• Title/Summary/Keyword: Down's syndrome

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MicroRNAs in Human Diseases: From Autoimmune Diseases to Skin, Psychiatric and Neurodegenerative Diseases

  • Ha, Tai-You
    • IMMUNE NETWORK
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    • v.11 no.5
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    • pp.227-244
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    • 2011
  • MicroRNAs (miRNAs) are small noncoding RNA molecules that negatively regulate gene expression via degradation or translational repression of their target messenger RNAs (mRNAs). Recent studies have clearly demonstrated that miRNAs play critical roles in several biologic processes, including cell cycle, differentiation, cell development, cell growth, and apoptosis and that miRNAs are highly expressed in regulatory T (Treg) cells and a wide range of miRNAs are involved in the regulation of immunity and in the prevention of autoimmunity. It has been increasingly reported that miRNAs are associated with various human diseases like autoimmune disease, skin disease, neurological disease and psychiatric disease. Recently, the identification of miRNAs in skin has added a new dimension in the regulatory network and attracted significant interest in this novel layer of gene regulation. Although miRNA research in the field of dermatology is still relatively new, miRNAs have been the subject of much dermatological interest in skin morphogenesis and in regulating angiogenesis. In addition, miRNAs are moving rapidly center stage as key regulators of neuronal development and function in addition to important contributions to neurodegenerative disorder. Moreover, there is now compelling evidence that dysregulation of miRNA networks is implicated in the development and onset of human neruodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, Huntington's disease, Tourette's syndrome, Down syndrome, depression and schizophrenia. In this review, I briefly summarize the current studies about the roles of miRNAs in various autoimmune diseases, skin diseases, psychoneurological disorders and mental stress.

A study on the Theory of 'Ja-Yeol(刺熱)' in 32nd Chapter of 'So Moon(素問) Yellow Emperior's Nei-Ching(黃帝內經)' (황제내경(黃帝內經) 소문(素問) 자열론(刺熱論)에 대한 연구(硏究))

  • Kwon, Kun-Hyuck;Hong, Won-Sik
    • Journal of Korean Medical classics
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    • v.3
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    • pp.151-217
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    • 1989
  • In this thesis, I intend to study the translational and clinical interpretation through the theory of Ja-Yeol, and reached the following conclusions. 1. Liver-Heat-Disease due to absess of the function of expelling and lifting off, that Liver-Yang cannot lift up to upper-warmer, and stagnate liver. I think the symptoms of yellowish urine, abdominal pain, somnolence, fever belong to the syndrome of 'Gi-Bun(氣分)', and the symptoms of ravings with surprising, distending pain of hypochondrium, restless involuntary movement of the limbs, unable to lie flat belong to the syndrome of 'Hyeol-Bun(血分)'. 2. Heart-Heat-Disease due that 'Eum-Gi(陰氣)' in heart cannot lay down and reach to stagnate at heart, inner part. I think the symptoms of unjoy, acute cardiac pain, fidgetiness, well-nausea, headeche, reddish face, anhidrosis, etc. reveal with Heart-Heat-Disease. 3. Spleen-Beat-Disease due that 'Eum-Gi' in spleen cannot lay down and Yin of spleen changs heat. I think the symptoms of heaviness of head, cheek pain, fidgetiness, cyanosis, well-nausea, fever, not to let flex and reflex with back pain, diarrhea with abdominal pain, left and right cheek pain reveal with Spleen-Heat-Disease. I think symptoms of fever, diarrhea with abdominal pain belong to the syndrome of Yin-exhausion. 4. Lung-Heat-Disease due to that 'Eum-Gi' in lung cannot lay down. When 'Wi-Gi(衛氣)' stagnates at external part, I think, the symptoms of intolerance to wind and cold, yellowish fur, fever reveal. When Wi-Gi stagnates at lung, inner part, I think, the symptoms of dispnea with cough, pain on chest and back, unable to breath deeply, hydrosis and chilling reveal. 5. Kidney-Heat-Disease, in that the symptoms of back pain, leg aching, extreme thirst and frequently drink, fever, pain and stiffness of nape, cooling and aching leg, heat on plantar pedis, not trying to speak reveal is regarded external heat disease of 'Tai-Yang-Gyeong's(太陽經)' disease that asthenic fever open 'Tai-Yang-Gyeong' and lift by not enough of 'Yang-Gi(陽氣)' lifeing up from Kidney space, the water space of five elements.

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Consideration of the Exterior Syndrome Caused by External Pathogen (wind-cold-dampness) (외사(外邪)(풍한습사(風寒濕邪))에 의한 외감표증(外感表證)의 발병기전(發病機轉)에 대한 소고)

  • Lee, Sang-Ryong;Lee, Chang-Hyun;Lee, Kwang-Gye
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.26 no.4
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    • pp.409-417
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    • 2012
  • External pathogens such as wind, cold can easily invade the external parts of the body when host's external defense ability is not secure. Herein, we consider the underlying mechanisms against the external contraction at the body surface. During the early period after primary invasion, external defense mechanisms are gradually activated. The classic clinical manifestations are aversion to cold, fever, headache, generalized pain, and nasal congestion. This condition is called by invasion of external pathogen into the body surface. As the disease progress, lung qi is stagnated and thereby up-outward and downward movement action of lung become disturbed. Therefore, when doctor administrate formula to treat the exterior syndrome, doctor must keep in mind not only materia medica, but also underlying mechanisms through which many clinical symptoms appear.

Genetic radiation risks: a neglected topic in the low dose debate

  • Schmitz-Feuerhake, Inge;Busby, Christopher;Pflugbeil, Sebastian
    • Environmental Analysis Health and Toxicology
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    • v.31
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    • pp.1.1-1.13
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    • 2016
  • Objectives To investigate the accuracy and scientific validity of the current very low risk factor for hereditary diseases in humans following exposures to ionizing radiation adopted by the United Nations Scientific Committee on the Effects of Atomic Radiation and the International Commission on Radiological Protection. The value is based on experiments on mice due to reportedly absent effects in the Japanese atomic bomb (A-bomb) survivors. Methods To review the published evidence for heritable effects after ionising radiation exposures particularly, but not restricted to, populations exposed to contamination from the Chernobyl accident and from atmospheric nuclear test fallout. To make a compilation of findings about early deaths, congenital malformations, Down's syndrome, cancer and other genetic effects observed in humans after the exposure of the parents. To also examine more closely the evidence from the Japanese A-bomb epidemiology and discuss its scientific validity. Results Nearly all types of hereditary defects were found at doses as low as one to 10 mSv. We discuss the clash between the current risk model and these observations on the basis of biological mechanism and assumptions about linear relationships between dose and effect in neonatal and foetal epidemiology. The evidence supports a dose response relationship which is non-linear and is either biphasic or supralinear (hogs-back) and largely either saturates or falls above 10 mSv. Conclusions We conclude that the current risk model for heritable effects of radiation is unsafe. The dose response relationship is non-linear with the greatest effects at the lowest doses. Using Chernobyl data we derive an excess relative risk for all malformations of 1.0 per 10 mSv cumulative dose. The safety of the Japanese A-bomb epidemiology is argued to be both scientifically and philosophically questionable owing to errors in the choice of control groups, omission of internal exposure effects and assumptions about linear dose response.

Clinical Features of the Midgut Volvulus in Children (소아 중장 염전의 임상 양상)

  • Kim, Hyun-Ah;Choi, Kum-Ja
    • Advances in pediatric surgery
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    • v.10 no.2
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    • pp.112-116
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    • 2004
  • Midgut volvulus secondary to intestinal malrotation usually presents within the first month of life. Diagnostic delay may result in midgut infarction and mortality. In this retrospective study, we review seventeen cases of midgut volvulus to assess the importance of early recognition for midgut volvulus in pediatric patients of any age.. These patients were diagnosed as having a midgut volvulus by operation at Ewha Womans University Hospital. Eleven patients (64.7 %) were less than 1 month of age, and fifteen were boys (88.2 %). The mean gestational age was 38.3 weeks and the birth weight was 3.1 kg. Eight patients (47.1 %) had one or more combined anomalies such as heart malformation, brain ischemia, Down's syndrome or duodenal atresia. Vomiting was the most common symptom. Only thirteen patients underwent preoperative diagnostic procedures; 13 abdominal sonography demonstrated the whirlpool sign in 8 patients, upper gastrointestinal tract roentgenography showed a cork-screw pattern in 7 patients, and barium enema or small bowel series demonstrated positive findings in 7 patients. A Ladd's procedure was was formed on all patients.. There was no mortality or severe morbidity such as short bowel syndrome. Midgut volvulus should be included in the differential diagnosis in any infant or child who presents with the symptoms of acute abdomen, especially with vomiting.

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SMITH-MAGENS SYNDROME (SMS) : A CASE REPORT (Smith-Magenis Syndrome (SMS) 환아의 증례 보고)

  • Kim, Eun-Young;Lee, Keung-Ho;Choi, Yeong-Chul
    • Journal of the korean academy of Pediatric Dentistry
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    • v.30 no.3
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    • pp.341-347
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    • 2003
  • Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly and mental retardation syndrome caused by an interstitial deletion of chromosome 17 p11.2. Physical features include short stature, characteristic facial appearance: flattened mid-face, down-turned mouth, prominent and often rosy cheeks; prominent jaw in older children and adults, chronic ear infections, hearing impairment, eye problems, including: strabismus (an eye which turns in or out) and myopia (nearsightedness), hoarse voice, short fingers and toes, heart defects or murmurs, problems related to the urinary system, scoliosis (curvature of the spine), an unusual gait (walking pattern), and decreased sensitivity to pain. Behavioral and developmental characteristics include speech delay and articulation problems, developmental delay, learning disability, mental retardation, hyperactivity, self-injury, including: head banging; hand biting; picking at skin, sores and nails; pulling off finger- and toenails; inserting foreign objects into ears, nose, or other body orifices, explosive outbursts, prolonged tantrums, destructive and aggressive behavior, excitability, arm hugging or hand squeezing when excited. This report is the case of a Korean 3-year-3-month old male with Smith-Magenis syndrome referred from local clinic for the treatment of dental caries. The patient was treated by physical restraint after prophylatic administration of antibiotic(Amoxacillin 50mg/kg).

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PERIODONTOPATHIC BACTERIA IN DOWN'S SYNDROME (다운증후군 환자의 치주질환 원인균의 출현율)

  • Kim, Seon-Mi;Yang, Kyu-Ho;Choi, Nam-Ki;Oh, Jong-Suk;Kang, Mi-Sun
    • Journal of the korean academy of Pediatric Dentistry
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    • v.32 no.4
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    • pp.717-725
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    • 2005
  • It is widely known that individuals with Down's syndrome(DS) often develop early onset severe periodontal diseases. In this study, We examined the prevalence of periodontopathic bacteria in DS patients to compare controls with mental disabilities(MD) The subjects were 27 DS patients (7 to 19 years old) and 27 age-matched controls with MD. Plaque index and gingival index were measured. And 5 pathogens, Actinobacillus actinomycetemcomitans, Porphyromonas gingivalis, Tannerella forsythia, Treponema denticola, Fusobacterium nucleatum, were surveyed in subgingival plaque samples using a polymerase chain reaction. No significant difference in plaque index and gingival index were observed between the DS and control group. The prevalence in DS was 96.3% for F. nucleatum, 74.1% for T. forsythia, 63.0% for P. gingivalis, 55.6% for A. actinomycetemcomitans. 40.7% for T. denticola. No significant differences were observed in the prevalence of periodontopathic bacterias between the DS and control. Prevalence of P.g(16.7%) at age $7{\sim}10$ is lower than other age group in DS, but its prevalence increased with age. Prevalence of A.a(83.3%) is peak at age $7{\sim}10$ in DS. These results suggest that various periodontopathic pathogens can colo nize in the very early childhood of DS and MD patients. But no significant difference was observed in the prevalence of periodontopathic bacterias between the DS and control.

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Building a Emergency Response System for the Infectious Diseases Crisis Management (감염병 위기관리를 위한 긴급대응체계 구축)

  • Byun, Sung-Soo;Shin, Woo-Ri;Cho, Seong
    • The Journal of the Korea Contents Association
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    • v.18 no.7
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    • pp.484-494
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    • 2018
  • Middle East Respiratory Syndrome (MERS), which occurred in the Middle East in 2015, is the most acute respiratory infectious disease in Korea. The limitations of the government's ability to respond to the spread of MERS and the inadequate communication of the government to the public have reduced the public's confidence in the government's infectious disease management policy. And it became an opportunity to raise awareness that infectious diseases could easily break down the national anti-virus system. Therefore, this study investigated the emergency response system of the infectious disease in the United States and sought to improve the infection control system in Korea. In order to achieve the purpose of the study, we analyzed the government's response to the MERS in 2015, analyzed the organization structure and role of the US CDC, and IMS.