A5047324093- Cerebral Palsy and Movement Disorders
- Genomic variations and chromosomal abnormalities
- Botulinum Toxin and Related Neurological Disorders
- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- Infant Development and Preterm Care
- Muscle Physiology and Disorders
- Craniofacial Disorders and Treatments
- Peripheral Nerve Disorders
- Voice and Speech Disorders
- Family and Disability Support Research
- Genetics and Neurodevelopmental Disorders
- Hereditary Neurological Disorders
- Speech Recognition and Synthesis
- Connective tissue disorders research
- Cancer Genomics and Diagnostics
- Neonatal and fetal brain pathology
- Congenital heart defects research
- Nerve Injury and Rehabilitation
- Genetic Syndromes and Imprinting
- Facial Nerve Paralysis Treatment and Research
- Cleft Lip and Palate Research
- Lymphatic System and Diseases
- Phonetics and Phonology Research
- Genetic Neurodegenerative Diseases
Incheon St. Mary's Hospital
2015-2025
Catholic University of Korea
2015-2025
Cornell University
2025
Incheon Catholic University
2024
Weatherford College
2020
Foundation for Physical Medicine and Rehabilitation
2015
St. Paul's Hospital
2014
HJF Medical Research International
2012
University of Ulsan
2006-2011
Asan Medical Center
2006-2011
To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier diagnostic test and to determine impact CMA results on patient management, we conducted multicenter prospective study in Korean patients diagnosed having developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), multiple congenital anomalies (MCA).We performed both G-banding cytogenetics tests 617 patients. whether directly influenced treatment recommendations, referring...
Background Dysphagia is a common sequela of stroke. However, specific swallowing impairments associated with brain lesions at different sites are not well characterized. Objective This study aimed to determine the relationship between location supratentorial and features dysphagia. Methods Medical records patients first-ever stroke who underwent videofluoroscopic studies within 4 weeks onset were retrospectively analyzed. Results A total 158 (92 men 66 women) included. The in internal...
Introduction Cerebral palsy (CP) is a leading cause of motor developmental disability in children. Generating epidemiological data on CP could enable early diagnosis, intervention and translational research. We aim to establish Korean network online repository for called the Palsy Registry (KCPR). Methods analysis The KCPR nationwide, multicentre, prospective cohort study designed conduct 20-year longitudinal follow-up children with CP. Institution-based surveillance involving 42...
Variant transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare, progressive multisystem disorder caused by pathogenic variants in the (TTR) gene. Primarily characterized polyneuropathy, disease results from amyloid fibril deposition endoneurium, which leads to sensory, motor, and autonomic impairments. ATTRv-PN exhibits significant clinical heterogeneity driven genotype–phenotype correlations, complicating diagnosis—especially nonendemic regions. Early recognition through genetic...
Objective To investigate the factors influencing development of self-care activity, and association between mobility activity in children with cerebral palsy (CP). Methods A total 63 CP aged ≥4 years, were studied retrospectively. Children severe intellectual disability or behavioral problems excluded. The relationship Gross Motor Function Classification System (GMFCS), Manual Ability (MACS), Pediatric Evaluation Disability Inventory (PEDI) was analyzed. Simple multiple linear regression...
We describe the fourth reported case of a de novo 2q33.3–q34 interstitial deletion and review literature in attempt to identify relevant candidate genes. A 15‐month‐old female patient presented for evaluation with poor eye contact developmental delay. She had microcephaly mild dysmorphic features, such as downslanting palpebral fissures, high forehead, small mouth, palate, general hypotonia. At 30 months age, she was referred genetic clinic an persistent delay, autistic traits, Rett‐like...
Abstract Background Recently, cell-based therapeutic lymphangiogenesis has emerged and provided hope for lymphatic regeneration. Previous studies have demonstrated that secretomes of mesenchymal stem cells (MSCs) facilitate the regeneration various damaged tissues. This study was conducted to evaluate lymphangiogenic potential hypoxic conditioned media (HCM) from MSCs. Methods To investigate effects MSC-secreted factors in starved human endothelial (hLEC), hLECs were treated with basal...
To compare clinical findings for patients with congenital muscular torticollis (CMT) between those and without a sternocleidomastoid (SCM) lesion.Medical records of 182 CMT were retrospectively reviewed the divided into SCM lesion nonlesion groups by ultrasonographic results. Intrauterine position, age, duration therapy, rotation/tilting side, passive range motion angle neck compared.There 74 108 cases. The mean age at first visit was 55.3 days in group 146.6 group. therapy time 66.5 days,...
This study presents a model of automatic speech recognition (ASR) that is designed to diagnose pronunciation issues in children with sound disorders (SSDs) replace manual transcriptions clinical procedures. Because ASR models trained for general purposes mainly predict input into standard spelling words, well-known high-performance are not suitable evaluating SSDs. We fine-tuned the wav2vec2.0 XLS-R recognise words as they pronounced by children, rather than converting their words. The was...
Objective This study of pressure monitoring multilayer inelastic bandaging and the effect padding in breast cancer–related lymphedema patients aimed to measure resting working sub-bandage pressures compression therapy for determine whether applying additional has an volume reduction limb. Design Forty-eight with cancer who were beginning complex decongestive included. In 24 patients, was added forearm. A short-stretch bandage or without applied affected arm. The measured while squeezed a...
Objective To evaluate the pathophysiological mechanism of hemifacial spasm (HFS), we performed electrophysiological examinations, such as supraorbital nerve stimulation with orbicularis oris muscle recording and lateral spread tests, after suppressing patient's central nervous system by administering intravenous diazepam. Methods Six patients HFS were recruited. Supraorbital test performed, followed application 10 mg diazepam to achieve facial motor neuron suppression. Subsequently, repeated...
Abstract Background Multigene panel sequencing (MGPS) is the first‐line option in diagnostic testing for genetically heterogeneous but clinically similar conditions, such as neuromuscular disorders (NMDs). In this study, we aimed to assess utility of comprehensive NMD MGPS and need updated panels. Methods All patients were analyzed by either two versions chromosomal microarray karyotype testing. Four with negative results underwent whole exome sequencing. Results total, 91 enrolled, a...
While somatic gain-of-function mutations in the CTNNB1 gene cause diverse malignancies, germline loss-of-function neurodevelopmental disorders or familial exudative vitreoretinopathy. In particular, CTNNB1-related have various phenotypes, and a genotype-phenotype relationship has not been established. We report two patients with disorder whose clinical features were similar to those of cerebral palsy, hindering diagnosis.
Despite the current widespread use of chromosomal microarray analysis (CMA) and exome/genome sequencing for genetic diagnosis unexplained intellectual disability (ID) in children, gaining improved diagnostic yields defined guidelines remains a significant challenge. This is cohort study children with ID. We analyzed yield its correlation to clinical phenotypes ID who underwent concurrent CMA exome (CES). A total 154 were included (110 [71.4%] male; mean [SD] age, 51.9 [23.1] months). The...
Objective: To identify factors associated with the efficacy of botulinum toxin-A (BoNT-A) injections. Methods: Thirty-eight children spastic cerebral palsy (CP) received BoNT-A injections into gastrocnemius. The baseline anti-botulinum antibodies were checked. Static dorsiflexion range motion (ROM), Modified Tardieu Scale (MTS) and Physician Rating (PRS) assessed at pre-injection as well 4- 12-week post-injection. Results: No samples contained antibodies. Greater MTS dynamic was greater...
Leigh syndrome is a neurodegenerative disorder that presents with fluctuation and stepwise deterioration, such as neurodevelopmental delay regression, dysarthria, dysphagia, hypotonia, dystonia, tremor, spasticity, epilepsy, respiratory problems. The characteristically symmetric necrotizing lesions in the basal ganglia, brainstem, cerebellum, thalamus, spinal cord on cranial magnetic resonance imaging. To date, more than 85 genes are known to be associated syndrome. Here, we present rare...
Hereditary sensory and autonomic neuropathy (HSAN) 2B is a rare disease has been reported mostly in offsprings of consanguineous parents. Here we report the case patient born to non-consanguineous parents who was diagnosed with HSAN caused due novel frameshift mutation (NM_001034850.2: c.765dupT/p.Gly256TrpfsTer7) RETREG1 gene paternal uniparental isodisomy chromosome 5. Uniparental 5 also condition, these two events lead homozygous expression recessive mutation, as present case. Clinicians...