A5010388069- Prenatal Screening and Diagnostics
- BRCA gene mutations in cancer
- Ethics and Legal Issues in Pediatric Healthcare
- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Reproductive Health and Technologies
- COVID-19 Impact on Reproduction
- Chromosomal and Genetic Variations
- Genomic variations and chromosomal abnormalities
- Childhood Cancer Survivors' Quality of Life
- Pediatric Pain Management Techniques
- RNA regulation and disease
- Biomedical Research and Pathophysiology
- Anesthesia and Pain Management
- Genomics and Rare Diseases
- Trypanosoma species research and implications
- Anesthesia and Neurotoxicity Research
Vanderbilt University Medical Center
2007-2024
Vanderbilt University
2004-2023
University Hospital Heidelberg
2022
Heidelberg University
2022
Medical Genetics Center
2004
We report a patient with Pompe disease who developed reversible nephrotic syndrome during prolonged, high-dose, experimental, enzyme replacement therapy recombinant human acid α-glucosidase (rhGAA). Because of the development antibodies to rhGAA and concomitant clinical decline, escalating doses were administered as part an experimental immune tolerance regimen. Histologic evaluation kidney tissue revealed glomerular deposition complexes containing itself, in pattern membranous nephropathy....
Abstract Objectives Use high‐resolution genome analysis to clarify the genomic integrity in a fetus with cytogenetically balanced translocation t(2;9)(q11.2;q34.3). Methods High resolution molecular cytogenetic analyses including G‐banded chromosome analysis, fluorescence situ hybridization (FISH), and array‐comparative (CGH) were performed on cultured cells, DNA extracted from chorionic villus sample (CVS), amniotic fluid cells fetal tissue. In addition, custom fosmid‐based tiling path...
Abstract Perinatal palliative care is a collaborative model of providing to fetuses diagnosed with life‐limiting conditions along supportive parents. The study explored perceptions and current practice trends genetic counselors related this care. An ethics framework was used structure the study. This cross‐sectional, mixed method conducted illuminate perceptions, barriers, familiarity perinatal care, clinician comfort, referral comfort. Palliative Care Perceptions Barriers Scale...
Abstract The COVID‐19 pandemic widely disrupted the delivery of healthcare services, including genetic counseling. To ensure continuity care, reproductive counselors at a large academic medical center in United States rapidly transitioned their practice from 90% in‐person patient consultations to predominantly telehealth model. present study describes this transition regard access counseling and screening. A chart review patients seen by January 2020 August was completed. time frame included...
Genetic medicine is considered a major part of the future preventative care, offering evidence-based, effective interventions to improve health outcomes and reduce morbidity mortality, especially regarding hereditary cancer screening. Identification individuals who would benefit from screening key improving their cancer-related healthcare outcomes. However, patients without insurance, historically underserved races, lower socioeconomic status, in rural communities have access such care....
In preterm infants, spinal anesthesia (SpA) is recognized as an alternative to general for inguinal hernia repair (IHR); however, some patients require supplemental during surgery. The purpose of this study was investigate the frequency and impact on perioperative care adverse respiratory hemodynamic events.A retrospective infants undergoing IHR at Heidelberg University Hospital within first year life between 2009 2018 carried out.In total, 230 (255 surgeries) were investigated. Among 189...