Congenital anomalies occur in 2-3% of neonates and have unknown and variable causes. It's occurance rate is higher in twin gestations than in singleton gestations, especially in monozygotic twins. In most cases of twin anomalies, one fetus is normal and the other fetus is not. When an anomaly is found in one fetus, various tests, such as chorionic villus sampling, amniocentesis, and umbilical cord aspiration are strongly recommended in high risk groups of chromosmal anomaly for accurate diagnosis and proper treatments. A case of congenital anomalies in both twins diagnosed in a 35 year old multiparous woman is presented with brief review of literatures.
Adult ; Amniocentesis ; Anencephaly ; Chorionic Villi Sampling ; Diagnosis ; Down Syndrome ; Female ; Fetus ; Humans ; Infant, Newborn ; Pregnancy ; Twins* ; Twins, Monozygotic ; Umbilical Cord

Ribonucleic acid (RNA) has potential use in forensic science for the determination of postmortem interval. We report the first study on serial sampling of messenger RNA (mRNA) from surgical specimens to determine if there is a correlation between mRNA quantity and elapsed time. Skin tissues were collected from modified radical mastectomy specimens. After a defined period of time, bisected skin sections were cut and frozen in liquid nitrogen. Serial collection of the specimens was conducted, and frozen sections were obtained from all samples. Quantitative real-time reverse transcription-polymerase chain reaction was performed using the extracted RNA to measure the transcriptional activity of 2 selected housekeeping genes. The selected loci were mRNA sequences that exhibited time-dependent quantitative changes in a previous study. We collected 44 samples from 9 different patients, with 3-10 samples collected per patient. The amount of mRNA transcripts present in the serial samples showed a weak time-dependent correlation trend only in some cases. Further studies to evaluate different target mRNA sequences are necessary, as is exploration of additional methods to evaluate mRNA transcript degradation.
Forensic Sciences ; Frozen Sections ; Genes, Essential ; Humans ; Mastectomy, Modified Radical ; Nitrogen ; RNA ; RNA Stability ; RNA, Messenger ; Skin

We report an extraordinary case of diffuse large B-cell lymphoma arising in a cystic necrotic mass in a 35-year-old man who presented with a soft tissue mass at the site of previous surgery. A benign mass was surgically removed 17 years ago, after which a cystic lesion gradually developed at the same site. The resected mass appeared as a thick-walled cyst filled with brown necrotic and hemorrhagic material. On microscopic examination, the cyst wall was primarily necrotic tissue with some aggregates of large atypical lymphoid cells. These atypical cells were diffusely positive for CD20 and showed a high proliferation index, Epstein-Barr virus positivity, and clonal rearrangement of the immunoglobulin gene. His present condition was diagnosed as Epstein-Barr virus-associated diffuse large B-cell lymphoma arising from chronic inflammation. It is important to be aware of the clinical manifestations and histological features of this rare disease in light of diagnosis and treatment.
Adult ; B-Lymphocytes ; Epstein-Barr Virus Infections ; Genes, Immunoglobulin ; Herpesvirus 4, Human ; Humans ; Incidental Findings ; Inflammation ; Light ; Lymphocytes ; Lymphoma, B-Cell ; Lymphoma, Large B-Cell, Diffuse ; Rare Diseases

Purpose: This study aimed to provide compelling evidence of anti-staphylococcal beta-lactam use for methicillin-susceptible Staphylococcus aureus bloodstream infection (MSSA BSI). Materials and Methods: We retrospectively collected data on patients with MSSA BSI who were admitted to two academic tertiary-care hospitals from 2010 to 2018. Only patients who received nafcillin, cefazolin, vancomycin, or teicoplanin as definitive therapy were included. The primary outcome was 28-day mortality. To perform unbiased comparisons between both treatments, we used inverse probability of treatment weighting (IPTW) analysis. Results: A total of 359 patients were divided into two groups based on the definitive therapy used: beta-lactams (n=203), including nafcillin or cefazolin; and glycopeptides (n=156), including vancomycin or teicoplanin. In the IPTW analysis, glycopeptides were associated with significantly increased odds of 28-day mortality (adjusted odds ratio, 3.37; 95% confidence interval, 1.71– 6.61; p<0.001). The rate of primary outcome in prespecified subgroups was largely consistent with the main analysis. Conclusion Definitive therapy with beta-lactams in patients with MSSA BSI was associated with lower 28-day mortality compared to definitive therapy with glycopeptides.

BACKGROUND: Follicular thyroid tumors harbor several genetic alterations such as RAS mutations and PAX8/PPARgamma rearrangement. The aims of our study were to investigate the prevalence of RAS mutations and PAX8/PPARgamma rearrangement in follicular thyroid tumors and to correlate RAS mutations and/or PAX8/PPARgamma rearrangement with clinicopathologic features in Korean patients with follicular thyroid carcinomas. METHODS: RAS mutations were investigated by polymerase chain reaction and DNA sequencing in surgical specimens of 37 follicular thyroid carcinomas (FTCs) and 16 follicular thyroid adenomas (FTAs). PAX8/PPARgamma rearrangement was analyzed by fluorescent in situ hybridization in surgical specimens of 31 FTCs and 13 FTAs. RESULTS: RAS mutations were detected in 30% (11 of 37) of FTCs and 19% (three of 16) of FTAs. Three of 11 FTC patients with RAS mutations died of thyroid cancer, but none of the 26 FTC patients without RAS mutations. PAX8/PPARgamma rearrangement was found in 10% (three of 31) of FTCs, but in none of the 13 FTAs. All three FTC patients with PAX8/PPARgamma rearrangement remained in complete remission during follow-up. There were no FTC patients with both RAS mutations and PAX8/PPARgamma rearrangement. CONCLUSION: The prevalence of RAS mutations in our series of follicular tumors was similar to previous studies. The frequency of PAX8/PPARgamma rearrangements in our group of FTC was lower than previous western reports, but higher than Japanese reports. RAS mutations may be associated with hematogeneous metastasis and poor survival while PAX8/PPARgamma rearrangement may be related to more favorable prognosis in Korean patients with FTCs.
Adenocarcinoma, Follicular ; Asian Continental Ancestry Group ; Follow-Up Studies ; Humans ; In Situ Hybridization, Fluorescence ; Korea ; Neoplasm Metastasis ; Polymerase Chain Reaction ; Prevalence ; Prognosis ; Sequence Analysis, DNA ; Thyroid Gland ; Thyroid Neoplasms

Cholesterol granuloma of the breast is a rare, benign disease. Here, we present the unique ultrasonographic findings of breast cholesterol granuloma manifesting as an intracystic mass. The findings of this case report may help expand existing knowledge regarding differential diagnosis of intracystic breast masses, which are found on ultrasonographic examination.
Biopsy, Needle ; Breast Diseases/pathology/surgery/*ultrasonography ; *Cholesterol ; Diagnosis, Differential ; Female ; Granuloma, Foreign-Body/pathology/surgery/*ultrasonography ; Humans ; Mammography ; Middle Aged ; *Ultrasonography, Mammary

Although laryngomalacia is the most common cause of congenital stridor in infancy, it is a benign, self-limited disease which usually resolves by the age of 18 months with no long- term sequelae. Nevertheless, infants who suffered from recurrent stridor and respiratory distress should be evaluated for other causes of stridor such as cardiopulmonary anomalies. We report 3 cases of infants who had recurrent stridor and respiratory distress from their early infancy. Case 1 had a double aortic arch and a tracheomalacia, case 2 had a hypoplasia of the right lung, and case 3 had a horseshoe lung as well as scimitar syndrome. Physicians should be alert for the possibility of the congenital cardiopulmonary abnormalities in infants with recurrent stridor and/or respiratory distress.
Aorta, Thoracic ; Dyspnea ; Humans ; Infant ; Laryngomalacia ; Lung ; Respiratory Sounds ; Scimitar Syndrome ; Tracheomalacia

PURPOSE: The education for self-management of asthma is considered as an essential component to control asthma and improve outcomes. This study aimed to develope an educational game for increasing knowledge of asthma management among children and their caregivers. METHODS: Three subspecialists of pediatric allergy and respirology, 1 pediatrician, 3 pediatric residents and 15 medical students conducted this study. An instructional systemic design using analysis, design, development, implementation and evaluation (ADDIE) model was applied in the entire process of game production. We surveyed the demands of asthma education in 19 caregivers of children who were in the treatment of asthma in Korea University Anam Hospital and reflected its results on the construction of game. For the evaluation of the objective effects of developed game, the comparison study was performed between the patients who had experienced the game (n=20) and those who had not (n=22) by using questionnaire about the knowledge of asthma. RESULTS: The game was developed as a form of board game and had contents including precipitating factors, symptoms and treatment of asthma. The patients older than elementary student easily understood the mode and substances of game, and participated with their concentrations throughout approximately 2 hours' operating time. In analysis of the knowledge level of asthma, the patients who had experienced board game showed significantly higher knowledge level than those who had not (74.0+/-17.6 vs. 55.0+/-17.1, P=0.006). CONCLUSION: We developed a family board game for the asthma education through the systematic production process. The board game may increase the knowledge level in asthmatic children, which would improve the ability of self-management.
Asthma ; Caregivers ; Child ; Humans ; Hypersensitivity ; Korea ; Precipitating Factors ; Surveys and Questionnaires ; Self Care ; Students, Medical

Telangiectasis of the uterus is an extremely rare but life-threatening disease because of massive uterine bleeding. The usage of GnRH agonist can cause regression and atrophy of the endometrium through induction of hypoestrogenism by pituitary down-regulation. But there is no clear explanation or report in the literature showing the relationship between uterine telangiectasis and GnRH agonist usage. We have experienced a patient with uncontrolled massive uterine bleeding after GnRH agonist treatment, who needed emergency hysterectomy. Pathologic tissue examination showed telangiectasis of the endometrium and myometrium. This is the first case report of telagiectasis of the uterus without other organ involvement. We report this case with a brief review of the literatures.
Animals ; Atrophy ; Down-Regulation ; Emergencies ; Endometrium ; Female ; Gonadotropin-Releasing Hormone ; Humans ; Hysterectomy ; Mice ; Myometrium ; Telangiectasis ; Uterine Hemorrhage ; Uterus

OBJECTIVE: Rheumatoid arthritis (RA) is a chronic autoimmune disease. Macrophage migration inhibitory factor (MIF) has been shown to be an important pro-inflammatory cytokine in RA. The aim of this study was to determine if the engagement of toll-like receptor 3 (TLR3) induces the production of MIF in the fibroblast-like synoviocytes (FLS) of patients with RA. METHODS: The expression of inflammatory cytokines (e.g. MIF, IL-6, IL-1beta and TNFalpha) and toll-like receptors (e.g. TLR2, TLR3 and TLR4) in the synovial tissue were quantified by immunohistochemistry. FLS were isolated from the synovial tissues of patients with RA and stimulated with TLR-3 ligand polyI:C, in the presence of a neutralizing antibody against IL-6. The concentrations of MIF and IL-6 in the culture supernatants from the FLS were measured using sandwich ELISA. RESULTS: The engagement of TLR3 with PolyI:C increased the production of MIF in FLS. The stimulatory effect of these TLR ligands showed a dose-dependent trend. The combination of TLR3 and TLR4 synergistically increased the level of MIF and IL-6 production. The addition of neutralizing antibodies against IL-6 abrogated the stimulatory effect of the ligands of TLR3 and TLR4 on the production of MIF. CONCLUSION: These results show that TLR3 engagement stimulates the production of MIF and IL-6. Therefore, the TLRs help perpetuate of RA pathogenesis through production of MIF from the FLS in patients with RA, and might provide a new therapeutic approach for the treatment of rheumatoid arthritis.
Antibodies, Neutralizing ; Arthritis, Rheumatoid ; Autoimmune Diseases ; Cytokines ; Enzyme-Linked Immunosorbent Assay ; Humans ; Immunohistochemistry ; Interleukin-6 ; Ligands ; Macrophages ; Toll-Like Receptor 3 ; Toll-Like Receptors ; Up-Regulation