Yonsei medical journal
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Yonsei medical journal · Feb 2023
Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study.
To examine the refractive errors, retinal manifestations, and genotype in tuberous sclerosis complex (TSC) patients in a Korean population. ⋯ TSC1 variant patients were more myopic, while TSC2 variant patients showed association with more extensive involvement of retinal astrocytic hamartoma.
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Yonsei medical journal · Feb 2023
Case ReportsGiant Coronary Artery Aneurysm with Thrombosis Complicated in a Patient with Idiopathic Hypereosinophilic Syndrome.
Idiopathic hypereosinophilic syndrome (iHES) is a rare systemic disease that is characterized by persistent peripheral eosinophilia (absolute eosinophil count ≥1500/uL) for more than 6 months, with end-organ damage and absence of a primary cause for eosinophilia. Coronary artery aneurysm (CAA) is a rare but life-threatening complication. Here, we report a case of CAA with thrombosis in a patient with iHES in whom the disease activity was well-controlled (eosinophil count <500/uL) for several years. Despite modest control of the disease activity, giant CAA can be associated with iHES; and therefore, close surveillance and monitoring for the development of complications is warranted.
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Yonsei medical journal · Feb 2023
Relieving Anxiety Through Virtual Reality Prior to Endoscopic Procedures.
Endoscopic procedures can cause anxiety, which can lead to more uncomfortable, difficult, and incomplete procedures, in addition to greater use of sedative medication. Here, we investigate whether exposing patients to virtual reality (VR) prior to endoscopic procedures can reduce their anxiety levels. ⋯ VR exposure may relieve patients' anxiety levels prior to endoscopic procedures, but further well-designed placebo-controlled studies are needed. VR, an inexpensive, easily available, and non-invasive method, also improved the satisfaction with sedation of endoscopic procedures.
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Yonsei medical journal · Feb 2023
Selective Inhibition of PI3K Isoforms in Brain Tumors Suppresses Tumor Growth by Increasing Radiosensitivity.
Glioblastoma (GBM) is a malignant brain tumor with poor prognosis. Radioresistance is a major challenge in the treatment of brain tumors. The development of several types of tumors, including GBM, involves the phosphoinositide 3-kinase (PI3K)/protein kinase B (AKT) signaling pathway. Upon activation, this pathway induces radioresistance. In this study, we investigated whether additional use of selective inhibitors of PI3K isoforms would enhance radiosensitivity in GBM. ⋯ This study verified that PI3K-α isoform inhibition improves radiosensitivity, resulting in tumor growth suppression and extended survival in GBM mice.
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Yonsei medical journal · Feb 2023
ReviewDiagnosis and Treatment of Monogenic Hypertension in Children.
Although the majority of individuals with hypertension (HTN) have primary and polygenic HTN, monogenic HTN is a secondary type that is widely thought to play a key role in pediatric HTN, which has the characteristics of early onset, refractory HTN with a positive family history, and electrolyte disorders. Monogenic HTN results from single genetic mutations that contribute to the dysregulation of blood pressure (BP) in the kidneys and adrenal glands. It is pathophysiologically associated with increased sodium reabsorption in the distal tubule, intravascular volume expansion, and HTN, as well as low renin and varying aldosterone levels. ⋯ Discovering the genetic factors that cause an increase in BP has been shown to be related to the choice of and responses to antihypertensive medications. Therefore, early and precise diagnosis with genetic sequencing and effective treatment with accurate antihypertensive agents are critical in the management of monogenic HTN. In addition, understanding the genetic architecture of BP, causative molecular pathways perturbing BP regulation, and pharmacogenomics can help with the selection of precision and personalized medicine, as well as improve morbidity and mortality in adulthood.