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Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening hematological disorder characterized by uncontrolled activation of CD8+ T and natural killer cells, leading to a cytokine storm and severe organ dysfunction. Although secondary HLH related to autoimmune diseases usually demonstrates a good treatment response to immunosuppressive therapy for underlying conditions, there is no consensus regarding the treatment in case of unresponsiveness to the treatment. Herein, we present a case of HLH that was unresponsive to high-dose glucocorticoid and cyclosporine treatment in a patient with newly diagnosed systemic lupus erythematosus. The patient’s clinical features and laboratory abnormalities rapidly improved with ruxolitinib, an oral Janus kinase 1 and 2 (JAK1/2) inhibitor. This result suggests that blocking JAK-STAT pathway may be a potential treatment option in patients with refractory HLH secondary to autoimmune diseases.
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Background@#The Gout Impact Scale (GIS), part of the Gout Assessment Questionnaire 2.0, measures gout-specific health-related quality of life (HRQOL). This study aimed to translate the GIS into Korean and validate the Korean version (K-GIS) using generic HRQOL measures. @*Methods@#The GIS was translated into Korean and back-translated into English. We asked patients aged 18 years or older who met the 2015 gout classification criteria to fill out the questionnaires (from January 2022 to June 2022); the K-GIS (5 scales [0–100 scores each]), along with the Korean version of Health Assessment Questionnaire (HAQ) and EuroQol-5 dimension (EQ-5D). We investigated the internal consistency, construct validity, and discriminative validity for gout characteristics of K-GIS. The K-GIS form was administrated to patients 4 weeks later to assess the test-retest reliability using the intraclass correlation coefficient (ICC). @*Results@#One hundred patients completed the questionnaire. The mean ± standard deviation age of the patients was 53.0 ± 15.1 years, and 99.0% of the patients were men. All scales had high degree of internal consistency (Cronbach’s α = 0.59 to 0.96) and test-retest reliability (n = 18, ICC = 0.83 to 0.94, all P 6 mg/dL, frequent gout flares in the past year, and fewer comorbidities. In contrast, neither the HAQ nor the EQ-5D could discern these subsets of patients. @*Conclusion@#The K-GIS is a reliable and valid HRQOL measure for patients with gout. Higher K-GIS scores were associated with clinical characteristics leading to unfavorable outcomes, which were not demonstrated by the HAQ and EQ-5D.
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Purpose@#This study aimed to investigate the potential role of copine-1 (CPNE1), a calcium-dependent membrane-binding protein encoded by the CPNE1 gene, in colorectal cancer (CRC). Despite previous research on the involvement of copine family members in various solid tumors, the specific role of CPNE1 in CRC remains poorly understood. @*Methods@#We conducted clinicopathological analysis and functional studies to explore the impact of CPNE1 in human CRC.We examined the expression levels of CPNE1 in CRC patients and correlated it with invasive depth, lymph node metastasis, distant metastasis, lymphatic invasion, and TNM stage. Additionally, we performed experiments to assess the functional consequences of CPNE1 knockdown in CRC cells, including proliferation, colony formation, migration, invasion, and the expression of key regulators involved in the cell cycle and epithelial-mesenchymal transition (EMT). Furthermore, we evaluated the effects of CPNE1 knockdown on tumor growth using a xenograft mouse model. @*Results@#High expression of CPNE1 was significantly associated with advanced tumor features in CRC patients. CPNE1 knockdown in CRC cells led to impaired abilities in proliferation, colony formation, migration, and invasion. Furthermore, CPNE1 silencing resulted in the suppression of protein expression related to the cell cycle and EMT. In the xenograft mouse model, CPNE1 knockdown inhibited tumor growth. @*Conclusion@#CPNE1 plays a crucial role in promoting tumorigenesis and metastasis in human CRC. By regulating the cell cycle and EMT, CPNE1 influences critical cellular processes at the membrane-cytoplasm interface. These results provide valuable insights into the potential development of novel therapeutic strategies for CRC targeting CPNE1.
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Purpose@#Several studies demonstrated that obesity and underweight were negatively associated with outcomes of breast cancer. However, the results are still controversial, and the impact of body mass index (BMI) on distant metastasis-free survival (MFS), which might directly affect mortality, was less well evaluated. Our study aimed to verify the prognostic effect of BMI in breast cancer. @*Methods@#A retrospective analysis of 504 patients with stage I-III breast cancer who underwent surgery from January 2005 to December 2013 was performed. The patients were divided into three groups according to preoperative BMI: underweight <18.5 kg/m2, normal weight 18.5–24.9 kg/m2, and overweight ≥25 kg/m2. The association between body weight status and breast cancer recurrence was analyzed. Subgroup analysis by tumor subtype according to receptor status was also performed. @*Results@#The median follow-up period was 88 months. For disease recurrence, histologic grade and human epidermal growth factor receptor 2 (HER2)-positivity were independent prognostic factors in multivariate analysis. Stage, histologic grade, HER2-positivity, and BMI status were independent prognostic factors for distant metastasis. In survival analysis, overweight and underweight were significant predisposing factors for MFS, but not for disease-free survival (DFS). In the estrogen receptor (ER)-positive group, overweight and underweight patients had significantly worse DFS and MFS than normal weight patients. In the ER-negative or HER2-positive group, BMI status had no significant association with DFS and MFS. @*Conclusion@#The prognostic role of BMI on the survival outcomes of patients with breast cancer was different by tumor subtype. In ER-positive patients, overweight and underweight statuses had a negative prognostic effect on DFS and MFS, respectively.
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We report a case about successful surgical treatment of a granular cell tumor in the ascending colon. A 36-year-old man underwent screening colonoscopy. An endoscopic examination revealed a 10-mm yellowish and hemispheric mass in the ascending colon, and lower endoscopic ultrasonography revealed a hypoechoic-to-isoechoic mass invaded the submucosal layer. The mass was suspected to be a colonic carcinoid tumor. Based on the preoperative evaluation, endoscopic complete resection was considered difficult. Therefore, the lesion was removed via laparoscopic right hemicolectomy. Histological examination revealed that the tumor consisted of nests of polygonal cells with abundant granular eosinophilic cytoplasm. Immunohistochemical staining revealed diffuse positivity for S100 and CD68. Therefore, the tumor was diagnosed as a granular cell tumor. We suggest that surgical resection should be considered if it is located in the thin-walled ascending colon prone to perforation, difficult to rule out malignant tumor due to submucosal invasion, or to remove endoscopically.
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Small intestinal malignant tumor accounts for about 3% of all malignant tumors in the gastrointestinal tract, among which 13% are leiomyosarcoma (LMS). In addition, epithelioid LMS is of very rare occurrence. As small intestinal malignant tumors are initially asymptomatic and nonspecific, diagnosis is often delayed, and this can lead to large tumor at the time of detection and lead to intussusception. We observed ileocolonic intussusception in an 80-year-old male patient who was admitted to the hospital with a complaint of abdominal pain and palpable mass on right lower quadrant. The laparoscopic ileocecectomy was performed by the emergency operation because of obstruction. The pathologic examination revealed that the epithelioid LMS developed in the terminal ileum was the leading point of intussusception. To the best of our knowledge, laparoscopic surgery for ileocolonic intussusception with epithelioid LMS has not yet been reported.
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Ectopic thymic neoplasm, particularly ectopic thymic carcinoma, is a rare disease that presents as a neck mass. Here, we present a case of ectopic thymic squamous carcinoma in a 65-year-old man who presented with persistent hoarseness. After fine needle aspiration cytology, the patient underwent total thyroidectomy with lymph node dissection. The final histopathological examination revealed the ectopic thymic squamous carcinoma. The patient was discharged without any postoperative complications. The patient received adjuvant radiation therapy and did not progress during the 1-year follow-up period.
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PURPOSE: To evaluate clinical outcomes of idiopathic epiretinal membrane removal in patients ≥ 80 years of age.METHODS: A retrospective review of medical records was performed with 56 patients who underwent vitrectomy and removal of idiopathic epiretinal membrane. In the ≥ 80 years of age group (n = 28), the best-corrected visual acuity (BCVA) and central macular thickness (CMT) before surgery were compared with those at the final follow-up. The amount of change in the BCVA after surgery was also compared between the ≥ 80 years of age group and the < 80 years of age group (n = 28).RESULTS: In the ≥ 80 years of age group, the mean follow-up period was 19.1 ± 17.0 months. Before surgery, 11 eyes were pseudophakic and 17 eyes were phakic. Combined cataract surgery was performed with epiretinal membrane removal in all 17 phakic eyes. The mean logarithm of the minimal angle of resolution BCVA was 0.75 ± 0.30 before surgery, which improved to 0.50 ± 0.30 at the final follow-up (p < 0.001). The CMT was 458.0 ± 79.7 µm before surgery, which decreased to 367.2 ± 83.4 µm at the final follow-up (p < 0.001). There was no significant difference in the amount of change in the BCVA after the surgery between the ≥ 80 years of age group and the < 80 years of age group (p = 0.547).CONCLUSIONS: In patients with idiopathic epiretinal membrane who were ≥ 80 years of age, the visual acuity was improved or maintained, and was accompanied with anatomical improvement after epiretinal membrane removal with or without cataract surgery. These results suggest the usefulness of epiretinal membrane removal in older patients.
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Humanos , Catarata , Membrana Epirretiniana , Seguimentos , Prontuários Médicos , Estudos Retrospectivos , Acuidade Visual , VitrectomiaRESUMO
Purpose@#A novel resection method, namely, laparoscopic local resection through subserosal dissection with endoscopic air-insuff lation (LRSDEA) was used for submucosal tumors located near the esophagogastric junction (SMT-EGJ) to avoid major gastric resection. @*Methods@#A total of 9 cases underwent LRSDEA. We sequentially performed: laparoscopic dissections around EGJ, subserosal dissections around SMTs using laparoscopic electrocautery and ultrasonic shears, and finally, enucleation of SMTs. During these procedures, intraoperative endoscopic tumor localization, as well as endoscopic air-insufflation allowed for safe resection. These procedures are shown in the supplementary video clip. The clinicopathological characteristics and surgical results were analyzed. @*Results@#All laparoscopic procedures were successfully performed without requiring a major gastrectomy.The mean operation time was 126.1 minutes, and estimated blood loss was 12.0 ml. There were no postoperative complications. Pathological diagnoses were 6 leiomyomas, 2 gastrointestinal stromal tumors, and 1 gastric duplication. @*Conclusion@#LRSDEA is an effective and safe treatment option for SMT-EGJ, as major resection of the stomach is avoided.
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Objectives@#This study aims to compare attitude toward suicide among the elderly with suicide attempt, suicide ideation, and without suicide ideation and attempt. @*Methods@#We recruited study groups according to suicide risk. Suicide attempt/ideation group were recruited from Busan Regional Suicide Prevention Center. Control group was recruited from general population. Suicide attempt group was those who attempted suicide within 6 months prior to study participation. Suicide ideation group was those who had suicide ideation within 6 months prior to study participation but did not have lifetime history of suicide attempt. Control group was those who did not have either lifetime history of suicide ideation and attempt. Attitude toward suicide was evaluated by Korean version of Attitude Toward Suicide-20 (ATTS-20) Questionnaire. @*Results@#Total of 141 elderly people aged over 60 were recruited. Four subscale scores of ATTS-20 (permissiveness and nonintervention; preventability and incomprehensibility; universality; unpredictability) were significantly lower in the suicide attempt group than suicide ideation and control group. @*Conclusion@#The results of present study suggest that the elderly who had history of suicide attempt are more permissive toward and have lack of comprehension of suicide. These results can be useful to develop effective suicide intervention and prevention strategy for the elderly.
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Purpose@#A novel resection method, namely, laparoscopic local resection through subserosal dissection with endoscopic air-insuff lation (LRSDEA) was used for submucosal tumors located near the esophagogastric junction (SMT-EGJ) to avoid major gastric resection. @*Methods@#A total of 9 cases underwent LRSDEA. We sequentially performed: laparoscopic dissections around EGJ, subserosal dissections around SMTs using laparoscopic electrocautery and ultrasonic shears, and finally, enucleation of SMTs. During these procedures, intraoperative endoscopic tumor localization, as well as endoscopic air-insufflation allowed for safe resection. These procedures are shown in the supplementary video clip. The clinicopathological characteristics and surgical results were analyzed. @*Results@#All laparoscopic procedures were successfully performed without requiring a major gastrectomy.The mean operation time was 126.1 minutes, and estimated blood loss was 12.0 ml. There were no postoperative complications. Pathological diagnoses were 6 leiomyomas, 2 gastrointestinal stromal tumors, and 1 gastric duplication. @*Conclusion@#LRSDEA is an effective and safe treatment option for SMT-EGJ, as major resection of the stomach is avoided.
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PURPOSE: Whether subtotal or total colectomy with primary anastomosis (PA) is safer than Hartmann procedure (HP) for left-sided colon cancer obstruction or perforation remains controversial. The purpose of this study was to compare postoperative morbidity, mortality, and defecation frequency between PA and HP for left-sided colon cancer obstruction or perforation.METHODS: This retrospective study enrolled 54 patients from January 2014 to February 2018 who underwent emergency surgery due to left-sided colon cancer obstruction or perforation.RESULTS: PA was carried out in 20 patients while HP was performed for 34 patients. Thirty-day mortality did not show significant difference between the two groups (15.0% vs. 14.7%, P=1.000). No anastomotic leakage occurred in PA group while three (8.8%) cases of stump leakage occurred in HP group. Stoma repair was performed for 13 cases (44.8%) and stoma reformation was performed for one case in HP group (7.7%). Stoma related complications occurred in five cases (17.24%). For patients after stoma repair, defecation frequency at 3 months after operation was 2.91±2.88 times per day in PA group and 2.86±2.63 times per day in HP group. At 1 year after operation, defecation frequency was changed to 1.40±1.12 times per day in PA group and 1.17±0.39 times per day in HP group.CONCLUSION: Primary ileosigmoid or ileorectal anastomosis for left-sided colon cancer obstruction or perforation is safe, and shows similar outcome of defecation frequency compared to HP.
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Humanos , Fístula Anastomótica , Colectomia , Colo , Neoplasias do Colo , Defecação , Emergências , Mortalidade , Estudos RetrospectivosRESUMO
OBJECTIVE: This study aims to investigate differences between the elderly living alone and those living with others in frustrated interpersonal needs and life satisfaction. Also, we explore the effects of frustrated interpersonal needs on life satisfaction in the elderly living alone. METHODS: The participants include 572 elderly people aged over 60 in Busan, Korea. Life satisfaction were evaluated by the Life Satisfaction Self-Rating Scale (LSRS) and frustrated interpersonal needs were measured by the Interpersonal Needs Questionnaire-Revised (INQ-R). RESULTS: The overall LSRS scores were significantly lower in the elderly living alone (106.2±20.1) than living with others (115.3±13.9, p<0.001). The total INQ-R score was significantly lower in the elderly living alone (73.8±12.1) than those living with others (76.9±12.0, p<0.05). As a result of multiple regression analysis, we came to know that frustrated interpersonal needs were factors affecting life satisfaction in living alone group. CONCLUSION: The results of present study suggest that the elderly living alone are more likely to have poor life satisfaction and frustrated interpersonal needs. Also, frustrated interpersonal needs are related to life satisfaction. Thus, it is necessary to establish the social support system such as social isolation prevention and interpersonal relationship development.
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Idoso , Humanos , Coreia (Geográfico) , Isolamento SocialRESUMO
PURPOSE: This study was designed to retrospectively identify prognostic factors of survival among breast cancer patients with 10 or more metastatic lymph nodes (LNs).METHODS: The study included 58 patients with 10 or more metastatic LNs who received standard treatment from January 2005 to December 2015. To identify the prognostic factors, we analyzed the difference of disease-free survival (DFS) according to clinicopathologic factors.RESULTS: The 5-year DFS and overall survival rates in all patients were 55% and 69%, respectively. Tumor size, number of metastatic LNs and ratio of metastatic to total LNs were associated with poorer prognosis. DFS was significantly poorer in patients with >15 than ≤15 metastatic LNs (hazard ratio [HR], 4.60; 95% confidence interval [CI], 1.38–15.32) and with LN ratio >0.64 than ≤0.64 (HR, 26.13; 95% CI, 3.16–215.80) A scoring system based on these factors was significantly prognostic of survival outcomes.CONCLUSION: This study identified factors of survival in breast cancer patients with extensive LN metastasis. Patients with unfavorable factors may require modified management to improve their clinical outcomes.
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Humanos , Neoplasias da Mama , Mama , Intervalo Livre de Doença , Linfonodos , Metástase Linfática , Metástase Neoplásica , Prognóstico , Estudos Retrospectivos , Taxa de SobrevidaRESUMO
PURPOSE: We investigated the long-term oncologic outcomes of laparoscopic gastrectomy (LG) and open gastrectomy (OG) for advanced gastric cancer (AGC) with a 5-year follow-up period.METHODS: Clinical data of 180 patients (109 LG and 71 OG) who underwent radical D2 gastrectomy for AGC at Gyeongsang National University Hospital between 2007 and 2009 were included. Survivals and predictors of these outcomes were analyzed.RESULTS: The mean follow-up period was 54.3 months. Recurrence was observed in 68 patients (37.8%). The 5-year disease-free survival (DFS) rate was 52.2% for all patients, 39.4% in the OG group, and 60.6% in the LG group. The 5-year DFS rates for OG and LG with respect to pathological stage were stage I, 87.5% and 84.2%, respectively (P=0.684); stage II, 55.0% and 77.3%, respectively (P=0.032); and stage III, 23.3% and 34.8%, respectively (P=0.265). The 5-year overall survival (OS) rate was 52.8% for all patients, 40.8% in the OG group, and 60.6% in the LG group. The 5-year OS rates for OG and LG with respect to pathological stage were stage I, 87.5% and 84.2%, respectively (P=0.753); stage II, 55.0% and 77.3%, respectively (P=0.034); and stage III, 25.6% and 34.8%, respectively (P=0.302). For survival, TMN cancer stage was statistically independent prognostic factors.CONCLUSION: Our analysis revealed that LG for AGC had acceptable long-term oncologic outcomes comparable to the outcomes of conventional OG. Cancer stage was independent risk factors associated with survival.
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Humanos , Estudos de Coortes , Intervalo Livre de Doença , Seguimentos , Gastrectomia , Recidiva , Estudos Retrospectivos , Fatores de Risco , Neoplasias GástricasRESUMO
OBJECTIVES@#We report a case of pure epidural cavernous hemangioma located at the thoracolumbar spine in a 53-year-old woman that mimicked a neurogenic tumor on magnetic resonance imaging (MRI).SUMMARY OF LITERATURE REVIEW: A pure spinal epidural cavernous hemangioma without bony involvement is a very rare lesion about which limited information is available in the literature.@*MATERIALS AND METHODS@#A 53-year-old woman visited our clinic for hypoesthesia with a tingling sensation in the left anterolateral thigh that had begun a month ago. No other neurologic symptoms or signs were present upon a neurologic examination. MRI from an outside hospital showed a 2.0×0.5 cm elongated mass at the T11-12 left neural foramen. The tumor was completely removed in piecemeal fashion.@*RESULTS@#The histopathologic examination revealed a cavernous hemangioma, which was the final diagnosis. The outcome was favorable in that only operation-related mild back pain remained, without any neurologic deficits, after a postoperative follow-up of 2 years and 3 months. No recurrence was observed on MRI at 2 years postoperatively.@*CONCLUSION@#Pure epidural spinal cavernous hemangioma is very rare, and it is very difficult to differentiate from other epidural lesions. However, we believe that it should be included in the differential diagnosis of spinal epidural tumors due to its favorable prognosis.
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STUDY DESIGN: Case report. OBJECTIVES: We report a case of pure epidural cavernous hemangioma located at the thoracolumbar spine in a 53-year-old woman that mimicked a neurogenic tumor on magnetic resonance imaging (MRI). SUMMARY OF LITERATURE REVIEW: A pure spinal epidural cavernous hemangioma without bony involvement is a very rare lesion about which limited information is available in the literature. MATERIALS AND METHODS: A 53-year-old woman visited our clinic for hypoesthesia with a tingling sensation in the left anterolateral thigh that had begun a month ago. No other neurologic symptoms or signs were present upon a neurologic examination. MRI from an outside hospital showed a 2.0×0.5 cm elongated mass at the T11-12 left neural foramen. The tumor was completely removed in piecemeal fashion. RESULTS: The histopathologic examination revealed a cavernous hemangioma, which was the final diagnosis. The outcome was favorable in that only operation-related mild back pain remained, without any neurologic deficits, after a postoperative follow-up of 2 years and 3 months. No recurrence was observed on MRI at 2 years postoperatively. CONCLUSION: Pure epidural spinal cavernous hemangioma is very rare, and it is very difficult to differentiate from other epidural lesions. However, we believe that it should be included in the differential diagnosis of spinal epidural tumors due to its favorable prognosis.
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Feminino , Humanos , Pessoa de Meia-Idade , Dor nas Costas , Diagnóstico , Diagnóstico Diferencial , Neoplasias Epidurais , Seguimentos , Hemangioma Cavernoso , Hipestesia , Imageamento por Ressonância Magnética , Exame Neurológico , Manifestações Neurológicas , Prognóstico , Recidiva , Sensação , Coluna Vertebral , Coxa da Perna , Vértebras TorácicasRESUMO
Duplicated gallbladder (GB) is a rare congenital disease. Surgical management of a duplicated GB needs special care because of concurrent bile duct anomalies and the risk of injuring adjacent arteries during surgery. An 80-year-old man visited an emergency room with right upper quadrant abdominal pain. Computed tomography (CT) revealed cholecystitis with a 2-bodied GB. Because of this unusual finding, magnetic resonance choledochopancreatography was performed to detect possible biliary anomalies. The 2 GB bodies were unified at the neck with a common cystic duct, a so-called V-shaped duplicated GB. The patient's right posterior hepatic duct joined the common bile duct (CBD) near the cystic duct. The patient underwent laparoscopic cholecystectomy without adjacent organ injury, and was discharged uneventfully. Surgeons should carefully evaluate the patient preoperatively and select adequate surgical procedures in patients with suspected duplicated GB because of the risk of concurrent biliary anomalies.
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Idoso de 80 Anos ou mais , Humanos , Dor Abdominal , Artérias , Ductos Biliares , Colecistectomia , Colecistectomia Laparoscópica , Colecistite , Colecistite Aguda , Ducto Colédoco , Ducto Cístico , Serviço Hospitalar de Emergência , Vesícula Biliar , Ducto Hepático Comum , Laparoscopia , Pescoço , Direitos do Paciente , CirurgiõesRESUMO
The National Health Information Standards Committee was established in 2004 in Korea. The practical subcommittee for laboratory test terminology was placed in charge of standardizing laboratory medicine terminology in Korean. We aimed to establish a standardized Korean laboratory terminology database, Korea-Logical Observation Identifier Names and Codes (K-LOINC) based on former products sponsored by this committee. The primary product was revised based on the opinions of specialists. Next, we mapped the electronic data interchange (EDI) codes that were revised in 2014, to the corresponding K-LOINC. We established a database of synonyms, including the laboratory codes of three reference laboratories and four tertiary hospitals in Korea. Furthermore, we supplemented the clinical microbiology section of K-LOINC using an alternative mapping strategy. We investigated other systems that utilize laboratory codes in order to investigate the compatibility of K-LOINC with statistical standards for a number of tests. A total of 48,990 laboratory codes were adopted (21,539 new and 16,330 revised). All of the LOINC synonyms were translated into Korean, and 39,347 Korean synonyms were added. Moreover, 21,773 synonyms were added from reference laboratories and tertiary hospitals. Alternative strategies were established for mapping within the microbiology domain. When we applied these to a smaller hospital, the mapping rate was successfully increased. Finally, we confirmed K-LOINC compatibility with other statistical standards, including a newly proposed EDI code system. This project successfully established an up-to-date standardized Korean laboratory terminology database, as well as an updated EDI mapping to facilitate the introduction of standard terminology into institutions.
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PURPOSE: Germline mutations in the BRCA1 and BRCA2 genes confer increased risks for breast cancers. However, the clinical presentation of breast cancer among women who are carriers of the BRCA1 or BRCA2 (BRCA1/2 carriers) mutations is heterogenous. We aimed to identify the effects of the reproductive histories of women with the BRCA1/2 mutations on the clinical presentation of breast cancer. METHODS: We retrospectively analyzed clinical data on women with proven BRCA1 and BRCA2 mutations who were recruited to the Korean Hereditary Breast Cancer study, from 2007 to 2014. RESULTS: Among the 736 women who were BRCA1/2 mutation carriers, a total of 483 women had breast cancers. Breast cancer diagnosis occurred at significantly younger ages in women who experienced menarche at ≤14 years of age, compared to those who experienced menarche at >14 years of age (37.38±7.60 and 43.30±10.11, respectively, p<0.001). Additionally, the number of full-term pregnancies was significantly associated with the age of diagnosis, especially in women with the BRCA2 mutation. The prevalence of advanced stages (stage II or III vs. stage I) of disease in parous women was higher than in nulliparous women (68.5% vs. 55.2%, p=0.043). This association was more pronounced in women with the BRCA2 mutation (hazard ratio, 2.67; p=0.014). CONCLUSION: Our results suggest that reproductive factors, such as the age of onset of menarche and the presence of parity, are associated with the clinical presentation patterns of breast cancer in BRCA1/2 mutation carriers.