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Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation

Objectives: The aim of this study was to investigate genetic outcomes, analyze the family experience, and describe the process of implementing genetic sequencing for children with profound sensorineural hearing loss (SNHL) at a tertial audiological center in southern Sweden. Design: This is a prospective pilot study including eleven children with profound bilateral SNHL who underwent cochlear impl

Seroprevalence of hepatitis B virus infection and associated factors among healthcare workers in northern Tanzania

Background: Hepatitis B virus infection is a global health problem with the highest prevalence in East Asia and Sub-Saharan Africa. The majority of infected people, including healthcare workers are unaware of their status. This study is aimed to determining seroprevalence of hepatitis B virus infection and associated factors among healthcare workers in northern Tanzania. Methods: This cross-sectio

The link between diffusion MRI and tumor heterogeneity : Mapping cell eccentricity and density by diffusional variance decomposition (DIVIDE)

The structural heterogeneity of tumor tissue can be probed by diffusion MRI (dMRI) in terms of the variance of apparent diffusivities within a voxel. However, the link between the diffusional variance and the tissue heterogeneity is not well-established. To investigate this link we test the hypothesis that diffusional variance, caused by microscopic anisotropy and isotropic heterogeneity, is assoc

Will this hemodynamically unstable patient respond to a bolus of intravenous fluids?

IMPORTANCE Fluid overload occurring as a consequence of overly aggressive fluid resuscitation may adversely affect outcome in hemodynamically unstable critically ill patients. Therefore, following the initial fluid resuscitation, it is important to identify which patients will benefit from further fluid administration. OBJECTIVE To identify predictors of fluid responsiveness in hemodynamically uns

Serum-free retinal explant culture system and comparative rescue effects of LEDGF, GST, CNTF, BDNF, NGF, bFGF and antioxidants in the rd1 mouse model of retinitis pigmentosa

Retinitis pigmentosa is a group of inherited retinal degenerative diseases characterized by the loss of photoreceptors and vision for which no effective treatment is available. Several animal models of retinitis pigmentosa are used to elucidate its pathogenesis and to devise therapies. The retinal degeneration (rd1) mouse is one such animal model in which rod-specific phosphodiesterase (PDE) is in

Sex differences in neuropsychiatric symptoms in Alzheimer’s disease dementia : a meta-analysis

Background: Neuropsychiatric symptoms (NPS) are common in individuals with Alzheimer’s disease (AD) dementia, but substantial heterogeneity exists in the manifestation of NPS. Sex differences may explain this clinical variability. We aimed to investigate the sex differences in the prevalence and severity of NPS in AD dementia. Methods: Literature searches were conducted in Embase, MEDLINE/PubMed,

High-resolution postmortem 7 tesla MRI yields localized atrophy measures that are more sensitive to tau pathology and neuronal loss in Alzheimer’s disease than corresponding measures on antemortem 3 tesla MRI

BACKGROUND: Postmortem MRI has opened-up avenues to study brain structure at ultra high-resolution revealing details not possible to observe with in vivo MRI. Here, we present a novel package (purple-mri) which performs tissue segmentation, anatomical parcellation and spatial normalization of postmortem MRI. Additionally, we provide a framework to perform point-wise surface-based group-level studi

Native T1-mapping using cardiovascular magnetic resonance detects myocardium at risk during the first week following myocardial infarction in a swine model and in patients - comparison to contrast-enhanced cine steady-state free precession

Background: Myocardium at risk (MaR) can be evaluated by cardiovascular magnetic resonance (CMR) imaging using contrast-enhanced steady state free precession (CE-SSFP) in patients after ST-elevation myocardial infarction (STEMI). However, CE-SSFP utilizes gadolinium contrast, which is contraindicated in patients with severe renal insufficiency. Native T1-mapping is a non-contrast CMR method which

Molecular and seroepidemiology of SARS-CoV-2 among influenza-like illness and severe Acute respiratory illness cases in selected health facilities in Ethiopia

Background: SARS-CoV-2 remains globally circulating, yet post-pandemic comprehensive molecular, serological, and population-level immunity data from low-resource settings such as Ethiopia are limited. This study employed genomic surveillance with seroepidemiological assessment to characterize the epidemiology of SARS-CoV-2 among individuals presenting with influenza-like illness (ILI) and severe a

Total and anatomically contextualized quantitative 18F-DCFPyL PET at biochemical recurrence to predict subsequent biochemical progression-free survival in patients with prostate cancer.

33Background: PSMA PET has been shown to detect more metastasis and alter management at biochemical recurrence (BCR), but it remains to be determined that it changes oncologic outcome. We assessed the quantitative parameters on 18F-DCFPyL PET at BCR and evaluated their association with tumor volume, metastatic locations with the subsequent biochemical progression free survival (bPFS). Methods: Thi

Breast cancer incidence, by stage at diagnosis, and mortality in 21 European countries in the era of mammography screening: an international population-based study

Background: Mammography screening programmes have been widely implemented across European countries over the past 40 years with the main aim to detect breast cancer earlier and thereby reduce breast cancer mortality. This study aimed to analyse and compare changes over time in breast cancer incidence, by stage at diagnosis, and breast cancer mortality across countries in relation to the timing of

Dual energy CT and deep learning for an automated volumetric segmentation of the major intracranial tissues : Feasibility and initial findings

Background: Magnetic resonance imaging (MRI) has traditionally been preferred over computed tomography (CT) for segmentation of intracranial structures due to its superior low contrast resolution. However, a reliable CT-based segmentation could improve patient management when MRI is not practical. Despite advancements in CT imaging, such as enhanced tissue differentiation using virtual monoenerget

Prenatal exposure to per- and polyfluoroalkyl substances (PFAS) and incidence of asthma and wheeze in childhood : A register-based cohort study in Ronneby, Sweden

BACKGROUND: Early-life exposure to per- and polyfluoroalkyl substances (PFAS) may impact the developing lungs and immune system and increase the risk of childhood asthma, but no studies have been conducted in a high-exposed population. The objective of this study was to estimate associations between prenatal PFAS exposure and childhood incidence of asthma and wheeze in Blekinge County, Sweden, whe

On the mechanisms that limit oxygen uptake during exercise in acute and chronic hypoxia: role of muscle mass

Peak aerobic power in humans ((V) over dot(O2), peak) is markedly affected by inspired O-2 tension (F-IO2). The question to be answered in this study is what factor plays a major role in the limitation of muscle peak. (V) over dot(O2) in hypoxia: arterial O-2 partial pressure (P-a,(O2)) or O-2 content (C-a,C-O2)? Thus, cardiac output (dye dilution with Cardio-green), leg blood flow (thermodilution

Alpha-1-microglobulin, heme-binding protein, reductase and antioxidant

Popular Abstract in Swedish Alla levande organismer består av celler som tillsammans med molekyler generellt kallade extracellulär matrix bildar en vävnad. Celler innehåller fyra huvudgrupper av byggstenar: socker, fettsyror, aminosyror och nukleotider, vilka i tur och ordning bildar kolhydrater, fetter, proteiner och nukleinsyror. I vävnaderna pågår en ständig omsättning av byggstenarna och molek

Fetal middle cerebral to uterine artery pulsatility index ratios in normal and pre-eclamptic pregnancies

Objectives To calculate the normal range for the fetal middle cerebral artery (MCA)/uterine artery pulsatility index (PI) ratio in the third trimester of pregnancy and to assess its value, compared with that of the MCA/umbilical artery PI ratio, in predicting an unfavorable outcome of pregnancies complicated by pre-eclampsia. Methods Doppler blood flow velocimetry of the uterine and umbilical arte

Cardiac output and cardiac index measured with cardiovascular magnetic resonance in healthy subjects, elite athletes and patients with congestive heart failure

Background: Cardiovascular Magnetic Resonance (CMR) enables non-invasive quantification of cardiac output (CO) and thereby cardiac index (CI, CO indexed to body surface area). The aim of this study was to establish if CI decreases with age and compare the values to CI for athletes and for patients with congestive heart failure (CHF). Methods: CI was measured in 144 healthy volunteers (39 +/- 16 ye

Better constraints on sources of carbonaceous aerosols using a combined C-14 - macro tracer analysis in a European rural background site

The source contributions to carbonaceous PM2.5 aerosol were investigated at a European background site at the edge of the Po Valley, in Northern Italy, during the period January-December 2007. Carbonaceous aerosol was described as the sum of 8 source components: primary (1) and secondary (2) biomass burning organic carbon, biomass burning elemental carbon (3), primary (4) and secondary (5) fossil