1.Diagnosis of Oral-Facial-Digital Syndrome I in a Patient with Suspected Polycystic Kidney Disease
Jiwon LEE ; Jong Eun PARK ; Sang-Woong HAN ; Mi-Yeon YU
Korean Journal of Medicine 2025;100(1):40-43
Polycystic kidney disease (PKD) typically manifests as genetic disease, which is commonly attributed to mutations in PKD genes. In this particular case, however, genetic analysis revealed that the patient’s PKD is linked to a novel, likely pathogenic variant (c.2184del; p.Thr729Leufs*88) in the oral-facial-digital syndrome type I (OFD1) gene. This is the first confirmed genetic diagnosis of mutations in the OFD1 gene in Korea. This investigation emphasizes the critical utility of panel sequencing of PKD in offering precise diagnosis and understanding the genetic profiles of PKD.
2.Diagnosis of Oral-Facial-Digital Syndrome I in a Patient with Suspected Polycystic Kidney Disease
Jiwon LEE ; Jong Eun PARK ; Sang-Woong HAN ; Mi-Yeon YU
Korean Journal of Medicine 2025;100(1):40-43
Polycystic kidney disease (PKD) typically manifests as genetic disease, which is commonly attributed to mutations in PKD genes. In this particular case, however, genetic analysis revealed that the patient’s PKD is linked to a novel, likely pathogenic variant (c.2184del; p.Thr729Leufs*88) in the oral-facial-digital syndrome type I (OFD1) gene. This is the first confirmed genetic diagnosis of mutations in the OFD1 gene in Korea. This investigation emphasizes the critical utility of panel sequencing of PKD in offering precise diagnosis and understanding the genetic profiles of PKD.
3.Diagnosis of Oral-Facial-Digital Syndrome I in a Patient with Suspected Polycystic Kidney Disease
Jiwon LEE ; Jong Eun PARK ; Sang-Woong HAN ; Mi-Yeon YU
Korean Journal of Medicine 2025;100(1):40-43
Polycystic kidney disease (PKD) typically manifests as genetic disease, which is commonly attributed to mutations in PKD genes. In this particular case, however, genetic analysis revealed that the patient’s PKD is linked to a novel, likely pathogenic variant (c.2184del; p.Thr729Leufs*88) in the oral-facial-digital syndrome type I (OFD1) gene. This is the first confirmed genetic diagnosis of mutations in the OFD1 gene in Korea. This investigation emphasizes the critical utility of panel sequencing of PKD in offering precise diagnosis and understanding the genetic profiles of PKD.
4.Impact of portal/superior mesenteric vein abutment angle on prognosis in pancreatic cancer: a single-center retrospective cohort study
Hye Jeong JEONG ; DanHui HEO ; Soo Yeun LIM ; Hyeong Seok KIM ; Hochang CHAE ; So Jeong YOON ; Sang Hyun SHIN ; In Woong HAN ; Jin Seok HEO ; Ji Hye MIN ; Hongbeom KIM
Annals of Surgical Treatment and Research 2025;108(4):231-239
Purpose:
Pancreatic cancer has a poor prognosis; however, the implementation of neoadjuvant treatment enables borderline resectable cases to undergo curative resection and improves the overall survival rate. Attempts have been made to expand the eligibility criteria for neoadjuvant treatment, even in resectable cases. Some studies have suggested a correlation between vein abutment and poor prognosis or that the abutment angle may affect prognosis. This study investigated the anatomical factors affecting the vessel abutment angle and its prognostic value in pancreatic cancer.
Methods:
Patients with pancreatic ductal adenocarcinoma who underwent surgery between 2012 and 2017 were included in this study. Patients who underwent neoadjuvant treatment were excluded. Data from only the intent-to-treat pancreaticoduodenectomy group were included in the analysis. Clinicopathological characteristics; preoperative factors such as CA 19-9, preoperative biliary drainage, American Society of Anesthesiologists physical status classification, portal vein/superior mesenteric vein contact angle measured via CT scan; and intraoperative factors were collected for analysis.
Results:
A total of 365 patients were included in this study, and the abutment group included 92 patients (25.2%). The abutment and no-contact groups did not show any significant differences in terms of the overall survival or diseasefree survival rate. Among the abutment groups, patients with less than 90° and 90°–180° did not show any significant differences. In the multivariate analysis, the only preoperative factor that had a prognostic effect was CA 19-9, a biological factor.
Conclusion
When there is no vessel invasion in the abutment group, upfront surgery should be considered because the angle does not affect the overall prognosis.
5.Impact of portal/superior mesenteric vein abutment angle on prognosis in pancreatic cancer: a single-center retrospective cohort study
Hye Jeong JEONG ; DanHui HEO ; Soo Yeun LIM ; Hyeong Seok KIM ; Hochang CHAE ; So Jeong YOON ; Sang Hyun SHIN ; In Woong HAN ; Jin Seok HEO ; Ji Hye MIN ; Hongbeom KIM
Annals of Surgical Treatment and Research 2025;108(4):231-239
Purpose:
Pancreatic cancer has a poor prognosis; however, the implementation of neoadjuvant treatment enables borderline resectable cases to undergo curative resection and improves the overall survival rate. Attempts have been made to expand the eligibility criteria for neoadjuvant treatment, even in resectable cases. Some studies have suggested a correlation between vein abutment and poor prognosis or that the abutment angle may affect prognosis. This study investigated the anatomical factors affecting the vessel abutment angle and its prognostic value in pancreatic cancer.
Methods:
Patients with pancreatic ductal adenocarcinoma who underwent surgery between 2012 and 2017 were included in this study. Patients who underwent neoadjuvant treatment were excluded. Data from only the intent-to-treat pancreaticoduodenectomy group were included in the analysis. Clinicopathological characteristics; preoperative factors such as CA 19-9, preoperative biliary drainage, American Society of Anesthesiologists physical status classification, portal vein/superior mesenteric vein contact angle measured via CT scan; and intraoperative factors were collected for analysis.
Results:
A total of 365 patients were included in this study, and the abutment group included 92 patients (25.2%). The abutment and no-contact groups did not show any significant differences in terms of the overall survival or diseasefree survival rate. Among the abutment groups, patients with less than 90° and 90°–180° did not show any significant differences. In the multivariate analysis, the only preoperative factor that had a prognostic effect was CA 19-9, a biological factor.
Conclusion
When there is no vessel invasion in the abutment group, upfront surgery should be considered because the angle does not affect the overall prognosis.
6.Impact of portal/superior mesenteric vein abutment angle on prognosis in pancreatic cancer: a single-center retrospective cohort study
Hye Jeong JEONG ; DanHui HEO ; Soo Yeun LIM ; Hyeong Seok KIM ; Hochang CHAE ; So Jeong YOON ; Sang Hyun SHIN ; In Woong HAN ; Jin Seok HEO ; Ji Hye MIN ; Hongbeom KIM
Annals of Surgical Treatment and Research 2025;108(4):231-239
Purpose:
Pancreatic cancer has a poor prognosis; however, the implementation of neoadjuvant treatment enables borderline resectable cases to undergo curative resection and improves the overall survival rate. Attempts have been made to expand the eligibility criteria for neoadjuvant treatment, even in resectable cases. Some studies have suggested a correlation between vein abutment and poor prognosis or that the abutment angle may affect prognosis. This study investigated the anatomical factors affecting the vessel abutment angle and its prognostic value in pancreatic cancer.
Methods:
Patients with pancreatic ductal adenocarcinoma who underwent surgery between 2012 and 2017 were included in this study. Patients who underwent neoadjuvant treatment were excluded. Data from only the intent-to-treat pancreaticoduodenectomy group were included in the analysis. Clinicopathological characteristics; preoperative factors such as CA 19-9, preoperative biliary drainage, American Society of Anesthesiologists physical status classification, portal vein/superior mesenteric vein contact angle measured via CT scan; and intraoperative factors were collected for analysis.
Results:
A total of 365 patients were included in this study, and the abutment group included 92 patients (25.2%). The abutment and no-contact groups did not show any significant differences in terms of the overall survival or diseasefree survival rate. Among the abutment groups, patients with less than 90° and 90°–180° did not show any significant differences. In the multivariate analysis, the only preoperative factor that had a prognostic effect was CA 19-9, a biological factor.
Conclusion
When there is no vessel invasion in the abutment group, upfront surgery should be considered because the angle does not affect the overall prognosis.
7.Diagnosis of Oral-Facial-Digital Syndrome I in a Patient with Suspected Polycystic Kidney Disease
Jiwon LEE ; Jong Eun PARK ; Sang-Woong HAN ; Mi-Yeon YU
Korean Journal of Medicine 2025;100(1):40-43
Polycystic kidney disease (PKD) typically manifests as genetic disease, which is commonly attributed to mutations in PKD genes. In this particular case, however, genetic analysis revealed that the patient’s PKD is linked to a novel, likely pathogenic variant (c.2184del; p.Thr729Leufs*88) in the oral-facial-digital syndrome type I (OFD1) gene. This is the first confirmed genetic diagnosis of mutations in the OFD1 gene in Korea. This investigation emphasizes the critical utility of panel sequencing of PKD in offering precise diagnosis and understanding the genetic profiles of PKD.
8.Safety Profile of Biportal Endoscopic Spine Surgery Compared to Conventional Microscopic Approach: A Pooled Analysis of 2 Randomized Controlled Trials
Sang-Min PARK ; Kwang-Sup SONG ; Dae-Woong HAM ; Ho-Joong KIM ; Min-Seok KANG ; Ki-Han YOU ; Choon Keun PARK ; Dong-Keun LEE ; Jin-Sung KIM ; Hong-Jae LEE ; Hyun-Jin PARK
Neurospine 2024;21(4):1190-1198
Objective:
To compare the safety profiles of biportal endoscopic spinal surgery (BESS) and microscopic spinal surgery (MSS) for lumbar disc herniation and spinal stenosis by analyzing the associated adverse events.
Methods:
We pooled data from 2 prospective randomized controlled trials involving 220 patients (110 in each group) who underwent single-level lumbar surgery. Participants aged 20–80 years with radiating pain due to lumbar disc herniation or spinal stenosis were included in this study. Adverse events were recorded and analyzed over a 12-month follow-up period.
Results:
The overall adverse event rates were 9.1% (10 of 110) in the BESS group and 17.3% (19 of 110) in the MSS group, which were not statistically significantly different (p=0.133). Notably, wound dehiscence occurred in 8.2% of MSS cases but in none of the BESS cases. Both groups showed similarly low rates of complications, such as dural tears, epidural hematoma, and nerve root injury. The most common adverse event in the BESS group was recurrent disc herniation (2.7%), whereas that in the MSS group was wound dehiscence (8.2%).
Conclusion
BESS demonstrated a safety profile comparable to that of MSS for the treatment of lumbar disc herniation and spinal stenosis, with a trend towards fewer overall complications. BESS offers particular advantages in terms of reducing wound-related complications. These findings suggest that BESS is a safe alternative to conventional MSS and potentially offers the benefits of a minimally invasive approach without compromising patient safety.
9.Safety Profile of Biportal Endoscopic Spine Surgery Compared to Conventional Microscopic Approach: A Pooled Analysis of 2 Randomized Controlled Trials
Sang-Min PARK ; Kwang-Sup SONG ; Dae-Woong HAM ; Ho-Joong KIM ; Min-Seok KANG ; Ki-Han YOU ; Choon Keun PARK ; Dong-Keun LEE ; Jin-Sung KIM ; Hong-Jae LEE ; Hyun-Jin PARK
Neurospine 2024;21(4):1190-1198
Objective:
To compare the safety profiles of biportal endoscopic spinal surgery (BESS) and microscopic spinal surgery (MSS) for lumbar disc herniation and spinal stenosis by analyzing the associated adverse events.
Methods:
We pooled data from 2 prospective randomized controlled trials involving 220 patients (110 in each group) who underwent single-level lumbar surgery. Participants aged 20–80 years with radiating pain due to lumbar disc herniation or spinal stenosis were included in this study. Adverse events were recorded and analyzed over a 12-month follow-up period.
Results:
The overall adverse event rates were 9.1% (10 of 110) in the BESS group and 17.3% (19 of 110) in the MSS group, which were not statistically significantly different (p=0.133). Notably, wound dehiscence occurred in 8.2% of MSS cases but in none of the BESS cases. Both groups showed similarly low rates of complications, such as dural tears, epidural hematoma, and nerve root injury. The most common adverse event in the BESS group was recurrent disc herniation (2.7%), whereas that in the MSS group was wound dehiscence (8.2%).
Conclusion
BESS demonstrated a safety profile comparable to that of MSS for the treatment of lumbar disc herniation and spinal stenosis, with a trend towards fewer overall complications. BESS offers particular advantages in terms of reducing wound-related complications. These findings suggest that BESS is a safe alternative to conventional MSS and potentially offers the benefits of a minimally invasive approach without compromising patient safety.
10.Safety Profile of Biportal Endoscopic Spine Surgery Compared to Conventional Microscopic Approach: A Pooled Analysis of 2 Randomized Controlled Trials
Sang-Min PARK ; Kwang-Sup SONG ; Dae-Woong HAM ; Ho-Joong KIM ; Min-Seok KANG ; Ki-Han YOU ; Choon Keun PARK ; Dong-Keun LEE ; Jin-Sung KIM ; Hong-Jae LEE ; Hyun-Jin PARK
Neurospine 2024;21(4):1190-1198
Objective:
To compare the safety profiles of biportal endoscopic spinal surgery (BESS) and microscopic spinal surgery (MSS) for lumbar disc herniation and spinal stenosis by analyzing the associated adverse events.
Methods:
We pooled data from 2 prospective randomized controlled trials involving 220 patients (110 in each group) who underwent single-level lumbar surgery. Participants aged 20–80 years with radiating pain due to lumbar disc herniation or spinal stenosis were included in this study. Adverse events were recorded and analyzed over a 12-month follow-up period.
Results:
The overall adverse event rates were 9.1% (10 of 110) in the BESS group and 17.3% (19 of 110) in the MSS group, which were not statistically significantly different (p=0.133). Notably, wound dehiscence occurred in 8.2% of MSS cases but in none of the BESS cases. Both groups showed similarly low rates of complications, such as dural tears, epidural hematoma, and nerve root injury. The most common adverse event in the BESS group was recurrent disc herniation (2.7%), whereas that in the MSS group was wound dehiscence (8.2%).
Conclusion
BESS demonstrated a safety profile comparable to that of MSS for the treatment of lumbar disc herniation and spinal stenosis, with a trend towards fewer overall complications. BESS offers particular advantages in terms of reducing wound-related complications. These findings suggest that BESS is a safe alternative to conventional MSS and potentially offers the benefits of a minimally invasive approach without compromising patient safety.

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