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Purpose@#The purpose of this study was to investigate the concordance rate of PIK3CA mutations between primary and matched distant metastatic sites in patients with breast cancer and to verify whether there are differences in the frequency of PIK3CA hotspot mutations depending on the metastatic sites involved. @*Materials and Methods@#Archived formalin-fixed paraffin-embedded (FFPE) specimens of primary breast and matched distant metastatic tumors were retrospectively obtained for 49 patients. Additionally, 40 archived FFPE specimens were independently collected from different breast cancer metastatic sites, which were limited to three common sites: the liver, brain, and lung. PIK3CA mutations were analyzed using droplet digital PCR, including hotspots involving exons 9 and 20. @*Results@#After analysis of 49 breast tumors with matched metastasis sites, 87.8% showed concordance in PIK3CA mutation status. According to PIK3CA hotspot mutation testing in 89 cases of breast cancer metastatic sites, the proportion of PIK3CA mutations at sites of metastasis involving the liver, brain, and lung was 37.5%, 28.6%, and 42.9%, respectively, which did not result in statistical significance. @*Conclusion@#The high concordance of PIK3CA mutation status between primary and matched metastasis sites suggests that metastatic sites, regardless of the metastatic organ, could be considered sample sources for PIK3CA mutation testing for improved therapeutic strategies in patients with metastatic breast cancer.
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Purpose@#NUT carcinoma (NC) is a solid tumor caused by the rearrangement of NUTM1 that usually develops in midline structures, such as the thorax. No standard treatment has been established despite high lethality. Thus, we investigated whether targeting the junction region of NUTM1 fusion breakpoints could serve as a potential treatment option for NC. @*Materials and Methods@#We designed and evaluated a series of small interfering RNAs (siRNAs) targeting the junction region of BRD4-NUTM1 fusion (B4N), the most common form of NUTM1 fusion. Droplet digital polymerase chain reaction using the blood of patients was also tested to evaluate the treatment responses by the junction sequence of the B4N fusion transcripts. @*Results@#As expected, the majority of NC fusion types were B4N (12 of 18, 67%). B4N fusion-specific siRNA treatment on NC cells showed specific inhibitory effects on the B4N fusion transcript and fusion protein without affecting the endogenous expression of the parent genes, resulting in decreased relative cell growth and attenuation of tumor size. In addition, the fusion transcript levels in platelet-rich-plasma samples of the NC patients with systemic metastasis showed a negative correlation with therapeutic effect, suggesting its potential as a measure of treatment responsiveness. @*Conclusion@#This study suggests that tumor-specific sequences could be used to treat patients with fusion genes as part of precision medicine for a rare but deadly disease.
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Bruxism is defined as a parafunctional activity during sleep or while awake that includes locking and grinding of teeth and clenching. It generates excessive occlusal force that may lead to implant failure. Therefore, diagnosis of bruxism and providing specific protocols such as occlusal splint and/or injection of botulinum toxin before implant installation are important to prevent increases the risk of implant failure in bruxism patients.
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Pneumomediastinum is a very rare and potentially catastrophic complication of dental procedures. Its common causes are tooth extraction, endodontic treatment, and subgingival curettage using handpieces and high-pressure air/water syringes. We present a case of massive pneumomediastinum with subcutaneous emphysema in a 61-year-old female who underwent bone grafting into the maxilla for pretreatment of dental implantation using a syringe. The patient suffered from abrupt severe odynophagia and loss of consciousness. The patient transferred to emergency department and images work-up revealed a pneumomediastinum and subcutaneous emphysema on the entire face and neck. We performed conservative treatments including prophylactic antibiotics, oxygen inhalation, and fasting meals, and then discharge after 7 days uneventfully. The patient’s syncope might be resulting from hypotension and pain shock induced by pneumomediastinum with a sudden chest compression. The pneumomediastinum could be resulting from concurrent perforation and massive air infiltration into the maxillary sinus during bone grafting. We suggest that pneumomediastinum needs prompt diagnosis and management because of the risk of airway obstruction when a patient present syncope in the dental room.
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Bruxism is defined as a parafunctional activity during sleep or while awake that includes locking and grinding of teeth and clenching. It generates excessive occlusal force that may lead to implant failure. Therefore, diagnosis of bruxism and providing specific protocols such as occlusal splint and/or injection of botulinum toxin before implant installation are important to prevent increases the risk of implant failure in bruxism patients.
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This study aimed to investigate the relationship between meal regularity (i.e. breakfast intake and meal-times), and the risk of metabolic syndrome (MetS) among generally healthy Korean single-person household adults (≤60 years, n=594) based on the Seventh Korean National Health Examination and Nutrition Survey (KNHANES) (2016∼2018).Among men (n=325), the breakfast intake frequency was not significantly associated with the pervalence of MetS. However, men consuming a regular meal at least once a day showed a lower prevalence of MetS compared to those whose meals were irregular. These patterns remained after adjusting for age, smoking and drinking habits, individual income, education level, exercise, and total calorie intake. An association between meal regularity and MetS risk was observed in post-menopausal women (n=84), but not in pre-menopausal women (n=185). More specifically post-menopausal women with irregular breakfast eating habits or eating no breakfast at all showed a significantly higher risk of MetS than those eating breakfast regularly after the adjustment. The analysis revealed an odds ratio (OR) of 8.46, confidence intervals (CIs): 1.149∼62.199, P＜0.05 in irregular breakfast eaters, and an OR of 13.377, CIs: 1.665∼ 107.511, P＜0.05, in those who ate no breakfast. Furthermore, post-menopausal women who had irregular meals daily showed a higher risk of MetS than those consuming one or more regular meals/day after the adjustment (OR:16.888, CIs: 1.258∼226.655, P＜0.05). In conclusion, the results from this study may be used for formulating optimal dietary guidelines for the prevention and the management of MetS in adults in single-person households.
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Purpose@#To find biomarkers for disease, there have been constant attempts to investigate the genes that differ from those in the disease groups. However, the values that lie outside the overall pattern of a distribution, the outliers, are frequently excluded in traditional analytical methods as they are considered to be ‘some sort of problem.’ Such outliers may have a biologic role in the disease group. Thus, this study explored new biomarker using outlier analysis, and verified the suitability of therapeutic potential of two genes (TM4SF4 and LRRK2). @*Materials and Methods@#Modified Tukey’s fences outlier analysis was carried out to identify new biomarkers using the public gene expression datasets. And we verified the presence of the selected biomarkers in other clinical samples via customized gene expression panels and tissue microarrays. Moreover, a siRNA-based knockdown test was performed to evaluate the impact of the biomarkers on oncogenic phenotypes. @*Results@#TM4SF4 in lung cancer and LRRK2 in breast cancer were chosen as candidates among the genes derived from the analysis. TM4SF4 and LRRK2 were overexpressed in the small number of samples with lung cancer (4.20%) and breast cancer (2.42%), respectively. Knockdown of TM4SF4 and LRRK2 suppressed the growth of lung and breast cancer cell lines. The LRRK2 overexpressing cell lines were more sensitive to LRRK2-IN-1 than the LRRK2 under-expressing cell lines @*Conclusion@#Our modified outlier-based analysis method has proved to rescue biomarkers previously missed or unnoticed by traditional analysis showing TM4SF4 and LRRK2 are novel target candidates for lung and breast cancer, respectively.
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Purpose@#This study was to investigate the operational status of the midwifery birthing centers (MBCs) and midwives’ job status (Phase 1) and to develop midwifery practice guidelines (MPG) (Phase 2) in Korea. @*Methods@#In the first phase, the subjects were 15 midwives who operated 11 of 14 MBCs that were opened as of August 2018. The questionnaire consisted of items to measure the operational status of the MBC and midwives’ job status. In the second phase, the MPG was developed from literature review, interviews with five midwives opening their MBCs, surveys with 74 midwives, and a validity evaluation conducted by seven experts. @*Results@#The distribution of operating MBCs was five in Gyunggi-do, two each in Seoul and Incheon, one each in Busan, Chungcheongbuk-do, Gyeongsangbuk-do, Gyeongsangnam-do and Jeju-do. The mean age of midwives was 54.3 and all were female. In 2017, a total of 762 births including 81 homebirths were performed by midwives. The job performance was highest in the order of neonatal care 3.81, childbirth care 3.56, and postpartal care 3.53, respectively. The MPG included seven areas of prenatal care, childbirth care, postpartal care, neonatal care, primary health care, law/ ethics, and administration, with 56 tasks and 166 task elements. @*Conclusion@#This study provides the valid basic data for the operational status of the MBC and the midwives’ job status. The MPG describes the midwife’s job and may be used as basic data for preparing policies for the development of midwifery practice in Korea.
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Ameloblastoma is a benign neoplasm originating from odontogenic epithelium. It is the most common neoplasm in the jaws and is characterized by aggressive behavior and local invasion. Unicystic ameloblastoma (UA) has a unilocular feature in radiologic examination and a cystic feature histologically. Decompression and marsupialization are conservative method of treatment of large UA. The purpose of decompression and marsupialization are size reduction of the mass, which makes it easy to handle at total enucleation with protection of nerve damage and facial deformity. Here we report successful conservative treatment of extensive UA using decompression and marsupialization with a review of literatures.
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Ameloblastoma , Anomalías Congénitas , Descompresión , Epitelio , Maxilares , MétodosRESUMEN
PURPOSE: The discoidin domain-containing receptor tyrosine kinase 2 (DDR2) is known to contain mutations in a small subset of patients with squamous cell carcinomas (SCC) of the lung. Studying the DDR2 mutations in patients with SCC of the lung would advance our understanding and guide the development of therapeutic strategies against lung cancer. MATERIALS AND METHODS: We selected 100 samples through a preliminary genetic screen, including specimens from biopsies and surgical resection, and confirmed SCC by histologic examination. DDR2 mutations on exons 6, 15, 16, and 18 were analyzed by Sanger sequencing of formalin-fixed, paraffin-embedded tissue samples. The functional effects of novel DDR2 mutants were confirmed by in vitro assays. RESULTS: We identified novel somatic mutations of DDR2 in two of the 100 SCC samples studied. One mutation was c.1745T>A (p.V582E) and the other was c.1784T>C (p.L595P), and both were on exon 15. Both patients were smokers and EGFR/KRAS/ALK-triple negative. The expression of the mutant DDR2 induced activation of DDR2 by the collagen ligand and caused enhanced cell growth and tumor progression. Moreover, dasatinib, a DDR2 inhibitor, showed potential efficacy against DDR2 L595P mutant–bearing cells. CONCLUSION: Our results suggest that a mutation in DDR2 occurs naturally with a frequency of about 2% in Korean lung SCC patients. In addition, we showed that each of the novel DDR2 mutations were located in a kinase domain and induced an increase in cell proliferation rate.
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Humanos , Biopsia , Carcinoma de Células Escamosas , Proliferación Celular , Colágeno , Dasatinib , Células Epiteliales , Exones , Técnicas In Vitro , Neoplasias Pulmonares , Pulmón , Fosfotransferasas , Prevalencia , Proteínas Tirosina Quinasas , TYK2 Quinasa , TirosinaRESUMEN
Biliary atresia (BA) is a major cause of extrahepatic biliary obstruction in children. Malnutrition is a significant clinical problem in children with BA. BA may induce the malabsorption of fat and fat-soluble vitamins, resulting in cholestasis and an impaired nutritional status. For the treatment of BA, it is most important to reconstruct the bile flow as early as possible by performing a Kasai portoenterostomy. After the Kasai operation, growth and nutrition are restored, but to follow normal growth and development, it is necessary to evaluate the nutritional status and support. Therefore, the purpose of nutritional support in children with BA is to normalize growth and development, prevent further liver damage and deterioration of the patient's nutritional status, avoid vitamin and mineral deficiencies, and improve the quality of life of patients.
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Niño , Humanos , Avitaminosis , Bilis , Atresia Biliar , Colestasis , Crecimiento y Desarrollo , Hígado , Desnutrición , Mineros , Estado Nutricional , Apoyo Nutricional , Calidad de Vida , VitaminasRESUMEN
OBJECTIVE: We assessed the cumulative conversion rates (CCR) from minor cognitive impairment (MCI) to dementia among individuals who failed to participate in annual screening for dementia. Additionally, we analyzed the reasons for failing to receive follow-up screening in order to develop better strategies for improving follow-up screening rates. METHODS: We contacted MCI patients who had not visited the Dongdaemun-gu Center for Dementia for annual screening during the year following their registration. We compared the CCR from MCI to dementia in the following two groups: subjects registered as having MCI in the Dongdaemun-gu Center for Dementia database and subjects who failed to revisit the center, but who participated in a screening test for dementia after being contacted. The latter participants completed a questionnaire asking reasons for not previously visiting for follow-up screening. RESULTS: The final diagnoses of the 188 subjects who revisited the center only after contact were 19.1% normal, 64.9% MCI and 16.0% dementia. The final diagnoses of the 449 subjects in the Dongdaemun-gu Center for Dementia database were 25.6% normal, 46.1% MCI and 28.3% dementia. The CCR of the revisit-after-contact group was much lower than anticipated. The leading cause for noncompliance was “no need for tests” at 28.2%, followed by “other reasons” at 23.9%, and “I forgot the appointment date” at 19.7%. CONCLUSION: Considering the low dementia detection rate of the group who revisited only after contact and the reasons they gave for noncompliance, there appears to be a need for ongoing outreach and education regarding the course and prognosis of MCI.
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Humanos , Trastornos del Conocimiento , Demencia , Diagnóstico , Educación , Estudios de Seguimiento , Tamizaje Masivo , Disfunción Cognitiva , PronósticoRESUMEN
Malignant lymphomas are neoplasms with diffuse proliferation of neoplastic lymphocytes and their precursor cells. Diffuse large B-cell lymphoma, which is a subtype of non-Hodgkin's lymphomas, rarely occurs in the head and neck area and is especially rare in the maxillary sinus. We report a case of a 76-year-old female patient who was referred to the oral and maxillofacial surgery office for evaluation of a dental abscess as a clinical diagnosis. Laboratory tests revealed no signs of inflammation or infection; therefore, incisional biopsy was performed. The final diagnosis was diffuse large B-cell lymphoma in the maxillary sinus. Here we describe this case with a review of relevant literature.
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Anciano , Femenino , Humanos , Absceso , Biopsia , Diagnóstico , Cabeza , Inflamación , Linfocitos , Linfoma , Linfoma de Células B , Linfoma no Hodgkin , Seno Maxilar , Cuello , Cirugía BucalRESUMEN
OBJECTIVES: The author tried to find out reasons why and how hysteria(and conversion disorder) patient numbers, which were so prevalent even a few decades ago, have decreased and the phenotype of symptoms have changed. METHODS: The number of visiting patients diagnosed with conversion disorder and their phenotype of symptoms were investigated through chart reviews in a psychiatric department of a University hospital for the last 12 years. Additionally, the characteristics of conversion disorder patients visiting the emergency room for last 2 years were also reviewed. Those results were compared with previous research results even if it seemed to be an indirect comparisons. The research relied on Briquet P. and Charcot JM's established factors of the vicissitudes of hysteria(and conversion disorder) which has been the framework for more than one hundred and fifty years since hysteria has been investigated. RESULTS: The author found decreased numbers and changes of the phenotype of the hysteria patients(and conversion disorder) over the last several decades. The decreased numbers and changes of the symptoms of those seemed to be partly due to several issues. These issues include the development of the diagnostic techniques to identify organic causes of hysteria, repeated changes to the symptom descriptions and diagnostic classification, changes of the brain nervous functions in response to negative emotions, and the influence of human evolution. CONCLUSIONS: The author proposed that the evolutionary brain discord reaction theory explains the causes of disappearance of and changes to symptoms of hysteria(conversion disorder). Most patients with hysteria(conversion disorder) have been diagnosed in the neurological department. For providing more appropriate treatment and minimizing physical disabilities to those patients, psychiatrists should have a major role in cooperating not only with primary care physicians but with neurologists. The term 'hysteria' which had been used long ago should be revived and used as a term to describe diseases such as somatic symptom disorder, functional neurological symptoms, somatization, and somatoform disorders, all of which represent almost the same vague concept as hysteria.
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Humanos , Encéfalo , Clasificación , Trastornos de Conversión , Servicio de Urgencia en Hospital , Histeria , Fenotipo , Médicos de Atención Primaria , Psiquiatría , Trastornos SomatomorfosRESUMEN
Adenoid cystic carcinoma (ACC) of the sublingual gland is an extremely rare neoplasm. The clinicopathological characteristics of ACC are slow-growing swelling with or without ulceration, perineural spread, local recurrence, and distant metastasis. This report describes a 58-year-old male who had a slowly growing swelling without ulceration on the right side of the mouth floor that had been present for 1 month. In a radiological examination, the mass showed multilocular cystic features and no bony or tongue muscle invasion. No enlarged cervical lymph nodes were detected. Excisional biopsy and histological analysis showed that the lesion was ACC. In addition to reporting a rare case of ACC, this report also discusses the differential diagnosis and treatment of ACC with a review of the relevant literature.
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Humanos , Masculino , Persona de Mediana Edad , Tonsila Faríngea , Biopsia , Carcinoma Adenoide Quístico , Diagnóstico Diferencial , Ganglios Linfáticos , Suelo de la Boca , Metástasis de la Neoplasia , Recurrencia , Glándulas Salivales , Glándula Sublingual , Lengua , ÚlceraRESUMEN
Stafne bone cyst (SBC) is a bone defect usually located in the posterior portion of the mandible or mandibular angle below the inferior alveolar nerve. The cases of SBC involving multiple anterior tooth apices and penetrating the mandibular bone are extremely rare. Here we present a case of an anterior-positioned SBC mimicking periapical cyst, which penetrated the mandibular bone, with a review of the differential diagnosis.
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Quistes Óseos , Diagnóstico Diferencial , Mandíbula , Nervio Mandibular , Quiste Radicular , Ápice del DienteRESUMEN
Primary cardiac osteosarcoma is extremely rare. We herein report a case involving a 31-year-old woman with a 2-week history of left upper trunk pain and hemoptysis. She was diagnosed with primary cardiac osteosarcoma with pulmonary vein obstruction and successfully treated via surgical resection and chemotherapy.
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Adulto , Femenino , Humanos , Quimioterapia , Corazón , Neoplasias Cardíacas , Hemoptisis , Osteosarcoma , Venas PulmonaresRESUMEN
Proliferative periostitis is a rare form of osteomyelitis that is characterized by new bone formation with periosteal reaction common causes of proliferative periostitis are dental caries, periodontitis, cysts, and trauma. While proliferative periostitis typically presents as a localized lesion, in this study, we describe an extensive form of proliferative periostitis involving the whole mandibular ramus and condyle. Because the radiographic findings were similar to osteogenic sarcoma, an accurate differential diagnosis was important for proper treatment.
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Caries Dental , Diagnóstico Diferencial , Cóndilo Mandibular , Osteogénesis , Osteomielitis , Osteosarcoma , Periodontitis , PeriostitisRESUMEN
Small bowel tumors are very rare and generally malignant. As a result of the anatomical location and nonspecific manifestations of small bowel tumors, they are very difficult to diagnose. Balloon-assisted enteroscopy is a relatively noninvasive method compared to surgical resection, and allows for real-time observation, tissue confirmation with biopsy, and interventional procedures. Here, we report the case of a 69-year-old woman with a small bowel metastatic carcinoma observed with double balloon enteroscopy (DBE). She had a history of multiple cancers including ovarian cancer, bladder cancer, and breast cancer. The antegrade DBE procedure was performed before surgery for biopsy tissue confirmation. The patient underwent small bowel resection, and the final diagnosis was the same as that determined by preoperative biopsy. The final diagnosis was metastatic small bowel cancer originating from a cancer of the breast. This is the first detailed report of the preoperative diagnosis of small intestinal metastatic breast cancer by DBE.