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A case of de novo duplication of 15q24-q26.3
Kim, Eun-Young,Kim, Yu-Kyong,Kim, Mi-Kyoung,Jung, Ji-Mi,Jeon, Ga-Won,Kim, Hye-Ran,Sin, Jong-Beom The Korean Pediatric Society 2011 Clinical and Experimental Pediatrics (CEP) Vol.54 No.6
Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some cases, cardiac defects. The range and severity of symptoms and physical findings may vary from case to case, depending upon the length and location of the duplicated portion of chromosome 15q. Most reported cases of duplication of the long arm of chromosome 15 frequently have more than one segmental imbalance resulting from unbalanced translocations involving chromosome 15 and deletions in another chromosome, as well as other structural chromosomal abnormalities. We report a female newborn with a de novo duplication, 15q24- q26.3, showing intrauterine overgrowth, a narrow asymmetric face with down-slanting palpebral fissures, a large, prominent nose, and micrognathia, arachnodactyly, camptodactyly, congenital heart disease, hydronephrosis, and hydroureter. Chromosomal analysis showed a 46,XX,inv(9)(p12q13),dup(15)(q24q26.3). Array comparative genomic hybridization analysis revealed a gain of 42 clones on 15q24-q26.3. This case represents the only reported patient with a de novo 15q24-q26.3 duplication that did not result from an unbalanced translocation and did not have a concomitant monosomic component in Korea.
Nursing Students’ Disaster Awareness, Disaster Preparedness, and Disaster Nursing Competency
Hye-Mi PARK,Tae-Hoon KIM,Jae-Young KIM,Ji-Eun KIM,Ji-Eun KIM,Ga-Eul PARK,Ji-Won BAEK,Yu-Jin SHIN,Ji-Yeon KIM,김윤미 한국웰빙융합학회 2023 웰빙융합연구 Vol.6 No.4
Purpose: This study aims to provide basic data to improve disaster nursing competency by identifying nursing students’ disaster awareness, disaster preparedness, and disaster nursing competency and confirming the relationship among them. Research design, data, and methodology: The subjects of this study were 310 students attending the Department of Nursing at E University in Gyeonggi-do, and the data was collected from April 13 to May 24, 2023. Results: Disaster awareness averaged 72.91±7.46 points, disaster preparedness averaged 2.82±2.81 points, and disaster nursing competency averaged 44.11±10.76 points. Disaster preparedness and disaster nursing competency were significantly higher in subjects with disaster nursing education experience than in those without experience. Disaster awareness showed a significant positive correlation with disaster preparedness (r=.20, p <.001), and also with disaster nursing competency (r=.37, p <.001). Disaster preparedness showed a significant positive correlation with disaster nursing competency (r=.49, p <.001). It was found that the disaster nursing competency was high when the disaster awareness (B=0.472, p<.001), and the disaster preparedness (B=1.561, p<.001) was high. Conclusions: The results show it is possible to improve students' disaster nursing competency by strengthening education on disaster awareness and disaster preparedness. Thus, specific efforts and future research are needed to develop disaster nursing education.
Hematoma beneath nail matrix after finger injury
( Ga-hye Na ),( Bo-ra Lim ),( Do-hyeon Kim ),( Soo-hyeon Noh ),( Eun-jung Kim ),( Kun Park ) 대한피부과학회 2018 대한피부과학회 학술발표대회집 Vol.70 No.1
Fingertip injuries are commonly seen, and many of the cases are simple to treat and do not need specialized treatment. However, there are certain conditions where early intervention is warranted for better functional and aesthetic outcomes. A 54-year old man presented with injured fingertip after crushing injury on left 2th finger. Inspection of the digit revealed bluish change of nail plate with erosion on proximal nail fold. Conventional radiograph showed multi-fragmentary fracture of the distal phalanx. After removal of nail plate, nail bed showed bloating. After incision on proximal nail fold, nail matrix showed bloody change with congestion. According to these findings, we diagnosed him as hematoma beneath nail matrix. Then, we incised the transverse line on nail matrix and remove hematoma beneath nail matrix. After this procedure, the patient didn`t complain of any pain. And nail plate showed normal growth without dystrophy. It is difficult to predict solitary nail matrix injury after fingertip injury. Nail matrix injury can cause persistent pain, disturb growth of normal nail plate, and increase the risk of infection. Therefore, evaluating nail matrix in fingertip injury is very important, especially accompanying significant injury to nail fold or digit. And injured nail matrix should be treated by appropriate method.
( Ga Eun You ),( Bong Jun Jung ),( Hye Rim Kim ),( Han Geun Kim ),( Tae Rahk Kim ),( Dae Kyun Chung ) 한국미생물 · 생명공학회 2013 Journal of microbiology and biotechnology Vol.23 No.10
Human skin is continuously exposed to ultraviolet (UV)-induced photoaging. UVA increases the activity of MMP-1 in dermal fibroblasts through mitogen-activated protein kinase (MAPK), p38, signaling. The irradiation of keratinocytes by UVA results in the secretion of the inflammatory cytokine, tumor necrosis factor-α (TNF-α), and the stimulation of MMP-1 in normal human dermal fibroblasts (NHDFs). Lipoteichoic acid (LTA) is a component of the cell wall of gram-positive Lactobacillus spp. of bacteria. LTA is well known as an anti-inflammation molecule. LTA of the bacterium Lactobacillus plantarum has an anti-photoaging effect, but the potential anti-photoaging effect of the other bacteria has not been examined to date. The current study showed that L. sakei LTA (sLTA) has an immune modulating effect in human monocyte cells. Our object was whether inhibitory effects of sLTA on MMP-1 are caused from reducing the MAPK signal in NHDFs. It inhibits MMP-1 and MAPK signaling induced by UVA in NHDFs. We also confirmed effects of sLTA suppressing TNF-α inducing MMP-1 in NHDFs.
( Ga-hye Na ),( Do-hyeon Kim ),( Soo-hyeon Noh ),( Eun-jung Kim ),( Kun Park ) 대한피부과학회 2017 대한피부과학회 학술발표대회집 Vol.69 No.1
Some authors found that about 7% of basal cell carcinoma had a previous history of trauma. And basal cell carcinomas have been reported to develop within scars caused by surgery, laser ablation, and other injuries. A 65-year-old man presented with asymptomatic erythematous plaque on right mandible. Histopathologic findings revealed that buds and irregular proliferations of basaloid tumor cells attached to the undersurface of the epidermis. Four years earlier, he had presented with erythematous plaque on same site. Histologic examination of initial lesion was consistent with actinic keratosis, and this lesion was treated by cryosurgery and CO<sub>2</sub> laser ablation. Based on these findings, we diagnosed him as basal cell carcinoma arising from the scar of cryosurgery and laser ablation for a pre-existing actinic keratosis.
Linear sebaceous hyperplasia following Blaschko's line: Case report and review of published work
( Ga Hye Na ),( Do-hyeon Kim ),( Bo-ra Lim ),( Soo-hyeon Noh ),( Kun Park ),( Eun Jung Kim ) 대한피부과학회 2018 대한피부과학회 학술발표대회집 Vol.70 No.1
Sebaceous hyperplasia is a common and benign disorder of the sebaceous gland. It commonly develops in middle aged to older persons, and usually presents as yellowish, scattered, umbilicated papules on the forehead, nose, and cheeks. However, several unusual variants of sebaceous hyperplasia have been reported, including a premature form, familial form, sebaceous hyperplasia et plaque, and a linear form. Here, we report an unusual case of sebaceous hyperplasia in a 37-year old woman, presenting as linear arranged, yellowish papules on the right post-auricular area. We also reviewed the literature concerning linear sebaceous hyperplasia, and found that almost all cases show the common features of younger age at onset and linear pattern arranged along Blaschko`s lines.
Ga-Young Kim,Sunyoung Kim,Mini Jo,Hye Yoon Seol,Young Sang Cho,Jihyun Lim,Il Joon Moon 대한의학회 2022 Journal of Korean medical science Vol.37 No.12
Background: Hearing loss (HL) is the most common chronic disease and has been linked to negative health outcomes. Hearing aids (HAs) are regarded as the gold standard for HL management, however, the adoption rate of HAs is relatively low for various reasons. With this background, hearing devices, such as personal sound amplification products (PSAPs) received significant attention as an alternative to conventional HAs. This study aimed to evaluate the clinical efficacy of PSAPs in patients with mild to moderately severe HL. Methods: Nineteen patients with mild hearing loss (MHL), 23 with moderate hearing loss (MDHL), and 15 with moderately severe hearing loss (MSHL) participated in the study. Electroacoustic analysis, simulated real-ear measurements (REMs), and three clinical evaluations were implemented. Results: All devices satisfied the electroacoustic tolerances. All devices provided sufficient gain for MHL and MDHL audiograms. However, in MSHL audiogram, the gains of PSAPs were insufficient, especially for high frequencies. In terms of clinical evaluations, soundfield audiometry showed significant improvements between aided and unaided thresholds in all groups for all devices (P < 0.001). Significant improvements of word recognition scores were only shown for HAs between aided and unaided conditions. The Korean version of the Hearing In Noise Test did not show any consistent findings for all devices and groups. Conclusion: Certain PSAPs are beneficial for improving hearing and speech perception in patients with HL. Well-chosen PSAPs could be an alternative hearing rehabilitation option for these patients.
Cutaneous squamous cell carcinoma arising in a patient with neurofibromatosis type 1: a case report
( Ga-hye Na ),( Bo-ra Lim ),( Do-hyeon Kim ),( Soo-hyeon Noh ),( Eun-jung Kim ),( Kun Park ) 대한피부과학회 2018 대한피부과학회 학술발표대회집 Vol.70 No.1
A 31-year-old man with a past history of neurofibromatosis type 1 presented with 2.5x1.5cm sized, exophytic tumor of back covered with crust and oozing. Histopathologic findings were consistent with poor differentiated squamous cell carcinoma. Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disease. It is known that the incidence of tumors in patients with NF1 is high compared with the normal population. And majority of the tumors are non-epithelial neoplasms, including neurofibromas, malignant peripheral nerve sheath tumors, gliomas and leukemia. Also, some studies have suggested that patients with NF1 also have a significantly higher risk of certain types of carcinomas, including breast cancer. However, the occurrence of cutaneous squamous cell carcinoma in a patient with NF1 is rarely reported and the association between NF1 and cutaneous squamous cell carcinoma is not established. Herein, we report a case of cutaneous squamous cell carcinoma occurring on the back of a 31-year-old man with neurofibromatosis type 1.