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A Patient Diagnosed with Spinocerebellar Ataxia Type 5 associated with SPTBN2: Case Report (SPTBN2와 연관된 spinocerebellar ataxia type 5를 진단받은 환자)

  • Hur, Min woo;Ko, Ara;Lee, Hyun Joo;Lee, Jin Sung;Kang, Hoon-Chul
    • Journal of the Korean Child Neurology Society
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    • v.25 no.3
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    • pp.200-203
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    • 2017
  • Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative disorders which disrupt the afferent and efferent pathways of the cerebellum that cause cerebellar ataxia. Spectrin beta non-erythrocytic 2 (SPTBN2) gene encodes the ${\beta}-III$ spectrin protein with high expression in Purkinje cells that is involved in excitatory glutamate signaling through stabilization of the glutamate transporter, and its mutation is known to cause spinocerebellar ataxia type 5. Three years and 5 months old boy with delayed development showed leukodystrophy and cerebellar atrophy in brain magnetic resonance imaging (MRI). Diagnostic exome sequencing revealed that the patient has heterozygous mutation in SPTBN2 (p.Glu1251Gln) which is a causative genetic mutation for spinocerebellar ataxia type 5. With the patient's clinical findings, it seems reasonable to conclude that p.Glu1251Gln mutation of SPTBN2 gene caused spinocerebellar ataxia type 5 in this patient.

Effects of Feeding Silage on Pork Quality by Pig Breeds (사일리지 급여가 돼지 품종별 돈육의 품질에 미치는 영향)

  • Kim, Tae-Wan;Kang, Suk-Nam;Jeong, Jin-Yeon;Kim, Chul-Wook;Jin, Sang-Keun
    • Journal of agriculture & life science
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    • v.45 no.1
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    • pp.79-88
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    • 2011
  • A total of one hundred twenty pigs were used to investigate effects of silage feeding on pork quality among three breeds (Gagoshima Berkshire, American Berkshire, $LY{\times}\;D$). Pigs weighing about 70 kg of body weight were randomly alloted into three breeds [B (Gagoshima Berkshire), D $(LY{\times}\;D)$, A (American Berkshire) by two dietary treatment [C (commercial diet feed) and T (commercial diet with 80% silage)]. All pigs were fed 67 days of period and then slaughtered to examine meat characteristics. A chemical compositions and physico-chemical characteristics were measured in pork loin. The crude protein content was higher in pig fed diets containing silage than that of the control group. $L^*$ of meat color, appearance, meat color, marbling score and overall acceptability in sensory score of fresh meat were higher in the pigs fed silage (T) than those fed commercial diet (C). In fatty acid compositions of loin, stearic acid and oleic acid were lower in T than C, whereas arachidonic acid, EFA (essential fatty acid) and EFA/UFA (unsaturated fatty acid) were higher in T.

Early Diagnosis of KBG Syndrome Using Diagnostic Exome Sequencing (Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단)

  • Hong, Jun Ho;Kim, Se Hee;Lee, Seung Tae;Choi, Jong Rak;Kang, Hoon Chul;Lee, Joon Soo;Kim, Heung Dong
    • Journal of the Korean Child Neurology Society
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    • v.26 no.4
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    • pp.272-275
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    • 2018
  • KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.

Changes in Free Sugar, Coixol Contents and Antioxidant Activities of Adlay Sprout (Coix lacryma-jobi L. var. ma-yuen Stapf.) according to Different Growth Stage (생육시기 별 새싹율무의 유리당, 기능성 성분 및 항산화활성 변화)

  • Lee, Hee Jung;Lee, Jeong Hoon;Jung, Jin Tae;Lee, Yun Ji;Oh, Myeong Won;Chang, Jae Ki;Jeong, Heon Sang;Park, Chun Geon
    • Korean Journal of Medicinal Crop Science
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    • v.27 no.5
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    • pp.339-347
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    • 2019
  • Background: Adlay (Coix lacryma-jobi L. var. ma-yuen Stapf.) is an important medicinal and cereal crop that contains high levels of protein, fatty acids and crude fiber, as well as calcium, phosphorus, zinc, minerals, and essential amino acids. Despite its economic significance, little is known about biological activity in adlay sprouts. This study investigated the total free sugar, polyphenol and flavonoid content, and antioxidative activity in adlay sprouts at different growth stages. Methods and Results: The total free sugar and coixol content of germinated adlay sprouts were analyzed by high performance liquid chromatography. The total phenolic content was measured by the Folin and Denis, and flavonoid content by the Davis method. Antioxidative activity was tested by the 2,2-diphenyl-1-picryl hydrazyl method. All measured component, including total phenolic and coixol content ($2.71{\pm}0.02mg/g$ and $59.70{\pm}0.01mg/g$), and antioxidant capacity ($IC_{50}$; $453.93{\mu}g/m{\ell}$) were highest in 3 day old adlay sprouts. In contrast, total free sugar and flavonoid content (3.02% and $0.60{\pm}0.02mg/g$) were highest in sprouts at 5 days after sowing. In addition, there was a strong positive correlation between antioxidative activity and total polyphenol content (r = 0.902, p < 0.001). Conclusions: Adlay sprouts between 3 days and 5 days following germination contain high levels of functional components and free sugar. This study therefore suggests that adlay sprouts can be developed as a valuable health-promoting food and a good source of natural antioxidants.

Effects of reducing inclusion rate of roughages by changing roughage sources and concentrate types on intake, growth, rumen fermentation characteristics, and blood parameters of Hanwoo growing cattle (Bos Taurus coreanae)

  • Jeon, Seoyoung;Jeong, Sinyong;Lee, Mingyung;Seo, Jakyeom;Kam, Dong Keun;Kim, Jeong Hoon;Park, Jaehwa;Seo, Seongwon
    • Asian-Australasian Journal of Animal Sciences
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    • v.32 no.11
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    • pp.1705-1714
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    • 2019
  • Objective: Reducing roughage feeding without negatively affecting rumen health is of interest in ruminant nutrition. We investigated the effects of roughage sources and concentrate types on growth performance, ruminal fermentation, and blood metabolite levels in growing cattle. Methods: In this 24-week trial, 24 Hanwoo cattle ($224{\pm}24.7kg$) were fed similar nitrous and energy levels of total mixed ration formulated using two kinds of roughage (timothy hay and ryegrass straw) and two types of concentrate mixes (high starch [HS] and high fiber [HF]). The treatments were arranged in a $2{\times}2$ factorial, consisting of 32% timothy-68% HS, 24% timothy-76% HF, 24% ryegrass-76% HS, and 17% ryegrass-83% HF. Daily feed intakes were measured. Every four weeks, blood were sampled, and body weight was measured before morning feeding. Every eight weeks, rumen fluid was collected using a stomach tube over five consecutive days. Results: The mean dry matter intake (7.33 kg) and average daily gain (1,033 g) did not differ among treatments. However, significant interactions between roughage source and concentrate type were observed for the rumen and blood parameters (p<0.05). Total volatile fatty acid concentration was highest (p<0.05) in timothy-HF-fed calves. With ryegrass as the roughage source, decreasing the roughage inclusion rate increased the molar proportion of propionate and decreased the acetate-to-propionate ratio; the opposite was observed with timothy as the roughage source. Similarly, the effects of concentrate types on plasma total protein, alanine transaminase, Ca, inorganic P, total cholesterol, triglycerides, and creatinine concentrations differed with roughage source (p<0.05). Conclusion: Decreasing the dietary roughage inclusion rate by replacing forage neutral detergent fiber with that from non-roughage fiber source might be a feasible feeding practice in growing cattle. A combination of low-quality roughage with a high fiber concentrate might be economically beneficial.

Effect of visual marbling levels in pork loins on meat quality and Thai consumer acceptance and purchase intent

  • Noidad, Sawankamol;Limsupavanich, Rutcharin;Suwonsichon, Suntaree;Chaosap, Chanporn
    • Asian-Australasian Journal of Animal Sciences
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    • v.32 no.12
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    • pp.1923-1932
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    • 2019
  • Objective: We investigated visual marbling level (VML) influence on pork loin physicochemical traits, consumer palatability responses, VML liking, purchase intent, and their relationships. Methods: For each of five slaughtering dates, at 24-h postmortem, nine paired Duroc castrated male boneless Longissimus dorsi (LD) muscles were categorized into low (LM, score 1 to 2, n = 3), medium (MM, score 3 to 4, n = 3), and high (HM, score 5 to 6, n = 3) VML. Meat physicochemical quality traits and consumer responses (n = 389) on palatability and VML liking, and purchase intent were evaluated. The experiment was in randomized complete block design. Analysis of variance, Duncan's multiple mean comparisons, and correlation coefficients were determined. Results: VML correspond to crude fat (r = 0.91, p<0.01), but both were reversely related to moisture content (r = -0.75 and -0.91, p<0.01, respectively). As VML increased, ash (p<0.05) and protein (p = 0.072) decreased, pH and $b^{\star}$ increased (p<0.05), but drip, cooking (p<0.05) and thawing (p = 0.088) losses decreased. Among treatments, muscle fiber diameter, sarcomere length, total and insoluble collagen contents, $L^{\star}$, and $a^{\star}$ did not differ (p>0.05). Compared to the others, HM had lower collagen solubility percentage (p<0.05), but similar (p>0.05) Warner-Bratzler shear force (WBSF). No differences (p>0.05) were found in juiciness, overall flavor, oiliness, and overall acceptability, but HM was more tender (p<0.05) than the others. Based on VML, consumers preferred MM to HM (p<0.05), while LM was similar to MM and HM (p>0.05). Corresponding to VML preference (r = 0.45, p<0.01), consumers (83%) would (p<0.01) definitely and probably buy MM, over LM (74%), and HM (68%), respectively. Conclusion: Increasing VML in pork LD altered its chemical composition, slightly increased pH, and improved water holding capacity, thereby improving its tenderness acceptability. Marbling might reduce chewing resistance, as lower collagen solubility in HM did not impact tenderness acceptability and WBSF. While HM was rated as most tender, consumers visually preferred and would purchase MM.

Bioaccumulation of Heavy Metals in Intestine of Nacella concinna (남극삿갓조개 (Nacella concinna) 장의 중금속 축적에 관한 연구)

  • Lee, Yong-Seok;Jo, Yong-Hun;Han, Yeon-Soo;Kho, Weon-Gyu;Ahn, In-Young;Jeong, Kye-Heon
    • The Korean Journal of Malacology
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    • v.22 no.1 s.35
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    • pp.87-95
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    • 2006
  • Immunohistochemical and ultrastuructural experiments were conducted to find out heavy metal accumulation in the intestine of an Antarctic gastropod Nacella concinna. According to the immune-histochemical experiment the apical cytoplasm of the intestinal epithelium showed positive reactions to anti-MT (rnotallothionein), indicating the presence of MT, a metal-binding protein involved in metal detoxifying process. In the transmission electron microscopic observations, the epithelial cells of the intestine exposed to Cd for over three hours showed irregular nuclear membranes, secretory granules, and probable metal granules. According to the SEM-EDS experiments on the intestine, concentration of Pb in the apical epithelium was in inverse proportion to that in the intestinal lumen. After exposing to Cd for over three days, S was rapidly reduced. Ca and Zn were rapidly increased after exposure to Cd. These elements are supposed to be concerned with the MT-reaction in the intestine. laken together, these data suggest that N. concinna could be used as a potential biomarker species.

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Effect of Alcohol Detoxification Beverage that Contained Bulnesia sarmienti on Alcohol-metabolizing Enzymes and Antioxidant Enzyme Activities (Bulnesia sarmienti 를 함유한 숙취해소 음료가 알코올대사 및 항산화 효소활성에 미치는 영향)

  • Lim, Ae-Kyung;Jung, Mee-Jung;Lee, Jae-Wook;Hong, Joo-Heon;Kim, Kil-Soo;Jung, Seok-Bang;Kim, Dae-Ik
    • Food Science and Preservation
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    • v.18 no.3
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    • pp.407-413
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    • 2011
  • This study was carried out to investigate the effect of a beverage that contained Bulnesia sarmienti(BSP, 2.5%) on rats to which alcohol was administered. The treatment of the BSP group reduced the serum alcohol concentration to 52%, compared to 47% in the positive control(PC) group. Similar pattell1s were observed in the enhancement of alcohol dehydrogenase(ADH), acetaldehyde dehydrogenase(ALDH), alkaline phosphate(ALP), alanine aminotransferase(ALT), asparate aminotransferase(AST), total cholesterol(CHOL), ${\gamma}$-glutamyltrasferase(GGT), glucose(GLU), total bilirubin, and total protein(TP) in the serum. Also, in the BSP group, the lipoxidase(LPO), glutathion-S-transferase(GST), XO, catalase(CAT), and superoxide dismutase(SOD) were significantly reduced, compared to the CO and PC groups in the liver. The glutathione(GSH) activity increased in the BSP group, though. These results indicate that Bulnesia sarmienti extract can enhance alcohol metabolization activity.

Chemical Constituents of Bulb of Lilium lancifolium Thunberg and Lilium tsingtauense Gilg (참나리와 하늘말나리 인경의 성분분석)

  • Park, Tae Young;Seo, Kyoung-Sun;Choi, Seongkyu;Yun, Kyeong Won
    • Korean Journal of Plant Resources
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    • v.27 no.2
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    • pp.125-132
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    • 2014
  • In this study, the chemical constituents of bulb from Lilium lancifolium and Lilium tsingtauense were investigated. The content of moisture, crude protein and fiber of bulb from L. tsingtauense was higher than that of L. lancifolium, whereas the content of crude ash and nitrogen free extract of bulb from L. lancifolium was higher than that of L. tsingtauense. HPLC analysis revealed that total free sugar and amino acid content of bulb from L. tsingtauense was higher than that of L. lancifolium. There was no remarkable difference in proximate composition between the two species. The content of p-coumaric acid and ferulic acid was 1.93 mg% and 0.25 mg% in ethyl acetate fraction of L. lancifolium, on the other hand, 2.94 mg% and 0.46 mg% in ether fraction of L. tsingtauense. These results suggest that the bulb of L. tsingtauense can be considered as promising oriental medicine resource likewise L. lancifolium.

Novel reassortant 2.3.4.4B H5N6 highly pathogenic avian influenza viruses circulating among wild, domestic birds in Xinjiang, Northwest China

  • Zhang, Qian;Mei, Xindi;Zhang, Cheng;Li, Juan;Chang, Nana;Aji, Dilihuma;Shi, Weifeng;Bi, Yuhai;Ma, Zhenghai
    • Journal of Veterinary Science
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    • v.22 no.4
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    • pp.43.1-43.10
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    • 2021
  • Background: The H5 avian influenza viruses (AIVs) of clade 2.3.4.4 circulate in wild and domestic birds worldwide. In 2017, nine strains of H5N6 AIVs were isolated from aquatic poultry in Xinjiang, Northwest China. Objectives: This study aimed to analyze the origin, reassortment, and mutations of the AIV isolates. Methods: AIVs were isolated from oropharyngeal and cloacal swabs of poultry. Identification was accomplished by inoculating isolates into embryonated chicken eggs and performing hemagglutination tests and reverse transcription polymerase chain reaction (RT-PCR). The viral genomes were amplified with RT-PCR and then sequenced. The sequence alignment, phylogenetic, and molecular characteristic analyses were performed by using bioinformatic software. Results: Nine isolates originated from the same ancestor. The viral HA gene belonged to clade 2.3.4.4B, while the NA gene had a close phylogenetic relationship with the 2.3.4.4C H5N6 highly pathogenic avian influenza viruses (HPAIVs) isolated from shoveler ducks in Ningxia in 2015. The NP gene was grouped into an independent subcluster within the 2.3.4.4B H5N8 AIVs, and the remaining six genes all had close phylogenetic relationships with the 2.3.4.4B H5N8 HPAIVs isolated from the wild birds in China, Egypt, Uganda, Cameroon, and India in 2016-2017, Multiple basic amino acid residues associated with HPAIVs were located adjacent to the cleavage site of the HA protein. The nine isolates comprised reassortant 2.3.4.4B HPAIVs originating from 2.3.4.4B H5N8 and 2.3.4.4C H5N6 viruses in wild birds. Conclusions: These results suggest that the Northern Tianshan Mountain wetlands in Xinjiang may have a key role in AIVs disseminating from Central China to the Eurasian continent and East African.