Scleral Lens Applications Focused on Korean Patients with Various Corneal Disorders

Purpose@#We aimed to report on the clinical outcomes of scleral lens applications in Korean patients with various corneal disorders. @*Methods@#This retrospective review was conducted for 62 eyes of 47 patients who had been fitted with scleral lenses for various corneal disorders. The patients were referred for inadequate spectacle-corrected visual acuity and rigid gas permeable (RGP) or soft contact lens intolerance. Uncorrected visual acuity, habitually corrected visual acuity, best lens-corrected visual acuity, topographic indices, keratometry indices, and lens parameters were evaluated. @*Results@#Twenty-six eyes of 19 patients with keratoconus were enrolled. Other conditions included corneal scar (13 eyes of 12 patients), phlyctenules (three eyes), laceration (four eyes), chemical burn (one eye), keratitis (one eye), Peters’ anomaly (one eye), fibrous dysplasia (one eye), ocular graft-versus-host disease (two eyes of one patient), irregular astigmatism (18 eyes of 12 patients), and corneal transplant status (five eyes of four patients). The mean topographic values of the eyes include flat keratometric value (43.0 ± 6.1 diopters [D]), steep keratometric value (48.0 ± 7.4 D), and astigmatism (4.9 ± 3.6 D). Of the eyes fitted with scleral lenses, best lens-corrected visual acuity (0.10 ± 0.22 logarithm of the minimum angle of resolution [logMAR]) was significantly better than the habitually corrected visual acuity (0.59 ± 0.62 logMAR, p < 0.001). @*Conclusions@#Scleral contact lenses are a good alternative for patients with corneal abnormalities and those who are intolerable to RGP contact lenses, resulting in both successful visual outcomes and patient satisfaction, especially concerning keratoconus, corneal scar, and corneal transplant status.

Dentists’ Recognition of Child Abuse and Neglect and Mandatory Attitude to Report / 대한소아치과학회지

In this study, the recognition of child abuse and neglect (CAN) and reporting attitudes of general dentists and pediatric dentists in Korea were estimated. A survey was conducted among dentists working at clinics or university hospitals, including interns and residents at dental hospital training institutions. The questionnaire, consisting of 32 questions and detailed questions, subdivided into ‘general characteristics of respondents’, ‘CAN’, ‘CAN report’, ‘laws to CAN’, ‘countermeasures against CAN’. The survey was conducted using a messenger, and 176 respondents’ answers were analyzed. The recognition of CAN showed high scores in the order of physical abuse, neglect, and emotional abuse. The positive attitude toward reporting CAN had a higher score than the negative attitude. Of the total respondents, 19 said they reported child abuse, and 18 said they were suspected of child abuse but hesitated to report it. Among the laws related to CAN, the protection measures for CAN reporters and the protocol for CAN showed low awareness. Since then, they have wanted to know how to find abused children and how to deal with them in education. This study is expected to be used as data to improve dentists’ awareness and consciousness of CAN in the future.

Association Between Gut Regulatory Hormones and Post-operative Weight Loss Following Gastrectomy in Patients With Gastric Cancer

Background/Aims@#Post-operative weight loss in patients with gastric cancer lead to a poor quality of life and long-term survival. This study aims to evaluate the effects of gut regulatory hormones on post-operative weight loss in patients with subtotal gastrectomy for gastric cancer. @*Methods@#This prospective study was conducted for 12 months post-surgery in 14 controls and 13 gastrectomy patients who underwent subtotal gastrectomy for gastric cancer. Serum plasma ghrelin, glucagon-like peptide-1, gastric inhibitory peptide-1, peptide YY, insulin, and homeostatic model assessment for insulin resistance responses to a standardized test meal were recorded at multiple time points before and after gastrectomy at 4 and 12 months. @*Results@#The mean weight difference between the pre-operative state and the 4-month period was significantly reduced to 6.6 kg (P = 0.032), but significant weight reduction was not observed from 4 months to 12 months. The plasma levels of glucagon-like peptide-1, gastric inhibitory peptide-1, and peptide YY were significantly increased 4 months postoperatively compared to the pre-operative state (all P= 0.035); however, pre-operative levels and relative changes over a period of 0-4 months of hormones were not correlated with body weight changes. Only the pre-operative ghrelin at peak had a negative correlation with changes in weight reduction in the 4 months after surgery (P = −0.8, P = 0.024). @*Conclusions@#Significant weight reduction was common after subtotal gastrectomy for gastric cancer with a negative correlation pre-operative plasma ghrelin levels. Incretin hormones are modestly but significantly increased after subtotal gastrectomy; however, these changes did not affect the weight changes.

Short-term Effect of Gamma Knife Radiosurgery for a Choroidal Tumor

Purpose@#To evaluate the effectiveness and safety of treating choroidal melanoma and cancer that has metastasized to the choroid with gamma knife radiosurgery (GKR). @*Methods@#We performed a retrospective chart review that included 10 eyes of eight patients with a diagnosis of choroidal tumors who underwent GKR between January 2016 and February 2019 and who had at least one month follow-up visit. @*Results@#The mean patient age was 57.9 ± 14.6 years (range, 32-83 years). The choroidal tumor group included six choroidal metastases and four choroidal melanomas. The mean follow-up period after GKR was 7.0 ± 4.3 months (range, 2-13 months). The mean cumulative marginal dose was 25.36 ± 7.35 Gy (range, 16-45 Gy). Pre- and postoperative magnetic resonance imaging revealed a reduction in tumor volume in eight of the 10 eyes and five of them presented with improved visual symptoms. One patient showed increased tumor volume; however, a new choroidal lesion was not observed. Another patient showed no reduction in tumor size; however, the pain had worsened, and the eye was enucleated. The mean maximum tumor diameter decreased from 1.60 ± 0.37 cm before to 1.22 ± 0.47 cm after GKR (p = 0.004), and the mean minimum diameter decreased from 0.62 ± 0.27 cm before to 0.38 ± 0.35 cm after GKR (p = 0.031). No radiation-induced optic neuropathy, retinopathy, or cataracts was observed in any of the cases during the follow-up period. @*Conclusions@#GKR was shown to be safe for choroidal lesions identified in orbital magnetic resonance imaging with a reduction in the size of choroidal tumors and eyeball preservation expected with this treatment approach.

Short-term Effect of Gamma Knife Radiosurgery for a Choroidal Tumor

Purpose@#To evaluate the effectiveness and safety of treating choroidal melanoma and cancer that has metastasized to the choroid with gamma knife radiosurgery (GKR). @*Methods@#We performed a retrospective chart review that included 10 eyes of eight patients with a diagnosis of choroidal tumors who underwent GKR between January 2016 and February 2019 and who had at least one month follow-up visit. @*Results@#The mean patient age was 57.9 ± 14.6 years (range, 32-83 years). The choroidal tumor group included six choroidal metastases and four choroidal melanomas. The mean follow-up period after GKR was 7.0 ± 4.3 months (range, 2-13 months). The mean cumulative marginal dose was 25.36 ± 7.35 Gy (range, 16-45 Gy). Pre- and postoperative magnetic resonance imaging revealed a reduction in tumor volume in eight of the 10 eyes and five of them presented with improved visual symptoms. One patient showed increased tumor volume; however, a new choroidal lesion was not observed. Another patient showed no reduction in tumor size; however, the pain had worsened, and the eye was enucleated. The mean maximum tumor diameter decreased from 1.60 ± 0.37 cm before to 1.22 ± 0.47 cm after GKR (p = 0.004), and the mean minimum diameter decreased from 0.62 ± 0.27 cm before to 0.38 ± 0.35 cm after GKR (p = 0.031). No radiation-induced optic neuropathy, retinopathy, or cataracts was observed in any of the cases during the follow-up period. @*Conclusions@#GKR was shown to be safe for choroidal lesions identified in orbital magnetic resonance imaging with a reduction in the size of choroidal tumors and eyeball preservation expected with this treatment approach.

Development, validation, and application of a novel tool to measure disease-related knowledge in patients with inflammatory bowel disease

BACKGROUND/AIMS: The Crohn's and Colitis Knowledge (CCKNOW) score does not reflect updated knowledge relating to inflammatory bowel disease (IBD). The aim of this study was to develop, validate, and apply a novel tool to measure disease-related knowledge in IBD patients. METHODS: A questionnaire composed of 24 items regarding knowledge of IBD was developed: Inflammatory Bowel Disease Knowledge (IBD-KNOW). Discriminate ability of IBD-KNOW was validated in three occupational groups (14 doctors, 20 nurses, and 19 clerks). The CCKNOW and IBD-KNOW were administered to IBD patients. Factors affecting the level of IBD-related knowledge were analyzed. RESULTS: The median Inflammatory Bowel Disease Knowledge (IBD-KNOW) score was significantly different among the three groups for validation (22 doctors, 20 nurses, and five clerks; p < 0.001). The IBD-KNOW showed excellent internal consistency (Cronbach α = 0.952) and high correlation with CCKNOW (Spearman ρ = 0.827, p = 0.01). A total of 200 IBD patients (120 Crohn's disease, 80 ulcerative colitis) completed questionnaires. Multivariate analysis showed that a higher IBD-KNOW score than the median was associated with hospitalization history (odds ratio [OR], 2.625; p = 0.003), high education level (OR, 2.498; p = 0.012), and information acquired from patient organization (OR, 3.305, p = 0.035). CONCLUSIONS: The IBD-KNOW demonstrated excellent test characteristics. Hospitalization history, education level, and information acquired from patient organization play an important role in correct IBD-related knowledge.

Degranulated Eosinophils Contain More Fine Nerve Fibers in the Duodenal Mucosa of Patients With Functional Dyspepsia

BACKGROUND/AIMS: Functional dyspepsia (FD) is characterized as chronic recurrent upper gastrointestinal symptoms in the absence of any organic disorder. We hypothesized that duodenal low-grade inflammation activates superficial afferent nerve sprouting, thereby contributing to hypersensitivity in patients with FD. METHODS: A prospective case-control study was conducted in a tertiary referral center. FD was defined using the Rome III criteria. Standardized endoscopic biopsies were performed in the stomach and duodenum. Hematoxylin and eosin staining and immunohistochemical staining for major basic proteins were performed to detect granulated eosinophil-derived granules, and S-100 staining was performed to detect fine nerve fibers. RESULTS: A total of 51 patients with FD (82% female; mean age 35.8 ± 13.4 years) and 35 controls were enrolled. Activated eosinophil counts in the duodenum were significantly higher in patients with FD than in controls (41.4% vs 17.1%, P = 0.005). Microscopic duodenitis was more frequently detected in patients with FD than in controls. Fine nerve fibers were more abundant in patients with FD than in controls (45.1% vs 11.4%, P = 0.029). The abundance of fine nerve fibers highly correlated with the degree of activated eosinophils. CONCLUSION: Duodenal low-grade inflammation, such as mucosal eosinophilic accumulation with degranulation, promoted mucosal enteric nerve fiber density and sprouting in patients with FD.

Influence of anti-tumor necrosis factor-alpha therapy to pregnant inflammatory bowel disease women and their children's immunity

BACKGROUND/AIMS: The onset of inflammatory bowel disease (IBD) usually occurs at young age, and therefore, women IBD patients experience pregnancy during their disease progression. Recently, the use of anti-tumor necrosis factor-α (anti-TNF-α) has been rapidly increasing. The aim of this study was to evaluate pregnancy related outcomes in women with IBD who were treated with anti-TNF-α during pregnancy and immunity of their children. METHODS: Korean women with IBD who had been treated with anti-TNF-α during pregnancy had been enrolled. Medical records were reviewed and a survey was performed for each patient. For the patients who agreed on additional examination for their children, children's growth, medical history and antibody to hepatitis B surface antigen (anti-HBs) titer were checked. RESULTS: All 18 patients had been diagnosed with Crohn's disease. There was not any case of preterm delivery, low birth-weight infant, congenital anomaly, nor stillbirth. All 12 children had followed the regular vaccination schedule for hepatitis B and 4 of them showed negative results for anti-HBs. After the 1 booster vaccination, all children demonstrated seroconversion. Regarding live vaccines, 4 children had bacillus Calmette-Guerin and 4 had rotavirus vaccine before 6 months, without any specific side effects. CONCLUSIONS: This was the first study of immunity of the children born from IBD women who had been treated with anti-TNF-α medication during their pregnancy. IBD women had comparable pregnancy outcomes with the general women population, suggesting that the disease activity rather than the administered medication would be more important in healthy pregnancy. Considering the history of vaccination and anti-HBs titers, immunity seems to be intact in the children.

Clinical Course of Percutaneous Endoscopic Gastrostomy: A Single-center Observational Study / 대한소화기학회지

BACKGROUND/AIMS: Percutaneous endoscopic gastrostomy (PEG) is a widely used method for long-term tube feeding. This study aimed to investigate the clinical characteristics and outcomes of patients who utilized long-term feeding tube via PEG. METHODS: The medical records of 137 patients who underwent PEG tube insertion at Ewha Womans University Mokdong Hospital between January 2002 and December 2013 were reviewed. RESULTS: PEG was indicated most frequently for cerebrovascular accidents (66 patients, 48.2%), followed by head and neck cancer (20 patients, 14.6%), and Parkinson's disease (10 patients, 7.3%). The tubes were endoscopically inserted in 133 patients (97.1%); 4 patients (2.9%) underwent radiologic intervention. The tubes of 90 patients (65.7%) were exchanged at least once during the follow-up period. At the first exchange, 71 patients (78.9%) had their tubes exchanged by endoscopy, 24 patients (16.7%) by manually, and 4 patients (4.4%) by radiologic intervention. Of the 61 patients (44.5%) who had their tubes exchanged twice, 44 patients (72.1%) changed their tubes by endoscopic exchange, 13 patients (21.3%) by manually, and 4 patients (4.4%) via radiologic intervention. The mean time interval between the initial insertion and the first exchange was 9.83±6.19 months, and that between the initial insertion and the second exchange was 10.7±6.25 months. Of all the 137 patients, acute complications at initial insertion occurred in only 18 patients (13.1%), with insertion site infection (9 patients, 6.6%) being the most common acute complication. CONCLUSIONS: PEG appears to be a safe procedure for providing long-term tube feeding. Our results may help to develop strategies for further management of subjects receiving feeding tubes via PEG.

The Therapeutic Efficacy of Tonsil-derived Mesenchymal Stem Cells in Dextran Sulfate Sodium-induced Acute Murine Colitis Model / 대한소화기학회지

BACKGROUND/AIMS: Mesenchymal stem cells (MSCs) are multipotent progenitor cells currently under investigation for its efficacy as the treatment for inflammatory bowel disease. In this study, we evaluated the efficacy of tonsil-derived mesenchymal stem cells (T-MSCs) as a novel source of mesenchymal stem cells and traced their localization in a murine model of acute colitis induced by dextran sulfate sodium (DSS). METHODS: C57BL/6 mice were randomly assigned to the following three groups: the normal control group, DSS colitis group (DSS+phosphate buffered saline), and T-MSC group (DSS+T-MSCs, 1×106). The severity of colitis was assessed by determining the severity of symptoms of colitis, colon length, histopathologic grade, and levels of inflammatory cytokines. T-MSCs labeled with PKH26 were traced in vivo. RESULTS: The T-MSC group, compared with the DSS colitis group, showed a significantly lower disease activity index (11.3±1.5 vs. 8.3±1.9, p=0.015) at sacrifice and less reduction of body weight (-17.1±5.0% vs. -8.1±6.9%, p=0.049). In the T-MSC group, the histologic colitis score was significantly decreased compared with the DSS colitis group (22.6±3.8 vs. 17.0±3.4, p=0.039). IL-6 and IL-1β, the pro-inflammatory cytokines, were also significantly reduced after a treatment with T-MSCs. In vivo tracking revealed no PKH26-labelled T-MSCs in the colonic tissue of mice with acute colitis. CONCLUSIONS: In the acute colitis model, we demonstrated that the administration of T-MSCs ameliorates inflammatory symptoms and histology. Moreover, the anti-inflammatory activities of T-MSCs were independent of gut homing.

Multidisciplinary Approach to Refractory Upper Gastrointestinal Bleeding: Case Series of Angiographic Embolization

Although medical and endoscopic hemostasis is now considered as the first-line therapy for nonvariceal upper gastrointestinal (UGI) bleeding, refractory bleeding still occurs in 5%–10% of the patients. In these patients, transcatheter arterial embolization (TAE) or surgery is required, but research on embolization for unmanageable UGI bleeding in Korea is scanty. We reviewed the medical records of 518 patients who underwent endoscopic hemostasis during 4 years. Among these subjects, 8 patients who required embolization due to failure of endoscopic hemostasis were enrolled. Mean patient age was 74.00 ± 8.25 years, and rebleeding occurred in 4 patients within 48 hours after TAE. Three patients with duodenal rebleeding underwent surgery, and the other patient with a gastric ulcer underwent endoscopic hemostasis. Nonvariceal UGI bleeding remains a serious clinical challenge, especially in older patients. A multidisciplinary approach including endoscopists, interventional radiologists, and surgeons may be important for the treatment of nonvariceal UGI bleeding.

Sedation-related Adverse Events Associated with a Diagnostic Upper Endoscopy: A Single Center-observational Study

BACKGROUND/AIMS: Appropriate sedation during endoscopy can significantly reduce the discomfort experienced by a patient when the procedure is performed; however, it is associated with several potential risks. Very few reports describe sedation-related adverse events occurring during endoscopy. Our study evaluated the current status of sedation-related adverse events during a diagnostic upper endoscopy. MATERIALS AND METHODS: We reviewed medical records of 5,564 cases of diagnostic upper endoscopy performed using midazolam for sedation at the Ewha Womans University, Mokdong Hospital, between January 2015 and March 2016. RESULTS: Among the 5,564 cases, sedation-related adverse events were reported in 56 cases (1.0%). Among these 56 patients, 30 patients (53.6.%) were men and 26 patients (46.4%) were women. Mean age of the patients was 63.7±15.4 years. The most common adverse event reported was hypoxia, which was observed in 37 patients (0.7%). Other adverse events included sedation failure (18 patients, 0.3%) and delayed discharge from the recovery room due to delayed recovery of consciousness (one patient, 0.02%). Among patients presenting with hypoxia, 35 patients recovered after administration of intravenous flumazenil and oxygen via nasal prongs. Administration of oxygen alone helped recovery in 2 patients. All patients recovered uneventfully with no mortalities registered. CONCLUSIONS: Our study showed that the use of sedative midazolam is relatively safe during an upper endoscopy. The rate of occurrence of adverse events was very low, and no fatal adverse events were observed. However, close observation and continuous monitoring is an essential component of safe sedation during endoscopy.

Complications of Cardiac Catheterization in Structural Heart Disease

BACKGROUND AND OBJECTIVES: Cardiac catheterization is used to diagnose structural heart disease (SHD) and perform transcatheter treatment. This study aimed to evaluate complications of cardiac catheterization and the associated risk factors in a tertiary center over 10 years. SUBJECTS AND METHODS: Total 2071 cardiac catheterizations performed at the Seoul National University Children's Hospital from January 2004 to December 2013 were included in this retrospective study. RESULTS: The overall complication, severe complication, and mortality rates were 16.2%, 1.15%, and 0.19%, respectively. The factors that significantly increased the risk of overall and severe complications were anticoagulant use before procedure (odds ratio [OR] 1.83, p=0.012 and OR 6.45, p<0.001, respectively), prothrombin time (OR 2.30, p<0.001 and OR 5.99, p<0.001, respectively), general anesthesia use during procedure (OR 1.84, p=0.014 and OR 5.31, p=0.015, respectively), and total procedure time (OR 1.01, p<0.001 and OR 1.02, p<0.001, respectively). Low body weight (OR 0.99, p=0.003), severe SHD (OR 1.37, p=0.012), repetitive procedures (OR 1.7, p=0.009), and total fluoroscopy time (OR 1.01, p=0.005) significantly increased the overall complication risk. High activated partial thromboplastin time (OR 1.04, p=0.001), intensive care unit admission state (OR 14.03, p<0.001), and concomitant electrophysiological study during procedure (OR 3.41, p=0.016) significantly increased severe complication risk. CONCLUSION: Currently, the use of cardiac catheterization in SHD is increasing and becoming more complex; this could cause complications despite the preventive efforts. Careful patient selection for therapeutic catheterization and improved technique and management during the peri-procedural period are required to reduce complications.

Dilemmas of Korean Athletes With a Spinal Cord Injury to Participate in Sports: A Survey Based on the ICF Core Set for Spinal Cord Injury

OBJECTIVE: To explore the experiences of athletes with spinal cord injury (SCI) in Korea with respect to dilemmas of participating in sports with regards to the facilitators and barriers, using the International Classification of Functioning, Disability and Health (ICF). METHODS: The facilitators and barriers to sports participation of individuals with SCI were examined using 112 ICF categories. A questionnaire in dichotomous scale was answered, which covered the subjects 'Body functions', 'Body structures', 'Activity and participation' and 'Environmental factors'. Data analysis included the use of descriptive statistics to examine the frequency and magnitude of reported issues. RESULTS: Sixty-two community-dwelling participants were recruited. Frequently addressed barriers in 'Body functions' were mobility related problems such as muscle and joint problems, bladder and bowel functions, pressure ulcers, and pain. In 'Activity and participation', most frequently reported were mobility and self-care problems. Highly addressed barriers in 'Environmental factors' were sports facilities, financial cost, transportation problems and lack of information. Relationships such as peer, family and friends were the most important facilitators. CONCLUSION: Numerous barriers still exist for SCI survivors to participate in sports, especially in the area of health care needs and environmental factors. Our results support the need for a multidisciplinary approach to promote sports participation.

Usefulness of Submental Ultrasonographic Evaluation for Dysphagia Patients

OBJECTIVE: To investigate the usefulness of ultrasonographic measurement of hyoid bone movement during swallowing. METHODS: Fifty-two patients who had swallowing dysfunction were enrolled in this study. When a patient swallowed 5 mL of water while maintaining an upright sitting position, hyoid bone movement during swallowing was measured with ultrasonography. Recorded images were analyzed to measure the maximum change in hyoid bone displacement. Mandible was used as reference point to calculate hyoid bone displacement. The farthest distance from resting position and the nearest distance during swallowing were measured and their differences were recorded. Participants also underwent videofluoroscopic swallowing study (VFSS). Based on penetration-aspiration scale (PAS), they were grouped to non-aspirators (PAS 1), penetrators (PAS 2-5), or aspirators (PAS 6-8). Measured hyoid bone displacements by submental ultrasonography were compared among groups. RESULTS: The mean hyoid bone displacement in non-aspirators group (n=21, 15.9±2.7 mm) was significantly (p<0.05) greater than that in penetrators group (n=20, 11.5±2.8 mm) or aspirators group (n=11, 8.0±1.0 mm). Hyoid bone displacement below 13.5 mm as a cutoff point for detecting penetration or aspiration had a sensitivity and specificity of 83.9% and 81.0%, respectively. CONCLUSION: Submental ultrasonographic evaluation was well correlated with PAS measured by VFSS. Therefore, submental ultrasonographic evaluation could be a useful screening tool for dysphagic patients.

Infantile Marfan syndrome in a Korean tertiary referral center / 소아과

PURPOSE: Infantile Marfan syndrome (MFS) is a rare congenital inheritable connective tissue disorder with poor prognosis. This study aimed to evaluate the cardiovascular manifestations and overall prognosis of infantile MFS diagnosed in a tertiary referral center in Korea. METHODS: Eight patients diagnosed with infantile MFS between 2004 and 2014 were retrospectively evaluated. RESULTS: Their median age at the time of diagnosis was 2.5 months (range, 0-20 months). The median follow-up period was 25.5 months (range, 0-94 months). The median length at birth was 50.0 cm (range, 48-53 cm); however, height became more prominent over time, and the patients were taller than the 97th percentile at the time of the study. None of the patients had any relevant family history. Four of the 5 patients who underwent DNA sequencing had a fibrillin 1 gene mutation. All the patients with echocardiographic data of the aortic root had a z score of >2. All had mitral and tricuspid valve prolapse, and various degrees of mitral and tricuspid regurgitation. Five patients underwent open-heart surgery, including mitral valve replacement, of whom two required multiple operations. The median age at mitral valve replacement was 28.5 months (range, 5-69 months). Seven patients showed congestive heart failure before surgery or during follow-up, and required multiple anti-heart failure medications. Four patients died of heart failure at a median age of 12 months. CONCLUSION: The prognosis of infantile MFS is poor; thus, early diagnosis and timely cautious treatment are essential to prevent further morbidity and mortality.

Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies, and endocrine and eye abnormalities can accompany TBS, although less frequently. TBS is inherited in an autosomal dominant fashion; however, about 50% of patients have a family history of TBS and the remaining 50% have de novo mutations. SALL1, located on chromosome 16q12.1, is the only causative gene of TBS. SALL1 acts as a transcription factor and may play an important role in inducing the anomalies during embryogenesis. Clinical features of TBS overlap with those of other multiple anomaly syndromes, such as VACTERL syndrome, Baller-Gerold syndrome, Goldenhar syndrome, cat eye syndrome, and Holt-Oram syndrome. Consequently, there are some difficulties in differential diagnosis based on clinical manifestations. Herein, we report a Korean family with two generations of TBS that was diagnosed based on physical examination findings and medical history. Although the same mutation in SALL1 was identified in both the mother and the son, they displayed different clinical manifestations, suggesting a phenotypic diversity of TBS.

Evaluation of Timeliness of Palivizumab Immunoprophylaxis Based on the Epidemic Period of Respiratory Syncytial Virus: 22 Year Experience in a Single Center

PURPOSE: This study aimed to analyze the epidemic period of RSV infection and evaluate the appropriate time of palivizumab immunoprophylaxis. METHODS: From January 1991 to July 2012, nasopharyngeal (NP) aspirates were obtained from patients who visited Seoul National University Children's Hospital for respiratory symptoms. NP samples were used to detect respiratory viruses. Among them, we analyzed the positive number and detection rate of RSV infection in two-week interval. The beginning of RSV season was defined when RSV positive number was more than 4 and RSV detection rate was over 10%. From January 2007 to March 2014, we analyzed the starting time of palivizumab immunoprophylaxis for the infants at high risk. RESULTS: The RSV detection rate was 2,013/21,698 (9.69%) over 22 years. The median RSV season was from 2nd-3rd week of October to 1st- 2nd week of February. The earliest starting week was the 3rd week of July in year 2001, and the latest end week was the 3rd week of May in year 1990. Palivizumab immunoprophylaxis was initiated most frequently at the 3rd week of October (18.7%). However, the percentage of starting palivizumab on the 1st week of September has increased from 3.8% in the year 2007 to 14.1% in 2013. CONCLUSIONS: The year to year variability of RSV season exists. The starting time of palivizumab immunoprophylaxis should be adjusted based on the season of RSV epidemic.

Participation in Leisure Activity and Exercise of Chronic Stroke Survivors Using Community-Based Rehabilitation Services in Seongnam City

OBJECTIVE: To clarify how participation in leisure activities and exercise by chronic stroke survivors differs before and after a stroke. METHODS: Sixty chronic stroke survivors receiving community-based rehabilitation services from a health center in Seongnam City were recruited. They completed a questionnaire survey regarding their demographic characteristics and accompanying diseases, and on the status of their leisure activities and exercise. In addition, their level of function (Korean version of Modified Barthel Index score), risk of depression (Beck Depression Inventory), and quality of life (SF-8) were measured. RESULTS: After their stroke, most of the respondents had not returned to their pre-stroke levels of leisure activity participation. The reported number of leisure activities declined from a mean of 3.9 activities before stroke to 1.9 activities post-stroke. In addition, many participants became home-bound, sedentary, and non-social after their stroke. The most common barriers to participation in leisure activities were weakness and poor balance, lack of transportation, and cost. The respondents reported a mean daily time spent on exercise of 2.6+/-1.3 hours. Pain was the most common barrier to exercise participation. CONCLUSION: Chronic stroke survivors need information on leisure activities and appropriate pain management.

Acute Bacterial Meningitis Caused by Neisseria cinerea / 이화의대지

Neisseria cinerea is an oropharyngeal normal flora known as a non-pathogenic gram-negative diplococcus. Encephalo-meningitis related to N. cinerea is very rare. A 15-year-old healthy male visited emergency room for altered mentality with fever, headache, and vomiting. Physical examination showed abdominal tenderness and neck stiffness but there was no skin rash. Cerebrospinal fluid (CSF) examination revealed opening pressure of 210 mmH2O, red blood cell 200/mm3, white blood cell 8,320/mm3, neutrophil 84%, glucose 34 mg/dL, suggesting acute bacterial meningitis. Empirical antibiotics were administered and N. cinerea was identified in CSF culture. The patient showed complete recovery 10 days after administration of ceftriaxone. We report this case as the first N. cinerea meningitis in Korea.