• Title/Summary/Keyword: Premature loss

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Clinical features of Senior-Loken syndrome with IQCB1/NPHP5 mutation in a Filipino man

  • 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.

Cost of Illness due to Maternal Disorders in Korea (우리나라 모성 관련 질환의 사회적 비용)

  • Cho, Bogeum;Lee, Sang-il;Jo, Min-Woo;Ahn, Jeonghoon;Oh, In-Hwan;Lee, Ye-Rin
    • The Journal of Health Technology Assessment
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    • v.6 no.2
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    • pp.123-132
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    • 2018
  • Objectives: Maternal morbidity and mortality are important healthcare issues. However there have been few studies on cost of illness (COI) from maternal disorders. This study aimed to estimate the COI due to maternal disorders in Korea. Methods: By reviewing previous studies and consulting expert we determined the scope of maternal disorders. We operationally defined maternal disorders as maternal hemorrhage, maternal sepsis, hypertensive disorders of pregnancy, obstructed labor, and abortion for maternal disorders. The reference period of this study is the year 2015. Main source of data were the National Health Insurance Service claims data, cause of death statistics from the Korea National Statistical Office, and the Korea Health Panel study. We classified the total costs into direct and indirect costs. The direct costs cover healthcare costs and non-healthcare costs. The indirect costs consist of productivity losses due to morbidity and premature death. Results: The cost of maternal disorders in 2015 was 229.7 billion won. The direct and indirect costs of maternal disorders were 165.2 billion won and 64.5 billion won respectively. The largest cost item for maternal disorders was healthcare cost (138.3 billion won, 60.2%). By age groups, the COI in 30-39 years old women were the highest (165.1 billion won, 71.9%). Abortion was the disorder with the highest COI among maternal disorders (71.9 billion won, 31.3%). Conclusion: The COI due to maternal disorders in Korea is quite substantial. Economic burden of maternal disorder increased when being compared with the year 2012 data despite the continued low birth rate in Korea. Therefore, it is necessary to continuously monitor the social costs of the maternal disorders in Korea.

Eruption Guidance of Distally Displaced Mandibular Second Premolar by the Hemisection of Primary Second Molar: Two Case Reports (선행 유치의 편측치아절제술에 의한 원심으로 변위된 하악 제2소구치의 맹출 유도)

  • Yongwook, Shin;Howon, Park;Juhyun, Lee
    • Journal of the korean academy of Pediatric Dentistry
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    • v.49 no.3
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    • pp.340-347
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    • 2022
  • Distal displacement of the tooth germ of the mandibular second premolar (MnP2) leads to its impaction and obturation of the eruption path of the mandibular first molar delaying its eruption. The present case report describes the treatment of 2 cases of eruption guidance for distally displaced developing MnP2 that caused delayed eruption of the mandibular first molar. Intentional extraction of primary predecessor results in the mesial shift of the displaced MnP2. However, unfavorable distal ectopic eruption of the mandibular first premolar after the premature loss of primary second molar has been previously reported. Hemisection and sequential extraction of the mandibular primary second molar were performed to mesially shift the distally displaced MnP2, while preventing unfavorable distal ectopic eruption of the mandibular first premolar.

Assessing the Effectiveness and Safety of Direct-acting Antiviral Treatment in Korean Patients with Hepatitis C Virus Genotype 1b or 2 at a Tertiary Care Hospital

  • Park, Mi Seon;Yang, Young-Mo;Park, Ki Hyun;Yoon, Hyonok;Kim, Ju Sin;Choi, Eun Joo
    • Korean Journal of Clinical Pharmacy
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    • v.32 no.3
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    • pp.191-203
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    • 2022
  • Background: Direct-acting antivirals are recommended for the treatment of chronic hepatitis C virus in Korea. However, evaluation of direct-acting antiviral regimens in a real-world setting is limited. The aims of this study were to investigate the effectiveness and safety of direct-acting antiviral treatment in Korean patients infected with chronic hepatitis C virus genotype 1b or 2 at a tertiary care hospital. Methods: This was a retrospective study conducted with patient data obtained between August 2015 and August 2019 at Jeonbuk National University Hospital. The primary effectiveness endpoint was sustained virological response 12 weeks post-treatment (SVR12) via intention-to-treat (ITT) and modified intention-to-treat (mITT) analyses. Results: Of the 270 patients, 47.0% were infected with genotype 1b and 53.0% with genotype 2. ITT analysis revealed that SVR12 was achieved in 78.9% of all patients, 77.2% in genotype 1b patients, and 80.4% in genotype 2 patients. Of the 21.1% of all patients who did not achieve SVR12, the majority of treatment failures were non-virologic failures (19.7%). mITT analysis revealed that SVR12 was achieved in 98.2% of all patients, 98.0% in genotype 1b patients, and 98.3% in genotype 2 patients. Almost half of all patients experienced one or more adverse events (43.3%), leading to 2.6% discontinuing scheduled treatment. The most common adverse event was anemia. Conclusions: Direct-acting antiviral-based treatment regimens showed high effectiveness and safety. Non-virological factors, such as premature treatment discontinuation due to adverse events or loss of follow-up, were the major disruptors in achieving SVR12.

An Improved Coyote Optimization Algorithm-Based Clustering for Extending Network Lifetime in Wireless Sensor Networks

  • Venkatesh Sivaprakasam;Vartika Kulshrestha;Godlin Atlas Lawrence Livingston;Senthilnathan Arumugam
    • KSII Transactions on Internet and Information Systems (TIIS)
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    • v.17 no.7
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    • pp.1873-1893
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    • 2023
  • The development of lightweight, low energy and small-sized sensors incorporated with the wireless networks has brought about a phenomenal growth of Wireless Sensor Networks (WSNs) in its different fields of applications. Moreover, the routing of data is crucial in a wide number of critical applications that includes ecosystem monitoring, military and disaster management. However, the time-delay, energy imbalance and minimized network lifetime are considered as the key problems faced during the process of data transmission. Furthermore, only when the functionality of cluster head selection is available in WSNs, it is possible to improve energy and network lifetime. Besides that, the task of cluster head selection is regarded as an NP-hard optimization problem that can be effectively modelled using hybrid metaheuristic approaches. Due to this reason, an Improved Coyote Optimization Algorithm-based Clustering Technique (ICOACT) is proposed for extending the lifetime for making efficient choices for cluster heads while maintaining a consistent balance between exploitation and exploration. The issue of premature convergence and its tendency of being trapped into the local optima in the Improved Coyote Optimization Algorithm (ICOA) through the selection of center solution is used for replacing the best solution in the search space during the clustering functionality. The simulation results of the proposed ICOACT confirmed its efficiency by increasing the number of alive nodes, the total number of clusters formed with the least amount of end-to-end delay and mean packet loss rate.

Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA

  • Un Yung Choi;Youn Jung Choi;Shin-Ae Lee;Ji-Seung Yoo
    • BMB Reports
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    • v.57 no.5
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    • pp.256-261
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    • 2024
  • In the context of aging, the susceptibility to infectious diseases increases, leading to heightened morbidity and mortality. This phenomenon, termed immunosenescence, is characterized by dysregulation in the aging immune system, including abnormal alterations in lymphocyte composition, elevated basal inflammation, and the accumulation of senescent T cells. Such changes contribute to increased autoimmune diseases, enhanced infection severity, and reduced responsiveness to vaccines. Utilizing aging animal models becomes imperative for a comprehensive understanding of immunosenescence, given the complexity of aging as a physiological process in living organisms. Our investigation focuses on Cisd2, a causative gene for Wolfram syndrome, to elucidate on immunosenescence. Cisd2 knockout (KO) mice, serving as a model for premature aging, exhibit a shortened lifespan with early onset of aging-related features, such as decreased bone density, hair loss, depigmentation, and optic nerve degeneration. Intriguingly, we found that the Cisd2 KO mice present a higher number of neutrophils in the blood; however, isolated neutrophils from these mice display functional defects. Through mass spectrometry analysis, we identified an interaction between Cisd2 and Calnexin, a protein known for its role in protein quality control. Beyond this function, Calnexin also regulates calcium homeostasis through interaction with sarcoendoplasmic reticulum calcium transport ATPase (SERCA). Our study proposes that Cisd2 modulates calcium homeostasis via its interaction with Calnexin and SERCA, consequently influencing neutrophil functions.

Study on the Recognition of Brucellosis for Rural Residents (일부 농촌지역 주민의 브루셀라증 인지도)

  • Lim, Hyun-Sul;Min, Young-Sun
    • Journal of agricultural medicine and community health
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    • v.30 no.1
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    • pp.51-62
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    • 2005
  • Objectives: This study was conducted to understand the recognition on brucellosis in rural communities and to apply the results to counterplan for brucellosis control and prevention. Methods: The authors conducted a questionnaire survey from September 8 to 13, 2004 among the residents in 2 rural communities: 507 people at Gigye-myeon and 521 people at Buk-myeon. The authors developed a questionnaire which investigated age, gender, general recognition of brucellosis, status of cattle breeding, compensation for loss due to brucellosis and so on. Results: The study group contained 195 (19.0%) stock breeders (veterinarians and cattle merchants were included) and 833 (81.0%) non-stock breeders. For the question, 'Have you ever heard about brucellosis or do you know about brucellosis?', 283 respondents (27.5%) replied affirmatively. For the question, 'Do you know that pregnant women who suffer brucellosis may have a miscarriage?', 98 respondents (35.1%) replied affirmatively. For the question, 'Have your cattle ever aborted or calved a premature calf?', 28 respondents (14.9%) replied affirmatively. For the question, 'Have you ever handled an abortus or a premature calf with your bare hands?', 10 respondents (5.3%) replied affirmatively. For the question, 'Do you know that the government compensates for slaughter loss due to brucellosis?', 46 respondents (25.0%) replied affirmatively. Conclusions: Many people were ignorant about brucellosis. Therefore, their ignorance must be corrected by a publicity campaign. Some stock breeders handled the cattle abortus with their bare hand. Stock breeders must wear protective equipment during working. The authors expect that this study will assist in establishing both a safe cattle breeding environment and preventive strategies for diminishing the incidence of brucellosis.

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Socioeconomic Costs of Stroke in Korea: Estimated from the Korea National Health Insurance Claims Database (건강보험 청구자료를 이용한 우리나라 뇌졸증 환자의 사회경제적 비용 추계)

  • Lim, Seung-Ji;Kim, Han-Joong;Nam, Chung-Mo;Chang, Hoo-Sun;Jang, Young-Hwa;Kim, Se-Ra;Kang, Hye-Young
    • Journal of Preventive Medicine and Public Health
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    • v.42 no.4
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    • pp.251-260
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    • 2009
  • Objectives : To estimate the annual socioeconomic costs of stroke in Korea in 2005 from a societal perspective. Methods : We identified those 20 years or older who had at least one national health insurance (NHI) claims record with a primary or a secondary diagnosis of stroke (ICD-10 codes: I60-I69, G45) in 2005. Direct medical costs of the stroke were measured from the NHI claims records. Direct non-medical costs were estimated as transportation costs incurred when visiting the hospitals. Indirect costs were defined as patients and caregivers productivity loss associated with office visits or hospitalization. Also, the costs of productivity loss due to premature death from stroke were calculated. Results : A total of 882,143 stroke patients were identified with prevalence for treatment of stroke at 2.44%. The total cost for the treatment of stroke in the nation was estimated to be 3,737 billion Korean won (KRW) which included direct costs at 1,130 billion KRW and indirect costs at 2,606 billion KRW. The per-capita cost of stroke was 3 million KRW for men and 2 million KRW for women. The total national spending for hemorrhagic and ischemic stroke was 1,323 billion KRW and 1,553 billion KRW, respectively, which together consisted of 77.0% of the total cost for stroke. Costs per patient for hemorrhagic and ischemic stroke were estimated at 6 million KRW and 2 million KRW, respectively. Conclusions : Stroke is a leading public health problem in Korea in terms of the economic burden. The indirect costs were identified as the largest component of the overall cost.

The Identification of the High-Risk Pregnacy, Usign a Simplified Antepartum Risk-Scoring System (단순화된 산전위험득점체계를 이용한 고위험 임부의 확인)

  • Jo, Jeong-Ho
    • The Korean Nurse
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    • v.30 no.3
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    • pp.49-65
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    • 1991
  • This study was carried out to assess the problems with the pregnant women, and check out the risk-factors in the high-risk pregnancies, using a simplified antepartum risk-scoring system, which was revised from Edwards' scoring system to be suitable for Korean situaition. This instrument was included 4 categories, demographic, obstetric, medical and miscellaneous factors. This survey was based on the 1300 pregnant women who were admitted, $x^2$-test, F-test, Pearsons correation, using statistical package SAS in NAS computer system, KIST. The results of the study were as follows; 1. 1313 infants were deliveried of these 560 infants(42.7%) were born to mothers with risk-scores > 7, and 753 infants(57.3%) were born to mothers risk-scores <7. 2. Maternal age" parity, education level, of the demographic factors were significant relation statistically to identify the high risk pregnancies($X^2$=20.88, 42.87, 15.60 P < 0.01). 3. C-section, post term, incompetent cervix, uterine anomaly, polyhydramnios, congenital anomaly, sensitized RH negative, abortion, preeclampsia, excessive size infant, premature, low birth weight infanl, abnormal presentation, perinatal loss, multiple pregnancy, of the obstetric factors were significant relation statistically to identify the high risk-pregnancies. ($X^2$ = 175.96, 87.5, 16.28, 21.78, 9.46, 8. 10, 6.75, 22.9, 64.84, 6.93, 361.43, 185.55, 78.65, 45.52, P < 0.01). 4. Abnormal nutrition, anemia, UTI, other medicalcondition(pulmonary disease, severe influenza), heart disease, V.D., of the miscellaneous and medical factors, were significant relation statistically to identify the high risk-pregnancies. 5. Premature, low birth weight infant, contracted pelvis, abnormal presentation, of the risk factors were significantly related with Apgar score at 1 '||'&'||' 5 minute after birth and neonatal body weight. 6. Apgar score at 1 '||'&'||' 5 minute after, birth and neonatal body weight were significantly negative correlated with risk-score. 7. There were statistically significant difference between risk-score and Apgar score at 1 '||'&'||' 5 minute after birth, 3 group(0-3, 4-6, above 7), and neonatal body weight, 2 group(below 2.5kg, the other group) (F=104.65, 96.61, 284.92, P<0.01). 8. Apgar score at 1 '||'&'||' 5 minute after birth(below 7), and neonatal body weight(below 2.5kg), were significant relation statistically with risk score.($x^2$=65.99, 60.88, 177.07, P<0.01) were 60.8 %, 60% . 9. Correct classifications of morbid infants(l '||'&'||' 5 minute Apgar score < 7) were 77.8%, 83.8% and that of nonmorbid infants(l '||'&'||' 5 minute Apgar score > 7) were 60.8%, 60%. 10. There were statistically significant difference between dislribution of maternal risk-score among the morbid infants(l '||'&'||' 5 minute Apgar score < 7) and non morbid infants(l '||'&'||' 5 minute Apgar score> 7) ($x^2$=64.8, 58.8, P < 0.001). 11. There were statistically significant difference between distribution of morbid infants(l '||'&'||' 5 minute Apgar score < 7) and fetal death. 12. The predictivity for classifying high.risk cases was 12 % and for classifying low-risk cases was 98.3 % in 5 minute Apgar score. Suggestions for further studies are as follows; 1. Contineous prospective studies, using this newly revised scoring system are strongly recommended in the stetric service. 2. Besides risk facto~s used in this study, assessmenl of risks by factors in another scoring system and paralled studies related to perinatal outcome are strongly recommended.

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A Study on Process Optimization for CSOs Application of Horizontal Flow Filtration Technology (수평흐름식 여과기술의 CSOs 적용을 위한 공정 최적화 연구)

  • Kim, Jae-Hak;Yang, Jeong-Ha;Lee, Young-Shin
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.19 no.2
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    • pp.56-63
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    • 2018
  • The management of Combined Sewer Overflows(CSOs) and Separated Sewer Overflows(SSOs) discharge directly to the effluent system in an untreated state, which occurs when the facility capacity is exceeded due to heavy rain, has become an important issue in recent years as the heavy rain becomes a regular phenomenon. Despite the continuous development of filtration technology, targeting densely populated urban areas, CSOs are rarely applied. Therefore, this study was carried out to optimize the process to apply CSOs in a pilot-scale horizontal flow filtration system with a rope-type synthetic fiber. The research was carried out in two steps: a preliminary study using artificial samples and a field study using sewage. In the preliminary study using an artificial sample, head loss of the filter media itself was analyzed to be approximately 1.1cm, and the head loss was increased by approximately 0.1cm as the linear velocity was increased by 10m/hr. In addition, the SS removal efficiency was stable at 81.4%, the filtration duration was maintained for more than 6 hours, and the average recovery rate of 98% was obtained by air backwashing only. In the on-site evaluation using sewage, the filtration duration was approximately 2 hours and the average removal efficiency of 83.9% was obtained when belt screen (over 450 mesh) was applied as a pre-treatment process to prevent the premature clogging of filter media. To apply the filtration process to CSOs and SSOs, it was concluded that the combination with the pre-treatment process was important to reinforce the hydraulic dimension for the stable maintain of operation period, rather than efficiency. Compared to the dry season, the quality of incoming sewage was lower in the rainy season, which was attributed to the characteristics of the drainage area with higher sanitary sewerage. In addition, the difference in removal efficiency according to the influent quality of the wet season and dry season was small.