A5007208270- Head and Neck Cancer Studies
- Cancer Immunotherapy and Biomarkers
- Colorectal and Anal Carcinomas
- Cancer Genomics and Diagnostics
- Sarcoma Diagnosis and Treatment
- Genomics and Rare Diseases
- Multiple Myeloma Research and Treatments
- Head and Neck Surgical Oncology
- Vascular Tumors and Angiosarcomas
- Fetal and Pediatric Neurological Disorders
- Immune Cell Function and Interaction
- Hearing, Cochlea, Tinnitus, Genetics
- Salivary Gland Disorders and Functions
- Epilepsy research and treatment
- Salivary Gland Tumors Diagnosis and Treatment
- CRISPR and Genetic Engineering
- RNA modifications and cancer
- Sinusitis and nasal conditions
- Corneal Surgery and Treatments
- Head and Neck Anomalies
- Lymphoma Diagnosis and Treatment
- Lung Cancer Treatments and Mutations
- CAR-T cell therapy research
- Radiomics and Machine Learning in Medical Imaging
- Nasal Surgery and Airway Studies
Severance Hospital
2015-2025
Yonsei University
2013-2025
Korea Advanced Institute of Science and Technology
2018-2024
Yonsei University Health System
2015-2022
Chungnam National University
2018
Abstract Focal malformations of cortical development (MCD) are linked to somatic brain mutations occurring during neurodevelopment. Mild malformation with oligodendroglial hyperplasia in epilepsy (MOGHE) is a newly recognized clinico-pathological entity associated pediatric drug-resistant focal epilepsy, and amenable neurosurgical treatment. MOGHE histopathologically characterized by clusters increased cell densities, patchy zones hypomyelination, heterotopic neurons the white matter. The...
Abstract Objective Focal cortical dysplasia (FCD) is a major cause of difficult‐to‐treat epilepsy in children and young adults, the diagnosis currently based on microscopic review surgical brain tissue using International League Against Epilepsy classification scheme 2011. We developed an iterative histopathological agreement trial with genetic testing to identify areas diagnostic challenges this widely used scheme. Methods Four web‐based digital pathology trials were completed by 20...
Salivary glands that produce and secrete saliva, which is essential for lubrication, digestion, immunity, oral homeostasis, consist of diverse cells. The long-term maintenance salivary gland cells in organoids remains problematic. Here, we establish murine human organoid cultures. Murine express gland-specific genes proteins acinar, myoepithelial, duct cells, exhibit functions when stimulated with neurotransmitters. Furthermore, are established from isolated basal or luminal retaining their...
To identify whether somatic mutations in SLC35A2 alter N-glycan structures human brain tissues and cause nonlesional focal epilepsy (NLFE) or mild malformation of cortical development (mMCD).Deep whole exome targeted sequencing analyses were conducted for matched blood from patients with intractable NLFE mMCD who are negative mTOR pathway genes. Furthermore, tissue glyco-capture nanoLC/mass spectrometry analysis performed to examine N-glycosylation affected tissue.Six the 31 (19.3%) study...
Brain mosaic mutations are a major cause of refractory focal epilepsies with cortical malformations such as dysplasia, hemimegalencephaly, malformation development oligodendroglial hyperplasia in epilepsy, and ganglioglioma. Here, we collected cerebrospinal fluid (CSF) during epilepsy surgery to search for somatic variants cell‐free DNA (cfDNA) using targeted droplet digital polymerase chain reaction. In 3 12 epileptic patients known previously identified brain tissue, here provide evidence...
Background Oropharyngeal squamous cell carcinoma (OPSCC) induced by human papillomavirus (HPV-positive) is associated with better clinical outcomes than HPV-negative OPSCC. However, the benefits of immunotherapy in patients HPV-positive OPSCC remain unclear. Methods To identify cellular and molecular factors that limited HPV immunotherapy, we performed single-cell RNA (n=20) T-cell receptor sequencing (n=10) analyses tonsil or base tongue tumor biopsies prior to immunotherapy. Primary...
Highlights•Intercellular transfer is a general feature of homeodomain proteins (HPs)•HP secretion cell-context-sensitive event•Hydrophobic residues outside the support HPSummaryThe found in hundreds transcription factors that play roles fate determination via cell-autonomous regulation gene expression. However, some homeodomain-containing (HPs) are thought to be secreted and penetrate neighboring cells affect recipient cell fate. To determine whether this characteristic HPs, we carried out...
Abstract Aims Focal cortical dysplasia (FCD) type 2 is an epileptogenic malformation of the neocortex associated with somatic mutations in mammalian target rapamycin (mTOR) pathway. Histopathologically, FCD subdivided into 2a and 2b, only discriminator being presence balloon cells (BCs) 2b. While pro‐epileptogenic immune system activation inflammatory responses are commonly detected both subtypes, it unknown what contextual role BCs play. Methods The present study employed RNA sequencing...
Clinical implications of neoadjuvant immunotherapy in patients with locally advanced but resectable head and neck squamous cell carcinoma (HNSCC) remain largely unexplored.
Abstract Head and neck squamous cell carcinoma (HNSCC) presents a significant therapeutic challenge because of the limited effectiveness current treatments including immunotherapy chemotherapy. This study investigated potential novel combination therapy using allogeneic natural killer (NK) cells cetuximab, an anti-epidermal growth factor receptor monoclonal antibody, to enhance anti-tumor efficacy in HNSCC. Allogeneic NK were tested against HNSCC vitro NOG (NOD/Shi-scid/IL-2Rγ null)...
Abstract Background Salivary gland (SG) hypofunction presents a significant clinical challenge with limited treatment options. SG epithelial cells offer promising approach due to their intrinsic tissue specificity and regenerative potential. However, the lack of efficient culture methods has hindered use. Methods This study chemical reprogramming (CRC) system that utilizes combination three small molecules for long-term two-dimensional human progenitor cells. We characterized cultured cells,...
Abstract Background: Head and neck squamous cell carcinoma (HNSCC) is a challenging malignancy with limited response rates to conventional therapies, including immune checkpoint inhibitors cetuximab monotherapy. Despite recent advancements in immunotherapy, significant unmet need remains owing suboptimal efficacy. This study investigated the potential of novel combination therapy using allogeneic natural killer (NK) cells cetuximab, an anti-epidermal growth factor receptor monoclonal...
We studied the distribution of germline and somatic variants in epilepsy surgery patients with (suspected) malformations cortical development (MCD) who underwent between 2015 2020 at University Medical Center Utrecht (the Netherlands) pooled our data four previously published cohort studies. Tissue analysis yielded a pathogenic variant 203 663 (31%) combined cases. In 126 379 (33%) focal dysplasia (FCD) type II cases 23 37 (62%) hemimegalencephaly cases, was identified, mostly involving mTOR...
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) belongs to a group of conditions called the PIK3CA-related overgrowth spectrum (PROS). The varying phenotypes and low frequencies each somatic mosaic variant make confirmative diagnosis difficult. We present 12 patients who were diagnosed clinically genetically with MCAP. Genomic DNA was extracted mainly from skin affected lesions, also peripheral blood leukocytes buccal epithelial cells, target panel sequencing using...
Cochlea macrophages regulate cochlea inflammation and may harbors the potentials to protect hearing function from injury, including acoustic overstimulation. macrophage numbers increase at 3-7 days after stimulation. However, exact timing of infiltration maturation inflammatory monocytes is unclear. Furthermore, neutrophils also be involved in this process. Therefore, study, we investigated time-dependent immune cell infiltration, transformation, neutrophil involvement following Flow...
We investigated the long-term effects of repetitive transcranial magnetic stimulation (rTMS) delivered to temporoparietal junction and compared contralateral ipsilateral application in patients with unilateral tinnitus.Prospective study.A total 61 asymmetric hearing loss nonpulsatile chronic tinnitus localized poorer ear who were refractory medical treatment enrolled. Patients randomly assigned one two groups: 1-Hz applied either ipsilaterally (n = 30) or contralaterally 31) symptomatic ear....
Objective We investigated whether the size of cochlear aqueduct (CA) is increased in patients with enlarged vestibular aqueducts (EVAs) compared individuals normal inner ear anatomy. Furthermore, we assessed CA related to cerebrospinal fluid (CSF) gusher during implantation (CI) surgery. Study Design Retrospective study. Setting Tertiary referral center. Patients The medical records for 35 a biallelic SLC26A4 mutation were reviewed. All confirmed have EVA by temporal bone computed tomography...
Calcium alginate is a biodegradable gel-transforming agent widely used for nasal packing. It can reduce pain and improve comfort. However, few randomised controlled trials have compared the efficacy of calcium packing with that other materials.Prospective, randomised, single-blinded study.Yonsei University Severance Hospital, tertiary academic medical centre.Twenty-seven patients (54 nostrils) chronic rhinosinusitis who were scheduled bilateral endoscopic sinus surgery enrolled. After...
A multifactorial antiepileptic mechanism underlies the ketogenic diet (KD), and one of proposed mechanisms action is that KD inhibits mammalian target rapamycin (mTOR) pathway. To test this clinically, study aimed to determine efficacy in patients with pathologically confirmed focal cortical dysplasia (FCD) due genetically identifiable mTOR pathway dysregulation.A cohort FCD after epilepsy surgery who were screened for presence germline somatic mutations related peripheral blood resected...
Abstract Purpose: Monotherapy with eribulin or gemcitabine has been found to be moderately effective in treating soft-tissue sarcomas (STS). In this study, we evaluated the efficacy and safety of eribulin–gemcitabine combination therapy for two most common histologic types STS, liposarcoma leiomyosarcoma. Patients Methods: nonrandomized, multicenter, phase II included patients progressive disease who had received one courses chemotherapy that doxorubicin. were administered 1.4 mg/m2 1,000 on...
Lymph node (LN) metastasis is an important factor in determining the treatment and prognosis of oropharyngeal squamous cell carcinoma (OPSCC). Here, we compared somatic mutational profiles clonal evolution primary metastatic LNs using multiregion sequencing human papilloma virus (HPV)-positive OPSCC HPV-negative OPSCC. We performed high-depth whole-exome (200×) 76 samples from 18 patients with (10 HPV-positive 8 HPV-negative), including tumor samples, 40 LN normal tissue samples. Among LNs,...
11552 Background: We conducted an open-label, phase IB/II study to determine the activity and safety of standard-of-care, doxorubicin in combined with anti-PD-L1 immune checkpoint inhibitor, durvalumab, patients anthracycline-naïve soft tissue sarcoma (STS) identified who would likely benefit from combination treatment. Methods: In this trial (NCT03798106), we enrolled metastatic and/or recurrent STS had not received anthracycline chemotherapy PD-L1/PD-1 inhibitor. Phase IB assessed...