Variably protease-sensitive prionopathy with methionine homozygosity at codon 129 in the prion protein gene.

Variably protease-sensitive prionopathy (VPSPr) is a recently characterised rare subtype of sporadic prion disease, mainly affecting individuals with valine homozygosity at codon 129 in the prion protein gene, with only seven methionine homozygote cases reported to date. This case presents clinical, neuropathological and biochemical features of the eighth VPSPr case worldwide with methionine homozygosity at codon 129 and compares the features with the formerly presented cases.The patient, a woman in her 70s, presented with cognitive decline, impaired balance and frequent falls.

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Introduction Christmas-themed scientific articles are becoming increasingly popular and may represent a shortcut to scientific demise due to their demand for time better spent on "serious" research. We aimed to investigate whether authorship on Christmas-themed medical articles could damage the scientific careers of authors. We hypothesized that Christmas-authorships had a negative impact on core bibliometric outcomes such as publication rates.

Extension of Methane Emission Rate Distribution for Permian Basin Oil and Gas Production Infrastructure by Aerial LiDAR.

Aerial LiDAR measurements at 7474 oil and gas production facilities in the Permian Basin yield a measured methane emission rate distribution extending to the detection sensitivity of the method, 2 kg/h at 90% probability of detection (POD). Emissions are found at 38.3% of facilities scanned, a significantly higher proportion than reported in lower-sensitivity campaigns.

Endo-lysosomal protein concentrations in CSF from patients with frontotemporal dementia caused by mutation.

Introduction: Increasing evidence implicates proteostatic dysfunction as an early event in the development of frontotemporal dementia (FTD). This study aimed to explore potential cerebrospinal fluid (CSF) biomarkers associated with the proteolytic systems in genetic FTD caused by mutation.

Methods: Combining solid-phase extraction and parallel reaction monitoring mass spectrometry, a panel of 47 peptides derived from 20 proteins was analyzed in CSF from 31 members of the Danish -FTD family.

[Christmas article: Copenhagen Christmas Cognitive Examination].

Introduction Motivation is important when administering cognitive tests. Routine cognitive testing may become trivial both for the examiner and the test subject when using tests that only incorporate neutral items. We hypothesized that a Christmas themed cognitive test could improve motivation for cognitive testing and might elicit positive emotional reactions.

Possible Tacrolimus-Related Neuropsychiatric Symptoms: One Year After Allogeneic Hematopoietic Cell Transplantation: A Case Report.

Tacrolimus is a calcineurin inhibitor (CNI), an immunosuppressive agent used to prevent graft versus host disease following allogeneic hematopoietic cell transplantation (HCT). Side-effects of tacrolimus treatment include neuropsychiatric symptoms, for example, affective disturbances, psychosis, and akinetic mutism. The onset of side-effects is independent of tacrolimus blood concentration and can occur years after treatment initiation.

Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival.

Objectives: Chromosome 3-linked frontotemporal dementia (FTD-3) is caused by a c.532-1G > C mutation in the CHMP2B gene. It is extensively studied in a Danish family comprising one of the largest families with an autosomal dominantly inherited frontotemporal dementia (FTD).

Cortical Frontoparietal Network Dysfunction in -Frontotemporal Dementia.

A rare cause of inherited frontotemporal dementia (FTD) is a mutation in the gene on chromosome 3 leading to the autosomal dominantly inherited FTD (-FTD). Since -FTD is clinically well-characterized, and patients show a distinct pattern of executive dysfunction, the condition offers possible insight in the early electroencephalographic (EEG) changes in the cortical networks. Specifically, EEG microstate analysis parses the EEG signals into topographies believed to represent discrete network activations.

Serum Neurofilament Light in Patients with Frontotemporal Dementia Caused by CHMP2B Mutation.

Introduction: The potential of neurofilament light (NfL) as a blood-based biomarker is currently being investigated in autosomal dominant neurodegenerative disease. This study explores the clinical utility of serum-NfL in frontotemporal dementia due to CHMP2B mutation (FTD-3).

Methods: This cross-sectional study included serum and CSF data from 38 members of the Danish FTD-3 family: 12 affected CHMP2B mutation carriers, 10 presymptomatic carriers, and 16 noncarriers.

Cerebrospinal fluid oxidative stress metabolites in patients with bipolar disorder and healthy controls: a longitudinal case-control study.

Bipolar disorder (BD) is a mental disorder characterized by recurrent relapses of affective episodes, cognitive impairment, illness progression, and reduced life expectancy. Increased systemic oxidatively generated nucleoside damage have been found in some neurodegenerative disorders and in BD. As the first, this naturalistic prospective, longitudinal follow-up case-control study investigated cerebrospinal fluid (CSF) oxidative stress markers 8-oxo-7,8-dihydroguanosine (8-oxoGuo) and 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxodG) that relate to RNA and DNA damage, respectively.

Geographical Variation in the Diagnostic Rate and Quality of Dementia Diagnoses.

Background: Early and accurate diagnosis of dementia opens the door to appropriate treatment, support, and counseling. Despite availability of evidence-based guidelines for diagnostic evaluation of dementia, the diagnostic rate in people with dementia is low and the quality of dementia diagnoses is unknown.

Objective: The overall aim of this register-based study was to analyze the quality of diagnostic evaluation of dementia by assessing nationwide geographical variations in a range of indicators.

Inflammatory markers of CHMP2B-mediated frontotemporal dementia.

Histopathological studies and animal models have suggested an inflammatory component in the pathomechanism of the CHMP2B associated frontotemporal dementia (FTD-3). In this cross-sectional study, serum and cerebrospinal fluid were analyzed for inflammatory markers in CHMP2B mutation carriers. Serum levels of CCL4 were increased throughout life.

CSF neurofilament light concentration is increased in presymptomatic mutation carriers.

Objective: A rare cause of familial frontotemporal dementia (FTD) is a mutation in the gene on chromosome 3 (FTD-3), described in a Danish family. Here we examine whether CSF biomarkers change in the preclinical phase of the disease.

Methods: In this cross-sectional explorative study, we analyzed CSF samples from 16 mutation carriers and 14 noncarriers from the Danish FTD-3 family.

TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3).

Single-nucleotide polymorphisms in the TMEM106B gene have been identified as a risk factor in frontotemporal dementia (FTD). The major allele of SNP rs3173615 is a risk factor in sporadic FTD, whereas the minor allele seems protective in GRN- and C9orf72-mediated FTD. The role of apolipoprotein E (ApoE) in FTD is uncertain, though an established risk factor in Alzheimer's disease.

SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy.

The spinocerebellar ataxias (SCA) are a group of rare inherited neurodegenerative diseases characterized by slowly progressive cerebellar ataxia, resulting in unsteady gait, clumsiness, and dysarthria. The disorders are predominantly inherited in an autosomal dominant manner. Mutations in the gene AFG3L2 that encodes a subunit of the mitochondrial m-AAA protease have previously been shown to cause spinocerebellar ataxia type 28 (SCA28).

Extrahepatic metabolism at the body's internal-external interfaces.

In general, xenobiotic metabolizing enzymes (XMEs) are expressed in lower levels in the extrahepatic tissues than in the liver, making the former less relevant for the clearance of xenobiotics. Local metabolism, however, may lead to tissue-specific adverse responses, e.g.

A multi-parametric microarray for protein profiling: simultaneous analysis of 8 different cytochromes via differentially element tagged antibodies and laser ablation ICP-MS.

The paper presents a new multi-parametric protein microarray embracing the multi-analyte capabilities of laser ablation inductively coupled plasma mass spectrometry (LA-ICP-MS). The combination of high throughput reverse phase protein microarrays with element tagged antibodies and LA-ICP-MS makes it possible to detect and quantify many proteins or biomarkers in multiple samples simultaneously. A proof of concept experiment is performed for the analysis of cytochromes particularly of cytochrome P450 enzymes, which play an important role in the metabolism of xenobiotics such as toxicants and drugs.

Characterization of an actively linearized ultrabroadband chirped laser with a fiber-laser optical frequency comb.

The optical frequency sweep of an actively linearized, ultrabroadband, chirped laser source is characterized through optical heterodyne detection against a fiber-laser frequency comb. Frequency sweeps were measured over approximately 5 THz bandwidths from 1530 nm to 1570 nm. The dominant deviation from linearity resulted from the nonzero dispersion of the fiber delay used as a reference for the sweep linearization.

Single and concerted effects of benzo[a]pyrene and flavonoids on the AhR and Nrf2-pathway in the human colon carcinoma cell line Caco-2.

As phytochemicals have the potential to counteract adverse effects of carcinogens we investigated the influence of the flavonoids quercetin and kaempferol on benzo[a]pyrene (BaP) mediated effects on human colon cancer cells, Caco-2. We focused on concerted effects on the expression of AhR and Nrf2 pathway components. In contrast to kaempferol, BaP and quercetin efficiently induced CYP1A1, CYP1A2 and CYP1B1-mRNA in Caco-2 cells.

Methods for the discovery of low-abundance biomarkers for urinary bladder cancer in biological fluids.

For the study of bladder cancer and the identification of respective tumor markers, blood and, in particular, urine constitute suitable sources of biological material, while both harboring their specific challenges for analytics concerning low-abundance biomarkers. Dissolved proteins and nucleic acids as well as cells and cell-bound molecules can be the analytes. In urine, exfoliated bladder tumor cells have to be identified and in blood, circulating tumor cells have to be detected among huge amounts of other cells.

Conditions for highly efficient anti-Stokes conversion in gas-filled hollow core waveguides.

Using a four-mode theoretical analysis we show that highly efficient anti-Stokes conversion in waveguides is more challenging to realize in practice than previously thought. By including the dynamics of conversion to 2(nd) Stokes via stimulated Raman scattering and four-wave mixing, models predict only narrow, unstable regions of highly efficient anti-Stokes conversion. Experimental results of single-pass Raman conversion in confined capillary waveguides validate these predictions.

Accuracy of active chirp linearization for broadband frequency modulated continuous wave ladar.

As the bandwidth and linearity of frequency modulated continuous wave chirp ladar increase, the resulting range resolution, precisions, and accuracy are improved correspondingly. An analysis of a very broadband (several THz) and linear (<1 ppm) chirped ladar system based on active chirp linearization is presented. Residual chirp nonlinearity and material dispersion are analyzed as to their effect on the dynamic range, precision, and accuracy of the system.

Ultrabroadband optical chirp linearization for precision metrology applications.

We demonstrate precise linearization of ultrabroadband laser frequency chirps via a fiber-based self-heterodyne technique to enable extremely high-resolution, frequency-modulated cw laser-radar (LADAR) and a wide range of other metrology applications. Our frequency chirps cover bandwidths up to nearly 5 THz with frequency errors as low as 170 kHz, relative to linearity. We show that this performance enables 31-mum transform-limited LADAR range resolution (FWHM) and 86 nm range precisions over a 1.