• Title/Summary/Keyword: 머리기형

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Expression of Morphogenic Protein Genes in Juvenile Red Spotted Grouper (Epinephelus akaara) with Deformity (붉바리(Epinephelus akaara) 기형 발생 치어의 형태형성 유전자 발현)

  • You, Jin Ho;Mun, Seong Hee;Oh, Hyeon Ji;Baek, Hea Ja;Lee, Young-Don;Lee, Chi Hoon;Kwon, Joon Yeong
    • Journal of Marine Life Science
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    • v.4 no.1
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    • pp.38-43
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    • 2019
  • The deformity occurring at the early developmental stage of red spotted grouper (Epinephelus akaara) causes detrimental effects on the process of juvenile production. In this study, we have compared the expressions of several key genes (insulin like growth factor 1: IGF-1, bone morphogenic protein 4: BMP4, peroxisome proliferator-activated receptors γ: PPARγ, matrix Gla protein: MGP) for morphogenesis between normal and 2 types (cephalic and jaw) of deformed juvenile fish. Expression of these genes were investigated in the brain, liver and muscle of each group of fish (n=20) by real-time PCR. Expression of IGF-1 and BMP4 mRNA in the brain and liver showed significant difference between normal and deformed fish (p<0.05). However, no difference was observed in the expression of PPARγ and MGP mRNA between normal and deformed fish in any tissues. It seems certain that IGF-1 and BMP4 are associated with the state of deformity in juvenile red spotted grouper.

The Effects of PCB on the Embryonic Development of a Korean Frog, Rana dybowskii (PCB가 산개구리의 배아발생에 미치는 영향)

  • Ko Sun-Kun;Joung Soung-Yung
    • Korean Journal of Environment and Ecology
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    • v.18 no.3
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    • pp.340-345
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    • 2004
  • The embryotoxic effects of PCB (Aroclor 1248) on a Korean frog, Rana dybowskii was deter-mined by using the FETAX (Frog Embryo Teratogenesis Assay-Xenopus) protocol. The rates of mortality and malformed larvae were investigated by probit analysis. The results showed that PCB is highly embryolethal. From LC$_{50}$ of 1.48ppb and from EC$_{50}$ of 0.25ppb and TI of 5.7 were derived, which indicates PCB is to be considered a teratogenic compound. Specific malformations occurred in 62.0% as edema at the 0.1ppb, in 32.0% as tail deformations at the 1ppb, and in 68.0% as profound deformations at the 5ppb of PCB concentration which living embryos were exposed to. PCB suppressed the growth of head-tail length at a relatively low concentration (1.0ppb), and therefore growth inhibition as assessed by embryo length can be used as a sensitive indicator to evaluate the toxicity of pollutants in the environment. In conclusion, PCB must be considered highly embryotoxic to Rana dybowskii.

Incomplete Brachiocephalic Trunk in a Korean Water Deer (한국고라니의 불완전한 상완머리동맥)

  • Ahn, Dong-Choon;Tae, Hyun-Jin;Park, Byung-Yong;Sim, Jeoung-Ha;Kim, Jong-Taek;Kim, In-Shik
    • Journal of Veterinary Clinics
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    • v.28 no.5
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    • pp.526-529
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    • 2011
  • The brachiocephalic trunk (Bct) branches from the aortic arch (Aa) and consists, in ruminants, of the common trunk of the left subclavian artery (LSb), the bicarotid artery (Bc) or left and right common carotid artery (LCc and RCc), and the right subclavian artery (RSb). This pattern differs from the primitive mammalian Aa pattern due to the fact that the analogs of the LCc and LSb migrate cranially and merge with the common trunk of the RCc and RSb in the embryonic stage. A Bct having a septal remnant that consisted of the tunica media was observed in a female Korean water deer (Hydropotes inermis argyropus), which was deemed to have resulted from an incomplete merging of the vessel walls between a carnivoran-type Bct and an incomplete LSb. This is the first report of an abnormal Bct in a Korean water deer.

Derodidymus in Korean-Native Calf (한우 송아지의 이두이안체)

  • 강문일;박영석;한동운
    • Korean Journal of Animal Reproduction
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    • v.23 no.1
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    • pp.69-73
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    • 1999
  • A calf with derodidymus was delivered from a 3-year old Korean-native cow with abortion last ime at Jangheong area in Chonnam Province. The anomaly with body weight of 35 kg was born t the normal time of parturition. During the parturition, however, the calf with twin head was onfirmed and the complete amputation between fore and hind limb was inevitably carried out or safety of the dam. The calf had normal skeleton and extremities but had two heads and cervical vertebrae divided from upper thoracic part. At necropsy, there were found totally 3 pairs of ore limbs including two pairs of hypoplastic ones hided in the thoracic limb and also found one air of sternum. One head had incomplete torsion or unilateral hypoplasia of mandible with artly hypoplastic skull. There were marked fusion and torsion from cervical to 3rd thoracic vertebra. No abnormality was found on all organs in the pleural and abdominal cavities except a rectal stricture formed at 5 cm away from the atresia ani.

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Regulation of Acetylcholine Esterase and Monoamine Oxidase in Oryzias Latipes by Carbofuran (카보푸란에 의한 송사리 acetylcholine esterase 및 monoamine oxidase의 활성조절)

  • Kim, Sung-Hee;Kim, Woo-Keun;Lee, Jeong-Soon;Koh, Sung-Cheol;Lee, Sung-Kyu;Chon, Tae-Soo;Kim, Jong-Sang
    • Environmental Analysis Health and Toxicology
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    • v.18 no.1
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    • pp.21-25
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    • 2003
  • 카바메이트계 농약인 카보푸란은 어류에 대한 독성이 매우 높으며, 낮은 농도에서 어류의 척추기형이나 행동이상을 유발한다. 이러한 카보푸란의 독성기전을 밝히기 위한 일환으로 신경물질대사와 관련이 깊은 acetylcholine esterase(AChE)와 monoamine oxidase(MAO)에 미치는 농약의 효과를 송사리(Oryzias latipes; Medaka fish)를 이용하여 평가하였다. Medaka fish에 대한 카보푸란의 반수치사농도(LC$_{50}$)는 2.5 ppm이었으며, 1 ppb 카보푸란에 24시간 노출된 경우, AChE 효소활성이 머리와 몸통부위에서 각각 30, 20%씩 감소되었다. 한편, MAO 효소활성은 카보푸란의 농도가 증가함에 따라 머리부위에서는 감소한 반면, 몸통부위에서는 증가하는 경향을 보였다. 특히 카보푸란의 농도가 1 ppb에서도 송사리의 MAO 효소활성이 영향을 받는 것으로 나타나, 카보푸란에 의한 송사리의 행동이상은 AChE 활성 뿐 아니라 MAO활성의 변화에 의한 복합적인 효과일 가능성이 높다.

Effect of $Cd^{2+}$ on the Oocyte Maturation and Developmental Stages of Brown Frog Embryo, Rana dybowskii in vitro ($Cd^{2+}$이 북방산개구리의 난자성숙과 배아발달에 미치는 영향)

  • Ko Sun-Kun
    • Korean Journal of Environment and Ecology
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    • v.20 no.3
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    • pp.345-351
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    • 2006
  • This study investigates the toxic effects of $Cd^{2+}$on frog (Rana dybowskii) by the determination of oocyte maturation and development of embryo exposure to different concentrations of the toxicant. The results show that $Cd^{2+}$ concentration of 0.1ppm suppressed the maturation of the oocytes. To examine the reversibility of the inhibitory effects, the oocytes were exposed to the $Cd^{2+}$ only for 3 hours, and then transferred to plain medium and cultured further for 17 hours. The oocytes were recovered from the toxic effect of the $Cd^{2+}$ when they were exposed to 1ppm, but not to 2.5ppm of the $Cd^{2+}$. The development of 2 cell embryos to 32 cell was completely suppressed at 0.1ppm and the longer the embryos were exposed to the $Cd^{2+}$, the more damage appeared to the embryos and the cytolysis of the 32 cell was induced by $Cd^{2+}$ at 0.1ppm. On the other hand, the embryos of blastula stage were cultured 96 hours in presence of the $Cd^{2+}$ at various concentrations and were examined. The rates of mortality and malformed larvae were investigated by probit analysis. From the results of LC$_{50}$ of 0.1ppm and EC$_{50}$ of 0.08ppm, Tl of 5.0 was derived, which indicates $Cd^{2+}$ is to be considered a teratogenic compound. Such specific malformations occurred in 14.3% as spine deformations at the 0.05ppm, in 75.0% as tail deformations at the 0.1ppm, in 66.7% as abdominal deformations at the 0.01ppm and in 26.0% as profound deformations at the 0.1ppm of $Cd^{2+}$ concentration which living embryos were exposed to. $Cd^{2+}$ suppressed growth to head-tail length at 0.1ppm. In conclusion, The study results reveal that $Cd^{2+}$ must be considered highly toxic effect to oocyte maturation and embryonic development.

A Case of Kabuki Syndrome Confirmed by Genetic Analysis: A Novel Frameshift Mutation in the KMT2D Gene (분자유전학적으로 진단된 가부키 증후군 1례)

  • Park, Su Jin;Ahn, Moon Bae;Jang, Woori;Cho, Won Kyung;Chae, Hyo Jin;Kim, Myung Shin;Suh, Byung Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.17 no.3
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    • pp.103-108
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    • 2017
  • Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.

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Clinical features of congenital muscular torticollis (선천성 근성 사경의 임상적 특징)

  • Jun, Ji Eun;Ryu, Hye Kyeong;Shim, Jae Won;Shim, Jung Yeon;Jung, Hye Lim;Park, Moon Soo;Kim, Deok-Soo
    • Clinical and Experimental Pediatrics
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    • v.50 no.3
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    • pp.241-247
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    • 2007
  • Purpose : Congenital muscular torticollis (CMT) is a common and benign congenital disorder of the musculoskeletal system in neonates and infants. The pathophysiology is that the sternocleidomastoid muscle (SCM) is shortened on the involved side by fibrosis, leading to ipsilateral tilt and contralateral rotation of the face and chin. In this study, we investigated the clinical features of CMT, the role of ultrasonography (USG) in prediction of prognoses and the clinical significance of early detection and treatment. Methods : Forty seven patients (M:F=31:16) were diagnosed as a CMT between March 2003 and May 2006. We reviewed age at diagnosis, physical findings, USG findings, treatment and therapeutic outcome from their medical records. Results : The median age at diagnosis was 90 days (18 days-9 years, 7 months) and the right side of neck was affected in more patients (right : left=26:21). Of 24 patients with a palpable neck mass, 21 had USG; 19 cases showed sternocleidomastoid tumor (SMT). In cases with no neck mass, USG was performed in 11 patients; seven had postural torticollis (POST), three had SMT and one had muscular torticollis (MT). Among 40 patients with follow-up, 36 had total resolution. There was negative correlation between the age at diagnosis and the recovery time, whereas the final outcome was not correlated with USG findings. However, the patients without positive findings in USG had earlier resolution (1 month vs 2.6 months, P=0.0008). The patients with SMT had earlier diagnosis and excellent outcomes. The patients with MT were delayed to diagnosis and had the longest time to resolve. Lastly, the patients with POST had delayed diagnoses, but they had excellent outcomes. Conclusion : Since the patients with delayed diagnoses, in despite of benign courses, may take a long time to resolve and rarely need surgical treatment, it is important to diagnose and treat early. This study showed that USG findings of the SCM may be used as predictive factors.

Developmental Abnormality in Agricultural Region and Toxicity of the Fungicide Benomyl on Korea salamander, Hynobius leechii (한국산 도롱뇽(Hynobius leechii)의 농경지에서의 배 발생 이상과 살균제 Benomyl의 독성효과)

  • Choi, Yeoung-Ju;Yoon, Chun-Sik;Park, Joo-Hung;Jin, Jung-Hyo;Cheong, Seon-Woo
    • Korean Journal of Ecology and Environment
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    • v.35 no.3 s.99
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    • pp.198-212
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    • 2002
  • A numerical variation and abnormalities were studied on egg bags and embryos of Korean salamander, Hynobius leechii from agricultural habitat. The teratogenic and toxic effects of fungicide benomyl were also investigated with early embryos from non-agricultural habitat. We collected 144 egg bags from agricultural region, and 3418 of early embryos were contained. The lengths of egg bags were varied from 10 to 23 cm and the most frequent length was 19 cm. The number of embryos was varied from 7 to 43, and the most frequent range was 22 to 26. Spontaneous abnormalities were occurred in 406 embryos among 116 egg bags, and 24 kinds of external abnormalities were found. Individuals showing severe external defect were histologically studied and they showed optic dyspalsia, thyroid carcinoma, somatic muscular dysplasia, partial biaxial structure, decrease of red blood cells in the heart, cephalic degeneration and intestinal dysplasia. 385 embryos from non-agricultural region were exposed to 200 nM${\sim}$ 1 ${\mu}$M of benomyl at blastula or gastrula for 12 days. All embryo were dead in the concentration of 1 ${\mu}$M (LD$_{100}$) and 75% of embryos were dead in 800nM of benomyl. Speciflc effect due to benomyl was acrania or cephalic dysplasia and this restult suggests that the benomyl inhibit stongly to the development of neural tissue. These abnormal developments may be caused by antimitotic action, inhibition of tubulin complex, destruction of microtubule, inhibitions of neurulation and closing of neural fold, and by the inhibition of the movement of neural crest cells.

Embryonic and Larval Development of Slender Catfish, Silurus microdorsalis Mori, 1936, Endemic to Korea (한국 고유종 미유기(Silurus microdorsalis Mori, 1936)의 난 발생 및 자치어 형태발달)

  • Kang-Rae Kim;Yeong-Ho Kwak;Mu-Sung Sung;Heon Yang;Seong-Jang Cho;Bong Han Yun;In-Chul Bang
    • Korean Journal of Ichthyology
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    • v.35 no.2
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    • pp.91-100
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    • 2023
  • The early life history of Silurus microdorsalis living in Jahocheon Stream was studied by observing egg and morphological development. Live fish were captured in June 2018, then reared in a circulating filtration system under a 14L : 10D photoperiod with a water temperature of 18℃. To artificially induce spawning, females were injected with 0.5 mL of Ovaprim (Syndel, Nanaimo, BC, Canada) per kg of body weight, and males were injected with 10,000 IU/kg body weight of human chorionic gonadotropin. Approximately 15 h later, eggs were artificially inseminated by the dry method. Mature eggs were light pale yellow, which separated them from immature eggs. Fertilized eggs were 2.16±0.06 mm (n=8) in diameter and fully hatched at 181 h after fertilization. The fertilization rate was 63.1±2.2%, and 10.0±3.7% of the embryos were malformed at 18℃. The rates of development were 181 h at 18℃, 109 h at 21℃, and 76 h at 24℃. The larval size immediately after hatching was 4.64±0.22 mm (n=8), and the larvae displayed negative phototaxis at 1 day after hatching. The total larval length on 7 days after hatching was 12.47±0.53 mm, with 25~30 basal anal fin rays and 14~16 basal caudal fin rays observed. The total larval length was 14.13±0.51 mm on 9 days after hatching, and approximately 90% of the black endoplasmic reticulum was deposited on the head and body. The dorsal fin had formed, and a single basal body was observed. On 15 days after hatching, the total larval length was 16.69±0.31 mm; the number of basal caudal fin rays (18 poles) was an integer because 2 dorsal fin basal rays and 60~63 anal fin basal rays were observed. The total larval length was 28.96±1.10 mm on 50 days after hatching; the numbers of caudal fins (n=18), dorsal fins (n=3), pectoral fins (n=11), and anal fin basal rays (n=67~73) were integers.