Background: Alzheimer disease (AD) related cognitive decline occurs at relatively young ages in individuals with Down syndrome (DS, early‐mid 50s) and in those with autosomal dominant mutations (ADAD, 40‐50s). Both groups show similar patterns of amyloid accumulation. We examined if brain volumes are similarly affected by AD pathology in individuals with DS and ADAD.
View Article and Find Full Text PDFBackground: Accurate taxonomic classification in genome databases is essential for reliable biological research and effective data sharing. Mislabeling or inaccuracies in genome annotations can lead to incorrect scientific conclusions and hinder the reproducibility of research findings. Despite advances in genome analysis techniques, challenges persist in ensuring precise and reliable taxonomic assignments.
View Article and Find Full Text PDFDisease-modifying therapies for Alzheimer's disease (AD) are likely to be most beneficial when initiated in the presymptomatic phase. To track the benefit of such interventions, fluid biomarkers are of great importance, with neurofilament light chain protein (NfL) showing promise for monitoring neurodegeneration and predicting cognitive outcomes. Here, we update and complement previous findings from the Dominantly Inherited Alzheimer Network Observational Study by using matched cross-sectional and longitudinal cerebrospinal fluid (CSF) and plasma samples from 567 individuals, allowing timely comparative analyses of CSF and blood trajectories across the entire disease spectrum.
View Article and Find Full Text PDFThis manuscript describes and summarizes the Dominantly Inherited Alzheimer Network Observational Study (DIAN Obs), highlighting the wealth of longitudinal data, samples, and results from this human cohort study of brain aging and a rare monogenic form of Alzheimer's disease (AD). DIAN Obs is an international collaborative longitudinal study initiated in 2008 with support from the National Institute on Aging (NIA), designed to obtain comprehensive and uniform data on brain biology and function in individuals at risk for autosomal dominant AD (ADAD). ADAD gene mutations in the amyloid protein precursor (), presenilin 1 (), or presenilin 2 () genes are deterministic causes of ADAD, with virtually full penetrance, and a predictable age at symptomatic onset.
View Article and Find Full Text PDFMicrobiol Resour Announc
August 2024
is a plant pathogen and a mesophilic microaerophile. Here, we report the metagenome-assembled genome (MAG) sequence of binned from hindgut contents of the wild-type male , a grasshopper species. The MAG sequence comprises 1,059,205 bp in 91 contigs with a 26.
View Article and Find Full Text PDFBackground: Kimono is being reevaluated for its sustainability aspects, such as having fewer offcuts in the production process due to its structural differences from Western-style clothes and its high reusability due to the adaptability to individuals' body shapes. On the other hand, once a common attire for daily wear in Japan, kimono has transitioned to being worn only on special events and the kimono-related industry has also shrunk. To stimulate demand for kimono, it is essential to familiarize younger generations with its potential as daily wear.
View Article and Find Full Text PDFThis study aimed to compare tumor lesion detectability and diagnostic accuracy of whole-body magnetic resonance imaging (WB-MRI) and radioiodine-labeled meta-iodo-benzylguanidine (mIBG) imaging techniques in patients with metastatic pheochromocytoma and paraganglioma (PPGL). This retrospective study included 13 patients had pheochromocytoma and 5 had paraganglioma, who were all suspected of having metastatic tumors. Each patient underwent WB-MRI and I-mIBG as a pretreatment screening for I-mIBG therapy.
View Article and Find Full Text PDFBackground And Purpose: The ability of [I]metaiodobenzylguanidine (MIBG) sympathetic nerve imaging with three-dimensional (3D) quantitation to clinically diagnose neurological disorders has not been evaluated. This study compared absolute heart counts calculated as mean standardized uptake values (SUV) using conventional planar imaging and assessed the contribution of [I]MIBG single-photon emission computed tomography (SPECT)-CT to the diagnosis of neurological diseases.
Methods: Seventy-two patients with neurological diseases were consecutively assessed using early and delayed [I]MIBG SPECT-CT and planar imaging.
Syphilis infections discovered late in pregnancy, as in this case, may not be treated long enough for delivery. The Japanese guidelines should be revised because they do not describe the mode of delivery for pregnant women infected with syphilis.
View Article and Find Full Text PDFMyalgia is a common symptom of infection in humans. Autopsies have reported that muscle tissue shows degeneration and necrosis of the myofibers and infiltration of inflammatory cells composed mainly of macrophages and lymphocytes. It remains unclear whether directly infects the muscle and how the infiltrating inflammatory cells are involved in muscle fiber destruction.
View Article and Find Full Text PDFTriggering receptor expressed on myeloid cells 2 (TREM2) plays a critical role in microglial activation, survival, and apoptosis, as well as in Alzheimer's disease (AD) pathogenesis. We previously reported the MS4A locus as a key modulator for soluble TREM2 (sTREM2) in cerebrospinal fluid (CSF). To identify additional novel genetic modifiers of sTREM2, we performed the largest genome-wide association study (GWAS) and identified four loci for CSF sTREM2 in 3,350 individuals of European ancestry.
View Article and Find Full Text PDF: A three-dimensional (3D) approach to absolute quantitation of I-metaiodobenzylguanidine (MIBG) sympathetic nerve imaging using single-photon emission tomography (SPECT) / computed tomography (CT) is not available. Therefore, we calculated absolute cardiac counts and standardized uptake values (SUVs) from images of 72 consecutive patients with cardiac and neurological diseases using I-MIBG SPECT/CT and compared them with conventional planar quantitation. We aimed to develop new methods for 3D heart segmentation and the quantitation of these diseases.
View Article and Find Full Text PDFDig Endosc
June 2024
Objectives: For preoperative biliary drainage (PBD) of malignant hilar biliary obstruction (MHBO), current guidelines recommend endoscopic nasobiliary drainage (ENBD) due to the higher risk of cholangitis after endoscopic biliary stenting (EBS) during the waiting period before surgery. However, few studies have supported this finding. Therefore, we aimed to compare the outcomes of preoperative ENBD and EBS in patients with MHBO.
View Article and Find Full Text PDFImportance: Increased white matter hyperintensity (WMH) volume is a common magnetic resonance imaging (MRI) finding in both autosomal dominant Alzheimer disease (ADAD) and late-onset Alzheimer disease (LOAD), but it remains unclear whether increased WMH along the AD continuum is reflective of AD-intrinsic processes or secondary to elevated systemic vascular risk factors.
Objective: To estimate the associations of neurodegeneration and parenchymal and vessel amyloidosis with WMH accumulation and investigate whether systemic vascular risk is associated with WMH beyond these AD-intrinsic processes.
Design, Setting, And Participants: This cohort study used data from 3 longitudinal cohort studies conducted in tertiary and community-based medical centers-the Dominantly Inherited Alzheimer Network (DIAN; February 2010 to March 2020), the Alzheimer's Disease Neuroimaging Initiative (ADNI; July 2007 to September 2021), and the Harvard Aging Brain Study (HABS; September 2010 to December 2019).