Purpose : The mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. They are caused by a deficiency of the enzymes involved in the degradation of glycosaminoglycans. Early recognition is important because recombinant enzyme replacement therapy is now available for MPS. We studied the clinical characteristics of 80 MPS children with the object of determining the epidemiological, clinical and radiological features in Korean MPS children. Methods : Diagnosis of MPS was confirmed by skin fibroblast enzyme analysis in 80 patients between February 1995 and December 2004. Charts were retrospectively reviewed for clinical and radiological findings, as well as for intelligence and speech evaluations. Results : Hunter syndrome (MPS type II) was the most prevalent type, appearing in 51/80 cases (64 %), followed by Sanfilippo syndrome (MPS III-18%), Hurler syndrome (MPS I-15%), and Morquio syndrome (MPS IV-4%). The average age at diagnosis was 5.5 years (range 1 to 20), and the male-to-female ratio was 4.7 : 1. Typical radiographic changes were observed in 45/54 cases (83%). Mitral regurgitation was the most common cardiac defect. Moderate to profound mental retardation and hearing loss were present in 14/35 cases (56%) and 33/38 cases (82%), respectively. Four MPS II patients had bone marrow transplantation, with mixed outcomes. Five MPS I patients are currently on enzyme replacement therapy. Conclusion : Our study showed a high proportion of MPS II cases (64%), which may represent population variability. By studying the clinical features of these patients, we hope to alert pediatricians of the warning signs of MPS.
Kim, Young Bin;Song, Jun Ho;Jang, Myoung Wan;Yoo, Hwang Jae;Kim, Cheol Hong;Lee, Hyun Hee
Clinical and Experimental Pediatrics
/
v.48
no.9
/
pp.929-934
/
2005
Purpose : This study describes how often complementary and alternative medical(CAM) therapies, what patterns of CAM therapies utilization, what types of CAM therapies and why CAM therapies are used in children and adolescent with chronic disease. Methods : We interviewed and filled out questionnaires with parents of patients suffering from asthma, atopic dermatitis, congenital myopathy, epilepsy and so on from Mar 2004 to Aug 2004. Results : Two hundred fifty two parents answered questionnaires; 160 cases(63.5 percent) had used CAM therapies. Utilization of CAM therapies according to each chronic disease was as follows : congenital myopathy(100 percent), atopic dermatitis(91.1 percent), asthma(72.5 percent), chronic diarrhea (50.0 percent), epilepsy(17.1 percent) etc. Types of CAM therapy were as follows : dietary supplement (31.1 percent), herb medicine(23.4 percent), massage(14.2 percent), acupuncture(4.6 percent) etc. Sixty four(40.0 percent) case underwent more than two types of CAM therapies simultaneously. One hundred thirty three(83.1 percent) case were asked through non-medical prescription. Ninety nine(61.9 percent) case were recognized positive effect of CAM therapies. Parents' and childrens' ages were influential factors in CAM therapies utilization : the older the parents and the younger the children, the higher the utilization. Conclusion : Although patients receive treatment with western medicine, many of them not only undergo CAM therapies, especially more than two types, but also recognize the positive effects of CAM therapies. As a result, we suggest that it is easy to use of CAM therapies, and the positive effects of CAM therapies are prominent, domestically. Therefore, medical approach and study about the effectiveness and side effects of CAM therapies is necessary to avoid the imprudent use of such therapies.
Lim, Han Hyuk;Jeong, Hee Jeong;Park, Kyung Duk;Kim, Sook Ja
Clinical and Experimental Pediatrics
/
v.48
no.7
/
pp.701-705
/
2005
Purpose : Parents' genetic information plays an important role in their children's genetic expression. Human chromosome has 23-paternal chromosomes and 23-maternal chromosomes. Parental chromosomal translocation can induce clinical problems in their children because of imbalance in genetic information. We intent to analyze the cytogenentic and clinical features about children with maternal balanced translocation between chromosome 15 and 18. Methods : We detected by one family's FISH study of chromosome 15. We have evaluated children born to clinically normal parents about peripheral bood analysis, endocrine, metabolic, radiologic study, electroencephalogram and social & intelligence scale. and We analysis their clinical manifestation by hospital records. Results : Patient's father and elder sister are normal clinically and genetically. Her mother's chromosome show balanced translocation, 46, XX, t(15;18)(p11.2;p11.3). One child has 46, XX, der(18) t(15;18)(p11.2;p11.3), mental retardation, growth retardation, speech & social developmental delay, recurrent infection and mild mitochondria dysfunction. Her young brother has 46, XY, der(15) t(15;18) (p11.2;p11.3), mental retardation, aggressive behavior, obesity and speech developmental delay. Conclusion : In this study we observed the children with developmental delay, dysmorphic facial features, mental retardation, growth retardation associated with growth hormone deficiency and aggressive behavior due to unbalanced translocation between chromosome 15 and 18.
Journal of the Korean Academy of Child and Adolescent Psychiatry
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v.9
no.2
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pp.227-236
/
1998
Objectives:Conduct disorder is one of the most frequent diagnosis in outpatient and inpatient mental health facilities for children and adolescents. This study investigated the clinical characteristics of children and adolescents with conduct disorder. Methods:The study employed a retrospective review of 45 inpatients diagnosed with conduct disorder by DSM-IV criteria at SNUH Child Psychiatric Unit from 1993, March to 1998, September. Results:The results were as follows:1) The sex ratio was 2:1, male dominant. Mean age on admission was $12.8{\pm}2.4$ years old(male:$12.2{\pm}2.3$, female:$14.1{\pm}2.1$). The mean age of male subjects was significantly lower than that of female subjects(p<.05). 2) We classified all subjects according to child- or adolescent-onset type by DSM-Ⅳ. Childhoodonset type was 42.2%, and adolescent-onset, 57.8%. The onset of male subjects were significantly earlier than that of female subjects(p<.05). 3) The most common complaint was 'serious violation of rules'(77.8%) by DSM-Ⅳ dimensions, while the most common single symtom was 'run away from home overnight at least twice while living in parental or parental surrogate home'(48.9%). 4) The comorbid psychopathology of the subjects were frequently described as follows, in order of frequency:substance use(42.2%), ADHD(35.6%), depression(20.0%), tic disorder(11.1%), bipolar disorder(4.4%). 5) On MMPI, both Pd and Ma subscales got the highest scores. The mean of total IQ by KEDIWISC was $100.0{\pm}15.1$. Female subjects' IQ was higher than that of male subjects. 6) Regarding the number of visits to the OPD after discharge, many subjects(33.3%) had visited OPD fewer than four times. Conclusions:In this study, the male to female ratio of adolescent type showed a decreasing trend. An interesting finding was the fact that socio-economic circumstances, as well as the level of education among patients, were higher than those of previous studies. The subjects' problem were also principally self contered and posed no threat to others.
Purpose : The purpose of this study is to find out the changing pattern of drug or foreign body ingestion between 1990s and 2000s in Wonju Christian Hospital, which is located in one of the most rapidly urbanizing cities in Korea. Methods : We retrospectively reviewed the medical records of patients with acute drug intoxication and foreign body ingestion from January 1991 to December 1994 and from January 2001 to December 2004. We performed clinical analysis and compared the results of the 1990s and 2000s. Results : There were 43 cases of acute drug intoxication in the 1990s, and 35 cases in the 2000s. Foreign body ingestion was 47 cases in the 1990s and 22 cases in the 2000s. The ingested foreign bodies were chiefly coins (46.8 percent), Weiqi chips (14.9 percent), plastic toys (6.4 percent) and others (31.9 percent) in the 1990s. In the 2000s, others (58.2 percent) were the most commonly ingested foreign body with mercury batteries (23.8 percent), nails (9 percent), pins (9 percent) following. The most common cause of drug intoxication was medical drugs (37.2 percent) others (23.2 percent), agricultural agents (13.9 percent), carbon monoxide (11.6 percent), rodenticide (9.3 percent), insecticide (9.3 percent) in the 1990s. In the 2000s the most common causes were others (34.3 percent), medical drug (31.4 percent), agriculture agents (20 percent), detergent (11.4 percent), insecticide (2.9 percent) and carbon monoxide (2.9 percent). The highest incidence age group was the 1-3 year old group, both in acute drug intoxication and foreign body ingestion. There were no changes in the incidence age group between the 1990s and the 2000s. Conclusion : There were some significant changes in the cause of acute drug intoxication and foreign body ingestion between the 1990s and 2000s. New education programs for preventing acute drug intoxication and foreign body ingestion are important and necessary.
Ko Myoung Jin;Yang Tae Jin;Kim Young Ju;Chung Woo Yeong
Childhood Kidney Diseases
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v.5
no.1
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pp.1-8
/
2001
Purpose : Clinical manifestations and pathologic findings of thin glumerular basement membrane disease, recognized as a common underlying disease of benign, familaiar and asymptomatic hematuria has not been reported systemically in Korera. We analyzed clinical and pathologic findings of patients who were diagnosed as thin glomerular basement membrane disease Methods : We analyzed clinical and pathologic findings of twenty-six patients who were diagnosed as thin glomerular basement membrane disease by renal biopsy among who complained asymptomatic hematuria from 1990 to 2000. Results : The subjects were aged 9.4${\pm}$3.2 (3.0-15.8) years-old at onset of hematuria, and 11.1${\pm}$2.2 (4.7-16.3) years-old at renal biopsy. Sexual discrepancy was more common in girls (eight boys and eighteen girls). A family history of hematuria was found in 8 patients(30.7$\%$). Major clinical manifestation on admission was microscopic hematuria according to the findings of 3case(11.5$\%$) of gross hematuria, 23cases(88.5$\%$9) of microscopic hematuria, and 1 case(3.8$\%$) of proteinuria. Microscopic hematuria persisted in all cases. Kidney biopsy showed few changes by light microscopy, but IgM, C3 and fibrinogen deposit in mesangium was found by immunofluorescent microscopy in a few cases. Electron microscopic findings have revealed thinning of the glomerular basement membrane varied from 180.9${\pm}$35.8nm. Conclusion : Thin glomerular basement membrane disease might be a common cause of microscopic hematuria of children and family history was revealed in about 30$\%$. Clinical progression was good in majorities.(J. Korean Soc Pediatr Nephrol 5 : 1-8, 2001)
Park, Seung-Kyu;Choi, In-Hwan;Kim, Chul-Min;Kim, Cheon-Tae;Song, Sun-Dae
Tuberculosis and Respiratory Diseases
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v.44
no.2
/
pp.241-250
/
1997
Objective : Although the prevalence of pulmonary tuberculosis has decreased progressively after the national control program for tuberculosis began, nowadays the number of MDRTB is increasing seriously. MDRTB tends to be poor responsive to current antituberculosis regimens. It is mainly due to poor compliance, high rate of side reaction of secondary drugs, and limitation in number of available drugs. The purpose of present study is to evaluate the clinical features of pulmonary tuberculosis patients admitted in one national tuberculosis hospital and to expose the problems pertaining to current remedies, to increase the treatment efficacy for pulmonary tuberculosis including MDRTB in the end. Method : Retrospective analysis of 336 pulmonary tuberculosis patients admitted in National Masan Tuberculosis Hospital was done. Contents of analysis were patients profile, the first diagnosed time and medical institutes, family history, residence, previous treatment history, chief complaints at the time of admission, lesion site on chest X -ray film, combined deseases, side reaction to antibuberculosis drugs, used drugs before admission and the results of drug sensitivity test. Results : The ratio between male and female was 4 : 1. Age showed relatively even distribution from 3rd to 6 th decades. 64.6% of the patients was diagnosed at public health center. Weight loss was the most common complaint at admission. Bilateral lesions on chest X-ray films were 59.8%. 130patients had combined desease, of which DM was the most common(37.7%). 95patients had family history, of which parents were the most common(41.7%). According to the time of first diagnosis, 31 patients were diagnosed before 1980, and after then the number of patients was increased by degrees. Residence overwhelmed in pusan and gyung-nam province. 258 patients got previous treatment history, of which 112 patients(43.4%) had more than 3 times and only 133 patients(51.6%)got regular medication. 97 patients used more than other 3 drugs in addition to INH, EMB, RFP and PZA before admission. 154 patients were informed with the results of drug sensitivity test. of which 77 patients had resistance to more than 5 drugs. Gastrointestinal problem was the most common in side reaction to drugs. Conclusion : In the case of weight loss of unknown cause, tuberculosis should be suspected. In first treatment, sufficient and satisfactory explanation for tuberculosis is necessary and treatment period should not be stict to 6 month-short term therapy. In retreatment, new drugs should not be added to used drugs even though drug sensitivity results show sensitivity to some of them. Proper time for surgical intervention should not be delayed.
Choi, Yoon Jin;Kim, Shin Mi;Sim, Eun Jung;Cho, Do Jun;Kim, Dug Ha;Min, Ki Sik;Yoo, Ki Yang
Clinical and Experimental Pediatrics
/
v.50
no.5
/
pp.436-442
/
2007
Purpose : To promote awareness and efforts by pediatricians to identity and prevent child abuse by investigation of characteristics of victim and types of injury caused by abuse. Methods : A retrospective study was performed with 20 patients who had been diagnosed or suspected as child abuse at Hallym University Hospital from January 1999 to December 2005. The medical records, radiologic documents, and social worker's notes were reviewed to investigate age, sex, visiting time, form of abuse, perpetrator, risk factor, and type of injury. Results : The mean age of the subjects was 2.8 years. Fourteen patients were between 0-1 years old, 2 patients between 1-6 years old, 3 patients between 7-12 years old, and 1 case over 13 years old. The ratio of male to female was 1:1. The majority of these patients (70%) visited via emergency department. Eight five percent of these patients reported with physical abuse, 5% psychological abuse, 5% sexual abuse, and 5% neglect respectively. The suspected perpetrator was the biological father in six cases, the biological mother in three cases, the stepmother in two cases, caregiver in one case, relatives in one case and "unknown" in six cases. Bruise and hematoma (80%) were the most common physical findings. Skull fractures were diagnosed in six cases, long bone fractures in two cases, hemoperitoneum in two cases, subdural hemorrhage in 10 cases, epidural hemorrhages in two cases, subarachnoidal hemorrhages in two cases, and retinal hemorrhages in five cases respectively. Seventeen cases required hospitalization and surgical operations performed were in nine cases. Four patients died and three patients had sequalae such as developmental delay and quadriplegia. Conclusion : Child abuse results in high mortality and morbidity in victims. Therefore early recognition and prevention is very important. Pediatricians should always suspect the possibilities of abuse in cases of fracture, intracranial hemorrhage, abdominal injury, or even any injury to the body. We recommend that the clinical investigation of suspicious children should include a full multidisciplinary social assessment, a skeletal survey and CT or MRI.
Lee, Hyun Ju;Km, Kyung Hye;Park, Hye Jin;Lee, Kye Hyang;Lee, Gyeong Hoon;Choi, Eun Jin;Kim, Jin Kyung;Chung, Hai Lee;Kim, Woo Taek
Clinical and Experimental Pediatrics
/
v.51
no.3
/
pp.329-334
/
2008
Kwashiorkor is a syndrome of severe protein malnutrition, which manifests itself in hypoalbuminemia, diarrhea, dermatitis, and edema. It can be life-threatening due to associated immune deficiency and an increased susceptibility to infections. Kwashiorkor should be treated early with nutritional support and the control of infection. Dilated cardiomyopathy may develop during the treatment and in such cases a poor prognosis is expected. Kwashiorkor has been known as a common disease of poor countries. To date, in fact, there has been no report of kwashiorkor leading to death in technically advanced countries. We here report a fatal case of a baby girl admitted with kwashiorkor. She had been fed only with cereal grain mixed with juice, without any protein supplement, for 2 months. This diet was deficient not because of poverty, but due to the illiteracy of her parents. The patient suffered from diarrhea, whole body edema, hypothermia, and dermatitis. Laboratory findings revealed an immune-deficient state featuring leukopenia and decreased immunoglobulin. Blood and urine cultures revealed Alcaligenes Xylosoxidans growth. The patient was fed frequent small amounts of protein-containing formula and intravenous albumin and micronutrients were administered for nutritional support. She was also treated with intravenous immunoglobulin and antibiotics in order to control infection. Nevertheless, she developed dilated cardiomyopathy and multi-organ failure and died. We review this case in light of the literature.
Kim, Ja Kyoung;Ko, Eun Young;Lee, Yu Jin;Jun, Yong Hun;Kim, Soon Ki
Clinical and Experimental Pediatrics
/
v.46
no.1
/
pp.11-16
/
2003
Purpose : Iron deficiency is still the most common nutrient deficient disorder despite the improvement in general health and nutrition. This study is designed to evaluate the dietary history of infants and young children with iron deficiency anemia(IDA) and the effects of nutritional counseling. Methods : This study was conducted on 120 children from 6 to 36 months of age with IDA. Their parents completed a questionnaire and took counsel for nutrition. IDA was defined as Hb <11.0 g/dL, ferritin <10 ng.mL or transferrin saturation <15%, or Hb increase >1 g/dL after iron preparation. The questionnaire consisted of their feeding patterns, weaning time and kinds of food. Results : In the 120 infants and young children aged from 6 to 36 months, the parents of 82 cases was counseled about nutrition. Fifty six infants among 82 cases have started weaning and the main foods of weaning were rice and/or rice gruel. Nutritional problems in weaning were that some children over one year of age were using a bottle, and parents restricted weaning food at will because of allergic disease or chronic disease. Most parents were satisfied with the nutritional counseling given from a clinical dietitian and showed good compliance. Conclusion : Many infants and young children with IDA were provided with non iron-fortified foods and made an inadequate wean. Most parents were satisfied with the nutritional counseling and showed good compliance. The need of dietary counseling was required for prevention and treatment of iron deficiency anemia because of inadequate weaning.
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