• Title/Summary/Keyword: Family Deficiency

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Interim Report about The Comparative Clinical Study of Efficacy of Gamisoyo-san(Jiaweixiaoyaosan) on Anxiety of Generalized Anxiety disorder (범불안장애의 불안증상에 대한 가미소요산의 제형별 효능 비교 임상연구의 중간보고)

  • Lim, Jung-Hwa;Seo, Bok-Nam;Lee, Sang-Ryong;Jung, In-Chul
    • Journal of Oriental Neuropsychiatry
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    • v.21 no.3
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    • pp.29-44
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    • 2010
  • Objectives : The purpose of this research is to examine the efficacy of Gamisoyosan on anxiety of generalized anxiety disorder according to dosage form. Methods : In this randomized, double blinded, placebo-controlled study, we planned to give Gamisoyosan simple extract mixture or Gamisoyosan compound extract or controlled medication for major symptoms of generalized anxiety disorder. As preparatory research, Hamilton rating Scale for Anxiety(HAM-A) was measured as the 1st evaluative instrument, and Korean State-Trait Anxiety Inventory(STAI-K), Penn State Worry Questionnaire(PSWQ) Korean Beck's Depression Inventory (BDI-K), Symptom Checklist-90-Revised(SCL-90R), WHO Quality of Life Abbreviated(WHOQOL-BREF) and Heart Rate Variability(HRV) were also measured as the 2nd evaluative instrument at the before treatment. Results : Demographic characteristics showed that there are Clinical characteristics-vital signs are within the normal range. The characteristics of disease-chief complaint, pattern Identification and etiological factor of the highest frequency number were worry, heart deficiency with timidity(心膽虛怯), family matters. The average period of disease in subjects is 6.31years. The results of Chest PA, EKG and clinicopathologic examination are within the reference range. The Scores of HAM-A, STAI-K, PSWQ were measured above the cutoff point. There are significant positive correlations among HAM-A, STAI-K, BDI-K and among HAM-A, STAI-K, PSWQ. There are no significant correlations between PSWQ and BDI-K. Conclusions : We considered that selection of subjects in this research is appropriately accomplished And this methodology is expected to be applied to the subsequent research. And also, we hope to make up for this study through various study and discussion.

A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease

  • Kwon, Soonhak;Park, Jin-Sung;Jung, Jae Hun;Hwang, Su Kyeong;Kim, Yeo Hyang;Lee, Yun Jeong
    • Journal of Genetic Medicine
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    • v.15 no.1
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    • pp.28-33
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    • 2018
  • Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of ${\alpha}$-galactosidase A. Patients with classical FD present acroparesthesia, hypohidrosis, cornea verticillata, disseminated angiokeratoma, and microalbuminuria in childhood, and develop life-threatening renal, cardiac, and cerebrovascular complications typically after the fourth decade of life. To date, more than 700 mutations responsible for FD have been identified in the human GLA gene. Herein, we report a novel GLA mutation, c.1117_1141del25 (p.Gly373Profs*10), identified in an 11-year-old Korean boy with FD presenting early cardiac and neurologic manifestation and in other affected family members. The boy had acroparesthesia, hypohidrosis, cornea verticillata, and left ventricular hypertrophy. His mother and sister also had acroparesthesia. Two males on the mother's side had similar pain and died of unknown causes. The plasma ${\alpha}$-galactosidase A activity (4.1 nmol/hr/mg protein) of the patient was markedly lower than the mean value of the controls. The plasma level of globotriaosylsphingosine was elevated in the patient and all the carriers. We concluded the novel GLA mutation c.1117_1141del25 is a pathogenic mutation for FD, probably related to the early cardiac manifestation of FD.

Effects of Frequent Eating-out and Breakfast Skipping on Body Mass Index and Nutrients Intake of Working Male Adults: Analysis of 2001 Korea National Health and Nutrition Survey Data (직업 남성의 잦은 외식과 아침결식이 체질량지수 및 영양소 섭취에 미치는 영향 - 2001년 국민건강영양조사자료 분석)

  • Lee, Joung-Won
    • Korean Journal of Community Nutrition
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    • v.14 no.6
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    • pp.789-797
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    • 2009
  • In order to investigate the effects of frequent eating-out and breakfast skipping of working men on body mass index and nutrients intake status, working male adults aged 20 or over were selected (n = 1883) from the data of 2001 Korea national health and nutrition survey. The subjects were divided into 4 groups according to the eating-out frequency(high: once or more daily, low: less than once daily) and breakfast eating or not. Four groups were high eating-out with breakfast eating (n = 609), high eating-out with breakfast skipping (n = 192), low eating-out with breakfast eating (n = 877), and low eating-out with breakfast skipping (n = 205). High eating-out group showed higher body mass index (BMI) than low eating-out group, but the difference of BMI was disappeared when adjusted with age, residence region and family income. However high eating-out group in case of breakfast eating, compared with the low eating-out, showed higher intakes or densities of energy, fat, fat-energy% and higher ratio of energy-fat overintake, and also showed higher mean nutritional adequacy ratio and lower ratio of nutrients intake deficiency. Calcium, iron, vitamin A and C intakes were not affected by eating-out frequency, but were lowered by breakfast skipping. Breakfast skipping also decreased intake frequency of unprocessed cereals and increased those of ramyon and carbonated and alcoholic beverages. From the results frequent eating-out with breakfast eating caused increased intakes of energy and fat, but did not cause BMI increase. Breakfast skipping, but not eating-out, had negative influences on mineral and vitamin intakes. Accordingly good eating-out as well as breakfast eating should be exceedingly emphasized at nutrition education for the working males.

Functional Analysis of the High Affinity Phosphate Transporter Genes Derived from Oryza sativa in Arabidopsis thaliana. (애기장대에서의 벼 유래의 고친화성 인산 운반체 유전자들의 기능 분석)

  • Seo, Hyoun-Mi;Jung, Yun-Hui;Kim, Yun-Hye;Kwon, Tack-Min;Jeong, Soon-Jae;Yi, Young-Byung;Kim, Doh-Hoon;Nam, Jae-Sung
    • Journal of Life Science
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    • v.18 no.4
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    • pp.488-493
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    • 2008
  • Phosphate, a favorable phosphorous form for plant, is one of major nutrient elements for growth and development in plants. Plants exhibit various physiological and biochemical responses in reaction to phosphate starvation in order to maintain phosphate homeostasis. Of them, expression of high affinity phosphate transporter gene family and efficient uptake of phosphate via them is a major physiological process for adaption to phosphate deficient environment. Although the various genetic resources of high affinity phosphate transporter are identified recently, little is known about their functions in plant that is prerequisite information before applying to crop plants to generate valuable transgenic plants. We demonstrated that Arabidopsis transgenic plants over-expressing two different high affinity phosphate transporter gens, OsPT1 and OsPT7, derived from rice, exhibit better growth responses compared with wild-type under phosphate starvation condition. Specially, OsPT7 gene has proven to be more effective to generate Arabidopsis transgenic plant tolerant to phosphate deficiency than OsPT1. Furthermore, the expression level of AtPT1 gene that is one of reporter genes specifically induced by phosphate starvation was significantly low compared with wild-type during phosphate starvation. Taken together, these results collectively suggest that over expression of OsPTl and OsPT7 genes derived from monocotyledonous plant function efficiently in the dicotyledonous plant, relieving stress response caused by phosphate starvation and leading to better growth rate.

Rab25 Deficiency Perturbs Epidermal Differentiation and Skin Barrier Function in Mice

  • Jeong, Haengdueng;Lim, Kyung-Min;Goldenring, James R.;Nam, Ki Taek
    • Biomolecules & Therapeutics
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    • v.27 no.6
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    • pp.553-561
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    • 2019
  • Rab25, a member of the Rab11 small GTPase family, is central to achieving cellular polarity in epithelial tissues. Rab25 is highly expressed in epithelial cells of various tissues including breast, vagina, cervix, the gastrointestinal tract, and skin. Rab25 plays key roles in tumorigenesis, mainly by regulating epithelial differentiation and proliferation. However, its role in skin physiology is relatively unknown. In this study, we demonstrated that Rab25 knock-out (KO) mice show a skin barrier dysfunction with high trans-epidermal water loss and low cutaneous hydration. To examine this observation, we investigated the histology and epidermal differentiation markers of the skin in Rab25 KO mice. Rab25 KO increased cell proliferation at the basal layer of epidermis, whereas the supra-basal layer remained unaffected. Ceramide, which is a critical lipid component for skin barrier function, was not altered by Rab25 KO in its distribution or amount, as determined by immunohistochemistry. Notably, levels of epidermal differentiation markers, including loricrin, involucrin, and keratins (5, 14, 1, and 10) increased prominently in Rab25 KO mice. In line with this, depletion of Rab25 with single hairpin RNA increased the expression of differentiation markers in a human keratinocyte cell line, HaCaT. Transcriptomic analysis of the skin revealed increased expression of genes associated with skin development, epidermal development, and keratinocyte differentiation in Rab25 KO mice. Collectively, these results suggested that Rab25 is involved in the regulation of epidermal differentiation and proliferation.

Deficiency of Anoctamin 5/TMEM16E causes nuclear positioning defect and impairs Ca2+ signaling of differentiated C2C12 myotubes

  • Phuong, Tam Thi Thanh;An, Jieun;Park, Sun Hwa;Kim, Ami;Choi, Hyun Bin;Kang, Tong Mook
    • The Korean Journal of Physiology and Pharmacology
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    • v.23 no.6
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    • pp.539-547
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    • 2019
  • Anoctamin 5 (ANO5)/TMEM16E belongs to a member of the ANO/TMEM16 family member of anion channels. However, it is a matter of debate whether ANO5 functions as a genuine plasma membrane chloride channel. It has been recognized that mutations in the ANO5 gene cause many skeletal muscle diseases such as limb girdle muscular dystrophy type 2L (LGMD2L) and Miyoshi muscular dystrophy type 3 (MMD3) in human. However, the molecular mechanisms of the skeletal myopathies caused by ANO5 defects are poorly understood. To understand the role of ANO5 in skeletal muscle development and function, we silenced the ANO5 gene in C2C12 myoblasts and evaluated whether it impairs myogenesis and myotube function. ANO5 knockdown (ANO5-KD) by shRNA resulted in clustered or aggregated nuclei at the body of myotubes without affecting differentiation or myotube formation. Nuclear positioning defect of ANO5-KD myotubes was accompanied with reduced expression of Kif5b protein, a kinesin-related motor protein that controls nuclear transport during myogenesis. ANO5-KD impaired depolarization-induced $[Ca2^{+}]_i$ transient and reduced sarcoplasmic reticulum (SR) $Ca^{2+}$ storage. ANO5-KD resulted in reduced protein expression of the dihydropyridine receptor (DHPR) and SR $Ca^{2+}-ATPase$ subtype 1. In addition, ANO5-KD compromised co-localization between DHPR and ryanodine receptor subtype 1. It is concluded that ANO5-KD causes nuclear positioning defect by reduction of Kif5b expression, and compromises $Ca^{2+}$ signaling by downregulating the expression of DHPR and SERCA proteins.

Celiac disease in children: increasing prevalence and changing clinical presentations

  • Isa, Hasan M.;Farid, Eman;Makhlooq, Jaafar J.;Mohamed, Afaf M.;Al-Arayedh, Jumana G.;Alahmed, Fawzeya A.;Medani, Shima
    • Clinical and Experimental Pediatrics
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    • v.64 no.6
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    • pp.301-309
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    • 2021
  • Background: Celiac disease (CD) is a chronic autoimmune enteropathy. It results from genetic predisposition and exposure to gluten-containing food. The prevalence and presentation of CD vary among populations. Purpose: This study aimed to describe the prevalence and clinical characteristics of CD in children in Bahrain. Methods: We retrospectively reviewed the medical records of children diagnosed with CD in the pediatric department, Salmaniya Medical Complex, Bahrain, in 1988-2018. Their clinical, biochemical, serological, and histopathological findings were documented. Adherence to the recommended gluten-free diet (GFD) was assessed. Results: Of 86 patients with CD, 67 were included. The CD prevalence was 0.02%. A significant increase in prevalence in the last decade was observed (P<0.0001). Thirty-eight patients (56.7%) were males. The median (interquartile range) age at presentation was 4.45 (1.5-7.3) years. A family history of CD was positive in 13 out of 43 patients (30.2%). Pallor and failure to thrive were the most common presentations. The most frequent associated disease was iron-deficiency anemia in 23 patients (69.7%). Positive serology was found in 32 of 45 patients (71.1%). Marsh-Oberhuber type III was found in 16 of 35 patients (45.7%). Seropositive patients were significantly older (P=0.025) and had more severe duodenal histology (P=0.002). Adherence to GFD was poor in 27 patients (64.3%). Conclusion: This study revealed a significant increase in CD prevalence over the last decade. Atypical presentations were frequent. Most patients had poor adherence to GFD.

Transcriptomic analysis of the liver in aged laying hens with different intensity of brown eggshell color

  • Han, Gi Ppeum;Kim, Jun-Mo;Kang, Hwan Ku;Kil, Dong Yong
    • Animal Bioscience
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    • v.34 no.5
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    • pp.811-823
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    • 2021
  • Objective: Eggshell color is an important indicator of egg quality for consumers, especially for brown eggs. Various factors related to laying hens and their environment affect brown eggshell coloration. However, there have been no studies investigating hepatic functions of laying hens with variable intensity of brown eggshell color. Therefore, this study was aimed to identify potential factors affecting brown eggshell coloration in aged laying hens at the hepatic transcriptomic level. Methods: Five hundred 92-wk-old Hy-line Brown laying hens were screened to select laying hens with different intensity of brown eggshell color based on eggshell color fans. Based on eggshell color scores, hens with dark brown eggshells (DBE; eggshell color fan score = 14.8) and hens with light brown eggshells (LBE; eggshell color fan score = 9.7) were finally selected for the liver sampling. We performed RNA-seq analysis using the liver samples through the paired-end sequencing libraries. Differentially expressed genes (DEGs) profiling was carried out to identify their biological meaning by bioinformatics. Results: A total of 290 DEGs were identified with 196 being up-regulated and 94 being down-regulated in DBE groups as compared to LBE groups. The Kyoto encyclopedia of genes and genomes (KEGG) analysis revealed that these DEGs belong to several biological pathways including herpes simplex infection (toll-like receptor 3 [TLR3], cyclin-dependent kinase 1, etc.) and influenza A (TLR3, radical S-adenosyl methionine domain containing 2, myxovirus [influenza virus] resistance 1, etc.). Genes related to stress response (ceremide kinase like) and nutrient metabolism (phosphoenolpyruvate carboxy-kinase 1, methylmalonic aciduria [cobalamin deficiency] cblB type, glycine receptor alpha 2, solute carrier family 7 member 11, etc.) were also identified to be differentially expressed. Conclusion: The current results provide new insights regarding hepatic molecular functions related to different intensity of brown eggshell color in aged laying hens. These insights will contribute to future studies aiming to optimize brown eggshell coloration in aged laying hens.

Evidence and suggestions for establishing vitamin D intake standards in Koreans for the prevention of chronic diseases

  • Kim, Jung Hyun;Park, Hyoung Su;Pae, Munkyong;Park, Kyung Hee;Kwon, Oran
    • Nutrition Research and Practice
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    • v.16 no.sup1
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    • pp.57-69
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    • 2022
  • BACKGROUND/OBJECTIVES: Vitamin D is produced in the skin during sun exposure and is also ingested from foods. The role of vitamin D needs to be considered in the prevention and management of various diseases. Moreover, since the majority of Koreans spend their days indoors, becoming susceptible to the risk of vitamin D deficiency. The current study aims to prepare a basis for determining dietary reference intake of vitamin D in Korea, by reviewing the evidence against various diseases and risks. MATERIALS/METHODS: Literature published in Korea and other countries between 2014 and 2018 was prioritized based on their study design and other criteria, and evaluated using the RoB 2.0 assessment form and United States Department of Agriculture Nutrition Evidence Library Conclusion Statement Evaluation Criteria. RESULTS: Of the 1,709 studies, 128 studies were included in the final systematic analysis after screening. To set the dietary reference intakes of vitamin D based on the selected articles, blood 25(OH)D levels and indicators of bone health were used collectively. Blood vitamin D levels and ultraviolet (UV) exposure time derived from the Korean National Health and Nutrition Examination Survey were analyzed to establish the dietary reference intakes of vitamin D for each stage of the life cycle. The adequate intake levels of vitamin D, according to age and gender, were determined to be in the range of 5-15 ㎍/day, and the tolerable upper intake level was established at 25-100 ㎍/day. CONCLUSIONS: The most important variable for vitamin D nutrition is lifestyle. A balanced diet comprising foods with high contents of vitamin D is important, as is vitamin D synthesis after UV exposure. The adequate intake level of vitamin D mentioned in the 2015 Dietary Reference Intakes for Korean (KDRI) remained unchanged in the 2020 KDRI for the management of vitamin D nutrition in Koreans.

Present Status of Rooftop Gardening in Sylhet City Corporation of Bangladesh: an Assessment Based on Ecological and Economic Perspectives

  • Rahman, Md. Habibur;Rahman, Mizanur;Kamal, Md. Mostafa;Uddin, Md. Jasim;Fardusi, Most. Jannatul;Roy, Bishwajit
    • Journal of Forest and Environmental Science
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    • v.29 no.1
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    • pp.71-80
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    • 2013
  • Present study analyzes the rooftop gardening status, floristic composition and cost and return of the rooftop garden in Sylhet City Corporation of northeastern Bangladesh. Data was collected from 450 rooftop gardeners randomly during July-September 2010. Study reveal that rooftop gardening is generally for mental satisfaction (95.3%) followed by leisure time activity (87.8%) in the study area and almost all the family members of gardeners' were involved; while collection of planting materials, sites preparation and marketing of products were reported to be carried out by males only (male 71.33%). Middle income classes were most interested in rooftop gardening (43.78%). The survey recorded 53 plant species (35 families) of which Cucurbitaceae family represented highest eight species. Shrubs (28%) were highest followed by herbs (26%) among agri-crops (36%) and flower species (30%). About 89% of the rooftop gardeners procured planting materials from nursery, market, fair, neighbor, relative and friends and they mostly prefer to use seedlings (48%) for roof gardening followed by direct seed sowing (21%). Gardeners sell products sporadically in different local markets, directly or through intermediaries, with no uniform pricing for system. Rooftop gardening improves the food security and meet nutritional deficiency to the gardeners. Survey revealed that generally very few people consider rooftop gardening commercially to get profit and from the cost-return analysis this gardening system can be economically viable if proper and scientifically managed. The study conclude that active government and NGOs could play vital role to increasing this activities by providing training and motivate people with technical aspects of rooftop gardening.