• Korean Journal of Veterinary Research
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• v.46 no.1
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• pp.67-70
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• 2006

An 8-month-old 3.15 kg female Cocker-spaniel with history of ataxia referred to the Veterianary Medical Teaching Hospital, Chungnam National University. There were no abnormalities in CBC and serum chemical analysis. Agenesis of dens was found on dorsoventral view in cervical radiography. Compressed cervical spinal cord and enlarged cerebral ventricle were observed in magnetic resonance imaging. It was diagnosed as atlantoaxial instability with hydrocephalus. For conservative therapy, neck brace was applied and diuretics and prednisolone were administered. The dog's ataxia became better gradually.

• Journal of the korean academy of Pediatric Dentistry
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• v.28 no.2
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• pp.316-322
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• 2001

Chemotherapy and radiotherapy used on pediatric oncology patients often causes dentofacial anomalies. Defects noted include tooth and root agenesis, root thinning, root shortening, localized enamel defect and maxillofacial underdevelopment. The effect of radiotherapy usually is confined to the radiation site but the effect of chemotherapy may be more wide spread becuase of its systemic distribution. Many pediatric cancers are treated with a combination of radiation and multiagent chemotherapy. Dental treatment affected by chemotherapy and radiation therapy damage to developing teeth and maxilloface includes retention of teeth, space maintenance, prosthetic considerations, requirements for oral hygiene. The following case related to multiple rootless teeth.

• Molecules and Cells
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• v.39 no.6
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• pp.501-507
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• 2016

The corpus callosum is a bundle of nerve fibers that connects the two cerebral hemispheres and is essential for coordinated transmission of information between them. Disruption of early stages of callosal development can cause agenesis of the corpus callosum (AgCC), including both complete and partial callosal absence, causing mild to severe cognitive impairment. Despite extensive studies, the etiology of AgCC remains to be clarified due to the complicated mechanism involved in generating AgCC. The biological function of PI3K signaling including phosphatidylinositol-3,4,5-trisphosphate is well established in diverse biochemical processes including axon and dendrite morphogenesis, but the function of the closely related phosphatidylinositol-3,4,-bisphosphate (PI(3,4)P2) signaling, particularly in the nervous system, is largely unknown. Here, we provide the first report on the role of inositol polyphosphate 4-phosphatase II (INPP4B), a PI(3,4)P2 metabolizing 4-phosphatase in the regulation of callosal axon formation. Depleting INPP4B by in utero electroporation suppressed medially directed callosal axon formation. Moreover, depletion of INPP4B significantly attenuated formation of Satb2-positive pyramidal neurons and axon polarization in cortical neurons during cortical development. Taken together, these data suggest that INPP4B plays a role in the regulating callosal axon formation by controlling axon polarization and the Satb2-positive pyramidal neuron population. Dysregulation of INPP4B during cortical development may be implicated in the generation of partial AgCC.

• Journal of Chest Surgery
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• v.40 no.1 s.270
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• pp.60-62
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• 2007

Pulmonary hypoplasia is an entity of pulmonary agenesis. Pulmonary agenesis is a rare congenital anomaly, usually diagnosed soon after birth. It is commonly associated with other anomalies, mainly of the cardiovascular systems. Although it may hasten the death of a child, sometimes it is compatible with normal growth. We report a right lateral thoracotomy approach for mitral valve repair in a young woman with pulmonary hypoplasia, in whom preoperative computed tomography showed severe right side shifting of the mediastinum and total collapse of the right lung.

• Journal of Yeungnam Medical Science
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• v.22 no.2
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• pp.241-246
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• 2005

Constitutional trisomy 8 is a relatively rare aneuploidy; most identified cases are mosaic with a normal cell line. The phenotype is highly variable from apparently normal to severe disability. The proportion of abnormal cells is dramatically different between tissues and the severity of the phenotype is not directly related to the level of mosaicism. Therefore, it is very difficult to provide a definitive prognosis. We report here a case of constitutional trisomy 8 mosaicism with agenesis of the corpus callosum, congenital heart disease and micrognathia. The trisomy 8 cell line was not detected by prenatal cytogenetic study. This is the fourth reported case of constitutional trisomy 8 mosaicism in Korea.

• Journal of the Korean Academy of Esthetic Dentistry
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• v.13 no.2
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• pp.7-11
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• 2004

The Schwachman-Diamond syndrome is an autosomal recessive syndrome(1/20,000 births), consisting of pancreatic insufficiency, neutopenia, which may be intermittent, neutrophil chemotaxis defects, metaphyseal dysostosis, failure to thrive and short stature. Patients present in infancy with poor growth and grease, foul-smelling stools that are characteristic of malabsorption. These children can be readily differentiated from those with cystic fibrosis by their normal sweat chloride levels, lack of the cystic fibrosis gene, and characteristic metaphyseal lesions. Pathologically, the pancreatic acini are replaced by fat with little fibrosis. The neutropenia may be cyclic. Recurrent pyogenic infections otitis media, pneumonia, dermatitis(fig 1), sepsis are common and a frequent cause of death. In dental examination, these patients had a poor oral hygine and moderate generalized marginal gingivitis, also show delayed primary tooth exfoliation and oral development. This report illustrates a case that pancreatic agenesis 6 yeas-old boy with various esthetic dental problems has been served the esthetic dental restoration of 6 years.

• The korean journal of orthodontics
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• v.47 no.5
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• pp.323-333
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• 2017

Orthodontic treatment of a complex case that involves retained deciduous mandibular second molars with missing permanent successors is challenging. Usually, congenitally missing teeth are manifested with other dental anomalies that further complicate orthodontic treatment, such as retained deciduous teeth, impactions, transpositions and peg-shaped lateral incisors. Even though the long term prognosis of the retained deciduous tooth is not fully predictable, if the teeth are in good condition, the patient and clinician may incline towards a decision to preserve the deciduous teeth as long as possible. This case report demonstrates that deciduous teeth, in this case the mandibular second molars and maxillary canine, can be incorporated into final occlusion with clinically stable long-term results.

• Advances in pediatric surgery
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• v.1 no.2
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• pp.181-185
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• 1995

Segmental intestinal dilatation is rare, which causes symptom of bowel obstruction and requires resection. The resection is not only diagnostic but also curative procedure. Recently, author experienced 2 cases of segmental dilatation of the ileum due to focal agenesis of the intestinal muscularis in 7 day & 4 day-old female neonates. The post operative recovery was excellant in the first case after resection of dilated ileum(15cm in length) and end to end anastomosis, and discharged at 20th day. But in the second case, the passage disturbance was not relieved after resection of dilated ileum (30cm in length), and author re-resected 80cm more of dilated proximal ileum at 2 weeks after the first operation. This baby discharged after diarrhea control with Loperin on 1 month after the second operation. Final histologic examination showed 1) normal population of ganglion cells in both narrowed & dilated ileum in both cases. 2) focal abscence of muscularis propria in both cases. 3) relative hypertrophy of inner circular muscle layer and thinned, multiple fragmented outer longitudinal muscle layer in case 2.

• Journal of Chest Surgery
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• v.15 no.1
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• pp.21-26
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• 1982

Fourteen cases of funnel deformity, 11 were male and the others female, treated over a eleven-year period, are presented. The overall results with the methods described by the authors, Wada, Shannon, Adkins and Ravitch appear to be excellent. The symmetric depression was more common In children under the age of 12 years and asymmetric one Increased after the age of 12. Six cases of abnormal cardiac auscultatory findings revealed no consistent hemodynamic abnormalities. An 21-year-old female was associated with left lung agenesis and dextroversion of the heart, and a 6-year-old boy with congenital bronchogenic cyst who underwent right upper lobectomy. EKG changes associated with the anomaly were observed in all. Pulmonary function test showed the range from normal to moderate restriction which did not Improve in only one patient after operation, but the patient did not complain any restriction In activity. Some transient complications were developed which resulted in improvement.

• Journal of Chest Surgery
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• v.7 no.2
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• pp.153-162
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• 1974

Four patients with funnel chest deformity corrected in the Department of Thoracic Surgery, Seoul National University Hospital are presented. The first case was a 21-year old female with cyanosis, clubbed fingers and systolic murmur on the left infrascapular region on physical examination associated with agenesis of the right lung. The deformity was of asymmetrical funnel chest, in which the left hemithorax was more sunken. She was corrected by the method of Funnel Costoplasty of Wada. The second case was a three years old boy whose anterior chest wall was symmetrically deformed, and he was corrected by the method of Ravitch using Adkins strut under the sternum. The third was a 22-year old man with symmetrical deformity, and was corrected by the method described by Shannon in 1973. The last patient was a 22-year old man and he had dyspnea on exertion, palpitation and apical systolic murmur with symmetrical funnel chest deformity. He was also corrected by Ravitch operation, All of them has excellent result.