A digital ion trap (DIT) mass spectrometer was developed to extend the mass range in comparison to conventional ion traps. This was achieved by changing the RF voltage from a sinusoidal to a rectangular waveform. In addition to the extended mass range, the size of the instrument was miniaturized.
View Article and Find Full Text PDFThe Woven EndoBridge (WEB) is an intra-aneurysmal flow disruptor designed for the treatment of broad-based arterial aneurysms with a high safety and effectiveness profile. It does not require concomitant antiplatelet therapy compared to other devices such as flow diverters or intracranial stents. Innominate artery pseudoaneurysms are a rare consequence of blunt traumatic injury, infection, or atherosclerotic disease.
View Article and Find Full Text PDFBackground And Objectives: variants are a frequent cause of familial frontotemporal dementia (FTD). Monitoring disease progression in asymptomatic carriers of genetic variants is a major challenge in delivering preventative therapies before clinical onset. This study aimed to assess the usefulness of fluorodeoxyglucose (FDG)-PET in identifying metabolic changes in presymptomatic carriers (PS-+) and to trace their longitudinal progression.
View Article and Find Full Text PDFObjective: To determine relative frequencies and linguistic profiles of primary progressive aphasia (PPA) variants associated with (progranulin) mutations and to study their neuroanatomic correlates.
Methods: Patients with PPA carrying mutations (PPA-) were selected among a national prospective research cohort of 1,696 patients with frontotemporal dementia, including 235 patients with PPA. All patients with amyloid-positive CSF biomarkers were excluded.
Introduction: Alzheimer's disease (AD) cerebrospinal fluid (CSF) biomarkers are promising tools to help identify the underlying pathology of neurocognitive disorders. In this manuscript, we report our experience with AD CSF biomarkers in 262 consecutive patients in a tertiary care memory clinic.
Methods: We retrospectively reviewed 262 consecutive patients who underwent lumbar puncture (LP) and CSF measurement of AD biomarkers (Aβ1-42, total tau or t-tau, and p-tau181).
Objective: We aimed to validate the (DCQ; www.dcqtest.org), a new cognitive screening tool for atypical degenerative syndromes, in the oldest old.
View Article and Find Full Text PDFIntroduction: It is well known that some patients with Alz-heimer's disease (AD) have atypical, nonamnestic presentations. While logopenic aphasia and posterior cortical atrophy are well-characterized atypical variants of AD, the behavioral/dysexecutive variant remains a controversial entity, lacking consensus regarding its distinctive clinical and imaging features.
Methods: We present a case series of 8 patients with biomarker confirmation of AD (cerebrospinal fluid [CSF] analysis or amyloid positron emission tomography [PET]) and a progressive frontal syndrome, defined as prominent behavioral and/or executive deficits at initial presentation.
Background/aims: The logopenic variant of primary progressive aphasia (lvPPA) is characterized by impaired word-finding and sentence repetition with phonologic errors but spared motor speech and grammar and semantic knowledge. Although its language deficits have been well studied, the full spectrum of cognitive changes in the lvPPA remains to be defined. We aimed to explore the neurocognitive profile of the lvPPA using a newly developed cognitive screening tool for atypical dementias, the Dépistage Cognitif de Québec (DCQ).
View Article and Find Full Text PDFRecent advances in the genetics of neurodegenerative diseases have substantially improved our knowledge about the genetic causes of frontotemporal lobar degeneration (FTLD). Three major genes, namely progranulin (GRN), C9orf72 and MAPT, as well as several less common genes, are responsible for the majority of familial cases and for a significant proportion of sporadic forms, including FTLD with or without associated amyotrophic lateral sclerosis and some rarer clinical presentations. Plasma progranulin dosage and next-generation sequencing are currently available tools which allow the detection of a genetic cause in a more rapid and efficient way.
View Article and Find Full Text PDFObjective: To better characterize the neurologic and cognitive profile of patients with spinocerebellar ataxia 34 (SCA34) caused by mutations and to demonstrate the presence of ELOVL4 cellular localization and distribution abnormalities in skin-derived fibroblasts.
Methods: We investigated a 5-generation French-Canadian kindred presenting with a late-onset cerebellar ataxia and recruited age- and education-matched controls to evaluate the presence of neurocognitive impairment. Immunohistochemistry of dermal fibroblasts derived from a patient's skin biopsy was performed.
GRN mutations are frequent causes of familial frontotemporal degeneration. Although there is no clear consensual threshold, plasma progranulin levels represent an efficient biomarker for predicting GRN mutations when decreased. We evaluated plasma levels to determine whether it could also predict age at onset, clinical phenotype, or disease progression in 160 GRN carriers.
View Article and Find Full Text PDFGRN null mutations are among the main genetic causes of frontotemporal dementia through progranulin haploinsufficiency. Most missense mutations are considered not pathogenic. The p.
View Article and Find Full Text PDFBehavioral variant frontotemporal dementia (bvFTD) shares a constellation of clinical features with primary psychiatric disorders. The discovery of new FTD-related genetic mutations has brought attention to this overlap between bvFTD and psychotic disorders. The case reported here raises the question of whether C9orf72 repeat expansion may be involved in neuropsychiatric syndromes beyond the spectrum of neurodegenerative disease.
View Article and Find Full Text PDFIntroduction: Early recognition of atypical dementia remains challenging partly because of lack of cognitive screening instruments precisely tailored for this purpose.
Methods: We assessed the validity and reliability of the Dépistage Cognitif de Québec (DCQ; www.dcqtest.
Molecular imaging techniques using F-fluorodeoxyglucose, amyloid tracers, and, more recently, tau ligands have taken dementia research by storm and undoubtedly improved our understanding of neurodegenerative diseases. The ability to image in vivo the pathological substrates of degenerative diseases and visualize their downstream impact has led to improved models of pathogenesis, better differential diagnosis of atypical conditions, as well as focused subject selection and monitoring of treatment in clinical trials aimed at delaying or preventing the symptomatic phase of Alzheimer's disease. In this article, we present the main molecular imaging techniques used in research and practice.
View Article and Find Full Text PDFBackground: The overlap between frontotemporal dementia (FTD) and primary psychiatric disorders has been brought to light by reports of prominent neuropsychiatric symptoms (NPS) in FTD-related genetic mutations, particularly among C9orf72 and GRN carriers. It has been recently demonstrated that early neuroanatomical changes in genetic FTD may be different across the major disease-causing mutations.
Objective: We aimed to identify whether NPS could be driven by distinct structural correlates.
Multiple sclerosis (MS) is one of the most common neurological diseases in young people. This paper dealt with an automatic biomedical aided tool involving volumetric segmentation of multiple sclerosis lesions. To meet this challenge, our proposed methodology requires one preliminary cerebral zones segmentation performed using a new Gaussian mixture model based on various databases atlases.
View Article and Find Full Text PDFObjective: This study aimed to validate and provide normative data for the Dépistage Cognitif de Québec (DCQ; www.dcqtest.org), a new cognitive screening tool for atypical dementias.
View Article and Find Full Text PDFNon-motor symptoms (NMS) of Parkinson Disease (PD) are common and can cause severe disability. They are often under-recognized and remain untreated. Tools to evaluate these symptoms in Arabic-speaking patients are still lacking.
View Article and Find Full Text PDFThis research concerned a clinical need for precise breast cancer lesion characterization imaged by ultrasound sequences. Using therefore BI-RADS features that would be carefully extracted, the purpose of this study could be mainly to prove and to demonstrate the possibility of surveying precisely the changing characteristics of a breast cancer lesion within a considered ultrasound images' sequence. This was in fact a clinical need of a computer aided diagnosis (CAD) system permitting flexible and convivial clinical analysis of multi-slices' ultrasound breast cancer lesion with greater precision.
View Article and Find Full Text PDFMany assays are available for the detection of protein carbonyls (PCs). Currently, the measurement of PC groups after their derivatization with 2,4-dinitrophenol hydrazine (DNPH) is widely used for measuring protein oxidation in biological samples. However, this method includes several washing steps.
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