Publications by authors named "E. Graff"

Early childhood caries (ECC) is the most common noncommunicable childhood disease-an important health problem with known environmental and social/behavioral influences lacking consensus genetic risk loci. To address this knowledge gap, we conducted a genome-wide association study of ECC in a multiancestry population of U.S.

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  • 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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Background: Asthma is associated with accelerated rate of FEV decline.

Objective: To determine predictive factors associated with accelerated FEV decline in adult asthma and evaluate sputum cytokines as potential biomarkers for airflow decline.

Methods: We recruited 125 asthmatics evaluated at the asthma clinic of Liège and reevaluated them at least 5 years later.

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Analysis of 27,810 patients with advanced cancers treated with anti-PD-1/L1 therapies shows that immune gene signatures or immune cell infiltration is not universally associated with mutation burden or long-term survivors after immunotherapies across cancer entities. Thus, immunological stratification of tumors has limited bearing on the immunogenicity of tumors or immunotherapy outcomes.

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Background And Objectives: Sleep dysfunction is common in patients with neurodegenerative disorders; however, its neural underpinnings remain poorly characterized in genetic frontotemporal dementia (FTD). Hypothalamic nuclei important for sleep regulation may be related to this dysfunction. Thus, we examined changes in hypothalamic structure across the lifespan in patients with genetic FTD and whether these changes related to sleep dysfunction.

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Background And Objectives: Pathogenic variants in the gene cause frontotemporal dementia (FTD-) with marked brain asymmetry. This study aims to assess whether the disease progression of FTD- depends on the initial side of the atrophy. We also investigated the potential use of brain asymmetry as a biomarker of the disease.

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Purpose: This prospective clinical cohort was undertaken to determine the long-term risks of reinfection and all-cause aseptic failure after 1-stage exchange total knee arthroplasties (TKA) in a large series of consecutive patients with periprosthetic joint infection (PJI) following TKA.

Hypothesis: One-stage exchange for chronic PJI is an effective strategy, even in a non-selected population.

Patients And Methods: Non-selected patients (152 with 154 PJI) undergoing 1-stage-exchange TKA for PJI (January 2003-August 2015) were prospectively included and monitored for ≥2 years.

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Background And Objectives: Behavioral and neuropsychiatric symptoms are frequent in patients with genetic frontotemporal dementia (FTD). We aimed to describe behavioral and neuropsychiatric phenotypes in genetic FTD, quantify their temporal association, and investigate their regional association with brain atrophy.

Methods: We analyzed data of pathogenic variant carriers in the chromosome 9 open reading frame 72 (), progranulin (), or microtubule-associated protein tau () gene from the Genetic Frontotemporal dementia Initiative cohort study that enrolls both symptomatic pathogenic variant carriers and first-degree relatives of known carriers.

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  • Genome-wide association studies have found numerous genetic loci linked to glycemic traits, but connecting these loci to specific genes and biological pathways remains a challenge.
  • Researchers conducted meta-analyses of exome-array studies across four glycemic traits, analyzing data from over 144,000 participants, which led to the identification of coding variant associations in more than 60 genes.
  • The study revealed significant pathways related to insulin secretion, zinc transport, and fatty acid metabolism, enhancing understanding of glycemic regulation and making data available for further research.
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Background And Objectives: Data on care home admission and survival rates of patients with syndromes associated with frontotemporal lobar degeneration (FTLD) are limited. However, their estimation is essential to plan trials and assess the efficacy of intervention. Population-based registers provide unique samples for this estimate.

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Hydroxylated fatty acids are important intermediates in lipid metabolism and signaling. Surprisingly, the metabolism of 4-hydroxy fatty acids remains largely unexplored. We found that both ACAD10 and ACAD11 unite two enzymatic activities to introduce these metabolites into mitochondrial and peroxisomal β-oxidation, respectively.

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Objective: Cognitive training may benefit older adults with mild cognitive impairment (MCI), but the prognostic factors are not well-established.

Methods: This study analyzed data from a 78-week trial with 107 participants with MCI, comparing computerized cognitive training (CCT) and computerized crossword puzzle training (CPT). Outcomes were changes in cognitive and functional measures from baseline.

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Background: Hormone receptor expression is a known positive prognostic and predictive factor in breast cancer; however, limited evidence exists on its prognostic impact on prognosis of young patients harboring a pathogenic variant (PV) in the BRCA1 and/or BRCA2 genes.

Patients And Methods: This international, multicenter, retrospective cohort study included young patients (aged ≤40 years) diagnosed with invasive breast cancer and harboring germline PVs in BRCA genes. We investigated the impact of hormone receptor status on clinical behavior and outcomes of breast cancer.

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Genome-wide association studies (GWAS) have identified numerous body mass index (BMI) loci. However, most underlying mechanisms from risk locus to BMI remain unknown. Leveraging omics data through integrative analyses could provide more comprehensive views of biological pathways on BMI.

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  • * A study analyzed 4,685 sporadic FTD cases and found significant genetic variants at the MAPT and APOE loci that increase the risk for the disease, indicating potential genetic overlap with other neurodegenerative diseases.
  • * The genetic risk factors appear to vary by population, with MAPT and APOE associations predominantly found in Central/Nordic and Mediterranean Europeans, suggesting a need for further research into these population-specific features for better understanding of sporadic FTD.
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  • The study investigates the genetic factors influencing levels of prostate-specific antigen (PSA), which could enhance its effectiveness for prostate cancer screening among men.
  • Researchers conducted a transcriptome-wide association study (TWAS) using data from nearly 100,000 prostate cancer-free men, identifying 173 unique genes associated with PSA levels, with 151 resembling findings in another large dataset.
  • Further analysis revealed 20 genes that influenced PSA levels independently from identified genetic variants, with several showing a potential causal relationship and the need for additional research to understand these genetic influences better.
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Introduction: People with dementia and their carers experience social stigma and often refrain from social participation. Significant improvement might be achieved by creating Dementia Friendly communities (DFCs) for which dementia friendly initiatives (DFIs) are needed. DFIs are developed by a variation of stakeholders.

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There is now increasing recognition of the important role of androgen receptor (AR) in modulating immune function. To gain a comprehensive understanding of the effects of AR activity on cancer immunity, we employed a computational approach to profile AR activity in 33 human tumor types using RNA-Seq datasets from The Cancer Genome Atlas. Our pan-cancer analysis revealed that the genes most negatively correlated with AR activity across cancers are involved in active immune system processes.

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  • Pick's disease is a rare form of frontotemporal dementia characterized by Pick bodies in the brain, which are linked to the MAPT gene and its haplotypes, H1 and H2.
  • The study aimed to investigate how the MAPT H2 haplotype influences the risk, age of onset, and duration of Pick's disease.
  • Data was collected from 338 individuals with confirmed Pick's disease across multiple sites, and associations of MAPT variants with the disease were analyzed using statistical models.
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  • Effective longitudinal biomarkers, like cerebral perfusion, are crucial for tracking disease progression in presymptomatic genetic frontotemporal dementia (FTD) carriers.
  • The study examined cerebral perfusion in various genetic FTD groups using advanced MRI techniques and found declines in gray matter perfusion across all groups, with specific regional patterns.
  • Results suggest that monitoring cerebral perfusion could serve as an early biomarker for detecting FTD before symptoms appear, especially highlighting differences among genetic subgroups.
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Introduction: We aimed to expand the range of the frontotemporal dementia (FTD) phenotypes assessed by the Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains (CDR plus NACC FTLD).

Methods: Neuropsychiatric and motor domains were added to the standard CDR plus NACC FTLD generating a new CDR plus NACC FTLD-NM scale. This was assessed in 522 mutation carriers and 310 mutation-negative controls from the Genetic Frontotemporal dementia Initiative (GENFI).

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  • Pathogenic heterozygous mutations in the GRN gene are a significant cause of frontotemporal dementia (FTD), leading to lower levels of the progranulin protein in biofluids, which has sparked therapeutic trials aimed at increasing these levels.
  • A systematic review of literature on biofluid PGRN concentrations included data from 7071 individuals, primarily focusing on plasma PGRN levels derived from a single assay type, which accounted for variations based on mutation type, age, sex, and clinical diagnosis.
  • Key findings established specific concentration cut-offs for plasma (74.8 ng/mL) and CSF (3.43 ng/mL) and indicated that plasma PGRN levels vary by mutation type,
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Background: Left atrial (LA) speckle tracking provides detailed information on atrial function. Its utility for predicting subclinical atrial fibrillation (SCAF) is unclear. Therefore, we sought to investigate whether LA strain measures could predict SCAF detected by long-term continuous rhythm monitoring.

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