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.

Nocardia pseudobrasiliensis is predominantly associated with invasive infections in immunocompromised patients. We report a case of disseminated mycetoma caused by N. pseudobrasiliensis in a 57-yr-old woman with microscopic polyangiitis, who was treated for 3 months with corticosteroids. The same organism was isolated from mycetoma cultures on the patient's scalp, right arm, and right leg. The phenotypic characteristics of the isolate were consistent with both Nocardia brasiliensis and N. pseudobrasiliensis, i.e., catalase and urease positivity, hydrolysis of esculin, gelatin, casein, hypoxanthine, and tyrosine, but no hydrolysis of xanthine. The isolate was identified as N. pseudobrasiliensis based on 16S rRNA and hsp65 gene sequencing. The patient was treated for 5 days with intravenous ampicillin/sulbactam, at which time both the mycetomas and fever had subsided and discharged on amoxicillin/clavulanate. This case highlights a very rare presentation of mainly cutaneous mycetoma caused by N. pseudobrasiliensis. This is the first reported case of N. pseudobrasiliensis infection in Korea.
Adrenal Cortex Hormones/*therapeutic use ; Asian Continental Ancestry Group ; Bacterial Proteins/chemistry/genetics ; Female ; Humans ; Microscopic Polyangiitis/complications/*drug therapy ; Middle Aged ; Mycetoma/complications/*diagnosis/microbiology ; Nocardia/genetics/*isolation & purification ; RNA, Ribosomal, 16S/chemistry/genetics ; Republic of Korea ; Scalp/microbiology/pathology ; Sequence Analysis, DNA ; Skin/microbiology

Nocardia pseudobrasiliensis is predominantly associated with invasive infections in immunocompromised patients. We report a case of disseminated mycetoma caused by N. pseudobrasiliensis in a 57-yr-old woman with microscopic polyangiitis, who was treated for 3 months with corticosteroids. The same organism was isolated from mycetoma cultures on the patient's scalp, right arm, and right leg. The phenotypic characteristics of the isolate were consistent with both Nocardia brasiliensis and N. pseudobrasiliensis, i.e., catalase and urease positivity, hydrolysis of esculin, gelatin, casein, hypoxanthine, and tyrosine, but no hydrolysis of xanthine. The isolate was identified as N. pseudobrasiliensis based on 16S rRNA and hsp65 gene sequencing. The patient was treated for 5 days with intravenous ampicillin/sulbactam, at which time both the mycetomas and fever had subsided and discharged on amoxicillin/clavulanate. This case highlights a very rare presentation of mainly cutaneous mycetoma caused by N. pseudobrasiliensis. This is the first reported case of N. pseudobrasiliensis infection in Korea.
Adrenal Cortex Hormones/*therapeutic use ; Asian Continental Ancestry Group ; Bacterial Proteins/chemistry/genetics ; Female ; Humans ; Microscopic Polyangiitis/complications/*drug therapy ; Middle Aged ; Mycetoma/complications/*diagnosis/microbiology ; Nocardia/genetics/*isolation & purification ; RNA, Ribosomal, 16S/chemistry/genetics ; Republic of Korea ; Scalp/microbiology/pathology ; Sequence Analysis, DNA ; Skin/microbiology

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

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: 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: 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: 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