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1p36 Deletion syndrome Presenting with Various Epileptic Semiologies
김애리(Ae ree Kim),이지원(Ji own Lee),이문향(Mun hyang Lee),이지훈(Jee hun Lee) 대한소아신경학회 2015 대한소아신경학회지 Vol.23 No.4
본 저자들은 생후 1개월부터 발생한 여러 유형의 발작, 삼킴장애, 발달지연, 소두증 및 형태학적 이상을 보인 남아에서 비교유전체 보합법(array comparative genomic hybridization)을 통하여 1p36 결실증후군을 진단한 예를 경험하였기에 보고하는 바이다. 1p36 deletion syndrome is the most common telomeric microdeletion syndrome. It is related to various clinical features including neurodevelopmental impairment, seizure, growth retardation, and heart defects. It is also known to have several morphologic features, including deep-set eyes, flat nasal bridge, straight eyebrows and pointed chin. Seizure is common in 1p36 deletion syndrome and its type and natural course is variable. Control of seizure with antiepileptic drugs is variable; however, seizure improves with time in majority of cases. We report a patient presenting with various types of seizure, developmental delay, and morphological abnormality. The patient developed complex partial seizure, infantile spasm, and myoclonic seizure, at the age of 1, 4, and 12 months, respectively. The patient was diagnosed as 1p36 deletion syndrome using array comparative genomic hybridization. At the age of 15 months, seizure disappeared and development began to progress.
Superficial Epithelioma with Sebaceous Differentiation
김정은 ( Jeong Eun Kim ),김애리 ( Ae Ree Kim ),송해준 ( Hae Jun Song ),오칠환 ( Chil Hwan Oh ),김상백 ( Sang Baik Kim ) 대한피부과학회 2008 대한피부과학회지 Vol.46 No.8
Superficial epithelioma with sebaceous differentiation (SESD) is a rare benign neoplasm with peculiar histopathologic characteristics. It is characterized by a superficial plate-like proliferation of basaloid to squamoid cells with broad attachments to the overlying epidermis. Keratin-filled cysts and clusters of sebaceous cells are present within the lobules. We herein report an additional case of SESD which developed on a 68-year-old female. (Korean J Dermatol 2008;46(8):1075~1077)
문정석,오화은,이주한,김애리,김철환,김한겸,박미자,원남희,Moon, Jeong-Seok,Oh, Hwa-Eun,Lee, Ju-Han,Kim, Ae-Ree,Kim, Chul-Hwan,Kim, Han-Kyeom,Park, Mee-Ja,Won, Nam-Hee 대한세포병리학회 1997 대한세포병리학회지 Vol.8 No.2
Mucoepidermoid carcinoma is the most common malignant neoplasm of the salivary gland, compring between 30 and 40%. Fine needle apsiration cytology was performed in five patients with mucoepidermoid carcinoma. The patients consisted of three males aged of 42, 48, and 60 years, and two females aged 36, and 56 years. The primary tumor sites were the parotid gland in four patients and the submandibular gland in the rest one. The histologic grades were low in one patient, intermediate in two patients and high in other two. In our experience, the common cytologic findings of low grade subtype were predominent mucous cells with some intermediate cells in an abundant mucinous background. The cytologic findings of intermediate grade subtype were predominant clusters of intermediate cells with or without mucous cells in an abundant mucinous background. And the cytologic findings of high grade subtype were predominant clusters of epidermoid cells with intermediate cells in a bloody background. Cytologic pleomorphism and atypia were more severe in high grade than low and intermediate grade, and nucleoli were more frequently noted in epidermoid cells. In low grade, it is very difficult to decide the benignancy or malignancy of the tumor. In fact, the presence of mucous cells in a mucinous background should rule out any other type of well differentiated carcinoma.
방광의 미세유두형 요로상피암종의 세포소견 -1예 보고-
이영석,이현주,최정우,신봉경,김한겸,김인선,김애리,Lee, Young-Seok,Lee, Hyun-Joo,Choi, Jung-Woo,Shin, Bong-Kyung,Kim, Han-Kyem,Kim, In-Sun,Kim, Ae-Ree 대한세포병리학회 2006 대한세포병리학회지 Vol.17 No.1
A micropapillary variant of urothelial carcinoma (MPC) is a distinct entity with an aggressive clinical course. It has a micropapillary configuration resembling that of ovarian papillary serous carcinoma. Its cytologic features have rarely been reported. We report a case of MPC detected by urine cytology. A woman aged 93 years presented with a chief complaint of macroscopic hematuria. Cytology of her voided urine showed clusters of malignant cells in a micropapillary configuration. Each tumor cell had a vacuolated cytoplasm, a high nuclear:cytoplasmic ratio, and irregular hyperchromatic nuclei. An ureteroscopic examination revealed exophytic sessile papillary masses extending from the left lateral wall to the anterolateral wall of the urinary bladder. A transurethral resection of the tumor was carried out. The tumor was characterized by delicate papillae with a thin, well-developed fibrovascular stromal core and numerous secondary micropapillae lined with small cuboidal cells containing uniform low- to intermediate-grade nuclei and occasional intracytoplasmic mucinous inclusions. These tumor cells infiltrated the muscle layers of the bladder, and lymphatic tumor emboli were frequently seen. Recognizing that the presence of MPC components in urinary cytology is important for distinguishing this lesion from low-grade papillary lesions and high-grade urothelial carcinomas can result in early detection and earlier treatment for an improved treatment outcome.
이영호(Young Ho Lee),김난희(Nam Hee Kim),윤종우(Jong Woo Yoon),이영기(Young Ki Lee),조상경(Sang Kyung Jo),김용섭(Yong Sup Kim),차대룡(Dae Ryong Cha),조원용(Won Yong Cho),김애리(Ae Ree Kim),원남희(Nam Hee Won),구자룡(Ja Ryong Ku),김형규( 대한내과학회 1997 대한내과학회지 Vol.52 No.6
N/A Objectives: Apoptosis is a physiologic or programmed cell death in contrast with necrotic cell death. Recently it has been known that apoptosis are concerned in the effects of chemotherapeutic agents or radiation therapy on tumor cells. Cyclosporine a(CsA), a potent immunosuppressant, has been effectively used in organ transplantaion, but it also has a significant toxicity in the kidneys. However the exact mechanism of CsA nephrotoxicity has not been ellucidated yet. This study was performed to investigate whether apoptosis particiates in CsA nephrotoxicity or not. Methods: Twenty seven Sprague-Dawley rats were divided into 5 groups. 1) Vehicle group(n=7) as a control: Cremopbor 50mg/kg/day/subcutaneously (sc) for 7 days, 2) CsA4 groupin=5): CsA 50mg/kg/ day/sc for 4 days, 3) CsA7 group(n=5): CsA 50mg/ kg/day/sc for 7 days, 4) R4 group(n=5): 4 days after CsA 50mg/kg/day/se for 7 days, and 5) R8 group (n=5): 8 days after CsA 50mg/kg/day/sc for 6 days, Biochemical parameters including blood pressure were measured in each group and the cell count of apoptosis in rat kidney was evaluated by in situ end labelling(ISEL) method. Results: 1) The increase of serum creatinine, blood pressure and decrease of creatinine clearance appeared in CsA4 and CsA7 groups. 2) The ce11 counts of apoptosis on tubular cells in CsA4 and CsA7 groups were significantly increased more than in control group(79.0±16.9, 98.4±11.4 vs 35.4±8.8, p<0.05), and the cell counts of apoptosis on tubular cells in R4 and R8 groups were not significantly different from that in control group(53.8±12.5, 65.2±7.1 vs 35.4±8.8, p>0.05), 3) The cell count of apoptosis on the interstitium in each group was not significantly different from that in control group(p>0.05). 4) The cell count of apaptosis on tubular cells was increased more than that on the interstitium in all groups. 5) The cell count of apoptosis on cortex only in CsA7 group was significantly increased more than that io control group(57.8±11.5 vs 21.8±2.6, p<0.05), 6) The cell count of apoptosis on medulla only in CsA4 group was significantly increased more than that in control group(636. ±17.9 vs 22.6±9.7, p<0.05). 7) Total cell counts of apoptosis only in CsA4 and CsA7 groups were significantly increased more than in contral group(96.0±21.1, 99.8±11.8 vs 46.6±11.4, p<0.05). Conclusion: CsA caused apoptosis mainly on tubular cells rather than the interstitial cells and apoptotic cells in CsA nephrotoxicity were not in- creased during the recovery phase. With the results apoptosis may play an important role in CsA nephrotoxicity.