• Journal of Life Science
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• v.29 no.7
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• pp.800-808
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• 2019

Charcot-Marie-Tooth disease (CMT) is a group of rare peripheral neuropathies characterized by progressive muscle weakness and atrophy and areflexia in the upper and lower extremities. The most common subtype of CMT is CMT1A, which is caused by a tandem duplication of the PMP22 gene in the 17p12 region. Patients with CMT1A show a loose genotype-phenotype correlation, which suggests the existence of secondary genetic or association factors. Recently, polymorphisms of rs71428439 (n.83A>G) and rs2292832 (n.86T>C) in the MIR149 have been reported to be associated with late onset and mild phenotypic CMT1A severity. The aim of this study was to examine the intrafamilial heterogeneities of clinical phenotypes according to the genotypes of these two SNPs in MIR149. For this study, we selected 6 large CMT1A families who showed a wide range of phenotypic variation. This study suggested that both SNPs were related to the onset age and severity in the dominant model. In particular, the AG+GG (n.83A>G) and TC+CC genotypes (n.86T>C) were associated to late onset and mild symptoms. Motor nerve conduction velocity (MNCV) was not related to the MIR149 genotypes. These results were consistent with the previous studies. Therefore, we suggest that the rs71428439 and rs2292832 variants in MIR149 may serve as genetic modifiers of CMT1A intrafamilial phenotypic heterogeneity, as they have a role in the unrelated patients. This is the first study to show an association using large families with variable clinical CMT1A phenotypes. The results will be helpful in the molecular diagnosis and treatment of patients with CMT1A.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.78-86
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• 2018

Purpose: We aimed to delineate clinical spectrum and short-term effects after enzyme replacement therapy (ERT) for 5 mucopolysaccharidosis type II (MPS II). Methods: Five patients were diagnosed with MPS II by clinical findings, enzyme activity, and genetic testing. Idursulfase was administered by intravenous infusion at a dose of 0.5 mg/kg every week. Observational chart analysis of patients, who underwent systematic investigations more than 12 months after initiation of ERT was done retrospectively. Results: Three patients were classified as having the attenuated type, and 2 patients were classified as having the severe type. The median age at the diagnosis was 9.6 years (range 3.4-26 years). Four different mutations in 5 Korean patients (4 families) with MPS II were identified, among which two were novel mutations (1 small insertion mutation: p.Thr409Hisfs*22, and 1 missense mutation: p.Gly134Glu). Two severe type sibling patients with the same mutation had different clinical manifestation. Urinary glycosaminoglycan excretion decreased within the twelve months of ERT (P=0.043). Liver and spleen volumes showed reductions that were maintained in all patients (P=0.043 and P=0.043, respectively). Improvements were also noted in left ventricular mass index (P=0.042), shoulder flexion (P=0.043), shoulder abduction (P=0.039), knee flexion (P=0.043), elbow flexion (P=0.042), and respiratory distress index (P=0.041). Conclusion: This study demonstrates that Korean patients with MPS II are clinically heterogeneous and indicates that idursulfase is relatively effective in several clinical parameters including heart size and respiratory distress index without infusion-related reactions in patients with MPS II.

• Sleep Medicine and Psychophysiology
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• v.25 no.2
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• pp.68-73
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• 2018

Objectives: The purpose of this study was to explore insomniac demographic characteristics and the type of consultation provided to hospitalized patients asked to the Department of Psychiatry for insomnia and to compare patient insomnia characteristics by consultation type. Methods: We performed a retrospective chart review of 4,966 patients who were hospitalized from August 1, 2005 to December 31, 2011 that received consultation in the Department of Psychiatry. Among them, 236 patients were referred for insomnia. We compared the differences in demographic characteristics and types of consultation between the insomnia patient group and other patient group. We also compared the difference between demographic characteristics and type of consultation by dividing total subjects into 'with reconsultation' and 'without reconsultation' groups. Results: Our results came from the analysis of 9,689 consecutive consultation requests. There were 4,966 patients that participated in the study over 6 years and 6 months. The overall consultation rate was 3.3% of all admissions and insomnia patients comprised 4.8% of those. The ratio of re-consultation for insomnia was 27.5%. There was no significant difference in mean age between the insomnia 'with reconsultation group' and the insomnia 'without reconsultation group', but the 'with reconsultation' group had significantly more male patients and medical patients than the 'without re-consultation' group. For insomnia patients, consultation types were in the order of Mending request (51.3%), Paralle request (36.6%), Complementary request (9.0%) and this composition differed from that of total admission patients. Conclusion: Hospitalized patients referred for insomnia showed a higher proportion of male patients, lower rates of re-consultation compared with other patients, and most of these were for secondary insomnia. Each doctor should be aware of the possibility of inpatient insomnia, conduct positive assessments and referrals as necessary, and psychiatrists who might be asked for consultation need to prepare an active intervention with initial diagnosis and treatment, as well as recommendations for the timing of reconsultation.

• Journal of the Korean Orthopaedic Association
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• v.53 no.6
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• pp.498-504
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• 2018

Purpose: To evaluate the clinical and radiological outcomes, and the complications of unicompartmental knee arthroplasty (UKA) using a fixed bearing prosthesis after 5-year follow-up. Materials and Methods: Twenty-six knees (25 patients) that underwent fixed bearing UKA between May 2003 and August 2011 were included. The subjects were 3 males (3 knees) and 22 females (23 knees), and the average age was 63.5 years. The preoperative diagnosis was osteoarthritis (23 knees) and osteonecrosis (3 knees). The mean follow-up duration was 67 months (from 60 to 149 months). The clinical evaluation included pre- and postoperative American knee society knee and function score, and range of motion. The radiology evaluation included standing antero-posterior, lateral view, and fluoroscopic film to analyze the postoperative alignment and osteolysis. Results: The mean American Knee Society knee score and function score were improved from 42.0 and 57.5 to 87.9 and 85.0, respectively (p<0.001). The mean preoperative and postoperative range of motion was $132.9^{\circ}$ and $132.5^{\circ}$, respectively. The mean femorotibial angle were varus $0.5^{\circ}$ preoperatively and valgus $2.2^{\circ}$ postoperatively. A radiolucent line was observed in 2 knees; one knee had a stable implant, while in the other knee, patellofemoral arthritis was identified during UKA. Diffuse pain of the knee joint with tenderness of the medial joint line was identified at the follow-up, so conversion to total knee arthroplasty was recommended. No other complications, such as osteolysis, infections, postoperative stiffness, and dislocation, were encountered. Conclusion: The midterm results of fixed bearing UKA were clinically and radiologically satisfactory.

• The Korean Journal of Vision Science
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• v.20 no.4
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• pp.543-551
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• 2018

Purpose : The purposes of this study were to evaluate the changes of intraocular pressure according to corneal ablation amount after corneal refractive surgery and the changes of intraocular pressure according to refractive errors before corneal refractive surgery. Methods : The mean age of adults who underwent LASIK corneal refractive surgery were $37.34{\pm}7.42years$, and 108 adults(48 males, 60 females) were participated in this study. Refractive errors, intraocular pressure, and corneal ablation amount were measured using an autorefractor, a noncontact tonometer, and an excimer laser. All test values were considered statistically significant when p<0.05. Results : The mean intraocular pressure before corneal refractive surgery was $15.08{\pm}2.60mmHg$ in males and $14.16{\pm}2.67mmHg$ in females. The decrease of intraocular pressure after corneal refractive surgery were 4.22mmHg in males and 3.61mmHg in females. Spherical equivalent power were $-3.89{\pm}2.17D$ in males and $-4.45{\pm}2.92D$ in females before corneal refractive surgery, and $-0.10{\pm}0.46D$ in males and $-0.04{\pm}0.46D$ in females after corneal refractive surgery. The corneal ablation amount after corneal refractive surgery were statistically significant, with $53.95{\mu}m$ in males and $61.26{\mu}m$ in females. There was significant correlation between corneal ablation amount and decrease of intaocluar pressure(r=0.2299, p<0.001). As the growth of corneal ablation amount in males, the decrease of intraocular pressure was significantly increased. As the growth of refractive error, the amount of decrease in intraocular pressure was also significant. The decrease of intraocualr pressure were $3.04{\pm}2.18mmHg$ in low refractive error, $4.10{\pm}2.16mmHg$ in middle refractive error, and $4.65{\pm}3.29mmHg$ in high refractive error. Conclusion : We found that intraocular pressure decreased after corneal refractive surgery by noncontact tonometer and the change of intraocular pressure which is an important index for glaucoma diagnosis, may affect the judgment of eye disease. We think that a preliminary questionnaire whether corneal refractive surgery is necessary for the measurement of intraocular pressure.

• Pediatric Infection and Vaccine
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• v.25 no.3
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• pp.156-164
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• 2018

Purpose: We aimed to identify the epidemiology and the clinical characteristics of human parainfluenza virus type 4 (HPIV-4) infection compared to HPIVs 1-3 infections in Korean children. Methods: We reviewed medical records of children with HPIV infection who visited Seoul National University Children's Hospital from 2015 to 2017. Detection of respiratory viruses was performed using real time-polymerase chain reaction (rt-PCR), which could differentiate HPIVs 1-4. Diagnosis was classified as a febrile illness, upper respiratory tract infection (URI), croup, bronchiolitis, or pneumonia. The epidemiology, demographic features, and clinical characteristics among HPIV types were compared. The clinical data were analyzed only for the previously healthy children. Results: Of the 472 children diagnosed with HPIV infection, 108 (22.9%) were previously healthy: 24 (22.2%), 19 (17.6%), 39 (36.1%), and 26 (24.1%) in HPIV types 1, 2, 3, and 4, respectively. The median age of children with HPIV-4 infection was 11 (0-195) months: the proportion of children aged < 2 years and 2 to < 5 years were 65.4% and 19.2%, respectively. Clinical diagnoses of HPIV-4 infection were bronchiolitis (38.5%), pneumonia (30.8%), and URI (30.8%). Croup was the most prevalent in HPIV-2 (21.1%) and none in HPIV-4 infection (P=0.026). Hospital admission rates among HPIV types were not significantly different (P>0.05). Conclusions: We observed seasonal peak of HPIV-4 infection in 2015 and 2017. HPIV-4 was a common respiratory pathogen causing lower respiratory tract infection in hospitalized children.

• Korean Journal of Clinical Laboratory Science
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• v.50 no.4
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• pp.449-456
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• 2018

Cervical cancer is the fourth most frequently diagnosed cancer in women worldwide. In lower Human Development Index countries, it has the second highest incidence and mortality among cancer in women. Therefore, better diagnosis and treatment systems are needed. Among them, estrogen receptor alpha ($ER-{\alpha}$) mRNA expression has been analyzed with RT-qPCR since several studies reported that $ER-{\alpha}$ is necessary in the maturation of the uterus and is related to cervical cancer. In this study, $ER-{\alpha}$ quantitative analysis was performed on various lesions and normal tissue samples. Based on the receiver operating characteristic (ROC) curve, its sensitivity and specificity were 85% and 75%, respectively, showing higher or similar results to those of conventional HPV tests. In addition, its expression level was analyzed with clinical information. With regression analysis, the R square value between the $ER-{\alpha}$ mRNA expression level and menopause status was 0.5041, indicating a strong correlation. This study was performed as part of a pilot study and suggests that $ER-{\alpha}$ is related to carcinogenesis. Future studies will examine other hormones and menopausal factors with a larger sample size.

• Journal of the Korean Institute of Traditional Landscape Architecture
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• v.29 no.1
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• pp.59-70
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• 2011

The purpose of this study is to present raw data to systematically and rationally manage the protected trees located in Changwon-si, Korea. This study investigated about the present condition and the information of location, individual, management, health and soil. The results are as follows. The protected trees were located in 26 spots, and species of trees were 9 taxa; Zelkova serrata, Celtis sinensis, Aphananthe aspera, Ginkgo biloba, Carpinus tschonoskii, Pinus densiflora for. multicaulis, Quercus variabilis, Pinus densiflora and Salix glandulosa. In protected tree types, shade trees were the most, and the majority of theirs were 200 years or more in age. The range of altitude was 14~173m, and the number of trees located in flat fields was the most. For location types, village and field and mountain were presented in the order and, in land use, land for building was the most. The range of height was 8.0~30.0m, 0.6~5.1m in crown height, 240~700cm in diameter of breast and 210~800cm in diameter of root. In case of crown area, Zelkova serrata of No.5 was most large. The status boards were mostly installed except No.23 and No.26. The sites with fence were 9 spots, and the site with stonework were 14 spots. The sites with the support beam were 5 spots, and most sites were not covered up with soil. The materials of bottom were soil, gravel and vegetation in the order. The range of withering branch rate was 0~40%, and peeled bark rate was 0~60%. The sites made holes were 23 spots, and the hole size of Aphananthe aspera of No.12 was the largest. The sites disturbed by human trampling were 7 spots, the sites by disease and insects of 2 spots, the sites by injury of 23 spots and the sites by exposed roots of 13 spots. In the results of soil analysis, there showed that acidity was pH 4.5~8.0, organic matter content of 3.5~69.8g/kg, electrical conductivity(EC) of 0.11~2.87dS/m, available $P_2O_5$ of 3.0~490.6mg/kg, exchangeable K of 0.10~1.05cmol+/kg, exchangeable Ca of 1.41~16.45cmol+/kg, exchangeable Mg of 0.37~1.96cmol+/kg, exchangeable Na of 0.25~2.41cmol+/kg and cation exchange capacity(C.E.C) of 8.35~26.55cmol+/kg.

• The Korean Journal of Nuclear Medicine Technology
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• v.25 no.2
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• pp.25-28
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• 2021

Purpose CA 72-4 is a tumor marker that uses two monoclonal antibodies, CC49 and B72.3, to measure tumor-related glycoprotein(TAG72) in the serum. CA 72-4 is used to diagnose stomach, ovarian, and pancreatic cancers, and is known to perform high specificity for stomach cancer. The purpose of this study is to re-evaluate the reference value provided by the manufacturer through revalidation of the reference value in CA 72-4. Furthermore this study was conducted to provide useful help when making a clinical diagnosis at gastric cancer center. Materials and Methods We selected 271 patients who had been to health care center in national cancer center for the month of November 2020. The gender of the subjects was 140 males and 131 females, and the age group was from 30s to 60s. The reagent used in the study was a CA 72-4 IRMA KIT (ISOTOPES, Hungary) and the results were measured using a Dream Gamma-10 gamma counter (Shinjin medics, Korea). Results Statistical analysis of the results of this study used Hoffmann's method and Bayesian's method, which are primarily used in setting reference value. As a result of measuring CA 72-4 of 271 patients, the mean value was 4.54 U/mL and the median value was 3.30 U/mL. 24 people who deviated from 3SD were excluded from the measured value, the mean calculated after that was 3.53 U/mL, median was 3.00 U/mL and SD was 1.89. The reference value calculated based on this results was set to 7.31 U/mL. Conclusion The reference value provided by the manufacturer is less than 4 U/mL. It is slightly different from the value calculated in this study, 7.31 U/mL, so it seems necessary to reset the reference value according to the laboratory environment. Currently, we are receiving inquiries about the reference value from the center for gastric cancer at National Cancer Center. If additional research is carried out along with this study, it will be possible to set more accurate reference value.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.15-21
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• 2021

Purpose: Urea cycle disorder (UCD) is an inherited inborn error of metabolism, acting on each step of urea cycle that cause various phenotypes. The purpose of the study was to investigate the long-term clinical consequences in different groups of UCD to characterize it. Methods: Twenty-two patients with UCD genetically confirmed were enrolled at Pusan National University Children's hospital and reviewed clinical features, biochemical and genetic features retrospectively. Results: UCD diagnosed in the present study included ornithine transcarbamylase deficiency (OTCD) (n=10, 45.5%), argininosuccinate synthase 1 deficiency (ASSD) (n=6, 27.3%), carbamoyl-phosphate synthetase 1 deficiency (CPS1D) (n=3, 13.6%), hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) (n=2, 9.1%), and arginase-1 deficiency (ARG1D) (n=1, 4.5%). The age at the diagnosis was 32.7±66.2 months old (range 0.1 to 228.0 months). Eight (36.4%) patients with UCD displayed short stature. Neurologic sequelae were observed in eleven (50%) patients with UCD. Molecular analysis identified 37 different mutation types (14 missense, 6 nonsense, 6 deletion, 6 splicing, 3 delins, 1 insertion, and 1 duplication) including 14 novel variants. Progressive growth impairment and poor neurological outcomes were associated with plasma isoleucine and leucine concentrations, respectively. Conclusion: Although combinations of treatments such as nutritional restriction of proteins and use of alternative pathways for discarding excessive nitrogen are extensively employed, the prognosis of UCD remains unsatisfactory. Prospective clinical trials are necessary to evaluate whether supplementation with BCAAs might improve growth or neurological outcomes and decrease metabolic crisis episodes in patients with UCD.