1.2 Cases of Traumatic Inferior Oblique Palsy.
Jooyong LEE ; Hyun Taek LIM ; Hyo Sook AHN
Journal of the Korean Ophthalmological Society 2002;43(7):1349-1354
PURPOSE: Inferior oblique palsy is the least commonly isolated extraocular muscle palsy. We describe the clinical features and managements of 2 cases of traumatic inferior oblique palsy. METHODS: Two adult patients were presented with vertical diplopia and head tilt posture after head trauma. The subjects fulfilled the three-step test criteria, with a hypertropia that worsened on side gaze and head tilt away from the affected eye. They showed free forced duction to elevation in adduction. Both were treated by ipsilateral superior oblique tenotomy and contralateral superior rectus recession with adjustable suture technique. RESULTS: During postoperative 7 month observation, both patients demonstrated orthophoria in primary gaze. Our surgical procedures eliminated the diplopia and abnormal head tilt posture, thereby achieving satisfactory results.
Adult
;
Craniocerebral Trauma
;
Diplopia
;
Head
;
Humans
;
Paralysis*
;
Posture
;
Strabismus
;
Suture Techniques
;
Tenotomy
2.A Case of Pulmonary Embolism Due to Metastatic Chondrosarcoma.
Duck Hyun JANG ; Rak Kyeong CHOI ; Eokewn HAM ; Won Heum SIM ; Myung Joon CHAE ; Soo Youn LEE ; Jooyong HYUN
Korean Journal of Medicine 2013;84(1):96-100
Acute pulmonary embolism is considered a cardiovascular emergency and is one of the most important causes of morbidity and mortality in hospitalized patients. Tumor embolism is a rare and unique complication of malignancies, and detached thrombi or tumors may cause massive pulmonary embolism in patients with malignancies. The identification of the type of pulmonary embolism is critical because treatment and prognosis vary considerably. We report an unusual presentation of a tumor embolism that was misdiagnosed as a pulmonary thromboembolism in a young woman. The patient was initially treated with the anti-coagulants warfarin and aspirin, but her symptoms were aggravated after two months and she required emergency surgery. Histology revealed a pulmonary embolism due to metastatic chondrosarcoma. Following surgery, her condition deteriorated, and she did not survive. This case highlights the need to investigate the cause of pulmonary embolism should the patient not respond to anti-coagulatant therapy.
Aspirin
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Chondrosarcoma
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Emergencies
;
Female
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Humans
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Neoplasm Metastasis
;
Neoplastic Cells, Circulating
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Prognosis
;
Pulmonary Embolism
;
Warfarin
3.Identification of Novel Genetic Variants Related to Trabecular Bone Score in Community-Dwelling Older Adults
Sung Hye KONG ; Ji Won YOON ; Jung Hee KIM ; JooYong PARK ; Jiyeob CHOI ; Ji Hyun LEE ; A Ram HONG ; Nam H. CHO ; Chan Soo SHIN
Endocrinology and Metabolism 2020;35(4):801-810
Background:
As the genetic variants of trabecular bone microarchitecture are not well-understood, we performed a genome-wide association study to identify genetic determinants of bone microarchitecture analyzed by trabecular bone score (TBS).
Methods:
TBS-associated genes were discovered in the Ansung cohort (discovery cohort), a community-based rural cohort in Korea, and then validated in the Gene-Environment Interaction and Phenotype (GENIE) cohort (validation cohort), consisting of subjects who underwent health check-up programs. In the discovery cohort, 2,451 participants were investigated for 1.42 million genotyped and imputed markers.
Results:
In the validation cohort, identified as significant variants were evaluated in 2,733 participants. An intronic variant in iroquois homeobox 3 (IRX3), rs1815994, was significantly associated with TBS in men (P=3.74E-05 in the discovery cohort, P=0.027 in the validation cohort). Another intronic variant in mitogen-activated protein kinase kinase 5 (MAP2K5), rs11630730, was significantly associated with TBS in women (P=3.05E-09 in the discovery cohort, P=0.041 in the validation cohort). Men with the rs1815994 variant and women with the rs11630730 variant had lower TBS and lumbar spine bone mineral density. The detrimental effects of the rs1815994 variant in men and rs11630730 variant in women were also identified in association analysis (β=–0.0281, β=–0.0465, respectively).
Conclusion
In this study, the rs1815994 near IRX3 in men and rs11630730 near MAP2K5 in women were associated with deterioration of the bone microarchitecture. It is the first study to determine the association of genetic variants with TBS. Further studies are needed to confirm our findings and identify additional variants contributing to the trabecular bone microarchitecture.
4.Genetic Predisposition of Polymorphisms in HMGB1-Related Genes to Breast Cancer Prognosis in Korean Women.
Junsu LEE ; Jaesung CHOI ; Seokang CHUNG ; JooYong PARK ; Ji Eun KIM ; Hyuna SUNG ; Wonshik HAN ; Jong Won LEE ; Sue K PARK ; Mi Kyung KIM ; Sei Hyun AHN ; Dong Young NOH ; Keun Young YOO ; Daehee KANG ; Ji Yeob CHOI
Journal of Breast Cancer 2017;20(1):27-34
PURPOSE: The high mobility group box 1 (HMGB1) protein has roles in apoptosis and immune responses by acting as a ligand for receptor for advanced glycation end products (RAGE), Toll-like receptors (TLRs), and triggering receptor expressed on myeloid cells 1. In particular, HMGB1/RAGE is involved in tumor metastasis by inducing matrix metalloproteinase 2 (MMP2) and MMP9 expression. We investigated the associations between genetic variations in HMGB1-related genes and disease-free survival (DFS) and overall survival (OS) in Korean female breast cancer patients. METHODS: A total of 2,027 patients in the Seoul Breast Cancer Study were included in the analysis. One hundred sixteen single nucleotide polymorphisms (SNPs) were extracted from eight genes. A multivariate Cox proportional hazards model was used to estimate the hazard ratio and 95% confidence interval (CI) of each SNP. The effects of the SNPs on breast cancer prognosis were assessed at cumulative levels with polygenic risk scores. RESULTS: The SNPs significantly associated with DFS were rs243867 (hazard ratio, 1.26; 95% CI, 1.05–1.50) and rs243842 (hazard ratio, 1.24; 95% CI, 1.03–1.50); both SNPs were in MMP2. The SNPs significantly associated with OS were rs243842 in MMP2 (hazard ratio, 1.33; 95% CI 1.03–1.71), rs4145277 in HMGB1 (hazard ratio, 1.29; 95% CI, 1.00–1.66), rs7656411 in TLR2 (hazard ratio, 0.76; 95% CI, 0.60–0.98), and rs7045953 in TLR4 (hazard ratio, 0.50; 95% CI, 0.29–0.84). The polygenic risk score results for the DFS and OS patients showed third tertile hazard ratios of 1.72 (95% CI, 1.27–2.34) and 2.75 (95% CI, 1.79–4.23), respectively, over their first tertile references. CONCLUSION: The results of the present study indicate that genetic polymorphisms in HMGB1-related genes are related to breast cancer prognosis in Korean women.
Advanced Glycosylation End Product-Specific Receptor
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Apoptosis
;
Breast Neoplasms*
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Breast*
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Disease-Free Survival
;
Female
;
Genetic Predisposition to Disease*
;
Genetic Variation
;
HMGB1 Protein
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Humans
;
Matrix Metalloproteinase 2
;
Myeloid Cells
;
Neoplasm Metastasis
;
Polymorphism, Genetic
;
Polymorphism, Single Nucleotide
;
Prognosis*
;
Proportional Hazards Models
;
Seoul
;
Toll-Like Receptors