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Genetic screening of children with suspected inherited bleeding disorders

INTRODUCTION: Genetic screening using high-throughput DNA sequencing has become a tool in diagnosing patients with suspected inherited bleeding disorders (IBD). However, its usefulness and diagnostic efficacy in children is unclear.AIM: To evaluate the diagnostic efficacy of genetic screening for IBD in children and downstream further testing.METHODS: After informed consent, children (<18 years) w

Risks of adverse events in patients with orthostatic intolerance undergoing surgery with general anesthesia

INTRODUCTION: Orthostatic intolerance (OI) is a group of disorders characterized by symptoms that occur upon standing and resolve with recumbence. Although well established but not widely recognized, these diagnoses may create uncertainty for clinicians dealing with a patient affected by OI and requiring a surgical procedure.OBJECTIVES: To determine the rate of intra- and postoperative major adver

Substrate and plant genotype strongly influence the growth and gene expression response to trichoderma afroharzianum T22 in sugar beet

Many strains of Trichoderma fungi have beneficial effects on plant growth and pathogen control, but little is known about the importance of plant genotype, nor the underlying mechanisms. We aimed to determine the effect of sugar beet genotypic variation on Trichoderma biostimulation. The effect of Trichoderma afroharzianum T22 on sugar beet inbred genotypes were investigated in soil and on sterile

Artificial neural networks improve and simplify intensive care mortality prognostication: a national cohort study of 217,289 first-time intensive care unit admissions

Purpose We investigated if early intensive care unit (ICU) scoring with the Simplified Acute Physiology Score (SAPS 3) could be improved using artificial neural networks (ANNs). Methods All first-time adult intensive care admissions in Sweden during 2009-2017 were included. A test set was set aside for validation. We trained ANNs with two hidden layers with random hyper-parameters and retained the

Inverse modeling of European CH4 emissions 2001-2006

European CH4 emissions are estimated for the period 2001-2006 using a four-dimensional variational (4DVAR) inverse modeling system, based on the atmospheric zoom model TM5. Continuous observations are used from various European monitoring stations, complemented by European and global flask samples from the NOAA/ESRL network. The available observations mainly provide information on the emissions fr

Autism spectrum disorders and coexisting disorders in a nationwide Swedish twin study

Background: Evidence from twin and molecular genetic studies is accumulating that Autism Spectrum Disorder (ASD) shares substantial etiological factors with other disorders. This is mirrored in clinical practice where ASD without coexisting disorders is rare. The present study aims to examine the range of coexisting disorders in ASD in a genetically informative cohort. Methods: Parents of all Swed

Interdialytic weight gain and ultrafiltration rate in hemodialysis: Lessons about fluid adherence from a national registry of clinical practice

Excessive interdialytic weight gain (IWG) and ultrafiltration rates (UFR) above 10 mL/h/kg body weight imply higher morbidity and mortality. This study aimed to estimate the prevalence of high fluid consumers, describe UFR patterns, and describe patient characteristics associated with IWG and UFR. The Swedish Dialysis DataBase and The Swedish Renal Registry of Active Treatment of Uremia were used

A negative trend of biomedical research in Libya: a bibliometric study

Background: It is well established that Libya is lagging behind its peers in biomedical research. The aim of this study is to analyse all the original biomedical publications affiliated with Libya from 1973 to 2007. Methods: PubMed and the Science Citation Index Expanded were searched for 'original research' biomedical studies affiliated with Libya. The generated data were hand searched and 329 'o

Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma

Pheochromocytoma and paraganglioma (PPGL) are rare tumours and at least 30% are part of hereditary syndromes. Approximately 20% of hereditary PPGL are caused by pathogenic germ line variants in genes of the succinate dehydrogenase complex (SDHx), TMEM127 or MAX. Herein we present guidelines regarding genetic testing of family members and their surveillance based on a thorough literature review. Al

The effect of preparation for lumbar puncture on children undergoing chemotherapy

At the University Hospital in Lund, Sweden, a preparation program was developed for children undergoing lumbar punctures (LPs) during chemotherapy for leukemia or lymphoma. Subsequently, a study was initiated to determine whether a preparation program for children prior (o treatment would reduce their anxiety and improve their cooperation. This study also was undertaken to examine whether reinforcAt the University Hospital in Lund, Sweden, a preparation program was developed for children undergoing lumbar punctures (LPs) during chemotherapy for leukemia or lymphoma. Subsequently, a study was initiated to determine whether a preparation program for children prior to treatment would reduce their anxiety and improve their cooperation. This study also was undertaken to examine whether reinforc

Genetic bottlenecks and the hazardous game of population reduction in cell line based research.

Established tumour cell lines are ubiquitous tools in research, but their representativity is often debated. One possible caveat is that many cell lines are derived from cells with genomic instability, potentially leading to genotype changes in vitro. We applied SNP-array analysis to an established tumour cell line (WiT49). Even though WiT49 exhibited chromosome segregation errors in 30% of cell d

Hand Mobility in Scleroderma (HAMIS) test: the reliability of a novel hand function test.

Objective Hand Mobility in Scleroderma (HAMIS) is a new hand function test developed for adults who have systemic sclerosis. HAMIS consists of 9 items designed to measure all movements assessed in an ordinary range of motion (ROM)-measured hand test. The aim of this study was to examine the reliability of the test. Methods Two observers (one occupational therapist and one physiotherapist) perform

Hormone replacement therapy in healthy postmenopausal women: a randomized, placebo-controlled study of effects on coagulation and fibrinolytic factors

OBJECTIVES: To evaluate effects of postmenopausal hormone replacement therapy (HRT) on von Willebrand factor, factor (F)VIII, factor (F)VII, fibrinogen, antithrombin (AT) III, prothrombin fragments 1 and 2, protein C, total and free protein S, plasminogen activator inhibitor-1 (PAI-1), tissue plasminogen activator (tPA) and resistance to activated protein C. DESIGN: Part 1: double blind randomized

Reduced postural differences between phobic postural vertigo patients and healthy subjects during a postural threat.

Phobic postural vertigo is characterized by subjective imbalance and dizziness while standing or walking, despite normal values for clinical balance tests. Patients with phobic postural vertigo exhibit an increased high-frequency sway in posturographic tests. Their postural sway, however, becomes similar to the sway of healthy subjects during difficult balance tasks. Posturographic recordings of 3

Characteristics and Quality of Life of Patients Who Choose Home Care at the End of Life.

Cancer patients with advanced disease and short-survival expectancy were given hospital-based advanced home care (AHC) or conventional care (CC), according to their preference. The two groups were compared at baseline to investigate whether there were differences between the AHC and the CC patients that may help explain their choice of care. The patients were consecutively recruited over 2(1/2) ye

Civic duty, Stasi society or Petty revenge: citizen reporting on tax cheating neighbors in Sweden and Denmark

Both Sweden and Denmark have experienced an increase in the number of people informing the social and tax authorities that their neighbors are cheating on social benefits or earning illegal incomes through ‘black work’ (‘angiveri’ om social bedrageri eller sort arbejde). At the same time, many municipalities and the social and tax authorities have established hot lines or web portals where citizen

On Becoming a “Distinguished” Scientist. Careers, Individuality and Collectivity in Postdoctoral Researchers’ Accounts on Living and Working in the Life Sciences.

The last decade has seen significant shifts in the framework conditions of living and working in the academic life sciences, such as changing funding structures, increasing project-type character of scientific work and the integration of multiple quality assessment mechanisms into structures of scientific knowledge production. Alongside these changes there have also been significant transformation

Estimated storage of amorphous silica in soils of the circum-Arctic tundra region

We investigated the vertical distribution, storage, landscape partitioning, and spatial variability of soil amorphous silica (ASi) at four different sites underlain by continuous permafrost and representative of mountainous and lowland tundra, in the circum-Arctic region. Based on a larger set of data, we present the first estimate of the ASi soil reservoir (0-1 m depth) in circum-Arctic tundra te