Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.

Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.

Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.

Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.

Eosinophilic gastroenteritis is a rare disease in which the symptoms are associated with eosinophilic infiltration in various layers of the gastrointestinal tract. A 56-year-old man complained of severe abdominal pain after eating yellow tail fish and oyster. There was no peripheral blood eosinophilia in the initial laboratory test. Abdominal computed tomography demonstrated circumferential wall thickening and dilatation of small intestine with ascites. An emergency laparotomy accompanied by segmental resection of the ileum and end-to-end anastomosis was performed. Histologically, there was a dense infiltration of eosinophils throughout the entire layers of ileal wall, through which this case could be diagnosed as eosinophilic enteritis. We did not prescribe systemic glucocorticosteroid, but asked him to avoid fish and oyster. He did not complain of recurrent gastrointestinal symptoms anymore after discharge. This is the case of eosinophilic gastroenteritis with intestinal obstruction requiring emergency surgery, which was developed or aggravated after ingestion of yellow tail fish and oyster that were suspected to be culprit foods. In patients with eosinophilic gastroenteritis, foods which are related to this abnormal condition should be identified and avoided to control this disease and prevent from aggravation or flare-up.
Abdominal Pain ; Ascites ; Dilatation ; Eating ; Emergencies ; Enteritis ; Eosinophilia ; Eosinophils* ; Food Hypersensitivity ; Gastroenteritis* ; Gastrointestinal Tract ; Humans ; Ileum ; Intestinal Obstruction* ; Intestine, Small ; Laparotomy ; Middle Aged ; Ostreidae* ; Rare Diseases ; Tail*

Purpose: Using a new robotic endoscopic platform system developed for retrograde intrarenal surgery (RIRS) called easyUretero (ROEN Surgical Inc.), we evaluated the feasibility and safety of renal stone retrieval in a porcine model. Materials and Methods: Six female pigs were used for our in vivo study. First, 0.3-cm-sized phantom stones were inserted into the kidneys of each pig via the ureteral access sheath. Next, renal stone retrieval was attempted using manual RIRS in three pigs and robotic RIRS in three pigs. Three surgeons performed extraction of 10 stones in each session. Results: The mean stone retrieval time by manual RIRS was significantly shorter than that by robotic RIRS (399.9±185.4 sec vs. 1127.6±374.5 sec, p=0.001). In contrast, the questionnaire regarding usability showed high satisfaction in the surgeons’ fatigue category for surgeons using robotic RIRS. The radiation exposure dose was also lower in robotic RIRS than in manual RIRS (0.14 μSv vs. 45.5 μSv). Postoperative ureteral injury assessment revealed Grade 0 in manual RIRS cases and Grades 0, 1, and 2 in robotic RIRS cases. Conclusion The easyUretero system is a new robotic RIRS system that was developed in Korea. The results of the present study suggest that using easyUretero for stone retrieval during RIRS is safe and ergonomic.

Endoscopic retrograde cholangiopancreatography (ERCP) is an advanced therapeutic procedure to manage choledocholithiasis and pancreatobiliary malignancy. On occasion, ERCP failure is encountered due to difficulties in cannulation. We assessed the safety and feasibility of cap-assisted ERCP via analyzing cases in which cannulation was complicated by periampullary diverticulum. Between November 2013 and March 2014, ERCP procedures were performed in 346 patients in our tertiary medical center. Among the 73 patients who had a periampullary diverticulum, conventional ERCP failed in 5 patients due to hidden papilla (n=3) or use of tangential approach (n=2). As a rescue method, needle knife fistulotomy and selective biliary cannulation using cap-fitted forward-viewing endoscopy were successfully used in 4 patients without major complications. Based on our experience, cap-fitted forward-viewing endoscopy was relatively easy to measure the exact position of papilla and to perform biliary cannulation properly. Therefore, we recommend using cap-assisted ERCP by forward-viewing endoscopy as a useful and safe alternative to manage patients in whom cannulation is complicated by periampullary diverticulum.
Catheterization* ; Cholangiopancreatography, Endoscopic Retrograde* ; Choledocholithiasis ; Diverticulum* ; Endoscopy ; Humans ; Methods ; Needles

Abalone is popular seafood in Asia; however, allergy to abalone was rarely reported. We report a case of anaphylaxis after consumption of abalone. A 24-year-old female visited an Emergency Department, complaining of cough, dyspnea, rhinorrhea, generalized urticaria, facial edema, and wheezing that had developed 1 hour after consumption of abalone. She was discharged when her symptoms subsided after antihistamine and dexamethasone were given. One month later, she was referred to our outpatient clinic. We performed skin prick tests, measurement of serum specific IgE antibody level, and sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) with IgE immunoblotting. Both skin prick and specific IgE antibody tests were positive for abalone crude extract. In SDS-PAGE with IgE immunoblotting, we identified possible antigens sized 55, 100, and 25 kDa, respectively. This is the first case of abalone-induced anaphylaxis in Korea.
Ambulatory Care Facilities ; Anaphylaxis* ; Asia ; Cough ; Dexamethasone ; Dyspnea ; Edema ; Electrophoresis ; Electrophoresis, Polyacrylamide Gel ; Emergency Service, Hospital ; Female ; Food Hypersensitivity ; Humans ; Hypersensitivity ; Immunoblotting ; Immunoglobulin E ; Korea ; Respiratory Sounds ; Seafood ; Shellfish ; Skin ; Sodium ; Urticaria ; Young Adult

BACKGROUND/AIMS: Although some previous studies reported that a treatment combined with mucoprotective agent could improve the eradication rate in dual or triple therapy, there are other reports that question the efficacy of combining these drugs in concomitant therapy (CoCTx). The aim of this study was to investigate the effects of rebamipide or ecabet on the Helicobacter pylori (H. pylori) eradication combined with CoCTx. METHODS: We retrospectively reviewed the medical records of 277 patients with proven H. pylori infection. They were assigned to one of 3 regimens for 10 days, twice daily: (a) CoCTx (n=118): lansoprazole 30 mg, amoxicillin 1 g, metronidazole 500 mg, and clarithromycin 500 mg; (b) CoCTx+rebamipide (100 mg) (n=85); (c) CoCTx+ecabet (1 g) (n=74). RESULTS: The baseline characteristics were not significantly different. H. pylori eradication rates were 82.2% (97/118) in CoCTx, 90.6% (77/85) in CoCTx+rebamipide, and 89.2% (66/74) in CoCTx+ecabet (p=0.17), which were statistically insignificant. Overall adverse events were more frequently reported in the CoCTx+rebamipide (50.6%. 43/85) and CoCTx+ecabet (44.6%, 33/74) groups than in the CoCTx (32.2%, 38/118) (p = 0.03) group. Drug compliances were not different between three groups (CoCTx: 95.8%, 113/118; CoCT+rebamipide: 92.9%, 79/85; CoCTx+ecabet 98.6%,73/74) (p=0.209). Multivariate analysis showed that the risk of eradication failure was significantly increased with decreased drug compliance (odds ratio 3.52, 95% confidence interval 1.00–12.32; p=0.05). CONCLUSIONS: Addition of these mucoprotective agent was not superior to CoCTx alone for eradicating H. pylori infection with frequent adverse events. Rather, drug compliance is the most related factor affecting the eradication rate. Our data suggest the importance of drug compliance over the drugs used.
Amoxicillin ; Clarithromycin ; Compliance ; Helicobacter pylori* ; Helicobacter* ; Humans ; Lansoprazole ; Medical Records ; Metronidazole ; Multivariate Analysis ; Retrospective Studies ; Sodium*