Purpose: Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system. The goal of this study was to delineate the phenotypic characterization and assess the NF1 mutational spectrum in patients with NF1. Methods: A total of 42 patients, 14 females and 28 males, were enrolled in this study. Clinical manifestations and results of the genetic study were retrospectively reviewed. Results: Age of the patients at the time of NF1 diagnosis was $15.8{\pm}14.6$ years (range, 1-62 years). Twelve patients (28.6%) had a family history of NF1. Among the 42 patients, $Caf\acute{e}$-au-lait spots were shown in 42 (100%), neurofibroma in 31 (73.8%), freckling in 22 (52.4%), and Lisch nodules in seven (16.7%). The most common abnormal finding in the brain was hamartoma (20%). Mental retardation was observed in five patients (11.9%), seizures in one patient (2.4%), and plexiform neurofibromas (PNFs) in four patients (9.5%). One patient with PNFs died due to a malignant peripheral nerve sheath tumor in the chest cavity. Genetic analysis of seven patients identified six single base substitutions (three missense and three nonsense) and one small deletion. Among these mutations, five (71.4%) were novel (two missense mutations: p.Leu1773Pro, p.His1170Leu; two nonsense mutations: $p.Arg2517^*$, $p.Cys2371^*$; one small deletion: $p.Leu1944Phefs^*6$). Conclusion: The clinical characteristics of 42 Korean patients with NF1 were extremely variable and the mutations of the NF1 gene were genetically heterogeneous with a high mutation-detection rate.
Kim, So-Young;Kim, Sung-Gyeong;Park, Jong-Hyock;Park, Eun-Cheol
Journal of Preventive Medicine and Public Health
/
v.42
no.4
/
pp.243-250
/
2009
Objectives : The purposes of this study is to estimate the cost of cancer care after its diagnosis and to identify factors that can influence the cost of cancer care. Methods : The study subjects were patients with an initial diagnosis one of four selected tumors and had their first two-years of cancer care at a national cancer center. The data were obtained from medical records and patient surveys. We classified cancer care costs into medical and nonmedical costs, and each cost was analyzed for burden type, medical service, and cancer stage according to cancer types. Factors affecting cancer care costs for the initial phase included demographic variables, socioeconomic status and clinical variables. Results : Cancer care costs for the initial year following diagnosis were higher than the costs for the following successive year after diagnosis. Lung cancer (25,648,000 won) had higher costs than the other three cancer types. Of the total costs, patent burden was more than 50% and medical costs accounted for more than 60%. Inpatient costs accounted for more than 60% of the medical costs for stomach and liver cancer in the initial phase. Care for latestage cancer was more expensive than care for early-stage cancer. Nonmedical costs were estimated to be between 4,500,000 to 6,000,000 won with expenses for the caregiver being the highest. The factors affecting cancer care costs were treatment type and cancer stage. Conclusions : The cancer care costs after diagnosis are substantial and vary by cancer site, cancer stage and treatment type. It is useful for policy makers and researchers to identify tumor-specific medical and nonmedical costs. The effort to reduce cancer costs and early detection for cancer can reduce the burden to society and improve quality of life for the cancer patients.
It has become evident in recent years that parathyroid adenoma and well differentiated thyroid cancer occur together more than would be expected by chance alone. However, the association between them is not well understood. We have experienced 4 cases of coexistent parathyroid adenoma and well-differentiated thyroid cancer during the past 16 years. None of them had a familial incidence or a history of radiation exposure. Three cases showed symptomatic hypercalcemia(including renal stones, bone pain, joint pain) and in two of them(patient 1 and patient 2), thyroid abnormalities were detected preoperatively by neck ultrasonography or neck CT for evaluation of parathyroid lesions. However, in patient 3, a parathyoid humor was identified and removed incidentally during the course of thyroidectomy. In 3 cases, surgeries for thyroid carcinoma and parathyroid adenoma were performed during the same exploration of the neck, but in patient 4, thyroidectomy preceded parathyroidectomy; The interval between thyroidectomy and subsequent parathyroidectomy was 11 yeras. The thyroid tumors in 3 cases were papillary carcinoma, the sizes of which ranged from 1.0 cm to 1.5 cm in greatest diameter. The remaining case(patient 4) was minimal invasive follicular carcinoma. Total or near-total thyroidectomy with various types of cervical lymphnode dissection and bilateral neck exploration for the parathyroid lesion was performed in 3 cases with papillary carcinoma. Ipsilateral lobectomy and contralateral partial thyroidectomy with consequent unilateral neck exploration for the parathyroid tumor was performed in the case of follicular cancer. In our experience, parathyroid adenoma and well-differentiated thyroid carcinomas can be coexistent and we felt that the attention to the hypercalcemic patients would be needed for detection of this rare condition.
The tracking and analysis of cell activities in time-lapse sequences plays an important role in understanding complex biological processes such as the spread of the tumor, an invasion of the virus, the wound recovery and the cell division. For automatic tracking of cells, the tasks such as the cell detection at each frame, the investigation of the correspondence between cells in previous and current frames, the identification of the cell division and the recognition of new cells must be performed. This paper proposes an automatic cell tracking algorithm. In the first frame, the marker of each cell is extracted using the feature vector obtained by the analysis of cellular regions, and then the watershed algorithm is applied using the extracted markers to produce the cell segmentation. In subsequent frames, the segmentation results of the previous frame are incorporated in the segmentation process for the current frame. A combined criterion of geometric and intensity property of each cell region is used for the proper association between previous and current cells to obtain correct cell tracking. Simulation results show that the proposed method improves the tracking performance compared to the tracking method in Cellprofiler (the software package for automatic analysis of bioimages).
Lycii fructus is the fruit of Lycium chinense Miller and is part of the Solanaceae family. Lycii fructus produces various effects such as hypotensive, hypoglycemic, anti-pyretic, and anti-stress activities. Lycii fructus is known to contain betaine, carotene, nicotinic acid, zeaxanthin, and cerebroside. In the present study, the effects of Lycii fructus aqueous extract on lipopolysaccharide (LPS)-induced inflammation in murine raw 264.7 macrophage cells were investigated. In this study we utilized the 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay, reverse transcriptionpolymerase chain reaction (RT-PCR), Western blotting, and nitric oxide (NO) detection. Lycii fructus aqueous extract suppressed NO production by inhibiting the LPS-induced expressions of inducible nitric oxide synthase (iNOS) and tumor necrosis factor-alpha (TNF-$\alpha$) mRNA and iNOS protein in murine raw 264.7 macrophage cells. Also, Lycii fructus aqueous extract suppressed the activation of nuclear factor-kappa B (NF-${\kappa}B$) in the nucleus. These results demonstrated that Lycii fructus aqueous extract causes an anti-inflammatory effect that was likely produced by the suppression of iNOS expression through the down-regulation of NF-$\hat{e}B$ binding activity.
Recently detection of early gastric cancer (EGC) has been increasing and the treatment strategies for gastric cancer have been changing. The purpose of this study was to compare clinical outcomes between laparoscopically assisted (LADG) and hand-assisted laparoscopic gastrectomy (HALDG) and open distal gastrectomy for early gastric cancer. This review is directed toward providing gastric surgeons with recent advances in the treatment of EGC. We investigated the English language literature for the past 12 years through computer searches which focused on : 1) Patient demographics, 2) Operation time, 3) Intra-operative blood loss, 4) Depth of invasion, 5) CBC, 6)Weight loss, 7) Analgesic requirement, 8)Time NPO, 9) Length of hospital stay, 10) Tumor stage, 11) Lymph node (LN) dissection, 12) Position of LN resected, 13) Complications. Improved operative techniques and surgical instrumentation have facilitated the development of minimally invasive gastric cancer surgery. The short-term benefits of laparoscopic gastrectomy included less surgical trauma, less pain, rapid return of gastrointestinal function, and shorter hospital stay, with no change in operative outcome. Laparoscopic gastrectomy was better accepted by the patients as a good procedure and promptly brought the patients back to their previous lifestyle and activities of daily living. But the advantages of HALDG for gastric cancer, extended lymph node dissection and intracorporeal anastomosis are feasible and easier with the presence of the internal hand. The hand-assisted laparoscopic (HALDG) method reported the best results in lymph node dissection.This method is an alternative to total laparoscopic radical gastrectomy. LADG and HALDG, when compared with conventional open gastrectomy, have several advantages. When performed by a skilled surgeon, LADG and HALDG are safe and useful techniques for patients with early-stage gastric cancer. Their appropriateness for gastric cancer surgery require further study.
Park, Sung-Hee;Kim, Mi-Young;Suh, Chang-Hae;Lee, Keon-Young;Choi, Suk-Jin;Cho, Jae-Young
Investigative Magnetic Resonance Imaging
/
v.14
no.2
/
pp.139-144
/
2010
Enteric duplications associated with the pancreas are especially uncommon, and the differential diagnosis of pancreatic duplication cysts is often difficult, and may be confused with various cystic lesions of the pancreas. We report a case of pancreatic duplication cyst; present the images and laboratory findings including cyst fluid tumor markers. MR and MRS findings enabled the detection of the location, contour, characteristics of cystic fluid and definition of tissue planes between the lesion and adjacent structures, providing useful information for an accurate surgical approach.
Chang, Yeon Soo;Kim, Min Sung;Kim, Dong Hee;Park, Seulkee;You, Ji Young;Han, Joon Kil;Kim, Seong Hwan;Lee, Ho Jung
Journal of Gastric Cancer
/
v.16
no.2
/
pp.120-124
/
2016
Primary squamous cell carcinoma (SCC) of the stomach is a very rare disease. However, the pathogenesis, clinical characteristics, and prognosis of gastric SCC are controversial and remain to be elucidated. Herein, we report a case of primary gastric SCC of the remnant stomach after subtotal gastrectomy. A 65-year-old man was admitted to our hospital due to epigastric discomfort and dizziness. He had undergone subtotal gastrectomy 40 years previously for gastric ulcer perforation. Endoscopy revealed a normal esophagus and a large mass in the remnant stomach. Abdominal computed tomography revealed enhanced wall thickening of the anastomotic site and suspected metachronous gastric cancer. Endoscopic biopsy revealed SCC. Total gastrectomy was performed with Roux-en-Y esophagojejunostomy. A 10-cm tumor was located at the remnant stomach just proximal to the previous area of anastomosis. Pathologic examination showed well-differentiated SCC extended into the subserosa without lymph node involvement (T3N0M0). The patient received adjuvant systemic chemotherapy with 6 cycles of 5-FU and cisplatin regimen, and he is still alive at the 54-month follow-up. According to the treatment principles of gastric cancer, early detection and radical surgical resection can improve the prognosis.
Kim, Hwa-Jung;Cho, Jin-Hee;Lyu, Yong-Man;Lee, Sun-Hye;Hwang, Kyeong-Ha;Lee, Moo-Song
Journal of Preventive Medicine and Public Health
/
v.43
no.3
/
pp.257-264
/
2010
Objectives: An accurate estimation of cancer patients is the basis of epidemiological studies and health services. However in Korea, cancer patients visiting out-patient clinics are usually ruled out of such studies and so these studies are suspected of underestimating the cancer patient population. The purpose of this study is to construct a more complete, hospital-based cancer patient registry using multiple sources of medical information. Methods: We constructed a cancer patient detection algorithm using records from various sources that were obtained from both the in-patients and out-patients seen at Asan Medical Center (AMC) for any reason. The medical data from the potentially incident cancer patients was reviewed four months after first being detected by the algorithm to determine whether these patients actually did or did not have cancer. Results: Besides the traditional practice of reviewing the charts of in-patients upon their discharge, five more sources of information were added for this algorithm, i.e., pathology reports, the national severe disease registry, the reason for treatment, prescriptions of chemotherapeutic agents and radiation therapy reports. The constructed algorithm was observed to have a PPV of 87.04%. Compared to the results of traditional practice, 36.8% of registry failures were avoided using the AMC algorithm. Conclusions: To minimize loss in the cancer registry, various data sources should be utilized, and the AMC algorithm can be a successful model for this. Further research will be required in order to apply novel and innovative technology to the electronic medical records system in order to generate new signals from data that has not been previously used.
Ji, Min-Young;Lee, Young-Choon;Kim, Kyoung-Sook;Cho, Jin-Won;Jung, Kyu-Yong;Kim, Cheorl-Ho;Choo, Young-Kug
Archives of Pharmacal Research
/
v.22
no.3
/
pp.243-248
/
1999
Sialic acids are key determinants for biological processes, such as cell-cell interaction and differentiation. Sialyltransferases contribute to the diversity in carbohydrate structure through their attachment of sialic acid in various terminal positions on glycolipid and glycoprotein (N-linked and O-linked) carbohydrate groups. Gal$\beta$ 1,3(4)GlcNAc $\alpha$2,3-sialyltransferase (ST3Gal III) is involved in the biosynthesis of $sLe^{X}$ and sLe^{a}$ known as selection ligands and tumor-associated carbohydrate structures. The appearance and differential distribution of ST3Gal III mRNA during mice embryogenesis [embryonic (E) days; E9, E11, E13, E15] were investigated by in situ hybridization with digoxigenin-labeled RNA probes coupled with alkaline phosphatase detection. On E9, all tissues were positive for ST3Gal III mRNA expression whereas ST3Gal III mRNA on E11 was not detected throughout all tissues. On E13, ST3GAl III mRNA was expressed in different manner in various tissues. In this stage, ST3Gal III mRNA was positive only in the liver, pancreas and bladder. On E15, specific signal for ST3GAl III was detected in the liver, lung and forebrain. These results indicate that ST3Gal III is differently expressed at developmental stages of mice embryo, and this may be importantly related with regulation of organogenesis in mice.
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