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A Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) Confirmed by SLC25A13 Mutation

  • Son, Yeong-Bae;Jang, Ju-Yeong;Park, Hyeong-Du;Lee, Su-Yeon
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.14 no.2
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    • pp.186-190
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    • 2014
  • Citrullinemia type 2 (citrin deficiency) is an autosomal recessive inborn error metabolism, caused by the SLC25A13 gene mutation. Citrin deficiency is associated with two clinical phenotype; neonatal-onset type II citrullinemia (CTLN2), also known as neonatal intraphepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset CTLN2. Clinical manifestations of NICCD include poor growth, intrahepatic cholestasis, liver dysfunction and increased plasma citrulline, methionine, threonine, arginine. The molecular diagnosis could be confirmed by SLC25A13 gene mutation analysis. A 3-month-old male infant with persistent jaundice was referred for evaluation. Newborn screening was normal at birth. Mild elevation of serum ammonia and AST/ALT were observed. Plasma amino acid analysis showed significantly elevated citrulline, methionine, threonine. DNA sequence analysis of the SLC25A13 gene revealed two compound heterozygous mutations, c.[852_855del]($p.Met285Profs^*2$) and [1180+1G>A]. We suggest that NICCD should be considered as one of the cause of in infants with cholestatic jaundice, although the newborn screening was normal.

The Conformation of the Jindo (Canis familiaris), Korean Native Dog - the trunk and limb (진도개의 체형 - 몸통과 다리)

  • Park, Y.S.;Kim, S.K.;Lee, J.C.;Oh, S.I.;Lee, S.H.;Park, B.K.;Lee, J.I.;Lee, C.Y.;Lee, C.G.
    • Journal of Animal Science and Technology
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    • v.47 no.5
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    • pp.891-898
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    • 2005
  • The trunk and limb of the Jindo, Korean native dog was measured in the present study. One hundred and ninety five Jindoes were randomly selected from the 1,985 dogs in the Jindo County in August 1998, which were screened by the judging committee of the County and registered by inserting electronic chips in the withers. They were about a year and half old, and were white and fawn dogs. A total of 18 parts of the trunk and limb were measured using calipers and tapes. The average height at the withers was 50.67 cm in dogs and 47.48 cm in bitches. The average body length was 52.99 cm in dogs and 50.33 cm in bitches. And the average height : body length ratio was 104.70 in dogs and 106.08 in bitches. No differences were observed between the Jindoes of the two coat colors in these measurements. The results of this study would be useful for compiling the official standard for the adult Jindo.

Advancement and Application of Somatic Cell Nuclear Transfer Technique in Dog

  • Oh, H.J.;Hong, S.G.;Park, J.E.;Kim, M.J.;Gomez, M.N.;Kim, M.K.;Kang, J.T.;Kim, J.E.;Jang, G.;Lee, B.C.
    • Proceedings of the Korean Society of Developmental Biology Conference
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    • 2009.02a
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    • pp.49-57
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    • 2009
  • The cloning of canids was succeeded in 2005, several years after the birth of Dolly the sheep and also after the cloning of numerous other laboratory and farm animal species. The delay of successful somatic cell nuclear transfer (SCNT)was due to the unique reproductive characteristics of the female dogin comparison to other domestic mammals, such as ovulation of immature canine oocyte and a requirement of 25 days for the completion of meiosis within the oviduct (Holst & Phemister, 1971). When the technology for the recovery of in vivo matured oocyte was established, the application of cloning also became possible and cloned dog offspring were obtained. This report summarizes the progress of technical procedures that are required for cloning canids and the application of this technique. The first cloned dog, Snuppy, was achieved using an in vivo-matured oocyte which was enucleated and transferred with an adult skin cell of male Afghan hound. After establishment of a criterion of well-matured oocyte for the improvement of SCNT efficiency, we obtained three cloned female Afghan hound and a toy poodle cloned from 14 year-old aged Poodle using SCNT through this factor. To date, cloned dogs appeared to be normal and those that have reached puberty have been confirmed to be fertile. Through application of canine SCNT technique, first, we demonstrated that SNCT is useful for conserving the breed of endangered animal from extinction through cloning of endangered gray wolves using inter-species SCNT and keeping the pure pedigree through the cloning of Sapsaree, a Korean natural monument. Secondly, we showed possibility of human disease model cloned dog and transgenic cloned dog production through cloning of red fluorescent protein expressing dog. Finally, SCNT can be used for the propagation of valuable genotypes for making elite seed stock and pet dog. In summary, dog cloning is a reproducible technique that offers the opportunity to preserve valuable genetics and a potential step towards the production of gene targeted transgenic cloned dogs for the study of human diseases.

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The Effects of Music Therapy by Self-Selected Music Listening on Terminal Cancer Patients' Affect and Stress by Pain Level (선호 음악 감상의 음악치료가 말기암환자의 통증 정도에 따른 정서 및 스트레스에 미치는 효과)

  • Lee, Eun-Hai;Choi, Sung-Eun
    • Journal of Hospice and Palliative Care
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    • v.15 no.2
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    • pp.77-87
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    • 2012
  • Purpose: This study investigated the effects that music therapy by self-selected music listening has on the affect and stress relief in adult patients who have been diagnosed with terminal cancer by pain level. Methods: Participants were 20 terminally ill cancer patients who were over 18 years old and were admitted to the hospice and palliative care unit of a local hospital. At the beginning of each session, participants selected music of their choice. Each participant had a total of six 30-minute music listening sessions. Participants were grouped into two according to their self-rated perceived pain scores on the visual analogue scale and numeric rated score: 5 and above and less than 5. Each participant completed a questionnaire on their affect state before and after each session and a questionnaire on their stress level before the first session and after the last session. Further analysis was performed to compare differences between the two groups according to pain level. Results: There were significant differences in patients' affect before and after each session (P<0.001) and stress level before and after the therapy (P=0.001). Conclusion: In this study, self-selected music listening had positive effects on terminal cancer patients' affect and stress regardless of perceived pain level. Therefore, self-selected music listening can be used as an appropriate intervention to improve affect and reduce stress in terminal cancer patients in the hospice and palliative care unit.

A Study on the Content of Heavy Metals of Marine Fish in Korean Coastal water (우리나라 일부연안 해산 어류 중의 중금속 함량에 관한 연구)

  • 성덕화;이용욱
    • Journal of Food Hygiene and Safety
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    • v.8 no.4
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    • pp.231-240
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    • 1993
  • This study was carried out to find out the content of injurious heavy metals, such as mercury, lead, cadmium and arsenic of marine fish which had been captured in adjacent sea of Korea. From March, 1 to April, 30 in 1993. 60 sample of fishes were collected the adult fish and young fish. These samples were analyzed by the Mercury Analyzer and Inductively Coupled Plasma Emission Spectro Analyzer. The results of the study were summarized as follows: (1) The content of mercury in Therafra chalcograma was 0.112$\pm$0.034 ppm which was higher than other fishes, but Pseudosciaena manchurica and Pampus argenteus had lower (P<0.05). Although lead content of Trichiurus lepturus was 0.359$\pm$0.056 ppm, which was higher than other fishes. The lead content of Theragra chalcograma had lower to the almost same level. The cadmium content of the Theragra chalcograma was 0.069$\pm$0.010 ppm which was higher than other samples, but Pseudosciaena manchurica had 0.039$\pm$0.020 ppm to lower level. Though there was some fluctuation in the arsenic content which was 0.433~3.752 ppm, the arsenic content of Therafra chalcograma was 3.752$\pm$2.873 ppm which was the higher than any other fishes. But there are not statistical significances. (2) Heavy metal content by the maturity of the fishes: Mercury content of the old Pseudosciaena manchurica was 0.055$\pm$0.15 ppm comparing to the young's result of 0.030$\pm$0.009 ppm (P<0.05). Though there were some differences according to the maturity, but thee was no statistical significance. (3) In view of the correlation of the heavy metal content, for Pseudosciaena manchurica, high correlation was founded to r=0.6437 between mercury and cadmium (P<0.05). Though the content of mercury, arsenic cadmium and lead had positive correlation (r=0.2725) and negative correlation (r=-0.3958), but there was no significance at all. The other fishes were not found correlation between the heavy metal content. Positive correlation was found between age with mercury in Pseudociaena manchurica (r=0.7018, P<0.05). The negative correlation of age with lead content in the Pseudociaena Manchurica was signigicant (P<0.05). The correlation coefficient was r=-0.7623. The age with mercury content in Coloabis saira had high correlation (r=0.7201, P<0.05). Through the above analysis, it can get conclusion that injurious heavy metal content of the fishes in Korea such a mercury, lead, cadmium and arsenic were at the level of natural content. At present, guidelines of maximum residue level allowed at foreign countries about the injurious heavy metal have been used according to the kinds of fish but our government guideline for the marine fishes in only total mercury below 0.7 ppm and lead below 2 ppm. So more aggressive guidelines for the allowance level of heavy metals in marine fishes are required for the safety of foods.

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Control Method of Habitat Density of Limnoperna fortunei in the Enclosed Facility of Water Supply Pipeline (폐쇄공간 송수관로내 민물담치의 서식밀도 조절방법)

  • Shin, Jae-Ki;Chong, Sun-A;Noh, Joonwoo;Kim, Youngsung;Hwang, Soon-Jin
    • Korean Journal of Ecology and Environment
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    • v.47 no.3
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    • pp.219-224
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    • 2014
  • This study was conduct to the reduction and elimination of Limnoperna fortunei that problem in the facilities and water supply pipeline is done to review proposals for the controls. In order to effectively removal the larva and the adult of that, chlorination and being used to an existing method is to be commended. The water temperature of Limnoperna fortunei spawning season was ranged 16 to $17^{\circ}C$ during May to early November. A chlorination of this period is appropriate in order to control a larva. However, existing in the attached young and old shell at the same time consistently been deemed to apply, because it must be taken into account. The range of concentration of chlorination to control the biomass for Limnoperna fortunei was from 0.5 to 1.0 ppm. Proliferation attached to the mitigation or appropriate technology to solve the domestic situation the priorities of the choice of a more urgent. Also, the monitoring of water temperature and larva will constantly to be done. And development of larva monitoring method as well as after chlorine treatment is effective analysis needed. Finally, we are expecting to good use in validating the results presented in this study.

GARRE'S OSTEOMYELITIS IN CHILDREN (소아에서의 Garre 골수염)

  • Woo, Se-Eun;Kim, Young-Jin;Kim, Hyun-Jung;Nam, Soon-Hyeun
    • Journal of the korean academy of Pediatric Dentistry
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    • v.38 no.4
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    • pp.413-420
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    • 2011
  • Garre's osteomyelitis is associated with bacterial infection and bone necrosis resulting from obstruction of blood supply. The most common cause for Garre's osteomyelitis is odontogenic infection that originates from periodontal tissue or dental pulp. Subperiosteal abscess may also cause Garre's osteomyelitis in the progress of the infection. Mandible is more often affected than maxilla, most commonly in the permanent first molar region of mandible. Clinically, it results in a hard swelling over the jaw, producing facial asymmetry. Meanwhile, radiograph shows a characteristic feature of irregular pulpal cavity, showing new periosteal proliferation located in successive layers to the condensed cortical bone on stimulated site. The treatment method for Garre's osteomyelitis are removal of the infection source, root canal treatment, antibiotic medication, and incision and drainage. This report presents a case of Garre's osteomyelitis under 15 years old. The patient was successfully treated by antibiotic medication accompanied with root canal treatment. Since the symptom of pediatric patients is less severe than adult, careful diagnosis with history taking and clinical examination is necessary. Furthermore long-term follow-up examination is needed to prevent recurrence even after the symptom disapears.

Study on the realization of pause groups and breath groups (휴지 단위와 호흡 단위의 실현 양상 연구)

  • Yoo, Doyoung;Shin, Jiyoung
    • Phonetics and Speech Sciences
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    • v.12 no.1
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    • pp.19-31
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    • 2020
  • The purpose of this study is to observe the realization of pause and breath groups from adult speakers and to examine how gender, generation, and tasks can affect this realization. For this purpose, we analyzed forty-eight male or female speakers. Their generation was divided into two groups: young, old. Task and gender affected both the realization of pause and breath groups. The length of the pause groups was longer in the read speech than in the spontaneous speech and female speech. On the other hand, the length of the breath group was longer in the spontaneous speech and the male speech. In the spontaneous speech, which requires planning, the speaker produced shorter length of pause group. The short sentence length of the reading material influenced the reason for which the length of the breath group was shorter in the reading speech. Gender difference resulted from difference in pause patterns between genders. In the case of the breath groups, the male speaker produced longer duration of pause than the female speaker did, which may be due to difference in lung capacity between genders. On the other hand, generation did not affect either the pause groups or the breath groups. The generation factor only influenced the number of syllables and the eojeols, which can be interpreted as the result of the difference in speech rate between generations.

A Case of Late Presentation of Congenital Cystic Adenomatoid Malformation of the Lung (14세 여아에서 발견된 선천성 낭종성 선종성 기형 1예)

  • Lee, Myung In;Sohn, So Hee;Lee, Dae Joon;Ha, Dong Yul;Jee, Young Koo;Lee, Kye Young;Kim, Keun Youl;Choi, Young Hi;Cho, Jeong Hi;Seo, Pil Weon;Kim, Sam Hyun
    • Tuberculosis and Respiratory Diseases
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    • v.43 no.5
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    • pp.805-811
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    • 1996
  • Congenital cystic adenomatoid malformation of the Lung(CCAM) is characterized by anomalous fetal development of terminal respiratory structures, resulting in an adenomatoid proliferation of bronchiolar elements and cystic formation. CCAM was first described and differentiated from other cystic lung disease in the English literature by Ch'in and Tang in 1949. CCAN is a rare, potentially lethal form of congenital pulmonary cystic disease and the salient features of lesion are an irregular network of terminal respiratory bronchiole-like structures and macrocysts variably lined by pseudostratified ciliated columnar epithelium and simple cuboidal epithelium. Adult presentation of CCAM of the lung is so rare that only 9 cases have been reported in the literature of date. The pathogenesis of CCAM remains disputed and reseachers have variously proposed that the lesion represents a developmental anomaly, hamartoma, or a fonn of pulmonary dysplasia. Van Dijk and Wagenvoort divided CCAM into three subtypes : cystic, intermediated, and solid. These correspond to types I, II, and III of Stocker. In adults, the evaluation of cystic or multi cystic lung disease requires consideration of a differential diagnosis including the acquired lesions of lung abscess, cavitary neoplasm or inflammatory mass, bullous disease, bronchiectasis, and postionflammatory pneumatocele. Congenital lesions such as sequestration, bronchopulmonary-foregut anomalies, and bronchogenic cyst are also encounted. The definitive treatment for CCAM is complele removal of the involved lobe. Panial lobectomy leads to multiple complications, including severe post-operative infection. We report a case of CCAM in a 14-year-old female presentated with a pneumothorax and large bullae, who was treated by surgical remove of the involved lobe.

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Reproductive Cycle and Induced Sexual Maturation of the Pacific Oyster, Crassostrea gigas (참굴, Crassostrea gigas의 생식주기와 성 성숙 유도)

  • Min, Kwang-Sik;Kim, Bong-Seok;Kim, Tae-Ik;Hur, Young-Baek;Chung, Ee-Yung
    • The Korean Journal of Malacology
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    • v.20 no.1
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    • pp.75-84
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    • 2004
  • Reproductive cycle, the condition index, sex ratio of the Pacific oysters, Crassostrea gigas were investigated by histological and morphometric data. The specimens were collected in the two oyster farms of Geoje and Namhae, Gyeongsangnam-do, Korea, from November 1995 to October 1996. Growth of shell length in two regions was similar, but growth of total weight of the oyster in Namhae was faster than that in Geoje oyster farm. The spawning periods in female and male clams were from July to October in Geoje and from June to October in Namhae oyster farm. Ripe oocytes were approximately 50 m in diameter. The reproductive cycle of in females and males in Geoje and Namhae oyster farms can be divided into five successive stages: early developing, late developing, ripe, partially spawned and spent/inactive. Monthly changes in gonad developmental phases showed somewhat different patterns between female and male clams except for the spawning period. On the whole, however, monthly changes in the gonad developmental phases showed a similar pattern in the same sex. The sex ratios of females to males in Geoje and Namhae oyster farms were not significantly different from a 1:1 sex ratio ($x^2$ = 0.55 (p > 0.05) in Geoje and $x^2$ = 0.27 ( p > 0.05) in Namhae). Artificial induction of maturation by heating of adult oysters (two-year-old) was investigated from 17 January to 18 March in 1996. Maturity at the fixed water temperature group of $20^{\circ}C$ was 80%, it showed the highest maturity of experimental groups cultured for five weeks. The survival (%) of Crassostrea gigas in the raised water temperature experimental groups (15, 20, $25^{\circ}C$) were over 98.5%, as similar to the control group (100%). But, the survival of C. gigas in the fixed water temperature experimental groups (15, 20, 25, $30^{\circ}C$) were decreased with the increase of the water temperatures. In the fixed water temperature experimental group of $30^{\circ}C$, the survival was 51.1%. Base on these results, the fixed water temperature of $20^{\circ}C$ was the best condition for artificial induction of sexual maturation.

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