• Journal of Genetic Medicine
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• v.16 no.1
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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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• v.5 no.2
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• pp.125-130
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• 2008

Propose: To analyze the indications and cytogenetic results of midtrimester amniocentesis. Material and Methods: This study reviewed 2,523 cases of midtrimester prenatal genetic amniocentesis performed at MizMedi Hospital between January 2000 and December 2007. Results: The most frequent indication for midtrimester amniocentesis was advanced maternal age (45.9%), followed by positive serum markers (29.9%). Chromosomal aberrations were diagnosed in 110 cases (4.4%), for which numerical aberration accounted for 38 cases (34.5%), structural aberration accounted for 65 cases (59.1%), and mosaicism accounted for 7 cases (6.4%). Among the autosomal aberrations, there were 20 cases of trisomy 21 and 8 cases of trisomy 18. With respect to structural aberrations, there were 14 cases of reciprocal translocation and 8 cases of robertsonian translocation. The frequencies of chromosomal aberrations according to the indication were highest in individuals with a family history of chromosome abnormality 14.0% (8/57) followed by previous congenital anomaly 5.9% (2/34). Conclusion: Midtrimester amniocentesis is an effective tool for prenatal diagnosis. Indications such as advanced maternal age, maternal serum markers, and ultrasound are important for predicting abnormal fetal karyotypes.

• The Journal of Korean Orthopaedic Ultrasound Society
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• v.4 no.1
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• pp.1-6
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• 2011

Purpose: To evaluate the usefulness of ultrasonography in diagnosis of the medial meniscus tear as a screening tool before performing magnetic resonance imaging. Materials and Methods: From April 2009 to September 2010, magnetic resonance imaging (MRI) was taken in 147 knees out of 341 knees examined with ultrasonography (US) under the suspicion of medial meniscus tear. The sonographic findings were 16 without abnormality, 12 inhomogeneity, 4 cluster, 60 cleavage and 55 more than 5mm medial extrusion of medial meniscus. In Statistical analysis, sensitivity and specificity, positive predictive value and negative predictive values were calculated. Results: The MRI showed abnormality in 104 knees. Sensitivity and specificity of ultrasonography for MRI was 94.2% and 23.3%, respectively. Positive predictive value was 74.8%, negative predictive value was 62.5%. The positive predictive value of ultrasonography were 58.3% in heterogeneity, 100% in showing cluster, 75% in visible cleft and 80% in medial extrusion. Conclusion: The US is a useful tool in prediction of medial meniscus tear before confirming it in high-cost MRI.

• Journal of Genetic Medicine
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• v.4 no.2
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• pp.190-195
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• 2007

Purpose : FISH is suggested as a useful tool for rapid detection of specific aneuploidy in uncultured amniocytes abnormality in interphase nucleus. In this study, we are going to share our experience using FISH in prenatal diagnosis and suggest the criteria for the diagnosis of aneuploidy by analyzing the results of FISH test. Methods : From January, 1999 to May, 2006, 8,613 tests in amniotic fluids obtained from 7,893 pregnant women were performed by using FISH for prenatal diagnosis of trisomy 21, trisomy 18 and trisomy 13. The indications of chromosome study were a screen positive for Down syndrome or Edwards syndrome in maternal serum marker screening test and an advanced maternal age (${\geq}35$ years old). Results : We have the 8,502 informative results from 8,613 tests (98.7%) which is submitted our criteria and the sensitivity is 98.2%. Conclusion : FISH on uncultured amniocytes is a rapid, clinically useful tool for prenatal diagnosis, with informative specimens being highly accurate. But the limitation of FISH is both expensive and labor-intensive.

• Parasites, Hosts and Diseases
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• v.50 no.1
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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.

• Journal of the Korea Society of Computer and Information
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• v.18 no.9
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• pp.43-51
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• 2013

Classification result by comprehensive analysis of rhythm section and heartbeat unit makes a reliable diagnosis of heart disease possible. In this paper, based on feature-points of ECG signals, rhythm analysis for constant section and heartbeat unit is conducted using rule-based classification and SVM-based classification respectively. Rhythm types are classified using a rule base deduced from clinical materials for features of rhythm section in rule-based classification, and monotonic rhythm or major abnormality heartbeats are classified using multiple SVMs trained previously for features of heartbeat unit in SVM-based classification. Experimental results for the MIT-BIH arrhythmia database show classification ratios of 68.52% by rule-based method alone and 87.04% by fusion method of rule-based and SVM-based for 11 rhythm types. The proposed fusion method is improved by about 19% through misclassification improvement for monotonic and arrangement rhythms by SVM-based method.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.1
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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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• v.13 no.9
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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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• v.75 no.3
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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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• v.42 no.6
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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.