Cohen-Gibson syndrome (CGS) was first reported by Cohen et al., who identified the mutation of the gene encoding the embryonic ectoderm development (EED) in a patient with phenotypes similar to Weaver syndrome. CGS manifests as an overgrowth and intellectual disability, in addition to the characteristic facial features and organ anomalies. CGS has been reported in only 11 unrelated patients since 2015. A girl aged 6 years and 3 months presented with seizures. She had macrosomia, a dysmorphic face, and intellectual disability. Her mother and younger sister and brother also had macrosomia, intellectual disability, and similar facial features; additionally, her mother experienced seizures and had an arachnoid cyst, while her siblings had valvar pulmonary stenosis. Whole-exome sequencing for the proband revealed a mutation of EED (c.581A>G, p.Asn194Ser), which was also verified in the mother and both siblings using Sanger sequencing. This is the first report of familial CGS.
The essay examines two contemporary American plays that portray adult Korean American adoptees' return to South Korea: How to Be a Korean Woman (2012) by Sunmee Chomet and Middle Brother (2014) by Eric Sharp. While the existing scholarship on transnational adoption has discussed homecoming as a predominantly female experience of birth mothers and daughters, Chomet and Sharp suggest the differing ways in which the adoptee subjectivity is re-imagined in particularly gendered ways after homecoming. In these plays, adult adoptees' repeated, mundane bodily performances of Korean cultural norms illustrate how notions of femininity and masculinity are inscribed onto the body of adoptee individuals under the patriarchal system. Such performative construction of Korean-ness departs from the earlier theatrical representations of young, adolescent adoptees' homecoming that served as a symbolic rite of passage, a necessary process through which they would gain cultural hybridity and mature into cosmopolitan American-ness.
Sensitivities of PLBs of four Phalaenopsis cultivars, P. 'Taisuco Windian', P. 'Nancy Amour', P. 'Pink Twilight' and P. 'Taipei Gold' to kanamycin, spectinomycin and hygromycin at different concentrations (0, 25, 50, 100, 200, and $400mg{\cdot}L^{-1}$) were examined. Hygromycin was favorable for selecting the transformants in the genetic transformation of Phalaenopsis as PLBs of four cultivars were all dead at even $25mg{\cdot}L^{-1}$ hygromycin. Responses of PLBs of P. 'Maki Watanabe' and P. 'Brother Lawrence' to DL-phosphinothricin (PPT) were determined at different concentrations (0, 0.1. 0.25, 0.5, 1.0, 2.0, 2.5, and $5.0mg{\cdot}L^{-1}$) and $0.5mg{\cdot}L^{-1}$ PPT was thought to be suitable for selecting the transformants of Phalaenopsis. The optimum conditions for Agrobacterium cocultivation with Phalaenopsis PLBs were examined using a two-step cocultivation method in Dtps. 'City Girl' and A. tumefaciens LBA4404. In the first infection period in a 1 : 10 suspension of Agrobacterium to a VW medium, 1 hr infection showed the highest PLB survival ratio. And then, PLBs were cocultivated with a bacterial strain and a 3-day cocultivation period was better for Phalaenopsis PLBs than a prolonged period. Agrobacterium tumefaciens strains LBA4404 (pTOK233) and EHA105 (pGA643) were used to compare their efficiency on the genetic transformation of Phalaenopsis PLBs. The PLBs infected with EHA105 survived more than those infected with LBA4404 after two days in a dark condition and two weeks in light condition on a selective medium. About 1,000 PLBs for each of P. 'Maki Watanabe' and P. 'Brother Lawrence', and each bacterial strain of AGL1 (pCAMBIA3301) and LBA4404 (pTOK233) were used for the regeneration of transgenic plants. The bacterial strain AGL1 had a higher genetic transformation efficiency than LBA4404, with no significant difference between cultivars. In this study, 11 hygromycin-resistant plantlets and 32 PPT-resistant plantlets were produced, but these putative transgenic plantlets need further examinations.
This study is focused on the service quality and customer satisfaction. The survey on the service quality and customer satisfaction has the follows; First, man group compared to female group provision was receiving the service of good quality and also the customer satisfactory degree appeared highly. Also, the quality of the group one recording service where the age is many appeared customer satisfactory boat song highly. Second, the customer satisfaction regarding a high educational background one recording service quality did not appear highly and not to be with the thing recording where the educational background will be high provision to receive a more many serviceit is satisfied it appeared. It follows, consequently in member of society nine statistics quality and service quality of civil expense and the customer satisfaction is a difference and the recording customer where the service quality of civil expense will be high it goes round satisfactorily and there is possibility of saying that. Third, in service quality empathy characteristic of subordinate result, with the fact that static effect it will be going mad to a shedding of corporeal service satisfaction and a security facility satisfaction. The security facility satisfaction where the empathy characteristic and shedding of corporeal service quality will be good is high reflects a fact and it is giving. Fourth, market segment anger strategy and there is a necessity which will form the customer layer which is various. Also, the site for the service of good quality the operation of development and strategy elder brother system of the elder brother system which it fixes is necessary.
1. Background and Purpose At the year of 2000, the society of sasang constitutional medicine acqired ${\ulcorner}$HamsanSachon DongyiSuseBowon GoboGubon${\lrcorner}$ which is presumed as the copy of ${\ulcorner}$GoboGubon${\lrcorner}$. According to Lee Sung-Su who is the great-grandson of DongMu's older brother, $[\ulcorner}$HamsanSachon DongyiSuseBowon GoboGubon${\lrcorner}$ was worked by Lee Jin-Yoon who is the grandson of DongMu's older brother and it was copied by Han Min-Gab and now is owned by Lee Sung-Su who is the son of Lee Jin-Yoon. 2. Method This paper was written in order to understand the character of the discourse on the constitutional symp toms and diseases of ${\ulcorner}$HamsanSachon DongyiSuseBowon GoboGubon${\lrcorner}$. 3. Result and Conclusion 1) Each constitutional symptoms and diseases is classed as that of exterior and interior and then classsed again as that of exterior's exterior, exterior's interior, interior's exterior and interior's interior. 2) The degree of completion is high at the chapter of Soeumin and Soyangin comparing with that of Taeeumin and Taeyangin which don't exist as the contrasted explanation. 3) Soeumin's exterior-disease is divided Taiyang(太陽) and Yangmyung(陽明)'s disease by the sweating, that's interior-disease is same to Sinchukbon(辛丑本). BaboBon already have the concept of UlKwang(鬱狂) and mangYang(亡陽), so the discourse on the constitutional symptoms and diseases of Soyangin is early establish comparing with other constitution. 4) The Cold and Hot, the constitutional symptoms and diseases, the disease theory of Soyangin can be accessible to opposite side of Soeumin's that. The disease of exterior's exterior is only explained abdominal pain and diarrhea without the concept of Mangeum(亡陰) disease, but at the time of SinchukBon the concept of Mangeum-disease is invented. 5) There is many different with SinchukBon that the classification of symptoms and diseases of Taeeumin, and not mentioned the physiology and pathlogy of the airs and fluids metabolism. 6) Healthy Energy(保命之主) show us that JungKi(正氣) is key-point of the utility of the symptoms and diseases.
Baig, Mukhtiar;Bakarman, Marwan A;Gazzaz, Zohair J;Khabaz, Mohamad N;Ahmed, Tahir J;Qureshi, Imtiaz A;Hussain, Muhammad B;Alzahrani, Ali H;Al-Shehri, Ali A;Basendwah, Mohammad A;Altherwi, Fahd B;Al-Shehri, Fahd M
Asian Pacific Journal of Cancer Prevention
/
v.17
no.7
/
pp.3483-3487
/
2016
Background: Cigarette smoking is one of the leading causes of death in the world. Tobacco consumption has grave negative consequences for health so that it is important to understand the reasons and motivations towards cigarette smoking and barriers against quitting smoking among the young generation for developing effective policies to control this widespread problem. Materials and Methods: This cross-sectional survey was carried out at the Faculty of Medicine, Rabigh, King Abdulaziz University, Jeddah, Saudi Arabia. A total of 438 young smokers participated from the University and the general population. Data were collected through anonymous, self-administered questionnaires in the Arabic language that contained questions about the reasons and motivations towards cigarette smoking and barriers against quitting smoking. The questionnaire also contained several questions regarding knowledge and attitude of the participants towards cigarette smoking. The data was analyzed on SPSS-16. Results: The mean age of the respondents was $22.9{\pm}3.48$, out of 438 subjects 87 (19.9%) were married, and 351 (80.1%) were unmarried, and 331 (75.6%) belonged to urban areas while 107 (24.5%) were from the rural areas. Responding to a question about a number of cigarettes smoked per day, 31% answered 11-20, 29% answered 21-30, and 25% answered 1-10. Questioned about smokers in the family, 34.5% responded more than one, with 19% for brother and 13% for father. About the reasons for not quitting smoking, 26% described lack of willpower, 25% had no reason, 22% said that people around me smoke, and 15.3% responded stress at home/work. The major motivation for smokers was smoker friends (42%), for 33.8% others, for 12% father/brother and 7.8% media. Conclusions: There are several avoidable and preventable reasons and barriers against quitting smoking. However, knowledge and attitude about smoking were good, and the majority of the smokers were well aware of the associated hazards. Therefore, there is a need to search out ways and means to help them to quit this addiction.
Park, Seong-Won;Son, Yeong-Bae;Kim, Se-Hwa;Jo, Seong-Yun;Ji, Seon-Tae;Jin, Dong-Gyu
Journal of The Korean Society of Inherited Metabolic disease
/
v.10
no.1
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pp.59-66
/
2010
Enzyme replacement of therapy (ERT) is one of the most promising therapeutic strategies for the treatment of lysosomal storage disorders. ERT is available in three types of Mucopolysaccharidosis (MPS): for MPS I (Aludrazyme$^{(R)}$), MPS II (Elaprase$^{(R)}$) and MPS VI (Naglazyme$^{(R)}$) patients who are over 5 years old. But recently, early diagnosis can be done by expert clinicians and even in prenatal case. We describe the case of ERT under 5 years old MPS patients. Up to June, 2010 in Samsung Medical Center, there are 6patients who were diagnosed as MPS and started ERT under 5 years old. 3 patients were MPS I, 3 patients were MPS II. 2 patient who was diagnosed as MPS I was female and others were male. Their age at diagnosis were 4 to 37month-old (4, 13, 16, 25, 27, 37 month-old) and they are now 9 to 60 month-old (9, 39, 32, 81, 60 month-old). The youngest patient was started ERT at 4 month-old and others were started at their 13 to 49 month-old (13, 29, 27, 28, 49 month-old). First manifested symptoms of patients were macrocephaly, kyphosis and coarse face appearance. Especially, in 2 of them, one was MPS I and the other was MPS II had elder brother with same disease. And the youngest one was diagnosed by the iduronate-2-sulfatase (IDS) gene analysis from chorionic villi sampling. His mother knew that she was a heterozygous carrier of IDS gene mutation because her younger brother died from MPS II. All of them confirmed as MPS by the enzyme assay in leukocytes and fibroblast skin culture. We started ERT with ${\alpha}$-L-iduronidase(Aldurazyme$^{(R)}$) to MPS I and did recombinant human iduronate-2-sulfatase (Elaprase$^{(R)}$) to MPS II patients as recommended dose as over 5 years old. But for MPS II patient who was 4 month old, we started ERT by recombinant human IDS (Elaprase$^{(R)}$) with reduced dose 0.1 mg/kg and increased dose every 2 weeks by 0.1mg/kg up to 0.5mg/kg IV infusion. During ERT, all patients had no adverse effects and the excretion of GAGs were decreased. We have evaluated other clinical symptoms such as liver/ spleen volume, heart function and neurologic evaluation. We describe a successful ERT to MPS I and MPS II patient under 5 years old without any adverse event. It indicates that ERT in young children are well tolerated and that it has several effects which may confer clinical benefits with long-term therapy.
1. Background and Purpose ${\ulcorner}$DongyiSooseBowon${\lrcorner}$ is the book that was mixed ${\ulcorner}$GaboBon${\lrcorner}$ and ${\ulcorner}$KyungjaBon${\lrcorner}$ which was written by DongMu. But hardly any clause or text of the GaboBon excepting ${\ulcorner}$DongyiSooseBowon${\lrcorner}$ has been described. At the year of 2000, the society of sasang constitutional medicine acqired ${\ulcorner}$HamsanSachon DongyiSooseBowon GaboGubon${\lrcorner}$ which is seen as a written copy of ${\ulcorner}$GaboBon${\lrcorner}$. According to Lee Sung-Su who is the great-grandson of DongMu's older brother, ${\ulcorner}$HamsanSachon DongyiSooseBowon GaboGubon${\lrcorner}$ was worked by Lee Jin-Yoon who is the grandson of DongMu's older brother, and it was copied by Han Min-Gab and now is owned by Lee Sung-Su who is son of Lee Jin- Yoon. 2. Methods This paper was written in order to understand of ${\ulcorner}$HamsanSachon DongyiSooseBowon GaboGubon${\lrcorner}$ through the study to focus on the bibliographical character. 3. Result and Conclusion 1) It is reasonable that ${\ulcorner}$HamsanSachon DongyiSooseBowon GaboGubon${\lrcorner}$ had copied to the original ${\ulcorner}$DongyiSoose Bowon GaboGubon${\lrcorner}$ which was written by DongMu. 2) We can find the character of ${\ulcorner}$HamsanSachon DongyiSooseBowon GaboGubon${\lrcorner}$ as follows. (1) It has the table of contents, the definition of the number of the texts, and the article number of each texts. (2) ${\ulcorner}$KyungJaBon${\lrcorner}$ and ${\ulcorner}$SinchukBon${\lrcorner}$ has different number of the texts about ${\ulcorner}$The general remarks on the Soyangin${\lrcorner}$. (3) It is different with original ${\ulcorner}$GaboBon${\lrcorner}$ because of the extracting marks of the text. (4) It is supposed that it has the pares which was additionally or wrongly amended by someone. 3) We can consider that the character of original ${\ulcorner}$GaboBon${\lrcorner}$ which was written by DongMu from ${\ulcorner}$HamsanSachon DongyiSooseBowon GaboGubon${\lrcorner}$ as follows. (1) ${\ulcorner}$The Discourse on Nature and Order${\lrcorner}$${\sim}$${\ulcorner}$The Discourse on the Four Principles${\lrcorner}$ is original articles of ${\ulcorner}$GaboBon${\lrcorner}$. (2) The head title of${\ulcorner}$The Discourse on the Origin of Oriental Medicine${\lrcorner}$ was not in ${\ulcorner}$GaboBon${\lrcorner}$. (3) It is not clear whether ${\ulcorner}$The Discourse on the General Health Maintenance${\lrcorner}$ and ${\ulcorner}$The Discourse on Identifying Four Constitutions${\lrcorner}$ is original texts or amended texts of ${\ulcorner}$GaboBon${\lrcorner}$. So it is required more study about it.
1. Background and Purpose At the year of 2000, the society of Sasang Constitutional Medicine acquired ${\ulcorner}$HamsanSachon DongyiSooseBowon GaboGubon${\lrcorner}$ which is seen as a written copy of ${\ulcorner}$GaboBon${\lrcorner}$. According to Lee Sung-su who is the great-grandson of DongMu's older brother, ${\ulcorner}$HamsanSachon DongyiSooseBowon GaboGubon${\lrcorner}$ was worked by Lee Jin-yoon who is the grandson of DongMu's older brother, and it was copied by Han Min-gab and now is owned by Lee Sung-su who is son of Lee Jin-yoon. 2. Methods This paper was written in order to understand of the character of the discourse on the medications and prescriptions of the ${\ulcorner}$HamsanSachon DongyiSooseBowon GaboGubon${\lrcorner}$. 3. Result and Conclusion 1) Newly created prescriptions of ${\ulcorner}$GaboBon${\lrcorner}$ is composed of the 125 medications of Soeumin 46, Soyangin 36, Taeumin 29, Taeyangin 14. Regarding with that prescriptions, the average number of the medications per prescription is 9.3 and the average capacity of that is 42.6gram. 2) The experimental prescription is from ${\ulcorner}$GaboBon${\lrcorner}$. All the 37 prescriptions of ${\ulcorner}$Sanghanlon${\lrcorner}$ is found at the text of ${\ulcorner}$GaboBon${\lrcorner}$, and only 12 of 37 prescriptions of Traditional Medicine excepting ${\ulcorner}$Sanghanlon${\lrcorner}$ is described at the text of it. Hardly any case of treatment by Traditional Prescription can be found at the discourse on constitunal symptoms and diseases. 3) Only 13 of 69 newly created prescriptions is not prescribed at ${\ulcorner}$GaboBon${\lrcorner}$, and 7 of the 13 prescriptions don't have the symptom of charge also. 4) 6 prescriptions which are supposed to newly created prescriptions of ${\ulcorner}$The Discourse on Constitutional Symptoms and Diseases${\lrcorner}$ are not describe to the composition of medications. 5) All the newly created prescriptions of ${\ulcorner}$The General Remarks on the Soeumin${\lrcorner}$ of ${\ulcorner}$SinChucBon${\lrcorner}$ are to be regarded as GaboBon's.
This study examined the current trend of the qualitative researches on the experiences of individuals who have siblings with disabilities. This study analyzed 17 research articles that either have been published in journals or nominated during the recent ten years, attempting to suggest future directions of the research on siblings who have siblings with disabilities. This study analyzed 17 research papers examining their participants, research methods, and research topics. The results of the previous literature analysis are the followings. Phenomenological approach is the most frequently used research method and normally developing siblings who were in their 20s participated in the researches most. As most research papers did not consider the normally developing siblings birth order, sex, and types of disabilities, future researches will need to specify these variables. The results of this study suggest the followings. Researchers have tried to investigate and understand the experience of the individuals who have siblings with disabilities, using phenomenological research method. Future research should go beyond the phenomenological research to developed theories that can affect the government policies, employing various research methods with specified participants. Further, this study has also identified that the individuals who have siblings with disabilities wanted to be identified as a separate cohort that needs to be researched and receive support.
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