Abnormal offsprings from balanced translocation carriers usually inherit only one of the translocated products and are therefore partially trisomic for one chromosome and partially monosomic for another. Partial trisomy 1q usually demonstrates fetal growth restriction and anomalies of head, face, urogenital tract, heart, finger and toes with a wide range of characteristics and severities. It has been reported in a few individuals in the world and this is the first report of partial trisomy 1q in Korea. We present the case of recurrent partial trisomy 1q in maternal balanced translocation which was prenatally diagnosed by amniocentesis with fluorescence in situ hybridization(FISH) based on abnormal ultrasonographic findings and poor obstetric history.
Amniocentesis ; Fetal Development ; Fingers ; Fluorescence ; Head ; Heart ; Korea ; Prenatal Diagnosis ; Toes ; Trisomy*

Hepatocellular carcinoma (HCC) is one of the most common malignant tumors and has the third highest mortality rate among malignancies in South Korea. Despite the continuing efforts for the early detection of HCC, the mortality rate and prognosis have not been improved yet. Its clinical behavior is quite different from other cancers. High recurrence rate after curative treatment might be the reason for poor prognosis. Several methods including chemoprevention, blocking the development of HCC, have been under investigations. The vaccine for hepatitis, in the form of primary prevention, is considered to be the most effective one inhibiting the development of liver disease. Furthermore, keeping away from hepatotoxic agents is another way for preventing liver cell injuries. Secondary prevention is to stop the developement of HCC in chronic liver diseases. Since the level of DNA in hepatitis B virus (HBV) hepatitis patients is closely related with the development of HCC, it is helpful to lower the DNA level using anti-viral agents. In addition, IFN, one of the anti-viral agents, can inhibit HCV hepatitis from tumorigenesis. Cyclo-oxygenase (COX)-2 inhibitors are also alleged to have a function in interrupting the development of HCC. Tertiary prevention means the prevention of recurrence of HCC after successful treatment. Because of high recurrence rate, the prevention of recurrence should be one of the important factors affecting the prognosis of HCC. Up to now, COX inhibitors, retinoic acids, vitamin K2, glycyrrhizin epigallocatechin-3-gallate (EGCG), and ginseng had been reported to be effective for the chemoprevention of HCC. Further studies are required for an advancement in the prevention of HCC.
Antiviral Agents/therapeutic use ; Carcinoma, Hepatocellular/*prevention & control ; Cyclooxygenase Inhibitors/therapeutic use ; Hepatitis B Vaccines ; Humans ; Interferons/therapeutic use ; Liver Neoplasms/*prevention & control

Proptosis after a subgaleal hematoma (SGH) is a rare condition that may require immediate intervention to prevent visual loss. A 12-year-old boy presented with localized SGH in the left parietal area after hair-pulling. The SGH was massively expanded on the entire scalp on the 3rd day of the trauma. On the next day after the massive expansion, proptosis of the right eye occurred suddenly. Emergent needle aspiration of the SGH was performed, and the proptosis improved slightly. Fortunately, his vision did not deteriorate. After all, he was diagnosed with coagulation factor IX deficiency (hemophilia B). The supraorbital notch could be a passage of the SGH to extend into the subperiosteal space of the orbit.

Breast implant-associated squamous cell carcinoma (BIA-SCC) is a rare but serious disease that originates from the lining of the breast implant capsule. Alongside BIA-anaplastic large cell lymphoma, the U.S. Food and Drug Administration issued a safety communication in 2022 regarding BIA-SCC to alert healthcare providers and patients. Although only a few cases have been reported, the high mortality and poor prognosis associated with BIA-SCC underscore the severity of the disease. This review discusses the current knowledge of BIA-SCC, including its pathogenesis, diagnostic methods, and treatment options based on reported cases.

We report a rare case of a massive fatal embolism that occurred in the middle of endoscopic retrograde cholangiopancreatography (ERCP) and retrospectively examine the significant causes of the event. The patient was a 50-year old female with an uncertain history of previous abdominal surgery for multiple biliary stones 20 years prior. The patient presented with acute right upper quadrant pain. An abdominal computed tomographic (CT) scan revealed the presence of multiple stones in the common bile duct (CBD) and intra-hepatic duct (IHD) with biliary obstruction, multifocal liver abscesses, and air-biliarygram. Emergency ERCP showed a wide and straight opening of choledochoduodenostomy, which may have been created during a previous surgery, and multiple filling defects in the CBD. With the use of a forward endoscope, mud stones were extracted through the opening of the choledochoduodenostomy. Cardiac arrest suddenly developed during the procedure, and despite immediate resuscitation, the patient died due to a massive systemic air embolism. We reviewed previously reported fatal cases and accessed factors facilitating air embolisms in this case.
Cholangiopancreatography, Endoscopic Retrograde/*methods ; Choledochostomy/*methods ; Common Bile Duct/radiography ; Embolism, Air/*complications ; Fatal Outcome ; Female ; Humans ; Liver Abscess/pathology ; Middle Aged ; Tomography, X-Ray Computed

BACKGROUND: Human cytomegalovirus (HCMV) has the ability to activate the expression of many viral and cellular genes. The c-jun proto-oncogene has known to be induced at immediate early time of HCMV infection, however, the mechanism of up-regulation of the gene was not known. We found HCMV immediate-early (IE) 2 expression transactivate the c-jun promoter in human embryonal lung cell (HEL). METHODS: The c-jun promoter region between -117 and -59 contains binding sites for the transcription factors Sp1, CAAT, AP-1 like (ATF/CREB), and MEF2. We tried to map the sequences in the c-jun promoter responsible for activation of the promoter by HCMV IE2 expression. Transient expression assays were performed using various reporter plasmids containing the c-jun promoter-regulatory region linked to the luciferase gene and a plasmid expressing HCMV IE2 gene. RESULTS: Deletional and point mutational analysis showed that ATF, MEF2, and another down stream elements were involved in the up-regulation of c-jun promoter. Gel mobility shift assay showed that there are several factors in HEL cell nuclear extracts that specifically bind to these sites and in vitro translated IE2 could not move or supershift the specific bands. CONCLUSION: This study delineate the mechanism of c-jun up-regulation in HCMV infection and would give the clue for the possible contribution of HCMV in tumorigenesis.
Binding Sites ; Carcinogenesis ; Cytomegalovirus* ; Electrophoretic Mobility Shift Assay ; Genes, jun ; Humans* ; Luciferases ; Lung ; Plasmids ; Promoter Regions, Genetic ; Rivers ; Transcription Factor AP-1 ; Transcription Factors ; Up-Regulation

OBJECTIVE: To investigate the histologic features of the uterus and adnexae extirpated from gender identity disorder (GID) patients that received depot androgen injection. METHODS: We reviewed the histologic findings of the uterus and adnexae removed from sixteen GID patients, who had taken depot androgen injection for 5~168 months. RESULTS: Fourteen patients (87.5%) showed the atrophied epithelium of exocervix and all of 16 patients (100%) showed the atrophy of endometrium. Seven patients (43.7%) showed multiple cystic follicles in the ovarian cortex and 6 patients (37.5%), 3 patients (18.7%) showed corpus albicans and corpus luteum, respectively. CONCLUSIONS: Exogenous androgen induced atrophy of cervix and endometrium. This effect was more prominent in the endometrium. In addition, PCO-like histologic features were observed in the ovary.
Atrophy ; Cervix Uteri ; Corpus Luteum ; Endometrium ; Epithelium ; Female ; Gender Identity* ; Humans ; Ovary ; Uterus*

Human cytomegalovirus (HCMV) has the ability to activate the espremission of many viral and cellular genes. Among various viral proteins, the immediate early proteins (IE1-72kDa, IE2-86kDa) have been known to be potent transactivators. The product of c-jun photo-oncogene is important in cell activation and differentiation. Here, we tried to find out if the IE could activate the c-jun promoter and also tried to identify the responsible sequence elements in the c-jun activation by IE1-72kDa. We found HCMV IE expression transactivated the c-jun promoter in human embryonal lung fibroblasts (HEL). The activation fold by IE1-72kDa, IE2-86kDa and IE2-55kBa was 23, 35, and 5, respectively. When the expression of each IE was combined, it showed synergism. Expression of (IE1-72kDa + IE2-86kBa) and (IE1-72kDa + IE2-86kDa + IE2-55kDa) resulted in 131 and 162 fold increase, respectively. The c-jun promoter region between -117 and -59 contains binding sites for the transcription factors Spl, CAAT, AP-1 like (ATF/CREB), and MEF2. Transient expression assays were performed using various reporter plasmids containing the c-jun promoter-regulatory region linked to the luciferase gene and a plasmic expressing HCMV IE1 gene. Deletional and point mutational analysis showed that the sequence between -225 to -160 and the CTF binding site were involved in the up-regulation of c-jun promoter.
Binding Sites ; Cytomegalovirus* ; Fibroblasts ; Humans* ; Immediate-Early Proteins ; Luciferases ; Lung ; Plasmids ; Promoter Regions, Genetic ; Trans-Activators ; Transcription Factor AP-1 ; Transcription Factors ; Up-Regulation ; Viral Proteins

BACKGROUND: The most common complication of latissimus dorsi myocutaneous flap in breast reconstruction is seroma formation in the back. Many clinical studies have shown that fibrin sealant reduces seroma formation. We investigated any statistically significant differences in postoperative drainage and seroma formation when utilizing the fibrin sealant on the site of the latissimus dorsi myocutaneous flap harvested for immediate breast reconstruction after skin-sparing partial mastectomy. METHODS: A total of 46 patients underwent immediate breast reconstruction utilizing a latissimus dorsi myocutaneous island flap. Of those, 23 patients underwent the procedure without fibrin sealant and the other 23 were administered the fibrin sealant. All flaps were elevated with manual dissection by the same surgeon and were analyzed to evaluate the potential benefits of the fibrin sealant. The correlation analysis and Mann-Whitney U test were used for analyzing the drainage volume according to age, weight of the breast specimen, and body mass index. RESULTS: Although not statistically significant, the cumulative drainage fluid volume was higher in the control group until postoperative day 2 (530.1 mL compared to 502.3 mL), but the fibrin sealant group showed more drainage beginning on postoperative day 3. The donor site comparisons showed the fibrin sealant group had more drainage beginning on postoperative day 3 and the drain was removed 1 day earlier in the control group. CONCLUSIONS: The use of fibrin sealant resulted in no reduction of seroma formation. Because the benefits of the fibrin sealant are not clear, the use of fibrin sealant must be fully discussed with patients before its use as a part of informed consent.
Breast ; Drainage ; Female ; Fibrin ; Fibrin Tissue Adhesive ; Humans ; Informed Consent ; Mammaplasty ; Mastectomy ; Seroma ; Tissue Donors

PURPOSE: Panendothelial markers such as factor VIII, CD34, CD31, CD105 (endoglin) and D2-40 are useful to identify proliferating endothelium that is related to tumor invasion. This study was designed to identify the correlation between the expressions of panendothelial and lymphatic vessel markers in preoperative biopsy specimens and the clinicopathologic factors. METHODS: Preoperative biopsy specimens from 72 patients were immunostained for CD105, CD34, CD31, Factor VIII and D2-40. The microvessel and lympathic vessel densities (MVD and LVD) were counted in dense vascular foci (hot spots) on a x200 field in each specimen. The correlation between these factors and the clinicopathologic parameters were analyzed. RESULTS: The MVD by CD105 showed statistically significant correlation with tumor emboli, the T-stage, nodal metastasis and the stage, and the MVD by CD34 had statistically significant correlation with tumor emboli, nodal metastasis and the stage. The lympathic vessel density (LVD) by D2-40 showed a statistically significant correlation with tumor emboli, the T-stage and nodal metastasis. CONCLUSION: The MVD by CD105 and the LVD by D2-40 in preoperative biopsy specimens of colorectal cancers may be useful markers for the prediction of invasiveness.
Biopsy* ; Colorectal Neoplasms* ; Endothelium ; Factor VIII ; Humans ; Lymphatic Vessels* ; Microvessels ; Neoplasm Metastasis