A5038458657- Atrial Fibrillation Management and Outcomes
- Genomic variations and chromosomal abnormalities
- Folate and B Vitamins Research
- Cardiac Arrhythmias and Treatments
- Ion Transport and Channel Regulation
- Nutritional Studies and Diet
- Health Systems, Economic Evaluations, Quality of Life
- Educational Environments and Student Outcomes
- Congenital heart defects research
- Plant Micronutrient Interactions and Effects
- Physiological and biochemical adaptations
- Liver Diseases and Immunity
- Systemic Lupus Erythematosus Research
- Geological Studies and Exploration
- Food composition and properties
- Acute Myocardial Infarction Research
- Prenatal Substance Exposure Effects
- Genomics and Rare Diseases
- Cardiac pacing and defibrillation studies
- Hedgehog Signaling Pathway Studies
- Atmospheric and Environmental Gas Dynamics
- COVID-19 Impact on Reproduction
- Genetic Syndromes and Imprinting
- Digital Storytelling and Education
- BRCA gene mutations in cancer
Yale University
2023-2024
Yale New Haven Health System
2023-2024
McKing Consulting (United States)
2024
National Center for Chronic Disease Prevention and Health Promotion
2024
Yale Cancer Center
2024
Heart Rhythm Society
2023
University of Michigan
2023
Yale New Haven Hospital
2022
Scripps Clinic
2022
AID Atlanta
2016-2017
Primary pulmonary alveolar proteinosis (PAP) is a rare syndrome characterized by accumulation of surfactant in the lungs that presumed to be mediated disruption granulocyte/macrophage colony-stimulating factor (GM-CSF) signaling based on studies genetically modified mice. The effects GM-CSF are heterologous receptors composed binding (GM-CSF-Rα) and nonbinding affinity-enhancing (GM-CSF-Rβ) subunits. We describe PAP, failure thrive, increased levels two sisters aged 6 8 yr with abnormalities...
Objective More than 80% of autoimmune disease predominantly affects females, but the mechanism for this female bias is poorly understood. We suspected that an X chromosome dose effect accounts this, and we undertook study to test our hypothesis trisomy (47,XXX; occurring in ∼1 1,000 live births) would be increased patients with female‐predominant diseases (systemic lupus erythematosus [SLE], primary Sjögren's syndrome [SS], biliary cirrhosis, rheumatoid arthritis [RA]) compared without...
Background Spina bifida and anencephaly are two major neural tube defects. They contribute substantially to perinatal, neonatal, infant, under‐five mortality life‐long disability. To monitor the progress toward total prevention of folic acid‐preventable spina (FAP SBA), we examined their global status in 2015. Methods Based on existing data, modeled proportion FAP SBA that prevented year 2015 through mandatory acid fortification globally. We included only those countries with added at least...
Pericardial effusion (PE) is a potential complication of transcatheter left atrial appendage occlusion. The objective this study was to investigate the incidence, associated characteristics, and outcomes PE following
Abstract Fanconi anemia (FA) is characterized by progressive marrow failure, congenital anomalies, and predisposition to malignancy. Biallelic FANCD1/BRCA2 mutations are the genetic basis of disease in a small proportion children with FA earlier onset increased incidence leukemia solid tumors. Patients have sensitivity chemotherapy radiation, upon development tumor, require modification these therapies. We report clinical molecular features three patients associated mutations, including two...
BACKGROUND: Procedure volumes are associated with outcomes for many cardiovascular procedures, leading to guidelines on minimum volume thresholds certain procedures; however, the volume-outcome relationship left atrial appendage occlusion is poorly understood. As such, we sought determine between hospital and physician WATCHMAN procedural success overall new generation FLX device. METHODS: We performed an analysis of procedures (January 2019 October 2021) from National Cardiovascular Data...
Cope's gray tree frog Hyla chrysoscelis accumulates glycerol during cold acclimation. We hypothesized that, this process, frogs adjust renal filtration and/or reabsorption rates to retain accumulated glycerol. During acclimation, plasma concentrations of rose >200-fold, 51 mmol/l. Although fractional water decreased, glomerular rate (GFR) and, consequently, urine flow were <5% warm levels, and increased. In contrast, dehydrated increased reabsorption, decreased GFR, did not accumulate that...
Microduplications of the Sotos syndrome region containing NSD1 on 5q35 have recently been proposed to cause a microcephaly, short stature and developmental delay. To further characterize this emerging syndrome, we report clinical details 12 individuals from 8 families found interstitial duplications involving NSD1, ranging in size 370 kb 3.7 Mb. All are microcephalic, height childhood weight range below average severely restricted. Mild-to-moderate learning disabilities and/or delay present...
The frontonasal dysplasias are a group of craniofacial phenotypes characterized by hypertelorism, nasal clefting, frontal bossing, and abnormal hairline. These conditions caused recessive mutations in members the aristaless gene family, resulting cranial neural crest migration differentiation. We report family with dominantly inherited phenotype comprised bossing high hairline, ptosis, broad tip, large anterior fontanelle, base anomalies, sagittal synostosis. Chromosomal microarray...
Abstract Introduction Incomplete anchoring of the Watchman left atrial appendage closure (LAAO) device can result in substantial migration or embolization (DME) requiring percutaneous surgical retrieval. Methods We performed a retrospective analysis procedures (January 2016 through March 2021) reported to National Cardiovascular Data Registry LAAO Registry. excluded patients with prior interventions, no released, and missing information. In‐hospital events were assessed among all...
Abstract We report on an infant with tetrasomy of 5q35.2‐5q35.3, interstitial triplication one chromosome and normal complement the other. The patient has some features Hunter–McAlpine syndrome including intrauterine growth retardation (IUGR), almond‐shaped eyes, epicanthal folds, downturned mouth thin vermillion upper lip. In addition, left ventricular noncompaction absent thumbs were identified, which have never been described in syndrome. This abnormality is distinct from those previously...
The National Cardiovascular Data Registry Left Atrial Appendage Occlusion (LAAO) includes the vast majority of transcatheter LAAO procedures performed in United States. objective this study was to develop a model predicting adverse events among patients undergoing with Watchman FLX.
Abstract We report on a male neonate with prenatally diagnosed mosaicism for supernumerary marker chromosome and multiple congenital anomalies. Prenatal ultrasound imaging revealed heart defect, pleural effusion, clubbed feet, absent right kidney. Clinical cytogenetic analysis of amniocytes identified present in 10 out 15 cells analyzed. evaluation the distinct facial features, complex defects, solitary left kidney, arachnodactyly. Chromosome lymphocytes demonstrated an abnormal karyotype...
Hand-foot-and-mouth disease (HFMD) is a common self-limited viral illness seen in the United States and around world. Its classic features are easily recognizable; however, nail changes not well known or characterized. This case demonstrates onychomadesis Beau lines child following clinical diagnosis of hand-foot-and-mouth disease. In this setting, dystrophies should be reassuring to pediatricians families.
Microarray testing has revolutionized clinical cytogenetics, as it provides a significantly higher resolution and greater yield than karyotype analysis. This study assessed the utility of single-nucleotide polymorphism microarray in patients with epilepsy. Study subjects were between ages birth to 23 years who diagnosed epilepsy had performed at Cincinnati Children’s Hospital Medical Center. Statistical analysis explored association results brain magnetic resonance imaging (MRI), seizure...
Maternal folate and vitamin B