• Clinical and Experimental Pediatrics
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• v.51 no.11
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• pp.1236-1240
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• 2008

Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with behavioral and learning problems to a lethal disease characterized by multiple malformations. Here, we describe a newborn male with ambiguous genitalia who was diagnosed to have type II SLOS during the neonatal period. A clinical examination revealed low levels of unconjugated estriol in the maternal serum, and a variety of fetal ultrasound anomalies, including prenatal growth retardation. After birth, the infant was diagnosed to have congenital heart disease (Tetralogy of Fallot with severe pulmonary artery stenosis), cleft lip and palate, micrognathia, postaxial polydactyly, ambiguous genitalia, and cataracts. Clinical investigation revealed extremely low plasma cholesterol levels and the presence of mutation (homozygote of p.Arg352Gln) in the DHCR7 gene. The patient underwent palliative heart surgery (to widen the pulmonary artery) and received intravenous lipid supplementation. Cholesterol levels increased slightly, but not to normal values. The patient died from cardiopulmonary failure and sepsis 72 days after birth. This report provides the first description of a Korean patient with SLOS confirmed by verification of DHCR7 gene mutation and illustrates the need for early recognition and appropriate diagnosis of this disease.

• Clinical and Experimental Pediatrics
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• v.48 no.9
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• pp.991-997
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• 2005

Purpose : Cow's milk protein-induced enterocolitis(CMPIE) is a symptom complex of vomiting and/or diarrhea caused by delayed hypersensitivity and may result in serious complications. This study was undertaken to identify high risk factors to facilitate the early recognition of CMPIE. Methods : We reviewed the data of 101 patients, aged 15 to 45 days, admitted due to vomiting and/or diarrhea between 2003 and 2004. After excluding 13 patients absolutely breast-fed and 2 patients transferred from other hospitals with the impression of CMPIE, the 86 study subjects were divided into three groups based on the underlying etiologies; CMPIE, infectious and non-infectious group. Results : CMPIE was diagnosed in 11 patients(12.8%). On admission, failure to gain weight(P=0.003), hypoalbuminemia(P=0.003), peripheral leukocytosis(P=0.015), and metabolic acidosis(P=0.014) were more significant in the CMPIE group than in the others. Multiple logistic regression analysis showed that the independent predictors of high risks for CMPIE were failure to gain weight <10 g/day(OR, 10.25[95% CI, 1.62-65.06]) and serum hypoalbuminemia <3.5 g/dL(OR, 9.18[95% CI, 1.69-49.74]). Cow's milk challenges were performed in the 11 CMPIE patients; vomiting(81.8%), abnormal stool test(80.0%), peripheral leukocyte count and absolute neutrophil count(ANC) increase(100.0%) (P<0.05), and enteropathy(100.0%). Conclusion : CMPIE is not a rare clinical disease in early infancy. The high risk factors of CMPIE were identified as follow : failure to gain weight below 10 g/day, hypoalbuminemia on admission and a rapid decrease during admission. Cow's milk challenge test with endoscopic duodenal biopsy was helpful to confirm CMPIE.

• Clinical and Experimental Pediatrics
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• v.51 no.6
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• pp.655-659
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• 2008

Intestinal pseudo-obstruction (IPO) is a rare and poorly understood manifestation of systemic lupus erythematosus (SLE), especially in children. The characteristic clinical feature of IPO is obstruction without an identifiable obstructive lesion. The authors a 13-year-old girl whose first symptom of SLE was IPO. The patient presented with a 3-day history of nausea, bilious vomiting, abdominal distention, and no bowel movement. Simple abdominal radiographs revealed mild dilatation with partial air-fluid levels in the small intestine. Abdominal CT and methylcellulose small bowel studies showed massive ascites, engorgement of the small mesenteric vessels, pleural effusion, and diffuse bowel wall thickening of the gastric antrum, duodenum. and jejunum. The delayed passage of contrast for 15 days after the methylcellulose small bowel studies was suggestive of decreased bowel motility. Laboratory findings were positive for ANA, anti-double-stranded DNA, anti-Smith and lymphopenia. After 10-day treatment with high-dose corticosteroids, the symptoms improved. IPO associated with SLE should be considered in the differential diagnosis for patients presenting with symptoms of intestinal obstruction. Early recognition of IPO in SLE and appropriate therapy are important for prevention of complications and unnecessary surgery. This case raises awareness among pediatricians that although rare, IPO can be the presenting symptom of SLE in children.

• Clinical and Experimental Pediatrics
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• v.46 no.6
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• pp.591-596
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• 2003

Purpose : Kawasaki disease(KD) is rare in infants <3 months of age. In this younger group, the diagnosis may be delayed due to lack of most of the clinical criteria, resulting in a high risk of cardiac complications. We examined clinical characteristics in these patients for early recognition and treatment. Methods : We conducted a retrospective study on the infants with KD aged three months or younger treated at our hospital from January 1998 to July 2002. Results : Of a total of 291 patients treated during the study period, 11(3.8%) were three months old or younger. Of the 11 patients, 10 had atypical presentations. Infants had fewer of the accepted criteria, and the most common findings were fever(100%) and oral mucosal changes(72.7%). Erythema at the site of BCG inoculation was observed in six of the 11 patients(unknown in the remaining five). This feature proved a definite diagnostic clue in two patients in whom cardiac complications developed in the subacute phase. Cardiac complications were found in six patients(54.5%) : three had coronary dilatation, two had coronary wall irregularity, and one had mitral valve prolapse with regurgitation. Defervescence occurred within $1.1{\pm}0.3day$ in 10 of the 11 patients treated with intravenous immunoglobulin(IVIG) and one was given a second course of IVIG. Echocardiographic abnormality persisted in only one patient with mitral regurgitation at the 6-month follow-up. Conclusion : Most patients with KD younger than three months of age have atypical presentations and a high complication rate. For early diagnosis, erythema at the BCG inoculation site, if present, could be used as a valid diagnostic clue to atypical KD in this age group.

• Clinical and Experimental Pediatrics
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• v.50 no.7
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• pp.606-612
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• 2007

Since the introduction of chemotherapy for the treatment of childhood leukemia more than 50 years ago, the results of childhood cancer have improved dramatically. The 5-year survival rate of disease, many of which were uniformly fatal in the prechemotherapy era, reached to more than 75%. This remarkable improvement in survival is a direct result of the incorporation of chemotherapeutics into treatment regimens that previously relied only on surgery or radiotherapy for the primary tumor. The multimodality approach, which integrates surgery and radiotherapy to control local disease with chemotherapy to eradicate systemic or metastatic disease, has become the standard approach to treating most childhood cancers. The overall improvement in outcomes in childhood solid tumors has been related to the development of multidisplinary cooperative studies that has permitted the development of well-designed tumor treatment protocols characterized by uniform staging criteria, sharing informations in pathologic classification, uniform methods for tumor markers, oncogenes, and other biologic and genetic factors. Important advances in the biologic study of cancer and its genetic basis led to a number of observations that impact directly on the management of childhood solid tumors. Identification of specific genes, oncogenes, tumor markers, and other biologic and pathologic factors plays an important role in both staging and clarifying the risk categorization of individual patients. Treatment of the patient is influenced by the recognition of specific risk factors. This knowledge has resulted in a change in the approach to care based not only on staging criteria, but also on risk-based management. This concept uses various risk factors of outcomes. Risk-based management allows for each patient to maximize survival, minimize long-term morbidity and improve the quality of life, especially for children's growth and development.

• Clinical and Experimental Pediatrics
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• v.46 no.6
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• pp.566-571
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• 2003

Purpose : Leukoencephalopathy(LE) is one of the most serious complications in children with hematologic malignancies during the course of treatment. Early recognition is important to reduce the impact and sequelae from LE. We therefore investigated the clinical features of LE following central nervous system(CNS) prophylaxis in children with hematologic malignancies and evaluated the significance of regular check-ups of brain MRI. Methods : We retrospectively reviewed children with hematologic malignancies who had CNS prophylaxis including intrathecal(IT) methotrexate(MTX) and/or cranial irradiation at the Department of Pediatrics, Kyungpook National University Hospital from Oct. 1995 to May 2002. Fifteen cases of acute leukemia and one case of lymphoma who experienced LE following CNS prophylaxis were included in the study. Clinical data were analyzed from the medical records and brain MRIs were reviewed by neuroradiologists. Results : The ages ranged from 1 to 13 years(median age=5.2 years), and the male to female ratio was 3 : 1. The time interval from the beginning of chemotherapy to the time of diagnosis of LE ranged from 2 to 17 months. They all had IT MTX two to 15 times and ten underwent cranial irradiation(1,800 rads). At the time of diagnosis, ten of them had neuropsychiatric symptoms including seizures, personality changes, headache, etc. After the change of treatment modality, four cases showed significant improvement on follow-up MRIs, six cases had no significant changes and two had worsening of LE. Four patients died of infection and bone marrow relapse. Conclusion : CNS prophylaxis with IT therapy and cranial irradiation may cause leukoencephalopathy during the course of treatment. As a result, regular brain MRI check-up is recommended for the early detection and reducing the incidence of LE, along with changes in the treatment modality.

• Clinical and Experimental Pediatrics
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• v.50 no.4
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• pp.376-380
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• 2007

Purpose : Febrile seizures occur in childhood associated with a febrile illness not caused by infections of the central nervous system. Provoked seizures are identified with seizures in association with infections that do not usually affect the brain such as gastroenteritis, except criteria for other febrile seizures in this study. We studied seizures provoked by minor extracranial infections, to contrast them with febrile and provoked seizures. Methods : We retrospectively studied one hundred and twenty children with provoked and febrile seizures who visited Chungbuk National University hospital from January, 2000 to December, 2004. Among these children, 36 patients were determined as provoked seizures and 84 patients as febrile seizures. We compared the distribution of minor infections between the patients with provoked seizures and those with febrile seizures, and studied risk factors of subsequent unprovoked seizures after febrile and provoked seizures associated with minor infections. Results : We analyzed the records of 120 children aged from 1 month to 15 years. The common etiologies of minor infections were gastroenteritis and respiratory infections. In the group of febrile seizures, there was a significantly greater proportion of patients with respiratory infections (58.3%) and a lesser proportion of those with gastroenteritis (25.0%). But there was a higher incidence of gastroenteritis (50.0%) in the provoked group. Comparing the distribution of etiologies between the patients with provoked seizures and those with febrile seizures seemed a significant difference. But, there were no difference between the provoked seizures and febrile seizures in the risk for subsequent unprovoked seizures. Conclusion : In conclusion, the leading cause except brain involvement is gastroenteritis in patients with provoked seizures, and respiratory infection in those with febrile seizures. Thus we need prompt recognition of, and medical attention given to, seizures associated with minor infections.

• Clinical and Experimental Pediatrics
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• v.50 no.5
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• pp.436-442
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• 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.

• Clinical and Experimental Pediatrics
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• v.48 no.10
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• pp.1132-1138
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• 2005

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.

• Journal of Korean society of Dental Hygiene
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• v.4 no.1
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• pp.49-64
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• 2004

This study is designed to conduct a questionnaire research into the safety control and the actual condition of radiography by working with dentistry belonging to university hospitals, dental hospitals and dental clinics for three months ranging from August, 2003 to October, 2003. The researcher came to the following conclusions. 1. The research on the current condition of possessed radiational equipment shows that 61.2 percent of the subjects had one intraoral radiation medicine and that 70.1 percent of the subjects had more than one extraoral radiation medicine and that 37.3 percent of the subjects had more than one digital radiation medicine. 2. Most of intraoral radiography (82.1%) was conducted by dental hygienists, and 7.5 percent of intraoral radiography was conducted by nurse aids. On the other hand, most of extraoral radiography (76.6%) was conducted by dental hygienists and digital radiography was conducted by dental hygienists(60.6%), dentists(32.0%) and radiographer(80.0%). 3. The less-than 1-meter-long distance between cone and the radiographer accounted for 44.8 percent. And the more-than 1.6-meter-long distance accounted for no more than 13.4 percent. The exposure time per standard film which was adjusted to each part accounted for 71.6 percent. Fixing the film on the part of healthy patients accounted for 76.1 percent. Fixing the film of elderly patients and children patients by the radiographer accounted for 43.3 percent. 4. The average daily photographing frequency of standard films stood at six to ten pieces(31.3%), and the average weekly photographing frequency of bitewing films stood at less than one piece(47.8%), and the dentistries where bitewing films were not employed accounted for 25.4%. The subjects whose average weekly photographing freqeuncy of occlusal films stood at less than a piece accounted for 59.7 percent. The dentistries whose average weekly photographing frequency of pediatric films stood at one to five pieces accounted for 41.8 percent. In case of panorama & cephalo, one to five pieces on a weekly average accounted for 36.2 percent. The dentistries whose average daily photographing frequency of digital radiation medicine stood at less than 1 piece accounted for 40.0 percent. 5. The research on the use of protective clothes shows that pregnant ·women only accounted for 31.3 percent. In regard to the use of protective clothes in case of the radiographers fixing films, the cases where no protective clothes were employed accounted for 88.1 percent. The reason was said to he attributable to the trouble related to wearing the clothes(54.2%). 6. The survey on the measurement of exposure dose shows that the cases where no measurement was made accounted for 76.1 percent. As far as the measurement methods of exposure dose was concerned, the employment of film badge accounted for 68.8 percent. The subjects turned out to conduct measurement of exposure dose every third month, which accounted for 43.8 percent. The barriers to the measurement of measurement of exposure dose were attributable to the recognition that a little amount of exposure dose need not be measured(29.9%). 7. The survey on the distinction of radiation rooms and clinic rooms reveals that the cases where radiation rooms exclusively existed accounted for 67.2 percent. 43.3 percent of the subjects turned out to have only one protective garment, and 49.3 percent of the subjects proved to conduct a periodical checkup of radiational equipment. The survey on the examination certificates of radiational generators and protective facilities indicates that 80.6 percent of the subjects had the certificates. The research also shows that the subjects with the marks indicating the radiational areas accounted for 70.1 percent. And trustees turned out to handle developing solutions and fixing solutions.