• 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).

• Clinical and Experimental Pediatrics
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• v.45 no.10
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• pp.1199-1203
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• 2002

Purpose : The study aimed to evaluate the efficacy of auditory brainstem response(ABR) as a screening tool in children with speech and language disorders. Methods : Between January 1, 1999 and December 31, 2001, 139 patients with chief complaints of speech and language delay were recruited from the pediatric neurology clinic, Kyungpook National University Hospital, Daegu, Korea. They had ABR on entry and the clinical data were then analyzed. Results : Fifteen out of 139 cases(10.8%) showed abnormal findings; seven had pervasive developmental disorders, four had developmental language disorders, and four were noted to have other conditions. Among them, seven cases were noted to have conductive hearing loss and eight had sensoryneuronal hearing loss. We also evaluated the normal values in children at the ages of 18 months to seven years. The mean latency of wave I and V were $1.40{\pm}0.13$ and $5.57{\pm}0.26$ respectively. Interpeak latency of I-V was $4.18{\pm}0.24$. Conclusion : Based on these findings, ABR has proved to be a highly sensitive and specific index of hearing impairment. It should be used as a screening tool in children with speech and language disorders.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.13 no.1
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• pp.93-103
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• 2002

The aim of this study is to examine the diagnostic profiles and related clinical variables of children with attention and hyperactivity in psychiatric outpatient clinic. Seventy one children with age range of 5 to 14 were diagnosed by DSM-IV, and assessment battery including KEDI-WISC, KPI-C, ADS(ADHD Diagnostic System) were completed. The subjects were divided into 3 diagnostic groups：ADHD only(n=17), ADHD comorbid(n=27), Other diagnosis(n=27). The results were as follows：In ADHD comorbid group, tic disorder, developmental language disorder, borderline intellectual function, oppositional defiant/conduct disorder, and learning disorder were combined in descending order. Other diagnosis group consisted of tic disorder, borderline intellectual function, depression/anxiety, oppositional defiant/conduct disorder, and others. There were significant differences in IQ, PIQ, and VIQ among the three groups, and ADHD only group showed higher scores of IQ and VIQ than ADHD comorbid group. On the KPI-C, there were no significant differences in all subscales among the three groups. On the visual ADS, omission error and sensitivity showed significant differences among the three groups, and ADHD comorbid group represented higher omission error and lower sensitivity than other diagnostic group. The findings indicated that the inattention and hyperactivity symptoms could be diagnosed into diverse psychiatric disorders in child psychiatry, and ADHD children with comorbidity will show more problems in academic performance and school adjustment.

• Journal of the Korean Arthroscopy Society
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• v.16 no.1
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• pp.72-78
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• 2012

The rotator cuff is situated in a potential tight subacromial space and undergoes senescent structural changes commonly observed in other joints of the body. When the cuff fails, spontaneous healing of the torn tendon is not expected to occur, and multiple factors may be responsible. Its fibers are under tension and typically retract on tearing. The subacromial bursal inflammation and alterations in normal glenohumeral kinematics have been considered in the development of symptoms. Controversy continues to exist concerning the pathogenesis of rotator cuff disease. The heterogeneity of the disorder, as well as the notion that rotator cuff disease may not actually represent a continuum of the same process, but rather, is a compilation of independent disorders, may partly explain the differing viewpoints on its origin. Two contrasting pathogenetic mechanisms have been extensively described and include vascular, or intrinsic, causes and impingement, or extrinsic, factors. Other etiologies have also been reported that include trauma, congenital or developmental factors, and instability. For successful treatment of the rotator cuff diseases, it is essential to understand the structure and function of rotator cuff and to clarify the pathogenesis and natural history of its disorder.

• The Journal of the Korea Contents Association
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• v.11 no.3
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• pp.327-338
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• 2011

This study was conducted to determine the degree of satisfaction and the demand for the current education service of language therapy. We surveyed a total of fifty two nurturers of children who had been diagnosed as autistic. A three-part questionnaire that covered the environment of the therapy institution (7 questions), the programs provided by the Speech-Language Pathologist (7 questions) and the degree of satisfaction and the demand for therapy education (7 questions) was used. The study results showed, in the area of the institution environment for therapy education, that the degree of satisfaction was highest for Social Welfare Center users due to the therapy costs. The level of satisfaction then decreased in the order of private clinic users and general hospital users. However, in the area of education programs provided by Speech-Language Pathologists, it was highest for the users of general hospitals due to the proper contents of the programs and consulting service. The satisfaction level then decreased in the order of private clinic users and Social Welfare Center users. Regarding the level of satisfaction with therapy education and related demand, the degree of satisfaction with language therapy and all therapy education services was generally satisfactory. After the language therapy, the children showed considerable improvement in their living skills (60% of survey respondents) and psychological stability (stress reduction, 30% of the total survey respondents). Regarding the future demand for therapy education, the degree of demand was high for the individual and group language therapy education service. In summary, the results of this study uncovered a number of problems related to services provided by language therapy education institutions and suggested various implications that Speech-Language Pathologists and relevant professionals should endeavor to use so as to enhance the satisfaction level of therapy education for autistic children.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.4 no.2
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• pp.249-255
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• 2001

Methylmalonic acidemia is a rare congenital autosomal recessive metabolic disease. It is caused by blocking in the pathways of isoleucine, valine, threonine, methionine, cholesterol and odd-chain fatty acids to succinyl CoA, resulting in the increase of L-methylmalonyl CoA and methylmalonic acid. In most cases, there are symptoms such as recurrent vomitings, lethargy and laboratory abnormalities including metabolic acidosis and hyperammonemia from the neonatal period. We had a 6-month-old infant with methylmalonyl acidemia who presented with recurrent vomiting episodes since 3 months of age, failure to thrive and developmental delay. The laboratory findings showed hyperammoninemia and ketotic metabolic acidosis. Plasma amino acid analysis showed nonspecific finding. Urine organic acid ananysis by gas chromatography and mass spectrometry detected large amount of methylmalonic acid excreted in the urine. We restrained the supply of protein in the amount of 1~1.5 g/kg of body weight a day using leucine, isoleucine and valine-r-estrained milk and administered vitamine $B_{12}$, in the amount of 1mg per day. During the follow-up in the outpatient clinic, He could control his head and showed increased muscle strength.

• Journal of Music and Human Behavior
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• v.5 no.2
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• pp.93-102
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• 2008

In Jungian theory the developmental stages of human life are symbolized as a circle that represents the wholeness, and the open ended process towards the wholeness is called Individuation. In the belief that every human being has his or her own "Music Child" that represents one of the creative, genuine, healthy cores of the self, we are all musical beings, and each individual has his or her own relationship to music. Musical individuation therefore refers an open-ended process towards the wholeness in music. Being a Nordoff-Robbins Music Therapist, who values the therapeutic essence of innate creativity and uses improvisational music to maximize it, helped me realize that not only the client but also the therapist has to reach his or her own musical self, Music Child, in order to facilitate any change or growth through music. This realization led me to start a journey towards my own musical individuation. Hence, this essay is a very personal document illustrating my ongoing journey towards musical individuation that will allow me to become more whole and genuine in music.

• The Journal of Korean Obstetrics and Gynecology
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• v.20 no.4
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• pp.1-23
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• 2007

Purpose: These experiments were undertaken to evaluate the effect of Onpoeum on ovarian functions and differential gone expressions related with cell viabilities caspase-3, MAPK and MPG in female mice. Methods: We administered the Onpoeum to 6-week-old female ICR mice for 4, 8, or 12 days. With different concentration of Onpoeum, the female mice were injected PMSG and hCG for ovarian hyperstimulation. The mice divided into 3 different groups for each experiment. We chose the Caspase-3 for cell apoptosis, MAPK and MPG genes for cell viability and DNA repair. Results: In case of 4, 8, 12 day of Onpoeum, we were examined the mean number of total ovulated oocytes and the number of morphologically normal oocytes. We were also examined the embryonic developmental competence in vitro. In audition we were examined the differential expression of cell apoptosis, viability and DNA repair related genes, Caspase-3, MAPK and MPG according to concentration and duration of Onpoeum. From these results showed that the administration of Onpoeum played a role of prevention of cell apoptosis and DNA damages and also increased cell proliferation resulted in ovarian functions. Conclusion: It is suggested that the medication of Onpoeum may have beneficial effect on reproductive functions of female mice via prevention of cell apoptosis and DNA damaging and promotion of cell proliferation.

• Asian-Australasian Journal of Animal Sciences
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• v.21 no.3
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• pp.358-363
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• 2008

The intracytoplasmic sperm injection (ICSI) procedure has recently been utilized to produce transgenic animals and may serve as an alternative to the conventional pronuclear microinjection in species such as pigs whose ooplasm is opaque and pronuclei are often invisible. In this study, the effects of sperm membrane disruption and electrical activation of oocytes on in vitro development and expression of transgene green fluorescent protein (GFP) in ICSI embryos were tested to refine this recently developed procedure. Prior to ICSI, sperm heads were treated with Triton X-100+NaCl or Triton X-100+NaCl+NaOH, to disrupt membrane to be permeable to exogenous DNA, and incubated with linearized pEGFP-N1 vector. To induce activation of oocytes, a single DC pulse of 1.3 kV/cm was applied to oocytes for $30{\mu}sec$. After ICSI was performed with the aid of a micromanipulator, in vitro development of embryos and GFP expression were monitored. The chemical treatment to disrupt sperm membrane did not affect the developmental competence of embryos. 40 to 60% of oocytes were cleaved after injection of sperm heads with disrupted membrane, whereas 48.6% (34/70) were cleaved without chemical treatment. Regardless of electrical stimulation to induce activation, oocytes were cleaved after ICSI, reflecting that, despite sperm membrane disruption, the perinuclear soluble sperm factor known to mediate oocyte activation remained intact. After development to the 4-cell stage, 11.8 (2/17, Triton X-100+NaCl+NaOH) to 58.8% (10/17, Triton X-100+NaCl) of embryos expressed GFP. The expression of GFP beyond the stage of embryonic genome activation (4-cell stage in the pig) indicates that the exogenous DNA might have been integrated into the porcine genome. When sperm heads were co-incubated with exogenous DNA following the treatment of Triton X-100+NaCl, GFP expression was observed in high percentage (58.8%) of embryos, suggesting that transgenic pigs may efficiently be produced using ICSI.

• Clinical and Experimental Pediatrics
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• v.45 no.4
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• pp.540-544
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• 2002

Rett syndrome is an X-linked dominant, progressive neurodevelopmental disorder, with a prevalence estimated to be one in 10,000-15,000 girls, which is thought to be the second most common genetic causes of mental retardation in females after Down syndrome. Patients with classic Rett syndrome show an apparently normal neonatal period, followed by developmental regression and deceleration of head growth, accompanied by gradual loss of speech and purposeful hand use, and development of microcephaly, seizures, autism, ataxia, intermittent hyperventilation and stereotypic hand movements. After regression between infancy and the fifth year of life, the clinical course stabilizes and patients usually survive into adulthood. It was recently discovered that Rett syndrome is caused by mutations in the methyl-CpG binding protein 2(MECP2) gene. Diagnosis of Rett syndrome is clinically difficult before three years of age, especially in atypical cases, but molecular analysis of the MECP2 gene could assist correct diagnosis in some patients. Recently, we diagnosed a case of Rett syndrome in a two year-old girl by mutational analysis of the MECP2 gene and want to report this case with brief review of literature.