Journal of Korean medical science
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J. Korean Med. Sci. · Mar 2014
Case ReportsDifferent clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene.
Severe congenital neutropenia (SCN) is a heterogeneous group of disorders with a defect in granulopoiesis causing marked neutropenia and severe bacterial infections. A 17-month-old girl (patient 1) was admitted due to cervical lymphadenitis caused by methicillin-resistant Staphylococcus aureus, with neutropenia. She had Pseudomonas aeruginosa sepsis and peritonitis with perforated appendicitis at 8-month of age. ⋯ We found an ELANE gene mutation (c.597+1G > A) from them in direct DNA sequencing analysis. Patients 1 and 2 did not respond to granulocyte colony stimulating factor and patient 1 was treated with prolonged antibiotics and excision. We demonstrated inherited SCN cases showing different severity even with the same mutation of the ELANE gene in a family.
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J. Korean Med. Sci. · Mar 2014
Translation and linguistic validation of the korean version of the dysfunctional voiding symptom score.
Although studies on pediatric dysfunctional voiding are increasing, there have not been enough efforts to validate the Dysfunctional Voiding Symptom Score (DVSS) questionnaire. Therefore, we aimed to translate and validate the DVSS into Korean. The DVSS questionnaire was validated between January and October, 2013. ⋯ In an intra-class correlation, the Cronbach's alpha was high in all of the questions (0.97, P < 0.001). Test re-test Cronbach's alpha analysis of reproducibility was higher than 0.8 for all of the 10 questions (P < 0.001). Translation and linguistic validation of Korean version of the DVSS questionnaire was completed by a proper process, with high reliability and validity.
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J. Korean Med. Sci. · Mar 2014
Intimal hyperplasia in loop-injured carotid arteries is attenuated in transglutaminase 2-null mice.
Arterial restenosis frequently develops after open or endovascular surgery due to intimal hyperplasia. Since tissue transglutaminase (TG2) is known to involve in fibrosis, wound healing, and extracellular matrix remodeling, we examined the role of TG2 in the process of intimal hyperplasia using TG2-null mice. The neointimal formation was compared between TG2-null and wild-type (C57BL/6) mice by two different injury models; carotid ligation and carotid loop injury. ⋯ In situ activity of TG2 in the injured arteries steadily increased until 4 weeks compared to uninjured arteries. Taken together, intimal hyperplasia was significantly reduced in TG2-null mice, indicating that TG2 has an important role in the development of intimal hyperplasia. This suggests that TG2 may be a novel target to prevent the arterial restenosis after vascular surgery.
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J. Korean Med. Sci. · Mar 2014
Establishment of an orthotopic mouse non-muscle invasive bladder cancer model expressing the mammalian target of rapamycin signaling pathway.
We established an orthotopic non-muscle invasive bladder cancer (NMIBC) mouse model expressing the mammalian target of the rapamycin (mTOR) signaling pathway. After intravesical instillation of KU-7-lucs (day 0), animals were subsequently monitored by bioluminescence imaging (BLI) on days 4, 7, 14, and 21, and performed histopathological examination. We also validated the orthotopic mouse model expressing the mTOR signaling pathway immunohistochemically. ⋯ The mTOR signaling pathway-related proteins were expressed in the bladder, and were correlated with the western blot results. Our results suggest successful establishment of an orthotopic mouse NMIBC model expressing the mTOR signaling pathway using KU-7-luc cells. This model is expected to be helpful to evaluate preclinical testing of intravesical therapy based on the mTOR signaling pathway against NMIBC.