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One of the challenges of genetic testing in patients with hemophilia A is the interpretation of sequence variants. Here we report a silent variant found in exon 2 in the F8 gene in a 47-year-old patient with a previous von Willebrand disease (VWD) type 1 diagnosis. Clinically he had mild bleeding symptoms restricted to prolonged bleeding from minor wounds. Sanger sequencing of F8 gene using genomi

Support for developing a work identity hasbeen shown to be essential for the recovery process ofyoung adults with mental health problems. Sinceresearch shows that the development of a student roleduring the educational years for these young adultsmay be interrupted, this time period may be relevant toexplore in order to support career development and thecritical transition to adulthood for this ta

The current threats of climate change connected to the unsustainable consumption of fossil resources paired with an increasing world population demands the exploration of alternative raw materials for the production of food, fuel and specialty chemicals. Agricultural waste streams present suitable sources due to their availability in large quantities at low costs without competing with current foo

Heparin-binding protein (HBP) is a promising biomarker for the development and severity of sepsis. To guide its use, it is important to understand the factors that could lead to false-positive or negative results, such as inappropriate release and inadequate clearance of HBP. HBP is presumably released only by neutrophils, and the organs responsible for its elimination are unknown. In this study,

BACKGROUND: The mechanisms of association between diabetes and inner ear dysfunction are unknown, although endolymphatic hydrops may be involved. We have previously shown that insulin signaling components are expressed in human saccule and that insulin signaling takes place in HEI-OC1 auditory cells.AIM: To explore Nedd4-2 as a target for insulin signaling.MATERIALS AND METHODS: Effects of insulin

Electromagnetic form factors serve to explore the intrinsic structure of nucleons and their strangeness partners. For the decay S0 ? ?e+e-, due to limited phase space, the effects caused by the Sigma-to-Lambda transition form factors compete with the QED radiative corrections. These corrections are addressed in the present work, evaluated beyond the soft-photon approximation, i.e., over the whole

Within the Standard Model Effective Field Theory framework, with operators up to dimension 6, we perform a model-independent analysis of the lepton-flavour-violating processes involving tau leptons. Namely, we study hadronic tau decays and l-t conversion in nuclei (l = e, µ). Based on available experimental limits, we establish constraints on the Wilson coefficients of the operators contributing t

T. Larspers har presenterat en väl genomarbetad presentation utifrån flera aspekter av det kristna livet kring Siljansbygden vid sekelskiftet 1800-1900. Han har visat att lokalhistoria inte bara handlar om beskrivningar av det lokala utan är både informationsberikande och har en förklaringspotential som förutsätter både resultat från kvalificerad forskning och fördjupande reflektion.

Molekylär kunskap om tumörutveckling leder till allt fler målinriktade cancerbehandlingar.Heltäckande molekylär tumörkarakterisering ger möjlighet att undersöka samtliga behandlingsalternativ med en analys.Arbetsutskottet för solida tumörer inom Genomic Medicine Sweden samarbetar för att etablera regional och nationell infrastruktur för storskalig tumörsekvensering och kopplad dataanalys i sjukvårRapidly expanding knowledge of the molecular landscape of cancers has resulted in the implementation of an increasing number of specific therapies targeted at tumors with specific molecular aberrations. In response to this development, new tools for predictive testing for molecular targets need to be implemented in routine health care. To achieve robust future molecular diagnostic pathology, and e

Precisionsmedicin i form av specifik molekylär dia­gnostik och skräddarsydd behandling är sedan länge standard för flera hematologiska sjukdomar.Vid mer komplexa hematologiska maligniteter är genpanelsekvensering i dag ett viktigt diagnostiskt verktyg och utgör grund för prognostisk bedömning och riktad behandling.Genpanelsekvensering kan även påvisa ärftlig predisposition för vissa hematologiska Precision diagnostics and therapy have been implemented rather early in clinical hematology due to the easy accessibility of blood and bone marrow, allowing not only for consecutive genetic analysis at diagnosis, remission and relapse, but also for culturing these cells and testing new drugs in vitro. One contributing factor has also been the relatively low number of »driver« mutations in hematolo

Lungultraljud har visat god precision och reproducerbarhet som diagnostiskt komplement till klinisk undersökning vid akut dyspné. Lungultraljud utförs bedside och är relativt lätt att lära sig, men kräver träning och strukturerat utförande för att inte resultera i felaktiga diagnoser.Lungultraljud baseras till största delen på tolkning av artefakter. Vid en normalt luftfylld lunga bildas horisonteUltrasound plays an important role in several medical fields. The heart was the first organ for which ultrasound gained clinical utility, followed by obstetric and gynecological applications. Shortly thereafter, abdominal organs and blood vessels became targets for ultrasound examination. The lung was long considered inaccessible for ultrasound due to its high air content. Work since the 1990s has

Centralt för en fungerande portfölj:Systematisk uppföljning av studenters lärande och progression sker genom sammanställning av aktiviteter, upprepade bedömningar och återkoppling.Den ger stöd för studenternas självstyrda lärande.Den har ett tydligt syfte och är anpassad till utbildningens mål. Det framgår tydligt vad studenter och lärare förväntas göra.Portfolio used in education can be defined as a collection of documentation of performed learning activities, feedback, and progress. Currently, the documentation is electronic, hence the term e-portfolio is used. The portfolio must have a clear purpose and be aligned with the learning outcomes of the program. To be successfully implemented a portfolio must be an integral part of the education wit

We show that computing the Tutte polynomial of a linear matroid of dimension k on kO(1) points over a field of kO(1) elements requires kΩ(k) time unless the #ETH-a counting extension of the Exponential Time Hypothesis of Impagliazzo and Paturi [CCC 1999] due to Dell et al. [ACM TALG 2014]-is false. This holds also for linear matroids that admit a representation where every point is associated to a