• Journal of Genetic Medicine
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• v.9 no.2
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• pp.73-77
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• 2012

Purpose: Fragile X carrier detection before or at early pregnancy through a wide screening program may not only confer a risk of having offspring with Fragile X syndrome (FXS), but may also confer a risk for Fragile X-associated primary ovarian insufficiency and Fragile X-associated tremor/ataxia syndrome. However, prior to the implementation of such a program, the carrier prevalence in a population and the availability of effective screening test should be evaluated. The aim of our study was to determine the prevalence of premutation carriers and to evaluate the feasibility of screening test. Materials and Methods: The blood samples were obtained from 8,641 pregnant women with no family history of mental retardation. We performed a three-primer CGG repeat primed (RP) PCR using the AmplideX$^{TM}$ FMR1 PCR kit (Asuragen, Inc. Austin, TX, USA). Samples showing full mutation alleles were reflexed to Southern blot analysis for methylation status and sizing. Results: Among the 8,641 women, we found 8 premutation carriers (1:1,090, 0.09%) and 46 women with an intermediate allele (1:190, 0.53%). No woman was found to carry the fully mutated allele. All the detected alleles were within the CGG repeat range of 8-117. Among the 8,641 samples, 29 and 30 CGG repeats represent 66.6% of all cases. The CGG RP PCR method provides robust detection of expanded alleles and resolves allele zygosity, thus minimizing the number of samples that require Southern blot analysis. Conclusion: This is the first study that has focused on the prevalence of FXS premutation carriers and FMR1 allele distribution in normal pregnant women. These data have important implications for population-based fragile X carrier screening in Korea.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.8 no.1
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• pp.10-14
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• 2012

Self-injurious behavior (SIB) has been defined as the deliberate destruction or alteration of body tissue without conscious suicidal intent. It occurs in conjunction with a variety of psychiatric disorders as well as various developmental disabilities and some syndromes. The behavior is destructive and causes concern and distress to all involved in the care and treatment of the affected individual. A 13-year-old girl with autism, mental retardation and delayed development was reffered from her pediatrician because of severe and painful lower lip biting. An intraoral examination revealed a diffuse swelling of lower lip. It was covered with necrotic slough and the ulcer and scarring of the lower lip was observed. We chose to use an oral removable prosthesis for Conservative treatment. It was decided to use a soft silicone mouthguard in the maxillary arch. Initially, she could not tolerate the appliance inside her mouth but soon adapted with the appliance. After one month, she lost the mouth guard and started lip biting. So we made mouth guard again. There are no standard methods for preventing self-injurious behavior in a patient who is developmentally disabled. Appropriate preventive methods must be developed for each individual patient based on close observation and clinical findings. Behavior modification techniques, pharmacological treatment, extraction of teeth, orthognathic surgery and intra/extra oral appliances can be performed for adjust self-injurious behavior. A suitable oral guard could be tried initially before employing more invasive approaches.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.9 no.2
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• pp.122-126
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• 2013

Cerebral palsy is one of the primary handicapping conditions of childhood. The prevalence of malocclusions in patients with cerebral palsy is approximately twice than in general population. Even though these high rates of malocclusions, most clinicians may feel uncomfortable about treating such problems to reduce inclination of anterior teeth because to reduce of protrusion makes to decrease risk of trauma. This is the case report about mitigation of maxillary anterior teeth protrusion in patient with cerebral palsy. A 14 year old boy who had cerebral palsy visited our dental hospital. He had severe protrusive maxillary anterior teeth and narrow arch form. He was experienced at using Castillo morales appliance in early childhood. He had mild mental retardation and was able to learn simple skills. He and his parents had willing to improve his dental problems. A gentle impression taking on maxilla was done. Removable appliance was made including median screw and labial bow. We provide a period of adaption for 3 weeks. After of anterior teeth through activation of labial bow was done once a month by dentist. The treatment carried out for 10 months and we could observe reduced labial inclination of maxillary right central incisor and more wide arch form. Hawley type retainer was set at maxilla for retention. In conclusion, accompanying careful case selection and treatment, patient with cerebral palsy can be treated and should not be ignored their orthodontic needs.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.9 no.1
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• pp.51-55
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• 2013

Lennox-Gastaut syndrome (LGS) is a severe form of childhood epilepsy that is defined by generalized multiple type seizures, slowness of intellectual growth, and a specific EEG disturbance. Children affected might previously have infantile spasms or underlying brain disorder but etiology can be idiopathic. LGS seizures are often treatment resistant and the long term prognosis is poor. A 14-year-3-month old, 20.5 kg girl with LGS was scheduled for dental treatment under general anesthesia. The patient presented with multiple caries and heavy calculus. General anesthesia was induced and maintained with inhalation agent, Sevoflurane. And caries treatment, scaling, subgingival curretage were performed. LGS patients usually have poor oral hygiene due to mental retardation and have high risk of seizure during dental treatment. In dental treatment under general anesthesia for LGS, it must be considered of seizure control during peri-operative period. Also periodic recall check, instruction of oral hygiene must be performed.

• Journal of agricultural medicine and community health
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• v.13 no.1
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• pp.26-31
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• 1988

An epidemiological study was undertaken to evaluate the prevalence of E. vermicularis infestation among children in primary schools and orphanages. A total of 2,966 children in primary schools and orphanages was examined for F. vermicularis by means of cellotape anal swab technique. The purpose of the present studies is to determine the prevalence of enterobiasis among children and to make a comparison with the rate of infestation by survey areas. The result could be summarized as follows : 1) The egg positive rate of cellotape anal swab method was 16.3% out of 2,966 children. 2) The egg positive rate of urban area was 6.9% out of 1,144 children and the egg positive rate of rural area was significantly higher than that of urban area. 3) The egg positive rate of boys and girls were 15.7% out of 1,528 children and 16.9% out of 1,438 children. 4) The egg positive rate of primary schools, orphanages and mental retardation child group was 11.3% (out of 2,412), 32.7% (out of 416) and 55.1% (out of 138) respectively. There was noted a tendency of decrease in prevalence by increase of the age.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.57-61
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• 2016

Isovaleric acidemia (IVA) is an autosomal recessively inherited organic acid disorder due to a defect of the enzyme isovaleryl-CoA dehydrogenase in the leucine metabolic pathway. Deficiency of this enzyme results in the accumulation of derivatives of isovaleryl-CoA. In acute illness in IVA, isovaleric acid and its derivatives accumulate and profound metabolic acidosis with ketosis, characteristic pungent body odor, hypoglycemia, and hyperammonemia can be developed. Additionally, recurrent vomiting, failure to thrive, developmental delay, epilepsy and mental retardation are chronic presenting symptoms and signs for IVA. On the result of newborn screening for inherited metabolic disorders, increased levels of isovalerylcarnitine (C5) are shown. However, C5 elevation can be accompanied with short/branched-chain acyl-CoA dehydrogenase (SBCAD) and therapy with certain antibiotics containing pivalic acid. Quantitative measurement of organic acids in urine and acylcarnitine profiles in plasma are necessary to differential diagnosis. Molecular genetic analysis of the IVD gene for IVA and ACADSB is also helpful to confirm IVA and SBCAD deficiency, respectively. Considering that IVA can be associated with significant morbidity and mortality at acute presentation of metabolic crisis, early diagnosis prior to the onset of symptoms by newborn screening enable to introduction of early treatment and prevention of acute and chronic complications.

• Journal of the Korean Society for Library and Information Science
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• v.46 no.3
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• pp.35-55
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• 2012

This study aims to serve as the basis for the librarian training curriculum model for the disability services. To achieve this, a theoretical study was carried out through literature and investigated and analyzed on the disability services of Public Libraries in Seoul and on the status of Library and Information Science curriculum for the disability services in Korea. The research results are summarized as follows: First, only one university and one graduate school in Korea offers a curriculum for training librarians for the disability services. Second, since 2010 a continuing education program for librarians in charge of the disability service has been offered every year by the National Library of Korea, Librarians who completed this course have been surveyed for their opinions and the results have been reflected in the following course. Third, currently among the disabled users in public library the users with mental retardation, emotional and behavioral disorders, and autism are more than the visually impaired users. Most of the disability service has been a lending for general materials. According to telephone interviews, librarians who actively carry out the disability service need to understand the disability and, more information about operations and planning of cultural program for the disabled users.

• Archives of Plastic Surgery
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• v.33 no.5
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• pp.669-671
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• 2006

Purpose: Congenital insensitivity to pain with anhidrosis(CIPA) is a rare form of autosomal recessive peripheral sensory neuropathy. Patients with CIPA show loss of pain sensation, which leads to corneal ulcers and opacities, self-mutilation of the tongue and fingertips, as well as fractures with subsequent joint deformities and chronic osteomyelitis. The purpose of this report is to highlight the fact that pressure sores also are a potential complication of CIPA. Methods: This case report describes a patient presenting with pressure sores resulting from CIPA. A 5-year-old boy was referred to our department for the treatment of a $5{\times}5cm$ sacral pressure sore as a result of a hip spica cast applied for the treatment of a left hip joint dislocation. He had a history suggesting CIPA such as multiple bony fractures, mental retardation, recurrent hyperpyrexia, anhidrosis, and clubbing fingers due to oral mutilation. A microscopic examination of the sural nerve showed mainly large myelinated fibers, a few small myelinated fibers and an almost complete loss of unmyelinated fibers. After wound preparation for two weeks, the exposed bone was covered with two local advancement flaps. Results: Two weeks later, complete wound healing was achieved. A 16-month follow-up showed no recurrence. However, the patient presented with a new pressure sore on the left knee due to orthosis for the treatment of the left hip joint dislocation. Conclusion: The early diagnosis of CIPA and special care of pressure sores are important for preventing and treating pressure sores resulting from CIPA.

• Journal of Korean society of Dental Hygiene
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• v.11 no.1
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• pp.103-111
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• 2011

Objectives : This study of oral health problems was conducted to 311 students in Special Schools in order to inquire into the state of their oral health behaviors, to find out the main obstacles against dental services, to secure dental reasonable basis for oral health promotion. Methods : A questionnaire survey was conducted in the Special School of the 311 students in the area of the metropolitan Seoul. By means of Chi-squared test and Fisher's exact test, oral hygiene habits for each type of the subjects, the contents of dental care services, the prerequisites to improve oral health, were inquired. To evaluate the effects to the current oral health status of types of disability, 2-way ANOVA was practiced. Results : The handicapped with Visual impairment, mental retardation, multiplicity with disabilities, answered negatively in their own oral health status. 47.4% of the deaf can do brush for theirselves without the inconvenience, but in other types of disability they showed that they were helped by others. Subjects did not use the secondary oral hygiene necessaries because, except brain damage, almost of types of disability impeded the convenient use. 60 to 88.2 percent of the total respondents were the recent visitors to dental clinique within 1 year, and the most common motives of the visiting dentist, is a routine medical examination, their movements to the dentist in all types of disabilities, needed helps of others. Most of them received medical treatment at a private dentist, the handicapped preferred the private care and place(49.8%). Only in the case of the brain disorders, extremely much of the disabled answered that they were needed the preventive treatment, and the another cases of disability were largely needed the treatment of the decayed teeth. To improve the oral health of the people with disabilities, at the opening of the clinics and hospitals over a certain size, the mandatory medical facilities for the care of the disabled should be preceded and followed by the improvement of dental insurance system so as to reduce the burdens of the cost of dental care. Conclusions : The improvement of oral health policy for the disabled are needed inevitably: Development of secondary oral hygienic easy to use for the disabled, the building systems of medical dental hospital with the disabled facilities, by the improvement of the insurance system, the reduction of the burden of payments.

• Clinical and Experimental Pediatrics
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• v.48 no.6
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• pp.669-674
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• 2005

Nephrogenic diabetes insipidus (NDI) is a disorder in which the secretion of antidiuretic hormone is normal, but the response of the renal collecting tubules to vasopressin is impaired. Compared with acquired NDI (a-NDI), which is secondary to chronic bilateral incomplete urinary tract obstruction with hydronephrosis, congenital NDI (c-NDI) is a very rare heritable disorder that usually follows the X- linked recessive pattern. Clinical symptoms of c-NDI can be non specific, and often the disease ultimately results in failure to thrive, or mental retardation. Recently, the diagnosis can be confirmed by direct sequencing analysis of the peripheral blood specimens. The long-term results of treatment for c-NDI are not satisfactory. Reports on the follow up of c-NDI cases are rare and there is no report on the cases treated with combinations of three drugs. We report herein a case of severe c-NDI in an 8 year-old-boy with a severely dysconfigurated urinary tract system. The patient and his mother showed a frameshift mutation on the AVPR2 gene on chromosome Xq28:.847_851delTGCTG (p.C283fsX90). The patient showed normal growth and development by treatment with combinations of hydrochlorothiazide ($65mg/m^2$), amiloride (0.3 mg/kg/d) and indomethacin ($100mg/m^2$), yet after five years he needed adjuvant cystostomy to relieve him from the residual symptoms of urgency with polyuria.