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The Genotypic and Phenotypic Spectrum of GOSR2 Mutations : Clinical and Pathophysiological Insights

North Sea-Progressive Myoclonus Epilepsy (NS-PME) is a progressive neurological disorder, initially only associated with the homozygous GOSR2 founder mutation (c.430G>T; p.Gly144Trp). Clinical symptoms include untreatable early-onset ataxia, cortical myoclonus and epilepsy. Recently, the spectrum of GOSR2 mutations and associated phenotypic variability has expanded. To improve care and to facilita

Characterisation of Postural Orthostatic Tachycardia Syndrome (POTS) : Findings from a physician chart-audit pre- and post-COVID-19

INTRODUCTION: Postural orthostatic tachycardia syndrome (POTS) is a complex disorder with challenging diagnosis and management.METHODS: This cross-sectional, multi-national, web-based physician chart audit described clinical features and management of POTS, offering insights into disease burden and outcomes before and after the COVID-19 pandemic.RESULTS: Physicians (n = 153), primarily cardiologis

Supervised online training of clinicians in the assessment and treatment of young people with body dysmorphic disorder : a feasibility study

Body dysmorphic disorder (BDD) is frequently overlooked and untreated due to insufficient awareness and expertise in mental health settings. We developed a supervisor-supported online education programme to train clinicians in the assessment and treatment of young people with BDD and evaluated its feasibility and preliminary effects. Thirty clinicians working within child and adolescent mental hea

The effect of treatment with bisoprolol-first versus enalapril-first on cardiac structure and function in heart failure

Background: In CIBIS III, initiating chronic heart failure (CHF) treatment with bisoprolol (target dose 10 mg q.d.) followed by combination therapy with enalapril (target dose 10 mg b.i.d.), compared to the opposite order, showed similar effects on survival and hospitalization. By echocardiography, we evaluated the effects of these treatment strategies on cardiac structure and function. Methods: I

Perlecan heparan sulfate deficiency impairs pulmonary vascular development and attenuates hypoxic pulmonary hypertension.

Excessive vascular cell proliferation is an important component of pulmonary hypertension (PH). Perlecan is the major heparan sulfate (HS) proteoglycan in the vascular extracellular matrix. It binds growth factors, including FGF2, and either restricts or promotes cell proliferation. In this study, we have explored the effects of perlecan HS deficiency on pulmonary vascular development and in hypox

Fingerprint Image Restoration Using the U-Net Deep Learning Model

När biometriska metoder används för autentisering är det viktigt både att processen är korrekt, och går snabbt. Givetvis ska en obehörig användare inte kunna passera autentiseringsprocessen, och givetvis är det fördelaktigt om autentiseringen inte tar lång tid. Vid biometrisk fingeravtrycksigenkänning finns flertalet faktorer som försvårar matchningen. Brist på ljus kan göra fingeravtrycksbilden fThis thesis investigated the use of convolutional neural networks (CNNs) for image restoration of fingerprint images, focusing on the reconstruction from raw sensor images to denoised fingerprint images, suitable for matching. Fingerprint images from sensors often introduce noise and artifacts that inhibit the matching process. The goal was to develop a CNN-based approach capable of removing artif

Learning outcomes of infants and young children with spinal muscular atrophy type I provided with modified-electric-toy-cars in their natural environment

Objectives: To examine powered mobility learning in children with spinal muscular atrophy (SMA) type I, involving families and evaluating goal attainment through the use of small, modified electric toy cars in the children’s natural environments. Design: Single-blind pilot intervention study derived from an originally planned wait-list randomized controlled trial. This report includes only the imm

‘Waar is beter dorp in Zuid Africa dan Stellenbos?’ : What the Stellenbosch-Drakenstein Tax Censuses Reveal

In 1825, an unnamed Stellenbosch official paused his tax collection duties to pen a poem in the margins of the opgaafrol. His verses capture the frustrations of colonial administration but the records themselves–annual tax censuses spanning 1685 to 1844–offer a far richer window into the Cape Colony’s social and economic history. First established by the Dutch East India Company and later maintain

Study protocol for a parallel-group randomized controlled trial of internet-delivered behavior therapy for adults with Tourette syndrome

INTRODUCTION: Tourette syndrome (TS) and chronic motor or vocal tic disorder (CTD) are neurodevelopmental disorders associated with functional impairment and reduced quality of life. Behavioral therapy (BT) is an effective treatment, but lack of experienced practitioners makes it hard for patients to receive appropriate help. One approach to bridge the gap between demand and availability is to off

Vibration issues in timber structures : A state-of-the-art review

The increasing use of timber structures worldwide has brought attention to the challenges posed by their lightweight nature, making them more prone to vibrations than more massive structures. Consequently, significant research efforts have been dedicated to understanding and mitigating vibrations in timber structures, while scientific committees strive to establish suitable design regulations. Thi

Tuning halide perovskite energy levels

The ability to control the energy levels in semiconductors is compelling for optoelectronic applications. In this study, we managed to tune the work function (WF) of halide perovskite semiconductors using self-assembled monolayers of small molecules to induce stable dipoles at the surface. The direction and intensity of the surface dipoles rely on specific molecule-to-surface interactions. Electro

Britta

REFERENSHANTERING Referencing & Sources Britta Smångs 2016-09-27 Academic honesty When using others work, reference it appropriately In academic work, we value academic honesty. Everything we present, we want to make sure consists of our own words. Whenever we rely on work from others, we make sure to clearly recognize that by using widely agreed referencing and citing techniques (…) We request fr

https://www.nateko.lu.se/sites/nateko.lu.se/files/britta.pdf - 2026-04-21

Ie2007 arr komp

IE_arrkomp_färgglad_termin1-9_m_ämnen.xls IE-arrangering/komposition 2007 års utbildning Åk5 termin 1 termin 2 termin 3 termin 4 termin 5 termin 6 Termin 7 Termin 8 Termin 9 Huvudämne arrangering Huvudämne arrangering Huvudämne arrangering Huvudämne arrangering Självständigt arbete 1:1, Arr/komp Självständigt arbete 1:2, Arr/komp Metoder och ledning 2 Metoder och ledning 3 Självständigt arbete 2 /

https://www.mhm.lu.se/sites/mhm.lu.se/files/ie2007_arr_komp.pdf - 2026-04-21

SIMM27 FINAL 220120

SIMM27 FINAL 220120 1 GRADUATE SCHOOL METHODS COURSES SIMM27 Methods of Text and Discourse Analysis Version 1.0 – Spring 2022 SPRING 2022 2 1. WELCOME SIMM27 METHODS OF TEXT AND DISCOURSE ANALYSIS Contact info Graduate School e-mail: master@sam.lu.se Home page: graduateschool.sam.lu.se Facebook: tinyurl.com/LUgradschoolFB Student Union Home page: samvetet.org Lund University Home page: http://lund

https://www.graduateschool.sam.lu.se/sites/graduateschool.sam.lu.se/files/2022-02/SIMM27%20FINAL%20220120.pdf - 2026-04-21

Rs-beslut-170127-170330

Bästa resultat får du om du öppnar den här PDF-portföljen i Acrobat X eller Adobe Reader X eller senare. Hämta Adobe Reader nu! http://www.adobe.com/go/reader_download_se Postadress Box 117, 221 00 Lund Besöksadress Universitetshuset, Paradisgatan 2 Telefon 046-222 70 24, 046-222 00 00, 072-231 71 64 E-post anna.akesson@rektor.lu.se Rektor Föreskrifter om val till universitetskollegiet samt val på

https://www.medarbetarwebben.lu.se/sites/medarbetarwebben.lu.se/files/rs-beslut-170127-170330.pdf - 2026-04-21

Attosecond temporal structure of non-consecutive harmonic combs revealed by multiple near-infrared photon transitions in two-color photoionisation

The metrology of attosecond pulse trains is based on a cross-correlation technique between a comb of extreme ultraviolet harmonics generated by the high-order harmonic generation process and a synchronised infrared field. The approach, usually referred to as reconstruction of attosecond beating by interference of two-photon transitions (RABBIT), allows one to recover the relative phase between the

Spectroscopy at N=Z with EUROBALL III

A complete study of the nuclear structure by means of gamma spectroscopy requires, in addition to the high resolution gamma measurement and accurate DCO's or angular distributions, the information concerning the Electric or Magnetic character of the transition. This information for transitions in nuclei far from stability valley is now reachable in the new generation of Ge-arrays based in composit

Geophysical Validation of SCIAMACHY NO2 Vertical Columns: Overview of Early 2004 Results

Following the recommendations drawn after the Commissioning Phase of the ENVISAT satellite in 2002, SCIAMACHY near real time data processors were upgraded to version 5.01 in early 2004. Before public release of the new SCIAMACHY nitrogen dioxide (NO2) vertical column data product, several validation teams investigated its improvement and assessed its geophysical consistency by means of correlative