• Journal of Genetic Medicine
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• v.2 no.1
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• pp.35-39
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• 1998

Duchenne/Becker muscular dystrophy are the major neuromuscular disorders with X-linked recessive inheritance. Preimplantation diagnosis of sex determination has been generally used to avoid male pregnancies with these diseases. However, in order to determine if the embryo is normal, carrier or affected regardless of the sex, there is a need for a combined analysis of specific exon on dystrophin gene as well as sex determination of embryo using the same biopsied blastomere. If the exon deletion is not determinable, further diagnosis of carrier or patient can be performed by haplotype analysis. In this study, we applied the primer extension preamplification (PEP) method, which amplifies the whole genome, in 40 cases of single amniocyte and 40 cases of chorionic villus cell. We analysed haplotypes using two (CA)n dinucleotide polymorphic markers located at the end of 5' and 3' region of the dystrophin gene. Exon 46 of dystrophin gene and DYZ3 on chromosome Y were chosen as a target sequence for coamplification PCR. Upon optimizing the conditions, the amplification rates were 91.25% (73/80) for haplotypes (92.5% in amniocyte, 90% in chorionic villus cell) and 88.75% (71/80) for coamplification (85% in amniocyte, 92.5% in chorionic villus cell). The result of the study indicates that haplotypes analysis and coamplification of dystrophin and Y-specific gene using PEP can be applied to prenatal and preimplantation diagnosis in Duchenne/Becker muscular dystrophy making it possible to determine if the fetus is a carrier or an affected one.

• Clinical and Experimental Pediatrics
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• v.53 no.10
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• pp.863-871
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• 2010

The prevalence of pediatric obstructive sleep apnea syndrome (OSAS) is approximately 3% in children. Adenotonsillar hypertrophy is the most common cause of OSAS in children, and obesity, hypotonic neuromuscular diseases, and craniofacial anomalies are other major risk factors. Snoring is the most common presenting complaint in children with OSAS, but the clinical presentation varies according to age. Agitated sleep with frequent postural changes, excessive sweating, or abnormal sleep positions such as hyperextension of neck or abnormal prone position may suggest a sleep-disordered breathing. Night terror, sleepwalking, and enuresis are frequently associated, during slow-wave sleep, with sleep-disordered breathing. Excessive daytime sleepiness becomes apparent in older children, whereas hyperactivity or inattention is usually predominant in younger children. Morning headache and poor appetite may also be present. As the cortical arousal threshold is higher in children, arousals are not easily developed and their sleep architectures are usually more conserved than those of adults. Untreated OSAS in children may result in various problems such as cognitive deficits, attention deficit/hyperactivity disorder, poor academic achievement, and emotional instability. Mild pulmonary hypertension is not uncommon. Rarely, cardiovascular complications such as cor pulmonale, heart failure, and systemic hypertension may develop in untreated cases. Failure to thrive and delayed development are serious problems in younger children with OSAS. Diagnosis of pediatric OSAS should be based on snoring, relevant history of sleep disruption, findings of any narrow or collapsible portions of upper airway, and confirmed by polysomnography. Early diagnosis of pediatric OSAS is critical to prevent complications with appropriate interventions.

• The Journal of Pediatrics of Korean Medicine
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• v.25 no.2
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• pp.55-72
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• 2011

Objectives: The purpose of this study is to investigate clinical features of children and adolescents patients admitted to the oriental medical hospital. Methods: The study composed of 1284 inpatients aging from 0 to 19 who had been admitted in 4 oriental medical hospitals located in Daejeon and Chungcheong. Results: 1. In this study, 688 boys and 715 girls were examined, giving the ratio of 0.96:1. Average age of the children and adolescents was 11.5, and the number of inpatients has increased as getting older. 2. The percentage of children and adolescents inpatients has increased every year : 9.1% in 2005, 13.0% in 2006, 13.8% in 2007, 16.3% in 2008, 18.0% in 2009, with 22.2% in 2010, 7.8% until May 2011. The month scored the highest admittance was December and the lowest was March. 3. In systemic division, the musculoskeletal system was the most common, followed by neuromuscular system, respiratory system, digestive system, psychological system, and nervous system. 4. Most patients have admitted in acupuncture & moxibustion department, followed by oriental pediatrics, oriental rehabilitation medicine. 5. In Pediatrics, 196 boys and 166 girls were admitted. The age distribution showed that 6.4% were in infancy, 43.6% in preschool period, 30.1% in prepuberal period, 18.8% in early puberty and 1.1% in late puberty. The percentage of pediatrics inpatients has increased every year. Conclusions: More data of patients should be collated for further study. More detailed study with different kinds of diseases are expected based on this study.

• Clinical and Experimental Pediatrics
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• v.45 no.11
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• pp.1417-1421
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• 2002

Scoliosis describes a lateral curvature of the spine and is often associated with cosmetic and functional impairments due to severe deformity of the spine. The incidence of adolescent scoliosis is 2-4% of children between 10 and 16 years of age. Eighty five percent of them are idiopathic, in which the most common type of scoliosis is right side-bending. In addition, it is classified into congenital, and secondary scoliosis such as neuromuscular disease and neurofibromatosis. Congenital scoliosis is associated with abnormalities of urinary system(20%), congenital heart diseases(15%), and other abnormalities(10%) such as syringomyelia. We experienced a case of scoliosis by a foreign body(a pencil) in the colon which has never been reported up to date. A brief review of the literature was made.

• PNF and Movement
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• v.17 no.1
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• pp.41-46
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• 2019

Purpose: Continuous use of a smartphone increases the angle of forward bending of the user's cervical vertebrae, causing pain in the shoulders and back, including the thorax, lumbar region, and vertebrae. Although there are many studies on changes in the cervical spine due to smartphone usage, the changes in the shoulders, thoracolumbar spine, and pelvic have rarely been compared. The purpose of this study is to investigate the change in the spinal segments, shoulders, and pelvic when using a smartphone with both hands while in the standing position. Methods: This study was conducted on 35 adults in their twenties. The selection criteria for the subjects were limited to those in a similar age group, thus excluding posture differences according to age, and to those who did not have specific diseases or pain in the spinal and musculoskeletal system for 12 months prior to the study. In this study, we used a 3D spinal diagnostic imaging system (Back Mapper, Frickenhausen) to compare the changing conditions in each vertebral segment before and during smartphone usage with both hands while in the standing position. Posture differences according to smartphone usage were compared using the paired t-test for the motion of each spinal segment. Results: This study showed that the thoracic and lumbar angle increased posteriorly during smartphone usage (p<0.05). In addition, the anterior rotation angle of the shoulder bone significantly increased, but no significant difference occurred in the pelvic region. Conclusion: Based on the results of this study, smartphone usage with both hands while in the standing position showed that the spine, as a whole, forms a kyphotic curve. Therefore, we propose to present a postural guideline for correct smartphone usage, considering the change in each vertebral segment.

• PNF and Movement
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• v.12 no.2
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• pp.89-96
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• 2014

Purpose: The purpose of this study was to examine the influence of foot angles on plantar pressure and the center of pressure (COP) trajectory length during level walking. Methods: The study subjects were 30 female university students without orthopedic diseases in the foot. The foot angle was divided into three forms (out-toeing, normal, in-toeing). The subjects practiced each type of gait, and then performed each of level walking, three times, and their averages were calculated. A plantar pressure measurement instrument was used, and the maximum force was obtained by dividing the foot into nine regions covering the anterior medial-lateral, middle medial-lateral, and posterior medial-lateral. The COP trajectory length was statistically processed by obtaining medial-lateral, anterior-posterior, and entire travel distance. Results: During normal walking, the maximum force was significantly higher in the anterior lateral than in the other areas, and the COP trajectory length was significantly shorter in the front-back and entire travel distances (p<0.05). During stair climbing. Conclusion: Walking at abnormal foot angles does not cause appreciable problems in the short term as pressure is concentrated on a specific plantar part. However, it becomes the cause of deformed foot structures and can result in musculoskeletal disabilities in the long term. Therefore, a kinesiatrics-based intervention is required to maintain normal foot angles.

• PNF and Movement
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• v.20 no.3
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• pp.341-349
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• 2022

Purpose: The purpose of this study is to compare the muscle activity of the hip abductors and the ratio between the hip abductor muscle group according to the range of hip abduction during the clam exercise. Methods: This study was conducted on 18 healthy men in their aged 20 to 29 who had not been diagnosed with spine-related diseases. The subjects performed a clam exercise without rotation of the pelvis in a state of 60° hip flexion and 90° knee joint flexion in the side-lying position. Using Myomotion equipment and EMG, the muscle activity of the hip abductor muscles and the activity ratio between the hip abductor muscle group were measured during the clam exercise by dividing the range into initial, mid-range, and terminal sections. Repeated measures analysis of variants was employed to compare the activity and use of hip abductor muscles according to range of motion during the clam exercise. Results: Gluteus medius muscle activation was significantly increased in the comparison of muscle activity in the initial, mid-range, and terminal sections of hip abduction. Tensor fasciae latae muscle activation was significantly increased in the comparison of muscle activity in all range of motion sections as well. The gluteus medius-tensor fasciae latae muscle activation ratio was significantly increased in the terminal section compared to the initial section. Conclusion: The gluteus medius and tensor fasciae latae had higher muscle activities as they approached the terminal section during the clam exercise, and the hip abduction activity ratio of the gluteus medius and tensor fasciae latae was higher as the range of motion approached the terminal section.

• Journal of Preventive Medicine and Public Health
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• v.12 no.1
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• pp.61-69
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• 1979

In Korea, the regional differences of medical facilities and man-powers are very serious recently. in order to solve rural medical problem, the comprehensive health care service is required earnestly in rural area. The present study was performed to provide the material for rural medical policy by analyzing the diseases occurring frequently in rural area and assuming the paramedical workers' abilities of medical treatment. The frequently by occurring diseases were classified by investigating. The chief complaints of 4559 subjects through home visiting for last weeks occurred in 1978. The paramedical workers' abilities of medical treatment were investigated by analyzing the clinical charts of patients treated by paramedical workers by systemic health care delivery system from, September 1977 to December 1977. The results obtained are summarized as fellows; 1. The rate of disease suffering recently for 2 weeks was 22.5% in Rural area. 2. The rate of respiratory disease was 36.%, gastrointestinal disease 18%, trauma 8% and neuromuscular disease 7.5%, respectively. 3. The coverage of treatment by health workers was 97.6% in general practitioner, 70% in community health practitioner and 42.1% in community health aid, respectively.

• Sleep Medicine and Psychophysiology
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• v.4 no.2
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• pp.129-139
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• 1997

The data collected to date indicate that sleep-related breathing disorders, including sleep-disordered breathing(sleep apnea) and underlying respiratory system diseases, are one of the important risk factors for cardiovascular dysfunction. Sleep-disordered breathing(sleep apnea) is now recognized as one of the leading causes of systemic hypertension, cardiac arrhythmias, coronary heart disease, pulmonary hypertension, right heart failure, and stroke. Sleep may exert a profound effect on breathing in patients with underlying respiratory system disease including bronchopumonary diseases, chest wall abnormalities, central alveolar hypoventilation syndromes or respiratory neuromuscular disorders. Chronic hypoxia and hypercapnia in these patients may accelerate the development of long term cardiovascular complications such as cardiac arrhythmias, pulmonary hypertension, and right heart failure(cor pulmonale). Several recent studies reported that sleep-related breathing disorders are associated with long-term cardiovascular morbidity and mortality. Careful assessment of respiratory and cardiovascular function in these patients is critical. Aggressive and highly effective treatment of sleep-related breathing disorders using tracheostomy, mechanical ventilation, nasal continuous positive airway pressure therapy(nCPAP), intercurrent oxygen therapy or other interventions can reduce the prevalence of cardiovascular dysfunction and the long-term mortality.

• Tuberculosis and Respiratory Diseases
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• v.42 no.5
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• pp.723-730
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• 1995

Background: Noninvasive ventilation has been used extensively for the treatment of patients with neuromuscular weakness or restrictive chest wall disorders complicated by hypoventilatory respiratory failure. Recently, noninvasive positive pressure ventilation has been used in patients with alveolar hypoventilation, chronic obstructive pulmonary disease(COPD), and adult respiratory distress syndrome. Sanders and Kern reported treatment of obstructive sleep apnea with a modification of the standard nasal CPAP device to deliver seperate inspiratory positive airway pressure(IPAP) and expiratory positive airway pressure(EPAP). Bi-level positive airway pressure(BiPAP) unlike nasal CPAP, the unit delivers a different pressure during inspiration from that during expiration. The device is similar to the positive pressure ventilator or pressure support ventilation. Method and purpose: Bi-level positive airway pressure(BiPAP) system(Respironics, USA) was applied to seven patients with acute respiratory failure and three patients on conventional mechanical ventilation. Results: 1) Two of three patients after extubation were successfully achieved weaning from conventional mechanical ventilation by the use of BiPAP ventilation with nasal mask. Five of seven patients with acute respiratory failure successfully recovered without use of conventional mechanical ventilation. 2) $PaO_2$ 1hour after BiPAP ventilation in acute respiratory failure patients significantly improved more than baseline values(p<0.01). $PaCO_2$ 1hour after BiPAP ventilation in acute respiratory failure patients did not change significantly more than baseline values. Conclusion: Nasal mask BiPAP ventilation can be one of the possible alternatives of conventional mechanical ventilation in acute respiratory failure and supportive method for weaning from mechanical ventilation.