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A case of TBC1D32-related ciliopathy with novel compound heterozygous variants

  • Ahn, Ji Ye;Kim, Soo Yeon;Lim, Byung Chan;Kim, Ki Joong;Chae, Jong Hee
    • Journal of Genetic Medicine
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    • v.18 no.1
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    • pp.64-69
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    • 2021
  • Primary cilium has a signal transduction function that is essential for brain development, and also determines cell polarity and acts as a mediator for important signaling systems, especially the Sonic Hedgehog (SHH) pathway. TBC1D32 is a ciliary protein, implicated in SHH signaling. Biallelic mutations in the TBC1D32 gene causes a kind of ciliopathy, heterogeneous developmental or degenerative disorders that affect multiple organs, including the brain. Here we report a boy who carried compound heterozygous variants in TBC1D32. The patient showed hypotonia, respiratory difficulty, and multiple anomalies at his birth. He was diagnosed with congenital hypopituitarism and treated with T4, hydrocortisone, and growth hormone. Despite the hormonal replacement, the patient needed long-term respiratory support with tracheostomy and nutritional support with a feeding tube. His developmental milestones were severely retarded. Hydrocephalus and strabismus developed and both required surgery, during the outpatient follow-up. Whole-exome sequencing indicated compound heterozygous variants, c.2200C>T (p.Arg734*) and c.156-1G>T, in TBC1D32 gene. This is the first Korean case of TBC1D32-related ciliopathy and we reported detailed and sequential clinical features. This case demonstrated the utility of whole-exome sequencing and provided valuable clinical data on ultra-rare disease.

A Study on the Activities of IV Team In the Children's Hospital (소아병원의 정맥주사팀 활동에 대한 조사연구)

  • Hwang, Jeong Hae;Hwang, Jee In;Kim, Mi Ran;Shin, Hee Young;Ahn, Hyo Seop
    • Quality Improvement in Health Care
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    • v.6 no.1_2
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    • pp.92-106
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    • 1999
  • Background : In many university hospitals, intravenous(IV) therapies and samplings had been one of the most important works of doctors who are in training. However, recently as patient oriented care is becoming more weighted for qualified health service IV therapies should be the works of specialized personnels. This study was conducted to investigate the medical staff's perception on IV team, to survey patient or parent's expectation on IV team, and to assess the frequency of IV therapy related complications and the characteristics of phlebitis among the hospitalized children. Methods : We collected data prospectively before the start of IV team from February 22 to February 29. 1999 and from September 27 to October 3, 1999, 6 months after beginning of IV team at Seoul National University Children's Hospital. IV team started their activities from March 1, 1999. General pediatric wards were not included for the IV and sampling team and oncology ward and surgical units were all included for the IV and sampling team's work. IV specialist was the well trained nurse who had been working in the field of pediatrics especially for the oncology patients. The subjects of this study were medical staffs who were working in children's hospital as doctors in training and patients who were treated with IV therapies in children's hospital during the same period. Results : Doctors responded that IV team need to be organized for IV care and expected IV team could reduce their work load. Parents of patients also responded IV team was very improtant to perform high quality IV care. They had willingness to pay extra charge for IV team care. In the wards where IV team did not work, they used various kinds and sizes of catheters, but in the wards where IV team worked, they needed just one or two types of catheters. As the exact role of IV team is not still established, job description is needed between the IV team and medical doctors. In the aspects of medical costs. it could save the materials for the IV also. Conclusion : This study showed that IV team could increase patient's satisfaction with decrease of medical doctors work load and concomitantly could save the costs of IV materials. And for the expansion of the IV team, job description is needed and for the total care of the children IV specialist and sampling team should expand their roles.

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A Comparative Analysis on Korean Medical and Western Medical Service Usage Tendency of Rotator Cuff Surgery Patients - Using HIRA's Patients Sample Data

  • Khang, Hyun-jin;Lee, Hye-Yoon;Lee, Se-Yeon;Kim, NamKwen;Song, YunKyung
    • The Journal of Korean Medicine
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    • v.42 no.4
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    • pp.133-149
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    • 2021
  • Objectives: To lay the foundation for future research into Korean Medicine treatment for Rotator Cuff repair surgery patients by analyzing Korean Medical and Western Medical service utilization and treatment duration. Methods: Data sampling was performed on 2015's HIRA patient data (confidence level of 97%) to analyze patients' Korean Medical and Western Medical service usage tendency. Sampled groups were divided into two groups: i) Patients who completed their treatment within five months after the rotator cuff surgery (termination group), ii) Patients who were treated for more than five months after the surgery (continuation group). Then the patients' Korean Medical and Western Medical service usage tendency was investigated and information of these patients are arranged. Results: Out of 1,453,486 patients who were gathered for sampling, 2,461 patients in total had gone through rotator cuff repair surgery. The termination group had 517 patients and the continuation group had 541 patients. The proportion of patients who visited a Korean Medicine clinic was lower in the termination group than the continuation group. Conclusion: The continuation group received more treatments (both in Western Medicine and Korean Medicine) and spent more on medical expenses compared to the termination group. Further research is highly recommended for more efficient Western Medicine and Korean Medicine treatments and reduced medical expenditure.

A Study on Perceived Family Support and Anxiety in Hemiplegic Patients (편마비 환자가 지각한 가족지지와 불안과의 관계 연구)

  • 이명해;강현숙
    • Journal of Korean Academy of Nursing
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    • v.21 no.1
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    • pp.50-62
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    • 1991
  • The purposes of this study were to identify causal factors of Anxiety and to analyze correlation between perceived family support and anxiety in hemiplegic patients. The subjects of this study were 88 hospitalized hemiplegic patients at Kyung - Hee Oriental medicine Hospital. Data were collected by using interview with questionaire from Jan. 15 to Mar, 31, 1990. The measurement tools used by this researcher were Kang's family support scale, Spielberger's trait anxiety scale and the other anxiety scale which was developed by this researcher, approved it's reliability and validity. For the purposes of the study, the collected data were analyzed by frequency, t-test, ANOVA and the hypothesis was tested by pearson correlation, partial correlation. The results of the study were as follow. 1) The analysis of causal factor of anxiety higher anxiety these three cases ; \circled1 1st causal factor was the delayed recovery of paralyzed upper limbs(2.42$\pm$1.27). \circled2 End causal factor was the dysfunction of physical ability(2.30$\pm$1.29). \circled3 3rd causal factor was difficulty for walking(2.30$\pm$0.83) and the anxiety level(2.02$\pm$0.83) of physical factor was the highest level than any other factors. 2) The hypothesis that the more perceived family support level is the less anxiety level of patient was supported(r=-.29, p=.003). 3) The analysis of the general characteristics exerting influences on anxiety level patients ; (sex, age, marrital status, religious, education level, occupation, economic status, experience of hospitalization, care giver, the period of hospitalizatiot side of paralysis). In this analysis, any factor has not a statistical significance.(p>.05). 4) The analysis of the relationship about effective factors of family support level by the general characteristics of patient (sex, age, marrital status, religious, education level, occupation, economic status, experience of hospitalization, care giver, the period of hospitalization, side of paralysis). In this analysis, there was significant difference on perceived family support between married and bereaved patients(t=-2.68, p= .009) As a result of this study, anxiety level of physical factor was higher than any other factors (psychological factor, social factor) and the delayed recovery of paralyzed upper limbs is the largest causal factor of anxiety of physical factor. Meanwhile, the relationship between the degree of family support and the level of anxiety was negatively correlated but the degree of relationship was low. Therefore, one can infer from this study that sufficient information about recovery of physical problems and family support were effective in preventing and reducing anxiety in hemiplegic patient.

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Effects on Patient Exposure Dose and Image Quality by Increasing Focal Film Distance in Abdominal Radiography (복부 일반촬영시 초점-필름간거리 변화가 피폭선량 및 화질에 미치는 영향)

  • Kim, You-Hyun;Kwon, Soo-Il
    • Journal of radiological science and technology
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    • v.21 no.1
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    • pp.52-58
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    • 1998
  • We can and must improve the diagnostic images using available knowledge and technology. At the same time we must strive to reduce the patient's integral and entrance radiation dose. Reducing the integral dose to the patient during the radiologic procedure is a primary concern of the patient, especially the pediatric patient, the radiologist and the technologist. A 100cm focal film distance generally is used for most over-table radiography. The early x-ray tubes and screen film combinations required long exposures, which often resulted in motion artifacts. But nowaday, we have the generators and x-ray tubes that can deliver the energy necessary in a very short time and the receptors that can record the information just as rapidly. And, we performed this studies to evaluate the patient exposure dose and the image quality by increasing focal film distance in diagnostic radiography. There are many factors which affected to exposure factor, but we studied to verify of FFD increase, only. Effect of increasing the focal film distance to a 140 cm distance was tested as follows; 1. The focal film distances were set at 100, 120, and 140cm. 2. A 18cm acryl(tissue equivalent) phantom was placed on the table top. 3. An Capintec 192 electrometer with PM 05 ion chamber was placed at the entrance surface of the phantom, and exposure were made at each focal film distances. 4. The procedure was repeated in the same manner as above except the ion chamber was placed beneath the phantom at the film plane. 5. Exit exposure were normalize to 8mR for each portions of the experiment. Based on the success of the empirical measurements, a detailed mathematical analysis of the dose reduction was performed using the percent depth dose data. The results of this study can be summerized as followings ; 1) Increasing FFD from 100 cm to 140 cm, we would create a situation that would have a significant effect on the overall quality of radiograph and achive the 17.42% reduction of entrance dose and the 18.95% reduction of integral dose that the patient receives. 2) Thickness of Al step wedge for equal film density increased with the long distance. 3) Increasing FFD, Magnification of image was lowered. 4) Resolution of image also increased with the FFD. As the results described above, we strongly recommend using the long FFD to provide better information for our patients and profession in abdomen radiographic studies.

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Development of PC Based Signal Postprocessing System in MR Spectroscopy: Normal Brain Spectrum in 1.5T MR Spectroscopy (PC를 이용한 자기공명분광 신호처리분석 시스템 개발: 1.5T MR Spectroscopy에서의 정상인 뇌 분광 신호)

  • 백문영;강원석;이현용;신운재;은충기
    • Investigative Magnetic Resonance Imaging
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    • v.4 no.2
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    • pp.128-135
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    • 2000
  • Purpose : The aim of this study is to develope the Magnetic Resonance Spectroscopy(MRS) data processing S/W which plays an important role as a diagnostic tool in clinical field. Materials and methods : Post-processing software of MRS based on graphical user interface(GUI) under windows operating system of personal computer(PC) was developed using MATLAB(Mathwork, U.S.A.). This tool contains many functions to increase the quality of spectrum data such as DC correction, zero filling, line broadening, Gauss-Lorentzian filtering, phase correction, etc. And we obtained the normal human brain $^1H$ MRS data from parietal white matter, basal ganglia and occipital grey matter region using 1.5T Gyroscan ACS-NT R6 (philips, Amsterdam, Netherland) MRS package. The analysis of the MRS peaks were performed by obtaining the ratio of peak area. Results : The peak ratios of NAA/Cr, Cho/Cr, MI/Cr for the different MRS machines have a little different values. But these peak ratios were not significantly different between different echo time MRS peak ratios in the same machine (p<0.05). Conclusion : MRS post-processing S/W based on GUI using PC was developed and applied to the analysis of normal human brain $^1H$ MRS. This independent MRS processing job increases the performance and throughput of patient scan of main console. Finally, we suggest that the database for normal in-yivo human MRS data should be obtained before clinical applications.

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A Study on the Radio Transmission of Bio-Signal for Tele-Medicine (원격진료를 위한 생체신호의 무선전송에 대한 연구)

  • 김정년;곽준혁;최조천;조학현
    • Journal of the Korea Institute of Information and Communication Engineering
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    • v.6 no.3
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    • pp.379-385
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    • 2002
  • Tele-medicine and emergency medical system are necessary for moving from an accidental point or far distance to a hospital and emergency treatment or home treatment before a hospital. Emergency treatment is extremely important in the case of death before arriving a hospital and deformed of disabled by medical treatment delay. A necessary element for this medical system is the emergency communication system. This system is on preparing for an ability of furnishing patient status to a corresponding health service by monitoring the patient at an ambulance of the accident place. This is the transportation of basic biological information of a patient to a medical center by wireless communication system and the corresponding hospital of medical center examine the patient by monitoring, then they can send emergency medical order to the patient for emergency treatment. The TRS is most efficient way of emergency medical communication system, which is currently used with popularity. In this paper studied simultaneously a way of detecting and transporting bio-logical signals, and monitoring of transporting data with communication of voice in the accident place of ambulance.

Study on Status Changes in Female Infertility who Admitted to Oriental Hospital (한방병원에 내원한 여성 불임 환자의 실태 변화 연구)

  • Jang, Hee-Jae;Kim, Jin-Hwan;Hwang, Deok-Sang;Lee, Jin-Moo;Lee, Chang-Hoon;Cho, Jung-Hoon;Jang, Jun-Bock;Lee, Kyung-Sub
    • The Journal of Korean Obstetrics and Gynecology
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    • v.23 no.3
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    • pp.184-191
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    • 2010
  • Purpose: Examine changes in the aspect and state of patient with infertility who admitted to Korean oriental hospital. Look at the changes in last 8 years and seek how oriental medicine can approach to infertility patients who admitted to Korean oriental hospital in last 8 years. Methods: Total of 7434 new patients with infertility who admitted to Gynecology of Oriental Hospital, $\bigcirc\bigcirc$ University Medical Center, from October 2002 to December 2009 was compared to infertility patients based on bottom collected data in this study, total of 1061 infertility patients were targeted for this study. Results: 1.There is no distinct increases in age between women who admitted to oriental medicine and patient's average age, it has shown constantly increasing trend in their age though. However, the average age of infertility patients have shown significant increasing range than average age of all infertility patients. 2. After analysis the result of infertility patient's rate of overall patients, the rate of infertility patients are remaining the same or slowing down in 2005, as the starting year(Table 2). The significant relationship was found in diagnosis and treatment of gynecology(Table 4~5) for infertility patients. In 2005 as the starting year, as patients who admitted to oriental hospital after diagnosed or treated at gynecology are increasing, the rate of infertility patients of overall patients admitted to hospital is slowing down, which is decreasing. 3. There is increasing number of patient diagnosed with "unknown cause" who admitted to Gynecology of Oriental Hospital after year of 2005. 4. The increasing number of patient diagnosed with "unknown cause" who admitted to oriental hospital has a tendency to be important factor in infertility treatment of oriental medicine. Conclusion: Unknown causes of infertility patients who admitted to oriental hospital will continuously increase as senses of society, economic, and social climate change.

A Study on the Effect of Time Lapse After Position Change and Abdominal Band on Pulmonary Function in the Cervical Cord Injuries (척수손상 환자의 자세 변화 후 시간경과와 복대사용이 폐기능에 미치는 영향)

  • Lee, Jae-Ho;Park, Chang-Il;Chon, Joong-Sun
    • Physical Therapy Korea
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    • v.4 no.3
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    • pp.17-33
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    • 1997
  • The objective of this study was to identify pulmonary functional variations in relation to postural changes, lapse after changing position, and the use of abdominal band in the cervical cord injured. The subjects of this study were 19 quadriplegic patients who had been admitted to the department of the Rehabilitation Hospital, College of Medicine, Yousei University, from April, 1997 through May 3, 1997. A spiroanalyzer was used to measure pulmonary function in supine, standing, time after changing position, and recording to the position, application method, and tightness of the abdominal band. The data were analyzed by the repeated measure one-way ANOVA, and Wilcoxon signed rank test. The findings were as follows: 1. All phase of the patients' pulmonary function improved significantly in supine posture in contrast to standing (vital capacity by $0.46{\ell}$ and expiratory reserve volume by $0.09{\ell}$). 2. The longer the time lapsed from supine posture to standing, the patient's expiratory reserve volume, maximum ventilation volume, vital capacity, and forced expiratory volume increased. 3. When the patient lay in supine position, the maximum ventilation volume, vital capacity, and the forced vital capacity increased then the center line of the abdominal band was placed along iliac crest; on the other hand, when the patient was standing, placing the bottom line of the abdominal band along iliac crest increased the maximum ventilation volume, vital capacity, and forced expiratory volume. 4. In placing the abdominal band in the patients, leaving space between the top and bottom lines of the band helped increased in maximum ventilation volume, vital capacity, and forced vital capacity for patient in supine as well as in standing. 5. When placing the abdominal band to patients in supine posture, reducing the length of the band by 2.5% along the patient's waist line increased the patients' vital capacity, while reducing the length by 10% to patients in standing increased the maximum ventilation volume. The abdominal band should be placed in such a way that the bottom part of the band should be more tightly fastened while leaving enough room for a hand to be placed in between the body and the band for the top part of the hand. It should also be noted that in a supine position, the bottom line of the band should be placed along the iliac crest, while in standing, the center line should be placed along the iliac crest. The length of the band should also be reduced by 2.5% of the waist line in supine position, and in standing, the length should be reduced by 10%. It should also be noted that the pulmonary function of the patients should be measured at least 10 minutes after one position change.

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Factors Influencing the Activation Time of the Rapid Response Team (신속대응팀의 활성화 시간에 영향을 주는 요인)

  • Han, Mi Ra;Kang, Eun Hyoung;Lee, Yong Suk;Chang, Eun Ju;Lee, Su Jeong;Heo, Yoon A;Namgung, Seo Hwa;Seo, Seo Hee
    • Journal of Korean Clinical Nursing Research
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    • v.26 no.2
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    • pp.198-206
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    • 2020
  • Purpose: The rapid response team is a patient safety system that detects symptoms and signs of deteriorating inpatients and provides intervention and treatment. This study analyzed the factors influencing the activation time of the team. Methods: This is a descriptive correlation study that analyzed the electronic medical records of patients activated by the rapid response team. The collection period was from January 2014 to December 2017. We analyzed 278 pieces of data activated by the rapid response team for patients aged 16 years or older at C University S Hospital in Seoul. We employed the SPSS 23.0 program for data analysis. Results: The reasons for activation of the rapid response team were oxygen saturation of less than 90.0%, other causes, and change in consciousness. The most common diagnosis of activated patients was respiratory failure (32.4%). The average activation time was 153.43±286.05 min. The activation time was shortest during convulsions (13.29±7.32 min). For patients with a history of kidney disease (B=0.58, p=.008), in case of surgery (B=0.55, p<.001), if the first symptom is mediated by the physician (B=0.53, p=.007) the active time is often extended. On the other hand, activation time is reduced when consciousness changes (B=-0.51, p=.002), especially when oxygen saturation is below 90.0% (B=-0.64, p<.001). Conclusion: Based on the results of the study, it is expected that patients deteriorating in the general ward would be recognized early, which will help in the effective activation of the rapid response team.