• 제목/요약/키워드: growth disorders

검색결과 311건 처리시간 0.027초

A case with GRIN2A mutation and its non-neurological manifestations

  • Lee, Soo Yeon;Jung, So Yoon;Lee, Jeongho
    • Journal of Genetic Medicine
    • /
    • 제17권2호
    • /
    • pp.79-82
    • /
    • 2020
  • In epilepsy-aphasia spectrum (EAS) disorders, mutations in the glutamate receptor ionotropic N-methyl-D-aspartate type subunit 2A (GRIN2A) have become important for screening the disease. Research into the phenotypic variability of several types of neurologic impairment involving these mutations is in progress. However, the non-neurological problems related to these mutations are poorly understood. EAS disorders usually have epileptic, cognitive, or behavioral manifestations. In this case report, we present a female patient with epilepsy, delay in expressive language and social development, and intellectual disability with low intelligence quotient and memory quotient, but normal motor development. Through genetic analysis, she was found to have a missense and a nonsense mutation in GRIN2A (c.1770A>C; p.Lys509Asn and c.3187G>T; p.Glu1063∗, respectively) and we consider the nonsense mutation as 'pathogenic variant'. She was also discovered to have congenital hypothyroidism, growth hormone deficiency and Rathke's cleft cyst in the brain, which were previously unknown features of GRIN2A mutation. Our findings should widen understanding of the spectrum of GRIN2A phenotypes, and emphasize the need for more research into the association between GRIN2A mutations and non-neurologic clinical presentations.

Association of Fatty Acid Ethyl Esters in Meconium of Neonates with Growth Deficits at Birth: a Prospective, Single-Centre Cohort Study

  • Lee, Hyun-Seung;Kim, Yeon Hee;Kwak, Ho-Seok;Han, Jung-Yeol;Jo, Sun-Jin;Lee, Hae Kook
    • Journal of Korean Medical Science
    • /
    • 제33권50호
    • /
    • pp.318.1-318.10
    • /
    • 2018
  • Background: In this prospective cohort study, we investigated the association between fatty acid ethyl esters (FAEEs) in meconium as biomarkers of prenatal ethanol exposure and growth deficits, as birth outcomes, that constitute several of the key cardinal features of fetal alcohol syndrome. Methods: A total of 157 meconium samples were collected from enrolled infants within 24 hours of birth, and nine FAEEs were quantified using liquid chromatography/tandem mass spectrometry. The relationships between cumulative concentrations of nine species of FAEEs in meconium and birth parameters of growth (age-sex-specific centiles of head circumference [HC], weight, and length) and respective and combined birth outcomes of growth deficits (HC ${\leq}10th$ centile, weight ${\leq}10th$ centile, and length ${\leq}10th$ centile) were determined. Results: Multivariate logistic regression analysis demonstrated that higher cumulative concentrations of meconium FAEEs correlated with elevated risks for HC and length, both, 10th percentile or less (adjusted odds ratio [aOR], 2.94; 95% confidence interval [CI], 1.12-7.74; P = 0.029) and HC and weight and length, all of them, 10th percentile or less (aOR, 3.27; 95% CI, 1.12-9.59; P = 0.031). Conclusion: The elevated cumulative FAEEs in meconium were associated with combined growth deficits at birth, specifically HC and length, both, 10th percentile or less, which might be correlated with detrimental alcohol effects on fetal brain and bone development, suggesting a plausible alcohol-specific pattern of intrauterine growth restriction.

The In Vivo and In Vitro Effects of Terminalia bellirica (Gaertn.) Roxb. Fruit Extract on Testosterone-Induced Hair Loss

  • Min Jeong Woo;Ha Yeong Kang;So Jeong Paik;Hee Jung Choi;Salah Uddin;Sangwoo Lee;Soo-Yong Kim;Sangho Choi;Sung Keun Jung
    • Journal of Microbiology and Biotechnology
    • /
    • 제33권11호
    • /
    • pp.1467-1474
    • /
    • 2023
  • Due to the continuous increase in patients with androgenetic alopecia (AGA) and psychological disorders such as depression and anxiety, the demand for hair loss treatment and effective hair growth materials has increased. Terminalia bellirica (Gaertn.) Roxb. (TBE) reportedly exerts anti-inflammatory, hepatoprotective, and antidiabetic effects, among others, but its effects on testosterone (TS)-inhibited hair growth remains unclear. In this study, we evaluated the effects of TBE on TS-induced hair growth regression in human follicle dermal papilla cells (HFDPCs) and C57BL/6 mice. Oral administration of TBE increased TS-induced hair growth retardation. Interestingly, effects were greater when compared with finasteride, a commercial hair loss treatment product. Histological analyses revealed that oral TBE administration increased hair follicles in the dorsal skin of C57BL/6 mice. Additionally, western blotting and immunofluorescence showed that oral TBE administration recovered the TS-induced inhibition of cyclin D1, proliferating cell nuclear antigen (PCNA), and Ki67 expression in vivo. Using in vitro proliferation assays, TBE promoted HFDPC growth, which was suppressed by TS treatment. Thus, TBE may be a promising nutraceutical for hair health as it promoted hair growth in AGA-like in vitro and in vivo models.

항결핵제(抗結核劑)의 결핵균(結核菌)에 대(對)한 작용(作用) 및 미세구조(微細構造) 변화(變化) (Mode of Action of Antituberculosis Drugs and Ultrastructure of Mycobacterium tuberculosis)

  • 등영건;정성덕;김성광
    • Applied Microscopy
    • /
    • 제8권1호
    • /
    • pp.1-8
    • /
    • 1978
  • The aim of this research was to discover the action mechanism of various antituberculosis agents (isoniazid, paraaminosalicylic acid and streptomycin) which act on Mycobacteria tuberculosis hominis $H_{37}R_v$ and also to study the relationship of ultrastructural changes and the growth pattern in Mycobacterium tuberculosis hominis. The ultrastructural change was observed with an electron microscope while the growth pattern was studied through in vitro culture. The results are summarized as follows: 1. The ultrastructural changes found in the group treated only with isoniazid were the loss of nuclear materials and the appearence of electron dense granules. 2. In the group treated with paraaminosalicylic acid, thickening of nuclear filaments and meso some arrangement disorders were observed. 3. In the group treated with streptomycin, the ribosome particles appeared indistinct and the cytoplasm was denaturalized. 4. In the group cross treated with all three agents, all the ultrastructural changes mentioned above could be observed in the cell just as they appeared in the single treated groups. 5. In all of the single and in the crossly treated group, there were no significant changes note in the cell wall or cytoplasmic membranes of any of the cells observed. 6. In the cultural data in vitro, through the crossly treated group and single treated group. growth was observed in 3-5 weeks of culture.

  • PDF

Physiological roles of N-acetylglucosaminyltransferase V (GnT-V) in mice

  • Miyoshi, Eiji;Terao, Mika;Kamada, Yoshihiro
    • BMB Reports
    • /
    • 제45권10호
    • /
    • pp.554-559
    • /
    • 2012
  • Oligosaccharide modification by N-acetylglucosaminyltransferase-V (GnT-V), a glycosyltransferase encoded by the Mgat5 gene that catalyzes the formation of ${\beta}1$,6GlcNAc (N-acetylglucosamine) branches on N-glycans, is thought to be associated with cancer growth and metastasis. Overexpression of GnT-V in cancer cells enhances the signaling of growth factors such as epidermal growth factor by increasing galectin-3 binding to polylactosamine structures on receptor N-glycans. In contrast, GnT-V deficient mice are born healthy and lack ${\beta}1$,6GlcNAc branches on N-glycans, but develop immunological disorders due to T-cell dysfunction at 12-20 months of age. We have developed Mgat5 transgenic (Tg) mice (GnT-V Tg mice) using a ${\beta}$-actin promoter and found characteristic phenotypes in skin, liver, and T cells in the mice. Although the GnT-V Tg mice do not develop spontaneous cancers in any organs, there are differences in the response to external stimuli between wild-type and GnT-V Tg mice. These changes are similar to those seen in cancer progression but are unexpected in some aspects. In this review, we summarize what is known about GnT-V functions in skin and liver cells as a means to understand the physiological roles of GnT-V in mice.

Growth of Nanocrystalline Graphite on Sapphire by Solid Carbon Source Molecular Beam Epitaxy

  • Jerng, S.K.;Yu, D.S.;Kim, Y.S.;Ryou, Jung-A;Hong, Suk-Lyun;Kim, C.;Yoon, S.;Efetov, D.K.;Kim, P.;Chun, S.H.
    • 한국진공학회:학술대회논문집
    • /
    • 한국진공학회 2011년도 제40회 동계학술대회 초록집
    • /
    • pp.51-51
    • /
    • 2011
  • We have grown nanocrystalline graphite on sapphire substrate by using solid carbon source molecular beam epitaxy. Changes of structure from amorphous carbon to nanocrystalline graphite controlled by the growth temperature have been investigated by Raman spectroscopy. Raman spectra show D, G, and 2D peaks, whose intensities vary on the growth temperature. Atomic force microscopy reveals that the surface is very flat. Sapphire substrates of different cutting direction produce similar results. Simulations suggest that the interaction between carbon and oxygen causes disorders. Electrical transport measurements exhibit a Dirac-like peak, including a carrier type change by an external gate voltage bias.

  • PDF

인삼의 수분생리 III. 토양수분, 생리장해, 병해충과 품질 (Water Physiology of Panax ginseng III. Soil moisture, physiological disorder, diseases, insects and quality)

  • 박훈
    • Journal of Ginseng Research
    • /
    • 제6권2호
    • /
    • pp.168-203
    • /
    • 1982
  • Effects of soil moisture on growth of Panax ginseng, of various factors on soil moisture, and of moisture on nutrition, quality, physiological disorder, diseases and insect damage were reviewed. Optimum soil moisture was 32% of field capacity with sand during seed dehiscence, and 55-65% for plant growth in the fields. Optimum soil moisture content for growth was higher for aerial part than for root and higher for width than for length. Soil factors for high yield in ginseng fields appeared to be organic matter, silt, clay, agreggation, and porosity that contributed more to water holding capacity than rain fall did, and to drainage. Most practices for field preparation aimed to control soil moisture rather than nutrients and pathogens. Light intensity was a primary factor affecting soil moisture content through evaporation. Straw mulching was best for the increase of soil moisture especially in rear side of bed. Translocation to aerial part was inhibited by water stress in order of Mg, p, Ca, N an Mn while accelerated in order of Fe, Zn and K. Most physiological disorders(leaf yellowing, early leaf fall, papery leaf spot, root reddening, root scab, root cracking, root dormancy) and quality factors were mainly related to water stress. Most critical diseases were due to stress, excess and variation of soil water, and heavy rain fall. The role of water should be studied in multidiciplinary, especially in physiology and pathology.

  • PDF

매실 추출물을 함유한 음료가 식중독 유발균의 성장에 미치는 영향 (Effect of Prunus mume Extract Containing Beverages on the Proliferation of Food-borne Pathogens)

  • 배지현;김기진
    • 동아시아식생활학회지
    • /
    • 제9권2호
    • /
    • pp.214-222
    • /
    • 1999
  • Prunus mume has been used for the folk medicine by many old civilizations to treat food-borne diseases or enteric disorders. The purpose of this study was to investigate the antimicrobial activity of beverages containing Prunus mume extracts against Staphylococcus aureus, Shigella dysenteriae, Shigella flexneri, Shigella sonnei, Escherichia coli and Pseudomonas aeruginosa. Seven different types of Prunus mume extracts containing beverages have been prepared for the test in which minimum inhibitory concentration for each microorganism has been determined by serial dilution method using either TSA or TSB medium. Pseudomonas aeruginosa showed least resistance and 0.3g/$m\ell$ concentrations of 5% Prunus mume extracts containing beverage had antimicrobial property against the organism. Beverages containing more than 15% of Prunus mume extracts showed antimicrobial activity against all tested microorganisms at the MIC value of less than 0.25g/$m\ell$. The effect of Prunus mume on the growth of food-borne pathogens has been also studied using a spectrophotometer. In the growth assay, each of the Prunus mume extracts containing beverage was added to the medium at the concentration of 25% (v/v). Beverage containing 20% Prunus mume extracts showed inhibitory effect on the growth of all tested microorganisms.

  • PDF

초.중학생을 위한 보건교육의 영역 및 주요개념 선정을 위한 일 연구 (A Study on the Selection of Health topic areas and major concepts for Health Education in Primary and Junior High Schools)

  • 이경자
    • 보건교육건강증진학회지
    • /
    • 제7권1호
    • /
    • pp.10-26
    • /
    • 1990
  • In Korean education, the health contents are scattered in various course subjects throughtout the primary and junior high school curriculum. So it is very difficult to provide systematic health education. The purpose of this study was to provide a guide for health education using health topic areas and major concepts that represent the scope of material that should be covered in health instruction. The steps used in selecting these health topic areas and major concepts were as follows: 1. A review of the literature related to health and health education was done to develop the rationale underlying this study. 2. Health topic areas basic to the growth and development characteristics of children, to human needs and to societal needs for healthful living were indentified. 3. The major concepts for each health topic area based on health sciences and children's growth and development levels were selected. 4. The major concepts selected were organized in sequence to guide health education from grade one to grade nine. The results of this study were as follows: 1. The identification of eleven health topic areas essential for health education. These include: personal habits and health healthy growth and development nutrition and health prevention of disease and disorders drugs and health mental health family life and health sex education accident prevention consumer health community health 2. The identification of the major concepts(generalizations) for each health topic area: 33 major concepts were identified as a guide in determining the health content of health education programs. These are 1) body cleaniness, 2) health of the sensory organs, 3) dental health, 4) exercise and rest, 5) growth and development, 6) body structure and function, 7) developmental tasks, 8) balanced nutrition, 9) eating habits, 10) food preparation and food storage, 11) sources of disease and disorders, 12) disease preventive behavior, 13) care during illness, 14) drug use and misuse, 15) drug addiction, 16) emotional responses, 17) human relationship, 18) self concept, 19) social adjustment, 20) health habits of the family, 21) interdependence of family members, 22) origin of life, 23) characteristics of man and woman, 24) sexual instinct, 25) safety behavior, 26) emergency measures, 27) criteria for selection of health products, 28) proper use of health information, 29) utilization of health and medical services, 30) environmental conservation, 31) environmental pollution, 32) population control, 33) function of public health services. 3. The organization of the concepts(generalizations) in sequence and for continuity in health instruction at the primary and junior high school level.

  • PDF

악안면 형태에 대한 상악 제1대구치 발육장애의 영향 (Effect of Developmental Disorders of Maxillary First Molars on Orofacial Morphology)

  • 박소영;정태성;김지연;김신
    • 대한소아치과학회지
    • /
    • 제46권2호
    • /
    • pp.209-218
    • /
    • 2019
  • 이 연구의 목적은 상악 제1대구치의 결손 또는 발육 지연을 보이는 증례에서 나타나는 악안면 형태를 평가하는 것이다. 2006년부터 2017년 8월까지 부산대학교치과병원 소아치과에 내원한 어린이 2983명의 교정 진단자료를 후향적으로 평가하여 상악 제1대구치가 편측 또는 양측으로 결손되거나 발육지연을 보이는 34명을 선정하였다. Demirjian 법을 응용하여 상하악 치령을 추정하고 역령과 비교하였다. 측방두부규격방사선사진 계측을 통해 골격 및 치아치조적 부조화를 반영하는 지표들을 평가하였고, 전치부 교합관계를 확인하였다. 상악 치령은 역령과 비교할 때 유의하게 낮았다. 골격성 개방교합 경향 및 상악 열성장형 골격성 III급 부정교합을 나타내는 지표가 통계적으로 유의하였다. 전치부 피개는 반대교합과 절단교합이 주로 나타났지만, 보상에 의해 정상 피개를 보이는 증례도 있었다. 상악 제1대구치의 선천결손 및 발육지연은 상악골의 성장에 영향을 줄 가능성이 있다고 판단되었다. 따라서 제1대구치의 발육장애가 확인될 경우 사춘기 동안의 악안면 성장을 주의 깊게 관찰해야 하며 적절한 시기에 교정치료를 고려하는 것이 필요하다고 사료되었다.