• Journal of Genetic Medicine
• /
• v.4 no.1
• /
• pp.38-44
• /
• 2007

Purpose : Menkes disease is an X-linked recessively inherited disorder caused by the mutation of the ATP7A gene encoding copper-transporting P-type AT Pase. The phenotypic features are progressive neurological degeneration, mental retardation, loose skin, and vascular complications. Early diagnosis and treatment are very important for the prognosis of Menkes disease. Here, we describe nov el mutations of the ATP7A gene and prenatal diagnosis by mutation analysis. Methods : Five unrelated Korean Menkes patients were included in this study. They presented with depigmented wool-like hair, progressive neurologic deterioration, and hypotonia in infancy. Serum copper and ceruloplasmin levels w ere decreased. Brain magnetic resonance imaging revealed tortuous intracranial vessels. Mutation analysis has been carried out using cDNA from cultured skin fibroblasts or genomic DNA from peripheral leukocytes. Prenatal diagnosis was performed in two cases using chorionic villi samples or amniocytes. Results : Four novel mutations have been identified from four different families; c.3511+1G>A (p.E1099_N1171delinsMfsX 18), c.4005+5 G>A (p.V1268_R1335del), c.1870_2172del (p.S624_Q724del), and c.3352 G>A (p.G1118S). T he remaining one was previously reported (c.1933 C>T (p.V 1268_R1335del)). On prenatal DNA analysis, one w as diagnosed as normal, while the other turned out to be a female heterozygote with p.S624_Q724del mutation of the ATP7A gene. Conclusion : We identified 4 novel mutations of the ATP7A gene. Prenatal diagnosis in families at risk is critical in order to choose preventiv e options including an early treatment with copper-histidine therapy or therapeutic termination. Most mutations of the ATP7A gene were frame-shift mutations and prenatal diagnosis has been successfully carried out.

• The Korean Journal of Nuclear Medicine
• /
• v.34 no.4
• /
• pp.285-293
• /
• 2000

Purpose: A prospective comparison was made between imaging with Tc-99m pertechnetate (Tc-99m) and Ioine-131 (I-131) for the detection of residual and metastatic tissue after total thyroidectomy in patients with well-differentiated thyroid carcinoma. Materials and Methods: Initially our patients had imaging with Tc-99m, followed by I-131 within 3 days. The study included 21 patients who had ablation with high dose of I-131 ranging from 100 mCi to 150 mCi. Planar and pinhole images were acquired for both Tc-99m and I-131. Diagnostic images of Tc-99m and I-131 were compared with post-therapy images. Degree of uptake on Tc-99m and I-131 images was scored by four point scale and compared. Results: The results of the Tc-99m study were: 16 of 19 studies (84%) were positive on simple planar images, but 19 of 20 studies (95%) were positive on pinhole images. Conventional I-131 diagnostic imaging on the other hand showed that all studies (100%) were positive on both planar and pinhole images. There was a significant difference in degree of uptake between Tc-99m and I-131 planar images (p<0.05). Only one case of Tc-99m scintigraphy was negative on both planar and pinhole studies (false negative). There was no distant metastasis on the therapeutic I-131 images. Conclusion: Tc-99m scan using pinhole in certain clinical situations is an alternative to the I-131 scan in detecting thyroid or lymph node metastasis prior to the first ablative treatment after thyroidectomy for well-differentiated thyroid carcinoma.

• Journal of Yeungnam Medical Science
• /
• v.7 no.1
• /
• pp.81-93
• /
• 1990

The author fractographically analyized the cause of metal failure(the first time this procedure has been used for this metal failure)and also analyized it clinically. In this study, I selected eight cases which have been analyized fractographically. In all these cases, the analysis was done after treatment of metal failure of implants internally fixed to femur shaft fractures at the Department of Orthopedic Surgery, Yeung-Nam University Hospital during the six year period from May 1983 to September 1989. 1. Metal failure occured in five dynamic-compression plates, one Jewett nail, one screw in Rowe plate, and one interlocking nail. 2. The clinical cause of metal failure was deficiency of medial butress in five cases, incorrect position of implant in one case, and incorrect selection of implant in two cases. 3. The time interval between internal fixation and metal failure was four months in one case, between five months to twelve months in six cases, three years in one case. 4. The fractographically analytical cause of metal failure was ; first, impact failure, one case, second, fatigue failure, six cases, machining mark(stress liser), four cases type : low consistent cyclic fatigue failure irregular cyclic fatigue failure third, stress corrosion crack, one case. 5. 316L Stainless Steel has good resistance to corrosion. However, when its peculiar surface film is destroyed by fretting, it shows pitting corrosion. This is, perhaps, the main cause of metal failure. 6. It is possible that mechanical injury occured in implants during the manufacturing of implants or that making a screw hole is the main cause of metal failure.

• Journal of Yeungnam Medical Science
• /
• v.23 no.1
• /
• pp.52-61
• /
• 2006

Background: Korean ginseng (KG) has been used as a general tonic, and for voiding dysfunction for a long time in oriental society. However, scientific basic studies on the use of KG, have been rare, especially for voiding and erectile dysfunction. This study was performed to investigate the effects of KG on voiding and erectile function by examining the effects of total saponin (TS) on the bladder, urethral and penile cavernosal smooth muscle. Materials and methods: To examine the effects of TS, NewZeland white rabbits were used to obtain tissue strips from the smooth muscle of the bladder, proximal urethra and corpus cavernosum. Adult Sprague Dawley rats were used to examine the changes in urodynamic findings and penile erection after administration of TS. Results: In proximal urethral strips, the rate of relaxation of the proximal urethra was increased from $9.0{\pm}2.9$ to $33.7{\pm}4.8%$ in a dose-dependent manner when the concentration of TS was added accumulatively from 0.25 mg/ml to 4.0 mg/ml (p<0.05). However, no significant response was observed in the bladder strips within these concentration ranges. For the corpus cavernosal strips, the rate of relaxation ranged from $5.8{\pm}2.1$ to $36.7{\pm}5.8%$, increasing in a dose-dependent manner when TS was increased from 1.0 mg/ml to 4.0 mg/ml (p<0.05). After administration of 0.1 ml of TS (32 mg/ml) in the rat, the bladder pressure was $37.5{\pm}8.5$ mmHg at $52.1{\pm}7.0$ sec. during isovolumetric bladder contraction, showing no significant differences from $35.7{\pm}7.8mmHg$ and $50.7{\pm}7.2$ sec, respectively, before treatment. However, when 0.1 ml of TS (32 mg/ml) was administered, the relative reduction of urethral pressure was $6.9{\pm}0.5mmHg$ at $62{\pm}7.5$ sec, which was significantly higher compared to $4.6{\pm}1.1mmHg$ at $45{\pm}10$ sec before treatment (p<0.05). For the cavernosal injection study, the change in intracavernosal pressure (${\Delta}ICP$) was examined after administering 0.1 ml of TS. The cumulative additions of TS at concentrations from 0.5 mg/ml to 32 mg/ml increased ${\Delta}ICP$ from $1.3{\pm}0.5$ to $21.3{\pm}7.8mmHg$ in a dose-dependent manner (p<0.05). The duration of tumescence was from $0.3{\pm}0.1$ to $5.2{\pm}0.2$ min, showing dose-dependent increase (p<0.05). Furthermore, the cumulative addition of TS at concentrations from 0.5 mg/ml upto 32 mg/ml did not cause any significant change in systemic blood pressure. Conclusion: These results suggest that ginseng improves voiding functions, which is mainly achieved by TS relaxing the proximal urethra, the most important part of the bladder outlet function. In addition, ginseng safely induced a penile erection hemodynamically by relaxing the corpus cavernosum.

• Journal of Dental Rehabilitation and Applied Science
• /
• v.34 no.4
• /
• pp.270-279
• /
• 2018

Purpose: The aim of this study was to assess the patients' perception, acceptance, and preference of the difference between a conventional impression and digital impression through questionnaire survey. Materials and Methods: Thirteen (6 male, 7 female) subjects who experienced both digital and conventional impression at the same day were enrolled in this study. Conventional impression were taken with polyvinylsiloxane and digital impression were performed using a newly developed intra-oral scanner. Immediately after the two impressions were made, a survey was conducted with the standardized questionnaires consisting of the following three categories; 1) general dental treatment 2) satisfaction of conventional impression 3) satisfaction of digital impression. The perceived source of satisfaction was evaluated using Likert scale. The distribution of the answers was assessed by percentages and statistical analyses were performed with the paired t-test, and P < 0.05 was considered significant. Results: There were significant differences of the overall satisfaction between two impression methods (P < 0.05). Digital impression showed high satisfaction in less shortness of breath and odor to participants compared to conventional impression. The use of an oral scanner resulted in a discomfort of TMJ due to prolonged mouth opening and in lower score of the scanner tip size. Conclusion: It was confirmed that the preference for the digital impression using intraoral scanner is higher than the conventional impression. Most survey participants said they would recommend the digital impression to others and said they preferred it for future prosthetic treatment.

• Journal of the Korean Society of Radiology
• /
• v.13 no.3
• /
• pp.381-389
• /
• 2019

Although the development of Drug-eluting stent (DES) improved the ISR significantly more than the Bare metal stent (BMS), the coronary stent restenosis (ISR) treatment still has a high recurrence rate. This study is compared the efficacy of DEB with that of DES implantation in patients with ISR. Among 4,316 patients who underwent coronary stent implantation at the Chonnam National University Hospital between November 2012 and December 2016, 187 patients developed ISR on follow-up coronary angiography ($66.3{\pm}11.0years$, 123 males) were enrolled and divided into two groups according to revascularization method as group I (DEB group; n=127) and group II (DES group; n=60). Primary end point was defined as major adverse cardiac events (MACEs), composite of cardiac death (CD), myocardial infaction (MI), target lesion revascularization (TLR) and stent thrombosis (ST) during two-year follow-up between the two groups. There were no differences in the baseline characteristics and angiographic findings except that prevalence of device length was shorter ($21.1{\pm}5.3$ vs. $25.3{\pm}9.6 mm$, p<0.002) in group I.Two-year MACE were not different in the two groups (8.7%vs.10.0%, p=0.789). The incidences of cardiac death (0%vs.0%, p=1.000), MI (1.6%vs.6.7%, p=0.085), TLR(8.7% vs. 10.0%, p=0.789) and ST (0% vs. 0%, p=1000). DEB demonstrated comparable risk reduction for MACEs compared with DES in patients with ISR during two-year follow-up. DEB might be good alternative for the treatment of ISR in patients with ISR.

• Phonetics and Speech Sciences
• /
• v.11 no.1
• /
• pp.51-61
• /
• 2019

The purpose of this study was to develop a smartphone based voice therapy program for patients with voice disorders. Contents of voice therapy were collected through analysis of mobile contents related to voice therapy in Korea, experts and users' demand survey, and the program was developed using Android Studio. Content needed for voice therapy was collected through analysis of mobile contents related to voice therapy. The user satisfaction evaluation for application was conducted for five patient with functional voice disorders. The results showed that the mobile contents related to voice therapy in Korea were mostly related to breathing, followed by voice and singing, but only 13 applications were practically practiced for voice therapy. Expert and user demand surveys showed that the patients and therapists both had a high need for content that could provide voice training in places other than the treatment room. Based on this analysis, 'Home Voice Trainer', an smartphone based voice therapy program, was developed. Home Voice Trainer is an application for voice therapy and management based on Android smartphones. It is designed to train voice therapy activities at home that have been trained offline. In addition, the records of voice training of patients were managed online so that patients can maintain voice improvement through continuous voice consulting even after the end of voice therapy. User evaluations show that patients are satisfied with the difficulty and content of voice therapy programs provided by home voice trainers, but lack of a portion of user interface, such as the portion of home button and interface between screens. Further study suggests the clinical application of home voice trainer to the patients with voice disorders. It is expected that the development study and the clinical application of smart contents related to voice therapy will be actively conducted.

• The Journal of Korean society of community based occupational therapy
• /
• v.10 no.3
• /
• pp.37-52
• /
• 2020

Objective : This study was conducted to identify occupational therapists working in public health centers, the characteristics and actual conditions of occupational therapists in the community, and use them as basic data on occupational therapists in the community as of 2020. Methods : 77 questionnaires were replied by e-mail from OTs work at nationwide health public centers. Job characteristics and status were analysed by descriptive statistics and check correlation between job satisfaction and other factors. Results : Most survey respondents were female(77.9%) and 20-30(96.1%).. Some occupational therapists worked for dementia related team(72.7%) and others worked for like visiting care, health care, and rehabilitation center etc. Rate of experiences of public health center was 1-2 years(67.5%), the most common type of contract was flexible part-time worker(61%) and work intensity(94.8%) and satisfaction of work was very high(85.7%). The highest difficulty of their job was budget administrative work(26.7%) and of non-work difficulty was inequality under contracts(27.2%). They usually participated at dementia shelter, visiting OT, group OT. Difficulty of their job was high in budget administration, dementia shelters, and visiting work treatments. Goals of treatment were high in improvement of cognitive ability and, family support. Frequency of treatment was high in improvement of cognitive therapy, family support, and evaluation. Occupational therapy targets for health centers were dementia, the general elderly, and adult brain lesions, including those for ordinary people, psychiatric disorders and children. It was found that the primary occupations for evaluation were nurses (35.7%) and occupational therapists (33.7%), and that MMSE-DS, SGDS, and SMCQ were used a lot. Conclusion : This study could identify the job characteristics and status of community OTs. We hope that this result could be basic data for building expertise and role for community OTs in changing situations like community cares.

• Journal of the Korean Orthopaedic Association
• /
• v.55 no.3
• /
• pp.253-260
• /
• 2020

Purpose: Soft tissue defects of the distal lower extremity are commonly accompanied by a fracture of the lower extremities. Theses defects are caused by the injury itself or by complications associated with surgical treatment of the fracture, which poses challenging problem. The reverse superficial sural artery flap (RSSAF) is a popular option for these difficult wounds. This paper reviews these cases and reports the clinical results. Materials and Methods: Between August 2003 and April 2018, patients who were treated with RSSAF for soft tissue defects of the lower third of the leg and ankle related to a fracture were reviewed. A total of 16 patients were involved and the mean follow-up period was 18 months. Eight cases (50.0%) of the defects were due to an open fracture, whereas the other eight cases (50.0%) were postoperative complication after closed fracture. The largest flap measured 10×15 cm² and the mean size of the donor sites was 51.9 cm². The flap survival and postoperative complications were evaluated. Results: All flaps survived without complete necrosis or failure. One case with partial necrosis of the flap was encountered, but the wound healed after debridement and repair. One case had a hematoma with a pseudoaneurysmal rupture of the distal tibial artery. On the other hand, the flap was intact and the wound healed after arterial ligation and flap advancement. A debulking operation was performed on three cases for cosmetic reasons and implant removal through the flap was performed in three cases. No flap necrosis was encountered after these additional operations. Conclusion: RSSAF is a relatively simple and safe procedure for reconstructing soft tissue defects following a fracture of the lower extremity that does not require microsurgical anastomosis. This can be a useful treatment option for soft tissue defects on the distal leg, ankle, and foot.

• Journal of the Korean Society of Radiology
• /
• v.17 no.2
• /
• pp.231-242
• /
• 2023

This study aims to provide basic data to reduce the incidence of radiation dermatitis and improve patient satisfaction by investigating the management status and satisfaction level of radiation dermatitis in patients undergoing radiation therapy. From October 28, 2022, to April 4, 2023, a survey was conducted on 137 breast cancer patients who received radiation therapy at G Hospital in Busan. The Radiation Therapy Oncology Group (RTOG) cutaneous acute radiotherapy toxicity score was used as the standard for measuring skin reactions, and the association between cancer stage and RTOG was analyzed. SPSS program (ver. 18.0) was used for statistical analysis. The frequency of radiation dermatitis occurrence was relatively low, with 73% in the RTOG 0-1 group and 27% in the 2-3 group. Patient satisfaction after radiation therapy varied significantly depending on the RTOG group, with lower levels of dermatitis resulting in higher satisfaction and higher levels resulting in dissatisfaction (p=0.001). Although there was no statistically significant difference in RTOG group and skin satisfaction depending on the frequency of aloe mist use (p=0.065), the group that used it 1-2 times a day (69.3%) showed a higher satisfaction level. The perceived effects of aloe mist use were statistically significant for decreasing heat sensation (p=0.001), pain (p=0.033), itching (p=0.001), and psychological stability (p=0.027), especially in the higher RTOG groups. Additionally, as cancer stage increased, the severity of radiation dermatitis also increased, which was statistically significant (p=0.001). In conclusion, radiation dermatitis is the most common side effect of radiation therapy, and it can appear in various forms depending on individual skin sensitivity and external factors during treatment. Adequate education before treatment and the use of MD Cream and aloe vera mist are recommended to reduce the incidence and manage radiation dermatitis effectively.