• Childhood Kidney Diseases
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• v.28 no.1
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• pp.8-15
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• 2024

With the rapid evolution of diagnostic tools, particularly next-generation sequencing, the identification of genetic diseases, predominantly those with pediatric-onset, has significantly advanced. However, this progress presents challenges that span from selecting appropriate tests to the final interpretation of results. This review examines various genetic testing methodologies, each with specific indications and characteristics, emphasizing the importance of selecting the appropriate genetic test in clinical practice, taking into account factors like detection range, cost, turnaround time, and specificity of the clinical diagnosis. Interpretation of variants has become more challenging, often requiring further validation and significant resource allocation. Laboratories primarily classify variants based on the American College of Medical Genetics and Genomics and the Association for Clinical Genomic Science guidelines, however, this process has limitations. This review underscores the critical role of clinicians in matching patient phenotypes with reported genes/variants and considering additional factors such as variable expressivity, disease pleiotropy, and incomplete penetrance. These considerations should be aligned with specific gene-disease characteristics and segregation results based on an extended pedigree. In conclusion, this review aims to enhance understanding of the complexities of clinical genetic testing, advocating for a multidisciplinary approach to ensure accurate diagnosis and effective management of rare genetic diseases.

• Journal of the Korean Society of Radiology
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• v.84 no.6
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• pp.1233-1243
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• 2023

Percutaneous ultrasound-guided biopsy is useful for the pathologic confirmation of variable body lesions to establish diagnostic and therapeutic approaches. However, deep pelvic lesions are a challenge for pathologic diagnoses because of the presence of the bowel, bladder, major vessels, and pelvic bones which make a percutaneous approach difficult and dangerous. In female, the vagina is elastic and near the pelvic internal organs. Therefore, transvaginal ultrasound may serve as an effective and safe guide for the pathologic diagnosis of pelvis lesions. This review aimed to introduce the indications for, and the method of transvaginal ultrasoundguided biopsy, and to describe the reported diagnostic accuracy and safety.

• Clinics in Shoulder and Elbow
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• v.27 no.1
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• pp.108-116
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• 2024

Reverse total shoulder arthroplasty (RTSA) is widely popular among shoulder surgeons and patients, and its prevalence has increased dramatically in recent years. With this increased use, the indicated pathologies associated with RTSA are more likely to be encountered, and challenging patient presentations are more likely to be seen. One prominent challenging presentation is RTSA patients with severe glenoid bone loss. Several techniques with varying degrees of invasiveness, including excessive reaming, alternate centerline, bone grafting, and patient-specific implants (PSIs), have been developed to treat patients with this presentation. PSI treatment uses a three-dimensional reconstruction of a computed tomography scan to design a prosthetic implant or component customized to the patient's glenoid morphology, allowing compensation for any significant bone loss. The novelty of this technology implies a paucity of available literature, and although many studies show that PSIs have good potential for solving challenging shoulder problems, some studies have reported questionable and equivocal outcomes. Additional research is needed to explore the indications, outcomes, techniques, and cost-efficiency of this technology to help establish its role in current treatment guidelines and strategies.

• Clinical and Experimental Pediatrics
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• v.50 no.5
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• pp.469-475
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• 2007

Purpose : This study was performed to compare the safety, efficacy and clinical results of the Amplatzer septal occluder (ASO) for closure of secundum atrial septal defect (ASD) with surgery. Methods : One hundred fifteen patients diagnosed as isolated secundum ASD in Gil Medical Center, Gachon University of Medicine from January 2000 to July 2006 were included. Seventy patients underwent surgical repair of ostium secundum ASD. Forty-five consecutive patients were treated with percutaneous closure using ASO. We compared the mortality, morbidity, hospital stay, and efficacy between two groups. Results : Male to female ratio was 1:2.4. The mean age and the size of defects were not statistically different. No mortality occurred in either group. The success rate was 97.8% in the device group and 100% in the surgical group. The overall rate of complications was higher in the surgical group than in the device group (64.0 vs. 15.6%, P<0.05). Hospital stay was shorter in the device group than in the surgical group ($4.2{\pm}1.2$ vs. $12.4{\pm}4.7days$, P<0.0001). Residual shunt rates were more frequent in the device group (8.9%) than in the surgical group (4.3%) at discharge. All residual shunts disappeared at 3 months follow-up. Conclusion : Percutaneous closure of ASD using ASO is a safe and effective alternative to surgical repair. The indications of percutaneous ASD closure with ASO would be expanded by accumulation of experiences and evolutions of device.

• Journal of Chest Surgery
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• v.49 no.4
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• pp.250-257
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• 2016

Background: Generalization of standardized surgical techniques to treat aortic valve (AV) and aortic root diseases has benefited large numbers of patients. As a consequence of the proliferation of patients receiving aortic root surgeries, surgeons are more frequently challenged by reoperative aortic root procedures. The aim of this study was to evaluate the outcomes of redo-aortic root replacement (ARR). Methods: We retrospectively reviewed 66 patients (36 male; mean age, $44.5{\pm}9.5years$) who underwent redo-ARR following AV or aortic root procedures between April 1995 and June 2015. Results: Emergency surgeries comprised 43.9% (n=29). Indications for the redo-ARR were aneurysm (n=12), pseudoaneurysm (n=1), or dissection (n=6) of the residual native aortic sinus in 19 patients (28.8%), native AV dysfunction in 8 patients (12.1%), structural dysfunction of an implanted bioprosthetic AV in 19 patients (28.8%), and infection of previously replaced AV or proximal aortic grafts in 30 patients (45.5%). There were 3 early deaths (4.5%). During follow-up (median, 54.65 months; quartile 1-3, 17.93 to 95.71 months), there were 14 late deaths (21.2%), and 9 valve-related complications including reoperation of the aortic root in 1 patient, infective endocarditis in 3 patients, and hemorrhagic events in 5 patients. Overall survival and event-free survival rates at 5 years were $81.5%{\pm}5.1%$ and $76.4%{\pm}5.4%$, respectively. Conclusion: Despite technical challenges and a high rate of emergency conditions in patients requiring redo-ARR, early and late outcomes were acceptable in these patients.

• Clinics in Shoulder and Elbow
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• v.17 no.2
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• pp.68-76
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• 2014

Background: Recently, reverse total shoulder arthroplasty (RTSA) has been accepted as a main treatment option in irreparable massive rotator cuff tear with cuff arthropathy. The purpose of this study was to evaluate the early complication incidence and the preliminary clinical results of RTSAs performed in single institute. Methods: Fifty-seven RTSAs (56 patients) were performed between April 2011 and March 2013. The indications for RTSA were cuff tear arthropathy and irreparable massive rotator cuff tear with or without pseudoparalysis. Exclusion criteria were revision, preoperative infections and fractures. At final follow-up, 45 shoulders were enrolled. Mean follow-up duration was 12.5 months (range, 6-27 months). The mean age at the time of surgery was 73.6 years (range, 58-87 years). All the patients were functionally accessed via Constant score, American Shoulder and Elbow Surgeons (ASES) score, pain and functional visual analogue scale (VAS) scores and active range of motion. Complications were documented as major and minor. Major complications include fractures, infections, dislocations, nerve palsies, aseptic loosening of humeral or glenoid components, or glenoid screw problems. Minor complications include radiographic scapular notching, hematomas, heterotopic ossification, algodystrophy, intraoperative dislocations, intraoperative cement extravasation, or radiographic lucent lines of the glenoid. Results: The mean Constant score increased from 31.4 to 53.8 (p < 0.001). The pain and functional VAS scores improved (5.2 to 2.7, p < 0.001, 4.0 to 6.7, p < 0.001) and active forward flexion improved from $96.9^{\circ}$ to $125.6^{\circ}$ (p = 0.011). One or more complications occurred in 16 (35.6%) of 45 shoulders, with one failure (2.2%) resulting in the removal of implants by late infection. The single most common complication was scapular notching (9 [20%]). There were 4 (8.9%) axillary nerve palsies postoperatively (n=3: transient n. palsy, n=1: Symptom existed at 11 months postoperatively but improving). Conclusions: In a sort term follow-up, RTSA provided substantial gain in overall function. Most common early complications were scapular notching and postoperative neuropathy. Although overall early complication rate was as high as reported by several authors, most of the complications can be observable without compromise to patients' clinical outcome. Long term follow-up is required to clarify the clinical result and overall complication rate.

• Journal of Oriental Neuropsychiatry
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• v.20 no.3
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• pp.15-33
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• 2009

Objectives : To study for classifying indications and procedure of historical changes, as a preliminary study, we collected and arranged prescriptions of headaches in medical documents after "Hwang-Je-Nae-Gyeong". Methods : 1. The researcher reviewed books, as a bibliography, recording to associate with a headaches in "UI-Bu-Jeon-Rok". 2. In reference books, we collected and arranged the herb medicines related to headaches in chapter of them. 3. In case of no chapter associated with headaches in books, we found prescriptions related to headaches and rearranged them. 4. Applied or added herb medicines were excluded, if the chief virtue was not primarily for headaches. 5. Prescriptions for signs to headaches related to dizziness were excluded. 6. Prescriptions for signs to associated with tremor were excluded. 7. We excluded prescriptions of headaches for dermatological disease. Results and conclusions : 1. Thirty seven documents were referred to the section of a headche in "UI-Bu-Jeon-Rok". 2. Prescriptions of "Sang-Han-Ron", which were related to headaches, were repeatedly quoted in chinese medical publications. 3. Nameless prescriptions of headaches were recorded from earlier books to later publications. 4. It started to record prescriptions of headaches separately from "Hawl-In-Seo" in 1107. 5. Described how to discriminate Naesang from Oegam, but prescriptions of headache were not listed in Dongwon Yi's "Nae-Oe-Sang-Byeon-Hok-Ron" which was published in 1247.

• Korean Journal of Oriental Medicine
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• v.13 no.2 s.20
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• pp.101-112
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• 2007

Objective : This study was aimed to review the trend of clinical research articles of acupuncture and moxibustion from the year of 1995 to 2006. Methods : The retrieving and analyzing period were from January 1995 to July 2006. Articles were collected by retrieving Pubmed database. Search terms were as follows; 'Acupuncture', 'Acupuncture & Meridian', 'Moxibustion'. After reviewing articles by our pre-defined criteria, Correlation was assessed qualitatively between contents of the final selected articles and those of Korea Institute of Oriental Medicine. Results : The number of acupuncture research articles have increased with higher rate since the year of 2000. In the field of medical devices, the articles were sparsely existed. The percentage of clinical acupuncture research articles was 75%. However, in the category of Korean investigators' researches, it was 46%. Publications by Korean investigators were concentrated to several specific journals of which their impact factor were below 1 point. Conclusion : There needs more qualifying studies in acupuncture studies which are represented by impact factor in Journal Citation Reports. It is necessary to research and develop the medical devices quantatively rating the outcome of acupuncture trials. The secondary research, such as, systematic reviews, meta-analysis, would be a key approach to evaluate the effectiveness and safety of acupuncture treatments. Moxibustion research would be noticeable in regard to its historical effectiveness and its variable indications.

• Herbal Formula Science
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• v.23 no.1
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• pp.67-76
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• 2015

Objectives : This Study aims to search for the actual prescriptions worth being Insured Herbal Mixture Extracts(IHME), which frequently used frequently in the clinical settings by comparing clinical prescriptions with the list of prescriptions covered under the national health insurance system. Methods : By making comparisons of the herb weight ratios of IHME with those recorded in EMR, the frequency is measured on the basis of the IHME and the frequency indication is computed for the clinical prescriptions with lower level of differences. Results & Conclusions : On the basis of the details of the clinical prescriptions used at the EMR, we have found out that many clinical prescriptions of EMR are similar for banhasasim-tang, banhabaekchulcheonmatang, bojungikgi-tang and jaeumganghwa-tang in the national health insurance system. And we could analyze indications of those prescriptions. So, if we can make a similarity criteria of prescriptions and this methods are used at nationwide research, we will be able to obtain a satisfactory result in study, medical industry and clinics.

• Journal of Korean Neurosurgical Society
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• v.48 no.4
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• pp.347-353
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• 2010

Objective : Iliac screw fixation has been used to prevent premature loosening of sacral fixation and to provide more rigid fixation of the sacropelvic unit. We describe our technique for iliac screw placement and review our experience with this technique. Methods : Thirteen consecutive patients who underwent spinopelvic fixation using iliac screws were enrolled. The indications for spinopelvic fixation included long segment fusions for spinal deformity and post-operative flat-back syndrome, symptomatic pseudoarthrosis of previous lumbosacral fusions, high-grade lumbosacral spondylolisthesis, lumbosacral tumors, and sacral fractures. Radiographic outcomes were assessed using plain radiographs, and computed tomographic scans. Clinical outcomes were assessed using the Oswestry Disability Index (ODI) and questionnaire about buttock pain. Results : The median follow-up period was 33 months (range, 13-54 months). Radiographic fusion across the lumbosacral junction was obtained in all 13 patients. The average pre- and post-operative ODI scores were 40.0 and 17.5, respectively. The questionnaire for buttock pain revealed the following : 9 patients (69%) perceived improvement; 3 patients (23%) reported no change; and 1 patient (7.6%) had aggravation of pain. Two patients complained of prominence of the iliac hardware. The complications included one violation of the greater sciatic notch and one deep wound infection. Conclusion : Iliac screw fixation is a safe and valuable technique that provides added structural support to S1 screws in long-segment spinal fusions. Iliac screw fixation is an extensive surgical procedure with potential complications, but high success rates can be achieved when it is performed systematically and in appropriately selected patients.