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박건,김영두,권종범,원용순,곽문섭,Park, Kuhn,Kim, Young-Du,Keon, Jong-Bum,Won, Yong-Soon,Kwack, Moon-Sub 대한기관식도과학회 2000 大韓氣管食道科學會誌 Vol.6 No.1
Isolated(H-type) tracheoesophageal fistula without esophageal atresia occurs in approximately 4% of esophageal anomalies, and represents the least form of abnormal laryngotracheo-esophageal communication. Its symptoms such as coughing and choking The during the feeding, abdominal distension and recurrent pneumonitis usually start from birth. Diagnosis is made between 4 days to 4 years using the contrast esophagography and/or tracheoscopy. In case of diagnostic delay the postoperative mortality is not negligible and the most common cause of mortality is respitatory problems(infection, respiratory distress). So early diagnosis is essential in the newborn period with high index of suspicion. We report a case of H-type TEF in which operative repair was successful with references to recent literature.
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GNAS1 유전자 과오돌연변이가 관찰된 가성부갑상선기능저하증 Ia형 1예
박건,김지희,이승화,이은선,노세응 대한진단검사의학회 2015 Laboratory Medicine Online Vol.5 No.1
Pseudohypoparathyroidism (PHP) is a group of genetic disorders in which the kidneys fail to respond to parathyroid hormone. Genetic defects in the GNAS complex locus lead to reduced Gsα (alpha-subunit of the heterotrimeric stimulatory G protein) activity in PHP type Ia patients. These patients exhibit characteristics of Albright hereditary osteodystrophy (AHO) and hypocalcemia, increased parathyroid hormone, and resistance to other Gsα protein-coupled hormones. AHO has a wide range of manifestations such as short stature, obesity, round face, subcutaneous ossification, and bone shortening in the hands and feet. In this study, we present the case of a 47-yr-old woman who was diagnosed with PHP type Ia with AHO. She showed tetany, dizziness, irritability to light, decreased visual acuity, cognitive impairment, and motor dysfunction. Direct sequencing identified a heterozygous missense mutation in exon 6 (c.466G>A, p.Asp156Asn) in GNAS1. To our knowledge, this case is the first report in Korea of PHP type Ia caused by a heterozygous missense mutation in exon 6 (c.466G>A, p.Asp156Asn) in GNAS1. 가성부갑상선기능저하증은 신장의 부갑상선 호르몬에 대한 반응저하를 유발하는 유전질환이다. 가성부갑상선기능저하증 Ia형에서 다양한 GNAS 복합부위의 결손들이 발견되었으며, GNS1 유전자 돌연변이는 Gsα 단백 활성도를 감소시킨다. 대부분의 가성부갑상선기능저하증 Ia형 환자는 특징적으로 알브라이트 유전성 골이영양증(Albright hereditary osteodystrophy)과 저칼슘혈증, 부갑상선호르몬의 증가, Gsα 단백이 매개하는 여러 호르몬들에 대한 저항성을 보인다. 알브라이트 유전성 골이영양증은 작은 신장, 비만, 둥근얼굴형, 피하 석회결절 그리고 발과 손의 단지증 등의 다양한 증상이 발현되는 증후군이다. 저자들은 알브라이트 유전성 골이영양증, 근강축, 어지러움, 빛에 대한 과민성과 시력저하, 인지 및 운동기능의 장애를 보이는 47세 여자환자에서 직접염기서열분석을 통해 국내에서는 최초로 GNAS1 유전자 엑손 6에서 과오돌연변이(c.466G>A,p.Asp156Asn)를 증명하여 가성부갑상선기능저하증 Ia형으로 진단한 증례를 경험하였기에 보고하는 바이다.
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비인두에 발생한 Mucoepidermoid Carcinoma 1예
박건,조석현,백승삼,태경 대한이비인후과학회 2009 대한이비인후과학회지 두경부외과학 Vol.52 No.4
Mucoepidermoid carcinoma of nasopharynx, a kind of primary adenocarcinoma of the the nasopharynx, is very rare and about 21 cases of mucoepidermoid carcinoma occurring in the nasopharynx were reported to date in the English literature. We recently experienced a case of mucoepidermoid carcinoma of the nasopharynx in a 31-year-old woman, who presented with nasopharyngeal mass and left lateral neck mass. We present this case with a review of the literature.
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Massive Empyema Associated With Transient Hypogammaglobulinemia of Infancy and IgA Deficiency
박건,이경일,이미희,이준성,김지창 대한의학회 2009 Journal of Korean medical science Vol.24 No.2
Transient hypogammaglobulinemia of infancy (THI) is originally defined as a physiological maturation defect of immunoglobulin G (IgG) production that occurs at 3- 6 months of age and lasts until 18 to 36 months of age. We report here on a 22- month-old child with THI and IgA deficiency, who had massive pneumococcal empyema. Her depressed IgG level returned to normal within 6 months, but IgA level was still low at 6 yr of age. Although THI is an age-dependent and self-limiting disorder, severe infection that includes an atypical presentation of an infection may occur in some patients and this requires evaluation with immunologic study.
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박건,박영진,임요섭,안태규,한세준 대한부인종양학회 2009 Journal of Gynecologic Oncology Vol.20 No.3
Paraneoplastic neutrophilia caused by a squamous cell carcinoma of the uterine cervix has been seen rarely. We report a case of relapsed squamous cell carcinoma of the uterine cervix with severe neutrophilia, rapid tumor growth and aggressive clinical course, possibly due to autocrine stimulation of cell growth by G-CSF and IL-6 without other possible causes of neutrophilia. Paraneoplastic neutrophilia caused by a squamous cell carcinoma of the uterine cervix has been seen rarely. We report a case of relapsed squamous cell carcinoma of the uterine cervix with severe neutrophilia, rapid tumor growth and aggressive clinical course, possibly due to autocrine stimulation of cell growth by G-CSF and IL-6 without other possible causes of neutrophilia.
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