• Journal of Genetic Medicine
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• 제16권1호
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• pp.10-14
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• 2019

Purpose: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. Materials and Methods: This was a retrospective study of POI patients with chromosomal abnormalities diagnosed between January 2009 and December 2017. The definition of POI is based on hypergonadotropinism of 40 or greater in follicle stimulating hormone (FSH) measurements at age 40 years or less. FSH was measured twice at least 4 weeks apart. Karyotyping using peripheral blood for chromosomal testing was conducted in all patients diagnosed with POI. We analyzed the clinical characteristics and genetic causes of patients who were diagnosed with POI. Results: Forty patients were diagnosed with POI including 9 (22.5%) with identified chromosomal abnormalities. The mean age at diagnosis was $23.1{\pm}7.8years$ (ranging between 14 and 39). Three patients did not experience menarche. The presenting complaints were short stature in one case, one case of amenorrhea with ambiguous external genitals, one case of infertility, and six related to menstruation such as oligomenorrhea or irregular rhythm. Turner syndrome was diagnosed in four cases, Xq deletion in one case, trisomy X in two cases, and 46,XY disorder of sexual development in two other patients. Conclusion: Patients diagnosed with POI carrying the same type of chromosomal abnormality manifest different phenotypes. The management protocol also needs to be changed depending on the diagnosis. A karyotype is indicated for accurate diagnosis and proper management of POI in patients, with or without stigmata of chromosomal abnormalities.

• Journal of Genetic Medicine
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• 제5권2호
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• pp.125-130
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• 2008

목 적: 양수 천자를 이용한 세포 유전학적 결과와 산전 유전 진단의 적응증의 변화를 알아보고자 하였다. 대상 및 방법: 지난 2000년부터 2007년까지 8년간 미즈메디 병원 산부인과에 내원한 산모 중 산전 유전 진단의 적응증에 해당되어 양수 천자를 시행한 2,523예에 대하여 세포 유전학적 검사 결과를 종합 분석하였다. 결 과: 양수 천자를 시행한 2,523예의 적응증은 고령의 산모가 1159예(45.9%)로 가장 많았으며, 다음으로 양성 산모혈청 표지자가 755예(29.9%)로 많았다. 염색체 핵형 분석 결과로는 정상 핵형이 2,413예(95.6%)였으며, 염색체 이상을 보인 경우가 110예(4.4%)였다. 염색체 이상을 보인 110예에서는 수적 이상이 38예(34.5%), 구조적 이상이 65예(59.1%), 모자이시즘이 7예(6.4%)로 나타났다. 위의 110예의 염색체 이상을 적응증에 따라 분석한 결과에는 고령의 산모로 의뢰된 경우가 40예(36.4%)로 가장 많았으며, 양성 산모 혈청 표지자가 36예(32.7%)로 많았다. 결 론: 양수 천자는 산전 진단에 있어서 효과적인 방법이다. 이에 고령 산모, 산모 혈청 표지자 검사 그리고 초음파 소견과 같은 적응증은 태아의 염색체 이상 등을 예측하기 위한 산전 세포 유전학적 진단에 효과적인 요인이 된다. 이에 지난 8년간의 미즈메디에서 시행한 산전 세포 유전학 분석 결과는 산전 진찰 및 유전 상담의 중요한 자료로 활용될 수 있을 것이라 사료된다.

• 대한정형외과 초음파학회지
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• 제4권1호
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• pp.1-6
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• 2011

목적: 자기 공명 영상 시행 전에 내측 반월상 연골의 파열 진단에서의 초음파 검사의 유용성을 알아보고자 하였다. 대상 및 방법: 2009년 4월부터 2010년 9월까지 본원 정형외과 외래를 방문하여 내측 반월상 연골 파열 의심 하에 초음파 검사를 시행한 341예 중 자기 공명 영상 검사를 시행한 147예를 대상으로 하였다. 초음파 검사상 이상 소견을 보이지 않는 16예, 비균질성(inhomogeneity)만을 보인 12예, 무리(cluster)를 보인 4예, 실질 내에 틈(cleavage)을 보인 60예, 5 mm 이상의 내측 탈출(extrusion)을 보인 55예를 자기 공명 영상 검사 결과와 비교 하였다. 통계학적으로 민감도와 특이도, 양성 예측률과 음성 예측률을 구하였다. 결과: 자기 공명 영상에서 파열을 보인 경우는 104예였다. 초음파 검사는 자기 공명 영상에 대하여 민감도가 94.2%, 특이도는 23.3%로 측정 되었다. 양성 예측률은 74.8%, 음성 예측률은 62.5%로 측정되었다. 초음파 영상에 따른 양성 예측률은 비균질성이 보이는 경우 58.3%, 무리를 보이는 경우에는 100%, 실질 내에 틈을 보이는 경우 75%, 내측 탈출을 보이는 경우 80%로 나타났다. 결론: 내측 반월상 연골 파열의 진단에 있어 고가의 자기 공명 영상을 시행하기 전 초음파 검사는 파열 가능성 여부를 사전에 아는데 유용하였다.

• Journal of Genetic Medicine
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• 제4권2호
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• pp.190-195
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• 2007

목 적:산전진단에 있어 빠른 진단을 위해 그 유용성이 널리 알려져 있는 FISH 방법을 미배양 세포에 적용할 때, 그 민감도를 높이기 위해 본 연구소의 경험과 기준을 소개하고자 한다. 방 법:1999년 5월부터 2006년 6월까지 본연구소에서 다운증후군 고위험군, 에드워드 증후군 고위험군, 고령산모, 초음파 이상소견 등의 적응증을 주소로 시행한 7,893례의 양수검체를 대상으로 빠른 진단을 위해 8,613례의 미배양 양수세포에 FISH 검사를 시행하였다. 분석은 함춘유전연구소의 기준에 따랐으며, 기존의 세포유전학적 결과와 최종 비교하였다. 결 과:8613례의 FISH 검사 결과, 30개 이상의 세포관찰이 가능하고, 정상인 경우 정상세포의 비율이 75%, 비정상의 경우 비정상 세포의 비율이 70%에 해당하는 8,502례의 결과를 얻었으며, 세포유전학적 결과와도 일치하였다. 결 론:산전진단 시 빠른 진단을 위한 FISH검사는 매우 유용하며, 정확한 분석을 위해 그 기준을 마련하는 것은 매우 중요하다 하겠다. 그러나 비용과 인력이 많이 소요되는 한계점을 가지고 있다.

• Parasites, Hosts and Diseases
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• 제50권1호
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• pp.73-78
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• 2012

We report a case of intraocular gnathostomiasis diagnosed by western blot assay in a patient with subretinal tracks. A 15-year-old male patient complained of blurred vision in the right eye, lasting for 2 weeks. Eight months earlier, he had traveled to Vietnam for 1 week and ate raw wild boar meat and lobster. His best-corrected visual acuity was 20/20 in both eyes and anterior chamber examination revealed no abnormalities. Fundus examination showed subretinal tracks in the right eye. Fluorescein angiography and indocyanine green angiography showed linear hyperfluorescence of the subretinal lesion observed on fundus in the right eye. Ultrasound examination revealed no abnormalities. Blood tests indicated mild eosinophilia (7.5%), and there was no abnormality found by systemic examinations. Two years later, the patient visited our department again for ophthalmologic evaluation. Visual acuity remained 20/20 in both eyes and the subretinal tracks in the right eye had not changed since the previous examination. Serologic examination was performed to provide a more accurate diagnosis, and the patient's serum reacted strongly to the $Gnathostoma$ $nipponicum$ antigen by western blot assay, which led to a diagnosis of intraocular gnathostomiasis. This is the first reported case of intraocular gnathostomiasis with subretinal tracks confirmed serologically using western blot in Korea.

• 한국컴퓨터정보학회논문지
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• 제18권9호
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• pp.43-51
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• 2013

신뢰성 있는 부정맥 진단을 위해서는 리듬 구간 및 심박 단위의 종합적인 분석을 통하여 심전도 신호에 대한 분류 결과가 제시되어야 한다. 본 논문에서는 심전도 신호의 특징점에 기반하여 규칙기반 분류를 이용한 일정 구간의 리듬 분석을 수행하고 SVM기반 분류를 이용한 심박 단위의 리듬분석을 첨가하였다. 규칙기반 분류에서는 리듬 구간의 특징에 대하여 임상 자료로부터 도출된 규칙 베이스를 이용하여 리듬 유형을 분류하도록 하며, SVM기반 분류에서는 심박 단위의 특징에 대하여 미리 학습된 다중 SVM 분류기를 이용하여 단조 리듬 및 주요 비정상 심박을 분류하도록 한다. MIT-BIH 부정맥 데이터베이스를 이용한 실험을 통하여 11가지 리듬 유형에 대하여 규칙기반 방법만을 적용하였을 경우 68.52%, 규칙기반과 SVM기반의 융합 방법을 적용하였을 경우 87.04%의 분류 성능을 각각 보였다. SVM기반 방법으로 단조 리듬과 배열 리듬에 대한 오분류 개선을 통하여 분류 성능에서 19% 정도가 향상됨을 확인하였다.

• Asian Pacific Journal of Cancer Prevention
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• 제13권1호
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• pp.87-90
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• 2012

Cholangiocarcinoma (CCA) is the most common cancer in northeastern Thailand. At present, effective diagnosis of CCA either in humans or animals is not available. Monitoring the development and progression of CCA in animal models is essential for research and development of new promising chemotherapeutics. Ultrasonography has been widely used for screening of bile duct obstruction in CCA patients. In this study, we preliminarily investigated the applicability of ultrasonography to monitor the development and progression of CCA in Syrian golden hamsters (n=8) induced by Opisthorchis viverrini (OV)/dimethylnitrosamine (DMN) administration. Ultrasonography and histopathological examination of hamsters was performed at week 0, 20, 24 and 28 of OV infection or at the start of water/Tween-80 administration to controls. The ultrasonographic images of liver parenchyma and gallbladders of OV/DMN-induced CCA hamsters showed sediments in gallbladder, thickening of gallbladder wall, and hypoechogenicity of liver parenchyma cells. The ultrasonographic images of liver tissues were found to correlate well with histopathological examination. Although ultrasonography does not directly detect the occurrence of CCA, it reflects the thickening of bile ducts and abnormality of liver tissues. It may be applied as a reliable tool for monitoring the development and progression of CCA in animal models in research and development of new promising chemotherapeutics for CCA.

• Asian Pacific Journal of Cancer Prevention
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• 제13권9호
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• pp.4567-4570
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• 2012

Objectives: The purposes of this study were to determine the prevalence and predictive value to detect significant neoplasia and invasive lesions, and to evaluate the correlation between clinical and histopathology of women with squamous cell carcinoma (SCCA) on Siriraj liquid-based cervical cytology (Siriraj-LBC). Methods: The computerized database of women who underwent Siriraj-LBC at Siriraj Hospital, Mahidol University from January 2007 to December 2010 were retrieved. The hospital records of women with SCCA cytology were reviewed. Results: The prevalence of SCCA cytology was 0.07%. A total of 86 women, mean age was 58.1 years. Sixty-one women (70.9%) were post-menopausal. Overall significant pathology and invasive gynecologic cancer were detected in 84 women (97.7%) and 71 women (82.5%), respectively. The positive predictive values for detection of significant neoplasia and invasive lesion were 97.7% and 82.6%, respectively. The cervical cancer was diagnosed in 69 women and among these 58 women were SCCA. Thirteen women (15.1%) had cervical intraepithelial neoplasia (CIN) 3 and two women (2.3%) had cervicitis. The sensitivity and specificity of colposcopy for cervical cancer detection in SCCA cytology were 83.3% and 75%, respectively. Median follow up period was 17.6 months and 64 patients were alive without cytologic abnormality. Conclusions: The final histopathology of SCCA cytology in our populations demonstrated a wide variety, from cervicitis to invasive cancer and the most common diagnosis was invasive cervical cancer. Colposcopy with biopsy and/or endocervical curettage and loop electrosurgical excision procedure should be undertaken to achieve histologic diagnosis.

• Tuberculosis and Respiratory Diseases
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• 제75권3호
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• pp.116-119
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• 2013

Sarcoidosis, a systemic granulomatous disease of unknown etiology. The presentation of sarcoidal granuloma in neck nodes without typical manifestations of systemic sarcoidosis is difficult to diagnose. We describe the case of a 37-year-old woman with an increasing mass on the right side of neck. The excisional biopsy from the neck mass showed noncaseating epithelioid cell granuloma of the lymph nodes. No evidence of mycobacterial or fungal infection was noted. Thoracic evaluations did not show enlargement of mediastinal lymph nodes or parenchymal abnormalities. Immunohistochemistry showed abundant expression of tumor necrosis factor-${\alpha}$ in the granuloma. However, transforming growth factor-${\beta}$ was not expressed, although interleukin-$1{\beta}$ was focally expressed. These immunohistochemical findings supported characterization of the granuloma and the diagnosis of sarcoidosis. Sarcoidosis can present with cervical lymph node enlargement without mediastinal or lung abnormality. Immunohistochemistry may support the diagnosis of sarcoidosis and characterization of granuloma.

• Journal of Korean Neurosurgical Society
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• 제42권6호
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• pp.436-440
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• 2007

Objective : Spinal cord hemangioblastoma is an uncommon vascular neoplasm with a benign nature and is associated with von Hippel-Lindau (VHL) disease in 20-30% of patients. Total removal of these tumors without significant neurological deficit remains a great challenge. The purpose of this study was to investigate the efficacy of VHL mutation analysis and to evaluate surgical outcome of patients with spinal cord hemangioblastomas. Methods : This study included nine patients treated for spinal cord hemangioblastomas at our institute between December 1994 and March 2006. There were four male and five female patients. Mean age was 37.8 years. The mean follow-up period was 22.4 months. Magnetic resonance imaging (MRI) of the complete neuraxis was done in all cases and VHL mutation analysis was performed in three cases for a definite diagnosis. Results : Six patients had intramedullary tumor, and the remaining patients had intradural extramedullary lesions. Five patients were associated with VHL disease. The von Hippel-Lindau mutation analysis was done in three patients and two of them showed VHL gene abnormality. Tumors were located in the cervical cord in five cases and in the thoracic cord in four cases. All patients underwent surgical intervention, and total removal was achieved in six cases. All patients showed improvement or, at least, clinically stationary state. Surgical complications did not develop in any cases. Conclusion : Spinal hemangioblastoma in this series has been safely and effectively removed via a posterior approach. Postoperatively, clinical outcome was excellent in the majority of cases. The VHL mutation analysis was useful in patients with family history and in those with multiple hemangioblastomas.