PURPOSE: Unclassified variants (UVs) of BRCA1 and BRCA2 genes are not defined as pathogenic for breast cancer, and their clinical significance currently remains undefined. Therefore, this study was conducted to identify potentially pathogenic UVs by comparing their prevalence between breast cancer patients and controls. MATERIALS AND METHODS: A total of 328 breast cancer patients underwent BRCA1/2 genetic screening at the National Cancer Center of Korea. Genetic variants of BRCA genes that were categorized as unclassified according to the Breast Cancer Information Core database were selected based on allelic frequency, after which candidate variants were genotyped in 421 healthy controls. We also examined family members of the study participants. Finally, the effects of amino acid substitutions on protein structure and function were predicted in silico. RESULTS: Genetic tests revealed 33 UVs in BRCA1 and 47 in BRCA2. Among 15 candidates genotyped in healthy controls, c.5339T>C in BRCA1 and c.6029T>G, c.7522G>A in BRCA2 were not detected. Moreover, the c.5339T>C variant in the BRCA1 gene was detected in four patients with a family history of breast cancer. This nonsynonymous variant (Leu1780Pro) in the BRCA1 C-terminal domain was predicted to have an effect on BRCA1 protein structure/function. CONCLUSION: This study showed that comparison of genotype frequency between cases and controls could help identify UVs of BRCA genes that are potentially pathogenic. Moreover, ourfindings suggest that c.5339T>C in BRCA1 might be a pathogenic variant for patients and their families.
Amino Acid Substitution ; BRCA1 Protein ; Breast Neoplasms* ; Breast* ; Computer Simulation ; Genes, BRCA1 ; Genes, BRCA2* ; Genetic Testing ; Genotype ; Humans ; Korea ; Prevalence

This study was conducted to identify the attributes constituting Korean social support and to validate the results of the previous study 'Search for the meaning of social support in Korean Society.' The informants were 41 Korean middle-aged women in three cities : Seoul, Dagjun and Daeku. The data were collected through indepth interviews using the interview guide from Jun. 1994 to Jun. 1995. The interview guide was developed in the simulated situations of 'Stroke attack' which expected to be in need of social support. The women were asked to answer what they felt and the appropriated terms representing the situations. Data analysis were conducted by content analysis. consequently, the Koran social support pyramid was modified as follows ; Support is the apex of the pyramid. The four sides of the pyramid are made up of 'Jung'(Bound by ties of affection, regard or shared common experience, Connectedness), Do-oom(both emotional and material help), Mi-dum(Faith or belief in) and Sa-Rang(Love). The base of the pyramid is 'yun'(the basic network of relationships in Korean culture) that connote the meaning of Eunhae(Benevolence), Euimu(duty, responsibility) and Dori(obligation).
Female ; Humans ; Middle Aged* ; Seoul ; Statistics as Topic

The ras, is a G-like protein that controls the mitogen-activated protein kinase (MAPK) pathway involved in control and differentiation of cell growth. MAPK is a key component of its signaling pathway and the aberrant activation may play an important role in the transformation process. To better understand roles of ras in the activation of MAPKs, we have established ras transformed NIH3T3 fibroblast cell line, and analyzed the MAPK module. The ras transformed cells formed numerous spikes at the edges of cells and showed loss of contact inhibition. The levels of ERK1/2 MAPKs as revealed by Western blot analysis were not significantly different between ras transformed and non-transformed cells. However, phosphorylation of ERK MAPKs and the level of MEK were significantly increased although the heavily expressed level of Raf-1, an upstream component of MAPK pathway was unchanged in ras transformed NIH3T3 cells. The sedimentation profile of the MAPK module kinases in a glycerol gradient showed the presence of a rather homogeneous species of multimeric forms of ERK1/2 and MEK as indicated by the narrow distribution peak areas. The broad sedimentation profile of the Raf-1 in a glycerol gradient may suggest possible heterologous protein complexes but the identification of interacting molecules still remains to be identified in order to understand the organization of the MAPK signal transduction pathway.
3T3 Cells ; Animal ; Cell Transformation, Neoplastic* ; Genes, ras* ; Mice ; Mitogen-Activated Protein Kinase Kinases/analysis ; Mitogen-Activated Protein Kinases/analysis ; Phosphorylation ; Protein-Serine-Threonine Kinases/analysis* ; Proto-Oncogene Proteins c-raf/analysis ; p42 MAP Kinase/analysis

Background: Interprofessional education (IPE) is important for collaboration between professionals in the team-based practices of the healthcare field. Objectives: This study aimed to examine pharmacy students across in Korea on the experience of IPE and the perceptions of the importance of interprofessional collaboration (IPC) and the need of IPE. Methods: A cross-sectional survey using a 20 questionnaire to pharmacy students nationwide was conducted from March to May 2019. Results: A total of 555 students from 32 pharmacy schools participated. They recognized that the importance of close pharmacist-medical doctor collaboration was an average of 5.38 points (out of 6 points), but the current level of pharmacist-to-medical doctor collaboration was an average of 2.51 points (out of 6 points), and the reasons for the insufficient IPC were the lack of an environment encouraging mutual cooperation (79.5%) and the psychological distance to the other professional (35.3%). They perceived the necessity of IPE between pharmacistmedical doctor was 4.95 points (out of 6 points), with the curriculum including how to cooperate with medical doctors (78.2%), communication skills (51.0%), and understanding of medical doctors’ functions (44.5%), etc. Only 52 respondents (9.4%) had experience in IPE. Respondents who recognized the importance of IPC (≥5 points) showed 4.44-fold higher agreement on the need for IPE than those who did not (≤4 points) (OR 4.44, 95% CI 2.56, 7.68). Conclusions Further attention and discussion to add IPE program in the pharmacy school curriculum is necessary in order to cultivate pharmacists with sufficient professional collaboration capabilities.

PURPOSE: This study was undertaken to identify factors that influence 17-OHP levels in preterm infants and to suggest a reasonable follow-up schedule of screening for congenital adrenal hyperplasia (CAH) in preterm infants. METHODS: The 17-OHP concentrations in filter paper blood spots of 427 preterm infants were obtained. The effects of gestational age (GA), systemic diseases, and antenatal dexamethasone on screening and follow-up 17-OHP values were investigated. RESULTS: The screening 17-OHP values were markedly variable (range: 0.1-143.3 ng/mL). The screening 17-OHP levels were negatively correlated with GA (r=-0.535, P<0.01). In infants with GA <32 weeks, the screening 17-OHP levels were significantly higher in sick infants or infant with hypotension than in healthy infants. The screening values of prenatal dexamethasone-treated infants had a tendency to be low. In infants with initial 17-OHP values > or =20 ng/mL, the intervals until rescreening 17-OHP <10 ng/mL or serum 17-OHP <20 ng/mL were negatively correlated with GA (r=-0.541, P<0.01) and were prolonged in infants with bronchopulmonary dysplasia (P<0.01). None of the preterm infants were confirmatively diagnosed with CAH. CONCLUSION: The 17-OHP values of preterm infants were influenced by GA, prenatal dexamethasone, and postnatal diseases. Because the 17-OHP vlues of preterm infants were markedly variable, a follow-up schedule should be developed considering both 17-OHP values and clinical status.
Adrenal Hyperplasia, Congenital ; Appointments and Schedules ; Bronchopulmonary Dysplasia ; Dexamethasone ; Follow-Up Studies ; Gestational Age ; Humans ; Hypotension ; Infant ; Infant, Newborn ; Infant, Premature ; Mass Screening ; Neonatal Screening

PURPOSE: Patients with chronic kidney disease are predisposed to having a stroke. However, there are few data regarding the risk factors of stroke for the mortality and outcome in patients with chronic renal failure on dialysis. This retrospective study was conducted to evaluate the risk factors of stroke and its outcome in patients on dialysis at our hospital. METHODS: We retrospectively analyzed the data of dialysis patients who developed strokes from March 2001 to March 2009. The stroke was diagnosed on the history, physical examination and computed axial tomography or magnetic resonance imaging of the brain. The types of stroke were divided into ischemic or hemorrhagic stroke. RESULTS: The 120 patients were included in this study. Cerebral ischemia was 80 cases (66.7%) and cerebral hemorrhage was 39 cases (32.5%). One case had cerebral ischemia and hemorrhage simultaneously. Stroke occurred most frequently within 1 year after starting dialysis. Patients with cerebral infarction were older than patients with cerebral hemorrhage. Diabetes mellitus (DM) was more frequent in patient with cerebral infarction. Univariate and multivariate Cox analysis showed old age, hypertension and poor mental status are risk factors of mortality. Diuretics use reduced the mortality. CONCLUSION: The incidence of ischemic stroke is twice the higher than that of hemorrhagic stroke in the dialysis population. The risk factors of mortality were old age, hypertension, poor mental status and no diuretic use.
Brain ; Brain Ischemia ; Cerebral Hemorrhage ; Cerebral Infarction ; Diabetes Mellitus ; Dialysis ; Diuretics ; Hemorrhage ; Humans ; Hypertension ; Incidence ; Kidney Failure, Chronic ; Magnetic Resonance Imaging ; Physical Examination ; Renal Insufficiency, Chronic ; Retrospective Studies ; Risk Factors ; Stroke

BACKGROUND: Cardiovascular disease is the main cause of mortality in dialysis patients. Carotid intima-media thickness (CIMT) is used as a surrogate marker of early atherosclerosis. Atherosclerosis can cause vascular access failure.The purpose of this study was to define the clinical features of atherosclerosis in hemodialysis patients based on CIMT and to define the relationship between CIMT and access failure. METHODS: In this cross-sectional study, the CIMT of 60 patients on hemodialysis was examined using B-mode Doppler ultrasonography between May 2012 and November 2012. Carotid atherosclerosis was defined as a CIMT> or =0.9 mm or the incidence of atherosclerotic plaques. RESULTS: The patients' mean age was 54.5+/-10.6 years, and 60% of the patients were male. The CIMT was 0.81+/-0.47 mm (range, 0.35-2.50 mm).The group with atherosclerosis was characterized by older age compared with those without atherosclerosis. Patients with atherosclerosis showed much shorter durations of access patency than their counterparts in the nonatherosclerosis group (hazard ratio, 2.822; 95% confidence interval, 1.113-7.156; P=0.029). Moreover, being overweight was associated with a 2.47-fold (95% confidence interval,1.101-5.548) increased primary access failure. CONCLUSION: This study shows that atherosclerosis is associated with older age. Patients who are overweight and have atherosclerosis may have shortened access patency.
Atherosclerosis* ; Biomarkers ; Cardiovascular Diseases ; Carotid Artery Diseases ; Carotid Intima-Media Thickness ; Cross-Sectional Studies ; Dialysis ; Humans ; Incidence ; Male ; Mortality ; Overweight ; Plaque, Atherosclerotic ; Renal Dialysis* ; Ultrasonography, Doppler

Allergic reactions to local anesthetics are very rare and represent <1% of all adverse local anesthetics reactions. A 54-year-old man was admitted to the hospital in the winter because of shortness of breath. The patient reportedly had an inhalation lung injury due to butane gas fuel. On the fifth day, he developed an asthmatic attack and anaphylactic shock immediately after lidocaine aerosol administration to prepare for bronchoscopy to confirm an acute inhalational lung injury diagnosis. Cardiopulmonary resuscitation was performed immediately after respiratory arrest, and the patient was admitted to the intensive care unit intubated and on a ventilator. He was extubated safely on the third post-cardiopulmonary resuscitation day. These observations suggest that aerosol lidocaine anesthesia may cause airway narrowing and anaphylactic shock. Practitioners should be aware of this potential complication. We report on this case with a brief review of the literature.
Anaphylaxis ; Anesthesia ; Anesthetics, Local ; Bronchial Spasm ; Bronchoscopy ; Butanes ; Cardiopulmonary Resuscitation ; Dyspnea ; Humans ; Hypersensitivity ; Hypersensitivity, Immediate ; Inhalation ; Intensive Care Units ; Lidocaine ; Lung ; Lung Injury ; Middle Aged ; Resuscitation ; Ventilators, Mechanical

OBJECTIVES: Schizophrenia is equally distributed in both sexes. However, later-onset, milder psychopathology, and better outcome are associated with the females. This reason is thought to be partly due to the estrogen system. Recently, it was suggested that estrogen receptor 1(ESR1) gene polymorphisms might affect the expression of ESR1 and were associated with several psychiatric disorders. Thus, we investigated the association between two single nucleotide polymorphisms(SNPs) in the ESR1 gene and Korean schizophrenic patients in this study. METHODS: Genotype, allele, and haplotype frequencies of the two SNPs(rs 2234693 and rs 2228480) were analyzed between 218 Korean controls and 158 Korean schizophrenic patients. Also, age of onset and negative symptom scale scores according to genotypes were analyzed in the patients with schizophrenia. RESULTS: There was a significant difference in allele frequencies of rs 2234693 between the schizophrenic patients and the controls(p=0.03). Genotype distributions(p=0.03) and allele frequencies(p=0.01) of rs 2234693 were significantly different between the female schizophrenic patients and the female controls. The frequency of TC-CC genotypes compared with TT genotype in the female schizophrenic patients was significantly higher than that in the female controls(OR=2.36). The mean age of onset in the schizophrenic patients with TC-CC genotypes was significantly lower than that in the patients with TT genotype. The frequency of rs 2234693C-rs 2228480G haplotype in the female schizophrenic patients was relatively higher than that in the female controls. CONCLUSIONS: These results of our study support the possibility that the ESR1 gene polymorphisms might be involved in the susceptibility of females to schizophrenia and play a role in sex difference of schizophrenia.
Age of Onset ; Alleles ; Estrogen Receptor alpha* ; Estrogens* ; Female* ; Gene Frequency ; Genotype ; Haplotypes ; Humans ; Polymorphism, Single Nucleotide* ; Psychopathology ; Schizophrenia ; Sex Characteristics

Cirsium japonicum belongs to the Asteraceae or Compositae family and is a medicinal plant in Asia that has a variety of effects, including tumour inhibition, improved immunity with flavones, and antidiabetic and hepatoprotective effects. Silymarin is synthesized by 4-coumaroyl-CoA via both the flavonoid and phenylpropanoid pathways to produce the immediate precursors taxifolin and coniferyl alcohol. Then, the oxidative radicalization of taxifolin and coniferyl alcohol produces silymarin. We identified the expression of genes related to the synthesis of silymarin in C. japonicum in three different tissues, namely, flowers, leaves, and roots, through RNA sequencing. We obtained 51,133 unigenes from transcriptome sequencing by de novo assembly using Trinity v2.1.1, TransDecoder v2.0.1, and CD-HIT v4.6 software. The differentially expressed gene analysis revealed that the expression of genes related to the flavonoid pathway was higher in the flowers, whereas the phenylpropanoid pathway was more highly expressed in the roots. In this study, we established a global transcriptome dataset for C. japonicum. The data shall not only be useful to focus more deeply on the genes related to product medicinal metabolite including flavolignan but also to study the functional genomics for genetic engineering of C. japonicum.
Asia ; Asteraceae ; Cirsium ; Dataset ; Estrone ; Flavones ; Flowers ; Gene Expression Profiling ; Genetic Engineering ; Genomics ; Humans ; Plants, Medicinal ; Sequence Analysis, RNA ; Silymarin ; Transcriptome