• Journal of Life Science
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• v.9 no.6
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• pp.704-708
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• 1999

This research was carried out for evaluating diagnostic value of antibody test in Fragile X syndrome. In antibody test of control individuals and carriers with a premutation, FMRP were detected in the lymphocytes, whereas the lymphocytes of male Fragile X syndrome patients were devoid of FMRP. Five Fragile X syndrome male patient, two Fragile X syndrome female patients, three carriers were diagnosed by southern blot. Five boys who were diagnosed as the patients by antibody test were turned out full mutation and having multiple smear beside normal single band. However, fragile site of X chromosome was not expressed in Fragile X syndrome patients by chromosome analysis. These results showed that antibody test was a fast and simple method, but the diagnostic power was "perpect" for males, whereas the results were less specific for females.r females.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.5 no.1
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• pp.108-117
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• 1994

Twenty nine children with autism and thirty children with mental retardation were examined for association between autism and chromosomal disorders including fragile X. The peripheral blood was cultured in Medium 199 with methotrexate and without methorexate for 70 hours. Thirty metaphase cells in each case were karyotyped in all samples. Chromosomal abnormalities were found in 11 cases(37.9%) of autistic disorder and 10 cases (33.3%) of mental retardation, but in none of fragile(X)(q27.3) from all cases. Chromosomal abnormalities were present on group A, C, D and X in autistic disorder and on group A, B, C, D, E and X in mental retardation. No specific chromosomal region was found in both autistic disorder and mental retardation. Types of chromosomal disorders were only fragile and/or gap but no numerical abnormality was present in all cases. Number of cells which revealed fragile sites were 31 cells(3.6%) out of 870 cells in autistic disorder and 29 cells(3.2%) out of 900 cells in mental retardation Number of cells which revealed gaps were 43 cells(4.9%) out of 870 cells in autistic disorder and 35 cells(3.9%) out of 900 cells in mental retardation. Autistic disorder may not be directly correlated with fragile X but with nonspecific chromosomal breakages from these data.

• Asian-Australasian Journal of Animal Sciences
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• v.21 no.8
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• pp.1103-1108
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• 2008

An investigation to determine frequency and distribution of folate sensitive chromosomal fragile sites was carried out in a Pakistani breed of Lohi sheep to uncover fragile site phenomena. The means and standard errors of aberrant cell count (AC) and Number of aberrations (NoA) in Lohi sheep were $0.56{\pm}0.15$ and $0.59{\pm}0.16$ in the control cultures. FUdR treated cells showed significantly higher (p<0.001) AC and NoA means ($2.18{\pm}0.33$ and $2.65{\pm}0.50$). The sex comparison for the frequency of expression indicated that males had significantly higher number of aberrant cells and total number of aberrations in FUdR cultures than the female group in Lohi sheep. The comparison of control cultures was however, not significantly different between the two groups. The regression analysis of FUdR-induced chromosomal fragility data analysis of the fragility data predicted very low ${\beta}$ of 0.325 and 0.412 for AC and NoA respectively. Lohi chromosomes expressed lesions in only 7 and 24 bands in the control and FUdR cultures respectively. The total number of significantly fragile bands in the Lohi genome was only 4. The X-chromosome of the Lohi sheep was highly stable at $5{\mu}g/ml$ FUdR with no fragile sites. The sex comparison for the distribution of fragile sites across the Lohi genome did not reveal any noticeable differences.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.3 no.1
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• pp.147-157
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• 1992

The fragile X syndrome, which is considered to be synonymous with the Martin-Bell syndrome, is a relatively common form of X-linked mental retardation. The syndrome seems to occure in many different ethnic groups and its prevalence among mentally retarded males has been estimated to be in the order of 2 to 6%. The karyotypic hallmark of the syndrome is made up with a pronounced constriction near each tip of the long arm of the X chromosome(fragile site), shown in vitro only under conditions in which thymidylate production is blocked(lowered folate levels). Special culture media are needed to demonstrate this constriction site. Major clinical features associated with the syndrome include macroorchidism, large or prominent ears, significant emotional and behavioral dysfunctions such as hyperactivity, self-injury, lack of eye contact and social interaction, schizophrenia, autism, etc., and speech and language dysfunctions ranging from nonverbal to verbal speech with moderate to severe expressive language delays. Some have minor clinical features in common such as an increase in birth weight high forehead, prognathism, increased head circumference in infancy and childhood which did not persist into adult life. The recent research findings have shown that the fragile X syndrome is associated with infantile autism. Many patients with the fragile X syndrome fulfill the diagnostic criteria for infantile autism. Therefore it is recommendable that any patient with developmental delays and autism or autistic manifestations should have a chromosomal analysis, including fragile X examination. In the present review, historical aspects, incidence, and clinical features are presented. Recent anecdotal reports of the association with autism and the clinical improvement following high dose folic acid treatment will be discussed.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.11 no.1
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• pp.3-15
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• 2000

Objectives：There has been a rapid expansion of studies aimed at elucidating the genetic basis of autistic disorder, especially it’ relationship to fragile-X syndrome. The detection of fragile X chromosome(Xq27.3) by cytogenetic analysis has revealed many difficulties in testing. Therefore, to explore the relationship between autistic disorder and fragile X syndrome, this study administered molecular biologic methods which examined an unstable CGG repeat within the fragile X mental retardation-1(FMR-1) gene. Methods：Ninety nine autistic children and eight normal control children were tested. The number of CGG repeats within FMR-1 gene was measured after amplification by PCR, and cytogenetic analysis was also carried out to detect fragile site Xq27.3. Southern blot hybridization, using StB12.3 and/or Pfxa3 probe, was done for the patients showing expansion of more than 50 CGG repeats (premutation). Results：All but two autistic patients had no expansion in CGG repeats by PCR and there was no significant statistical difference in number of CGG repeat in comparison with normal control. Two autistic patients, considered as premutation by PCR analysis, had no full mutation or premutation by Southern blot hybridization. All autistic children tested did not have any abnormal karyotype or fragile site Xq27.3. Conclusions：These results suggest that autistic patients may not have abnormality in FMR-1 gene or abnormal expansion in CGG repeat. In conclusion, fragile X syndrome may not be antecedent of autistic disorder.

• Clinical and Experimental Pediatrics
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• v.46 no.12
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• pp.1186-1193
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• 2003

Purpose : Fragile sites are points on chromosomes which tend to break non-randomly when exposed to specific chemical agents or conditions of tissue culture. The chromosomal break induced by the antineoplastic drug, 1-${\beta}$-D-arabinofuranosyl-cytosine(Ara-c), was investigated to study the laboratory conditions in which the incidence of chromosomal break could be enhanced. Besides, the fragile sites induced by Ara-C were investigated and compared to the already known locations of the specific chromosomal alterations observed in specific neoplasms. Methods : T-lymphocytes from theree normal males and three females were cultured for 48 hours. Cells from each individual were exposed to the Ara-C for an additional 24 hours. After the caffeine was added during the last six hours culture, the metaphase chromosomes were prepared following the conventional method. A site was considered fragile if it was found to break two or more per 100 chromosomal breaks in more than four of six individuals tested. Results : Ara-C induced 252.1 chromosomal breaks per 100 mitotic cells and this result was significantly higher than that of the control, which induced 25.2 breaks(P<0.05). The incidence of the chromosomal break by Ara-C was higher, if cultured in the MEM-FA, which has no folic acid, than in the RPMI 1640 which contains enough folic acid(P<0.05). The most common break site by Ara-C was 3p14.2(FRA3B). There were 20 fragile sites induced by Ara-C. Among these 20 fragile sites, seven coincided with the locations of the mapped oncogenes, JUN, SKI, REL, N-MYC, FHIT, MET, ETS-1, and FOS. Conclusion : S phase specific chemotherapeutic agent, Ara-C, induced the expression of the chromosomal fragile sites effectively using the T-lymphocyte in vitro. Some of the fragile sites by Ara-C highly coincided with the oncogenes and neoplasm specific chromosome breakpoints. In this regard, the fragile sites reported here could provide the unknown neoplasm related chromosomal alternation points.

• Journal of Korean Neurosurgical Society
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• v.29 no.4
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• pp.521-527
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• 2000

Objective : In general, most of saccular aneurysms arise at arterial divisions, but those arising at unbranched site are rare. These aneurysms might impose neurosurgeons a formidable surgical challenge, due to uncommon features and a difficult surgical technique. Methods : Between the period of Jan. 1996 and Dec. 1998, a total of 110 cases of aneurysms were operated. Among them, five cases of unbranched site aneurysms were retrospectively analyzed through medical records, angiographic and operative findings. Results : The incidence of aneurysms unrelated to arterial branches was 4.5%. All cases presented with subarachnoid hemorrhage(SAH) ; three(60%) were at internal carotid artery(ICA) and two(40%) at middle cerebral artery (MCA). Two had a history of hypertension and three showed atherosclerotic changes in the arterial wall. One ICA and one MCA aneurysms proved to be a blood blister-like aneurysm(BBA) in their shape. Strikingly, a rapid neurological deterioration was shown in two ruptured ICA variants, which resulted in death and another two aneurysms left with morbidity. Conclusion : The preoperative neurological status in most cases was relatively poor compared to that of aneurysms arising at a branched site. Regarding its pathogenesis, atherosclerosis as well as hemodynamic factors may play an important role in formation of these variant aneurysms among various etiological factors. The overall prognosis of unbranched site aneurysms was worse than that of branched site aneurysms. In cases of BBAs, special attention was requisite to handle them during clipping and/or wrapping due to an easy fragile, thin aneurysmal wall.

• Korean Institute of Interior Design Journal
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• no.21
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• pp.107-113
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• 1999

The purpose of this study is to suggest the materials for developing the new house style by analysing the space characteristics of wood frame houses in suburbs of Seoul. For this, we analysed 45 drawings(site plan, floor plan, elevation, section) that were designed by MICHOO, WOOD-LAND, STUGA and CHOWONJUTECK company etc. The space design characteristics that we found are as follows; 1. The wood is fragile to humidity. Therefore this characteristic is especially considered in designing the space of bathroom and utility room. 2. It is the merit of wood frame house that inner space can be designed variously by using spilt-level and the slope of roof. 3.The public space and private space are completely separated in most cases and the stair is located in the middle of house. This structure of house is short of horizontal openness. Instead, most houses gets vertical openness by making second floor on the living room opev. 4. In wood frame house as the rural house, the outer space is well used by setting up deck and balcony. The outer spaces like deck and balcony are usually used as a part of life space in connected with living room, dining room, master bed room and family room. 5. The public spaces like kitchen, living room, dining room and family room are considered so important in design that those are arranged in front in order to have good outlook and directiov.

• Geomechanics and Engineering
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• v.21 no.2
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• pp.133-142
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• 2020

Submerged floating tunnel (SFT) is a type of tunnel which causes the tunnel segments to float in the water. When the SFTs are connected to the ground, the connection between the SFT and the subsea bored tunnel is fragile due to the difference in behavioral characteristics between the two types of tunnels. Therefore, special design and construction methods are needed to ensure the stability of the area around the connection. However, since previous research on the stability of the connection site has not been undertaken enough, the basic step necessitates the evaluation of ground behavior at the shore connection. In this study, the numerical analysis targeting the shore connection between the subsea bored tunnel and the SFT was simulated. The strain concentration at the shore connection was analyzed by numerical simulation and the effects of several factors were examined. The results showed the instability in the ground close to the shore connection due to the imbalance in the behavior of the two types of tunnels; the location of the strain concentration varies with different environmental and structural conditions. It is expected that the results from this study can be utilized in future studies to determine weak points in the shore connection between the submerged floating tunnel and the subsea bored tunnel, and devise methods to mitigate the risks.

• Advances in Computational Design
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• v.4 no.3
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• pp.295-305
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• 2019

The sealing cement of total hip arthroplasty is the most widely used binder in orthopedic surgery for anchoring implants to their recipient bones. Nevertheless, this latter remains a fragile material with weak mechanical properties. Inside this material cracks initiate from cavities. These cracks propagate under the effect of fatigue and lead to the failure of this binder and consequently the loosening of the prosthesis. In this context, this work consists to predict the position of cracks initiation and their propagations path using the Extended Finite Element Method (XFEM). The results show that cracks can only be initiated from a sharp edges of an ellipsoidal cavity which the ratio of the minor axis over the major axis is equal to 0.1. A maximum crack length of 19 ?m found for a cavity situated in the proximal zone position under a static loading. All cracks propagate in same(almost) way regardless of the cavity(site of initiation) position and its inclination in the proximal zone.