• Clinical and Experimental Pediatrics
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• v.50 no.6
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• pp.576-579
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• 2007

The syndrome of resistance to thyroid hormone (RTH) is characterized by reduced tissue sensitivity to thyroid hormone (TH). In the majority of subjects, RTH is caused by mutations in the thyroid hormone receptor beta ($TR{\beta}$) gene, located on the chromosome locus 3p24.3. RTH is inherited in an autosomal dominant manner. The clinical presentation of RTH is variable, but common features include elevated serum levels of thyroid hormone (TH), a normal or slightly increased thyrotropin (thyroid stimulating hormone, TSH) level that responds to thyrotropin releasing hormone (TRH), and goiter. We report a 4 year-old girl, who was clinically euthyroid in spite of high total and free $T_4$, and $T_3$ concentrations, while TSH was slightly increased. Sequence analysis of the thyroid hormone receptor beta gene (THRB) confirmed a heterozygous C to T change at nucleotide number 1303, resulting in a substitution of histidine by tyrosine at codon 435 (H435Y). Further analysis of her parents revealed that the H435Y variation was a de novo mutation since neither parents had the variation. Her parents' TH and TSH levels were within normal range.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.8 no.1
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• pp.31-40
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• 2005

Purpose: This study aimed to provide, as a basic material, the experiences of endoscopy in diagnosis and treatment of tumorous conditions in the upper gastrointestinal tract in children. Methods: The objects were 26 patients diagnosed as having tumorous conditions in the upper gastrointestinal tract among 1,283 patients who underwent upper gastrointestinal endoscopic examination at the Department of Pediatrics, Pusan National University Hospital, from January 1994 to July 2004 retrospectively. The characteristics of patients, the chief complaints for endoscopic examination, the sorts of tumors diagnosed, the endoscopic findings of tumors, and the treatment of tumors were analysed. Results: 1) Eleven male and fifteen female were included, whose mean age was $6.93{\pm}4.02years$. 2) The chief complaints for endoscopic examination were abdominal pain (80.7%), vomiting or nausea (30.8%), and gastrointestinal beeding (30.7%) in order. 3) Six cases of ectopic pancreas, five cases of sentinel polyp, three cases of papilloma and vallecular cyst, two cases of Brunner's gland hyperplasia and gastric submucosal tumor, one case of gastrointestinal stromal tumor, duodenal intramural hematoma, T cell lymphoma, lipoma, and Peutz-Jeghers syndrome were diagnosed by endoscopy with or without biopsy. 4) The location of tumors was in the pharynx (19.2%), esophagus (7.7%), gastro-esophageal junction (23.0%), stomach (30.7%) and duodeneum (26.9%). 5) The size of tumors was less than 10 mm in 53.8%, 10~20 mm in 26.9%, more than 20 mm 19.2%. 6) Treatments for tumors included resection by laser, surgical resection, endoscopic polypectomy with a forcep or snare, and observation 7) There was no significant complication. Conclusion: Various and not a few tumors were found in the upper gastrointestinal tract. The endoscopy was accurate, effective, and safe means for diagnosis and treatment of those lesions in children.

• Archives of Plastic Surgery
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• v.36 no.3
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• pp.356-360
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• 2009

Purpose: Lipofibromatous Hamartoma(LFH) of nerve is a tumor - like lipomatous process principally involving the young persons. This is rare disease characterized by a soft slowly growing mass surrounding and infiltrating major nerves and their branches of the palm and digits. LFH of nerve usually affects the median nerve, with the most common sites of presentation being the distal forearm and hand in the wrist or palm. It may cause symptoms of compression neuropathy and is associated with macrodactyly. Recently, MRI plays a major role in confirming the diagnosis of LFH. Therefore, we present two cases of LFH in the hand with MRI features and surgical management. Methods: One is 6 - years - old female who presented with macrodactyly involving both the soft tissue and bony parts of the second, third and forth digits of her right hand. The other one is 16 - years - old man who presented involving the soft tissue of the second and third digits of his right hand, with pain and numbness, along with motor and sensory deficits in the median nerve distribution. To evaluation about LFH, we enforced preoperative MRI and physical examination. After confirming the diagnosis of LFH, we proposed decompression of all compromised peripheral nerve to help alleviate pain and paresthesia to reduce the likelihood of permanent motor and sensory sequelae. Results: A characteristic feature on MRI is the appearance of serpentiform nerve fascicle surrounded by fibro - fatty tissue within the expended nerve sheet. Distribution of fat between fascicles is asymmetric. Two cases were treated by limited debulking of the redundant tumor tissue and excision of epineurial fatty tissue. These cases were performed with relief of symptom. Conclusion: MRI not only confirms the diagnosis, it also provides a detailed assessment of nerve involvement preoperatively. Especially, on coronal images, the nerve has a spagetti - like appearance that is pathognomonic of LFH. Recommendations for early treatment include decompression of the carpal tunnel, debulking of the fibro - fatty sheath, microsurgical dissection of the neural elements and excision of involve nerve with or without grafting.

• The korean journal of orthodontics
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• v.34 no.6 s.107
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• pp.514-525
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• 2004

The purpose of this study was to evaluate the correlation between nicotine and the activity of bone forming cell. MG63 osteoblast-like cells were used for this study. Several factors were examined including the proliferation of cell, alkaline phosphatase activity, the formation of osteocalcin and osteoprotegerin. and the synthesis of its mRNA. MG63 osteoblast-like cells were incubated for 1, 2, 3 and 6 days with nicotine added to the culture medium in 1.0 ${\mu}M$, 1.0mM, 2.5mM, 5.0mM, 7.5mM, and 10.0mM concentrations. The proliferation of MG63 osteoblast-like cells was temporarily activated at the low nicotine concentrations. At high concentrations (>5.0 mM), however. it was suppressed. Alkaline phosphatase activity was suppressed in a dose-dependent manner as the concentration of nicotine increased. Osteocalcin decreased in a dose-dependent manner at high nicotine concentrations of more than 7.5mM and the same result was show when the osteoblasts were treated with low concentrations for longer than 3 days. There was a difference in the influence of nicotine on the synthesis of osteocalcin mRNA and formation of osteocalcin itself at 1 and 3 days. Generally, osteoprotegrin notably declined in all experimental groups. However, the level of its mRNA increased at high nicotine concentrations of more than 7.5mM after 3 days and more than 5.0mM after 6days.