Long-term clinical outcomes after high and low ligations with lymph node dissection around the root of the inferior mesenteric artery in patients with rectal cancer

Purpose@#This study aimed to evaluate the long-term clinical outcomes based on the ligation level of the inferior mesenteric artery (IMA) in patients with rectal cancer. @*Methods@#This was a retrospective analysis of a prospectively collected database that included all patients who underwent elective low anterior resection for rectal cancer between January 2013 and December 2019. The clinical outcomes included oncological outcomes, postoperative complications, and functional outcomes. The oncological outcomes included overall survival (OS) and relapse-free survival (RFS). The functional outcomes, including defecatory and urogenital functions, were analyzed using the Fecal Incontinence Severity Index, International Prostate Symptom Score, and International Index of Erectile Function questionnaires. @*Results@#In total, 545 patients were included in the analysis. Of these, 244 patients underwent high ligation (HL), whereas 301 underwent low ligation (LL). The tumor size was larger in the HL group than in the LL group. The number of harvested lymph nodes (LNs) was higher in the HL group than in the LL group. There were no significant differences in complication rates and recurrence patterns between the groups. There were no significant differences in 5-year RFS and OS between the groups. Cox regression analysis revealed that the ligation level (HL vs. LL) was not a significant risk factor for oncological outcomes. Regarding functional outcomes, the LL group showed a significant recovery in defecatory function 1 year postoperatively compared with the HL group. @*Conclusion@#LL with LNs dissection around the root of the IMA might not affect the oncologic outcomes comparing to HL; however, it has minimal benefit for defecatory function.

Relationship Between Aspirin Use and Site-Specific Colorectal Cancer Risk Among Individuals With Metabolic Comorbidity

Background@#The relationship between aspirin usage and the risk of colorectal cancer (CRC) among individuals with both hypertension (HTN) and diabetes mellitus (DM) remains unclear. This study aims to explore the impact of aspirin use on the site-specific CRC risk in patients with metabolic comorbidity. @*Methods@#A case-control study was conducted among 1,331 CRC patients and 2,771 controls recruited from the Nation Cancer Center in Korea. Multinomial logistic regression analyses were used to calculate the odds ratios (ORs) and 95% confidence intervals (CIs) for the association between aspirin use, metabolic disease status, and site-specific CRC risk. @*Results@#Among the 4,102 participants, 1,191 individuals had neither HTN nor DM, 2,044 were diagnosed with HTN, 203 with DM, and 664 presented with HTN and DM comorbidity.An increasing number of HTN and DM was associated with an increased risk of overall CRC (HTN or DM: OR, 1.70; 95% CI, 1.39–2.07; HTN and DM: OR, 8.43; 95% CI, 6.37–11.16), while aspirin use was associated with a decreased risk of overall CRC (OR, 0.31; 95% CI, 0.21–0.46).These results remained consistent across anatomical sites. Among individuals with HTN and DM comorbidity, aspirin use notably associated with lower risk of overall CRC (OR, 0.39; 95% CI, 0.21–0.72), proximal colon (OR, 0.32; 95% CI, 0.13–0.71) and rectal cancer (OR, 0.27;95% CI, 0.08–0.97), but not distal colon cancer (OR, 0.58; 95% CI, 0.27–1.24). @*Conclusion@#This study showed that aspirin use is negatively associated with overall and sitespecific CRC, even among individuals with HTN and DM comorbidity.

Caregiver Burden of Patients With Huntington’s Disease in South Korea

Objective@#This is the first prospective cohort study of Huntington’s disease (HD) in Korea. This study aimed to investigate the caregiver burden in relation to the characteristics of patients and caregivers. @*Methods@#From August 2020 to February 2022, we enrolled patients with HD from 13 university hospitals in Korea. We used the 12-item Zarit Burden Interview (ZBI-12) to evaluate the caregiver burden. We evaluated the clinical associations of the ZBI-12 scores by linear regression analysis and investigated the differences between the low- and high-burden groups. @*Results@#Sixty-five patients with HD and 45 caregivers were enrolled in this cohort study. The average age at onset of motor symptoms was 49.3 ± 12.3 years, with an average cytosine-adenine-guanine (CAG)n of 42.9 ± 4.0 (38–65). The median ZBI-12 score among our caregivers was 17.6 ± 14.2. A higher caregiver burden was associated with a more severe Shoulson–Fahn stage (p = 0.038) of the patients. A higher ZBI-12 score was also associated with lower independence scale (B = -0.154, p = 0.006) and functional capacity (B = -1.082, p = 0.002) scores of patients. The caregiving duration was longer in the high- than in the low-burden group. Caregivers’ demographics, blood relation, and marital and social status did not affect the burden significantly. @*Conclusion@#HD patients’ neurological status exerts an enormous impact on the caregiver burden regardless of the demographic or social status of the caregiver. This study emphasizes the need to establish an optimal support system for families dealing with HD in Korea. A future longitudinal analysis could help us understand how disease progression aggravates the caregiver burden throughout the entire disease course.

Establishment of a registry of clinical data and bioresources for rare nervous system diseases

Rare diseases are predominantly genetic or inherited, and patients with these conditions frequently exhibit neurological symptoms. Diagnosing and treating many rare diseases is a complex challenge, and their low prevalence complicates the performance of research, which in turn hinders the advancement of therapeutic options. One strategy to address this issue is the creation of national or international registries for rare diseases, which can help researchers monitor and investigate their natural progression. In the Republic of Korea, we established a registry across 5 centers that focuses on 3 rare diseases, all of which are characterized by gait disturbances resulting from motor system dysfunction. The registry will collect clinical information and human bioresources from patients with amyotrophic lateral sclerosis, spinocerebellar ataxia, and hereditary spastic paraplegia. These resources will be stored at ICreaT and the National Biobank of Korea. Once the registry is complete, the data will be made publicly available for further research. Through this registry, our research team is dedicated to identifying genetic variants that are specific to Korean patients, uncovering biomarkers that show a strong correlation with clinical symptoms, and leveraging this information for early diagnosis and the development of treatments.

Stratification of rate of lymph node metastasis according to risk factors and oncologic outcomes in patients who underwent radical resection for rectal neuroendocrine tumors

Purpose@#Most predictive factors for lymph node metastasis in rectal neuroendocrine tumors (NETs) have been based on local and endoscopic resection. We aimed to evaluate the risk factors for lymph node metastasis in patients who underwent radical resection for rectal NETs and stratify the risk of lymph node metastasis. @*Methods@#Sixty-four patients who underwent radical resection for rectal NETs between January 2001 and January 2018 were included. We investigated the risk factors of lymph node metastasis using clinicopathologic data. We also performed a risk stratification for lymph node metastases using the number of previously known risk factors. For oncologic outcomes, the 5-year overall survival and recurrence-free survival were evaluated in both groups. @*Results@#Among the patients who underwent radical surgery, 32 (50.0%) had lymph node metastasis and 32 (50.0%) had non–lymph node metastasis. In the multivariable analysis, only the male sex was identified as a risk factor for lymph node metastasis (odds ratio, 3.695; 95% confidence interval, 1.128–12.105; P=0.031). When there were 2 or more known risk factors, the lymph node metastasis rate was significantly higher than when there were one or no risk factors (odds ratio, 3.667; 95% confidence interval, 1.023–13.143; P=0.046). There was also no statistical difference between the 2 groups in 5-year overall survival (P=0.431) and 5-year recurrence-free survival (P=0.144). @*Conclusion@#We found that the rate of lymph node metastasis increased significantly when the number of known risk factors is 2 or more.

Risk Factors for Lymph Node Metastasis and Oncologic Outcomes in Small Rectal Neuroendocrine Tumors with Lymphovascular Invasion

Background/Aims@#Small rectal neuroendocrine tumors (NETs) are often managed with local resection (endoscopic or transanal excision) owing to their low risk of metastasis and recurrence. However, the clinical significance of lymphovascular invasion in resected specimens remains controversial. In this study, we aimed to analyze the frequency of and risk factors for lymph node metastasis proven by histopathologic examination after radical resection. @*Methods@#We retrospectively reviewed the records of 750 patients diagnosed with a rectal NET at four academic medical centers in South Korea between 2001 and 2019. The frequency of histopathologically proven lymph node metastasis and the associated risk factors were analyzed for small tumors (≤1.5 cm) with lymphovascular invasion. @*Results@#Among 750 patients, 75 had a small tumor (≤1.5 cm) with lymphovascular invasion, of whom 31 patients underwent endoscopic resection only and 44 patients underwent additional radical surgery. Among the 41 patients who underwent surgery and had available data, the rate of regional lymph node metastasis was 48.8% (20/41). In multivariate analysis, the Ki-67 index (odds ratio, 6.279; 95% confidence interval, 1.212 to 32.528; p=0.029) was an independent risk factor for lymph node metastasis. During the mean follow-up period of 37.7 months, only one case of recurrence was detected in the surgery group. The overall survival was not significantly different between radical resection and local resection (p=0.332). @*Conclusions@#Rectal NETs with lymphovascular invasion showed a significantly high rate of regional lymph node metastasis despite their small size (≤1.5 cm).

Association Between Nap and Reported Cognitive Function and Role of Sleep Debt: A Population-Based Study

Background@#and Purpose The relationship between napping and cognition remains controversial. This study aimed to investigate the association between napping and cognition according to sleep debt in the Korean adult population. @*Methods@#A population-based nationwide cross-sectional survey was conducted in 2018. A two-stage stratified random sample of Koreans aged ≥19 years was selected and evaluated using questionnaires by trained interviewers. Cognitive function was assessed using the Mail-In Cognitive Function Screening Instrument (MCFSI). Sleep habits on weekdays and weekends, napping, and subjective sleep requirements were assessed using the questionnaires. Accumulated sleep debt was calculated by subtracting the weekly average sleep duration from subjective sleep requirements. Sleep quality, daytime sleepiness, insomnia, depression, demographics, and comorbidities were assessed. Participants were grouped into those with sleep debt ≤60 min and those with sleep debt >60 min. Multiple linear regression was used to estimate the independent association between the factors and cognition. @*Results@#In total, 2,501 participants were included in the analysis. Naps were reported in 726 (29.0%) participants (nappers). The mean MCFSI score was higher in nappers (3.4±3.6) than in non-nappers (2.3±3.0) (p60 min of napping was associated with better cognitive function in participants with sleep debts >60 min. @*Conclusions@#In general, naps are associated with worse cognitive function in the Korean adult population. However, for those with sleep debt of >60 min, naps for >60 min were associated with better cognitive function.f

Effect of lateral lymph node dissection on the quality of life and genitourinary function after neoadjuvant chemoradiotherapy for rectal cancer

Purpose@#This study was performed to evaluate the quality of life and genitourinary function after total mesorectal excision with lateral lymph node dissection compared to those after total mesorectal excision alone following neoadjuvant chemoradiotherapy for rectal cancer. @*Methods@#Among patients who underwent rectal cancer surgery after completing neoadjuvant chemoradiotherapy between September 2011 and October 2018 at the National Cancer Center, Korea, patients who completed the validated questionnaires before initiation of neoadjuvant chemoradiotherapy and at 3 months and 1 year postoperatively were included in this study. The European Organization for Research and Treatment of Cancer (EORTC) core quality of life questionnaire (QLQ-C30), colorectal cancer-specific quality of life questionnaire (QLQ-CR38), and International Prostate Symptom Score (IPSS) questionnaire were used for collecting data. @*Results@#The total mesorectal excision alone group and the total mesorectal excision with lateral lymph node dissection group included 52 and 38 patients, respectively. The second group included significantly younger patients (P = 0.024), had a higher incidence of clinical T4 stage disease (P = 0.033), estimated blood loss (P = 0.003), and longer operation time (P < 0.001). Significant differences were not observed between the groups with respect to the EORTC QLQ-C30, QLQ-CR38, and IPSS. Multivariable analysis showed that lateral lymph node dissection had no statistically significant association with postoperative urinary dysfunction (P = 0.953). @*Conclusion@#The overall quality of life and urinary function after total mesorectal excision does not differ significantly when lateral lymph node dissection is performed as well.

Standardization of the pathologic diagnosis of appendiceal mucinous neoplasms

Although the understanding of appendiceal mucinous neoplasms (AMNs) and their relationship with disseminated peritoneal mucinous disease have advanced, the diagnosis, classification, and treatment of AMNs are still confusing for pathologists and clinicians. The Gastrointestinal Pathology Study Group of the Korean Society of Pathologists (GPSG-KSP) proposed a multicenter study and held a workshop for the “Standardization of the Pathologic Diagnosis of the Appendiceal Mucinous Neoplasm” to overcome the controversy and potential conflicts. The present article is focused on the diagnostic criteria, terminologies, tumor grading, pathologic staging, biologic behavior, treatment, and prognosis of AMNs and disseminated peritoneal mucinous disease. In addition, GPSG-KSP proposes a checklist of standard data elements of appendiceal epithelial neoplasms to standardize pathologic diagnosis. We hope the present article will provide pathologists with updated knowledge on how to handle and diagnose AMNs and disseminated peritoneal mucinous disease.

Diverting ileostomy itself may not increase the rate of postoperative readmission related to dehydration after low anterior resection

Purpose@#This study was performed to evaluate the risk of readmission in the first year after low anterior resection (LAR) for patients with rectal cancer and to identify the contributing factors for readmission related to dehydration specifically. @*Methods@#This was a retrospective analysis of 570 patients who underwent LAR for rectal cancer at National Cancer Center, Republic of Korea. A diverting loop ileostomy was performed in 357 (62.6%) of these patients. Readmission was defined as an unplanned visit to the emergency room or admission to the ward. The reasons for readmission were reviewed and compared between the ileostomy (n = 357) and no-ileostomy (n = 213) groups. The risk factors for readmission and readmission due to dehydration were analyzed using multivariable logistic and Cox proportional hazard model. @*Results@#Dehydration was the most common cause of readmission in both groups (ileostomy group, 6.7%, and no-ileostomy group, 4.7%, P = 0.323). On multivariable analysis, risk factors for readmission were an estimated intraoperative blood loss of ≥400 mL (odds ratio [OR], 1.757; 95% confidence interval [CI], 1.058–2.918; P = 0.029), and postoperative chemotherapy (OR, 2.914; 95% CI, 1.824–4.653; P < 0.001). On multivariable analysis, postoperative chemotherapy, and not a diverting loop ileostomy, was an independent risk factor for dehydration-related readmission (OR, 5.102; 95% CI, 1.772–14.688; P = 0.003). @*Conclusion@#The most common cause of readmission after LAR for rectal cancer was dehydration, as reported previously. Postoperative chemotherapy, not the creation of a diverting ileostomy, was identified as the risk factor associated with readmission related to dehydration.

Comparison of patient-reported quality of life and functional outcomes following laparoscopic and transanal total mesorectal excision of rectal cancer

Purpose@#The effect of transanal total mesorectal excision (TaTME) on patients’ quality of life and functional outcomes is not fully understood. This study aimed to compare the quality of life and bowel, anorectal, and urogenital functions after laparoscopic and TaTME. @*Methods@#Laparoscopic or TaTME was performed for 202 propensity score-matched patient pairs with rectal cancer between January 2014 and December 2017 at the National Cancer Center, Korea. The outcomes for all patients were assessed using anorectal manometry, the European Organization for Research and Treatment of Cancer (EORTC) Core Quality of Life Questionnaire (QLQ-C30) and Colorectal Cancer-Specific Quality of Life Questionnaire (QLQ-CR38), low anterior resection syndrome (LARS) score, Fecal Incontinence Severity Index, and International Prostate Symptom Score (IPSS). This retrospective comparative study included patients who completed anorectal manometry and the questionnaires before treatment and at 1 year after surgery. @*Results@#The EORTC QLQ-C30 and QLQ-CR38 showed comparable outcomes regarding the quality of life in both groups. More patients experienced major LARS in the transanal group at 1 year postoperatively (31.0% vs. 6.8% in the laparoscopic group, P = 0.004). Multivariable analysis revealed no significant difference in the LARS score between the groups at 1 year postoperatively (odds ratio, 2.30; 95% confidence interval, 0.79–6.72; P = 0.127). Significant differences in the IPSS were not noted between the groups. @*Conclusion@#The quality of life and functional outcomes were comparable between the laparoscopic and transanal approaches; however, our findings suggest a higher rate of LARS after TaTME.

Standardization of the pathologic diagnosis of appendiceal mucinous neoplasms

Although the understanding of appendiceal mucinous neoplasms (AMNs) and their relationship with disseminated peritoneal mucinous disease have advanced, the diagnosis, classification, and treatment of AMNs are still confusing for pathologists and clinicians. The Gastrointestinal Pathology Study Group of the Korean Society of Pathologists (GPSG-KSP) proposed a multicenter study and held a workshop for the “Standardization of the Pathologic Diagnosis of the Appendiceal Mucinous Neoplasm” to overcome the controversy and potential conflicts. The present article is focused on the diagnostic criteria, terminologies, tumor grading, pathologic staging, biologic behavior, treatment, and prognosis of AMNs and disseminated peritoneal mucinous disease. In addition, GPSG-KSP proposes a checklist of standard data elements of appendiceal epithelial neoplasms to standardize pathologic diagnosis. We hope the present article will provide pathologists with updated knowledge on how to handle and diagnose AMNs and disseminated peritoneal mucinous disease.

Diverting ileostomy itself may not increase the rate of postoperative readmission related to dehydration after low anterior resection

Purpose@#This study was performed to evaluate the risk of readmission in the first year after low anterior resection (LAR) for patients with rectal cancer and to identify the contributing factors for readmission related to dehydration specifically. @*Methods@#This was a retrospective analysis of 570 patients who underwent LAR for rectal cancer at National Cancer Center, Republic of Korea. A diverting loop ileostomy was performed in 357 (62.6%) of these patients. Readmission was defined as an unplanned visit to the emergency room or admission to the ward. The reasons for readmission were reviewed and compared between the ileostomy (n = 357) and no-ileostomy (n = 213) groups. The risk factors for readmission and readmission due to dehydration were analyzed using multivariable logistic and Cox proportional hazard model. @*Results@#Dehydration was the most common cause of readmission in both groups (ileostomy group, 6.7%, and no-ileostomy group, 4.7%, P = 0.323). On multivariable analysis, risk factors for readmission were an estimated intraoperative blood loss of ≥400 mL (odds ratio [OR], 1.757; 95% confidence interval [CI], 1.058–2.918; P = 0.029), and postoperative chemotherapy (OR, 2.914; 95% CI, 1.824–4.653; P < 0.001). On multivariable analysis, postoperative chemotherapy, and not a diverting loop ileostomy, was an independent risk factor for dehydration-related readmission (OR, 5.102; 95% CI, 1.772–14.688; P = 0.003). @*Conclusion@#The most common cause of readmission after LAR for rectal cancer was dehydration, as reported previously. Postoperative chemotherapy, not the creation of a diverting ileostomy, was identified as the risk factor associated with readmission related to dehydration.

Comparison of patient-reported quality of life and functional outcomes following laparoscopic and transanal total mesorectal excision of rectal cancer

Purpose@#The effect of transanal total mesorectal excision (TaTME) on patients’ quality of life and functional outcomes is not fully understood. This study aimed to compare the quality of life and bowel, anorectal, and urogenital functions after laparoscopic and TaTME. @*Methods@#Laparoscopic or TaTME was performed for 202 propensity score-matched patient pairs with rectal cancer between January 2014 and December 2017 at the National Cancer Center, Korea. The outcomes for all patients were assessed using anorectal manometry, the European Organization for Research and Treatment of Cancer (EORTC) Core Quality of Life Questionnaire (QLQ-C30) and Colorectal Cancer-Specific Quality of Life Questionnaire (QLQ-CR38), low anterior resection syndrome (LARS) score, Fecal Incontinence Severity Index, and International Prostate Symptom Score (IPSS). This retrospective comparative study included patients who completed anorectal manometry and the questionnaires before treatment and at 1 year after surgery. @*Results@#The EORTC QLQ-C30 and QLQ-CR38 showed comparable outcomes regarding the quality of life in both groups. More patients experienced major LARS in the transanal group at 1 year postoperatively (31.0% vs. 6.8% in the laparoscopic group, P = 0.004). Multivariable analysis revealed no significant difference in the LARS score between the groups at 1 year postoperatively (odds ratio, 2.30; 95% confidence interval, 0.79–6.72; P = 0.127). Significant differences in the IPSS were not noted between the groups. @*Conclusion@#The quality of life and functional outcomes were comparable between the laparoscopic and transanal approaches; however, our findings suggest a higher rate of LARS after TaTME.

Characteristics of minute T1 colorectal cancer in relevance to pathology and treatment

Purpose@#Minute T1 colorectal cancer (CRC) lesions (≤5 mm) are rare; however, little is known about their characteristics and aggressiveness. In this study, we evaluated the characteristics of minute T1 CRC in relevance to pathology and treatment. @*Methods@#This retrospective study included 849 patients with T1 CRC endoscopically or surgically treated between January 2001 and December 2016. The patients were stratified into 4 groups according to tumor size; minute group (≤5 mm), small group (6–10 mm), medium group (11–20 mm), and large group (≥21 mm). Clinicopathological variables were evaluated with respect to tumor size. @*Results@#The incidence of the minute T1 CRC was 2.4% (20 of 849). Minute T1 CRC was significantly associated with flat type (minute, 25%; small, 12.6%; medium, 8.8%; large, 12.6%; P = 0.016), right-sided cancer (30%, 15.4%, 15.4%, 15.1%, P = 0.002) and the absence of background adenoma (BGA) (50%, 40.7%, 32.8%, 18.1%, P < 0.001). In patients who underwent surgery, lymph node metastasis (LNM) was significantly higher in the minute group (36.4%, 15.9%, 15.7%, 9.2%, P = 0.029). @*Conclusion@#Minute T1 CRC is significantly associated with flat type, right-sided cancers, as well as with the absence of BGA and LNM. These results suggested the minute T1 CRC lesions are often aggressive and are likely to be missed during colonoscopy.

Magnetic Resonance-Based Texture Analysis Differentiating KRAS Mutation Status in Rectal Cancer / Journal of the Korean Cancer Association, 대한암학회지

Purpose@#Mutation of the Kirsten Ras (KRAS) oncogene is present in 30%-40% of colorectal cancers and has prognostic significance in rectal cancer. In this study, we examined the ability of radiomics features extracted from T2-weighted magnetic resonance (MR) images to differentiate between tumors with mutant KRAS and wild-type KRAS. @*Materials and Methods@#Sixty patients with primary rectal cancer (25 with mutant KRAS, 35 with wild-type KRAS) were retrospectively enrolled. Texture analysis was performed in all regions of interest on MR images, which were manually segmented by two independent radiologists. We identified potentially useful imaging features using the two-tailed t test and used them to build a discriminant model with a decision tree to estimate whether KRAS mutation had occurred. @*Results@#Three radiomic features were significantly associated with KRASmutational status (p < 0.05). The mean (and standard deviation) skewness with gradient filter value was significantly higher in the mutant KRAS group than in the wild-type group (2.04±0.94 vs. 1.59±0.69). Higher standard deviations for medium texture (SSF3 and SSF4) were able to differentiate mutant KRAS (139.81±44.19 and 267.12±89.75, respectively) and wild-type KRAS (114.55±29.30 and 224.78±62.20). The final decision tree comprised three decision nodes and four terminal nodes, two of which designated KRAS mutation. The sensitivity, specificity, and accuracy of the decision tree was 84%, 80%, and 81.7%, respectively. @*Conclusion@#Using MR-based texture analysis, we identified three imaging features that could differentiate mutant from wild-type KRAS. T2-weighted images could be used to predict KRAS mutation status preoperatively in patients with rectal cancer.

Standardized Pathology Report for Colorectal Cancer, 2nd Edition

The first edition of the ‘Standardized Pathology Report for Colorectal Cancer,’ which was developed by the Gastrointestinal Pathology Study Group (GIP) of the Korean Society of Pathologists, was published 13 years ago. Meanwhile, there have been many changes in the pathologic diagnosis of colorectal cancer (CRC), pathologic findings included in the pathology report, and immunohistochemical and molecular pathology required for the diagnosis and treatment of colorectal cancer. In order to reflect these changes, we (GIP) decided to make the second edition of the report. The purpose of this standardized pathology report is to provide a practical protocol for Korean pathologists, which could help diagnose and treat CRC patients. This report consists of “standard data elements” and “conditional data elements.” Basic pathologic findings and parts necessary for prognostication of CRC patients are classified as “standard data elements,” while other prognostic factors and factors related to adjuvant therapy are classified as “conditional data elements” so that each institution could select the contents according to the characteristics of the institution. The Korean version is also provided separately so that Korean pathologists can easily understand and use this report. We hope that this report will be helpful in the daily practice of CRC diagnosis.

Hereditary Myopathy with Early Respiratory Failure with a Heterozygous TTN Gene Missense Mutation

Hereditary myopathy with early respiratory failure (HMERF) is characterized by early respiratory insufficiency which is inappropriate to the degree of limb muscle weakness. Recently, mutation in TTN gene was found in HMERF patients with the aid of gene sequencing. We describe the first case presenting with distal leg weakness and early respiratory failure confirmed by TTN gene mutation in Korea.

Circadian Rhythm, Sleep Quality, and Health-Related Quality of Life in Korean Middle Adults

Objectives@#The aim of this study is to evaluate relationship of health-related quality of life (HRQoL) with chronotype along with quality and quantity of sleep in Korean middle adults. @*Methods@#Data was derived from the nationwide, cross-sectional study on sleep surveyed 2,501 representative adult Koreans. We collected data from 1,435 participants aged ≥35 years and <65 years to represent Korean middle adults. The Chronotype Questionnaire was used to assess phase and distinctiveness of the circadian rhythm. The Pittsburgh Sleep Quality Index (PSQI) was used to assess sleep quality. Quantity of sleep was investigated by questions regarding sleep habits during workdays and free days. EuroQol-5D 3-level version was used to measure HRQoL. @*Results@#On univariable analyses, eveningness is associated with younger age (47.7±8.2 vs. 51.3±8.1 years, p<0.001), and higher PSQI total score (4.3±2.7 vs. 3.6±2.2, p<0.001) compared with morningness. Strong distinctiveness also associated with higher PSQI total score (4.2±2.3 vs. 3.6±2.5, p< 0.001) compared with weak distinctiveness. Age was not different between the two groups of distinctiveness. On multivariable analyses, strong distinctiveness is an independent factor predicting impairment of pain/discomfort [odd ratio (OR) 1.589, 95% confidence interval (CI) 1.182–2.130] and depression/anxiety (OR 1.412, 95% CI 1.003–1.987). Poor sleep quality was the most powerful independent factor predicting impairments in all five domains of the HRQoL. @*Conclusions@#Sleep quality is an important factor independently related to the HRQoL. Among chronotype variables, only distinctiveness has an independent relation with the HRQoL.

Liver Metastasis of Synchronous Small Rectal Neuroendocrine Tumors in the Absence of Risk Factors / 대한내과학회지

The incidence of rectal neuroendocrine tumors (NETs) has increased worldwide, including in Korea. Rectal NETs are usually single lesions, but synchronous multiple lesions are reported in 2–4.5% of patients. Small rectal NETs (≤ 10 mm) are usually confined to the submucosal layer and rarely give rise to lymph node or distant metastases. Here we describe the case of a 54-year-old woman referred to National Cancer Center for the management of two rectal subepithelial tumors. Because computed tomography revealed a small hepatic nodule suggesting atypical hemangioma rather than metastasis, endoscopic submucosal dissection was performed. However, the size of the nodules increased during follow-up. The pathologic results of a liver biopsy confirmed metastatic NET. This case was unusual in that synchronous small rectal NETs and distant liver metastasis occurred in the absence of any risk factors for metastasis. Thus, patients with rectal NETs should be carefully evaluated, especially for the possibility of metastasis.