1,877 results match your criteria: "Sergievsky Center[Affiliation]"

Background: There is a paucity of evidence on the association between genetic propensity for hippocampal atrophy with cognitive outcomes. Therefore, we examined the relationship of the polygenic risk score for hippocampal atrophy (PRShp) with the incidence of amnestic mild cognitive impairment (aMCI) and Alzheimer's disease (AD) as well as the rates of cognitive decline.

Methods: Participants were drawn from the population-based HELIAD cohort.

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Background: Despite efforts to promote optimal breastfeeding practices, the practice of exclusive breastfeeding is low in South Africa. We conducted a trial to determine whether text messaging plus motivational interviewing prolonged exclusive breastfeeding during the first six months of life and improved child health outcomes.

Methods: We conducted a randomized parallel group-controlled trial between July 2022 and May 2024, at a secondary-level healthcare facility.

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Objective: Sleep disturbance is considered a risk factor for cognitive decline in elderly individuals. Our aim in the current study was to investigate whether baseline sleep parameters can predict the conversion from normal cognition to mild cognitive impairment or dementia at follow-up. The Hellenic Longitudinal Investigation of Aging and Diet is a longitudinal population-based study designed to estimate the prevalence and incidence of cognitive decline and dementia in the older Greek population.

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Inflammatory biomarkers profiles and cognition among older adults.

Sci Rep

January 2025

Taub Institute for Research On Alzheimer's Disease and the Aging Brain, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, 10032, USA.

Inflammation plays a major role in cognitive aging. Most studies on peripheral inflammation and cognitive aging focused on selected major inflammatory biomarkers. However, inflammatory markers are regulated and influenced by each other, and it is therefore important to consider a more comprehensive panel of markers to better capture diverse immune pathways and characterize the overall inflammatory profile of individuals.

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Introduction: Alzheimer's disease (AD) in Down syndrome (DS) is associated with changes in brain structure. It is unknown if thickness and volumetric changes can identify AD stages and if they are similar to other genetic forms of AD.

Methods: Magnetic resonance imaging scans were collected for 178 DS adults (106 nonclinical, 45 preclinical, and 27 symptomatic).

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Background: Impaired intrauterine growth, a significant global health problem, contributes to a higher burden of infant morbidity and mortality, mainly in resource-poor settings. Maternal anemia and undernutrition, two important causes of impaired intrauterine growth, are prioritized by global nutrition targets of 2030. We synthesized the evidence on the role of preconception nutrition supplements in reducing maternal anemia and improving intrauterine growth.

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Genetic predisposition to high circulating levels of interleukin 6 and risk for Alzheimer's disease. Discovery and replication.

J Prev Alzheimers Dis

January 2025

1st Department of Neurology, Aiginition Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece; Department of Neurology, The Gertrude H. Sergievsky Center, Taub Institute for Research in Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY, USA. Electronic address:

Importance: Aging is accompanied by immune dysregulation, which has been implicated in Alzheimer's disease (AD) pathogenesis. Individuals who are genetically predisposed to elevated levels of proinflammatory mediators might be at increased risk for AD.

Objective: To investigate whether genetic propensity for higher circulating levels of interleukin 6 (IL-6) is associated with AD risk.

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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

Am J Hum Genet

January 2025

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany. Electronic address:

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.

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Despite the high progress that has been made in the field of cardiology, the left ventricular assist device (LVAD) can still cause complications (thrombosis/bleeding) in heart failure (HF) patients after implantation. Complications develop due to the incorrect dose of antithrombotic therapy, due to the influence of the non-physiological shear stress of the device, and also due to inherited genetic polymorphisms. Therefore, the aim of our study is to identify the influence of the genetic polymorphisms on complication development in HF patients with implanted LVADs with prescribed antiplatelet therapy.

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Neurodegenerative tauopathies are characterized by the deposition of distinct fibrillar tau assemblies, whose rigid core structures correlate with defined neuropathological phenotypes. Essential tremor (ET) is a progressive neurological disorder that, in some cases, is associated with cognitive impairment and tau accumulation. In this study, we explored tau assembly conformation in ET patients with tau pathology using cytometry-based tau biosensor assays.

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Introduction: The (IDEAL) Study is a randomized clinical trial investigating the psychosocial, behavioral, and cognitive impacts of apolipoprotein E () genotype disclosure for late-onset Alzheimer's disease (AD) among Latinos.

Methods: We used address-based sampling to recruit English- and Spanish-speaking Latinos aged 40-64 living in northern Manhattan for a community-based Baseline Survey about their knowledge and opinions about AD. Participants eligible for the clinical trial were invited to complete an Introductory Session, including AD and genetics education and informed consent, before undergoing genotyping for .

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Plasma phospho-tau217 as a predictive biomarker for Alzheimer's disease in a large south American cohort.

Alzheimers Res Ther

January 2025

Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY, 10032, USA.

Article Synopsis
  • Blood-based biomarkers like p-tau217 are being studied for their effectiveness in diagnosing Alzheimer's disease (AD), but previous research has mainly focused on non-Hispanic White populations, leading to a knowledge gap across different ethnic backgrounds.
  • A new study involving Peruvians, including mestizos and indigenous groups, examined plasma p-tau217 in 525 individuals, revealing significant associations between the biomarker and AD, especially in those with the APOE-e4 allele, although it did not distinguish between healthy controls and mild cognitive impairment (MCI).
  • The results indicated that p-tau217 levels correlated well with cognitive performance and had an impressive classification performance (ROC-AUC of 82.82%), marking a significant contribution to understanding AD in diverse
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Alzheimer's disease (AD) is a debilitating neurodegenerative illness that has become a growing concern for older adults. As such, apolipoprotein E (APOE) genetic testing has become more commonly used to identify individuals' susceptibility to AD. An underrepresented population in AD research, Latinos will be disproportionately affected by AD in the coming decades.

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Introduction: Adjustable lifestyle factors, such as diet, are associated with cognitive functions, structural and functional brain measures, but the association between the functional connectivity (FC) and the Mediterranean Diet (Medicine) in population without dementia is yet to be explored.

Methods: The association between MeDi and brain FC in 105 individuals without dementia aged 63 (SD ± 8.72) years old who underwent brain MRI including resting-state (rs) functional MRI (fMRI) was examined.

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Network-based amyloid-β pathology predicts subsequent cognitive decline in cognitively normal older adults.

bioRxiv

December 2024

Cognitive Neuroscience Division, Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

The deposition of amyloid-β (Aβ) protein in the human brain is a hallmark of Alzheimer's disease and is related to cognitive decline. However, the relationship between early Aβ deposition and future cognitive impairment remains poorly understood, particularly concerning its spatial distribution and network-level effects. Here, we employed a cross-validated machine learning approach and investigated whether integrating subject-specific brain connectome information with Aβ burden measures improves predictive validity for subsequent cognitive decline.

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THBS1 is a new autosomal recessive non-syndromic hearing impairment gene.

BMC Med Genomics

December 2024

Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, New York, NY, USA.

Background: Prelingual hearing impairment (HI) is genetically highly heterogenous. Early diagnosis and intervention are essential for psychosocial development. In this study we investigated a consanguineous family from Pakistan with autosomal recessive (AR) non-syndromic sensorineural HI (NSHI).

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Early life exposure to structural sexism and late-life memory trajectories among black and white women and men in the United States.

Alzheimers Dement

December 2024

Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, New York, USA.

Introduction: We investigated whether early life exposure to state-level structural sexism influenced late-life memory trajectories among United Staes (U.S.) -born women and men and determined whether associations differed between racialized groups.

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The Alzheimer's Disease Sequencing Project (ADSP) is a national initiative to understand the genetic architecture of Alzheimer's Disease and Related Dementias (AD/ADRD) by sequencing whole genomes of affected participants and age-matched cognitive controls from diverse populations. The Genome Center for Alzheimer's Disease (GCAD) processed whole-genome sequencing data from 36,361 ADSP participants, including 35,014 genetically unique participants of which 45% are from non-European ancestry, across 17 cohorts in 14 countries in this fourth release (R4). This sequencing effort identified 387 million bi-allelic variants, 42 million short insertions/deletions, and 2.

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GWAS highlights the neuronal contribution to multiple sclerosis susceptibility.

medRxiv

December 2024

Center for Translational and Computational Neuroimmunology & Columbia Multiple Sclerosis Center, Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.

Multiple Sclerosis (MS) is a chronic inflammatory and neurodegenerative disease affecting the brain and spinal cord. Genetic studies have identified many risk loci, that were thought to primarily impact immune cells and microglia. Here, we performed a multi-ancestry genome-wide association study with 20,831 MS and 729,220 control participants, identifying 236 susceptibility variants outside the Major Histocompatibility Complex, including four novel loci.

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Article Synopsis
  • Mild cognitive impairment and early-stage dementia are often underdiagnosed, leading to increased healthcare costs; this study aims to address this gap by using patient-nurse conversations recorded in home healthcare settings to develop an AI tool for early detection of cognitive decline.
  • The research involved analyzing audio from conversations of 47 patients, identifying key linguistic features related to cognitive decline, and comparing the effectiveness of a speech processing algorithm to traditional electronic health record data.
  • Results showed that the combined approach of using verbal communication and EHR data significantly outperformed either method alone, highlighting that certain speech patterns can predict cognitive decline, thus potentially improving patient care and reducing emergency healthcare visits.
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Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.

HGG Adv

January 2025

Division of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa; McKusick-Nathans Institute, and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA. Electronic address:

Article Synopsis
  • *This study focused on the genetic causes of HI in the Malian population through whole exome sequencing, uncovering variants in multiple known HI genes and identifying a novel candidate gene, UBFD1.
  • *Results showed that 75% of the examined families had identifiable causes for HI, with many variants being newly identified and a case of digenic inheritance observed.
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Objectives: As artificial intelligence evolves, integrating speech processing into home healthcare (HHC) workflows is increasingly feasible. Audio-recorded communications enhance risk identification models, with automatic speech recognition (ASR) systems as a key component. This study evaluates the transcription accuracy and equity of 4 ASR systems-Amazon Web Services (AWS) General, AWS Medical, Whisper, and Wave2Vec-in transcribing patient-nurse communication in US HHC, focusing on their ability in accurate transcription of speech from Black and White English-speaking patients.

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X-chromosome-wide association study for Alzheimer's disease.

Mol Psychiatry

December 2024

Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, LabEx DISTALZ - U1167-RID-AGE Facteurs de Risque et Déterminants Moléculaires des Maladies Liées au Vieillissement, Lille, France.

Article Synopsis
  • A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
  • The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
  • While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
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