• Journal of the korean academy of Pediatric Dentistry
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• v.30 no.3
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• pp.341-347
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• 2003

Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly and mental retardation syndrome caused by an interstitial deletion of chromosome 17 p11.2. Physical features include short stature, characteristic facial appearance: flattened mid-face, down-turned mouth, prominent and often rosy cheeks; prominent jaw in older children and adults, chronic ear infections, hearing impairment, eye problems, including: strabismus (an eye which turns in or out) and myopia (nearsightedness), hoarse voice, short fingers and toes, heart defects or murmurs, problems related to the urinary system, scoliosis (curvature of the spine), an unusual gait (walking pattern), and decreased sensitivity to pain. Behavioral and developmental characteristics include speech delay and articulation problems, developmental delay, learning disability, mental retardation, hyperactivity, self-injury, including: head banging; hand biting; picking at skin, sores and nails; pulling off finger- and toenails; inserting foreign objects into ears, nose, or other body orifices, explosive outbursts, prolonged tantrums, destructive and aggressive behavior, excitability, arm hugging or hand squeezing when excited. This report is the case of a Korean 3-year-3-month old male with Smith-Magenis syndrome referred from local clinic for the treatment of dental caries. The patient was treated by physical restraint after prophylatic administration of antibiotic(Amoxacillin 50mg/kg).

• Journal of the korean academy of Pediatric Dentistry
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• v.42 no.1
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• pp.75-79
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• 2015

Pulmonary arterial hypertension (PAH) is a common complication of Congenital heart defects (CHD) with left-to-right shunts, and PAH with increased pulmonary vascular resistance (PVR) is associated with considerable morbidity and mortality. General anesthesia (GA) can be life-threatening in patients with PAH, because the positive pressure ventilation during GA increases pulmonary arterial pressure and decreases pulmonary blood flow. This may also lead to hypoxia. Therefore, spontaneous ventilation may be safer than positive pressure ventilation in patients with PAH. A five-year-old male child, weighing 11 kg, with medical history showing a total correction of Tetralogy of Fallot (TOF) in 2009 and ongoing treatment with hypertension (HTN) medicine since 2007, visited the Dankook University Dental Hospital. He had multiple dental caries, and the treatment was completed under sevoflurane insufflation sedation via nasal cannula. The patient remained sedated throughout the operation while maintaining normal vital signs and spontaneous respiration. In conclusion, sevoflurane insufflation sedation may be a safer alternative to GA for the dental treatment of patients with PAH.

• Journal of Veterinary Clinics
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• v.28 no.6
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• pp.586-590
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• 2011

Three small breed dogs weighing less 5 kg were admitted with dyspnea and cardiac murmurs. One dog had primum type ASD and chylothorax was concurrently noted. Two dogs had secundum type ASD with and without concomitant pulmonic stenosis. Although medical treatment was attempted, two dogs with secundum type ASD died and a dog with primum type ASD was successfully managed with medication. Defects were confirmed by the postmortem examination in two cases. We first describe the comparison of clinical and diagnostic features in different anatomic, hemodynamic, and pathophysiological types of ASD in small breed dogs and they show some differences with ASD in large breed dogs.

• Journal of Chest Surgery
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• v.42 no.1
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• pp.87-91
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• 2009

The surgical management of complete transposition of the great arteries, ventricular septal defect, and pulmonary stenosis still remain a significant challenge. The Rastelli (REV procedure) remains the most widely applied procedure for surgical repair of these lesions. Although the Rastelli procedure can be performed with good early results, the intermediate- and long-term results have been less than satisfactory because of deterioration of the hemodynamic performance of the LVOT or RVOT. We performed a modified Nikaidoh procedure as an alternative surgical procedure in a 19-month-old boy weighing 10.4 kg with this anomaly. Aortic translocation with biventricular outflow tract reconstruction resulted in a more "normal" anatomic repair and postoperative echocardiography showed straight, direct, and unobstructed ventricular outflow.

• Journal of the korean academy of Pediatric Dentistry
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• v.43 no.3
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• pp.313-319
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• 2016

Wolf-Hirschhorn syndrome (WHS), associated with the deletion of the short arm of chromosome 4, causes multiple congenital malformations. Patients suffer from various deformities, including mental and growth disorders, epilepsy, hypotonia, congenital heart defects, and atypical craniofacial features. The "Greek warrior helmet appearance" is the most characteristic feature, with a prominent glabella, high arched eyebrow, broad nasal bridge, and hypertelorism. Cleft lip with or without cleft palate is observed in 30% of patients. Dental structure anomalies also exist including multiple tooth agenesis and over-retained primary molars caused by MSX1 gene impairment, and cone-shaped and taurodontic teeth. This case, a 9-year-old girl with WHS, showed intellectual disability, delayed growth development, previous occurrence of seizures, otitis media, and the typical facial features of WHS. Dental findings included multiple congenital missing teeth, over-retained primary teeth, and severe caries on the primary molars. Dental treatments were performed under general anesthesia. This report documents the characteristics of WHS, including general and oral features, and discusses the importance of oral hygiene and preventive dental management.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.67-73
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• 2009

Purpose : In spite of the karyotype and phenotype diversity in Turner syndrome patients, there are few reports about such differences in Korea. We reviewed the data of chromosome abnormalities, clinical manifestations, and comorbidities of Turner syndrome patients in Kyungpook National University Hospital to compare them to the recent hypotheses about sex chromosome gene loci related to Turner symptoms. Materials and Methods : We identified the cytologic findings of 92 patients with Turner syndrome and the clinical findings of 62 patients among them. Results : 54.3 percent of patients had 45,X while 45.7 percent showed other karyotype combinations (45,X/46,XX, 45,X/46,XX/47,XXX, 46,X,del(Xp), 46,X,del(Xq), 45,X/46,X,del(Xq), 46,X,i(Xq), 45,X/46,X,i (Xq)). The Turner symptoms found included short neck, high arched palate, broad chest, Madelung deformity, short metacarpals, scoliosis, cubitus valgus, low hair line, webbed neck, edematous extremities, pigmented nevus, and sexual infantilism. The specific diseases associated Turner syndrome included renal abnormalities, congenital heart disease, hearing defects, diabetes mellitus, hyperlipidemia, and decreased bone density. The phenotype of the mosaicism group was milder than that of the monosomy group. In the case of 46,X,del(Xp) and 45,X/46,X,del(Xq) groups, all had skeletal abnormalities, but the 46,X,del(Xq) group had none. In the case of 46,X,del(Xp) group, all showed short statures and skeletal abnormalities, but no sexual infantilism was observed. In the case of 46,X,i(Xq) and 45,X/46,X,i(Xq) groups, they all showed delayed puberty and had primary amenorrhea. Conclusion : It is important to study karyotype-phenotype correlations in patients with Turner syndrome to obtain interesting information about the genotype-phenotype correlations related to the X chromosome.

• Clinical and Experimental Pediatrics
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• v.51 no.11
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• pp.1211-1216
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• 2008

Purpose : Diamond-Blackfan anemia (DBA) is a rare heterogeneous genetic disorder of infancy and early childhood. It is characterized by red cell aplasia, congenital anomalies, and a predisposition to cancer. Corticosteroids and red cell transfusions are the mainstays of therapy. We describe our experience of 6 cases of DBA that were encountered over a period of 16 years. Methods : Medical records of 6 patients diagnosed to have DBA and admitted to the Chonnam National University Hospital between 1992 and 2008 were retrospectively reviewed. Results : Three patients were males. The age at diagnosis ranged from 3 to 18 months (median, 5.5 months). Heart defects were observed in 4, polydactyly in 2, and strabismus in 1 patient. The median number of transfusions was 3 (range, 2-8). All patients responded to initial treatment with steroids and had a hemoglobin level ${\geq}9g/dL$ with a median of 12.5 days (range, 7-22 days). Three patients are currently not receiving steroid therapy. A minimum dose of oral prednisolone (<5 mg per day) was required to maintain hemoglobin ${\geq}9mg/dL$ in 3 cases. Red cell transfusion was infrequently required in 1 patient. In the median follow-up of 14 years, there was no development of malignancy. No significant side effects of steroids were found, except for short stature in 2. Conclusion : The majority of DBA patients achieved complete response and under maintenance therapy with low dose of steroids. Close observation is needed to monitor steroid side effects, cardiac function, and development of malignancy. A nation-wide survey is necessary to further characterize this rare disease in Korean children.

• Journal of Chest Surgery
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• v.39 no.2 s.259
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• pp.154-156
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• 2006

Inferior sinus venosus ASD (atrial septal defect) is a rare congenital cardiac deformity, that occurs on between the inferior vena cava and right atrium. Diagnosis of inferior sinus venosus ASD is difficult because of its infero-posterior location of the fossa ovalis. Therefor, exact anatomical diagnosis by preoperative and intraoperative transesophageal echocardiography is necessary at preoperation and during the operation. We present a case of residual ASD, which was diagnosed secundum ASD and repaired when the patient was 10 years old. Residual ASD was diagnosed by cardiac echocardiography in preparation of otorhinolaryngology operation. Therefore, reoperation of residual ASD was done when the patient was 24 years old. The patient had secundum ASD and inferior sinus venosus ASD, but in the prior operation, inferior sinus venosus ASD wasn't found and only secundum ASD was repaired. In reoperation, inferior sinus venosus ASD was reveled and patch closure was done.

• Journal of Chest Surgery
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• v.30 no.4
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• pp.373-377
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• 1997

Between January, 1991 and May 1995, mitral valve repair was undertaken on 32 patients under 15 years for congenital mitral regurgitation. Mean age was 24.0$\pm$26.1 months(range 3 months to 15 years), 16 patients were male and 16 patients were female associated cardiac anomalies were found in 26 patients (81%), and ventricular septal defects were noted in 18 patients(56%). In regards to pathologic findings, there were annular dilatation(n:7), leaflet prolapse(n=18), cleft leaflet(n=5) and restricted valve motion (n=2). The method of repair consisted of annuloplasty(Modif ed Devega type) in 14, repair of redundunt leaflet in 6, closure of cleft in 5, triangular resection in 2 and splitting of papillary muscle in one. There was no operative mortality and two late deaths occurred as a result of heart failure and sepsis. Tro patients required replacement of the mitral valve after 3 months and 7 months respectivehy because of recurrent mitral regurgitation. Actuarial survival was 92.5% at 46 months and actuarial freedom from reoperation was 95% at 12 months and 92.5% at 46 months. Actuarial freedom from valve repair failure was 68% at 12 months and 61.8% at 46 months. Although valve repair failure rate was high, we believe that mitral valve repair should be of rcrred to children because of low mortality and low reoperation rate.

• The Korean Journal of Nuclear Medicine
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• v.31 no.1
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• pp.50-56
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• 1997

Gated SPECT can evaluate the regional wall motion of the heart. We evaluated the regional wall motion of the perfusion abnormality in conventional perfusion SPECT with gated SPECT. In case of suspicious perfusion abnormalities, we tried to differentiate the artifact from true abnormality in coronary vascular disease using gated SPECT. We thought that artifacts would have normal wall motion, whereas fixed defects with decreased wall motion would probably represent coronary artery disease. A total of 275 patients who were performed coronary angiography and T1-201 rest/Tc-99m MIBI dipyridamole stress gated SPECT within 2 months were enrolled. In coronary angiography, stenosis more than 50% was considered as coronary artery disease. After injection of 111MBq T1-201 rest image was obtained on triple head SPECT system. 370MBg Tc-99m MIBI was used for the stress image. Eight-frame per-cardiac-cycle gated Tc-99m SPECT studies were done. All the images were analyzed visually. Using perfusion SPECT, the overall sensitivity and specificity were 87% and 55% respectively. Regarding artery territory, sensitivity and specificity were 68% and 73% for left anterior descending artery(LAD), 62% and 78% for right coronary artery(RCA), 42% and 90% for left ciramflex artery(LCX). Using gated SPECT, the overall sensitivity and specificity were 87% and 66% respectively. Sensitivity and specificity were 68% and 78% for LAD, 62% and 79% for RCA, 42% and 90% for LCX. Among 21 false positive cases in perfusion SPECT, 5 cases were interpreted as true negative with gated SPECT. We conclude that gated SPECT provides a valuable adjunct to perfusion SPECT in characterizing perfusion abnormalities and to improve specificity.