kumppanuussuhde, terveydenhoitajan ammatillisuus ja hoidon jatkuvuus. Estäviä tekijöitä ovat ongelmat asiakkaan ja terveydenhoitajan vuorovaikutussuhteessa ja ulkoiset tekijät, kuten puutteelliset resurssit. Terveydenhoitajat halusivat kehittää suunnattuja kotikäyntejä, perheiden ryhmävastaanottoja ja hoitopolkuja. Ammattitaidon parantamiseksi tarvitaan koulutusta, työnohjausta, vuoropuhelua oman ammattikunnan välillä ja moniammatillisen tiimityöskentelyn tehostamista. Riittävät resurssit takaavat perheelle hyvän palvelun ja auttavat terveydenhoitajaa ylläpitämään ja kehittämään työn laatua. Tuloksia voidaan hyödyntää neuvolatoiminnan ja terveydenhoitajan työmenetelmien kehittämisessä.This final project was a sub-project of the Development of Health Promotion Practices in Primary Health Care – Focus on Child Adolescent Health project. Our purpose was to study how public health nurses at the child health clinics of the city of Helsinki, saw their role in supporting early interaction and how they provide such support in practice. We studied the suitability of the early interaction (VAVU) method for supporting families and factors promoting or preventing early interaction. We collected our study material by interviewing six public health nurses working at child health clinics in Helsinki, Finland. All our interviewees had received the VAVU training. Our interviews focused on certain themes, and we analysed the material using the inductive content analysis method. The public health nurses described the support for early interaction as a way of helping families in the long run. The objective was to enhance the parents’ interaction skills, promote the child’s psychological development and create an atmosphere of confidence during their clinic visits. The public health nurse supported the family by giving practical information and helping in case of problems. The family was empowered, when the public health nurse was family-oriented and focused on listening. The nurse helped the parents to interpret their baby’s messages through modelling and reflection. The support for early interaction helped to improve parent-baby attachment, empower the family and strengthen their social support network. The factors that promoted early interaction included a good partnership between the client and the public health nurse, public health nurses' professional attitude and continuity in the care. Preventing factors, on the other hand, included problems in the interaction between the client and the public health nurse and external factors, such as inadequate resources. The interviewees wanted to develop home visits, group sessions for families and care pathways. To improve the public health nurses’ professional skills, training, work supervision and improved multi-professional teamwork are needed. Sufficient resources guarantee good service for families and help public health nurses to maintain and develop their services. The results of our study may be utilised in developing the operation of child health clinics and the public health nurses’ working methods

Hoitohenkilökunnan kokemuksia lääkkeiden koneellisen annosjakelun käytöstä ja lääkitysturvallisuuden toteutumisesta palveluasumisen yksiköissä

Tämän opinnäytetyön tarkoituksena oli selvittää kotihoidon palveluasumisessa työskentelevien hoitajien kokemuksia lääkkeiden koneellisen annosjakelun käytöstä päivittäisessä hoitotyössä ja lääkitysturvallisuuden toteutumisesta annosjakelun käytön yhteydessä. Opinnäytetyön kysymysten kautta tavoitteena oli tuottaa tietoa lääkehoitoprosessien kehittämiseksi. Opinnäytetyön lähestymistapana oli laadullinen tutkimus. Hoitohenkilökunnan kokemuksia kerättiin teemahaastattelun avulla. Haastatteluteemoina olivat koneellisen lääkkeiden annosjakelun käyttö päivittäisessä hoitotyössä ja lääkehoidon turvallisuus koneellisen lääkkeiden annosjakelun käytön yhteydessä. Haastattelut toteutettiin eteläsuomalaisen kunnan palveluasumisen yksiköiden kanssa. Haastatteluun osallistui hoitajia kahdesta palveluasumisen yksiköstä. Haastateltavat olivat sairaanhoitajia ja lähihoitajia tavallisen ja tehostetun palveluasumisen yksiköistä. Haastattelut toteutettiin tammikuussa 2013. Aineisto analysoitiin sisällönanalyysin avulla. Opinnäytetyön tulosten mukaan lääkkeiden koneellisen annosjakelun koetaan tuovan päivittäiseen hoitotyöhön sekä etuja että haittoja. Koneellinen lääkkeiden annosjakelu koetaan yleisesti turvalliseksi, mutta se ei kuitenkaan yksin takaa turvallisuuden toteutumista ja poista lääkityspoikkeaman mahdollisuutta. Haasteellisena koetaan lääkemuutosten toteuttaminen koneellisen annosjakelun yhteydessä. Tämän opinnäytetyö tulosten mukaan turvallisuuden toteutumiseen vaikuttavat oleellisesti myös yksiköiden toimintaprosessit ja ympäristötekijät. Hoitajien kokemukset koneellisen annosjakelun käytön yhteydessä nähtävissä kehittämiskohteista eivät liittyneet ainoastaan suoraan annosjakelun käyttöön, vaan sen käytön yhteydessä olevien toimintojen parantamiseen. Annosjakelun käytön kannalta tärkeänä nähtiin, että kaikki asiakkaat olisivat saman apteekin asiakkaita. Lisäksi hoitajat kaipaavat yhteneväisiä toimintamalleja, toisenlaista vastuunjakoa ammattiryhmien kesken ja lääkehoitoon liittyvän tiedottamisen parantamista. Tuloksista ilmenee, että lääkehoidon prosessien joillakin osa-alueilla koetaan olevan vielä kehitettävää. Annosjakelun käytön yhteydessä olevat toiminnot ja varmistukset tulee hoitaa huolellisesti, jotta turvallisuus säilyy koko prosessin ajan. Jatkotutkimusaiheeksi voidaan esittää selvitystä annosjakelun tarkoituksenmukaisuudesta erilaisilla asiakasryhmillä, tehdä lisäselvitystä sen turvallisuudesta ja käytön tuomista eduista erilaisissa hoitoyksiköissä. Lisäksi on tarpeellista selvittää, millä tavoin kaikkien toimijoiden kesken tapahtuvaa tiedonkulkua voidaan parantaa ja millaista lääkehoidon koulutusta hoitajat kokevat tarvitsevansa annosjakelua käytettäessä.The experiences of automated dose dispensing and the experiences on realization medical safety by the nursing stuff in the service living unit The purpose of this thesis was to describe the experiences of nurses working in shelter houses using automated medicine dose dispensing on daily basis, and the safety of using it. The main goal was to produce information that could improve the process of administering medicines. This thesis was implemented as a qualitative study. The experiences of the nurses were collected by theme interviews. The interview themes were: using automated dose dispensing in daily nursing, and the medical safety of using automated dispensing. The interviews were carried out in southern Finland in January 2013. Nurses and practical nurses were interviewed from a standard and an enhanced assisted living unit. The material was analyzed with the method of content analysis. According to the results the automated dose dispensing model is perceived to bring both advantages and disadvantages, in that automated dose dispensing was found safe, but it doesn't guarantee safety, and it doesn't remove the possibility of errors. The medicinal changes were found challenging, when using automated dose dispensing. Furthermore, functional processes and environmental factors substantially affect the realization of safety in making those changes. All the functions and the back-up procedures need to be done carefully to maintain safety. Development ideas suggested by the nurses, after using automated dose dispensing, were not just focused on use, but were focused on the improvement of the functions as well. It is shown in the material that there is a need to have a coherent approach within the different medical processes, and their roles should be clarified. Responsibilities between professional groups should be organized differently. Availability of information about medicines should be improved, and the processes should be clear. Also it was seen important in dose distribution, that all clients are customers of the same pharmacy. In follow-up research, it is necessary to determine if automated dose dispensing is suitable for different client groups, analyse its safety within each group, and outline the benefits automated dosing brings to nurses in different nursing units. In addition, it is necessary to find a way to improve the information flow and determine the kind of training the nurses feel they need when using automated dose dispensing in their unit