Purpose : Kabuki syndrome is a multiple congenital malformation syndrome with mental retardation. It was named after its characteristic appearance, a face resembling that of an actor in a Kabuki play. To date, six Korean cases of Kabuki syndrome have ever been reported. Here, we present the phenotypic and genetic characteristics of six patients with Kabuki syndrome. Materials and Methods : Between 2003 and 2009, six Korean girls have been diagnosed and followed up as Kabuki syndrome at Center for Genetic Diseases of Ajou University Hospital. Their clinical and laboratory data were collected and analyzed by the retrospective review of medical records. Results : All six patients showed the characteristic facial dysmorphism and developmental delay. Persistent fingertip pads were also found in all patients. Most patients showed postnatal growth retardation (83.3%) and hypotonia (83.3%). Opthalmologic problems were common, particularly for strabismus (83.3%). Congenital heart defects were present in three patients (50%). Skeletal abnormalities including 5th finger shortening (83.3%), clinodactyly (50%), joint hypermobility (50%) and hip dislocation (16.7%) were also observed. There was no patient who had positive family history for Kabuki syndrome. Cytogenetic and molecular cytogenetic analyses including karyotyping and array CGH could not reveal any underlying genetic cause of Kabuki syndrome. Conclusion : Korean patients with Kabuki syndrome showed a broad spectrum of clinical features affecting multiple organ systems. Although clinical manifestations of Kabuki syndrome have been well established, our results failed to detect recurrent chromosome aberrations which could cause Kabuki syndrome. Its natural history and genetic background remains to be further studied for providing appropriate management and genetic counseling.
Park, Dong-Heon;Jang, Hyun-Yong;Park, Choon-Keun;Cheong, Hee-Tae;Kim, Choung-Ik;Yang, Boo-Keun
Development and Reproduction
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v.8
no.2
/
pp.77-84
/
2004
The purpose of this experiment was to determine the effects of di(2-ethylhexyl) phthalate(DEHP) on reproductive characteristic, blood hematological and chemical values in mice. The male mice were intraperitoneally injected DEHP in negative control(no treatment), positive control(corn oil, 3ml/kg B.W), 0.5, 1.0 and 10.0mg DEHP/kg B.W and the female mice were injected DEHP in control(corn oil, 3ml/kg B.W), 0.5, 1.0 and 10.0mg DEHP/kg B.W with 5 times for 15 days on 3 days interval. The administration of DEHP in male mice were not affect on body weight, epididymis, vesicular gland and coagulating gland weight. The testis weight were slightly higher in DEHP treatment groups than in control. The semen characteristics(sperm concentration, viability, motility and abnormality) of male mice were not difference in all experimental groups. The RBC, Hb, HT, MCV, MCH, MCHC< PLT, albumin, BUN and total protein of blood hematological and chemical values were not affect the administration of DEHP in mice. The WBC values in 10.0mg DEHP group was slightly difference in all experimental group(P>0.05). The histological evaluation of testis, ovary and affevt the reproductive characteristic, blood hematological and chemical values.
Park, Dong-Heon;Jang, Hyun-Yong;Park, Choon-Keun;Cheong, Hee-Tae;Kim, Choung-Ik;Yang, Boo-Keun
Development and Reproduction
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v.8
no.2
/
pp.91-97
/
2004
The objective of this study was to assess that the effects of DEHP administration on reproductive characteristics and blood hematological and chemical values in pups born after DEHP administration in pregnant mice. DEHP was administrated to pregnant mice by intraperitoneally injection with 0, 0.5, 1.0 and 10.0mg/kg B.W, 5 times at 3 days interval from Day 1 to Day 16 in the gestation period. The body weight and reproductive organ weight(testis, epididymis and coagulating gland) in male pups on 45 day after birth was not affected in all experimental groups, but vesicular gland in DEHP groups was significantly lower than that of control group(P<0.05). The semen characteristics of male pups were not affected in DEHP treatment groups. The WBC, HB, HT, MCH and albumin values in male pups were not affected in all experimental groups, but RBC MCV, MCHC, PLT and total protein values were significantly different among the experimental groups(P<0.05). In female pups, the effects of DEHP administration were not affected the body and uterus weight, but the left ovary in 10.0mg DEHP group was significantly heavier than in control and 0.5mg DEHP group(P<0.05). The WBC, MCV, MCH, MCHC, PLT, albumin, BUN and total protein values in female were not different in all experimental groups. The RBC, HB and HT values were significantly different among the experimental gruop(P<0.05). The historical evaluation of testis in male pups that were grown to 45 days after birth was not different in all experimental groups. The ovary in female pups had many corpus luteum in 10.0mg DEHP group. The endometriosisi of uterus was significantly decreased in DEHP group. There results suggest that low concentration of DEHP administration in pup born after DEHP administration in pregnant mice was not affered on reproductive characteristic, but was affected on blood hematological and chemical values.
In 2012, the Korean government has hosted the AFoCO Secretariat in Seoul. The AFoCO Secretariat is established by Agreement between the Governments of the Member States of the Association of Southeast Asian Nations and the Republic of Korea on Forest Cooperation (AFoCO Agreement) which is initiated by the Korea. The Korea government, however, does not have any laws and regulations to regulate the matter of legal status and legal personality of nationally hosted international organizations including the AFoCO Secretariat. Therefore, the legal status and legal personality of AFoCO Secretariat in international and domestic arena are still not clear. To articulate such issues and to propose some answers, this article analyzes the international and domestic legal theory and practice about the status and legal personality of public international organizations. As a result, it is common in the literature to delimit international organizations by some standards. One characteristic is that international organizations are usually created between states. A second characteristic is that they are established by means of a treaty. And as a third characteristic, international organizations must possess at least one organ which has a will distinct from the will of its members. According to those criteria, the AFoCO Secretariat can be categorized as a public international organization. It means that the AFoCO enjoys certain privileges and immunities as a public international organization and must confer legal capacity in Korea even there is no domestic laws and regulations conferred the status and legal personality to it. It, however, will be a better way to confer domestic legal personality on the AFoCO Secretariat through a domestic act like an "Act on the Assistance of International Organization Attraction". This act will stipulate the legal status of international organization in Korea including the privileges and immunities as well as the matter of assistance of hosting international organizations.
The following results were obtained through the experiments and study of fertility for silkworm eggs in vagina, oviduct, and ovarial base. The sample eggs were collected after leaving silkworm moth for one week from the date of treatment was given to oviporm orifice of the silkworm moth by heated needle in order to discontinue laying eggs. Those sample silkworm moths were divided into two groups. The first group was under the condition of immediately after the couplation and the second group was under the condition of after the laying eggs in some extend, and both of them were completed couplation. The sample eggs were screened in order to confirm the degree of color which normally be observed as very characteristic during hibernating. 1. About 5% of silkworm out of the total sample were identified as having 1-2 eggs. (See table 1). But, the charasteristic colour of hibernating egg was not observed. The colour was not much different as that of eggs in ovarian duct. 2. Immediately after the couplation, the eggs were not found in vagina under the condition of immediately after the couplation. 3. About 10% of the sample under the condition of after laying eggs in some extend were found having eggs in vagina or oviduct. 4. About 2% of the sample silkworm moth under the condition of immediately after the couplation were found having I fertilized egg in oviduct. 5. No fertilized egg was found in ovarian tube. It seemed that sperm did not enter ovarian tube. 6. Almost the entire eggs were found in ovarian tube under the condition of immediately after the couplation. But, eggs under the condition of after laying eggs in some extend were found around oviduct and vagina due to the continuous movement of silkworm eggs towards oviporus orifice. 7. Sperm is mainly found around seminal receptacle and vagina, and sperm goes into micropyle together with silkworm eggs which were moving towards oviduct.
Objectives : It is known that the five Su points are very useful clinically. The following study was undertaken in order to find out the general characteristic and the origin of the five Su points. Methods: We investigated the relation of symptoms that are treated by five Su points and Shi-Dong Suo-Sheng-Bing(是動 所生病). The main reference book was Zhen Jiu Jia Yi jing(鍼灸甲乙經) and the author took Liver Meridian of Foot Gworeum(足厥陰肝經) as an example. Results : 1. Five Su point of Liver Meridian of Foot Gworeum(足厥陰肝經) treats Shi-Dong-Bing(是動病) of Liver Meridian of Foot Gworeum. It is peculiarity of Five Su point of Liver Meridian of Foot Gworeum, differed from the others acupoints. Symptoms of Shi-Dang-Bing appears with the abnormal pulsation of Merdian Gi(脈氣), and the special feature of Shi-Dang-Bing is the symptoms are consisted of disorders of whole body, trobles of an internal organ, and psychosomatic disorders. 2. In , it is described the part of pulse feeling for Shi-Dong-Bing(是動病) of Liver Meridian of Foot Gworeum(足厥陰肝經) as ‘A region that is 2 Chon(寸) from the basic digital joint of the first toe’. This region is agree with the acupoint of Liver Meridian of Foot Gworeum in , . And Haeng-gan(行間) Tae-chung(太衝), members of five Su-points of Liver Meridian of Foot Gworeum is situated the same region. So we suppose that the part of pulse feeling for Shi-Dong-Bing of Liver Meridian of Foot Gworeum is transformed into Haeng-gan(行間) Tae-chung(太衝), among the five Su points.
Myofascial pain syndrome is one of the pain syndrome resulted from myofascia which covered muscles and clinically characteristic feature by sensitive trigger point in skeletal muscles and referred pain reactivated by stimulating each trigger point. The origin of headache are local lesion such as head, chest, abdominal organ, systemic lesion with fever or in toxic state. the other factors are consciousness, personality, anxiety, depression, which cause muscle strain in physiological environment. The Oriental Medical therapy for headache has herb medication and acupuncture. especially acupuncture therapy has not only classical systemic acupuncture(體鍼) but also neo-acupuncture(新鍼) such as commonly using auricular acupuncture(耳鍼) and manual acupuncture (手鍼), recently trigger point acupuncture is used. The author analyzed 27 cases of patient with headache treated by trigger point acupuncture therapy in Dong-yu Oriental Medical Hospital from March 1st 1997 to February 28th 1998. The following results were obtained. 1. The sex ratio of the female was 59.26%(16 cases) and male was 40.74%(11 cases), the ratio of high school student was 62.96%(17cases) as first. 2. The headache duration ratio of 2-3 years was 37.04%(10 cases) as first, 1-2 years was 25.93%(7 cases) as second. 3. The portion ratio of whole headache was 33.33%(9 cases) as first, lateral headache was 29.63%(8 cases) as second 4. The combined symptoms ratio of anorexia was 40.74%(11 cases) as first, fatigue was 33.33%(9 cases) as second, neck stiffness and dizziness was each 25.93%(7 cases) as third. 5. The therapeutic duration ratio of below 1 week was 29.63%(8 cases) as first, 2-3 weeks was 22.22%(6 cases) as second, 1-2 weeks and 3-4 weeks was each 18.52%(5 cases) as third. 6. The ratio of family history was 11 cases(40.74%). mother with headache was 6 cases, father was 3 cases, and brothers & sisters was 2 cases. 7. The herb medication ratio of Chungsanggyuntongtang(淸上?痛湯) was 37.04%(10 cases), Kamiondamtang(加味溫膽湯) was 22.22%(6 cases), Hyangsapyunguisan(香砂平胃散) was 18.25%(5 cases) etc. 8. The remedial effect ratio of good was 25.93%(7 cases), fair was 48.15%(13 cases), not improved was 7.41%(2 cases), side effect was 3.70%(1 cases), and unknown was 14.81%(4 cases).
Medieval European practical art and style of costume is studied through referring to the literatures. The type of clothing that was seen on tapestries arts and crafts paintings and wall paintings and appeared in the architecture such as church. There were symbolic aspects of color motifs at this period and some restraints for clothing according to the social class, It was a period that draped garments due to the War of Crusades is appeared. Be-cause the medieval taste and decorative character is not only 'formative art' but also the taste beyoud 'mode' and atomsphere of that times it could be seen the strong reflec-tion of customs in the clothing of that times which is shown in works of art. 1) The purpose of Christian art which was found in mosaics stained glasses wall pain-tings and statues of architecture was not just the revival of natural phenomena but visuali-zation of sacred and invisible things. It was valuable to understandin of the spiritual through the sense organ It was a monumental art that was combined with decorative func-tion and role of the Bible. It revealed what was about the religious spiritual miracle, 2) In the medieval European painting characteristic and beautiful creativity was the basis of an argument. Both "Worship of East-ern" that is painted ion a parchment and "Cor-onation of Charles VI" were described decor-ation motifs on the edge of buildings geo-metric patterns and others with outstanding skill. there were precise technologic skill of architect and glassmen and lots of patience of craftsmen. " The Labour of the Months" and the scene of"A Trial at the Court" is also de-scribed elaborately. 3) Tapestry was developed in France Ger-many Swiss at the 14th century. Religionary and historical themes unicorn lady bird flowering plants and others were major motifs. It was very important as decorative wall coverings and as practical door arch and bed hangings. It was made through patient hard work with simple technique and it was con-sidered as an art for practical use. Tapestry was what everyone wish to have. It is reckoned for the item of the best gift. The royalty and nobility ordered and used custom-made tapestries. Sometimes the subject of motifs consisted of series which were deeply related to living 4) Decorative arts and crafts was the art that used materials such as precious metals jewels and others and that accorded with the luxurious and gorgeous taste of the royalty and nobility. Christian considered splendid and beautiful color of light as a symbol of glory. They used also for church appliances, There were metal crafts wood crafts textile crafts and others, As was stated above the costume appeared on the arts and crafts for living revealed the process of changes saw how the politic econ-omic and social organizations were developed.and social organizations were developed.
Mattes, Malcolm D.;Lee, Jennifer C.;Elnaiem, Sara;Guirguis, Adel;Ikoro, N.C.;Ashamalla, Hani
Radiation Oncology Journal
/
v.32
no.1
/
pp.23-30
/
2014
Purpose: The goal of this study is to determine whether the magnitude of overlap between planning target volume (PTV) and rectum ($Rectum_{overlap}$) or PTV and bladder ($Bladder_{overlap}$) in prostate cancer volumetric-modulated arc therapy (VMAT) is predictive of the dose-volume relationships achieved after optimization, and to identify predictive equations and cutoff values using these overlap volumes beyond which the Quantitative Analyses of Normal Tissue Effects in the Clinic (QUANTEC) dose-volume constraints are unlikely to be met. Materials and Methods: Fifty-seven patients with prostate cancer underwent VMAT planning using identical optimization conditions and normalization. The PTV (for the 50.4 Gy primary plan and 30.6 Gy boost plan) included 5 to 10 mm margins around the prostate and seminal vesicles. Pearson correlations, linear regression analyses, and receiver operating characteristic (ROC) curves were used to correlate the percentage overlap with dose-volume parameters. Results: The percentage $Rectum_{overlap}$ and $Bladder_{overlap}$ correlated with sparing of that organ but minimally impacted other dose-volume parameters, predicted the primary plan rectum $V_{45}$ and bladder $V_{50}$ with $R^2$ = 0.78 and $R^2$ = 0.83, respectively, and predicted the boost plan rectum $V_{30}$ and bladder $V_{30}$ with $R^2$ = 0.53 and $R^2$ = 0.81, respectively. The optimal cutoff value of boost $Rectum_{overlap}$ to predict rectum $V_{75}$ >15% was 3.5% (sensitivity 100%, specificity 94%, p < 0.01), and the optimal cutoff value of boost $Bladder_{overlap}$ to predict bladder $V_{80}$ >10% was 5.0% (sensitivity 83%, specificity 100%, p < 0.01). Conclusion: The degree of overlap between PTV and bladder or rectum can be used to accurately guide physicians on the use of interventions to limit the extent of the overlap region prior to optimization.
Journal of The Korean Society of Inherited Metabolic disease
/
v.15
no.2
/
pp.87-92
/
2015
Mucopolysaccharidosis (MPS) is an inherited disease entity associated with lysosomal enzyme deficiencies. MPS type 2, also known as Hunter syndrome, has a characteristic morphology primarily involving x-l inked recessive defects and iduronate-2-sulfatase gene mutation. The purpose of this case report is to provide important clues to help pediatricians identify Hunter syndrome patients earlier (i.e., before the disease progresses). A 30-month-old boy showed developmental delay and decreased speech ability. Physical examinations revealed a flat nose and extensive Mongolian spots. Brain magnetic resonance images (MRIs) showed bilateral multiple patchy T2 hyperintense lesions in the periventricular and deep white matter, several cyst-like lesions in the body of the corpus callosum, and diffuse brain atrophy, which were in keeping with the diagnosis. Based on these findings, the patient was suspected of having MPS. In the laboratory findings, although the genetic analysis of IDS (Iduronate-2-sulfatase) did not show any pathogenic variant, the enzymatic activity of IDS was not detected. We could confirm the diagnosis of MPS, because other sulfatases, such as ${\alpha}$-L-iduronidase, were detected in the normal range. Early enzymatic replacement therapy is essential and has a relatively good prognosis. Therefore, early diagnosis should be made before organ damage becomes irreversible, and brain MRIs can provide additional diagnostic clues to help distinguish the disorder.
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