PURPOSE: With the emergence of next-generation sequencing (NGS) technology, profiling a wide range of genomic alterations has become a possibility resulting in improved implementation of targeted cancer therapy. In Asian populations, the prevalence and spectrum of clinically actionable genetic alterations has not yet been determined because of a lack of studies examining high-throughput cancer genomic data. MATERIALS AND METHODS: To address this issue, 1,071 tumor samples were collected from five major cancer institutes in Korea and analyzed using targeted NGS at a centralized laboratory. Samples were either fresh frozen or formalin-fixed, paraffin embedded (FFPE) and the quality and yield of extracted genomic DNA was assessed. In order to estimate the effect of sample condition on the quality of sequencing results, tissue preparation method, specimen type (resected or biopsied) and tissue storage time were compared. RESULTS: We detected 7,360 non-synonymous point mutations, 1,164 small insertions and deletions, 3,173 copy number alterations, and 462 structural variants. Fifty-four percent of tumors had one or more clinically relevant genetic mutation. The distribution of actionable variants was variable among different genes. Fresh frozen tissues, surgically resected specimens, and recently obtained specimens generated superior sequencing results over FFPE tissues, biopsied specimens, and tissues with long storage duration. CONCLUSION: In order to overcome, challenges involved in bringing NGS testing into routine clinical use, a centralized laboratory model was designed that could improve the NGS workflows, provide appropriate turnaround times and control costs with goal of enabling precision medicine.
Academies and Institutes ; Asian Continental Ancestry Group ; DNA ; Humans ; Korea ; Methods ; Paraffin ; Point Mutation ; Precision Medicine ; Prevalence

The shoulder pain is one of the most common problems to orthopaedic surgeons in clinic. Among therapeutic modality used to manage this pain, joint and periarticular injection, as well as suprascapular nerve block, show good clinical outcome. Ultrasound guidance is a safe technique, increasing the safety and accuracy of the procedure and reducing complications. An accurate understanding of the surface anatomy is important in performing the ultrasound-guided shoulder injections. This article aims to describe the surface anatomy and sono anatomy of both the shoulder and the surrounding structures and also summarize different infiltration techniques and peripheral nerve blocks.
Arthralgia ; Nerve Block ; Peripheral Nerves ; Shoulder Joint ; Shoulder Pain ; Shoulder ; Surgeons ; Ultrasonography

BACKGROUND: This study aimed to compare the subscapularis muscle volume between the intact groups (group I) and supraspinatus tendon tear groups (group T) based on the sex and three different age groups. METHODS: Subjects with a group I and subjects with group T without any other lesions were retrospectively evaluated from among patients who received a magnetic resonance imaging (MRI) scan between January 2011 and December 2013. The MRI scans were studied by a consultant radiologist. The subscapularis muscle volume was compared according to the age and sex; the age groups were categorized as patients in their 40s, 50s, and 60s. The volume of subscapularis muscle was measured by three-dimensional reconstructed images acquired through the axial section of 1.5T MRI. RESULTS: No statistically significant differences were observed between subscapularis muscle volume of the group I and group T, except for male patients in their 50s (group I: 100,650 mm3 vs. group T: 106,488 mm3) and 60s (group I: 76,347 mm3 vs. group T: 99,549 mm3) (p<0.05). Males had a larger mean volume of subscapularis muscle than females, and the subscapularis muscle volume decreased in a linear manner with increasing age. CONCLUSIONS: Decrease in subscapularis muscle volume was observed with increasing age, and the impact of supraspinatus tear on subscapularis muscle volume is age and sex dependent.
Consultants ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Muscular Atrophy ; Retrospective Studies ; Tears ; Tendons

BACKGROUND: Iodine is an intrinsic element of thyroid hormone, which is essential for childhood growth and development. The Ideal Breast Milk (IBM) cohort study aims to evaluate the effects of maternal iodine status during pregnancy and lactation on maternal thyroid function, offspring growth and development, and offspring thyroid function. METHODS: The IBM cohort study recruited pregnant women from Seoul National University Hospital between June 2016 and August 2017, followed by enrollment of their offspring after delivery. For the maternal participants, iodine status is evaluated by urinary iodine concentration (UIC) and dietary records in the third trimester and at 3 to 4 weeks and 12 to 15 months postpartum. For the child participants, cord blood sampling and UIC measurements are performed at birth. At 3 to 4 weeks of age, UIC and breastmilk iodine concentrations are measured. At 12 to 15 months of age, growth and development are assessed and measurements of UIC, a thyroid function test, and ultrasonography are performed. RESULTS: A total of 198 pregnant women in their third trimester were recruited. Their mean age was 35.1±3.5 years, and 78 (39.4%) of them were pregnant with twins. Thirty-three (16.7%) of them had a previous history of thyroid disease. CONCLUSION: Korea is an iodine-replete area. In particular, lactating women in Korea are commonly exposed to excess iodine due to the traditional practice of consuming brown seaweed soup postpartum. The study of the IBM cohort is expected to contribute to developing guidelines for optimal iodine nutrition in pregnant or lactating women.
Breast* ; Child ; Cohort Studies* ; Cordocentesis ; Diet Records ; Female ; Growth and Development* ; Humans ; Infant ; Iodine* ; Korea ; Lactation* ; Milk, Human* ; Parturition ; Postpartum Period ; Pregnancy Trimester, Third ; Pregnancy* ; Pregnant Women ; Prospective Studies* ; Seaweed ; Seoul ; Thyroid Diseases ; Thyroid Function Tests ; Thyroid Gland* ; Twins ; Ultrasonography

PURPOSE: There are few reports from Asian countries about the long-term results of aromatase inhibitor adjuvant treatment for breast cancer. This observational study aimed to evaluate the long-term effects of letrozole in postmenopausal Korean women with operable breast cancer. METHODS: Self-reported quality of life (QoL) scores were serially assessed for 3 years during adjuvant letrozole treatment using the Korean version of the Functional Assessment of Cancer Therapy-Breast questionnaires (version 3). Changes in bone mineral density (BMD) and serum cholesterol levels were also examined. RESULTS: All 897 patients received the documented informed consent form and completed a baseline questionnaire before treatment. Adjuvant chemotherapy was administered to 684 (76.3%) subjects, and 410 (45.7%) and 396 (44.1%) patients had stage I and II breast cancer, respectively. Each patient completed questionnaires at 3, 6, 12, 18, 24, 30, and 36 months after enrollment. Of 897 patients, 749 (83.5%) completed the study. The dropout rate was 16.5%. The serial trial outcome index, the sum of the physical and functional well-being subscales, increased gradually and significantly from baseline during letrozole treatment (p<0.001). The mean serum cholesterol level increased significantly from 199 to 205 after 36 months (p=0.042). The mean BMD significantly decreased from −0.39 at baseline to −0.87 after 36 months (p<0.001). CONCLUSION: QoL gradually improved during letrozole treatment. BMD and serum cholesterol level changes were similar to those in Western countries, indicating that adjuvant letrozole treatment is well tolerated in Korean women, with minimal ethnic variation.
Aromatase ; Asian Continental Ancestry Group ; Bone Density ; Breast Neoplasms* ; Breast* ; Chemotherapy, Adjuvant ; Cholesterol ; Consent Forms ; Female ; Humans ; Observational Study ; Quality of Life*

BACKGROUND: In a previous study undertaken to quantify capsular volume in rotator cuff interval or axillary pouch, significant differences were found between controls and patients with instability. However, the results obtained were derived from two-dimensional cross sectional areas. In our study, we sought correlation between three-dimensional (3D) capsular volumes, as measured by magnetic resonance arthrography (MRA), and multidirectional instability (MDI) of the shoulder. METHODS: The MRAs of 21 patients with MDI of the shoulder and 16 control cases with no instability were retrospectively reviewed. Capsular areas determined by MRA were translated into 3D volumes using 3D software Mimics ver. 16 (Materilise, Leuven, Belgium), and glenoid surface area was measured in axial and coronal MRA views. Then, the ratio between capsular volume and glenoid surface area was calculated, and evaluated with control group. RESULTS: The ratio between 3D capsular volume and glenoid surface area was significantly increased in the MDI group (3.59 ± 0.83 cm³/cm²) compared to the control group (2.53 ± 0.62 cm³/cm²) (p < 0.01). CONCLUSIONS: From these results, we could support that capsular volume enlargement play an important role in MDI of the shoulder using volume measurement.
Arthrography ; Humans ; Retrospective Studies ; Rotator Cuff ; Shoulder

There are many methods of making cement spacer in patients who require a two-staged operation for humeral head osteomyelitis. However, limitation of motion after the first surgery—due to inadequate size and insufficient intra-articular space for second surgery—remain to be an issue. To mitigate this issue, we made a cement spacer with the same size and shape of the patient humeral head. Four patients with humeral head osteomyelitis were enrolled in this study. To make the cement spacer, we used the Mimics program, and designed the molding box by a reverse engineering technique. We evaluated the range of motion and pain using a Constant score. The mean abduction was 50° (40°–60°), forward flexion was 50° (30°–70°), and average Constant score was 47.75 (44–52). Three-dimensional printed molding technique is one of the effective methods for humeral head osteomyelitis allowing for daily activities prior to the second surgery.
Fungi* ; Humans ; Humeral Head* ; Osteomyelitis* ; Range of Motion, Articular

There are many methods of making cement spacer in patients who require a two-staged operation for humeral head osteomyelitis. However, limitation of motion after the first surgery—due to inadequate size and insufficient intra-articular space for second surgery—remain to be an issue. To mitigate this issue, we made a cement spacer with the same size and shape of the patient humeral head. Four patients with humeral head osteomyelitis were enrolled in this study. To make the cement spacer, we used the Mimics program, and designed the molding box by a reverse engineering technique. We evaluated the range of motion and pain using a Constant score. The mean abduction was 50° (40°–60°), forward flexion was 50° (30°–70°), and average Constant score was 47.75 (44–52). Three-dimensional printed molding technique is one of the effective methods for humeral head osteomyelitis allowing for daily activities prior to the second surgery.
Fungi ; Humans ; Humeral Head ; Osteomyelitis ; Range of Motion, Articular

OBJECTIVE: To investigate the interobserver and test-retest reproducibility of T1ρ and T2 measurements of lumbar intervertebral discs using 3T magnetic resonance imaging (MRI). MATERIALS AND METHODS: This study included a total of 51 volunteers (female, 26; male, 25; mean age, 54 ± 16.3 years) who underwent lumbar spine MRI with a 3.0 T scanner. Amongst these subjects, 40 underwent repeat T1ρ and T2 measurement acquisitions with identical image protocol. Two observers independently performed the region of interest measurements in the nuclei pulposi of the discs from L1–2 through L5–S1 levels. Statistical analysis was performed using intraclass correlation coefficient (ICC) with a two-way random model of absolute agreement. Comparison of the ICC values was done after acquisition of ICC values using Z test. Statistical significance was defined as p value < 0.05. RESULTS: The ICCs of interobserver reproducibility were 0.951 and 0.672 for T1ρ and T2 mapping, respectively. The ICCs of test-retest reproducibility (40 subjects) for T1ρ and T2 measurements were 0.922 and 0.617 for observer A and 0.914 and 0.628 for observer B, respectively. In the comparison of the aforementioned ICCs, ICCs of interobserver and test-retest reproducibility for T1ρ mapping were significantly higher than T2 mapping (p < 0.001). CONCLUSION: The interobserver and test-retest reproducibility of T1ρ mapping were significantly higher than those of T2 mapping for the quantitative assessment of nuclei pulposi of lumbar intervertebral discs.
Humans ; Intervertebral Disc Degeneration ; Intervertebral Disc* ; Magnetic Resonance Imaging* ; Male ; Spine ; Volunteers

PURPOSE: The goal of this study was to assess the clinicopathologic and ultrasonographic features of thyroid nodules with nondiagnostic results on repeat ultrasonography (US)-guided fineneedle aspiration biopsy (FNAB) according to size and the number of suspicious findings and to determine the proper management of nodules with consecutive nondiagnostic results. METHODS: This retrospective study included 297 nodules with nondiagnostic results on repeat FNAB that were evaluated by US over the course of at least 12 months of follow-up, a follow-up biopsy, or an operation. We compared clinical and US variables between benign and malignant nodules in thyroid nodules with repeat nondiagnostic results. RESULTS: The comparison of benign and malignant nodules with repeat nondiagnostic results revealed that age, marked hypoechogenicity, irregular or microlobulated margins, microcalcifications, and nonparallel shape were significantly associated with malignancy. Multivariate logistic regression analysis in malignant nodules revealed that microcalcifications and irregular or microlobulated margins were independently associated with malignancy. Among them, only irregular or microlobulated margins were independently significant as a predictor of malignancy in repeatedly nondiagnostic nodules measuring >10 mm. Using receiver operating characteristic analysis, the best cutoff value for the "number of suspicious findings" between benign and malignant nodules was three in nodules of all sizes, three in nodules measuring ≤10 mm, and two in nodules measuring >10 mm. CONCLUSION: Irregular or microlobulated margins may be the most frequent US features in repeatedly nondiagnostic nodules >10 mm. The presence of "two or more suspicious findings" can be used as the cutoff for distinguishing benign and malignant nodules.
Biopsy* ; Biopsy, Fine-Needle* ; Biopsy, Needle ; Follow-Up Studies* ; Logistic Models ; Retrospective Studies ; ROC Curve ; Thyroid Gland* ; Thyroid Nodule* ; Ultrasonography