A5101423469- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Chromosomal and Genetic Variations
- Hedgehog Signaling Pathway Studies
- Plant Stress Responses and Tolerance
- Anesthesia and Pain Management
- Cerebral Venous Sinus Thrombosis
- Cleft Lip and Palate Research
- Nausea and vomiting management
- Genetic Neurodegenerative Diseases
- Congenital limb and hand anomalies
- Plant Molecular Biology Research
- Ocular Disorders and Treatments
- Plant Reproductive Biology
- Craniofacial Disorders and Treatments
- Mitochondrial Function and Pathology
- Environmental DNA in Biodiversity Studies
- Metabolism and Genetic Disorders
- Intraoperative Neuromonitoring and Anesthetic Effects
Albert Einstein College of Medicine
2024
Konkuk University
2023
Boston College
2018-2021
Yonsei University
2019
Wolf-Hirschhorn syndrome (WHS) is a rare developmental disorder characterized by intellectual disability and various physical malformations including craniofacial, skeletal, cardiac defects. These phenotypes, as they involve structures that are derived from the cranial neural crest, suggest WHS may be associated with abnormalities in crest cell (NCC) migration. This linked assorted mutations on short arm of chromosome 4, most notably microdeletion critical genomic region containing several...
Wolf-Hirschhorn Syndrome (WHS) is a human developmental disorder arising from hemizygous perturbation, typically microdeletion, on the short arm of chromosome four. In addition to pronounced intellectual disability, seizures, and delayed growth, WHS presents with characteristic facial dysmorphism varying prevalence microcephaly, micrognathia, cartilage malformation in ear nose, asymmetries. These affected craniofacial tissues all derive shared embryonic precursor, cranial neural crest (CNC),...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), which is caused by mutations in SACS gene, a very rare neurodegenerative disorder characterized the clinical triad early onset cerebellar ataxia, pyramidal tract features, and sensorimotor polyneuropathy. Herein, we report 35-year-old Korean male who presented with gait disturbance lower extremity weakness. Neuroimaging ophthalmologic evaluation revealed features consistent ARSACS. Mutation gene was demonstrated exome...
Background Preservative-free chloroprocaine is a promising spinal anesthetic for ambulatory surgeries, offering short duration of action and minimal side effects, which promote faster recovery discharge. Thus, this study aimed to compare hydrochloride the widely used bupivacaine as in anorectal surgeries. We hypothesized that will lead quicker discharge, supporting its use surgical setting. Methods In double-blind randomized controlled trial, 110 patients were 1% or 0.75% treatment groups....
In multicellular organisms, including higher plants, asymmetric cell divisions (ACDs) play a crucial role in generating distinct types. The Arabidopsis root ground tissue initially has two layers: endodermis (inside) and cortex (outside). the mature root, undergoes additional ACDs to produce itself middle (MC), located between pre-existing cortex. gibberellic acid (GA) deficiency hydrogen peroxide (H 2 O ) precociously induced more frequent for MC formation. Thus, these findings suggest that...
The authors found the changes of myelinated retinal nerve fibers in one pair identical twins with nonsyndromic craniosynostosis and two patients Crouzon syndrome, who were at risk for impaired lamina cribrosa barrier function. This is first report progressive presumed acquired craniosynostosis. [J Pediatr Ophthalmol Strabismus. 2021;58(6):e40-e43.].
Wolf-Hirschhorn Syndrome (WHS) is a human developmental disorder arising from hemizygous perturbation, typically microdeletion, on the short arm of chromosome four. In addition to pronounced intellectual disability, seizures, and delayed growth, WHS presents with characteristic facial dysmorphism varying prevalence microcephaly, micrognathia, cartilage malformation in ear nose, asymmetries. These affected craniofacial tissues all derive shared embryonic precursor, cranial neural crest,...