• Asian Pacific Journal of Cancer Prevention
• /
• 제15권19호
• /
• pp.8319-8324
• /
• 2014

Although genetic markers identifying women at an increased risk of developing breast cancer exist, the majority of inherited risk factors remain elusive. Mutations in the BRCA1/BRCA2 gene confer a substantial increase in breast cancer risk, yet routine clinical genetic screening is limited to the coding regions and intronexon boundaries, precluding the identification of mutations in noncoding and untranslated regions. Because 3' untranslated region (3'UTR) polymorphisms disrupting microRNA (miRNA) binding can be functional and can act as genetic markers of cancer risk, we aimed to determine genetic variation in the 3'UTR of BRCA1/BRCA2 in familial and early-onset breast cancer patients with and without mutations in the coding regions of BRCA1/BRCA2 and to identify specific 3'UTR variants that may be risk factors for cancer development. The 3'UTRs of the BRCA1 and BRCA2 genes were screened by heteroduplex analysis and DNA sequencing in 100 patients from 46 BRCA1/2 families, 54 non-BRCA1/2 families, and 47 geographically matched controls. Two polymorphisms were identified. SNPs $c.^*1287C$ >T (rs12516) (BRCA1) and $c.^*105A$ >C (rs15869) (BRCA2) were identified in 27% and 24% of patients, respectively. These 2 variants were also identified in controls with no family history of cancer (23.4% and 23.4%, respectively). In comparison to variations in the 3'UTR region of the BRCA1/2 genes and the BRCA1/2 mutational status in patients, there was a statistically significant relationship between the BRCA1 gene polymorphism $c.^*1287C$ >T (rs12516) and BRCA1 mutations (p=0.035) by Fisher's Exact Test. SNP $c.^*1287C$ >T (rs12516) of the BRCA1 gene may have potential use as a genetic marker of an increased risk of developing breast cancer and likely represents a non-coding sequence variation in BRCA1 that impacts BRCA1 function and leads to increased early-onset and/or familial breast cancer risk in the Turkish population.

• 대한의용생체공학회:학술대회논문집
• /
• 대한의용생체공학회 1998년도 추계학술대회
• /
• pp.305-306
• /
• 1998

In this paper, we infer the onset of the brain infarction from the MR image using evaluate signal intensities on diffusion weighted and turbo spin echo T2-weighted and FLAIR images. Infarcts were divided into four stages (hyperacute, acute, subacute, chronic) depending on period of onset. DWI is useful for the detection of early ischemic infarct, and stages of ischemic infarctions can be estimated by evaluating CR(conspicuity ratio) and CNR(contrast to noise ratio) on DW, T2, FLAIR images Hyperacute infarcts were visualized DWI. Acute infarcts were visualialized both DWI and T2 Weighted image.

• 한국임상수의학회지
• /
• 제15권2호
• /
• pp.255-262
• /
• 1998

Lateral laminectomy was performed far spinal decompression in 7 thoracolumbar disc herniated dogs. These dogs showed upper motor neurologic signs including kyphosisi urinary dysfunction, and paraplegia or paralysis in hindlimbs. The lesions were evaluated with myelographic findings and predominated in $T_{12}-T_{13}, T_{13}-L_{1} and L_{1}-L_{2}$ discs. Five dogs which were operated within 48 hours after the onset of paraplegia were recovered from kyphosis and sustained the normal gait and walkings furthermore normal urination and defecation were presented within 3 days of postoperation. One dog was expired with steroid induced intestinal bleeding. The other dog operated on 96 hours after the onset of paraplegia was not recovered from neurologic deficits. Spinal decompression technique was considered to be useful method fur improving neurological problems resulted firom thoracolumbar disc herniation, if dogs are operated on early stage of the onset of paraplegia.

• Journal of Interdisciplinary Genomics
• /
• 제3권1호
• /
• pp.1-6
• /
• 2021

Maturity-onset diabetes of the young (MODY) is characterized by a heterogeneous group of monogenic diabetes. MODY has autosomal dominant inheritance, a primary defect in pancreatic β-cell, and an early onset. Discriminating MODY from type 1 or type 2 diabetes is often challenging at first. To date, 14 different disease causing mutations have been identified in MODY patients worldwide. Targeted DNA sequencing is the gold standard to diagnose MODY and their asymptomatic relatives. Next-generation sequencing may help successfully to diagnose MODY patients and identify new MODY genes. In this review, the current perspectives on diagnosis and treatment of MODY and discrepancy in the disease-causing mutations between the Asian and Caucasian patients with MODY are summarized.

• PNF and Movement
• /
• 제21권3호
• /
• pp.327-335
• /
• 2023

Purpose: Cerebellar injury can be caused by a variety of factors, including trauma, stroke, and tumor. Cerebellar injury can manifest in different clinical symptoms and signs depending on the size and location of the injury. The purpose of this study was to examine and compare the recovery patterns of each motor function by tracking the motor levels of patients with cerebellar injury. Methods: This study recruited 11 patients with quadriplegia resulting from cerebellar injury. The motricity index (MI), modified Brunnstrom classification (MBC), and functional ambulation category (FAC) methods were used to evaluate motor levels. The motor function evaluation was performed immediately after the onset of the condition and at intervals of one month, two months, and six months after onset. Results: The MI values of the upper and lower extremities and hand function (MBC) indicated severe paralysis in the early stages of onset. Compared to the onset time, significant motor function recovery was observed after 1, 2, and 6 months (p < 0.05). In contrast, there was no significant pattern of recovery between 1, 2, and 6 months after onset (p > 0.05). FAC indicated showed significant recovery at one month compared to onset (p<0.05), and there was also a significant difference between 1 and 2 months (p < 0.05). On the other hand, there was no significant difference in FAC between 2 and 6 months (p > 0.05). Conclusion: Patients with cerebellar injury showed significant recovery in functions related to muscle strength and voluntary muscle control one month after onset and gradually recovered further over the next six months. On the other hand, gait function, which is closely related to balance, showed a relatively slow recovery pattern from the beginning of the disease to the six month follow-up.

• Clinical and Experimental Reproductive Medicine
• /
• 제46권4호
• /
• pp.206-210
• /
• 2019

Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular lysosomes. The phenotype, age of onset, and symptoms of MPS II vary; accordingly, the disease can be classified into either the early-onset type or the late-onset type, depending on the age of onset and the severity of the symptoms. In patients with severe MPS II, symptoms typically first appear between 2 and 5 years of age. Patients with severe MPS II usually die in the second decade of life although some patients with less severe disease have survived into their fifth or sixth decade. Here, we report the establishment of a preimplantation genetic diagnosis (PGD) strategy using multiplex nested polymerase chain reaction, direct sequencing, and linkage analysis. Unaffected embryos were selected via the diagnosis of a single blastomere, and a healthy boy was delivered by a female carrier of MPS II. This is the first successful application of PGD in a patient with MPS II in Korea.

• Macromolecular Research
• /
• 제11권4호
• /
• pp.267-272
• /
• 2003

The isothermal cure reactions of blends of epoxy (DGEBA, diglycidyl ether of bisphenol A)/anhydride resin with polyamide copolymer (poly(dimmer acid-co-alkyl polyamine)) or PEI were studied using differential scanning calorimetry (DSC). Rheological measurements have been made to investigate the viscosity and mechanical relaxation behavior of the blends. The reaction rate and the final cure conversion were decreased with increasing the amount of thermoplastics in the blends. Lower values of final cure conversions in the epoxy/thermoplastic blends indicate that thermoplastics hinder the cure reaction between the epoxy and the curing agent. Complete miscibility was observed in the uncured blends of epoxy/thermoplastics up to $120^{\circ}C$ but phase separations occurred in the early stages of the curing process at higher temperatures than $120^{\circ}C$. According to the rheological measurement results, a rise of G' and G" at the onset of phase separation is seen. A rise of G' and G" is not observed for neat epoxy system since no phase separation is seen during cure reaction. At the onset of phase separation the rheological behavior was influenced by the amount of thermoplastics in the epoxy/thermoplastic blends, and the onset of phase separation can be detected by rheological measurements.

• Journal of Trauma and Injury
• /
• 제20권2호
• /
• pp.57-64
• /
• 2007

Purpose: Clinically, acute respiratory distress syndrome (ARDS) occurs within 72 hours after acute exposure of risk factors. Because of its high fatality rate once ARDS progresses, early detection and management are essential to reduce the mortality rate. Accordingly, studies on early changes of ARDS were started, and serum ferritin, as well the as injury severity score (ISS), which has been addressed in previous studies, thought to be an early predictive indicator for ARDSMethods: From March 2003 to March 2005, we investigated 50 trauma patients who were admitted to the intensive care unit in Dongguk University Medical Center, Gyeongju. The patients were characterized according to age, sex, ISS, onset of ARDS, time onset of ARDS, serum ferritin level (posttraumatic $1^{st}\;&\;2^{nd}$ day), amount of transfused blood, and death. Abdominal computed topography was performed as an early diagnostic tool to evaluate the onset of ARDS according to its diagnostic criteria. The serum ferritin was measured by using a $VIDAS^{(R)}$ Ferritin (bioMeriux, Marcy-1' Etoile, France) kit with an enzyme-linked fluorescent assay method. For statistical analysis, Windows SPSS 13.0 and MedCalc were used to confirm the probability of obtaining a predictive measure from the receiver operating characteristics (ROC) curve. Results: The ISS varied from 14 to 66 (mean: 33.8) whereas the onset of ARDS could be predicted with the score above 30 (sensitivity: 90.0%, specificity: 60.0%, p<0.05). On the posttraumatic $1^{st}$ day, the serum ferritin levels were measured to be from 31 mg/dL to 1,200 mg/dL (mean: 456 mg/dL), and the onset of ARDS could be predicted when the value was over 340 mg/dL (sensitivity: 80.0%, specificity: 65.0%, p<0.05). On the posttraumatic $2^{nd}$ day, the serum ferritin levels were measured to be from 73 mg/dL to 1,200 mg/dL (mean: 404 mg/dL), and the onset of ARDS could be predicted when the value was over 627 mg/dL (sensitivity: 60.0%, specificity: 92.5%, p<0.05). The serum ferritin levels and the ISS were significantly higher on the posttraumatic $1^{st}$ and $2^{nd}$ day in the ARDS group, suggesting that they are suitable indices predicting the onset of ARDS, however relationship between the serum ferritin levels and the ISS was not statistically significant. Conclusion: In this study, we discovered increasing serum ferritin levels in multiple- trauma patients on the posttraumatic $1^{st}$ & $2^{nd}$ day and concluded that both the serum ferritin level and the ISS were good predictors of ARDS. Although they do not show statistically significant relationship to each other, they can be used as independent predictive measures for ARDS. Since ARDS causes high mortality, further studies, including the types of surgery and the methods of anesthesia on a large number of patients are essential to predict the chance of ARDS earlier and to reduce the incidence of death.

• 대한치매학회지
• /
• 제17권4호
• /
• pp.174-175
• /
• 2018

• Clinical and Experimental Pediatrics
• /
• 제64권1호
• /
• pp.44-45
• /
• 2021