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Cochlear Implantation via the Transmeatal Approach in an Adolescent with Hunter Syndrome-Type II Mucopolysaccharidosis

  • Kim, Hantai;An, Jun Young;Choo, Oak-Sung;Jang, Jeong Hun;Park, Hun Yi;Choung, Yun-Hoon
    • Journal of Audiology & Otology
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    • v.25 no.1
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    • pp.49-54
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    • 2021
  • Type II mucopolysaccharidosis (MPS II) commonly known as Hunter syndrome, is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, which in turn causes otorhinolaryngological manifestations, including sensorineural hearing loss (SNHL). Previously, the median survival age of patients with MPS was approximately 13.4 years. However, in the era of enzyme replacement therapy and other multidisciplinary care modalities, the life expectancy has increased. Herein, we report a rare case of an adolescent with MPS II who underwent SNHL treatment with cochlear implantation (CI). Based on unexpected findings of mastoid emissary veins and overgrowth of the vessels around the temporal bone, CI was performed using the transmeatal approach instead of the conventional transmastoid method, to avoid damage to the vessels. The average hearing threshold after CI was 35 dB and no surgical complications were encountered. Adolescent MPS II may present vessel abnormalities, which can reduce the success rate of surgery. In patients with MPS II with SNHL, CI should be performed under careful monitoring of vessel overgrowth. Moreover, with regard to feasibility of CI in adolescent patients with MPS II with SNHL, surgical techniques such as the transmeatal approach should be selected based on adequate assessment of the case.

Investigation on the occurrence and fate of micropollutants in domestic wastewater treatment plants based on full-scale monitoring and simple statistical analysis (현장 모니터링과 기초통계분석에 기반한 국내 하수처리장 미량오염물질 발생 및 거동 조사)

  • Chae, Sung Ho;Lim, Seung Ji;Lee, Jiho;Gashaw, Seid Mingizem;Lee, Woongbae;Choi, Sangki;Lee, Yunho;Lee, Woorim;Son, Heejong;Hong, Seok-Won
    • Journal of Korean Society of Water and Wastewater
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    • v.36 no.2
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    • pp.107-119
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    • 2022
  • The frequent detection and occurrence of micropollutants (MPs) in aquatic ecosystems has raised public health concerns worldwide. In this study, the behavior of 50 MPs was investigated in three different domestic wastewater treatment plants (WWTPs). Furthermore, the Kruskal-Wallis test was used to assess the geographical and seasonal variation of MPs in the WWTPs. The results showed that the concentrations of 43 MPs ranged from less than 0.1 to 237.6 ㎍ L-1, while other seven MPs including 17-ethynylestradiol, 17-estradiol, sulfathiazole, sulfamethazine, clofibric acid, simvastatin, and lovastatin were not detected in all WWTPs. Among the detected MPs, the pharmaceuticals such as metformin, acetaminophen, naproxen, and caffeine were prominent with maximum concentrations of 133.4, 237.6, 71.5, and 107.7 ㎍ L-1, respectively. Most perfluorinated compounds and nitrosamines were found at trace levels of 1.2 to 55.3 ng L-1, while the concentration of corrosion inhibitors, preservatives (parabens), and endocrine disruptors ranged from less than 0.1 to 4310.8 ng L-1. Regardless of the type of biological treatment process such as MLE, A2O, and MBR, the majority of pharmaceuticals (except lincomycin, diclofenac, iopromide, and carbamazepine), parabens (except Methyl paraben), and endocrine disruptors were removed by more than 80%. However, the removal efficiencies of certain MPs such as atrazine, DEET, perfluorinated compounds (except PFHxA), nitrosamines, and corrosion inhibitors were relatively low or their concentration even increased after treatment. The results of statistical analysis reveal that there is no significant geographical difference in the removal efficacy of MPs, but there are temporal seasonal variations in all WWTPs.

Cytotoxicity of Multipurpose Contact Lens Solutions on the Cultured Corneal Epithelial Cells Evaluated by Image Analysis (이미지 분석법을 이용한 소프트 콘택트렌즈용 다목적용액의 각막상피세포 독성 평가)

  • Kim, Nam-Youl;Lee, Koon-Ja
    • Journal of Korean Ophthalmic Optics Society
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    • v.20 no.1
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    • pp.51-60
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    • 2015
  • Purpose: To determine the effect of marketed multipurpose contact lens solutions (MPSs) on human corneal epithelial cells (HCEpiCs) toxicity by using image analysis. Methods: HCEpiCs were exposed six MPSs (product A-F) at 0.05~50% for 2h, 12h, 24h, and 48h respectively. HCEpiCs were fixed and stained with Draq5 after exposure with MPSs, and the cell viability and apoptosis were evaluated by using confocal microscope and ImageXpress UltraTM. Results: Viabilities of HCEpiCs exposed to MPS A-F for a 2h were not affected, while reductions (52~75%) in cell viability over a 12h exposure of MPS B, MPS C, MPS D and MPS F, and significant more reductions (29~73%) over a 24h and 48h-exposure. Apoptosis of HCEpiC was not affect over a 12h MPS exposure, however was significantly increased (199~526%) over 24h and 48h MPS exposure. Among the products MPS D, E and F reduced viability of HCEpiCs and apoptosis increased more than MPS A (p<0.05). Conclusions: Lower concentration of MPSs have not an cytotoxic effect on HCEpiCs, however higher concentration of MPSs induce apoptosis and reduce viability of HCEpiCs. Therefore, it need to develop MPS having antimicrobial effectiveness with low cytotoxicity.

Ingestion of Polystyrene Microplastics Acutely Induces Oxidative Stress in the Marine Medaka Oryzias javanicus

  • Nam, Sang-Eun;Jung, Jee-Hyun;Rhee, Jae-Sung
    • Journal of Marine Life Science
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    • v.6 no.1
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    • pp.31-37
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    • 2021
  • Larvae from the marine medaka fish Oryzias javanicus were exposed with polystyrene microplastics (MPs) for 24 h. Exposure to waterborne fluorescent MPs showed clear ingestion and egestion in feces. Under constant MPs, the concentration of dissolved oxygen significantly decreased in 24 h compared to the control. Significant intracellular reactive oxygen species and malondialdehyde contents were detected in larvae, indicating oxidative stress and lipid peroxidation. Significant elevations in mRNA expressions of heat shock protein 70 and antioxidant defense system genes (glutathione reductase, glutathione peroxidase, catalase, and superoxide dismutase) were measured with increases in enzymatic activity of oxidative stress-related proteins. Taken together, the alterations to the molecular and biochemical components suggested that waterborne MPs had an oxidative stress effect on marine medaka larvae.

Toxic Effects of Microplastic on Hematological Parameters, Plasma Components, and Antioxidant Responses in the Korean Rockfish Sebastes schlegelii (조피볼락(Sebastes schlegelii)의 혈액성상, 혈장성분 및 항산화 반응에 미치는 미세플라스틱의 독성 영향)

  • Jung-Hoon Kang;Ji Yeon Ko;Young-Bin Yu;Jae-Ho Choi;Ju-Hyeong Lee;Ju-Chan Kang
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.57 no.3
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    • pp.227-238
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    • 2024
  • This study aimed to evaluate the effects of polyethylene microplastic (PE-MPs) via measuring the growth performance, hematological parameters, and antioxidant responses in Korean rockfish Sebastes schlegelii exposed to waterborne polyethylene microplastic with dimensions of 22-71 ㎛. S. schlegelii (mean weight, 34.55±5.82 g; mean length, 12.59±0.79 cm) were exposed to PE-MPs at concentrations of 0, 400, 800, 1,600 and 3,200 ㎍/L for 10 and 20 days. PE-MPs significantly affected growth performance, hematological parameters, plasma components, and antioxidant responses in a concentration-dependent manner. At a concentration ≥1,600 ㎍/L, PE-MPs significantly decreased body weight gain and specific growth rate, and significantly increased the hepatosomatic index. Hematological parameters showed a significant decrease in total red blood cell count and hemoglobin levels. Plasma components showed a significant increase in glucose, aspartate aminotransferase, and alanine transaminase levels, whereas total protein, calcium, and magnesium levels significantly decreased. Exposure to ≥1,600 ㎍/L PE-MPs also induced reactive oxygen species generation in the gill and liver, significantly increasing superoxide dismutase and catalase activity. These findings suggest that exposure to ≥1,600 ㎍/L PE-MPs could significantly change growth performance, hematological parameters, plasma components, and antioxidant responses, resulting in physiological toxicity.

Pressure Pain Threshold Measurement Using a Pressure Algometer in Myofascial Pain Syndromes (근근막 통증 증후군에서 Pressure Algometer를 이용한 골격근 압통 역치에 관한 연구)

  • Kwon, Young-Eun;Lee, Su-Jong;Yoon, Chae-Sik;Lee, Jun-Hak
    • The Korean Journal of Pain
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    • v.14 no.1
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    • pp.32-36
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    • 2001
  • Background: There is no reliable objective test for the diagnosis of myofascial pain syndromes. The aim of this study was to evaluate the usefulness of a pressure algometer for the diagnosis of the trigger points and for the evaluation of the treatment in myofascial pain syndromes (MPS). Methods: Twenty female patients with clinical MPS of shoulder were included in this study. Pressure pain thresholds were measured by a pressure algometer at three different sites including the trapezius, supraspinatus and infraspinatus before, and then the 1st, 3rd and 7th days after TPI. Results: Mean pressure pain thresholds were lower in patients with MPS in than normal volunteers in all the examined skeletal muscles. Mean pressure pain thresholds in patients with MPS were increased significantly after TPI in all the examined skeletal muscles. Conclusions: Pressure algometer can be used as relatively objective diagnostic tool for locating trigger points and to quantify the effect of TPI in MPS. However, more investigation is necessary.

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Characteristics of Malodor Pollutants and Their Dispersion Measured in Several Industrial Source Regions in Yangsan (양산시 산업단지에서 측정한 악취물질의 농도 분포 특성 및 대기확산 모델링)

  • Song, Sang-Keun;Shon, Zang-Ho;Kim, Yoo-Keun;Park, Heung-Jai
    • Journal of Environmental Science International
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    • v.18 no.10
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    • pp.1103-1114
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    • 2009
  • In this study, the environmental behavior of malodor pollutants (MPs: $H_2S$, $CH_3SH$, DMS, and DMDS) was investigated around areas influenced by strong anthropogenic processes based on observations and modeling study (a CALPUFF dispersion model). The MP emission concentrations were measured from 8 industrial source regions (tire plants (S1-S3), waste water disposal plant (S4), and oil refinery (S5) in an urban center area and paper mill/incineration plant (S6) and livestock feedlots (S7-S8) in Ungsang area) in Yangsan city during a fall period in 2008 (21 October 2008). Overall, the most MPs emitted from the urban center area were found to affect the malodor pollution in their downwind areas during early morning (06:00 LST) and nighttime (18:00 and 21:00 LST), compared with those in the Ungsang area. For malodor intensity, the most MPs in the urban center area (especially S1 and S2) were found to be a significant contributor, whereas $CH_3SH$ and $H_2S$ in the Ungsnag area (especially S6) were the dominant contributor. The model study showed agreement in the spatial distributions of simulated MPs with those of the observations. The largest impact of MPs in the urban center area on the malodor pollution in its residential areas occurred at S1, S2, and S3 sites during nighttime, while that of MPs in the Ungsang area occurred at S6 and S8 sites. This may be caused mainly by the high MP emissions and in part by wind conditions (prevailing northeasterly winds with low wind speeds of 2-3 m/s).

Clinical and Laboratory Features of Korean Mucopolysaccharidoses (MPSs) (한국 뮤코 다당체 침착증 환자에 대한 임상적 고찰)

  • Sohn, Woo Yun;Lee, Jee Hyun;Paik, Kyung Hoon;Kwon, Eun Kyoung;Kim, Ahn Hee;Jin, Dong Kyu
    • Clinical and Experimental Pediatrics
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    • v.48 no.10
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    • pp.1132-1138
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    • 2005
  • Purpose : The mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. They are caused by a deficiency of the enzymes involved in the degradation of glycosaminoglycans. Early recognition is important because recombinant enzyme replacement therapy is now available for MPS. We studied the clinical characteristics of 80 MPS children with the object of determining the epidemiological, clinical and radiological features in Korean MPS children. Methods : Diagnosis of MPS was confirmed by skin fibroblast enzyme analysis in 80 patients between February 1995 and December 2004. Charts were retrospectively reviewed for clinical and radiological findings, as well as for intelligence and speech evaluations. Results : Hunter syndrome (MPS type II) was the most prevalent type, appearing in 51/80 cases (64 %), followed by Sanfilippo syndrome (MPS III-18%), Hurler syndrome (MPS I-15%), and Morquio syndrome (MPS IV-4%). The average age at diagnosis was 5.5 years (range 1 to 20), and the male-to-female ratio was 4.7 : 1. Typical radiographic changes were observed in 45/54 cases (83%). Mitral regurgitation was the most common cardiac defect. Moderate to profound mental retardation and hearing loss were present in 14/35 cases (56%) and 33/38 cases (82%), respectively. Four MPS II patients had bone marrow transplantation, with mixed outcomes. Five MPS I patients are currently on enzyme replacement therapy. Conclusion : Our study showed a high proportion of MPS II cases (64%), which may represent population variability. By studying the clinical features of these patients, we hope to alert pediatricians of the warning signs of MPS.

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA

  • Lee, Na Hee;Cho, Sung Yoon;Maeng, Se Hyun;Jeon, Tae Yeon;Sohn, Young Bae;Kim, Su Jin;Park, Hyung-Doo;Jin, Dong Kyu
    • Clinical and Experimental Pediatrics
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    • v.55 no.11
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    • pp.430-437
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    • 2012
  • Purpose: Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder. Therefore, we studied clinical findings, radiological features, and genetic data of Korean MPS IVA patients for determining factors that may allow early diagnosis and that may thus improve the patients' quality of life. Method: MPS IVA was confirmed via assay for enzymatic activity of leukocytes in 10 patients. The GALNS gene was analyzed. Patients' charts were retrospectively reviewed for obtaining clinical features and evaluated for radiological skeletal surveys, echocardiography, pulmonary function test, and ophthalmologic test results. Result: Nine patients had severe clinical phenotype, and 1 had an intermediate phenotype, on the basis of clinical phenotype criteria. Radiologic findings indicated skeletal abnormalities in all patients, especially in the hips and extremities. Eight patients had an odontoid hypoplasia, and 1 showed mild atlantoaxial subluxation and cord myelopathy. Genetic analysis indicated 10 different GALNS mutations. Two mutations, c.451C>A and c.1000C>T, account for 37.5% (6/16) and 25% (4/16) of all mutations in this samples, respectively. Conclusion: An understanding of the clinical and radiological features involved in MPS IVA may allow early diagnosis of MPS IVA. Adequate evaluations and therapy in the early stages may improve the quality of life of patients suffering from skeletal abnormalities and may reduce life-threatening effects of atlantoaxial subluxation.