• Title/Summary/Keyword: 소아정신장애

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Clinical Characteristics and Genetic Analysis of Prader-Willi Syndrome (Prader-Willi 증후군의 임상 양상 및 유전학적 진단에 관한 고찰)

  • Lee, Ji Eun;Moon, Kwang Bin;Hwang, Jong Hee;Kwon, Eun Kyung;Kim, Sun Hee;Kim, Jong Won;Jin, Dong Kyu
    • Clinical and Experimental Pediatrics
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    • v.45 no.9
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    • pp.1126-1133
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    • 2002
  • Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from September 1997 to September 2001. We performed cytogenetic and molecular genetic techniques using high resolution GTG banding techniques, fluorescent in situ hybridization and methylation-specific PCR for CpG island of SNRPN gene region. Results : The average birth weight of PWS patients was $2.67{\pm}0.47kg$ and median age at diagnosis was 1.3 years. The average height and weight of PWS patients under one year at diagnostic time were located in a 3-10 percentile relatively, and a rapid weight gain was seen between two and six years. Feeding problems in infancy and neonatal hypotonia were the two most consistently positive major criteria in over 95% of the patients. In 18 of the 24 cases(75%), deletion of chromosome 15q11-q13 was demonstrated and one case among 18 had an unbalanced 14;15 translocation. In four cases without any cytogenetic abnormality, it may be considered as maternal uniparental disomy and the rest showed another findings. Conclusion : We suggest diagnostic testing for PWS in all infants/neonates with unexplained feeding problems and hypotonia. It is necessary for clinically suspicious patients to undergo an early genetic test. As the genetic basis of PWS was heterogenous and complex, further study is required.

A multidisciplinary approach for the treatment of child abuse in Korea (병원 기반 학대아동보호팀의 20년간의 활동 경험)

  • Song, Bong Kyu;Kim, Do Kyun;Park, Hye Young;Hwang, Jun Won;Kwak, Young Ho
    • Clinical and Experimental Pediatrics
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    • v.52 no.11
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    • pp.1207-1215
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    • 2009
  • Purpose:To review and determine the complications in 76 child abuse cases recorded by a multidisciplinary hospital-based child protection team between 1987 and 2007. Methods:We retrospectively reviewed the reports and medical records of child abuse cases maintained by a university hospital-based child protection team. We devised a questionnaire for standardized interviews with the victims' guardians to determine the current physical and mental status of the children; questionnaires were answered by social workers of the child protection team who interviewed the present fosterers of 24 (35.8%) children. Results:Of the 76 children, 6 were infants, 10 were 1-3 years old, were 3-10 years old, and 19 were over 10 years old. Seven children (9.2%) were neglected and 27 (35.5%) and 44 (57.9%) were sexually and physically abused, respectively. In more than half of the cases, the perpetrators were the father or mother of the children. Most children (41 cases, 53.9%) were abused at their homes. The mean follow-up duration from the time of abuse infliction was $54.3{\pm}49.2$ months, and the current mean age of the children was $8.3{\pm}6.4$ years. Moderate and severe developmental delay and physical disability were observed in 6 (25.0%) and 3 (12.5%) cases, respectively. In 13 children (54.2%), the Global Assessment of Functioning Scale (GAF) score was less than 60, which indicates mild mental disability. Conclusion:A hospital-based child protection team may witness the different proportion of abuse types and patterns by conducting a nation-wide survey of child abuse cases.

Analysis of Frequent Disease and Medical Expenses Structure of Patients Admitted in a Vaterans Hospital (일개 보훈병원 입원환자의 상병 및 진료비 구조분석)

  • Kim, Kyoung-Hwan;Lee, Sok-Goo;Kim, Jeong-Yeon
    • Journal of agricultural medicine and community health
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    • v.30 no.1
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    • pp.1-14
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    • 2005
  • Objectives: This study attempts to analyze the length of hospital stay and expenses of frequent disease admitted in a Vaterans Hospital. Methods: Data was collected from January 1, 2001 to December 31, 2003 from the Claim records of 9,640 patients in a Vaterans Hospital. Results: The results were as follows: 1. In age & sex distribution, there was male 70.9%, female 29.1%, and 35.8% of them is 70 age group. Frequency by insurance program was Health insurance 78.1%, Medical aid 14.2%, no insurance 4.1%, others 3.6%. Distribution of each department was internal medicine 28.3%, orthopedic surgery 21.3%, surgery 16.6%, neurosurgey 7.1%, pediatrics 5.9%. Also, in the veterans group, male to female patient ratio was 99.3% male to 0.7% female, them over 70 years old was 51.6%, and them which live in daejeon was 43.5%. 2. In frequency of disease, there was gastroenteritis 4.8%, pneumonia 3.8%, cartaract 3.7%, cerebral infarct 3.2%, hyperplasia of prostate 3.0%. In frequency of korean standard classification of diseases, there was injury and poisoning and certain other consequences of external causes 17.1%, diseases of digestive system 16.1%, diseases of musculoskeletal system and connective tissue 13.9%, diseases of respiratory system 9.4%, diseases of genitourinary system 8.6%. Also, in veterans group, frequency of them was diseases of musculoskeletal system and connective tissue 19.4%, diseases of digestive system 16.8%, injury and poisoning and certain other consequences of external causes 15.7%, diseases of genitourinary system 9.7%, diseases of circuatory system 8.2%. 3. Average length of hospital stay was 29.0 days for total patients, 51.8 days for the veterans group, 15.7 days for the non-veterans one. Average total expenses was 3,669,579 won, the veterans group 7,263,877 won, the non-veterans one 1,560,333 won. The ratio of insurer to insuree was 55.2 : 44.8, the ratio of amount paid by patient in the veterans group 61.7%, in the non-veterans one 33.0%. 4. In items of medical expenses, fee for hospital accommodation was 34.7%, fee for medication 13.2%(injection 7.8%, drug 5.4%), fee for service 48.6%(physical therapy 26.3%, operation 9.7%, laboratory examination 5.2%, radiological examination 3.1%, etc), others 3.4%. In them for the veterans group, fee for physical therapy was 35.3%, fee for hospital accommodation 35.2%, fee for injection 6.2%, fee for operation 5.9%, for the non-veterans one, fee for hospital accommodation 35.7%, fee for operation 16.4%, fee for injection 11.4%, fee for laboratory examination 8.3%. 5. In the comparison of the frequency by Korean standard classification of diseases and distance between the hospital and home, the region under 21.5Km was more frequent in symptoms, signs an abnormal clinical and laboratory findings 56.0%, injury and poisoning and certain other consequences of external causes 55.6%, diseases of the eye and adnexa 52.9%, the one over 21.5Km was more frequent in neoplasms 57.4%, diseases of musculoskeletal system and connective tissue 55.9%, diseases of genitourinary system 53.5%.

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