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Hong Sunmok,Jeon Jihui,Chang Won Kee 대한근전도전기진단의학회 2023 대한근전도 전기진단의학회지 Vol.25 No.1
Cranial neuropathy and radiculopathy are common complications of tuberculous meningitis. However, the co-occurrence of these complications and the corresponding electrodiagnostic findings have rarely been reported. We report a patient diagnosed with tuberculous meningitis who presented with difficulty in smelling, facial paralysis, hearing loss, and severe weakness in the bilateral lower extremities. A neurological examination confirmed impaired function of the olfactory nerves. Electrodiagnostic studies, including a nerve conduction study, electromyography, and brainstem auditory evoked potential, revealed multiple cranial neuropathies involving the left facial nerve and bilateral vestibulocochlear nerves, as well as bilateral lumbosacral polyradiculopathies. In patients with tuberculous meningitis, multiple cranial neuropathies and polyradiculopathies can occur simultaneously as complications, and electrodiagnostic studies can enable an accurate diagnosis of these complications and an assessment of their severity.
Facial Cutaneous Rosai-Dorfman Disease: Dermoscopic Findings with Successful Surgical Treatment
허근영,Ji Yeon Hong,Kyu Han Kim,Jihui Jeon,이철,곽윤진,김태민,문제호 대한피부과학회 2023 Annals of Dermatology Vol.35 No.-
Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis characterized by an accumulation of activated histiocytes within the affected tissues. It is a heterogeneous disease that includes the classical (nodal) and extra-nodal variants. The cutaneous form of the disease without the characteristic lymphadenopathy is rare and is often misdiagnosed as other dermatologic diseases. Misdiagnosis as lymphoproliferative and infectious diseases such as lymphoma and tuberculosis have been reported in the literature. Herein, we report a case of facial cutaneous RDD with successful surgical treatment. In addition, we provide dermoscopic findings and literature review as dermoscopy can be a useful adjuvant tool in the diagnosis of cutaneous RDD.
A newly developed capture-based sequencing panel for genomic assay of lung cancer
Sun‑Wha Im,Jeesoo Chae,Se Song Jang,Jaeyong Choi,Jihui Yun,차수진,Nak‑Jung Kwon,Yoon Kyung Jeon,Yoohwa Hwang,Miso Kim,Tae Min Kim,Dong‑Wan Kim,Jong‑Il Kim,Young Tae Kim 한국유전학회 2020 Genes & Genomics Vol.42 No.7
Background The increase in genetic alterations targeted by specific chemotherapy in lung cancer has led to the need for universal use of more comprehensive genetic testing, which has highlighted the development of a lung cancer diagnostic panel using next-generation sequencing. Objective We developed a hybridization capture-based massively parallel sequencing assay named Friendly, Integrated, Research-based, Smart and Trustworthy (FIRST)-lung cancer panel (LCP), and evaluated its performance. Methods FIRST-LCP comprises 64 lung cancer-related genes to test for various kinds of genetic alterations including single nucleotide variations (SNVs), insertions and deletions (indels), copy number variations (CNVs), and structural variations. To assess the performance of FIRST-LCP, we compiled test sets using HapMap samples or tumor cell lines with disclosed genetic information, and also tested our clinical lung cancer samples whose genetic alterations were known by conventional methods. Results FIRST-LCP accomplished high sensitivity (99.4%) and specificity (100%) of the detection of SNVs. High precision was also achieved, with intra- or inter-run concordance rate of 0.99, respectively. FIRST-LCP detected indels and CNVs close to the expected allele frequency and magnitude, respectively. Tests with samples from lung cancer patients also identified all SNVs, indels and fusions. Conclusion Based on the current state of the art, continuous application of the panel design and analysis pipeline following up-to-date knowledge could ensure precision medicine for lung cancer patients.
Facial Cutaneous Rosai-Dorfman Disease: Dermoscopic Findings with Successful Surgical Treatment
( Keunyoung Hur ),( Ji Yeon Hong ),( Kyu Han Kim ),( Jihui Jeon ),( Cheol Lee ),( Yoonjin Kwak ),( Tae Min Kim ),( Je-ho Mun ) 대한피부과학회 2023 Annals of Dermatology Vol.35 No.7
Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis characterized by an accumulation of activated histiocytes within the affected tissues. It is a heterogeneous disease that includes the classical (nodal) and extra-nodal variants. The cutaneous form of the disease without the characteristic lymphadenopathy is rare and is often misdiagnosed as other dermatologic diseases. Misdiagnosis as lymphoproliferative and infectious diseases such as lymphoma and tuberculosis have been reported in the literature. Herein, we report a case of facial cutaneous RDD with successful surgical treatment. In addition, we provide dermoscopic findings and literature review as dermoscopy can be a useful adjuvant tool in the diagnosis of cutaneous RDD.