Familial medullary thyroid carcinoma (FMTC) is caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene. An identifiable RET mutation can be detected in about 85% of FMTC families. The majority of germline mutations in FMTC have been found in exons 10 and 11 of the RET proto-oncogene, specifically within the cysteine codons 609, 611, 618, 620, and 634. We screened members of a large Korean family that had a history of FMTC by genetic analyses, and propose a therapeutic approach for managing the disorder. We report a RET mutation in exon10, codon 618 that causes substitution of a cysteine by a serine in the cysteine-rich domain of the RET receptor in a three-generation FMTC family composed of 30 members with 11 carriers. Nine of the gene carriers were clinically affected. The FMTC with cysteine RET mutations found in the Korean population is consistent with the clinical pattern reported worldwide; to date there have been no ethnic differences identified for FMTC. Our results suggest that this genetic profile might be associated with usually aggressive clinical course with regional lymph node metastasis but late onset of MTC.
Adolescent ; Adult ; Aged ; Amino Acid Substitution ; Carcinoma, Medullary/*genetics/pathology/secondary ; Exons ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Genotype ; *Germ-Line Mutation ; Humans ; Male ; Middle Aged ; Pedigree ; Proto-Oncogene Proteins c-ret/*genetics ; Republic of Korea ; Thyroid Neoplasms/*genetics/pathology

Subarachnoid hemorrhage (SAH) usually occurs due to aneurysmal rupture of intracranial arteries and its typical computed tomography (CT) findings are increased attenuation of cisterns and subarachnoid spaces. However, several CT findings mimicking SAH are feasible in diverse conditions. They are so-called as pseudo-SAH, and this report is a case of pseudo-SAH which is misdiagnosed as aneurysm rupture accompanied by bilateral chronic subdural hematoma (cSDH). A 42-year-old male with severe headache visited our institute. Non-contrast brain CT images showed increased attenuation on basal cistern, and cSDH on both fronto-temporo-parietal convexity with midline shifting. Trans-femoral cerebral angiography was done and we confirmed small aneurysm at right M1 portion of middle cerebral artery. Under diagnosis of SAH, we planned an operation in order to clip aneurysmal neck and remove cSDH. cSDH was removed as planned, however, there was no SAH and we also couldn't find the rupture point of aneurysm. Serial follow-up CT showed mild cumulative cSDH recurrence, but the patient was tolerant and had no neurologic deficit during hospitalization. We have checked the patient via out-patient department for 6 months, there are no significant changes in volume and density of cSDH and the patient also have no neurologic complications.
Adult ; Aneurysm ; Arteries ; Brain ; Brain Edema ; Cerebral Angiography ; Diagnosis ; Follow-Up Studies ; Headache ; Hematoma, Subdural, Chronic ; Hemorrhage ; Hospitalization ; Humans ; Intracranial Hypertension ; Male ; Middle Cerebral Artery ; Neck ; Neurologic Manifestations ; Outpatients ; Recurrence ; Rupture ; Subarachnoid Hemorrhage ; Subarachnoid Space

PURPOSE: Tumor markers are often used to monitor the response to therapy and to detect recurrences in patients with resected breast cancer. Here we evaluated the prognostic value of the preoperative serum concentrations of tumor markers in patients with breast cancer. METHODS: The preoperative serum concentrations of tumor markers (CEA, CA15-3 and TPS) were measured in 670 patients who were treated via potentially curative surgical resection for breast cancer from 2001 to 2004. We investigated the association of the serum concentrations of tumor markers with the disease-free survival and overall survival at the time of the primary diagnosis in relation to the established prognostic factors such as tumor size, lymph node status, hormonal receptor status, age and menopausal status. RESULTS: The established prognostic factors and the elevated preoperative serum tumor marker values were correlated with disease-free survival (CEA: P=0.014, CA15-3: P=0.002 and TPS: P<0.001) and overall survival (CEA: P=0.045, CA15-3: P=0.002 and TPS: P<0.001) on univariate analysis. On multivariate analysis, tumor size, lymph node status, hormone receptor status and TPS (P=0.03) were independent prognostic factors for recurrence and the lymph node status, hormone receptor status and TPS serum level (P<0.001) were independent prognostic factors for overall survival. CONCLUSION: The preoperative serum concentrations of tumor makers (CEA, CA15-3 and TPS) are strong independent prognostic factors for recurrence and survival in patients with breast cancer. The tests for the preoperativeserum concentrations of tumor markers have convenient and reproducible advantages while the others require tumor tissue. Patients with elevated preoperative serum tumor marker values need appropriate adjuvant therapy, careful monitoring and detection of recurrences during the follow-up period.
Biomarkers, Tumor ; Breast Neoplasms* ; Breast* ; Diagnosis ; Disease-Free Survival ; Follow-Up Studies ; Humans ; Lymph Nodes ; Multivariate Analysis ; Prognosis ; Recurrence

BACKGROUND: The Janus kinase (Jak)/Signal transducers of activated transcription (Stat) pathway is an upstream signaling pathway for NF-kappaB activation in Helicobacter pylori-induced interleukin (IL)-8 production in gastric epithelial AGS cells. H. pylori activates NADPH oxidase and produces hydrogen peroxide, which activates Jak1/Stat3 in AGS cells. Therefore, hydrogen peroxide may be critical for IL-8 production via Jak/Stat activation in gastric epithelial cells. Glutamine is depleted during severe injury and stress and contributes to the formation of glutathione (GSH), which is involved in conversion of hydrogen peroxide into water as a cofactor for GSH peroxidase. METHODS: We investigated whether glutamine deprivation induces hydrogen peroxide-mediated IL-8 production and whether hydrogen peroxide activates Jak1/Stat3 to induce IL-8 in AGS cells. Cells were cultured in the presence or absence of glutamine or hydrogen peroxide, with or without GSH or a the Jak/Stat specific inhibitor AG490. RESULTS: Glutamine deprivation decreased GSH levels, but increased levels of hydrogen peroxide and IL-8, an effect that was inhibited by treatment with GSH. Hydrogen peroxide induced the activation of Jak1/Stat3 time-dependently. AG490 suppressed hydrogen peroxideinduced activation of Jak1/Stat3 and IL-8 expression in AGS cells, but did not affect levels of reactive oxygen species in AGS cells. CONCLUSIONS: In gastric epithelial AGS cells, glutamine deprivation increases hydrogen peroxide levels and IL-8 expression, which may be mediated by Jak1/Stat3 activation. Glutamine supplementation may be beneficial for preventing gastric inflammation by suppressing hydrogen peroxide-mediated Jak1/Stat3 activation and therefore, reducing IL-8 production. Scavenging hydrogen peroxide or targeting Jak1/Stat3 may also prevent oxidant-mediated gastric inflammation.
Epithelial Cells ; Glutamine* ; Glutathione ; Helicobacter ; Hydrogen Peroxide ; Hydrogen* ; Inflammation ; Interleukin-8* ; Interleukins ; NADPH Oxidase ; NF-kappa B ; Peroxidase ; Phosphotransferases ; Reactive Oxygen Species ; Transducers ; Water

PURPOSE: The purpose of this study was to compare accuracy of proper needle insertion angle between magnetic resonance imaging (MRI) and ultrasonography during lumbar medial branch nerve block procedure. MATERIALS AND METHODS: Between January 2015 and June 2016, 80 people who underwent MRI in the past 3 months with improved lumbar pain after sono-guided medial branch nerve block were enrolled for analysis (male, 39; female, 41; average age, 63.3 years). The insertion angle and depth between the spinous process and needle at each target points were measured at various levels (superior, inferior segment of each facet joints from L2–3 to L5–S1). The needle was positioned 1 cm apart from both lateral sides of the probe, locating spinous process in the middle. A comparative analysis was performed between an ultrasonography and an MRI. We determined the statistical correlation between the two methods. RESULTS: The average differences with respect to the distance between each level on a sono-guided medial branch nerve block were 1.28±1.07 mm in L2 (7 cases), 1.27±4.26 mm in L3 (25 cases), 1.63±5.89 mm in L4 (93 cases), 1.99±4.12 mm in L5 (141 cases), and 1.51±3.87 mm in S1 (66 cases). The average differences regarding the angle of each level were 1.69°±1.34° in L2 (7 cases), 2.03°±5.35° in L3 (25 cases), 1.49°±3.42° in L4 (93 cases), −1.55°±3.67° in L5 (141 cases), and 1.86°±4.83° in S1 (66 cases). All measurements followed a normal distribution (p < 0.05), showing statistical correlation without significant difference (p < 0.05). CONCLUSION: After measuring each level using an MRI prior to performing the procedure, a sono-guided lumbar medial branch nerve block can be performed with greater safety and efficacy, especially for beginners.
Female ; Humans ; Magnetic Resonance Imaging* ; Needles* ; Nerve Block ; Spine ; Ultrasonography* ; Zygapophyseal Joint

GLUT1 deficiency is a rare neurometabolic disorder that can be effectively treated with ketogenic diet. However, this condition is underdiagnosed due to its nonspecific, overlapping, and evolving symptoms with age. We retrospectively reviewed the clinical course of nine patients diagnosed with GLUT1 deficiency, based on SLC2A1 mutations and/or glucose concentration in cerebrospinal fluid. The patients included eight boys and one girl who initially presented with seizures (44%, 4/9) or delayed development (44%, 4/9) before 2 years of age, except for one patient who presented with apnea as a neonate. Over the clinical course, all of the children developed seizures of the mixed type, including absence seizures and generalized tonic–clonic seizures. About half (56%, 5/9) showed movement disorders such as ataxia, dystonia, or dyskinesia. We observed an evolution of phenotype over time, although this was not uniform across all patients. Only one child had microcephaly. In five patients, ketogenic diet was effective in reducing seizures and movement symptoms, and the patients exhibited subjective improvement in cognitive function. Diagnosing GLUT1 deficiency can be challenging due to the phenotypic variability and evolution. A high index of clinical suspicion in pediatric and even older patients with epilepsy or movement disorders is key to the early diagnosis and treatment, which can improve the patient's quality of life.
Apnea ; Ataxia ; Cerebrospinal Fluid ; Child ; Clothing ; Cognition ; Dyskinesias ; Dystonia ; Early Diagnosis ; Epilepsy ; Epilepsy, Absence ; Female ; Glucose ; Humans ; Infant, Newborn ; Ketogenic Diet ; Microcephaly ; Movement Disorders ; Phenotype ; Quality of Life ; Retrospective Studies ; Seizures

Objectives: With the rapid changes in society, there are more arguments for redefining dental education system. This study aimed to review and analyze the problems in the current dental education system in Korea and then propose an integrated education system based on those findings. Methods: A narrative review of the problems confronting the dental education system in Korea was carried out. Accordingly, full-text screening and specialists’ discussions were extracted from the review. The purpose of the review was to summarize the strengths and weaknesses of Korean dental education systems to offer perspectives on an integrated education system in accordance with the specialists’ opinions. Results: The results revealed that the problems of the current dental education system were identified in clinical education, basic science, and humanities and social sciences. Dental schools should provide clinical education so that dental students can be exposed to the clinical environment at an early stage and perform patient-based clinical practice. It is also imperative to encourage participation in research programs to train dental scientists, as well as to reflect on courses that can adapt to changes brought about by new technologies. It is recommended that education opportunities for integrated humanities and social sciences be provided. Conclusions It will be critical in the future for dental schools to embrace a flexible education system from various perspectives. It is vital that dental schools play a role in developing students’ critical thinking, problem-solving, and decision-making skills. Finally, as part of an integrated education system, an improvement program should be devised.

Background: The purpose of the study was to translate and linguistically validate a Korean language version of the PROMIS (K-PROMIS) for the six profile adult domains: Fatigue, Pain Intensity, Pain Interference, Physical Function, Sleep Disturbance, and Ability to Participate in Social Roles and Activities. Methods: A total of 268 items were translated into Korean according to the Functional Assessment of Chronic Illness Therapy multilingual translation methodology. Participants first completed approximately 27 to 35 items and were then interviewed to evaluate the conceptual equivalence of the translation to the original English language source.The K-PROMIS items that met the a priori threshold of ≥ 20% of respondents with comprehension difficulties in the cognitive interview. Results: 54 of the 268 items were identified as difficult items to comprehend for at least 20% of respondents in Round 1. The most frequently identified K-PROMIS domain on difficult items to comprehend was the Physical function (24.5%). Most items with linguistic difficulties were Fatigue and Physical function. Cultural difficulties were only included the Physical function and Ability to Participate in Social Roles and Activities domains. 25 of 54 items were slightly revised, and then these revised items were tested with additional six participants in Round 2, and most participants had no problems to understand modified items. Conclusion The six profile adult domains of K-PROMIS have been linguistically validated.Further psychometric validation of the K-PROMIS items will provide additional information of meaningful outcomes for chronic disease and clinical setting.

Objectives: With the rapid changes in society, there are more arguments for redefining dental education system. This study aimed to review and analyze the problems in the current dental education system in Korea and then propose an integrated education system based on those findings. Methods: A narrative review of the problems confronting the dental education system in Korea was carried out. Accordingly, full-text screening and specialists’ discussions were extracted from the review. The purpose of the review was to summarize the strengths and weaknesses of Korean dental education systems to offer perspectives on an integrated education system in accordance with the specialists’ opinions. Results: The results revealed that the problems of the current dental education system were identified in clinical education, basic science, and humanities and social sciences. Dental schools should provide clinical education so that dental students can be exposed to the clinical environment at an early stage and perform patient-based clinical practice. It is also imperative to encourage participation in research programs to train dental scientists, as well as to reflect on courses that can adapt to changes brought about by new technologies. It is recommended that education opportunities for integrated humanities and social sciences be provided. Conclusions It will be critical in the future for dental schools to embrace a flexible education system from various perspectives. It is vital that dental schools play a role in developing students’ critical thinking, problem-solving, and decision-making skills. Finally, as part of an integrated education system, an improvement program should be devised.

Background: The purpose of the study was to translate and linguistically validate a Korean language version of the PROMIS (K-PROMIS) for the six profile adult domains: Fatigue, Pain Intensity, Pain Interference, Physical Function, Sleep Disturbance, and Ability to Participate in Social Roles and Activities. Methods: A total of 268 items were translated into Korean according to the Functional Assessment of Chronic Illness Therapy multilingual translation methodology. Participants first completed approximately 27 to 35 items and were then interviewed to evaluate the conceptual equivalence of the translation to the original English language source.The K-PROMIS items that met the a priori threshold of ≥ 20% of respondents with comprehension difficulties in the cognitive interview. Results: 54 of the 268 items were identified as difficult items to comprehend for at least 20% of respondents in Round 1. The most frequently identified K-PROMIS domain on difficult items to comprehend was the Physical function (24.5%). Most items with linguistic difficulties were Fatigue and Physical function. Cultural difficulties were only included the Physical function and Ability to Participate in Social Roles and Activities domains. 25 of 54 items were slightly revised, and then these revised items were tested with additional six participants in Round 2, and most participants had no problems to understand modified items. Conclusion The six profile adult domains of K-PROMIS have been linguistically validated.Further psychometric validation of the K-PROMIS items will provide additional information of meaningful outcomes for chronic disease and clinical setting.