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A novel nonsense variant in RHAG underlies a Nordic Rhnull phenotype.

BACKGROUND AND OBJECTIVES: The extremely rare Rh null phenotype is characterized by the absence of all Rh antigens on erythrocytes. It is divided into the regulator and amorph types based on the underlying genetic background. The more common regulator type depends on critical variants silencing RHAG, which encodes RhAG glycoprotein, necessary for RhD/RhCE expression. Rh null cells have altered exp

Ultrasonographic fetal soft markers in a low-risk population : Prevalence, association with trisomies and invasive tests

Objective To investigate the prevalence of soft markers identified at second trimester ultrasound in a low-risk population and the association of these markers with trisomies and invasive testing. Design Prospective observational study. Setting Swedish University Hospital. Population All women with fetuses examined by ultrasound at 15+0-22+0 weeks gestation between July 2008 and March 2011. Method

Investigation of avian haemosporidian parasites from raptor birds in Turkey, with molecular characterisation and microscopic confirmation

Avian haemosporidians are common vector-borne blood parasites that have been reported in birds all over the world. Investigations of avian haemosporidian parasites are conducted mainly on passerine birds. However, studies that focus on non-passerine avian hosts are important for our understanding of the true diversity, host specificity and genetic variability among these widespread parasites. In t

Three New PAX2 Gene Mutations in Patients with Papillorenal Syndrome

Papillorenal syndrome (PAPRS; Mendelian Inheritance in Man [MIM] 120330) is an autosomal dominant disease characterised by the presence of congenital renal and optic nerve abnormalities associated with mutations of the PAX2 gene. In this article, the authors present four patients with PAPRS who are carriers of three new PAX2 mutations, as well as another patient with a possible non-pathogenic vari

Age of enlightenment : Long-term effects of outdoor aesthetic lights on bats in churches

We surveyed 110 country churches in south-western Sweden for presence of brown long-eared bats Plecotus auritus in summer 2016 by visual inspection and/or evening emergence counts. Each church was also classified according to the presence and amount of aesthetic directional lights (flood-lights) aimed on its walls and tower from the outside. Sixty-one of the churches had previously been surveyed b

Choral singing under the microscope : Identifying vocal leaders through comparison of individual recordings of the singers

Singing in groups and choirs is one of the main and generally most widespread musical activities: in schools at all levels among children and adolescents as well as in leisure time activities from "non-singer choirs" to more advanced and professional choirs. Previous studies indicate the need to identify vocal collaboration between choral singers. This article investigates how individuals in a cho

Epidemiology of primary systemic vasculitis in children : a population-based study from southern Sweden

Objectives: To estimate the annual incidence rate of paediatric primary systemic vasculitis (PSV) in a defined geographical area in southern Sweden. Methods: Potential cases of PSV [IgA vasculitis (IgAV, Henoch–Schönlein purpura), Kawasaki disease (KD), granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA), eosinophilic granulomatosis with polyangiitis (EGPA), polyarteritis nodosa

High circulating levels of midregional proenkephalin A predict vascular dementia : a population-based prospective study

Midregional Pro-enkephalin A (MR-PENK A) and N-terminal Protachykinin A (NT-PTA) have been associated with vascular dementia. However, the longitudinal relationship between these biomarkers and incident dementia has not been fully investigated. In the population-based Malmö Preventive Project, circulating levels of MR-PENK A and NT-PTA were determined in a random sample of 5,323 study participants

Thrombomodulin as a Marker for Bleeding Complications During Warfarin Treatment

Background: The major adverse effect of warfarin treatment is hemorrhage. Several risk factors for bleeding complications are also risk factors for thromboembolic events, making the clinical decision to initiate or withhold anticoagulant treatment difficult. Specific markers that solely identify patients at high risk of bleeding would have great clinical impact. This study aimed to test if thrombo

Elevated levels and distinct patterns of expression of A-type cyclins and their associated cyclin-dependent kinases in male germ cell tumors

Aberrant expression of several key regulators controlling the G1/S phase of the cell cycle has been implicated in human male germ cell tumorigenesis. Given the critical role of cyclin A2 at both the G1/S and G2/M transitions and the essential role for cyclin A1 in male germ cell development, our present study focused on the involvement of the A-type cyclins in the transformation and progression of

The influence of collembolans and earthworms on AM fungal mycelium

Arbuscular mycorrhizal (AM) mycelia are dependent on contact with plant roots for spore formation. In this study, earthworms and collembolans were regarded as potential dispersal vectors of AM fungal spores and hyphae, and we determined how they influenced the extension of AM fungi from host plant roots. Plantago lanceolata seedlings were grown in a mesh bag with an AM inoculurn of dried soil and

Problem-based learning of research skills

Purpose: To determine whether a short-term, problem-based educational intervention leads to increased research activity among health care practitioners. Subjects and Methods: Participant's success was evaluated as a composite of 2 outcomes. These were (1) reporting results for the project designed during the practicum and (2) conducting subsequent research activities. The study population included

How often is a low 5-min Apgar score in term newborns due to asphyxia?

Objective: To evaluate how often low 5-min Apgar scores (AS(5-min)) at term are associated with asphyxia. Study design: A cohort- and case-control study, including all 183 term infants with AS(5-min) below 7 born at Lund University Hospital during 1993-2002, antepartum deaths excluded. The control group included 183 randomly selected term newborns with AS(5-min) 9-10. Cardiotocography (CTG) traces

Exposure of rat brain to 915 MHz GSM microwaves induces changes in gene expression but not double stranded DNA breaks or effects on chromatin conformation

We investigated whether exposure of rat brain to microwaves (MWs) of global system for mobile communication (GSM) induces DNA breaks, changes in chromatin conformation and in gene expression. An exposure installation was used based on a test mobile phone employing a GSM signal at 915 MHz, all standard modulations included, output power level in pulses 2 W, specific absorption rate (SAR) 0.4 mW/g.

Origin of Swedish hemophilia B mutations

Background More than 1100 mutations that cause hemophilia B (HB) have been identified. At the same time, specific F9 mutations are present at high frequencies in certain populations, which raise questions about the origin of HB mutations. ObjectivesTo describe the mutation spectrum of all HB families in Sweden and investigate if mutations appearing in several families are due to independent recurr

Acupuncture and transcutaneous nerve stimulation in stroke rehabilitation: a randomized, controlled trial

BACKGROUND AND PURPOSE: In small trials with control groups that receive no intervention, acupuncture has been reported to improve functional outcome after stroke. We studied effects of acupuncture and transcutaneous electrical nerve stimulation on functional outcome and quality of life after stroke versus a control group that received subliminal electrostimulation. METHODS: In a multicenter rando

Modified stainless steel surfaces targeted to reduce fouling - surface characterization

The surface properties of several modified stainless steel samples were characterized according to their chemical composition, roughness, topography and wettability. The modifications tested were SiF3+ and MoS22+ ion implantation; diamond-like carbon (DLC) sputtering: DLC. DLC-Si-O and SiOx, plasma enhanced chemical vapor deposition (PECVD); autocatalytic Ni-P-PTFE and silica coating. X-ray photoe

Evaluation of screening procedures for congenital cataracts

Aim: To evaluate the efficacy of two different Swedish screening procedures for early detection of congenital cataracts in comparison with no screening. Methods: Children born between January 1992 and December 1998 in Swedish regions with an established eye-screening routine procedure, diagnosed with congenital cataract, and operated on before 1 y of age, were included in a retrospective study. Ag