Colorectal cancer is the third most common cancer in Korea and the third leading cause of death from cancer. Treatment outcomes for colon cancer are steadily improving due to national health screening programs with advances in diagnostic methods, surgical techniques, and therapeutic agents.. The Korea Colon Cancer Multidisciplinary (KCCM) Committee intends to provide professionals who treat colon cancer with the most up-to-date, evidence-based practice guidelines to improve outcomes and help them make decisions that reflect their patients’ values and preferences. These guidelines have been established by consensus reached by the KCCM Guideline Committee based on a systematic literature review and evidence synthesis and by considering the national health insurance system in real clinical practice settings. Each recommendation is presented with a recommendation strength and level of evidence based on the consensus of the committee.

The Shprintzen–Goldberg syndrome (SGS) is an extremely rare genetic disorder caused by heterozygous variant in SKI . SGS is characterized by neurodevelopmental impairment with skeletal anomaly. Recognition of SGS is sometimes quite challenging in practice because it has diverse clinical features involving skeletal, neurological, and cardiovascular system. Here we report a case of a 6-month-old boy who initially presented with developmental delay and marfanoid facial features including prominent forehead, hypertelorism, high arched palate and retrognathia. He showed motor developmental delay since birth and could not control his head at the time of first evaluation. His height was above 2 standard deviation score. Arachnodactyly, hypermobility of joints, skin laxity, and pectus excavatum were also noted. Sequencing for FBN1 was negative, however, a novel missense variant, c.350G>A in SKI was identified by sequential whole exome sequencing. To our knowledge, this is the first case with SGS with phenotypic features of SGS overlapping with those of the Marfan syndrome, diagnosed by next generation sequencing in Korea.

BACKGROUND: Hepatitis B virus (HBV) infection leads to hepatic and extrahepatic manifestations including chronic kidney disease (CKD). However, the association between HBV and CKD is not clear. This study investigated the association between chronic HBV infection and CKD in a nationwide multicenter study. METHODS: A total of 265,086 subjects who underwent health-check examinations in 33 hospitals from January 2015 to December 2015 were enrolled. HBV surface antigen (HBsAg) positive cases (n = 10,048), and age- and gender-matched HBsAg negative controls (n = 40,192) were identified. CKD was defined as a glomerular filtration rate (GFR) < 60 mL/min/1.73 m² or proteinuria as at least grade 2+ of urine protein. RESULTS: HBsAg positive cases showed a significantly higher prevalence of GFR < 60 mL/min/1.73 m² (3.3%), and proteinuria (18.9%) than that of the controls (2.6%, P < 0.001, and 14.1%, P < 0.001, respectively). In the multivariate analysis, HBsAg positivity was an independent factor associated with GFR < 60 mL/min/1.73 m² along with age, blood levels of albumin, bilirubin, anemia, and hemoglobin A1c (HbA1c). Likewise, HBsAg positivity was an independent factor for proteinuria along with age, male, blood levels of bilirubin, protein, albumin, and HbA1c. A subgroup analysis showed that HBsAg positive men but not women had a significantly increased risk for GFR < 60 mL/min/1.73 m². CONCLUSION: Chronic HBV infection was significantly associated with a GFR < 60 mL/min/1.73 m² and proteinuria (≥ 2+). Therefore, clinical concern about CKD in chronic HBV infected patients, especially in male, is warranted.
Anemia ; Antigens, Surface ; Bilirubin ; Case-Control Studies* ; Female ; Glomerular Filtration Rate ; Hepatitis B Surface Antigens ; Hepatitis B virus ; Hepatitis B, Chronic* ; Hepatitis, Chronic* ; Humans ; Male ; Multivariate Analysis ; Prevalence ; Proteinuria ; Renal Insufficiency, Chronic*

BACKGROUND AND OBJECTIVES: This study aims to evaluate the usefulness of customized vestibular exercise through literature review. MATERIALS AND METHOD: We searched several literature database such as Ovid-MEDLINE, Ovid-EMBASE, and Cochrane Library etc., with the following inclusion criteria: 1) studies of patients with dizziness and balance disorders, 2) studies in which a customized vestibular exercise was performed, and 3) studies in which one or more of the appropriate medical outcomes have been reported. At the same time, we excluded the following: 1) non-human studies and pre-clinical studies, 2) non-original articles, for example, non-systematic reviews, editorial, letter and opinion pieces, 3) research not published in Korean and English, 4) grey literature (thesis, congress or conference materials, abstract etc.), and 5) case studies. Finally, 10 studies were selected and analyzed. RESULTS: The safety of customized vestibular exercise was reported in three documents which reported no side effects related to the procedure. The effectiveness of customized vestibular exercise was proven by the assessment of symptom change, functional change, and other physiological measures based on a total of 10 randomized clinical trial studies. CONCLUSION: For patients with vestibular dysfunction, a customized vestibular exercise can be a safe and effective technique for improving dizziness and balance function.
Dizziness ; Humans ; Methods

Granular cell tumor (GCT) is an uncommon, usually benign neoplasm; however, a malignant potential has been described. Malignant GCT is an extremely rare neoplasm showing rapid growth and invasion into adjacent muscles, lymph nodes, or vessels, or even distant metastasis. We recently experienced a case of a histologically benign or atypical but clinically malignant GCT, with invasion of the lymph nodes and vessels in the sigmoid colon, diagnosed by segmental colon resection with lymph node dissection. We also performed a review of relevant medical literature.
Colon ; Colon, Sigmoid* ; Granular Cell Tumor* ; Lymph Node Excision ; Lymph Nodes ; Muscles ; Neoplasm Metastasis

Alexander disease is a rare degenerative leukodystrophy caused by dominant mutations in glial fibrillary acidic protein (GFAP). The neonatal form of Alexander disease may manifest as frequent and intractable seizures or obstructive hydrocephalus, with rapid progression leading to severe disability or death within two years. We report a case of a 50-day-old male who presented with intractable seizures and obstructive hydrocephalus. His initial magnetic resonance imaging (MRI) suggested a tumor-like lesion in the tectal area causing obstructive hydrocephalus. Despite endoscopic third ventriculostomy and multiple administrations of antiepileptic drugs, the patient experienced intractable seizures with rapid deterioration of his clinical status. After reviewing serial brain MRI scans, Alexander disease was suspected. Subsequently, we confirmed the de novo missense mutation in GFAP (c.1096T>C, Y366H). Although the onset was slightly delayed from the neonatal period (50 days old), we concluded that the overall clinical features were consistent with the neonatal form of Alexander disease. Furthermore, we also suspected that a Y366 residue might be closely linked to the neonatal form of Alexander disease based on a literature review.
Alexander Disease* ; Anticonvulsants ; Brain ; Glial Fibrillary Acidic Protein ; Humans ; Hydrocephalus* ; Magnetic Resonance Imaging ; Male ; Mutation, Missense ; Seizures* ; Ventriculostomy

PURPOSE: The study was aimed to investigate the effectiveness and tolerability of intravenous fosphenytoin (fPHT) in the treatment of pediatric status epilepticus (SE). METHODS: Medical-records of patients who received intravenous (IV) fPHT for the treatment of SE were retrospectively reviewed and their clinical data were analyzed regarding age, gender, seizure types, underlying neurologic status, use of other anticonvulsants, loading dose, response and adverse events of IV fPHT. RESULTS: Twenty patients (12 boys and 8 girls) were included in the study. The mean age at administration of IV fPHT was 3.98 years (range 0-18.6 years). Of the 20 patients, 15 patients had no underlying neurological conditions, but five patients were on anticonvulsants. IV fPHT terminated the seizures in 15 of the 20 patients (75%). No adverse events occurred during or after the infusions. CONCLUSION: This study demonstrated that IV fPHT was as effective as phenytoin and was well-tolerated in the treatment of pediatric SE. IV fPHT can be considered as a substitute for phenytoin in the management of pediatric SE.
Anticonvulsants ; Humans ; Phenytoin ; Retrospective Studies ; Seizures ; Status Epilepticus

The aim of this study was to describe the incidence of metabolic syndrome and to identify five components as metabolic syndrome predictors. The final study included 1,095 subjects enrolled in a rural part of Daegu Metropolitan City, Korea for a cohort study in 2003. Of these, 762 (69.6%) subjects had participated in the repeat survey. During the five-year follow-up, incidence density was significantly higher for women than for men (men, 30.0/1,000 person-years; women, 46.4/1,000 person-years). In both men and women, incidence of metabolic syndrome showed a significant increase with increasing number of metabolic syndrome components at baseline. Compared with individuals presenting none of components at baseline, relative risks were increased 1.22 (men; 95% CI, 0.43-3.51), 2.21 (women; 95% CI, 0.98-4.97) times more for individuals with one component of metabolic syndrome and 5.30 (men; 95% CI, 2.31-12.13), 5.53 (women; 95% CI, 2.78-11.01) times more for those who had two components. In multivariate analysis, the most powerful risk factor for metabolic syndrome was abdominal obesity in men and low HDL-cholesterol in women (adjusted relative risk, 3.28, 2.53, respectively). Consequently, finding a high risk group for metabolic syndrome according to gender and prevention of metabolic syndrome through lifestyle modification are essential.
Adult ; Aged ; Cholesterol, HDL/blood ; Cohort Studies ; Diabetes Mellitus, Type 2/complications ; Female ; Follow-Up Studies ; Humans ; Hypertension/complications ; Hypertriglyceridemia/complications ; Incidence ; Male ; Metabolic Syndrome X/complications/*epidemiology ; Middle Aged ; Multivariate Analysis ; Obesity, Abdominal/complications ; Republic of Korea/epidemiology ; Risk Factors

PURPOSE: The purpose of the study was to evaluate the efficacy and safety of rufinamide for intractable generalized epilepsies. METHODS: Eighteen patients with intractable generalized epilepsies were included in the study. Their medical records were retrospectively reviewed. Rufinamide was administered as an add-on treatment for intractable epilepsies. The initial administered dose was 10 mg/kg/day, which was subsequently titrated up to 30-50 mg/kg/day. The effectiveness was assessed by comparing the frequency of seizures after the treatment. The difference in number of seizures during 4 weeks was compared before and after reaching the final dose. RESULTS: The study population consisted of 13 males and 5 females (mean age 13.6+/-6.2 years, range 3.3-29.2 years). The responder rate (> or =50% in seizure frequency) was 39% and the seizure free rate was 11%. Retention rate was 44% and the reasons for withdrawal was adverse events (6/18 patients, 33%), aggravation of seizures (4/18 patients, 22%), and ineffectiveness (2/18 patients, 11%). Adverse events included hyperactivity, somnolence, ataxia and polyhidrosis. Adverse events and seizure aggravation occurred even at the starting dose of rufinamide treatment. CONCLUSION: Rufinamide can be used as an efficacious and safe adjunctive anticonvulsant for patients with intractable generalized epilepsy.
Ataxia ; Epilepsy ; Epilepsy, Generalized ; Female ; Humans ; Male ; Medical Records ; Retention (Psychology) ; Retrospective Studies ; Seizures ; Triazoles

BACKGROUND/AIMS: The meaning of specialized intestinal metaplasia (SIM) in the diagnosis of Barrett's esophagus (BE) is not clear. This study was designed to determine the clinical significance of SIM in the diagnosis of Barrett's esophagus. MATERIALS AND METHODS: Biopsies were taken from 601 subjects with endoscopically suspected columnar-lined esophagus. Under light microscopy with Alcian-blue stain, SIM was identified. Demographic characteristics, gastroesophageal (GE) reflux symptoms and endoscopic findings were compared between the SIM-present group and the SIM-absent group. RESULTS: Among 601 subjects, 184 (30.6%) were confirmed by pathology to have SIM. Age over 40 years (P<0.001) and a medication history of proton pump inhibitor or H2 blocker were found more frequently in the SIM-present group (P=0.01) than in the SIM-absent group. Any of 7 GE reflux symptoms (heartburn, acid regurgitation, chest pain, hoarseness, globus sensation, cough and epigastric soreness) were more frequent in the SIM-present group than SIM-absent group (P<0.001). Specifically, heartburn, chest pain and cough were significantly more common in the SIM-present group. There was no clinically significant difference associated with endoscopic findings or other clinical characteristics. CONCLUSIONS: When subjects with endoscopically suspected BE are analyzed based on the presence or absence of SIM, the SIM-present group was significantly associated with GE reflux symptoms suggestive of frequent GE reflux. However, the presence of SIM did not correlate with endoscopic findings.
Barrett Esophagus ; Biopsy ; Chest Pain ; Cough ; Esophagus ; Gastroesophageal Reflux ; Heartburn ; Hoarseness ; Light ; Metaplasia ; Microscopy ; Prospective Studies ; Proton Pumps ; Sensation