Chiu, Harold Henrison C.;Sucaldito, Ma. Sergia Fatima P.;Maceda, Ebner Bon G.;Montemayor, Jan Andre S.;Tamondong-Lachica, Diana R.
Journal of Genetic Medicine
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v.17
no.1
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pp.39-42
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2020
The Senior-Loken syndrome was first described in 1961 as an oculo-renal disease consisting of familial juvenile nephronophthisis and Leber congenital amaurosis. It is a rare autosomal recessive disorder with a prevalence of 1:1,000,000 caused by mutations in nine genes (NPHP 1-8 and NPHP 10). Ocular manifestations (e.g., photophobia, nystagmus, and extreme hyperopia) occur within the first few years of life while renal manifestations (e.g., formation of multiple cysts impairing kidney function and end-stage renal disease) appear in late childhood to adolescence. Here, we report a case of a Filipino male presenting with rotatory nystagmus and progressive deterioration of vision since childhood. He had congenital amaurosis and juvenile nephronophthisis that progressed to end stage renal disease by age 19. All laboratory and imaging findings were consistent with chronic kidney disease. Molecular genetic testing of ciliopathy-related genes was performed revealing a homozygous mutation in exon 11 of the IQCB1/NPHP5 gene, c.1090C>T (p.Arg364⁎). This sequence change created a premature translational stop signal resulting in a truncated protein product, nephrocystin-5 and its consequent loss of function. His symptoms eventually improved with initiation dialysis. The prognosis of Senior-Loken syndrome remains dismal and a high index of suspicion, early diagnosis and timely intervention of renal complications are warranted.
Purpose: This master‘s thesis to evaluate the grade of life after medication a Dangguijakyak-san(pasabu) and Gyejibongnyeong-hwan(cheongwal) with in postmenopausal women get lowering quality of life caused by vasomotor symptoms with hot flush. Methods: A subject who signing on the clinical trial written consent by self-will is registered this clinical trial after decided suitable by selection and exception standard, after take a medical experiment and checkup according to clinical trial plan. Registered subject should valuated by settled schedule after take the testing medicine 1,2 during thirty-day. In this period, a subject allocated at relatively better suited experimental group by oriental doctor after consideration of general efficacy and nature of a medicine at second visiting. Results: The result of comparison in the remedial value with sixteen patients who ended the experiment is like next list. 1. There's no regarded difference of comparison in general conditions between two patient groups. 2. There's no regarded difference during observation period before take medicine. 3. By period of measurement, there's something regarded differences most of patients of two parts after taking medicine. 4. There's no regarded difference at alteration phase of each standard according to kind of medicine. 5. There's no abnormal views reflected at allergy, Laboratory and Physical Examination during experiment. Conclusion: This experiment evidence a Dangguijakyak-san and Gyejibongnyeong-hwan can help for improvement generally life quality of postmenopausal women and certify safety of herbs.
Lim, Jaekwan;Won, Jong Yun;Ahn, Chi Bum;Kim, Jieon;Kim, Hee Jung;Jung, Jae Seung
Journal of Chest Surgery
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v.54
no.2
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pp.81-87
/
2021
Background: Artificial grafts such as polyethylene terephthalate (Dacron) and expanded polytetrafluoroethylene (ePTFE) are used for various cardiovascular surgical procedures. The compliance properties of prosthetic grafts could affect hemodynamic energy, which can be measured using the energy-equivalent pressure (EEP) and surplus hemodynamic energy (SHE). We investigated changes in the hemodynamic energy of prosthetic grafts. Methods: In a simulation test, the changes in EEP for these grafts were estimated using COMSOL MULTIPHYSICS. The Young modulus, Poisson ratio, and density were used to analyze the grafts' material properties, and pre- and post-graft EEP values were obtained by computing the product of the pressure and velocity. In an in vivo study, Dacron and ePTFE grafts were anastomosed in an end-to-side fashion on the descending thoracic aorta of swine. The pulsatile pump flow was fixed at 2 L/min. Real-time flow and pressure were measured at the distal part of each graft, while clamping the other graft and the descending thoracic aorta. EEP and SHE were calculated and compared. Results: In the simulation test, the mean arterial pressure decreased by 39% for all simulations. EEP decreased by 42% for both grafts, and by around 55% for the native blood vessels after grafting. The in vivo test showed no significant difference between both grafts in terms of EEP and SHE. Conclusion: The post-graft hemodynamic energy was not different between the Dacron and ePTFE grafts. Artificial grafts are less compliant than native blood vessels; however, they can deliver pulsatile blood flow and hemodynamic energy without any significant energy loss.
Yeonsu Oh;Dongseob Tark;Gwang-Seon Ryoo;Dae-Sung Yoo;Woo, H. Kim;Won-Il Kim;Choi-Kyu Park;Won-Keun Kim;Ho-Seong Cho
Korean Journal of Veterinary Service
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v.46
no.4
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pp.293-302
/
2023
This study provides a comprehensive analysis of the epidemiological trends and challenges in managing tuberculosis (TB) in livestock in Korea from 2013 to 2022. Tuberculosis, caused by the Mycobacterium tuberculosis complex, is a significant zoonotic disease affecting cattle, deer, and other domesticated animals. Despite the initiation of a test-and-slaughter eradication policy in 1964, TB has continued to persist in Korean livestock, particularly in cattle and deer. This study used data from the Korea Animal Health Integrated System and provincial animal health laboratories to analyze TB incidence in various livestock including different cattle breeds and deer species. The results from 2013 to 2022 showed a peak in TB cases in 2019 with a subsequent decline by 2022. The study highlighted a significant incidence of TB in Korean native cattle and the need for amore inclusive approach towards TB testing and control in different cattle breeds. Additionally, the study underscored the importance of addressing TB in other animals such as goats, wildlife, and companion animals for a holistic approach to TB eradication in Korea. The findings suggest that while the test-and-slaughter strategy has been historically effective, there is a need for adaptation to the current challenges, and learning from successful eradiation stories on other countries like Australia. A collaborative effort involving an expanded surveillance system, active private sector participation, and robust government support essential for the efficient eradication of TB in livestock in Korea.
Kim, Kyung Min;Park, Ji Young;Park, Kyoung Un;Sohn, Young Joo;Choi, Youn Young;Han, Mi Seon;Choi, Eun Hwa
Pediatric Infection and Vaccine
/
v.28
no.2
/
pp.92-100
/
2021
Purpose: Rapid detection of etiologic organisms is crucial for initiating appropriate therapy in patients with central nervous system (CNS) infection. This study aimed to evaluate the diagnostic value of the BioFire® Meningitis/Encephalitis (ME) panel in detecting etiologic organisms in cerebrospinal fluid (CSF) samples from febrile infants. Methods: CSF samples from infants aged <90 days who were evaluated for fever were collected between January 2016 and July 2019 at the Seoul National University Children's Hospital. We performed BioFire® ME panel testing of CSF samples that had been used for CSF analysis and conventional tests (bacterial culture, Xpert® enterovirus assay, and herpes simplex virus-1 and -2 polymerase chain reaction) and stored at -70℃ until further use. Results: In total, 72 (24 pathogen-identified and 48 pathogen-unidentified) CSF samples were included. Using BioFire® ME panel testing, 41 (85.4%) of the 48 pathogen-unidentified CSF samples yielded negative results and 22 (91.7%) of the 24 pathogen-identified CSF samples yielded the same results (enterovirus in 19, Streptococcus agalactiae in 2, and Streptococcus pneumoniae in 1) as those obtained using the conventional tests, thereby resulting in an overall agreement of 87.5% (63/72). Six of the 7 pathogen-unidentified samples were positive for human parechovirus (HPeV) via BioFire® ME panel testing. Conclusions: Compared with the currently available etiologic tests for CNS infection, BioFire® ME panel testing demonstrated a high agreement score for pathogen-identified samples and enabled HPeV detection in young infants. The clinical utility and cost-effectiveness of BioFire® ME panel testing in children must be evaluated for its wider application.
Park, Jun Hyeong;Kim, Min Chae;Kang, Jin Han;Choi, Jae Won;Lee, Hak Sung;Shin, Ju Hwa;Lee, Je Chul;Ma, Sang Hyuk
Pediatric Infection and Vaccine
/
v.26
no.1
/
pp.42-50
/
2019
Purpose: We investigated the clinical features and epidemiology of staphylococcal scalded skin syndrome (SSSS) from year 2006 to 2015 in Changwon city, Korea. Methods: We reviewed medical records of 69 patients diagnosed with SSSS from year 2006 to 2015. Antibiotic susceptibility testing was performed by agar dilution method. Methicillinresistant Staphylococcus aureus (MRSA) was phenotypically identified by oxacillin susceptibility testing and genotypically confirmed by the existence of the mecA gene. Results: The median age of patients was 2.0 years (range 0.2-6 years). Three (4.3%), 53 (76.8%), and 13 (18.9%) patients showed the generalized type, the intermediate type, and the abortive type, respectively. Patients occurred throughout the year, but most patients occurred between July and October. MRSA was isolated from 54 of the 60 patients regardless of the clinical types. All patients recovered without any complications. Conclusions: There was a constant occurrence of SSSS patients caused by MRSA in Changwon area during 2006 and 2015. It is needed to constantly monitor the occurrence of patients with SSSS.
Kim, Hyunwook;Baek, Jung Eun;Seo, Hye Kyung;Lee, Jong-Eun;Myong, Jun-Pyo;Lee, Seung-Joo;Lee, Jin-Ho
Journal of Korean Society of Occupational and Environmental Hygiene
/
v.24
no.4
/
pp.528-535
/
2014
Objectives: This study compares the differences of fit factors before and after training on the N95 mask. The results will be utilized to suggest the need of providing effective training on respirator use. Methods: A total of 49 study subjects were tested, comprised of nurses from a general hospital and undergraduate nursing students from a medical school. Anthropometric measurements of face length and face width were compared with the NIOSH(National Institute for Occupational Safety and Health) panel. Fit factors(FF) were measured with TSI Portacount Pro+8038 before and after on-site training regarding the proper use of respirators. The FF pass/fail criterion was set at 100. Results: Two subjects(4.1 %) passed the fit test before training on use of the N95. However, 36(73.5%) of the 49 passed the test after training. Overall the FF(GM(GSD)) was 13.4(3.2) before training, but improved to 106.6(2.1) after training, which was statistically significant. These findings suggest the efficacy of educational intervention, and the performance of the direct on-site training proved to be better than that of the traditional educational methods. Conclusions: This study showed the effect of on-site training of the N95 respirator among health care workers(HCW). Therefore, providing effective training on the use of N95 for HCWs before their work assignments will greatly reduce exposure to harmful agents. It is recommended that fit testing be mandated to check for adequate protection being provided by the given respirators.
Kwon, Jae-Cheol;Chang, Hye Young;Kwon, Oh Young;Park, Ji Hoon;Oh, In Soo;Kim, Hyung Joon;Lee, Jun Hyung;Roh, Ha-Jung;Lee, Hyun Woong
Yonsei Medical Journal
/
v.59
no.9
/
pp.1072-1078
/
2018
Purpose: The Korean society has moved rapidly toward becoming a multicultural society. This study aimed to estimate the seroprevalence of hepatitis viruses and investigate hepatitis B virus (HBV) genotypic diversity in female marriage immigrants. Materials and Methods: Screening program was conducted at support centers for multicultural families in 21 administrative districts in Korea between July 2011 and January 2017. A total of 963 female marriage immigrants were included in this study. Blood samples were tested for hepatitis viral markers and HBV genotype. Results: Subjects' median age was 33 years (20-40 years), and they originated from nine countries including Vietnam (n=422, 43.8%), China (n=311, 32.3%), the Philippines (n=85, 8.8%), Cambodia (n=58, 6.0%), and Japan (n=39, 4.0%). About 30% (n=288) of subjects required hepatitis A vaccination. HBsAg positive rate was 5.4% (n=52). Positive HBsAg results were the highest in subjects from Southeast Asia (6.6%, n=38). Anti-HBs positive rate was 60.4% (n=582). About 34% (n=329) of subjects who were negative for anti-HBs and HBsAg required HBV vaccinations. Genotypes B and C were found in 54.6% (n=12) and 45.4% (n=10) of the 22 subjects with HBV, in whom genotypes were tested. Eight (0.8%) subjects were positive for anti-HCV. Positive anti-HCV results were the highest in subjects from Central Asia (7.9%, n=3). Conclusion: Testing for hepatitis viral marker (hepatitis A virus IgG and HBsAg/anti-HBs) is needed for female marriage immigrants. Especially, HBV genotype B is different from genotype C of Koreans. Therefore, interest and attention to vaccination programs for female marriage immigrants are necessary for both clinicians and public health institutes.
Kim, Min-Sun;Park, Esther;Song, Ari;Im, Minji;Park, Hyung-Doo;Cho, Sung Yoon;Jin, Dong-Kyu
Journal of The Korean Society of Inherited Metabolic disease
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v.18
no.3
/
pp.99-106
/
2018
Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.
In this paper, we propose an DAP system for dose evaluation of medical and industrial X-ray generator. Based on the DAP measurement technique using the Ion-Chamber, the proposed system can clearly measure the exposure radiation dose generated by the diagnostic X-ray apparatus. The hardware part of the DAP measures the amount of charge in the air that is captured by an X-ray. The high-speed processing algorithm part for cumulative radiation dose measurement through microcurrent measures the amount of charge captured by X-ray at a low implementation cost (power) with no input loss. The wired/wireless transmission/reception protocol part synchronized with the operation of the X-ray generator improves communication speed. The PC-based control program part for interlocking and aging measures the amount of X-ray generated in real time and enables measurement graphs and numerical value monitoring through PC GUI. As a result of evaluating the performance of the proposed system in an accredited testing laboratory, the measured values using DAP increased linearly in each energy band (30, 60, 100, 150 kV). In addition, since the standard deviation of the measured value at the point of 4 division was ${\pm}1.25%$, it was confirmed that the DAP showed uniform measurements regardless of location. It was confirmed that the normal operation was not less than ${\pm}4.2%$ of the international standard.
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