ABSTRACT
Trisomy 9 mosaicism syndrome is a rare chromosomal abnormality with a high incidence of natural abortion and perinatal death. This syndrome is characterized by intrauterine growth retardation, mental retardation, craniofacial dysmorphism including a prominent nasal bridge with a short root and a fish-shaped mouth with thin lips, skeletal abnormalities, congenital heart defects, and genital abnormalities. The incidence and severity of malformations depend on the percentage of trisomic cells in the different tissues. We report a neonate who had the characteristic features of trisomy 9 syndrome with dysmorphic features including micrognathia, microcephaly, a low-set and malformed ear, a prominent lip, and cardiac defect. No chromosomal abnormalities were detected on a routine peripheral blood chromosomal analysis; however, a chromosomal abnormality with trisomy 9 mosaicism (low-level mosaic type) was detected on genetic tests. This is thought to be due to the low proportion of trisomic cells, and for this reason, the patient in this case shows a better prognosis than four patients previously reported in Korea, they were all diagnosed by peripheral blood chromosome testing.
ABSTRACT
Trisomy 9 mosaicism syndrome is a rare chromosomal abnormality with a high incidence of natural abortion and perinatal death. This syndrome is characterized by intrauterine growth retardation, mental retardation, craniofacial dysmorphism including a prominent nasal bridge with a short root and a fish-shaped mouth with thin lips, skeletal abnormalities, congenital heart defects, and genital abnormalities. The incidence and severity of malformations depend on the percentage of trisomic cells in the different tissues. We report a neonate who had the characteristic features of trisomy 9 syndrome with dysmorphic features including micrognathia, microcephaly, a low-set and malformed ear, a prominent lip, and cardiac defect. No chromosomal abnormalities were detected on a routine peripheral blood chromosomal analysis; however, a chromosomal abnormality with trisomy 9 mosaicism (low-level mosaic type) was detected on genetic tests. This is thought to be due to the low proportion of trisomic cells, and for this reason, the patient in this case shows a better prognosis than four patients previously reported in Korea, they were all diagnosed by peripheral blood chromosome testing.
ABSTRACT
BACKGROUND: Cancer invasion is a critical factor for survival and prognosis of patients with cancer. Identifying and targeting factors that influence cancer invasion are an important strategy to overcome cancer. In this study, we investigated the role of fascin known to be associated with cancer invasion. METHODS: Fascin depletion was performed with lentiviral short hairpin RNA against fascin mRNA and stable cell line (Fascin(dep)) was established. Matrigel-Transwell invasion and three-dimensional (3D) culture system were used to observe fascin depletion effects. In order to observe the changes of protease secretion by fascin depleted cancer cells, protease antibody array was performed. RESULTS: Fascin was highly expressed in invasive cancer cells. Fascin-depleted cells showed decreased cancer invasion in Matrigel-Transwell invasion and 3D culture system. In addition, inhibition of proteases secreation and decrease of intracellular proteases mRNA expression were observed in fascin deplete cells. CONCLUSIONS: These results indicates that fascin is closely involved in proteases activity and cancer invasion. Therefore, fascin is a strategically important factor for controlling cancer invasion.
Subject(s)
Humans , Cell Line , Gene Silencing , Head and Neck Neoplasms , Metalloproteases , Mouth Neoplasms , Peptide Hydrolases , Prognosis , RNA, Messenger , RNA, Small Interfering , Tumor MicroenvironmentABSTRACT
PURPOSE: The purpose of this study was to investigate factors affecting the experience of depression in school-aged children from multicultural families. METHODS: Data from 1,812 school-aged children of multicultural families were collected from the 2015 National Multicultural Family Survey. Logistic regression was conducted based on complex sample analysis using SAS 9.4. RESULTS: Significant predictors for experiencing depression were lower self-esteem, lower Korean proficiency, less time spent conversing with the father, lower degree of parental interest, poorer school adjustment, greater difficulties with schoolwork, and experiencing violence at school. CONCLUSION: This study showed that factors related to the individual, family, and school environment influenced the experience of depression. Based on a consideration of these factors, it is necessary to develop an effective program to prevent depression by establishing high-risk criteria for depression.