• Clinical and Experimental Pediatrics
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• v.55 no.3
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• pp.107-110
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• 2012

Partial trisomy 3p results from either unbalanced translocation or $de$ $novo$ duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4)(p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

• Biomolecules & Therapeutics
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• v.10 no.4
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• pp.258-267
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• 2002

In this study the general pharmacological profiles of AS6 on the central nervous system, cardiovascular and the other organs were investigated. The dosages given were 0, 250, 500 and 1000 mg/kg and drugs were orally administered. The animals used for this study were mice, rats and guinea pigs. Significant increases (p<0.01) in the charcoal transport capacity were observed at the high dose of 1000 mg/kg and significant increases in retardation of pain threshold were observed in the test using acetic acid in all dosed animals. However, AS6 showed no noticeable effects on general behavior, motor coordination, spontaneous locomotor activity, hexobarbital-induced sleep time, body temperature, analgesic activity in the test using hot plate method and anticonvulsant activity. Furthermore no noticeable effects were observed in cardiovascular functions in the isolated rat heart, contraction and relaxation of the smooth muscle in the isolated guinea ileum, gastric secretion and renal function.

• Journal of fish pathology
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• v.31 no.2
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• pp.115-122
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• 2018

The Houttuynia cordata has been utilized for various beneficial purposes in humans mainly because of its potent antioxidant principle quercitrin present in this plant. This study examines the possibility of producing a functional sea food commodity containing active principle quercitrin by feeding H. cordata for a extended period. Spotted sea bass (Lateolabrax maculatus) were fed a diet containing H. cordata at 0.1-1.0% levels for 1 month and tissue concentrations of quercitrin were analyzed in serum, hepatopancreas and muscle. It was observed that quercitrin was found in the ranking order of hepatopancreas>muscle>serum. After a bolus administration of quercitrin (20 mg/kg, oral) to spotted sea bass and Nile tilapia (Oreochromis niloticus), idential rank order was observed after 48 hr. In contrast, the order was liver>serum>muscle in rat and mice, indicating that higher quercitrin distribution occurs to the muscle in fishes compared with in mammals tested. High residue concentration of qeurcitrin in the edible tissue can be an advantageous property in terms of functional food production. High level H. cordata extract inclusion of 1.0% seems to have detrimental effects in spotted sea bass leading to growth retardation and hepatic damage. It was concluded that incorporation of H. cordata extract into diet can be a way of producing healthy foods. However the level of active extract needs fine tuning to avoid toxicity to fishes.

• Journal of the korean academy of Pediatric Dentistry
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• v.37 no.4
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• pp.545-550
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• 2010

Freeman-Sheldon Syndrome (FSS, also known as "Whistling Face Syndrome") is a rare genetic condition which characteristically includes a small "whistling" mouth, a flat mask-like face, club feet, joint contractures usually involving the fingers and hands, and under-development of the cartilage of the nose. Intelligence is usually normal. Most of the features of this syndrome are due to muscle weakness. The patient, 11 years old boy was consulted from pediatrics to pediatric dentistry due to dental management. After clinical & radiographic examinations, severe multiple problems were found. Dental problems were microsomia(whistling mouth) & micrognathia, perioral muscle contracture, restricted mouth opening, poor oral hygiene & care, generalized dental caries, high palatal vault, severe malocclusion & crowding. And Orthopedic problems, ophthalmic & respiratory, anesthetic problems were found. Then He also had psychiatric problem, hospital(dental) phobia due to previous medical history(frequent hospitalization). And he had genital problem, cryptochidism, too. Due to these intricate problems, he suffered with feeding, swallowing difficulties and showed growth retardation. For enhancing patient's oral health, pediatric dentist, orthodontist, oral surgeon, pediatrician, psychiatrist, orthopedist, they all agree with early, cautious intervention and treatment. So, he has been treated by multidisciplinary care, now he is recovering general health maintenance.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.2 no.1
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• pp.39-44
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• 2006

Cerebral palsy(CP) is one of the most common motor disease, due to brain injury during fetal and neonatal development which results in neuromotor paralysis and associated neuromuscular symptoms. Features of CP include motor disability due to the lack of muscle control, often accompanied by sensory disorders, mental retardation, speech disorders, hearing loss, epilepsy, behavior disorders, etc. There are increasing chances of treatment of dental patients with cerebral palsy, as the occurrence of CP is increasing with the decrease in infant mortality and an increase in immature birth and premature birth and also, there is a trend to pursue of higher quality of life. Reports on the relationship between CP and maxillofacial deformity are uncommon, but it is well known that the unbalance and discontrol of the facial muscles, lip, tongue and the jaws leads to malocclusion and temporomandibular joint disorders, and statistics show that class 2 relationship of the jaws and open bite is frequently reported. However, it is difficult to perform maxillofacial deformity treatment, which consists of orthodontic treatment, maxillofacial surgery and muscle adaptation training, due to difficulties in communication and problems of muscle adaptation caused by difficulties in motor control which leads to a high recurrence rate. This case report is to trearment of maxillofacial deformity in CP patient. A 26 year old female patient came to the department with the chief complaint of prognathism of the mandible and facial asymmetry. According to the past medical history, she was diagnosed as cerebral palsy 1 week after birth, classified as GMFC, classII accompanied with left side torticollis. The patient's intelligence was moderate, and there were no serious problems in communication. For two years time, the patient underwent lingual frenectomy, pre-operation orthodontic treatment and then bimaxillary orthognathic surgery to treat mandibular prognathism and facial asymmetry followed by rehabilitatory exercise of facial muscle. After 6 months of follow up, there was a good result. This is to report to the typical signs and symptoms of DFD in CP patient and the limitation of the usual method of the treatment of DFD in CP patient with literature review.

• Journal of Korean Physical Therapy Science
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• v.15 no.2
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• pp.79-86
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• 2008

Background: The purpose of this study was to present a practical method of medical treatment to improve the balance and motor ability of the mentally retarded child with a single mentally retarded child-subject. Methods: The subject of the study was a 39-month-old mentally retarded female. This study included a 2-week basic period and a 13-week treatment period. The treatment method was based on the Bobath Approach. Gross motor function measurement (GMFM) was used to examine changes in motor ability, and the Pediatric Balance Scale (PBS) was used to measure changes in balance ability. The curative program was composed of normalization of muscle tone, strengthening of leg endurance and muscular strength, the improvement of trunk alignment, and the increase of balance. Visual rate of change was used to examine the results. Results: As a result of this study, balance ability increased on the Pediatric Balance Scale (PBS) by 24 points, and motor function increased in terms of Gross Motor Function Measurement (GMFM) by 6.9% (18 points). Standing increased by 41% (16 points), and walking, running, and jumping increased by 31.9% (23 points) compared to thebasic period. Therefore, the Bobath Approach appears to be an appropriate method to improve balance and motor ability in mentally retarded children. Conclusion: It is surmised that aggressive intervention by physical therapists and occupational therapists, and a follow-up study, are required for the growth of motor ability in mentally retarded children.

• Journal of The Korean Dental Society of Anesthesiology
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• v.7 no.1
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• pp.18-21
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• 2007

Pelizaeus-Merzbacher disease (PMD) can be defined as an X-linked recessive leukodystrophy that is caused by a mutation in the proteolipid protein gene on chromosome Xq22. PMD is one of a group of progressive, degenerative disorders of the cerebral white matter known as the leukodystrophies. Due to the progressive nature of the disorders and their devastating effects on the central nervous system, these children frequently require anesthesia during imaging procedures such as MRI or during various surgical procedures. Anesthetic concerns in theses cases include high prevalence of seizure disorders, gastroesophageal reflux with the risk of aspiration, airway complications related to poor pharyngeal muscle control and copious oral secretions, and mental retardation. We report a successful anesthetic management in a patient with PMD for dental procedures.

• Tuberculosis and Respiratory Diseases
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• v.48 no.5
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• pp.788-793
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• 2000

Tuberous sclerosis is a rare hereditary anomaly of variable penetrance characterized by mental retardation, epilepsy, and adenoma sebaceum. Pulmonary involvement is uncommon, but, when involved by tuberous sclerosis, it shows characteristic reticulonodular infiltration and cystic changes. Lymphangioleiomyomatosis is a rare disease of unknown cause that affects women of reproductive age. It is characterized by progressive proliferation of smooth muscle in the lung. We experienced one case of pulmonary lymphangioleiomyomatosis associated with tuberous sclerosis in a 26-year-old female patient. This case is reported with a brief review of the literature.

• Childhood Kidney Diseases
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• v.24 no.2
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• pp.115-119
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• 2020

Distal renal tubular acidosis (dRTA) is a rare renal tubular disorder characterized by normal anion gap metabolic acidosis, hypokalemia, and high urine pH. It can be inherited or acquired. In untreated pediatric patients with dRTA, rickets and growth retardation are common. We report the case of a 12-year-old Lao girl who presented with typical clinical features of dRTA with severe bone deformities that developed after a bed-ridden state due to a bicycle accident at the age of 8 years. Initial laboratory tests revealed metabolic acidosis with a normal anion gap, hypokalemia, and alkali urine. Renal ultrasonography revealed bilateral medullary nephrocalcinosis. Whole exome sequencing revealed no pathogenic mutations. After treatment with oral alkali, potassium, and vitamin D, she could walk and run. Later, she underwent corrective orthopedic surgeries for bony deformities. Thus, in pediatric dRTA patients, despite severe symptoms remaining untreated, accurate diagnosis and proper management can improve quality of life.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.26 no.4
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• pp.296-304
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• 1993

The effects of pretreatment on the lipid oxidation of korean geoduck muscle during storage at $-20^{\circ}C$ were investigated. In the lipid compositions of geoduck muscle, neutral, glycolipid, and phospholipid contents were $46.1\%,\;4.5\%\;and\;49.5\%$, respectively. And the content of phospholipid decreased to $39.9\%$ by blanching. In the fatty acids composition, $C_{16:0},\;C_{20:5}\;and\;C_{22:6}$ fatty acids were major portions and their contents showed, respectively, $10\%$ of total fatty acids amount or more. $C_{18:0},\;C_{16:1},\;C_{18:1},\;C_{14:0}\;and\;C_{20:1}$ fatty acids were also important fatty acids and their amounts were so much as $5\%$ or more. The polyunsaturated fatty acid contents were relatively high as $39.25\%{\sim}42.60\%$. POV in RM and VM samples increased gradually and showed 3.72meq/kg, or 3.00meq/kg after 90 days storage, respectively. However, in case of samples pretreated by blanching, there was slightly increase of POV throughout storage. From the results above, it was suggested that the pretreatment of blanching was effective in retardation of lipid oxidation for the longterm storage.