• Title/Summary/Keyword: DOWN SYNDROME

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Chronic Levator Ani Syndrome Treated with Traditional Korean Medicine: A Case Report (만성적인 항문거근증후군 치료 사례)

  • Chang-Gue Son
    • The Journal of Internal Korean Medicine
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    • v.45 no.1
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    • pp.111-118
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    • 2024
  • This case report highlights the efficacy of traditional Korean medicine in treating chronic levator ani syndrome. A 47-year-old male suffered from chronic anorectal pain for 14 years. Over the last 5 months, the severity and frequency of the pain increased, and he was unresponsive to Western medicine and acupuncture outside Korea. The patient reported moderate anorectal pain from early morning until midday, affecting daily efficiency and concentration. The pain was triggered by defecation and alleviated by lying down. He was diagnosed with levator ani syndrome related to "cold symptoms of the liver and kidney - Yin", for which modified Nangan-jeon was prescribed. Indirect moxibustion (CV4, Ki1), Aconitum ciliare Decaisne pharmacopuncture (GV1, BL33), and acupuncture (HT7, ST36, SP6, LR3, LI4) were also administered weekly. After 8 weeks, the anorectal pain decreased by 2 points on a numeric rating scale, leading to patient satisfaction and return to his home country.

Effects of Angelicae Gigantis Radix on Gene Expression of Ovarian Tissue in Polycystic Ovary Syndrome Rats (당귀(當歸)가 다낭성난소증후군이 유발된 흰쥐 난소조직의 유전자 발현에 미치는 영향)

  • Ryu, Ki-Jun;Cho, Sung-Hee
    • The Journal of Korean Obstetrics and Gynecology
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    • v.24 no.3
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    • pp.28-47
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    • 2011
  • Objectives: This study was performed to investigate the effects of Angelicae gigantis Radix (AGR) which is one of the most useful herbal-drug to treat patients with Polycystic Ovary Syndrome (PCOS) in Oriental medicine on gene expression of ovary tissue. Methods: The effects of AGR on gene expression of ovary tissue resected from PCOS induced rats using single injection of $\ss$-Estradiol 17-valerate (EV) was measured using microarray technique, and the functional analysis on these genes was conducted. Results: Total 2,812 genes were up-regulated or down-regulated, 1,421 genes were up-regulated, 1,391 genes were down-regulated by induction of PCOS. Up-regulated genes were mainly involved in biological function such as cell signalling pathways and inflammatory response. Expression levels of 1,442 genes were restored to those of naive animals by administration of AGR. 558 genes were restored to those of naive animals, which were lowered by induction of PCOS. 884 genes were lowered to naive levels, which were elevated by induction of PCOS. The functions of restored genes were partially involved in the restoration of expression levels, which were changed by induction of PCOS. Especially, up-regulated gene by induction of PCOS were mainly involved in these changes. These results mean restorative effects of AGR on damaged functions by induction of PCOS. The network of total protein interactions was measured using cytoscape program, and some key molecules, such as IRS2, MCM10, ORC2L related in up-regulated genes, CTBP2, CD44, RHOA, related in down-regulated genes that can be used for elucidation of therapeutical mechanism of medicine in future were identified. Conclusion: Restored genes by AGR were thought to have common pathways related in regulation of gene expressions. Especially, genes in restored expression levels by AGR, which were up-regulated by induction of PCOS, were regulated by 9 of common transcription factors, genes in restored expression levels by AGR, which were down-regulated by induction of PCOS, were involved in 25 of common transcription factors.

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.

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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Assessment of Chromosomal Analyses of 1,180 Cases Suspected of Chromosomal Aberrations (염색체이상을 의심한 1,180례의 염색체 분석 결과 검토)

  • Jeong, Hyeon Kyoung;Ahn, Eun Young;Rim, Sung Soo;Kim, Eun Young;Kim, Kyoung Sim;Kim, Yong Wook;Kim, Ki Bok
    • Clinical and Experimental Pediatrics
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    • v.45 no.3
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    • pp.311-319
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    • 2002
  • Purpose : We have performed this study to obtain reference data for the distribution of chromosomal aberrations in Korea. Methods : We analyzed 1,180 chromosomal study cases from Kwang ju Christian Hospital during the past 25 years. 756 cases suspected of characteristic chromosomal aberration syndromes and 424 cases with hermaphroditism, mild sexual abnormalities, multiple anomalies, or mental & growth retardation were included. Results : The male to female ratio of autosomal aberration syndromes was 1.2 : 1. 78.6% of autosomal aberrations were diagnosed under 1 year of age, whereas 89.8% of sex chromosomal aberrations were diagnosed over 12 years of age. Among 1,180 cases, 612 ones had chromosomal aberrations(51.9%) : 590 of 756 cases suspected of chromosomal aberration syndromes had aberrations( 78.0%), whereas 22 of 424 showing the above other features had aberrations(5.2%). Autosomal aberrations appeared in 514 cases(83.8%) and sex chromosomal aberrations appeared in 98 cases(16.2%). The most frequently observed abberation in autosomal aberrations was Down syndrome, followed by E, D, B, A and C group aberrations. The most common abberation in sex chromosomal aberrations was Turner syndrome, followed by Klinefelter syndrome and Fragile X syndrome. Conclusion : It is of vital importance that patients suspected of chromosomal aberrations undergo chromosomal analysis. Further advanced chromosomal staining and molecular genetic methods will raise the detection rate of chromosomal aberrations.

Effects of Hip Internal Rotation on Knee Extensor and Hip Abductor Electromyographic Activity During Stair Up and Down (계단 오르고 내리기시 엉덩관절 내회전이 무릎관절 폄근과 엉덩관절 벌림근 근활성도에 미치는 영향)

  • Oh, Jae-Seap;Kwan, Oh-Yun;Yi, Chung-Hwi;Jean, Hye-Sean
    • Physical Therapy Korea
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    • v.15 no.2
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    • pp.54-63
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    • 2008
  • The purpose of this study was to examine the effect of the hip internal rotation on knee extensor and hip abductor electromyographic (EMG) activity during stair up and stair down mobility. Eighteen healthy subjects were recruited. All subjects performed stair up and down movements on a step of 30cm height while maintaining the hip in neutral (condition 1) and hip in internal rotation (condition 2). Surface EMG activity was recorded from five muscles (gluteus maximus, vastus lateralis (VL), vastus medialis oblique (VMO), posterior gluteus medius (Gmed), and tensor fascia latae (TFU)) and hip internal rotation angle was measured using a three dimensional motion analysis system The time period for stair up and down was normalized using the MatLab 6.5 program, and EMG activity was normalized to the value of maximal voluntary isometric contraction (%MVIC). The EMG activities according to the hip rotation (neutral or internal rotation) during the entire time period of stair up and down in each phase were compared using a paired t-test. During the entire period of stair up, the EMG activities of VL and TFL in condition 2 were significantly greater than in condition 1 (p<.05). During the entire period of stair down, the EMG activities of VL and TFL in condition 2 were significantly greater than in condition 1 (p<.05). However, the EMG activities of the other muscles were not significantly different between the conditions (p>.05). These results suggest that the stair up and down maintaining hip internal rotation was could be a contributing factor on patellar lateral tracking.

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A Documentary Study on Herb, Dmgs used for Vitiligo -With an emphasis on classifying kinds, excess and weakness syndrome, the changes of medical methods and factors by each epoch mentioned in the relative documentary records (백반증(白斑症) 사용약물(使用藥物)에 대한 문헌적(文獻的) 고찰(考察) -관련문헌(關聯文獻)에 나타난 백반증(白斑症)의 상용약물(常用藥物) 종류(種類), 허실(虛實), 시대(時代), 원인별(原因別) 분류(分類)를 중심(中心)으로-)

  • Lee, Sun-Dong
    • The Journal of Korean Medicine
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    • v.16 no.2 s.30
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    • pp.44-61
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    • 1995
  • Arranging 63 kinds of separate volumes and papers published on Oriental medicine, I could get the result as follows. 1. The herbs for internal application used commonly in vitiligo are 155 kinds totally. The herbs for external application are 67 kinds. The herbs for external and internal both application examined into 23 sorts. 2. Herbs for weakness syndrome in vitiligo are 49 kinds. Another type, excess syndrome is 105 sorts, the'latter is roughly twice as many as the former. 3. It is as follows that the results of study in relations to kinds, factors, and medical treatments of herbs about vitiligo in and out of the country with the division of former times to 1900, 1901 to 1980, 1981 to 1990, and 1991 to the latest day. In comparative study of inner and outer of thc country about factors and medical treatments of vitiligo in chronicle classification, its factors in the internal documents are classified by outside factors. Although there arc the differences of factors by each epoch, however, the factors of vitiligo according to external documents are blood stasis(血熱), deficiency of um of the liver and kidneys(肝腎陰虛), deficiency of blood(血虛), excess of exhaustion(勞倦過多) etc. Moreover, the medical treatment is more diverse and the differences by each epoch as to the medical treatment is also put down more saliantiy than in internal documents. 4. In comparison with herbs in experimental and no experimental documents, herbs applied for weakness syndromes in experimental method are 40 kinds totally. The herbs in no experimental methods are 35 kinds. The herbs used by experimental method are 65 kinds. The common herbs for excess syndrome by no experimental method are 78 kinds. We can see comparable difference from kinds of herbs used by experimental method. In brief, there are the differences classified by each epoch in Oriental medicine for treatment. Especially one of the most important feature, the frequency in use of weakness syndrome herbs has increased more than that of excess syndrome herbs. In external documents (china) and experimental study, generally the differences of common herbs and factors have disappeared through many experimentsitudy. The classification of its factors have been fractionalized clinically. Besides, in Western medicine and Orienal medicine, vitiligo tends to be prescribed not to simple skin disease but a mental and physical disease, a whole body and an internal disease.

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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.

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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Evaluating the results of the Momguard noninvasive prenatal test

  • Hu, Hae-Jin;Kwon, Young-Jun;Oh, Mijin;Kim, Jihun;Cho, Dae-Yeon;Seo, Dong-Hee
    • Journal of Genetic Medicine
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    • v.12 no.2
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    • pp.96-99
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    • 2015
  • Purpose: To evaluate the performance of the Momguard noninvasive prenatal test by tracing the 'screen positive' results based on preliminary samples from Korean cohorts. Materials and Methods: This preliminary study is based on data collected by the LabGenomics Clinical Laboratory (Seongnam, Korea) with informed consent. Only pregnant women who underwent both the Momguard test and karyotyping were included in this study. Momguard test results were compared with those of the karyotyping analysis. Results: Among the 38 cases with 'screen positive' results by Momguard, 30 cases also had karyotyping results available. In three trisomy (T) 18 and three T13 cases, the Momguard results were concordant with the karyotyping results. For the T21 cases, except for one case belonging to the mid-risk zone, Momguard results from 23 out of 24 cases matched the karyotyping results. Conclusion: Momguard is a highly reliable screening tool for detecting T13, T18, and T21 cases in independent Korean cohort samples.