• Tuberculosis and Respiratory Diseases
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• v.65 no.3
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• pp.207-211
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• 2008

X-linked agammaglobulinemia is the most common type of primary immunodeficiency disorder. Mutation ofthe cytoplasmic tyrosine kinase gene, Btk (Bruton's tyrosine kinase), is known to be the etiology of X-linked agammaglobulinemia. The patients with this disease manifest a B-cell deficiency and low levels of serum immunoglobulin; due to the deficient antibodies, they suffers from recurrent upper and lower respiratory infections. We report here a 24-year-old male with an initial clinical impression of recurrent pneumonia and bronchiectasis. The patient presented with marked pan-hypogammaglobulinemia and the absence of circulating B-lymphocytes on the immunologic study, and he carried a splicing mutation of intron 2 in the Btk gene (IVS2 -3C>G).

• Journal of the korean academy of Pediatric Dentistry
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• v.31 no.3
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• pp.372-380
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• 2004

Cleidocranial dysplasia(CCD) is a congenital disorder of skeletal and dental abnormality, which is mesodermal dysfunction influencing many tissues and organs. Skeletal abnormalities in CCD are delayed closure of cranial suture and fontanelle, presence of wormian bone and clavicle aplasia. And CCD has an effect on the long bones, phalanges, spine, pelvis, muscles, and central nervous system. Dental manifestations include retention of deciduous teeth, multiple supernumerary teeth, delayed or absent eruption of permanent teeth and formation of cysts around nonerupted teeth. But as a result in common with a lack of medical and physical disability patient may have no substantive complaint, there are many masticatory and psychological problem by absent eruption of permanent teeth after exfoliation of deciduous teeth. For this reason CCD is necessary fo early diagnosis and must be improvement of the patient's appearance as well as provision of a functioning masticatory mechanism by treatment of surgical removal of supernumerary teeth, followed orthodontically eruption of the natural permanent teeth at adequate time.

• Journal of the korean academy of Pediatric Dentistry
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• v.47 no.3
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• pp.352-358
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• 2020

Glanzmann's thrombasthenia (GT) is a rare, autosomal recessive inherited congenital disorder, characterized by impaired blood coagulation due to platelet dysfunction. It was first reported by the pediatrician Glanzmann in 1918. GT affects both males and females, and it is more common in regions of the Middle East, India, and France, where intermarriage is common. It has an incidence of about 1 in 1,000,000 people. In South Korea, according to the Division of Rare Diseases, Korea Centers for Disease Control and Prevention, around 200 cases have been reported in 2018. Clinical symptoms include petechia, ecchymosis, epistaxis, and gingival bleeding. The spontaneous loss of deciduous teeth can result in excessive bleeding with that blood transfusion should be considered. Preventing hemorrhages and hemostasis are most important factors in dental treatment. Local bleeding can be controlled by compression, but platelet transfusion can be required by prolonged bleeding. Pediatric dentists can minimize the gingival bleeding by control of the oral hygiene to prevent gingivitis and dental caries. The importance of oral hygiene and periodic recall check-up should be emphasized. During dental treatment, the examination and the treatment plan of patient should be modified to prevention of hemorrhages carefully. A 6-year-old girl with GT was referred for the treatment of dental caries, and resin restoration was performed under nitrous oxide inhalation sedation. After treatment, compression was required for the bleeding control.

• Clinical and Experimental Pediatrics
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• v.52 no.1
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• pp.119-123
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• 2009

Renal cell carcinoma (RCC) arising from epithelial cells of the renal tubules is a highly aggressive and malignant tumor in all ages; however, it rarely occurs in children. the standard treatment for RCC is radical nephrectomy with lymph node dissection when the tumor is localized and can be completely resected. Adjuvant chemotherapy, radiotherapy, and immunotherapy are used for pediatric patients with advanced RCC involving lymph nodes or metastatic lesions. Sorafenib is an oral, multikinase inhibitor that has recently been approved for use in metastatic RCC. Common toxicities that have been reported include dermatologic changes such as rash or desquamation and hand-foot skin reaction, diarrhea, fatigue, alopecia, and hypertension. In particular, hand-foot syndrome (HFS) an erythematous skin lesion of the palms and solesis most often caused by cytostatic chemotherapeutic agents. In this report, we have studied a 14-year-old female patient with hand-foot syndrome that occurred in association with sorafenib for the treatment of metastatic RCC. Furthermore, this case demonstrates that reversal of complications can be achieved by discontinuing the drug and intervention with topical steroids, vitamin E, and high-dose pyridoxine.

• The Korean Journal of Cytopathology
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• v.1 no.2
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• pp.152-157
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• 1990

A 70-year-old female who was diagnosed as myxoid chondrosarcoma by fine needle aspiration of a pleural mass is described. She presented with left chest discomfort of 4 months' duration and aggravating dyspnea and chest pain for 2 months. Chest X-ray and CT scan revealed a large lobulated low density mass invading chest wall at the left pleural cavity and massive pleural fluid. Fine needle aspiration was done under the impression of mesothelioma or metastatic cancer. The aspirates from the mass were very cellular and composed of isolated or clustered forms of large plump cells. Abundant cytoplasm was blulsh opaque and the margin was rounded in the isolated cells, whereas clustered cells show ill-defined ceil borders and aggregating tendency. The nuclei were eccentric, round to ovoid, and had fine chromatin pattern and multiple small nucleoli. Cellular pleomorphism or mitotic figure was not definite. These findings were consistent with cytologic features of chondrosarcoma. Final diagnosis was confirmed as myxoid chondrosarcoma by mediastinoscopic biopsy and the tumor showed strong positivity for S-100 protein.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.7 no.1
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• pp.33-37
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• 2011

The ectopic eruption is defined as abnormal eruption which gives to displacement of the teeth and abnormal root resorption of adjacent teeth. The prevalence of ectopic eruption is reported to vary 2~6%, most of them are in the maxilla. Etiologic factors include narrow maxilla, large maxillary teeth, inclined eruption path of the first molar, retruded position of the maxilla and hereditary factor. Irreversible ectopic eruption where the second primary molar is lost often causes mesial tipping and rotation of the permanent molar, unfavorable occlusion and space deficiency for the second premolar. Ectopically erupted teeth should be treated early to maintain normal development of the dentition, harmony of facial growth and occlusal support. The method of the treatment are classified as follows : appliances that is positioned at the contact point for unlocking and the distal movement, fixed appliance that is connected to more than one tooth, and occlusion guiding method after disking or extraction of the second deciduous molar. A case report of a patient with bilaterally ectopic eruption of maxilla and mandible first permanent molar was present. Also, the patient who had experienced the chronic myelogenous leukemia, show various dental developmental complications. The ectopic eruption was treated with a Halterman appliance that was a effective way of correcting of ectopic eruption of the permanent first molar.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.13 no.1
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• pp.33-36
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• 2017

Cerebral palsy(CP) is a motor disorder of the central nervous system resulting from irreversible brain injury due to congenital or acquired causes. Health-related quality of their life is associated with severity of impairment and socioeconomic factors. These patients are particularly easy to be neglected because they lack capacity to care themselves unless they have the help of caregiver from high socioeconomic status. A 11-year-old girl with severe motor impairment came with the chief complaint of severe calculus deposition on whole dentition. She was taken with bed-ridden state with pediatrician not her parents. Since brain was damaged at the age of two, she has been left alone in the city care hospitals without parental care. Main caregiver is her father with not high educational level. Oral hygiene was not performed at all. Severe calculus deposition, gingival swelling, and gingival redness around the whole dentition were observed. During the 1st and 2nd visit, scaling and extraction was performed. CP patients with low socioeconomic status and severe motor impairment tend to be neglected from dental treatment. Dental care, along with medical care, is crucial to the quality of CP patients' lives. Therefore it is important that they visit for regular dental check ups and receive preventative care.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.14 no.1
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• pp.17-21
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• 2018

Williams syndrome (WS) is a rare congenital disorder which is caused by microdeletion of approximately 1.6 MBP from the long arm of chromosome 7 at 7q11.23. It is characterized by cardiovascular anomalies, elfin face and mental retardation. The most typical oral signs in patient with WS are hypodontia, reduced mesio-distal dimensions both in the primary and permanent teeth, macroglossia, excessive interdental spacing, enamel hypoplasia and enamel hypomineralization. The majority of children with WS have mild to moderate mental retardation, generalized anxiety disorder, hyperactivity disorder and sensitivity to sounds. The purpose of this presentation is to describe dental treatment for a child with WS. A 9-year-old boy diagnosed with WS had caries on his first permanent molars. Because of the poor cooperation, these teeth were filled temporarily with glass ionomer, and treatment under general anesthesia was planned. Under general anesthesia, caries treatment of first permanent molar and extraction of primary molar was successfully performed and there was no postoperative complications related to general anesthesia. Open bite, hypodontia, excessive dental space, enamel hypoplasia, enamel hypomineralization were observed which were characteristic in WS.

• Journal of the korean academy of Pediatric Dentistry
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• v.36 no.4
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• pp.601-606
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• 2009

Amelogenesis Imperfecta (AI) is a genetic disorder which retards the development of enamel and it can be classified into three types: hypoplastic, hypomaturation, hypocalcified type. This can occur both in deciduous and permanent dentition. A 8 year 8 month old patient with a chief complaints of delayed eruption on upper anteriors, calculus deposit on lower anteriors and anterior openbite visited the clinic. Anteriors had thin layer of enamel and were very narrow. Especially lower anteriors had rough surface and were in bad shape. Teeth were very hypersensitive to thermal changes. Upper and lower first molars showed severe attrition on the occlusal surface. Radiographs also verified hypoplastic enamel in the whole dentition including the teeth in the tooth bud. The patient was diagnosed as hypoplastic AI, and is being treated at the pediathc and prosthodontic department of the Kyunghee dental university hospital. To improve the function, esthetics, hypersensitivity of the AI patients, restorations on the posteriors and the anteriors with oral hygiene instruction are necessary, Constant follow-up check is needed until full growth and after full growth, cooperative care with the other department is needed.

• Progress in Medical Physics
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• v.10 no.1
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• pp.41-46
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• 1999

There is necessity for making a smaller and more sensitive detector in small field sizes. This report assesses the suitability of metal-loaded thermoluminescent dosimeters for this purpose. Measurements were performed in the 6 MV photon and 6 MeV electron beams of a medical linear accelerator with LiF thermoluminescence dosimeters (TLD-100) embedded in solid water phantom. TLD-100 chips(surface area 3.2 $\times$ 3.2 $\textrm{mm}^2$) loaded with a metal plate(Tin or gold respectively) were used to enhance dose readings to TLD-100. Surface dose was measured for field size 10 $\times$ 10 $\textrm{cm}^2$ and 100 em SSD. Measurements have been made of the enhanced signal intensity and good linearity for absorbed dose with each metal. Using a 1 mm each metal on TLD-l00 in the beam increased the surface dose to 14% and 56% respectively for 6MV photon. In the case of 6 MeV electron, gold plate enhanced the TL response to 13%, but there is no difference for tin plate. The specific dose response of TLD-100 with thin metal plate increases with electron concentration of metal film, this is most likely due to increased electron scattered from the additional material with electron density higher than TLD-100. This emphasizes the role of TL dosimeters with metal as amplified dosimeters for therapeutic high energy x-ray beams. Due to the enhanced dose reading of TLD-100 with metal plate, it could be possible to develop smaller TL dosimeter with high sensitivity.