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Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene

Mutations in the glucocerebrosidase (GBA) gene have been associated with the development of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line was generated from a 60-year old patient diagnosed with PD and carrying a new mutation variant p.R301C in GBA. Using non-integrating Sendai virus-based technology, we utilized OCT3/4, SOX2, c-MYC and KLF4 transcription factors to reprogr

On the discovery of new elements (IUPAC/IUPAP Provisional Report) : Provisional Report of the 2017 Joint Working Group of IUPAC and IUPAP

Almost thirty years ago the criteria that are currently used to verify claims for the discovery of a new element were set down by the comprehensive work of a Transfermium Working Group, TWG, jointly established by IUPAC and IUPAP. The recent completion of the naming of the 118 elements in the first seven periods of the Periodic Table of the Elements was considered as an opportunity for a review of

SOX9 is a major negative regulator of cartilage vascularization, bone marrow formation and endochondral ossification

SOX9 is a transcription factor of the SRY family that regulates sex determination, cartilage development and numerous other developmental events. In the foetal growth plate, Sox9 is highly expressed in chondrocytes of the proliferating and prehypertrophic zone but declines abruptly in the hypertrophic zone, suggesting that Sox9 downregulation in hypertrophic chondrocytes might be a necessary step

Leukocyte telomere length predicts SSRI response in major depressive disorder : A preliminary report

Short leukocyte telomere length (LTL) may be associated with several psychiatric disorders, including major depressive disorder (MDD). Short LTL has previously been associated with poor response to psychiatric medications in bipolar disorder and schizophrenia, but no studies have prospectively assessed the relationship of LTL to SSRI response in MDD. We assessed pre-treatment LTL, depression sever

Indivisible Wholes & Fragmented Realities : On the Aggregation of Disaster Risk Information

Orkanen Katrina, tsunamin i Indiska oceanen, Lehmankraschen och 11-september attackerna är bara några exempel på sentida händelser som väckt frågor kring vår förmåga att förutse och förstå katastrofrisker. I efterhand är det dock lätt att glömma att vi alltid har ett oändligt antal potentiella scenarier framför oss, men bara ett förflutet, vilket kan få oss att överdriva förutsägbarheten för händeDivision of labor and trade have been prerequisites for the development of welfare societies. Ironically, this specialization has caused a fragmentation of the knowledge necessary to understand risks that may undermine societal safety. This has not only prompted a need for inter-organizational exchange and integration of disaster risk information, it has also prompted a need for understanding how

A soil microbial model to analyze decoupled microbial growth and respiration during soil drying and rewetting

Soils are continuously exposed to cycles of drying and rewetting (D/RW), which drive pronounced fluctuations in soil carbon (C) fluxes. These C dynamics are characterized by a decoupled behavior between microbial biomass synthesis (growth) and CO2 production (respiration). In general, respiration rates peak shortly after RW and subsequently decrease, while the growth peaks lag several hours behind

Modeling of new particle formation and growth in the atmospheric boundary layer

Globalt sett lever 8 av 10 människor i miljöer där luftföroreningar i form av små luftburna partiklar ligger över riktlinjer satta av världshälsoorganisationen WHO. WHO uppskattar även att luftföroreningar ligger bakom 3.7 miljoner dödsfall varje år. Värst är det i delar av Asien, men även här i Sverige är luftkvaliteten ett problem; i Skåne t ex bedöms den genomsnittliga livslängden förkortas medAtmospheric aerosols affect climate, but to what degree still remains one of the largest uncertainties in global climate models. To improve the representation of aerosols in future climate models we need a greater understanding of aerosol processes. In this thesis the process-based model ADCHEM has been used and further developed to study aerosol processes. Specifically; new particle formation and

Protocol for meta-analysis of temperature reduction in animal models of cardiac arrest

Targeted temperature management (TTM) of 32-34 °C has been the standard treatment for out-of-hospital cardiac arrest since clinical trials in 2002 showed benefits to survival and neurological outcome. Recently, this treatment has been challenged by another clinical trial showing no difference in outcome between TTM of 33 °C and 36 °C. This protocol describes the methodology for a meta-analysis det

On the discovery of new elements (IUPAC/IUPAP Report) : Report of the 2017 Joint Working Group of IUPAC and IUPAP

Almost thirty years ago the criteria that are currently used to verify claims for the discovery of a new element were set down by the comprehensive work of a Transfermium Working Group, TWG, jointly established by IUPAC and IUPAP. The recent completion of the naming of the 118 elements in the first seven periods of the Periodic Table of the Elements was considered as an opportunity for a review of

Scoliosis in cerebral palsy

Cerebral pares (CP) är den vanligaste orsaken till motorisk funktionsnedsättning hos barn och ungdomar och årligen föds ca 200 barn med CP i Sverige. Symtomen vid CP varierar, men karaktäriseras av bland annat nedsatt rörelseförmåga och nedsatt förmåga att stabilisera kroppen. Nästan åtta av tio vuxna med CP besväras av korta och spända muskler, snedställda leder och smärta som påverkar deras funkBackgroundIndividuals with cerebral palsy (CP) have an increased risk for scoliosis, especially those with low gross motor function, affecting both quality of life and overall function. The aims were to increase the knowledge on the development of, and predictors for scoliosis and the use of spinal orthoses in individuals with CP, and also to evaluate the Caregiver Priorities and Child Health Inde

Quantitative versus standard pupillary light reflex for early prognostication in comatose cardiac arrest patients : an international prospective multicenter double-blinded study

Purpose: To assess the ability of quantitative pupillometry [using the Neurological Pupil index (NPi)] to predict an unfavorable neurological outcome after cardiac arrest (CA). Methods: We performed a prospective international multicenter study (10 centers) in adult comatose CA patients. Quantitative NPi and standard manual pupillary light reflex (sPLR)—blinded to clinicians and outcome assessors—

Older Adults with Autism Spectrum Disorders in Sweden : A Register Study of Diagnoses, Psychiatric Care Utilization and Psychotropic Medication of 601 Individuals

In a Swedish sample of persons eligible for disability services and aged 55 years or older in 2012, persons (n = 601) with autism spectrum disorder diagnoses registered in specialist care were identified. Register data concerning diagnoses of other psychiatric disorders, psychiatric care, and psychiatric medication were reviewed. More than 60% had been in contact with psychiatric care. The majorit

Lund Eye Tracking Studies in Research on Language and Cognition

The research group from Humanities laboratory at Lund University, Sweden, presents three strands of research on language and cognition where eye-tracking methodology has been used as a window on the mind. The paper includes: (1) eye tracking studies on picture viewing and picture description showing the dynamics of how speakers perceive, conceptualize and spontaneously describe complex visual scen

Timing of gazes in child dialogues: a time-course analysis of requests and back channelling in referential communication.

Background: This study investigates gaze behaviour in child dialogues. In earlier studies the authors have investigated the use of requests for clarification and responses in order to study the co-creation of understanding in a referential communication task. By adding eye tracking, this line of research is now expanded to include non-verbal contributions in conversation. Aims: To investigate

A knowledge integration framework for robotics

This paper describes a knowledge integration framework for robotics, whose goal is to represent, store, adapt, and distribute knowledge across engineering platforms. The architecture abstracts the components as data sources, where data are available in the AutomationML data exchange format. AutomationML is an on-going standard initiative that aims at unifying data representation and APIs used by e