Recently, there have been many studies in medicine related to genetic analysis. Many genetic studies have been performed to find genes associated with complex diseases. To find out how genes are related to disease, we need to understand not only the simple relationship of genotypes but also the way they are related to phenotype. Multi-block data, which is a summation form of variable sets, is used for enhancing the analysis of the relationships of different blocks. By identifying relationships through a multi-block data form, we can understand the association between the blocks in comprehending the correlation between them. Several statistical analysis methods have been developed to understand the relationship between multi-block data. In this paper, we will use generalized canonical correlation methodology to analyze multi-block data from the Korean Association Resource project, which has a combination of single nucleotide polymorphism blocks, phenotype blocks, and disease blocks.
Genome-Wide Association Study ; Genotype ; Phenotype ; Polymorphism, Single Nucleotide

PURPOSE: To report a patient with Coats' disease who presented with a premacular membrane that was peeled off after laser photocoagulation. CASE SUMMARY: A 17-year-old male presented with decreased visual acuity of the right eye, and showed serous elevation, subretinal hemorrhage, telangiectasis and thick premacular membrane upon fundus examination. Upon diagnosis with Coats' disease, the telangiectatic area was treated with argon laser photocoagulation. Two weeks later, the premacular membrane was peeled off spontaneously and the decrease of macular thickness was verified by optical coherence tomography (OCT). The patient's visual acuity was improved to 1.0. CONCLUSIONS: The visual acuity of the patient with Coats' disease was improved by spontaneous peeling of the premacular membrane after photocoagulation.
Adolescent ; Argon ; Eye ; Hemorrhage ; Humans ; Light Coagulation ; Male ; Membranes ; Telangiectasis ; Tomography, Optical Coherence ; Visual Acuity

Objective: We evaluated the efficacy of the newly developed optimized in vitro culture (OIVC) dish for cultivating preimplantation mouse embryos. This dish minimizes the need for mineral oil and incorporates microwells, providing a stable culture environment and enabling independent monitoring of individual embryos. Methods: Mouse pronuclear (PN) zygotes and two-cell-stage embryos were collected at 18 and 46 hours after human chorionic gonadotropin injection, respectively. These were cultured for 120 hours using potassium simplex optimized medium (KSOM) to reach the blastocyst stage. The embryos were randomly allocated into three groups, each cultured in one of three dishes: a 60-mm culture dish, a microdrop dish, and an OIVC dish that we developed. Results: The OIVC dish effectively maintained the osmolarity of the KSOM culture medium over a 5-day period using only 2 mL of mineral oil. This contrasts with the significant osmolarity increase observed in the 60-mm culture dish. Additionally, the OIVC dish exhibited higher blastulation rates from two-cell embryos (100%) relative to the other dish types. Moreover, blastocysts derived from both PN zygotes and two-cell embryos in the OIVC dish group demonstrated significantly elevated mean cell numbers. Conclusion Use of the OIVC dish markedly increased the number of cells in blastocysts derived from the in vitro culture of preimplantation mouse embryos. The capacity of this dish to maintain medium osmolarity with minimal mineral oil usage represents a breakthrough that may advance embryo culture techniques for various mammals, including human in vitro fertilization and embryo transfer programs.

Monospermy occurs in the process of normal fertilization where a single sperm fuses with the egg, resulting in the formation of a diploid zygote. During the process of fertilization, the sperm must penetrate the zona pellucida (ZP), the outer layer of the egg, to reach the egg’s plasma membrane. Once a sperm binds to the ZP, it undergoes an acrosomal reaction, which involves the release of enzymes from the sperm’s acrosome that help it to penetrate the ZP. Ovastacin is one of the enzymes that is involved in breaking down the ZP. Studies have shown that ovastacin is necessary for the breakdown of the ZP and for successful fertilization to occur. However, the activity of ovastacin is tightly regulated to ensure that only one sperm can fertilize the egg. One way in which ovastacin helps to prevent polyspermy (the fertilization of an egg by more than one sperm) is by rapidly degrading the ZP after a sperm has penetrated it. This makes it difficult for additional sperm to penetrate the ZP and fertilize the egg. Ovastacin is also thought to play a role in the block to polyspermy, a mechanism that prevents additional sperm from fusing with the egg’s plasma membrane after fertilization has occurred. In summary, the role of ovastacin in monospermic fertilization is to help ensure that only one sperm can fertilize the egg, while preventing polyspermy and ensuring successful fertilization.

Background: and PurposeInterhospital transfer is an essential practical component of regional stroke care systems. To establish an effective stroke transfer network in South Korea, an interactive transfer system was constructed, and its workflow metrics were observed. Methods: In March 2019, a direct transfer system between primary stroke hospitals (PSHs) and comprehensive regional stroke centers (CSCs) was established to standardize the clinical pathway of imaging, recanalization therapy, transfer decisions, and exclusive transfer linkage systems in the two types of centers. In an active case, the time metrics from arrival at PSH (“door”) to imaging was measured, and intravenous thrombolysis (IVT) and endovascular treatment (EVT) were used to assess the differences in clinical situations. Results: The direct transfer system was used by 27 patients. They stayed at the PSH for a median duration of 72 min (interquartile range [IQR], 38–114 min), with a median times of 15 and 58 min for imaging and subsequent processing, respectively. The door-to-needle median times of subjects treated with IVT at PSHs (n=5) and CSCs (n=2) were 21 min (IQR, 20.0–22.0 min) and 137.5 min (IQR, 125.3–149.8 min), respectively. EVT was performed on seven subjects (25.9%) at CSCs, which took a median duration of 175 min; 77 min at the PSH, 48 min for transportation, and 50 min at the CSC. Before EVT, bridging IVT at the PSH did not significantly affect the door-to-puncture time (127 min vs. 143.5 min, p=0.86). Conclusions The direct and interactive transfer system is feasible in real-world practice in South Korea and presents merits in reducing the treatment delay by sharing information during transfer.

OBJECTIVE: The aim of this study was to identify the morphological and functional characteristics of quadricuspid aortic valves (QAV) on cardiac computed tomography (CCT). MATERIALS AND METHODS: We retrospectively enrolled 11 patients with QAV. All patients underwent CCT and transthoracic echocardiography (TTE), and 7 patients underwent cardiovascular magnetic resonance (CMR). The presence and classification of QAV assessed by CCT was compared with that of TTE and intraoperative findings. The regurgitant orifice area (ROA) measured by CCT was compared with severity of aortic regurgitation (AR) by TTE and the regurgitant fraction (RF) by CMR. RESULTS: All of the patients had AR; 9 had pure AR, 1 had combined aortic stenosis and regurgitation, and 1 had combined subaortic stenosis and regurgitation. Two patients had a subaortic fibrotic membrane and 1 of them showed a subaortic stenosis. One QAV was misdiagnosed as tricuspid aortic valve on TTE. In accordance with the Hurwitz and Robert's classification, consensus was reached on the QAV classification between the CCT and TTE findings in 7 of 10 patients. The patients were classified as type A (n = 1), type B (n = 3), type C (n = 1), type D (n = 4), and type F (n = 2) on CCT. A very high correlation existed between ROA by CCT and RF by CMR (r = 0.99) but a good correlation existed between ROA by CCT and regurgitant severity by TTE (r = 0.62). CONCLUSION: Cardiac computed tomography provides comprehensive anatomical and functional information about the QAV.
Aortic Valve Insufficiency ; Aortic Valve Stenosis ; Aortic Valve* ; Classification ; Consensus ; Constriction, Pathologic ; Echocardiography ; Humans ; Magnetic Resonance Imaging ; Membranes ; Multidetector Computed Tomography ; Retrospective Studies

PURPOSE: To identify altered patterns of retinal mRNA expression in a rat model of oxygen-induced retinopathy (OIR). METHODS: Sprague-Dawley rats from P2 to P14 were exposed to hyperoxia (80% oxygen) to induce OIR and then returned to normoxic conditions. Control rats were sustained in room air. Retinal gene expression between the rats of OIR and the controls was compared using cDNA microarray analysis. Reverse transcriptase polymerase chain reaction (RT-PCR) was used to verify the microarray results. RESULTS: Among a total of 12,731 cDNAs analyzed by mircroarray, 13 genes were strongly up- or down-regulated (>2-fold change over controls) in the OIR rats. We found a significant increase in expression of 10 genes (CaM-kinase II inhibitor; acidic nuclear phosphoprotein 32 family, member A; vascular endothelial growth factor; interferon alpha-inducible protein 27-like; similar to enthoprotin, epsin 4, clathrin interacting protein; nidogen [entactin]; tubulin, beta5; fibrillin-1; spectrin beta2; and stearoyl-coenzyme A desaturase 2) and a significant decrease in expression of 3 genes (myelin-associated oligodendrocytic basic protein, heat shock protein, and decorin) in OIR rats compared to controls. CONCLUSIONS: We confirmed changes in expressions of various retinal genes in a rat model of OIR by microarray and RT-PCR. This study should contribute to the understanding of genetic indicators associeated with OIR.
Animals ; Animals, Newborn ; Down-Regulation ; Gene Expression ; Microarray Analysis ; *Oxygen ; RNA, Messenger/*metabolism ; Rats ; Rats, Sprague-Dawley ; Retina/*metabolism ; Retinal Diseases/*chemically induced/*metabolism ; Reverse Transcriptase Polymerase Chain Reaction ; Up-Regulation

PURPOSE: To elucidate the clinical manifestations of cytomegalovirus (CMV) endotheliitis, and evaluate the outcomes of treatment in CMV endotheliitis. METHODS: We reviewed the medical records of 7 patients (8 eyes) who were diagnosed with CMV endotheliitis via a polymerase chain reaction (PCR) of aqueous humor and were treated with ganciclovir. RESULTS: Eight eyes of 7 patients were followed for a mean of 17.8 months. One patient had bilateral corneal endotheliitis. All eyes had coin-shaped keratoprecipitates and mild anterior chamber inflammation (1+~2+). All eyes had an absence of anterior segment inflammation 3 weeks after ganciclovir treatment. Following treatment, the mean visual acuity improved significantly from 0.60 ± 0.40 (log MAR) at baseline to 0.18 ± 0.18 (log MAR) at last follow-up. The mean intraocular pressure (IOP) decreased significantly from 30 mm Hg at baseline to 12 mm Hg at last visit. Two eyes had a recurrence of corneal endotheliitis, where one underwent penetrating keratoplasty and the other was treated with intravitreal ganciclovir injection. CONCLUSIONS: Patients with increased IOP and coin-shaped keratoprecipitates are suspected to have CMV endotheliitis, and PCR of aqueous humor is needed to diagnose CMV endotheliitis. More than 6 weeks of ganciclovir treatment might be effective for CMV endotheliitis and may help prevent recurrence.
Anterior Chamber ; Aqueous Humor ; Cytomegalovirus* ; Follow-Up Studies ; Ganciclovir ; Humans ; Inflammation ; Intraocular Pressure ; Keratoplasty, Penetrating ; Medical Records ; Polymerase Chain Reaction ; Recurrence ; Visual Acuity

PURPOSE: To elucidate the clinical manifestations of cytomegalovirus (CMV) endotheliitis, and evaluate the outcomes of treatment in CMV endotheliitis. METHODS: We reviewed the medical records of 7 patients (8 eyes) who were diagnosed with CMV endotheliitis via a polymerase chain reaction (PCR) of aqueous humor and were treated with ganciclovir. RESULTS: Eight eyes of 7 patients were followed for a mean of 17.8 months. One patient had bilateral corneal endotheliitis. All eyes had coin-shaped keratoprecipitates and mild anterior chamber inflammation (1+~2+). All eyes had an absence of anterior segment inflammation 3 weeks after ganciclovir treatment. Following treatment, the mean visual acuity improved significantly from 0.60 ± 0.40 (log MAR) at baseline to 0.18 ± 0.18 (log MAR) at last follow-up. The mean intraocular pressure (IOP) decreased significantly from 30 mm Hg at baseline to 12 mm Hg at last visit. Two eyes had a recurrence of corneal endotheliitis, where one underwent penetrating keratoplasty and the other was treated with intravitreal ganciclovir injection. CONCLUSIONS: Patients with increased IOP and coin-shaped keratoprecipitates are suspected to have CMV endotheliitis, and PCR of aqueous humor is needed to diagnose CMV endotheliitis. More than 6 weeks of ganciclovir treatment might be effective for CMV endotheliitis and may help prevent recurrence.
Anterior Chamber ; Aqueous Humor ; Cytomegalovirus* ; Follow-Up Studies ; Ganciclovir ; Humans ; Inflammation ; Intraocular Pressure ; Keratoplasty, Penetrating ; Medical Records ; Polymerase Chain Reaction ; Recurrence ; Visual Acuity

Background: Submental intubation is commonly used during general anesthesia for maxillofacial surgeries as it provides a safe unrestricted surgical access compared to tracheostomy. During submental intubation, soft tissues and blood clots can become lodged in the endotracheal tube. To overcome this problem, we used a laparoscopic trocar.Case: A 52-year-old man with maxillofacial injury was scheduled to undergo an open reduction and internal fixation. We performed submental intubation using laparoscopic trocar, which created sufficient space for the insertion of the endotracheal tube. Unlike conventional methods, our method did not require any blunt dissection and caused significantly less soft tissue damage and required significantly less time. Conclusions Submental intubation with laparoscopic trocar is a one-step method and is quick and easy-to-perform technique with less complications.