A prenatal chromosomal microarray (CMA) is generally recommended when a major anomaly is suspected on prenatal ultrasonography. As it can overcome the limitations of conventional karyotyping, it is expected that the number of prenatal CMA test requests will gradually increase. However, given the specificity of prenatal diagnosis, there are practical considerations compared to postnatal testing, such as the validation of prenatal specimens, maternal cell contamination, precautions when reporting variants of uncertain significance, and the need for comprehensive genetic counseling considering secondary findings. The purpose of this article is to provide necessary information to health care providers in consideration of these issues and to provide appropriate genetic counseling to patients.

No abstract available.
Bone Density* ; Child* ; Humans

Purpose: We used next-generation sequencing (NGS) to investigate the genetic causes of suspected genetic short stature in 37 patients, and we describe their phenotypes and various genetic spectra. Methods: We reviewed the medical records of 50 patients who underwent genetic testing using NGS for suspected genetic short stature from June 2019 to December 2022. Patients with short stature caused by nongenetic factors or common chromosomal abnormalities were excluded. Thirty-seven patients from 35 families were enrolled in this study. We administered one of three genetic tests (2 targeted panel tests or whole exome sequencing) to patients according to their phenotypes. Results: Clinical and molecular diagnoses were confirmed in 15 of the 37 patients, for an overall diagnostic yield of 40.5%. Fifteen pathogenic/likely pathogenic variants were identified in 13 genes (ACAN, ANKRD11, ARID1B, CEP152, COL10A1, COL1A2, EXT1, FGFR3, NIPBL, NRAS, PTPN11, SHOX, SLC16A2). The diagnostic rate was highest in patients who were small for their gestational age (7 of 11, 63.6%). Conclusion Genetic evaluation using NGS can be helpful in patients with suspected genetic short stature who have clinical and genetic heterogeneity. Further studies are needed to develop patient selection algorithms and panels containing growth-related genes.

Human cytomegalovirus (CMV) infection has been a major concern in hematopoietic stem cell transplant recipients. Ganciclovir (GCV) resistance results mostly from mutations within the protein kinase UL97 gene. The three hot spots for GCV resistance (codons 460, 520, and 590-607) were well known. We describe a case of GCV-resistant CMV colitis caused by a 597-600 deletion in UL97 after haplo-identical peripheral blood stem cell transplantation (h-PBSCT) in a 46 year-old man with myelodysplastic syndrome. On post-PBSCT day 28, CMV antigenemia turned positive. Treatment of GCV was started and continued for 12 weeks but CMV antigenemia did not respond to the treatment and CMV colitis was worsened. The UL97 showed the in-frame deletion between codons 597 and 600 by direct sequencing. The treatment was switched to foscarnet and the antigenemia test was consecutively negative twice, and clinical symptoms improved. Despite the recovery of the patient from CMV colitis, the patient expired post-PBSCT day 146 from acute liver failure, hepatorenal syndrome and septic shock. This case is a first report of a deletion 597-600 in CMV UL97 in Korea. A 597-600 deletion in UL97 was responsible for the GCV resistance while preserving susceptibility to foscarnet.
Codon ; Colitis* ; Cytomegalovirus* ; Drug Resistance ; Foscarnet ; Ganciclovir ; Hematopoietic Stem Cells ; Hepatorenal Syndrome ; Humans ; Korea ; Liver Failure, Acute ; Myelodysplastic Syndromes ; Peripheral Blood Stem Cell Transplantation ; Protein Kinases ; Shock, Septic ; Stem Cell Transplantation* ; Transplantation

PURPOSE: Gynecomastia is a common male breast abnormality and primarily occurs in puberty and senescence. The obvious etiological role of hormonal changes in gynecomastia, plus the discovery of estrogen receptor in normal and neoplastic breast, has spurred several investigations of ER content in male gynecomastic tissues. The results have been inconsistent and the fraction of ER-positive specimens has varied from 0~90%. METHODS: Immunohistochemical hormonal receptor analysis using monoclonal estrogen receptor (ER) alpha, beta and progesteron receptor (PR) was performed on the breast tissues of 58 patients with gynecomastia between January 1995 and January 2000 in the Department of Surgery, Uijongbu St. Mary's Hospital. These results were statistically compared with clinical data. RESULTS: 48 cases (82.8%) were ERalpha positive and 55 cases (94.8%) were ERbeta positive and PR positivity was noted in 55 cases (94.8%). There was negative relationship between ERalpha and age, PR and location. CONCLUSION: This study demonstrates that intracellular steroid receptors are present in most gynecomastic tissues. Additionally, it supports the general assumption that estrogen and progesteron may be two of the hormones responsible for the development of gynecomastia.
Male ; Humans

Exponentially increasing biopathway data in recent years provide us with means to elucidate the large-scale modular organization of the cell. Given the existing information on metabolic and regulatory networks, inferring biopathway information through scientific reasoning or data mining of large scale array data or proteomics data get great attention. Naturally, there is a need for a user-friendly system allowing the user to combine large and diverse pathway data sets from different resources. We built a data warehouse - BIOWAY - for analyzing and visualizing biological pathways, by integrating and customizing resources. We have collected many different types of data in regards to pathway information,including metabolic pathway data from KEGG/LIGAND,signaling pathway data from BIND, and protein information data from SWISS-PROT.In addition to providing general data retrieval mechanism, a successful user interface should provide convenient visualization mechanism since biological pathway data is difficult to conceptualize without graphical representations. Still, the visual interface in the previous systems, at best, uses static images only for the specific categorized pathways. Thus, it is difficult to cope with more complex pathways. In the BIOWAY system, all the pathway data can be displayed in computer generated graphical networks, rather than manually drawn image data. Furthermore, it is designed in such a way that all the pathway maps can be expanded or shrinked, by introducing the concept of super node. A subtle graphic layout algorithm has been applied to best display the pathway data.
Data Mining ; Dataset ; Information Storage and Retrieval ; Metabolic Networks and Pathways ; Proteomics

PURPOSE: In order to confirm the clinical application of a tissue microarrays method, the expression rate and relationship between factors related apoptosis, hormonal receptors and the clinical factors were investigated. METHODS: A tissue microarrays of 59 breast cancer tissues, and apoptosis related factors were examined by immunohistochemical staining using monoclonal antibodies. RESULTS: The median age of the patients was 49.9 years and 86.4% had a pathological stage of over stage II. The average number of metastatic lymph nodes was 3.8. p53 expression was noted in 21 cases (35.6%) and was related to Bcl-2, ER and PR expression. PTEN was expressed in 39 cases (66.1%) and related to FAS, Bcl-2, ER and PR expression. Fas was expressed in 34 cases (57.6%) and related with PR and BAX expression. BAX expression was observed in 42 cases (71.2%) and was related to the metastatic axillary lymph nodes, and both Bcl-2 and PR expression. Bcl-2 expression was noted in 33 cases (55.9%) and related to ER and PR expression. ER was expressed in 34 cases (57.6%) and was related positively with PR expression. CONCLUSION: The tissue microarrays method can be used for both screening and analyzing many factors or different tumor types. This new technique may be very powerful for the rapid identification of the tumor characteristics.
Antibodies, Monoclonal ; Apoptosis* ; Breast Neoplasms* ; Breast* ; Humans ; Lymph Nodes ; Mass Screening

The incidence of colon cancer and cancer-related deaths has been increased in Korea. Because most colon cancers arise from colonic adenomatous polyps, it is important to detect these early and to resect such lesions, and so the incidence of endoscopic polypectomy has increased in Korea since 1970's. At present, conventional colonoscopy is the standard for evaluating the colon, and especially for the screening and treatment of colon tumor. However, the entire colon cannot be visualized during conventional colonoscopy in 5~15% of patients due to a redundant colon, an excessive loop or a history of abdominal surgery. To overcome these difficulties, many radiologic and endoscopic studies have been conducted and there are several recent reports that double balloon enteroscopy has been successfully used in cases of failed conventional colonoscopy. We report here on a case of laterally spreading tumor that was resected with double balloon enteroscopy in a severely redundant colon.
Adenomatous Polyps ; Colon ; Colonic Neoplasms ; Colonoscopy ; Double-Balloon Enteroscopy ; Humans ; Incidence ; Korea ; Mass Screening

PURPOSE: In order to confirm the clinical application of a tissue microarrays method, the expression rate and relationship between factors related apoptosis, hormonal receptors and the clinical factors were investigated. METHODS: A tissue microarrays of 59 breast cancer tissues, and apoptosis related factors were examined by immunohistochemical staining using monoclonal antibodies. RESULTS: The median age of the patients was 49.9 years and 86.4% had a pathological stage of over stage II. The average number of metastatic lymph nodes was 3.8. p53 expression was noted in 21 cases (35.6%) and was related to Bcl-2, ER and PR expression. PTEN was expressed in 39 cases (66.1%) and related to FAS, Bcl-2, ER and PR expression. Fas was expressed in 34 cases (57.6%) and related with PR and BAX expression. BAX expression was observed in 42 cases (71.2%) and was related to the metastatic axillary lymph nodes, and both Bcl-2 and PR expression. Bcl-2 expression was noted in 33 cases (55.9%) and related to ER and PR expression. ER was expressed in 34 cases (57.6%) and was related positively with PR expression. CONCLUSION: The tissue microarrays method can be used for both screening and analyzing many factors or different tumor types. This new technique may be very powerful for the rapid identification of the tumor characteristics.
Antibodies, Monoclonal ; Apoptosis* ; Breast Neoplasms* ; Breast* ; Humans ; Lymph Nodes ; Mass Screening

PURPOSE: Endoscopic thyroidectomy has become a widely used operative method due to the recent advances in the operative technique and instruments and its cosmetic superiority. The aim of this study is to evaluate the technical feasibility and potential role of endoscopic thyroidectomy. METHODS: Between December 1999 and December 2006, 300 patients with benign thyroid disease or thyroid cancer were treated by gasless endoscopic thyroidectomy with using the anterior chest wall approach at Uijongbu St. Mary's Hospital. We analyzed that clinicopathological features, the operative time, the operative method and the complications. RESULTS: There were 261 cases of benign disease and 39 cases of malignant tumor. We generally performed lobectomy for benign thyroid disease. For malignant tumor, we performed 14 lobectomies, 6 total (or near total) thyroidectomies, 17 total (or near total) thyroidectomies with central lymph node dissection and 2 total (or near total) thyroidectomies with lateral lymph node dissection. The most frequent pathology in benign disease was nodular hyperplasia, and in malignant disease it was papillary carcinoma. The mean operative time was 122.2 minutes. For the patients with thyroid cancer, the mean operative time for thyroid cancer surgery without lymph node dissection (20 cases) and thyroid cancer surgery with lymph node dissection (19 cases) was 144 and 177 minutes, respectively. There were 34 cases of complication (11.33%) with 11 cases of transient hoarseness, 9 cases of transient hypocalcemia and 1 case of permanent hypocalcemia. CONCLUSION: Endoscopic thyroidectomy is a safe and technically feasible alternative to conventional thyroidectomy in patients with benign disease. In patients with thyroid cancer, we suggest that that endoscopic thyroidectomy can be a good alternative to conventional thyroid surgery in highly selected cases. Larger series and longer follow-up evaluation are necessary to confirm our findings.
Carcinoma, Papillary ; Cosmetics ; Hoarseness ; Humans ; Hyperplasia ; Hypocalcemia ; Lymph Node Excision ; Operative Time ; Thoracic Wall ; Thyroid Diseases ; Thyroid Gland ; Thyroid Neoplasms ; Thyroidectomy