Background: Active surveillance (AS) has emerged as a viable management strategy for low-risk papillary thyroid microcarcinoma (PTMC), following pioneering trials at Kuma Hospital and the Cancer Institute Hospital in Japan. Numerous prospective cohort studies have since validated AS as a management option for low-risk PTMC, leading to its inclusion in thyroid cancer guidelines across various countries. From 2016 to 2020, the Multicenter Prospective Cohort Study of Active Surveillance on Papillary Thyroid Microcarcinoma (MAeSTro) enrolled 1,177 patients, providing comprehensive data on PTMC progression, sonographic predictors of progression, quality of life, surgical outcomes, and cost-effectiveness when comparing AS to immediate surgery. The second phase of MAeSTro (MAeSTro-EXP) expands AS to low-risk papillary thyroid carcinoma (PTC) tumors larger than 1 cm, driven by the hypothesis that overall risk assessment outweighs absolute tumor size in surgical decision-making. Methods: This protocol aims to address whether limiting AS to tumors smaller than 1 cm may result in unnecessary surgeries for low-risk PTCs detected during their rapid initial growth phase. By expanding the AS criteria to include tumors up to 1.5 cm, while simultaneously refining and standardizing the criteria for risk assessment and disease progression, we aim to minimize overtreatment and maintain rigorous monitoring to improve patient outcomes. Conclusion This study will contribute to optimizing AS guidelines and enhance our understanding of the natural course and appropriate management of low-risk PTCs. Additionally, MAeSTro-EXP involves a multinational collaboration between South Korea and Australia. This cross-country study aims to identify cultural and racial differences in the management of low-risk PTC, thereby enriching the global understanding of AS practices and their applicability across diverse populations.

Background: Active surveillance (AS) has emerged as a viable management strategy for low-risk papillary thyroid microcarcinoma (PTMC), following pioneering trials at Kuma Hospital and the Cancer Institute Hospital in Japan. Numerous prospective cohort studies have since validated AS as a management option for low-risk PTMC, leading to its inclusion in thyroid cancer guidelines across various countries. From 2016 to 2020, the Multicenter Prospective Cohort Study of Active Surveillance on Papillary Thyroid Microcarcinoma (MAeSTro) enrolled 1,177 patients, providing comprehensive data on PTMC progression, sonographic predictors of progression, quality of life, surgical outcomes, and cost-effectiveness when comparing AS to immediate surgery. The second phase of MAeSTro (MAeSTro-EXP) expands AS to low-risk papillary thyroid carcinoma (PTC) tumors larger than 1 cm, driven by the hypothesis that overall risk assessment outweighs absolute tumor size in surgical decision-making. Methods: This protocol aims to address whether limiting AS to tumors smaller than 1 cm may result in unnecessary surgeries for low-risk PTCs detected during their rapid initial growth phase. By expanding the AS criteria to include tumors up to 1.5 cm, while simultaneously refining and standardizing the criteria for risk assessment and disease progression, we aim to minimize overtreatment and maintain rigorous monitoring to improve patient outcomes. Conclusion This study will contribute to optimizing AS guidelines and enhance our understanding of the natural course and appropriate management of low-risk PTCs. Additionally, MAeSTro-EXP involves a multinational collaboration between South Korea and Australia. This cross-country study aims to identify cultural and racial differences in the management of low-risk PTC, thereby enriching the global understanding of AS practices and their applicability across diverse populations.

Background: Active surveillance (AS) has emerged as a viable management strategy for low-risk papillary thyroid microcarcinoma (PTMC), following pioneering trials at Kuma Hospital and the Cancer Institute Hospital in Japan. Numerous prospective cohort studies have since validated AS as a management option for low-risk PTMC, leading to its inclusion in thyroid cancer guidelines across various countries. From 2016 to 2020, the Multicenter Prospective Cohort Study of Active Surveillance on Papillary Thyroid Microcarcinoma (MAeSTro) enrolled 1,177 patients, providing comprehensive data on PTMC progression, sonographic predictors of progression, quality of life, surgical outcomes, and cost-effectiveness when comparing AS to immediate surgery. The second phase of MAeSTro (MAeSTro-EXP) expands AS to low-risk papillary thyroid carcinoma (PTC) tumors larger than 1 cm, driven by the hypothesis that overall risk assessment outweighs absolute tumor size in surgical decision-making. Methods: This protocol aims to address whether limiting AS to tumors smaller than 1 cm may result in unnecessary surgeries for low-risk PTCs detected during their rapid initial growth phase. By expanding the AS criteria to include tumors up to 1.5 cm, while simultaneously refining and standardizing the criteria for risk assessment and disease progression, we aim to minimize overtreatment and maintain rigorous monitoring to improve patient outcomes. Conclusion This study will contribute to optimizing AS guidelines and enhance our understanding of the natural course and appropriate management of low-risk PTCs. Additionally, MAeSTro-EXP involves a multinational collaboration between South Korea and Australia. This cross-country study aims to identify cultural and racial differences in the management of low-risk PTC, thereby enriching the global understanding of AS practices and their applicability across diverse populations.

Background: Active surveillance (AS) has emerged as a viable management strategy for low-risk papillary thyroid microcarcinoma (PTMC), following pioneering trials at Kuma Hospital and the Cancer Institute Hospital in Japan. Numerous prospective cohort studies have since validated AS as a management option for low-risk PTMC, leading to its inclusion in thyroid cancer guidelines across various countries. From 2016 to 2020, the Multicenter Prospective Cohort Study of Active Surveillance on Papillary Thyroid Microcarcinoma (MAeSTro) enrolled 1,177 patients, providing comprehensive data on PTMC progression, sonographic predictors of progression, quality of life, surgical outcomes, and cost-effectiveness when comparing AS to immediate surgery. The second phase of MAeSTro (MAeSTro-EXP) expands AS to low-risk papillary thyroid carcinoma (PTC) tumors larger than 1 cm, driven by the hypothesis that overall risk assessment outweighs absolute tumor size in surgical decision-making. Methods: This protocol aims to address whether limiting AS to tumors smaller than 1 cm may result in unnecessary surgeries for low-risk PTCs detected during their rapid initial growth phase. By expanding the AS criteria to include tumors up to 1.5 cm, while simultaneously refining and standardizing the criteria for risk assessment and disease progression, we aim to minimize overtreatment and maintain rigorous monitoring to improve patient outcomes. Conclusion This study will contribute to optimizing AS guidelines and enhance our understanding of the natural course and appropriate management of low-risk PTCs. Additionally, MAeSTro-EXP involves a multinational collaboration between South Korea and Australia. This cross-country study aims to identify cultural and racial differences in the management of low-risk PTC, thereby enriching the global understanding of AS practices and their applicability across diverse populations.

Objective: To evaluate the utility of the UAC as a biomarker for early CKD diagnosis in dogs and examine its correlation with other renal biomarkers in a large-scale clinical study. Methods: This study included 99 healthy dogs and 122 dogs with CKD. The UAC and other renal biomarkers were measured and evaluated in healthy dogs and those with CKD and categorized according to the staging criteria of the International Renal Interest Society (IRIS). Results: Dogs with CKD had significantly higher UACs than healthy dogs (p < 0.05). The UAC correlated with the IRIS stages and other renal biomarkers (p < 0.05). Receiver operating characteristic curve analysis yielded an area under the curve of 0.817 (p < 0.05) for the UAC, with a cut-off value of 19.20 mg/g, showing 72% sensitivity and 71% specificity. A “grey zone” diagnostic window for early-stage CKD was introduced. Conclusions and Relevance: The UAC is effective for the early diagnosis of renal disease in dogs. The UAC can differentiate between healthy dogs and those with CKD at IRIS stage 1.The diagnostic value is enhanced when used alongside other renal biomarkers, allowing for more specific guidelines for pet owners and veterinarians. This large-scale study addresses the limitations of previous research conducted on small clinical samples.

Objective: To evaluate the utility of the UAC as a biomarker for early CKD diagnosis in dogs and examine its correlation with other renal biomarkers in a large-scale clinical study. Methods: This study included 99 healthy dogs and 122 dogs with CKD. The UAC and other renal biomarkers were measured and evaluated in healthy dogs and those with CKD and categorized according to the staging criteria of the International Renal Interest Society (IRIS). Results: Dogs with CKD had significantly higher UACs than healthy dogs (p < 0.05). The UAC correlated with the IRIS stages and other renal biomarkers (p < 0.05). Receiver operating characteristic curve analysis yielded an area under the curve of 0.817 (p < 0.05) for the UAC, with a cut-off value of 19.20 mg/g, showing 72% sensitivity and 71% specificity. A “grey zone” diagnostic window for early-stage CKD was introduced. Conclusions and Relevance: The UAC is effective for the early diagnosis of renal disease in dogs. The UAC can differentiate between healthy dogs and those with CKD at IRIS stage 1.The diagnostic value is enhanced when used alongside other renal biomarkers, allowing for more specific guidelines for pet owners and veterinarians. This large-scale study addresses the limitations of previous research conducted on small clinical samples.

Objective: To evaluate the utility of the UAC as a biomarker for early CKD diagnosis in dogs and examine its correlation with other renal biomarkers in a large-scale clinical study. Methods: This study included 99 healthy dogs and 122 dogs with CKD. The UAC and other renal biomarkers were measured and evaluated in healthy dogs and those with CKD and categorized according to the staging criteria of the International Renal Interest Society (IRIS). Results: Dogs with CKD had significantly higher UACs than healthy dogs (p < 0.05). The UAC correlated with the IRIS stages and other renal biomarkers (p < 0.05). Receiver operating characteristic curve analysis yielded an area under the curve of 0.817 (p < 0.05) for the UAC, with a cut-off value of 19.20 mg/g, showing 72% sensitivity and 71% specificity. A “grey zone” diagnostic window for early-stage CKD was introduced. Conclusions and Relevance: The UAC is effective for the early diagnosis of renal disease in dogs. The UAC can differentiate between healthy dogs and those with CKD at IRIS stage 1.The diagnostic value is enhanced when used alongside other renal biomarkers, allowing for more specific guidelines for pet owners and veterinarians. This large-scale study addresses the limitations of previous research conducted on small clinical samples.

Objective: To evaluate the utility of the UAC as a biomarker for early CKD diagnosis in dogs and examine its correlation with other renal biomarkers in a large-scale clinical study. Methods: This study included 99 healthy dogs and 122 dogs with CKD. The UAC and other renal biomarkers were measured and evaluated in healthy dogs and those with CKD and categorized according to the staging criteria of the International Renal Interest Society (IRIS). Results: Dogs with CKD had significantly higher UACs than healthy dogs (p < 0.05). The UAC correlated with the IRIS stages and other renal biomarkers (p < 0.05). Receiver operating characteristic curve analysis yielded an area under the curve of 0.817 (p < 0.05) for the UAC, with a cut-off value of 19.20 mg/g, showing 72% sensitivity and 71% specificity. A “grey zone” diagnostic window for early-stage CKD was introduced. Conclusions and Relevance: The UAC is effective for the early diagnosis of renal disease in dogs. The UAC can differentiate between healthy dogs and those with CKD at IRIS stage 1.The diagnostic value is enhanced when used alongside other renal biomarkers, allowing for more specific guidelines for pet owners and veterinarians. This large-scale study addresses the limitations of previous research conducted on small clinical samples.

Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient’s karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

Purpose: Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to prevent couples with monogenic disorders from passing them on to their child. Charcot–Marie–Tooth Disease (CMT) is a genetic disorder characterized by progressive extremity muscle degeneration and loss of sensory function. For the first time in Korea, we report our experience of applying single nucleotide polymorphism genotyping and karyomapping for PGT-M of CMT disease. Materials and Methods: Prior to clinical PGT-M, preclinical tests were performed using genotypes of affected families to identify informative single-nucleotide polymorphisms associated with mutant alleles. We performed five cycles of in vitro fertilization PGT-M in four couples with CMT1A, CMT2A, and CMT2S in CHA Fertility Center, Seoul Station. Results: From July 2020 through August 2021, five cycles of PGT-M with karyomapping in four cases with CMT1 and CMT2 were analyzed retrospectively. A total of 17 blastocysts were biopsied and 15 embryos were successfully diagnosed (88.2%).Ten out of 15 embryos were diagnosed as unaffected (66.7%). Five cycles of PGT-M resulted in four transfer cycles, in which four embryos were transferred. Three clinical pregnancies were achieved (75%) and the prenatal diagnosis by amniocentesis for all three women confirmed PGT-M of karyomapping. One woman delivered a healthy baby uneventfully and two pregnancies are currently ongoing. Conclusion This is the first report in Korea on the application of karyomapping in PGT-M for CMT patients. This study shows that karyomapping is an efficient, reliable and accurate diagnostic method for PGT-M in various types of CMT diseases.