• 대한세포병리학회지
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• 제17권1호
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• pp.51-55
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• 2006

The plasmacytoid variant is an extremely rare form of urothelial carcinoma in which the malignant cells resemble those of plasmacytoma. We report the cytologic features of 3 cases of this disorder. All 3 patients were male and presented with painless macroscopic hematuria. The voided urine cytology revealed a few scattered clusters of tumor cells in a bloody background. Each tumor cell had an abundant amount of cytoplasm that was clear or densely stained and characterized by eccentrically located nuclei. A histological examination of tissue obtained from a radical cystectomy confirmed the cytologic diagnosis in each 3 case, revealing a diffusely infiltrating tumor composed of round, noncohesive tumor cells demonstrating a high nuclear grade. These cells had infiltrated the tunica propria in 2 cases, but were limited to the submucosa in 1 case. The tumor cells were plasmacytoid in appearance, each demonstrating an eccentric nucleus and dense cytoplasm, as seen in the cytologic findings. All of the tumors were immunoreactive for pancytokeratin, CK7, CK20; negative for epithelial membrane antigen (EMA), leukocyte common antigen (LCA), kappa, lambda, and CD79a. Thus, it is important to consider the plasmacytoid variant of urothelial carcinoma in addition to plasmacytoma or lymphoma as a diagnosis when encountering plasmacytoid tumor cells in a voided urine sample.

• Clinics in Shoulder and Elbow
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• 제12권2호
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• pp.245-249
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• 2009

목적: 견관절의 관절와 순 병변과 정상적인 해부학적 변형에 대해서 많은 연구가 이루어졌다. 관절와 순 병변을 치료하는데 있어서 버포드 병변 및 관절하순 공 등의 해부학적 변형 등은 항상 감별을 요하게 된다. 대상 및 방법: 정상 변형을SLAP병변으로 오인한 19세 여자환자에 대해 관절경적 수술을 시행하였다. 결과: 관절경적 소견 상 상완 이두근 장두가 상부 관절낭 및 극상근건에 부착되어 있는 소견이 관찰되었고, 이것이 SLAP 병변으로 오인된 것으로 판단된다. 결론: 이에 저자들은 상부 관절와 순 전후 병변으로 진단되어 관절경 수술을 시행하던 중 경험한 상부 관절와 순과 이두박근 장건의 부착부위 간의 드문 해부학적 정상 변형을 문헌 고찰과 함께 보고하고자 한다.

• 대한세포병리학회지
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• 제19권2호
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• pp.160-163
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• 2008

The cytologic diagnosis of the follicular variant of papillary thyroid carcinoma (FVPTC) has become one of the common causes of false negative diagnoses when performing fine needle aspiration cytology (FNAC) of the thyroid gland. We retrospectively reviewed all the aspirates for which a diagnosis of FVPTC had been made based on the surgically excised specimens, regardless of the cytologic diagnosis. 145 FNACs was performed in 135 patients. The cytologic diagnoses were categorized as 2 unsatisfactory specimens (1.4%), 16 benign (11.0%), 49 atypical (33.8%) and 78 malignant lesions (53.8%). The tumor cells consistently showed significant nuclear overlapping, irregular nuclei and fine chromatin in all cases; however, nuclear grooves and inclusions were scarce. Galectin-3 immunostaining was performed on the cell blocks of 65 cases and this was positive for 45 cases (69.2%). The results of our study demonstrate that the determination of minimal cytologic criteria is needed to raise the sensitivity of detecting FVPTC by FNAC, and galectin-3 immunostaining is useful to make decisions on the surgical treatment of cytologically atypical thyroid nodules.

• Journal of Genetic Medicine
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• 제19권2호
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• pp.94-99
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• 2022

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems. Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.

• Transactions on Control, Automation and Systems Engineering
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• 제4권1호
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• pp.62-74
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• 2002

The tracking of a reference temperature trajectory in a polymerization batch reactor is a common problem and has critical importance because the quality control of a batch reactor is usually achieved by implementing the trajectory precisely. In this study, only energy balances around a reactor are considered as a design model for control synthesis, and material balances describing concentration variations of involved components are treated as unknown disturbances, of which the effects appear as time-varying parameters in the design model. For the synthesis of a tracking controller, a method combining the input-output linearization of a time-variant system with the parameter estimation is proposed. The parameter estimation method provides parameter estimates such that the estimated outputs asymptotically follow the measured outputs in a specified way. Since other unknown external disturbances or uncertainties can be lumped into existing parameters or considered as another separate parameters, the method is useful in practices exposed to diverse uncertainties and disturbances, and the designed controller becomes robust. And the design procedure and setting of tuning parameters are simple and clear due to the resulted linear design equations. The performances and the effectiveness of the proposed method are demonstrated via simulation studies.

• 대한세포병리학회지
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• 제12권1호
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• pp.45-48
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• 2001

Acinic cell carcinoma(ACC) is the third common malignancy in major salivary gland. Fine needle aspiration cytology is a useful tool for the diagnosis of salivary gland lesions. However, some low grade malignancies, such as ACC and mucoepidermoid carcinoma show relatively high false negative rate, mainly due to deceptively benign cytomorphologic appearance. We experienced a papillary-cystic variant of ACC, having different cytopathologic features compared with those of classic ACC. Our case showed monolayered sheets and papillary clusters without any acinic structures or naked nuclei of the tumor cells. Foamy proteinaceous material was seen in the background. The tumor cells had a large amount of granular cytoplasm and eccentric nuclei. Many vacuolated or clear cells were also noted.

• 대한화학회지
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• 제58권6호
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• pp.553-559
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• 2014

Alzheimer's disease (AD) is a devastating neurodegenerative disease that represents the most common form of dementia among the elderly population. The deposition of aggregated ${\beta}$-amyloid ($A{\beta}$) senile plaques in the human brain is a classic observation in the neuropathology of AD, yet an understanding of the mechanism of their formation remains elusive. $A{\beta}$ is formed through endoproteolysis of the amyloid precursor protein (APP) by ${\beta}$-secretase (BACE1, ${\beta}$-site APP-cleaving enzyme) and ${\gamma}$-secretase. In this study, BACE1 protein was successfully over-expressed, purified, and refolded and utilized in a binding study with hispidin. We developed a simpler refolding method using a urea gradient and size-exclusion gel filtration to purify an active BACE1 protein variant, in larger quantities than that reported previously, and measured the binding affinity of hispidin to the BACE1 protein variant through isothermal titration calorimetry.

• 해부∙생물인류학
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• 제31권4호
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• pp.167-170
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• 2018

랑거겨드랑활은 겨드랑에서 흔히 나타나는 변이다. 랑거겨드랑활의 해부학적 그리고 임상적 중요성 때문에 이에 대한 관심이 많다. 학생실습과정에 68세 여성 시신의 오른쪽 팔에서 근육변이가 관찰되었다. 이 근육은 넓은등근의 가쪽모서리에서 근육의 형태로 일어났다. 그 후 힘줄의 형태로 겨드랑동맥과 정중신경을 가로질러 지나간 후 넓어지며 다시 근육의 형태로 큰가슴근에 부착되었다. 우리는 이 근육변이를 소개하고 이것의 임상적 의의에 대해 논의하였다.

• Imaging Science in Dentistry
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• 제48권4호
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• pp.233-244
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• 2018

Purpose: Oral carcinoma cuniculatum is a rare well-differentiated variant of oral squamous cell carcinoma. The purpose was to systematically review its unique features to differentiate it from other variants as verrucous carcinoma, papillary squamous cell carcinoma and well-differentiated squamous cell carcinoma. Materials and Methods: A systematic review was performed using MEDLINE, Dentistry and Oral Sciences Source and PubMed databases and any existing articles related to the research subject missed in the search strategy to screen ones reporting cases occurring exclusively in the oral cavity in English literature. Variables analyzed included clinical, etiologic, imaging, histopatholgical features, treatment, follow-up and survival rates. Results: From 229 hits, 17 articles with 43 cases were included in the systematic review. Clinically it showed a female predilection with pain and/or ulceration of a relatively long duration and exudation being the most common symptoms. Histologically, it showed more endophytic features comprising well-differentiated squamous epithelium with absent or minimal cytological atypia and multiple keratin filled crypts or cuniculus. Inflammatory stromal reaction and discharging abscesses were reported in most of the cases. Bone destruction was predominant in most imaging features. Complete surgical resection with a safety margin was the treatment of choice in most of the cases with few recorded recurrence cases. Conclusion: Apprehensive knowledge of oral carcinoma cuniculatum unique features is essential to avoid its misdiagnosis and provide proper treatment especially for recurrent cases.

• Journal of Genetic Medicine
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• 제19권1호
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• pp.27-31
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• 2022

X-linked dominant hypophosphatemic rickets are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX. Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter. The female has a history of multiple surgical treatments because of lower limb deformities. Her biochemical findings revealed low serum phosphorus levels with elevated serum alkaline phosphatase activity and normal serum calcium levels, suggesting presence of hypophosphatemic rickets. To identify the molecular causes, we used a multigene testing panel and found a mutation, c.667dup (p.Asp223GlyfsTer15), in PHEX gene. To the best of our knowledge, this is a novel mutation. A heterozygous form of the same variant was detected in daughter, who showed no typical symptoms such as bow legs, frontal bossing, or waddling gate, but presented early signs of impaired mineralization in both X-ray and biochemical findings. The daughter was initiated onto early medical treatment with oral phosphate supplementation and an active vitamin D analog. Because the daughter was genetically diagnosed based on a family history before the onset of symptoms, appropriate medical management was possible from early infancy.