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Purpose@#Bilateral axillo-breast approach robotic parathyroidectomy (BABA-RP) aims to remove overactive or enlarged parathyroid glands with no visible neck collar incision. In this study, we compared the safety and surgical outcomes of BABA-RP vs. those of an open surgery group to ascertain whether BABA-RP is a safe and feasible surgical approach for patients with primary hyperparathyroidism (pHPT). @*Methods@#This single-institution retrospective cohort study included 74 patients with primary HPT who underwent open parathyroidectomy (n = 37) or BABA-RP (n = 37) at our institution between November 2014 and March 2023. Patient demographics, biochemical cure rates, operative time, blood loss rates, and complication rates were examined and compared. @*Results@#The patients in the BABA-RP group were younger and had a longer mean operative time. Regarding complication events, 2 patients in the open surgery group and 1 patient in the BABA-RP group had transient hypoparathyroidism. All 74 patients achieved biochemical cure at <6 months, regardless of the approach used. Two patients in the BABA-RP group and 1 patient in the open surgery group had carcinoma on surgical pathology. All 3 patients with parathyroid carcinoma remained recurrence-free at 1-year follow-up. @*Conclusion@#Compared with the open procedure, BABA-RP is a safe and feasible procedure that provides an excellent biochemical cure rate for patients with pHPT and has superior cosmetic benefits with equivalent surgical outcomes.
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Objectives@#The purpose of this study was to identify any difference in user experience between tablet- and augmented reality (AR) glasses-based tele-exercise programs in elderly women. @*Methods@#Participants in the AR group (n = 14) connected Nreal glasses with smartphones to display a pre-recorded exercise program, while each member of the tablet group (n = 13) participated in the same exercise program using an all-in-one personal computer. The program included sitting or standing on a chair, bare-handed calisthenics, and muscle strengthening using an elastic band. The exercise movements were presented first for the upper and then the lower extremities, and the total exercise time was 40 minutes (5 minutes of warm-up exercises, 30 minutes of main exercises, and 5 minutes of cool-down exercises). To evaluate the user experience, a questionnaire consisting of a 7-point Likert scale was used as a measurement tool. In addition, the Wilcoxon rank-sum test was used to assess differences between the two groups. @*Results@#Of the six user experience scales, attractiveness (p = 0.114), stimulation (p = 0.534), and novelty (p = 0.916) did not differ significantly between the groups. However, efficiency (p = 0.006), perspicuity (p = 0.008), and dependability (p = 0.049) did vary significantly between groups. @*Conclusions@#When developing an AR glasses-based exercise program for the elderly, the efficiency, clarity, and stability of the program must be considered to meet the participants’ needs.
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Purpose@#As thyroid cancer patients are experiencing longer disease-free survival periods, evaluating their quality of life after surgery has become crucial. However, studies on this topic have primarily focused on Western populations, leaving a gap in understanding the Korean patient population’s experiences and needs. This study aims to address this gap and provide insights into the quality of life of thyroid cancer patients in Korea. @*Methods@#This cross-sectional study evaluated the quality of life of Korean thyroid cancer patients who underwent thyroid lobectomy or total thyroidectomy. Patients were surveyed using the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (EORTC-QLQ-C30, ver. 3.0) during outpatient clinic visits from January to September 2015. The results were analyzed by comparing them to scores of the general population and based on the time elapsed since surgery. This approach allowed for a comprehensive evaluation of the quality-of-life outcomes in this patient population. @*Results@#The study found that thyroidectomy had a notable impact on patients’ role and cognitive functions. Patients also experienced worsened symptoms such as fatigue, dyspnea, and constipation, which improved over time and returned to normal levels. However, there were no significant changes in other functions and symptoms after surgery. @*Conclusion@#The study’s findings showed that thyroidectomy had a relatively minor impact on the functional and symptomatic well-being of patients. Therefore, the results suggest that thyroid surgery may be a safe and effective treatment option for thyroid cancer patients seeking to maintain a good quality of life.
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Purpose@#The purpose of this study is to identify the relationship among calling, nurse’s image, satisfaction in major, self-efficacy and nursing professionalism and to identify the predictors of nursing professionalism among nursing students. @*Methods@#The research design for this study was a descriptive survey using convenience sampling. Data collection was done using online questionnaires completed by 358 nursing students in G city. The data were analyzed using percentage, mean, standard deviation, t-test, ANOVA, Scheffé test, Pearson correlation analysis and hierarchical multiple regression with the SPSS Win 25.0 Program. @*Results@#The mean score of nursing professionalism was 3.56±0.55 out of a possible 5. Nursing professionalism showed a significantly positive correlation with calling (r=.51, p<.001), nurse’s image (r=.53, p<.001), satisfaction in major (r=.65, p<.001) and self-efficacy (r=.20, p<.001). In the hierarchical multiple regression analysis, satisfaction in major (β=.44, p<.001), nurse’s image (β=.26, p<.001), calling (β=.21, p<.001), self-efficacy (β=.14, p=.002) and servable occupation (β=.15, p=.020) were significant predictors and explained 51% of nursing professionalism. @*Conclusions@#The results of the study show factors that influence nursing professionalism in nursing students. Based on the results of the study, nursing professionalism education programs need to include factors that improve calling, nursing image, satisfaction in major and self-efficacy.
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Purpose@#Postoperative adhesions after thyroidectomy adversely affect patients’ quality of life. This study assessed the anti-adhesive effect and safety of thermosensitive sol-gel agents for patients undergoing thyroidectomy. @*Methods@#A double-blind parallel-group randomized clinical trial involving patients aged 20–70 years undergoing thyroidectomy for thyroid nodules was conducted. From August 2017 to April 2020, 90 patients were randomly assigned to the experimental (n = 45, thermosensitive sol-gel agent applied to the surgical site) and control (n = 45, no treatment) groups in a 1:1 ratio. All patients were assessed using a questionnaire for swallowing difficulty, wrinkle problems, and inflammation at 2 weeks, 3 months, and 6 months after thyroid surgery. For reoperated patients, the degree of adhesion was evaluated according to the adhesion-evaluation score system (range, 0–4). @*Results@#During the follow-up period of 6.50 ± 1.38 months, the swallowing difficulty, wrinkle problem, and inflammation were improved in both groups. However, there was no statistically significant difference between the control and experimental groups related to swallowing difficulty, wrinkle problems, and inflammation. Two patients in the control group and 1 in the experimental group who underwent reoperation had an adhesion-evaluation score of 3 points. There were no adverse effects or allergic reactions. @*Conclusion@#A thermosensitive sol-gel agent can be safely used as an anti-adhesive barrier. However, this study did not reveal its efficacy for postoperative adhesions. A more objective and systematic study is required in the future.
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Background@#Cross-talk between mitogen-activated protein kinase and estrogen has been reported; however, the role of BRAFV600E in the estrogen responsiveness of thyroid cancer is unknown. We elucidated the effect of BRAFV600E on the estrogen-induced increase in metastatic potential in thyroid cancer. @*Methods@#Using a pair of cell lines, human thyroid cell lines which harbor wild type BRAF gene (Nthy/WT) and Nthy/BRAFV600E (Nthy/V600E), the expression of estrogen receptors (ERs) and estrogen-induced metastatic phenotypes were evaluated. Susceptibility to ERα- and ERβ-selective agents was evaluated to confirm differential ER expression. ESR expression was analyzed according to BRAFV600E status and age (≤50 years vs. >50 years) using The Cancer Genome Atlas (TCGA) data. @*Results@#Estradiol increased the ERα/ERβ expression ratio in Nthy/V600E, whereas the decreased ERα/ERβ expression ratio was found in Nthy/WT. BRAFV600E-mutated cell lines showed a higher E2-induced increase in metastatic potential, including migration, invasion, and anchorage-independent growth compared with Nthy/WT. An ERα antagonist significantly inhibited migration in Nthy/V600E cells, whereas an ERβ agonist was more effective in Nthy/WT. In the BRAFV600E group, ESR1/ESR2 ratio was significantly higher in younger age group (≤50 years) compared with older age group (>50 years) by TCGA data analysis. @*Conclusion@#Our data show that BRAFV600E mutation plays a crucial role in the estrogen responsiveness of thyroid cancer by regulating ER expression. Therefore, BRAFV600E might be used as a biomarker when deciding future hormone therapies based on estrogen signaling in thyroid cancer patients.
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Background@#Optimal management of primary aldosteronism (PA) is crucial due to the increased risk of cardiovascular and cerebrovascular diseases. Adrenal venous sampling (AVS) is the gold standard method for determining subtype but is technically challenging and invasive. Some PA patients do not benefit clinically from surgery. We sought to develop an algorithm to improve decision- making before engaging in AVS and surgery in clinical practice. @*Methods@#We conducted the ongoing Korean Primary Aldosteronism Study at two tertiary centers. Study A involved PA patients with successful catheterization and a unilateral nodule on computed tomography and aimed to predict unilateral aldosterone-producing adenoma (n=367). Study B involved similar patients who underwent adrenalectomy and aimed to predict postoperative outcome (n=330). In study A, we implemented important feature selection using the least absolute shrinkage and selection operator regression. @*Results@#We developed a unilateral PA prediction model using logistic regression analysis: lowest serum potassium level ≤3.4 mEq/L, aldosterone-to-renin ratio ≥150, plasma aldosterone concentration ≥30 ng/mL, and body mass index <25 kg/m2 (area under the curve, 0.819; 95% confidence interval, 0.774 to 0.865; sensitivity, 97.6%; specificity, 25.5%). In study B, we identified female, hypertension duration <5 years, anti-hypertension medication <2.5 daily defined dose, and the absence of coronary artery disease as predictors of clinical success, using stepwise logistic regression models (sensitivity, 94.2%; specificity, 49.3%). We validated our algorithm in the independent validation dataset (n=53). @*Conclusion@#We propose this new outcome-driven diagnostic algorithm, simultaneously considering unilateral aldosterone excess and clinical surgical benefits in PA patients.
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Background@#This study aimed to assess the effects of iodine intake, thyroid function, and their combined effect on the risk of papillary thyroid cancer (PTC) and papillary thyroid microcarcinoma (PTMC). @*Methods@#A case-control study was conducted including 500 community-based controls who had undergone a health check-up, and 446 overall PTC cases (209 PTC and 237 PTMC) from the Thyroid Cancer Longitudinal Study. Urinary iodine concentration (UIC), was used as an indicator of iodine intake, and serum for thyroid function. The risk of PTC and PTMC was estimated using unconditional logistic regression. @*Results@#Excessive iodine intake (UIC ≥220 μg/gCr) was associated with both PTC (odds ratio [OR], 18.13 95% confidence interval [CI], 8.87 to 37.04) and PTMC (OR, 8.02; 95% CI, 4.64 to 13.87), compared to adequate iodine intake (UIC, 85 to 219 μg/gCr). Free thyroxine (T4) levels ≥1.25 ng/dL were associated with PTC (OR, 1.97; 95% CI, 1.36 to 2.87) and PTMC (OR, 2.98; 95% CI, 2.01 to 4.41), compared to free T4 levels of 0.7 to 1.24 ng/dL. Individuals with excessive iodine intake and high free T4 levels had a greatly increased OR of PTC (OR, 43.48; 95% CI, 12.63 to 149.62), and PTMC (OR, 26.96; 95% CI, 10.26 to 70.89), compared to individuals with adequate iodine intake and low free T4 levels. @*Conclusion@#Excessive iodine intake using creatinine-adjusted UIC and high free T4 levels may have a synergistic effect on PTC and PTMC. Considering both iodine intake and thyroid function is important to assess PTC and PTMC risk.
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Background@#This study aimed to assess the effects of iodine intake, thyroid function, and their combined effect on the risk of papillary thyroid cancer (PTC) and papillary thyroid microcarcinoma (PTMC). @*Methods@#A case-control study was conducted including 500 community-based controls who had undergone a health check-up, and 446 overall PTC cases (209 PTC and 237 PTMC) from the Thyroid Cancer Longitudinal Study. Urinary iodine concentration (UIC), was used as an indicator of iodine intake, and serum for thyroid function. The risk of PTC and PTMC was estimated using unconditional logistic regression. @*Results@#Excessive iodine intake (UIC ≥220 μg/gCr) was associated with both PTC (odds ratio [OR], 18.13 95% confidence interval [CI], 8.87 to 37.04) and PTMC (OR, 8.02; 95% CI, 4.64 to 13.87), compared to adequate iodine intake (UIC, 85 to 219 μg/gCr). Free thyroxine (T4) levels ≥1.25 ng/dL were associated with PTC (OR, 1.97; 95% CI, 1.36 to 2.87) and PTMC (OR, 2.98; 95% CI, 2.01 to 4.41), compared to free T4 levels of 0.7 to 1.24 ng/dL. Individuals with excessive iodine intake and high free T4 levels had a greatly increased OR of PTC (OR, 43.48; 95% CI, 12.63 to 149.62), and PTMC (OR, 26.96; 95% CI, 10.26 to 70.89), compared to individuals with adequate iodine intake and low free T4 levels. @*Conclusion@#Excessive iodine intake using creatinine-adjusted UIC and high free T4 levels may have a synergistic effect on PTC and PTMC. Considering both iodine intake and thyroid function is important to assess PTC and PTMC risk.
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Objectives@#This paper proposes a method for computer-assisted diagnosis of coronavirus disease 2019 (COVID-19) through chest X-ray imaging using a deep learning model without writing a single line of code using the Konstanz Information Miner (KNIME) analytics platform. @*Methods@#We obtained 155 samples of posteroanterior chest X-ray images from COVID-19 open dataset repositories to develop a classification model using a simple convolutional neural network (CNN). All of the images contained diagnostic information for COVID-19 and other diseases. The model would classify whether a patient was infected with COVID-19 or not. Eighty percent of the images were used for model training, and the rest were used for testing. The graphic user interface-based programming in the KNIME enabled class label annotation, data preprocessing, CNN model training and testing, performance evaluation, and so on. @*Results@#1,000 epochs training were performed to test the simple CNN model. The lower and upper bounds of positive predictive value (precision), sensitivity (recall), specificity, and f-measure are 92.3% and 94.4%. Both bounds of the model’s accuracies were equal to 93.5% and 96.6% of the area under the receiver operating characteristic curve for the test set. @*Conclusions@#In this study, a researcher who does not have basic knowledge of python programming successfully performed deep learning analysis of chest x-ray image dataset using the KNIME independently. The KNIME will reduce the time spent and lower the threshold for deep learning research applied to healthcare.
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Background@#An activating mutation (c.617A>C/p.Lys206Arg, L206R) in protein kinase cAMP-activated catalytic subunit alpha (PRKACA) has been reported in 35% to 65% of cases of cortisol-producing adenomas (CPAs). We aimed to compare the clinical characteristics and transcriptome analysis between PRKACA L206R mutants and wild-type CPAs in Korea. @*Methods@#We included 57 subjects with CPAs who underwent adrenalectomy at Seoul National University Hospital. Sanger sequencing for PRKACA was conducted in 57 CPA tumor tissues. RNA sequencing was performed in 13 fresh-frozen tumor tissues. @*Results@#The prevalence of the PRKACA L206R mutation was 51% (29/57). The mean age of the study subjects was 42±12 years, and 87.7% (50/57) of the patients were female. Subjects with PRKACA L206R mutant CPAs showed smaller adenoma size (3.3±0.7 cm vs. 3.8±1.2 cm, P=0.059) and lower dehydroepiandrosterone sulfate levels (218±180 ng/mL vs. 1,511±3,307 ng/mL, P=0.001) than those with PRKACA wild-type CPAs. Transcriptome profiling identified 244 differentially expressed genes (DEGs) between PRKACA L206R mutant (n=8) and wild-type CPAs (n=5), including five upregulated and 239 downregulated genes in PRKACA L206R mutant CPAs (|fold change| ≥2, P<0.05). Among the upstream regulators of DEGs, CTNNB1 was the most significant transcription regulator. In several pathway analyses, the Wnt signaling pathway was downregulated and the steroid biosynthesis pathway was upregulated in PRKACA mutants. Protein-protein interaction analysis also showed that PRKACA downregulates Wnt signaling and upregulates steroid biosynthesis. @*Conclusion@#The PRKACA L206R mutation in CPAs causes high hormonal activity with a limited proliferative capacity, as supported by transcriptome profiling.
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Since the introduction of minimally invasive surgery, laparoscopic adrenalectomy has become the main treatment option for adrenal masses. Various studies have reported that laparoscopic adrenalectomy showed fewer postoperative complications and faster recovery than conventional open adrenalectomy. Laparoscopic adrenalectomy can be performed through either the transperitoneal approach or the retroperitoneoscopic approach, which are widely used in most adrenal surgical procedures. Furthermore, with the development of minimally invasive surgery, organ-sparing adrenalectomy has recently emerged as a way to conserve functional adrenal gland tissue. According to recent data, organ-sparing adrenalectomy shows promising surgical, functional, and oncological outcomes including less intraoperative blood loss, maintenance of adrenal function, and low recurrence. Partial adrenalectomy was initially proposed for bilateral adrenal tumors in patients with hereditary disease to avoid chronic adrenal insufficiency. However, it has also gained popularity for the treatment of unilateral adrenal disease involving a small adrenal tumor because even patients with a unilateral adrenal gland may develop adrenal insufficiency in stressful situations. Therefore, partial adrenalectomy has become increasingly common to avoid lifelong steroid replacement and recurrence in most cases, especially in bilateral adrenal disease. This review article evaluates the current evidence on minimally invasive adrenalectomy and organ-preserving partial adrenalectomy.
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Purpose@#The purpose of this study was to test a model for intention to discontinuation drinking high caffeinated beverages among undergraduate students. This model was based on the Ajzen’s theory of planned behavior and Becker’s health belief model. @*Methods@#Participants consisted of 201 undergraduate students. Data were collected by questionnaires from March 11 to May 24, 2019. Collected data were analyzed using SPSS/WIN 22.0, AMOS 22.0 program. @*Results@#The assessment of the model indicated an acceptable fit (normed x2=1.65, goodness-of-fit index [GFI]=.83, adjusted GFI=.79, comparative fit index [CFI]=.92, standardized root mean square residual [SRMR]=.05, Tucker-Lewis index [TLI]=.91, normed fit index [NFI]=.87, root mean square error of approximation [RMSEA]=.07). Perceived behavior control, subjective norm, the subjective attitude was found to have a significant direct effect on the intention to discontinuation of drinking a high caffeinated beverage. The variances of this model explained 45.3% of the variance in intention to discontinuation of drinking a high caffeinated beverage. @*Conclusion@#These results suggest that a need to increase awareness of adverse effects and potential risks of high caffeinated beverage consumption in undergraduate students. Besides, the university and government should provide education and campaigns to prevent excessive high-caffeinated beverage consumption.
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Since the introduction of minimally invasive surgery, laparoscopic adrenalectomy has become the main treatment option for adrenal masses. Various studies have reported that laparoscopic adrenalectomy showed fewer postoperative complications and faster recovery than conventional open adrenalectomy. Laparoscopic adrenalectomy can be performed through either the transperitoneal approach or the retroperitoneoscopic approach, which are widely used in most adrenal surgical procedures. Furthermore, with the development of minimally invasive surgery, organ-sparing adrenalectomy has recently emerged as a way to conserve functional adrenal gland tissue. According to recent data, organ-sparing adrenalectomy shows promising surgical, functional, and oncological outcomes including less intraoperative blood loss, maintenance of adrenal function, and low recurrence. Partial adrenalectomy was initially proposed for bilateral adrenal tumors in patients with hereditary disease to avoid chronic adrenal insufficiency. However, it has also gained popularity for the treatment of unilateral adrenal disease involving a small adrenal tumor because even patients with a unilateral adrenal gland may develop adrenal insufficiency in stressful situations. Therefore, partial adrenalectomy has become increasingly common to avoid lifelong steroid replacement and recurrence in most cases, especially in bilateral adrenal disease. This review article evaluates the current evidence on minimally invasive adrenalectomy and organ-preserving partial adrenalectomy.
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Background@#The use of intraoperative neuromonitoring (IONM) in thyroid surgery to preserve recurrent laryngeal nerve (RLN) function has been widely accepted. We aimed to evaluate the usefulness of IONM in reoperation for recurrent thyroid cancer patients to help identify the RLN and prevent vocal cord palsy (VCP). @*Methods@#We analyzed 121 consecutive patients (with IONM group, 48 patients; without IONM group, 73 patients) who underwent reoperation for recurrent thyroid cancer after total thyroidectomy from January 2009 to March 2019 in our institution without VCP due to previous operations. Data including age, sex, number of previous operations, histologic subtype of the malignancy at the initial operation, operation time, RLNs at risk, difficulty of RLN identification, surgical procedure, VCP, and other postoperative complications were reviewed. Vocal cord movement evaluations were performed preoperatively and at 2 weeks postoperatively to evaluate RLN function. In patients with VCP, additional evaluations were performed. VCP exceeding 12 months after surgery was considered permanent VCP. @*Results@#VCP was observed in six (12.5%) and 16 (21.9%) patients with and without IONM (P=0.189). Transient and permanent VCP were found in three (6.3%) and three (6.3%) patients with IONM (P=0.098 and P=0.982, respectively) versus in 12 (16.4%) and four (5.5%) patients without IONM. @*Conclusion@#The incidence of transient VCP seems to be lower in reoperations with IONM; however, there was no statistical significances. Further study will be needed to ascertain the efficacy of IONM in reoperation for recurrent thyroid cancer patients.
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Purpose@#The aim of this study was to compare the large multi-institutional data of surgical outcomes of bilateral axillo-breast approach (BABA) robotic (RT) and endoscopic thyroidectomy (ET) and to evaluate the merits of robotic thyroidectomy. @*Methods@#From 2004 to 2015, 1,029 patients underwent BABA ET, and from 2008 to 2015, 2003 patients underwent BABA RT in 3 large volume centers in Korea. Two groups were retrospectively compared in terms of clinicopathologic characteristics, complications, surgical completeness, and long-term outcomes using propensity score matching analysis. @*Results@#Both groups had similar demographic characteristics including age, sex, tumor size, pathologic stage, and hospital stay after matching. Each group had similar rate of transient hypoparathyroidism, however, ET showed significantly higher rate of permanent hypoparathyroidism (ET 5.2% vs. RT 2.3%, P = 0.05), and transient vocal cord palsy (ET 14.4% vs. RT 9.1%, P = 0.006). Total operation time was longer in the ET group irrespective of surgical extents, including lobectomy (P = 0.016), total thyroidectomy (P = 0.031), and total thyroidectomy with central lymph node dissection (P = 0.019). The rate of patients with off-Tg under 1.0 ng/mL after 1st ablation was significantly higher in RT than ET group (ET 64.6% vs. RT 92.7%, P < 0.001). In long-term follow-up of cancer patients, 1.4% experienced recurrence after ET (10 cases), while 0.3% cases experienced recurrence after RT (5 cases) (P < 0.001). @*Conclusion@#Both ET and RT can be safe and effective methods to treat thyroid diseases. However, the application of robotic system may help to overcome the limitations of the instruments and surgeon’s skills.
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Background@#The use of intraoperative neuromonitoring (IONM) in thyroid surgery to preserve recurrent laryngeal nerve (RLN) function has been widely accepted. We aimed to evaluate the usefulness of IONM in reoperation for recurrent thyroid cancer patients to help identify the RLN and prevent vocal cord palsy (VCP). @*Methods@#We analyzed 121 consecutive patients (with IONM group, 48 patients; without IONM group, 73 patients) who underwent reoperation for recurrent thyroid cancer after total thyroidectomy from January 2009 to March 2019 in our institution without VCP due to previous operations. Data including age, sex, number of previous operations, histologic subtype of the malignancy at the initial operation, operation time, RLNs at risk, difficulty of RLN identification, surgical procedure, VCP, and other postoperative complications were reviewed. Vocal cord movement evaluations were performed preoperatively and at 2 weeks postoperatively to evaluate RLN function. In patients with VCP, additional evaluations were performed. VCP exceeding 12 months after surgery was considered permanent VCP. @*Results@#VCP was observed in six (12.5%) and 16 (21.9%) patients with and without IONM (P=0.189). Transient and permanent VCP were found in three (6.3%) and three (6.3%) patients with IONM (P=0.098 and P=0.982, respectively) versus in 12 (16.4%) and four (5.5%) patients without IONM. @*Conclusion@#The incidence of transient VCP seems to be lower in reoperations with IONM; however, there was no statistical significances. Further study will be needed to ascertain the efficacy of IONM in reoperation for recurrent thyroid cancer patients.
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Background@#Pheochromocytoma and paragangliomas (PPGL) are known as tumors with the highest level of heritability, approximately 30% of all cases. Clinical practice guidelines of PPGL recommend genetic testing for germline variants in all patients. In this study, we used whole exome sequencing to identify novel causative variants associated with PPGL to improve the detection of rare genetic variants in our cohort. @*Methods@#Thirty-six tested negative for pathogenic variants in previous Sanger sequencing or targeted gene panel testing for PPGL underwent whole exome sequencing. Whole exome sequencing was performed using DNA samples enriched using TruSeq Custom Enrichment Kit and sequenced with MiSeq (Illumina Inc.). Sequencing alignment and variant calling were performed using SAMtools. @*Results@#Among previously mutation undetected 36 patients, two likely pathogenic variants and 13 variants of uncertain significance (VUS) were detected in 32 pheochromocytoma-related genes. SDHA c.778G>A (p.Gly260Arg) was detected in a patient with head and neck paraganglioma, and KIF1B c.2787-2A>C in a patient with a bladder paraganglioma. Additionally, a likely pathogenic variant in BRCA2, VUS in TP53, and VUS in NFU1 were detected. @*Conclusion@#Exome sequencing further identified genetic alterations by 5.6% in previously mutation undetected patients in PPGL. Implementation of targeted gene sequencing consisted of extended genes of PPGL in routine clinical screening can support the level of comprehensive patient assessment.
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Background@#Pheochromocytoma and paragangliomas (PPGL) are known as tumors with the highest level of heritability, approximately 30% of all cases. Clinical practice guidelines of PPGL recommend genetic testing for germline variants in all patients. In this study, we used whole exome sequencing to identify novel causative variants associated with PPGL to improve the detection of rare genetic variants in our cohort. @*Methods@#Thirty-six tested negative for pathogenic variants in previous Sanger sequencing or targeted gene panel testing for PPGL underwent whole exome sequencing. Whole exome sequencing was performed using DNA samples enriched using TruSeq Custom Enrichment Kit and sequenced with MiSeq (Illumina Inc.). Sequencing alignment and variant calling were performed using SAMtools. @*Results@#Among previously mutation undetected 36 patients, two likely pathogenic variants and 13 variants of uncertain significance (VUS) were detected in 32 pheochromocytoma-related genes. SDHA c.778G>A (p.Gly260Arg) was detected in a patient with head and neck paraganglioma, and KIF1B c.2787-2A>C in a patient with a bladder paraganglioma. Additionally, a likely pathogenic variant in BRCA2, VUS in TP53, and VUS in NFU1 were detected. @*Conclusion@#Exome sequencing further identified genetic alterations by 5.6% in previously mutation undetected patients in PPGL. Implementation of targeted gene sequencing consisted of extended genes of PPGL in routine clinical screening can support the level of comprehensive patient assessment.
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Purpose@#The aim of this study was to compare the large multi-institutional data of surgical outcomes of bilateral axillo-breast approach (BABA) robotic (RT) and endoscopic thyroidectomy (ET) and to evaluate the merits of robotic thyroidectomy. @*Methods@#From 2004 to 2015, 1,029 patients underwent BABA ET, and from 2008 to 2015, 2003 patients underwent BABA RT in 3 large volume centers in Korea. Two groups were retrospectively compared in terms of clinicopathologic characteristics, complications, surgical completeness, and long-term outcomes using propensity score matching analysis. @*Results@#Both groups had similar demographic characteristics including age, sex, tumor size, pathologic stage, and hospital stay after matching. Each group had similar rate of transient hypoparathyroidism, however, ET showed significantly higher rate of permanent hypoparathyroidism (ET 5.2% vs. RT 2.3%, P = 0.05), and transient vocal cord palsy (ET 14.4% vs. RT 9.1%, P = 0.006). Total operation time was longer in the ET group irrespective of surgical extents, including lobectomy (P = 0.016), total thyroidectomy (P = 0.031), and total thyroidectomy with central lymph node dissection (P = 0.019). The rate of patients with off-Tg under 1.0 ng/mL after 1st ablation was significantly higher in RT than ET group (ET 64.6% vs. RT 92.7%, P < 0.001). In long-term follow-up of cancer patients, 1.4% experienced recurrence after ET (10 cases), while 0.3% cases experienced recurrence after RT (5 cases) (P < 0.001). @*Conclusion@#Both ET and RT can be safe and effective methods to treat thyroid diseases. However, the application of robotic system may help to overcome the limitations of the instruments and surgeon’s skills.