• Title/Summary/Keyword: Early 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.

Role of Plant Hormones in the Senescing Detached Leaves of Phaseolus vulgaris (강남콩 잎의 노화에 있어서 식물 호르몬의 역할)

  • 이동희;서영희;김영상
    • Journal of Life Science
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    • v.7 no.4
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    • pp.297-308
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    • 1997
  • Role of plant hormones on the leaf senescence of Phaseolus vulgaris were investigated by measuring the disassembly of chlorophyll-protein complexes in detached leaves treated with NAA, GA$_{3}$ , or BA. The loss of chlorophyll that was characteristic of leaf senescence induced disassembly of chlorophyll-protein complexed. During dark-induced senescence, PSI complex was rapidly degraded after the early stage, whereas RC-Core3 was slightly increased until the middle stage and slowly decreased thereafter. And gradual degradation of trimeric LCHII progressed after the late stage of senescence. Exogenous application of NAA and GA$_{3}$ had little or no effect in protecting disassembly of chlorophyll-protein complexes during leaf senescence compared to control. However exogenous BA application strongly leaves. In the simultaneous treatment of plant hormones and light, BA application under illumination of light was most effective in the stability of chlorophyll-protein complexes, particularly PSI, LHCII, RC-Core2, RC-Core3 and SC-1. these results suggest, therefore, that simultaneous application of BA and light induced synergistic effect on the stability off chlorophyll-protein complexes during leaf senescence.

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The Analysis of Dental Hospital Patients with Trigeminal Neuralgia (치과병원에 내원한 삼차신경통환자의 치험예 (34예 분석))

  • Kim, In-Jung;Choi, Jong-Hoon;Kim, Chong-Youl
    • Journal of Oral Medicine and Pain
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    • v.25 no.2
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    • pp.235-240
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    • 2000
  • This study was carried out among 34 patients who visited Yonsei Dental Hospital from 1996. 1. to 1999. 5 for trigeminal neuralgia. By studying the patient's treatment prior to visiting our hospital, features of trigeminal neuralgia, treatment process of trigeminal neuralgia, prognosis of treatment, consultation with other professions and involvement of surgery, etc., the results are as follows: 1. 67.7% of onset age range from 40s to 60s, and average age is 50.2. 2. Ratio of right to left involvement is 1:2.1, male to female ratio is 1:1.9. 3. Occurrence rate of each branch is V3(44.1%), V2(11.8%), V1+V2+V3(11.8), V1+V2(8.8%). 4. Treatments prior to admission to our hospital are extraction(5.9%), endodontic treatment(5.9%), medication(11.8%), Oriental Medicine treatment(5.9%). 5. Routes of admittance to our hospital are by their preference(55.9%), local clinic referral(32.4%), E.N.T referral(5.9%), Neurology referral(5.9%). 6. 70.6% of patients treated at our hospital who were relieved of symptoms, were referred to Neurology(66.7%) and Pain Clinic(33.3%) for the reason of relapse, side effects of the drug itself, incomplete relief of pain. 7. 2 patients who were referred to medical part showed brain vessels contacting trigeminal nerve root on Brain MRangiography. But pain is being controlled by medication and no specific surgical procedure was carried out. The results show that 17.7% of patients admitted received inappropriate early treatment. In order to relieve tooth loss and patient's psychologic stress due to inappropriate treatment, precise differential diagnosis must be made among local teeth disease and idiopathic facial pain. Medication may show side effects of the drug itself, incomplete relief of pain or relapse of symptoms. Therefore, to treat trigeminal neuralgia appropriately by drug injection, surgery or radiation therapy, consultations among dentists, neurologists and anesthesiologists are required.

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Estimating the Socioeconomic Costs of Child Abuse (아동학대의 사회경제적 비용 추계)

  • Kim, Soo Jung;Chung, Ick Joong
    • Journal of the Korean Society of Child Welfare
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    • no.53
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    • pp.25-50
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    • 2016
  • For child abuse prevention in Korea, this study estimated the socioeconomic costs of child abuse. Based on previous studies, the present study organized component categories for estimable direct and indirect costs of child abuse, and estimated the cost of each category in 2014 through the collection of existing data and through Delphi survey techniques among experts. The total socioeconomic costs of child abuse were compared to Korea's GDP. The results of this study were as follows. First, the socioeconomic costs of child abuse in Korea in 2014 ranged from 389.9 billion KW(0.03 percent compared to GDP) to 76 trillion KW(5.1 percent compared to GDP). Second, the indirect socioeconomic costs of child abuse are much higher than the direct costs. Third, costs related to productivity loss and unemployment accounted for the largest proportion of the total costs. In addition, the proportion of the child protection budget in Korea was very low compared to developed countries. These findings suggest that there is a need to increase Korea's child protection budget and to take urgent action to detect unrevealed child abuse cases. Furthermore, in order to reduce indirect costs, it is important to provide abused children with early professional treatment.

The Factors Accociated with Needs of Tooth Extraction in Elderly Drinkers (노년기 음주자의 치아발거 필요와 관련된 요인)

  • Lee, Ji-yeoun;Kang, Eun-Jung
    • Journal of Convergence for Information Technology
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    • v.9 no.12
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    • pp.227-235
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    • 2019
  • This study was conducted on 1,865 drunk elderly people who had teeth that were over 65 years old. As a result of analysis of factors related to tooth extraction, the higher the income, the lower the income, the higher the risk of having to remove teeth from smokers, poorer oral health status, and no oral hygiene products. The difference was statistically significant. In order to identify the risk factors of tooth extraction for the elderly and prevent tooth loss early and to extend the life of residual teeth as much as possible, it is necessary to improve the drinking culture and seek oral health care strategies in the previous life cycle, not the present, Oral health policy should be pursued.

Characteristics of the Infection of Tilletia laevis Kuhn (syn. Tilletia foetida (Wallr.) Liro.) in Compatible Wheat

  • Ren, Zhaoyu;Zhang, Wei;Wang, Mengke;Gao, Haifeng;Shen, Huimin;Wang, Chunping;Liu, Taiguo;Chen, Wanquan;Gao, Li
    • The Plant Pathology Journal
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    • v.37 no.5
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    • pp.437-445
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    • 2021
  • Tilletia laevis Kuhn (syn. Tilletia foetida (Wallr.) Liro.) causes wheat common bunt, which is one of the most devastating plant diseases in the world. Common bunt can result in a reduction of 80% or even a total loss of wheat production. In this study, the characteristics of T. laevis infection in compatible wheat plants were defined based on the combination of scanning electron microscopy, transmission electron microscopy and laser scanning confocal microscopy. We found T. laevis could lead to the abnormal growth of wheat tissues and cells, such as leakage of chloroplasts, deformities, disordered arrangements of mesophyll cells and also thickening of the cell wall of mesophyll cells in leaf tissue. What's more, T. laevis teliospores were found in the roots, stems, flag leaves, and glumes of infected wheat plants instead of just in the ovaries, as previously reported. The abnormal characteristics caused by T. laevis may be used for early detection of this pathogen instead of molecular markers in addition to providing theoretical insights into T. laevis and wheat interactions for breeding of common bunt resistance.

Effect of Acupuncture on Depression and Cell Proliferation in Hippocampal Gyrus Dentatus of Maternal-separated Rat Pups (침술 치료가 모성분리 새끼 쥐의 우울증과 해마의 치상회 세포증식에 미치는 영향)

  • Park, Jung-Sik;Lim, Hyung-Ho
    • Journal of Korean Medicine Rehabilitation
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    • v.29 no.2
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    • pp.91-99
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    • 2019
  • Objectives The loss of maternal care during early postnatal period may increase development of mood-related disorders, such as depression, anxiety, and personality disorders. In this study, the effect of acupuncture on depression in relation with cell proliferation in the hippocampal gyrus dentatus was investigated using maternal-separated rat pups. Methods On the postnatal 14th day, rat pups from six dams were grouped into following groups: maternal care group, maternal separation group, maternal separation and non-acupoint-acupunctured group, maternal separation and Zusanli-acupunctured group, and maternal separation and fluoxetine-treated group. Acupuncture was performed from postnatal 28th day to postnatal 37th day. The rat pups that belong in the maternal separation and fluoxetine-treated group were injected subcutaneously with 5 mg/kg fluoxetine hydrochloride once a day for the same period of time. To evaluate activity of the rat pups, open field test was performed. Immunohistochemistry for serotonin (5-hydroxytryptamine, 5-HT) and tryptophan hydroxylase (TPH) in the dorsal raphe and for 5-bromo-2'-deoxyuridine (BrdU) in the hippocampal gyrus dentatus was conducted. Results The present results reveal that the activity was decreased by maternal separation. In contrast, acupuncture at Zusanli overcame maternal separation-induced hypoactivity. Maternal separation suppressed TPH expression and 5-HT synthesis in the dorsal raphe and decreased cell proliferation in the hippocampal gyrus dentatus of rat pups. In contrast, acupuncture at Zusanli alleviated maternal separation-induced decrease of 5-HT synthesisand TPH expression. Conclusions The present results demonstrate that acupuncture at Zusanli ameliorated depressive state through increasing cell proliferation and enhancing 5-HT synthesis.

A Study on Fire Detection in Ship Engine Rooms Using Convolutional Neural Network (합성곱 신경망을 이용한 선박 기관실에서의 화재 검출에 관한 연구)

  • Park, Kyung-Min;Bae, Cherl-O
    • Journal of the Korean Society of Marine Environment & Safety
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    • v.25 no.4
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    • pp.476-481
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    • 2019
  • Early detection of fire is an important measure for minimizing the loss of life and property damage. However, fire and smoke need to be simultaneously detected. In this context, numerous studies have been conducted on image-based fire detection. Conventional fire detection methods are compute-intensive and comprise several algorithms for extracting the flame and smoke characteristics. Hence, deep learning algorithms and convolution neural networks can be alternatively employed for fire detection. In this study, recorded image data of fire in a ship engine room were analyzed. The flame and smoke characteristics were extracted from the outer box, and the YOLO (You Only Look Once) convolutional neural network algorithm was subsequently employed for learning and testing. Experimental results were evaluated with respect to three attributes, namely detection rate, error rate, and accuracy. The respective values of detection rate, error rate, and accuracy are found to be 0.994, 0.011, and 0.998 for the flame, 0.978, 0.021, and 0.978 for the smoke, and the calculation time is found to be 0.009 s.

Subtotal calvarial vault reconstruction utilizing a customized polyetheretherketone (PEEK) implant with chimeric microvascular soft tissue coverage in a patient with syndrome of the trephined: A case report

  • Wang, Jessica S.;Louw, Ryan P. Ter;DeFazio, Michael V.;McGrail, Kevin M.;Evans, Karen K.
    • Archives of Plastic Surgery
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    • v.46 no.4
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    • pp.365-370
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    • 2019
  • The syndrome of the trephined is a neurologic phenomenon that manifests as sudden decline in cognition, behavior, and sensorimotor function due to loss of intracranial domain. This scenario typically occurs in the setting of large craniectomy defects, resulting from trauma, infection, and/or oncologic extirpation. Cranioplasty has been shown to reverse these symptoms by normalizing cerebral hemodynamics and metabolism. However, successful reconstruction may be difficult in patients with complex and/or hostile calvarial defects. We present the case of a 48-year-old male with a large cranial bone defect, who failed autologous cranioplasty secondary to infection, and developed rapid neurologic deterioration leading to a near-vegetative state. Following debridement and antibiotic therapy, delayed cranioplasty was accomplished using a polyetheretherketone (PEEK) implant with free chimeric latissimus dorsi/serratus anterior myocutaneous flap transfer for vascularized resurfacing. Significant improvements in cognition and motor skill were noted in the early postoperative period. At 6-month follow-up, the patient had regained the ability to speak, ambulate and self-feed-correlating with evidence of cerebral/ventricular re-expansion on computed tomography. Based on our findings, we advocate delayed alloplastic implantation with total vascularized soft tissue coverage as a viable alternative for reconstructing extensive, hostile calvarial defects in patients with the syndrome of the trephined.

A GIS-Based Spatial Analysis for Enhancing Classification of the Vulnerable Geographical Region of Highly Pathogenic Avian Influenza Outbreak in Korea (GIS 공간분석 기술을 이용한 국내 고병원성 조류인플루엔자 발생 고위험지역 분류)

  • Pak, Son-Il;Jheong, Weon-Hwa;Lee, Kwang-Nyeong
    • Journal of Veterinary Clinics
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    • v.36 no.1
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    • pp.15-22
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    • 2019
  • Highly pathogenic avian influenza (HPAI) is among the top infectious disease priorities in Korea and the leading cause of economic loss in relevant poultry industry. An understanding of the spatial epidemiology of HPAI outbreak is essential in assessing and managing the risk of the infection. Though previous studies have reported the majority of outbreaks occurred clustered in what are preferred to as densely populated poultry regions, especially in southwest coast of Korea, little is known about the spatial distribution of risk areas vulnerable to HPAI occurrence based on geographic information system (GIS). The main aim of the present study was to develop a GIS-based risk index model for defining potential high-risk areas of HPAI outbreaks and to explore spatial distribution in relative risk index for each 252 Si-Gun-Gu (administrative unit) in Korea. The risk index was derived incorporating seven GIS database associated with risk factors of HPAI in a standardized five-score scale. Scale 1 and 5 for each database represent the lowest and the highest risk of HPAI respectively. Our model showed that Jeollabuk-do, Chungcheongnam-do, Jeollanam-do and Chungcheongbuk-do regions will have the highest relative risk from HPAI. Areas with risk index value over 4.0 were Naju, Jeongeup, Anseong, Cheonan, Kochang, Iksan, Kyeongju and Kimje, indicating that Korea is at risk of HPAI introduction. Management and control of HPAI becomes difficult once the virus are established in domestic poultry populations; therefore, early detection and development of nationwide monitoring system through targeted surveillance of high-risk spots are priorities for preventing the future outbreaks.