A5067667229- Congenital limb and hand anomalies
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Metabolomics and Mass Spectrometry Studies
- Neurofibromatosis and Schwannoma Cases
- Congenital Ear and Nasal Anomalies
- Mosquito-borne diseases and control
- Tracheal and airway disorders
- Diet and metabolism studies
- Prenatal Screening and Diagnostics
- Malaria Research and Control
- Immunodeficiency and Autoimmune Disorders
- Cell Adhesion Molecules Research
- Neurological Disease Mechanisms and Treatments
- Pregnancy and preeclampsia studies
- Meningioma and schwannoma management
- Dementia and Cognitive Impairment Research
- Health, Environment, Cognitive Aging
- Genomic variations and chromosomal abnormalities
- Ethics and Legal Issues in Pediatric Healthcare
- Cardiovascular Issues in Pregnancy
- Cystic Fibrosis Research Advances
- Genetic Syndromes and Imprinting
- Orthopedic Surgery and Rehabilitation
- Chromosomal and Genetic Variations
University of Cincinnati
2019-2024
Cincinnati Children's Hospital Medical Center
2019-2024
St. Jude Children's Research Hospital
2024
University of Tennessee Health Science Center
2024
University of Cincinnati Medical Center
2022-2024
Le Bonheur Children's Hospital
2024
Utica College
2021
National Institute on Aging
2015-2016
University of Mississippi Medical Center
2014-2016
Jackson Memorial Hospital
2015-2016
Recently, quantitative metabolomics identified a panel of 10 plasma lipids that were highly predictive conversion to Alzheimer's disease (AD) in cognitively normal older individuals (n = 28, area under the curve [AUC] 0.92, sensitivity/specificity 90%/90%).Quantitative targeted serum using an identical method as index study.We failed replicate these findings substantially larger study from two independent cohorts-the Baltimore Longitudinal Study Aging ([BLSA], n 93, AUC 0.642, 51.6%/65.7%)...
Background— Hypertensive pregnancy disorders have been associated with subjective cognitive complaints or brain white-matter lesions 5 to 10 years after the hypertensive pregnancy. The long-term effects of pregnancies on structure and function remain unknown. Methods Results— This study included 1279 women who participated in Family Blood Pressure Project Genetic Epidemiology Network Arteriopathy (GENOA) study. As part ancillary Genetics Microangiopathic Brain Injury (GMBI) study, a...
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic that characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs symptoms. It caused variants in either of two genes ( CREBBP , EP300 ) which encode for the proteins CBP p300, both have a function transcription regulation histone acetylation. As group international experts national support groups dedicated to syndrome, we realised marked heterogeneity...
Individuals with Kabuki syndrome present immunodeficiency; however, how pathogenic variants in the gene encoding histone-modifying enzyme lysine methyltransferase 2D (KMT2D) lead to immune alterations remain poorly understood. Following up on our prior report of KMT2D-altered integrin expression B-cells, we performed targeted analyses KMT2D’s influence T-cells throughout development (thymocytes through peripheral T-cells) murine cells constitutive- and conditional-targeted Kmt2d deletion....
We recently showed that Alzheimer's disease patients have lower plasma concentrations of the phosphatidylcholines (PC16:0/20:5; PC16:0/22:6; and PC18:0/22:6) relative to healthy controls. now extend these findings by examining associations between PCs with cognition brain function (measured regional resting state cerebral blood flow; rCBF) in non-demented older individuals. Within Baltimore Longitudinal Study Aging neuroimaging substudy, participants underwent cognitive assessments 15...
Objectives To examine associations between specific inflammatory biomarkers and cognitive function in African Americans (AAs) European (EAs) with prevalent vascular risk factors. Design Cross‐sectional analysis using generalized estimating equations to account for familial clustering; standardized β‐coefficients, adjusted age, sex, education are reported. Setting Community cohort study Jackson, Mississippi, Rochester, Minnesota. Participants Genetic Epidemiology Network of Arteriopathy...
Objective: CHARGE syndrome (CS) is a genetic disorder caused by pathogenic variants within chromodomainhelicase DNA-binding protein 7 (CHD7). The classical presentation includes coloboma,congenital heart defects, atresia of the choanae, retardation development, genital hypoplasia, andear anomalies. Clinical varies widely type and severity. Structural anomalies earcause hearing loss in 93 percent individuals with CS. Factors to predict degree hearingloss among individual patients CS have not...
Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four categories (mild, moderate, severe, profound) to 176 screened by ECS. traits defining in the were then mapped severity-related ECS panel design criteria cited American College of Obstetricians Gynecologists (ACOG).Eight genetic counselors (GCs) medical geneticists (MDs) subsets...
CREB-binding protein (CBP, encoded by CREBBP) and its paralog E1A-associated (p300, EP300) are involved in histone acetylation transcriptional regulation. Variants that produce a null allele or disrupt the catalytic domain of either cause Rubinstein-Taybi syndrome (RSTS), while pathogenic missense in-frame indel variants parts exons 30 31 phenotypes recently described as Menke-Hennekam (MKHK). To distinguish MKHK subtypes define their characteristics, molecular extended clinical data on 82...
The goals of our study were to: 1) describe the incidence disturbances in sleep quality, hygiene, sleep-related cognitions and nightmares; 2) investigate association between these suicidal ideation (SI), adolescents admitted to a psychiatric inpatient unit. Our sample consisted 50 ages 12 17 years (32 females 18 males; 41 Caucasian nine African American). cross-sectional design involved administration Adolescent Sleep Wake Scale (ASWS), Hygiene (ASHS), Dysfunctional Beliefs Attitudes about...
Summary A patient with secondary syphilis presenting jaundice is reported. Hepatic histology showed evidence of non-specific granuloma and active hepatitis but no cholestasis. This has been treated successfully antisyphilitic therapy. The possibility syphilitic pancreatitis diabetes mellitus discussed. importance serological tests for in obscure origin emphasized.
Abstract We aim to assess if genotype–phenotype correlations are present within ocular manifestations of Kabuki syndrome (KS) among a large multicenter cohort. conducted retrospective, medical record review including clinical history and comprehensive ophthalmological examinations total 47 individuals with molecularly confirmed KS at Boston Children's Hospital Cincinnati Medical Center. assessed information regarding structural, functional, adnexal elements as well pertinent associated...
Introduction: Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder characterized by developmental and intellectual disability, broadening of thumbs halluces, characteristic facial features. Pathogenic variants in CREBBP lead to RSTS type 1 (RSTS1) EP300 2 (RSTS2). Individuals with can demonstrate variety behavioral neuropsychiatric challenges, including anxiety, hyperactivity/inattention, self-injury, repetitive behaviors, aggression. Behavioral challenges are consistently reported...
Leukocyte adhesion deficiency (LAD) I is a well-described genetic disorder in which leukocytes are unable to migrate sites of inflammation due mutations the ITGB2 gene coding for β subunit β2 (CD18) leukocyte integrins. The classic symptoms disease present newborn period as failure separation umbilical cord and recurrent bacterial infections, continue throughout life. We report on patient with these clinical manifestations but normal sequencing excluding LAD-I, carbohydrate-deficient...
Abstract Increasing use of unbiased genomic sequencing in critically ill infants can expand understanding rare diseases such as Kabuki syndrome (KS). Infants diagnosed with KS through genome‐wide performed during the initial hospitalization underwent retrospective review medical records. Human phenotype ontology terms used analysis were aggregated and analyzed. Clinicians surveyed regarding changes management other care changes. Fifteen met inclusion criteria. was not suspected prior to...
Abstract We performed an observational cohort study to assess associations between genetic factors of dengue fever (DF) severity in children the Dominican Republic. A total 488 participants had serologically confirmed DF. replicated association IFIH1 gene (rs1990760) and severe DF (n = 80/488, p 0.006) identified novel needing further investigation.
Abstract Neurofibromatosis type 1 (NF‐1) microdeletion syndrome accounts for 5 to 11% of individuals with NF‐1. The aim our study was characterize a large cohort NF‐1 and expand its natural history. We conducted retrospective chart review from 1994 2024 followed at two Clinics. This consists 57 (28 type‐1, 4 type‐2, 2 type‐3, 9 atypical deletions, 14 indeterminate). note 38/56 (67.9%) describable facial features, 25/57 (43.8%) plexiform neurofibromas, 3/57 (5.2%) malignant peripheral nerve...