Minor alleles in the FTO SNPs contributed to the increased risk of obesity among Korean adults: meta-analysis from nationwide big data-based studies

BACKGROUND/OBJECTIVES@#Many studies have revealed an association between fat mass and the obesity-related gene (FTO) and obesity. On the other hand, no meta-analysis was conducted with data from only Koreans. Therefore, this study performed a meta-analysis using Korean data to provide evidence for the association between FTO single nucleotide polymorphisms (SNPs) and the risk of obesity among Korean adults.SUBJECT/METHODS: Meta-analysis was finally conducted with data extracted from seven datasets of four studies performed on Korean adults after the screening passed. Five kinds of FTO SNPs (rs9939609, rs7193144, rs9940128, rs8050136, and rs9926289) were included, and the relationship between FTO SNPs and body mass index (BMI) was investigated using linear regression with an additive model adjusted for covariants, such as age, sex, and area. @*RESULTS@#The minor alleles of FTO SNPs were associated with increased BMI (odds ratio [OR], 1.31; 95% confidence interval [CI], 1.21–1.42). In sub-group analysis, FTO rs9939609 T>A was significantly associated with BMI (OR, 1.23; 95% CI, 1.06–1.42). The other FTO SNPs together were significantly associated with BMI (OR, 1.37; 95% CI, 1.25–1.49). The publication bias was not observed based on Egger’s test. @*CONCLUSIONS@#This meta-analysis showed that minor alleles in the FTO SNPs were significantly associated with an increased BMI among Korean adults. This meta-analysis is the first to demonstrate that minor alleles in the FTO SNPs contribute significantly to the increased risk of obesity among Korean adults using data from a Korean population.

Changes in body composition, body balance, metabolic parameters and eating behavior among overweight and obese women due to adherence to the Pilates exercise program / 한국영양학회지

Purpose@#We examined the effects of the 8-week moderate-intensity Pilates exercise program on body composition, balance ability, metabolic parameters, arterial condition, and eating habits among overweight and obese women. @*Methods@#From the general sample of overweight or obese Korean women (body mass index ≥ 23 kg/m2 ), those who had not been diagnosed with any chronic degenerative diseases were enrolled in the study (n = 39). After 8 weeks of the Pilates exercise program, the participants were subdivided into adherence and non-adherence groups. Among the study participants, 24 women were matched for age and menopausal status to reduce the bias, and then finally included for the comparison (Pilates-adherence, n = 12; Pilates-non-adherence, n = 12). @*Results@#The body balance measured by the Y-balance test, body mass index, and subcutaneous fat areas were significantly improved in both groups. However, the Pilatesadherence group showed more positive changes in body balance and had significant improvement in body composition parameters such as waist size, visceral fat area, systolic blood pressure, arterial aging index, fasting blood glucose, and glycated hemoglobin than the Pilates-non-adherence group. In addition, the nutrition quotient for Korean adults (balance,moderation, and behavior except diversity) were significantly improved in both groups after dietary education. However, the participants did not show dramatic improvement in the metabolic parameters, because all the study subjects were in relatively good health and did not have any diagnosed diseases. @*Conclusion@#This study demonstrated that higher adherence to the Pilates exercise program together with a modification of eating habits may effectively improve body balance, body composition, and obesity-related parameters among overweight and obese women.

Outcomes and Biomarkers of Immune Checkpoint Inhibitor Therapy in Patients with Refractory Head and Neck Squamous Cell Carcinoma: KCSG HN18-12 / Journal of the Korean Cancer Association, 대한암학회지

Purpose@#This study was conducted to determine the effectiveness of immune checkpoint inhibitors (ICIs) in recurrent or metastatic head and neck squamous cell carcinoma (R/M HNSCC) after platinum-containing chemotherapy. We also identified clinical biomarkers which may be predictive of patient prognosis. @*Materials and Methods@#We analyzed 125 patients with R/M HNSCC who received ICIs, retrospectively. Overall response rate (ORR) was the primary study outcome. Overall survival (OS) and progression-free survival (PFS) were the secondary study outcomes. @*Results@#The patients received anti–programmed cell death protein-1 (PD-1) (n=73, 58%), anti–programmed death-ligand 1 (PD-L1) (n=24, 19%), or a combination of anti–PD-1/PD-L1 and anti–cytotoxic T-lymphocyte antigen 4 (n=28, 22%). The median age was 57 years (range, 37 to 87). The location of the primary tumor was in the oral cavity in 28% of the cases, followed by oropharynx (27%), hypopharynx (20%), and larynx (12%). The ORR was 15% (19/125). With 12.3 months of median follow-up, median PFS was 2.7 months. Median OS was 10.8 months. A neutrophil-to-lymphocyte ratio (NLR) > 4 was significantly associated with poor response to ICIs (odds ratio, 0.30; p=0.022). A sum of the target lesions > 40 mm (hazard ratio [HR], 1.53; p=0.046] and a NLR > 4 (HR, 1.75; p=0.009) were considered to be predictive markers of short PFS. A poor performance status (HR, 4.79; p 40 mm (HR, 1.93; p=0.025), and an NLR > 4 (HR, 3.36; p < 0.001) were the significant predictors for poor survival. @*Conclusion@#ICIs exhibited favorable antitumor activity in R/M HNSCC. Clinically, our findings can be used to recognize patients benefit from receiving ICI.

Outcomes and Biomarkers of Immune Checkpoint Inhibitor Therapy in Patients with Refractory Head and Neck Squamous Cell Carcinoma: KCSG HN18-12 / Journal of the Korean Cancer Association, 대한암학회지

Purpose@#This study was conducted to determine the effectiveness of immune checkpoint inhibitors (ICIs) in recurrent or metastatic head and neck squamous cell carcinoma (R/M HNSCC) after platinum-containing chemotherapy. We also identified clinical biomarkers which may be predictive of patient prognosis. @*Materials and Methods@#We analyzed 125 patients with R/M HNSCC who received ICIs, retrospectively. Overall response rate (ORR) was the primary study outcome. Overall survival (OS) and progression-free survival (PFS) were the secondary study outcomes. @*Results@#The patients received anti–programmed cell death protein-1 (PD-1) (n=73, 58%), anti–programmed death-ligand 1 (PD-L1) (n=24, 19%), or a combination of anti–PD-1/PD-L1 and anti–cytotoxic T-lymphocyte antigen 4 (n=28, 22%). The median age was 57 years (range, 37 to 87). The location of the primary tumor was in the oral cavity in 28% of the cases, followed by oropharynx (27%), hypopharynx (20%), and larynx (12%). The ORR was 15% (19/125). With 12.3 months of median follow-up, median PFS was 2.7 months. Median OS was 10.8 months. A neutrophil-to-lymphocyte ratio (NLR) > 4 was significantly associated with poor response to ICIs (odds ratio, 0.30; p=0.022). A sum of the target lesions > 40 mm (hazard ratio [HR], 1.53; p=0.046] and a NLR > 4 (HR, 1.75; p=0.009) were considered to be predictive markers of short PFS. A poor performance status (HR, 4.79; p 40 mm (HR, 1.93; p=0.025), and an NLR > 4 (HR, 3.36; p < 0.001) were the significant predictors for poor survival. @*Conclusion@#ICIs exhibited favorable antitumor activity in R/M HNSCC. Clinically, our findings can be used to recognize patients benefit from receiving ICI.

Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency

Freeman-Sheldon syndrome (FSS) is a rare distal arthrogryposis syndrome. There are few reports on the respiratory insufficiency of FSS. Additionally, there is no detailed information on pulmonary functional evaluation. A 17-year-old male patient with FSS developed respiratory failure, leading him to be admitted to hospital several times for evaluation and treatment. Of those times he was admitted, two were due to pneumonia. His pulmonary functions were indicative of a restrictive lung disease potentially caused by severe scoliosis. After a non-invasive ventilatorwas applied correctly to the patient, pulmonary hypertension was normalized. His pulmonary function has been maintained for 13 years. Since receiving proper respiratory care, which includes assisted coughing methods, the patient has not developed pneumonia. It is important to properly evaluate the pulmonary function of patients who have FSS and scoliosis to eliminate the risk of long-term respiratory complications.

Diagnostic Usefulness of Digital Infrared Thermal Image in Carpal Tunnel Syndrome

OBJECTIVE: The purpose of this study is to evaluate the usefulness of infrared thermography in patients with carpal tunnel syndrome by comparing with electrodiagnostic and ultrasonographic findings.METHOD: From January 2014 to October 2017, electrodiagnosis, ultrasound, and digital infrared thermal image (DITI) of unilateral carpal tunnel syndrome diagnosed in a single hospital were retrospectively analyzed. The subjects with bilateral symptoms of carpal tunnel syndrome, peripheral vascular disease, diabetes, thyroid disease, fibromyalgia, rheumatic disease, systemic infection, inflammation, malignant tumor, and other musculoskeletal disorders such as finger osteoarthritis, peripheral neuropathy, cervical radiculopathy, and the previous history of surgery were excluded.RESULTS: Of 53 patients diagnosed with carpal tunnel syndrome, 11 were male and 42 were female. The visual analogue scale was 4.9 ± 1.9, and the duration of symptom was 11.8 ± 12.5 months. There was no statistically significant difference in the body surface temperature between the unaffected and affected sides. The severity of symptoms, electrodiagnostic findings, and cross-sectional area of the median nerve significantly correlates to each other. The temperature difference between the second fingers of the affected and unaffected sides showed a weak correlation with the amplitude of sensory nerve action potential and onset latency of compound muscle action potential, when there was no significant correlation with the other parameters.CONCLUSION: The difference in temperature on the surface of the body, which can be confirmed by DITI, is little diagnostic value when DITI is performed in unilateral carpal tunnel syndrome patients, especially when compared with ultrasonography.

A Case of Transient Myeloproliferative Disorder Associated with Clonal Trisomy 21 in a Chromosomally Normal Newborn / 임상소아혈액종양

Transient myeloproliferative disorder (TMD) is similar to congenital leukemia, with leukocytosis, increased peripheral blast cells, and hepatomegaly in the neonatal period. Although TMD occurs only in patients with Down syndrome and trisomy 21 mosaicism, there have been reports of congenital leukemia with trisomy 21 limited to hematopoietic cells showing spontaneous resolution. We identified trisomy 21 in the leukemic cells in a patient with congenital leukemia. As there was no other gene abnormality, we stopped chemotherapy, and the disease resolved spontaneously. We reviewed the cases of clonal trisomy 21 TMD and found that their clinical features were similar to those of TDM associated with Down syndrome. In conclusion, in a phenotypically normal patient with suspected congenital leukemia, it is necessary to confirm the presence of 21 trisomy. If the neonate has only trisomy 21 without other gene abnormalities, intensive chemotherapy may not be required.

Improvement of Peak Cough Flow After the Application of a Mechanical In-exsufflator in Patients With Neuromuscular Disease and Pneumonia: A Pilot Study

OBJECTIVE: To investigate and demonstrate persistent increase of peak cough flow after mechanical in-exsufflator application, in patients with neuromuscular diseases and pneumonia. METHODS: A mechanical in-exsufflator was applied with patients in an upright or semi-upright sitting position (pressure setting, +40 and −40 cmH2O; in-exsufflation times, 2–3 and 1–2 seconds, respectively). Patients underwent five cycles, with 20–30 second intervals to prevent hyperventilation. Peak cough flow without and with assistive maneuvers, was evaluated before, and 15 and 45 minutes after mechanical in-exsufflator application. RESULTS: Peak cough flow was 92.6 L/min at baseline, and 100.4 and 100.7 L/min at 15 and 45 minutes after mechanical in-exsufflator application, respectively. Assisted peak cough flow at baseline, 15 minutes, and 45 minutes after mechanical in-exsufflator application was 170.7, 179.3, and 184.1 L/min, respectively. While peak cough flow and assisted peak cough flow increased significantly at 15 minutes after mechanical in-exsufflator application compared with baseline (p=0.030 and p=0.016), no statistical difference was observed between 15 and 45 minutes. CONCLUSION: Increased peak cough flow after mechanical in-exsufflator application persists for at least 45 minutes.

The Predictive Values of Lesion Size, F-18 FDG Avidity and I-131 Avidity for the Clinical Outcome of I-131 Treatment in Patients with Metastatic Differentiated Thyroid Carcinoma Only in the Lung / 대한핵의학회잡지

PURPOSE: We aimed to evaluate the prognostic values of radiography, F-18 FDG PET, and I-131 whole body scans in patients with lung-only metastasis from differentiated thyroid carcinoma (DTC).METHODS: Between 1998 and 2013, we included 31 patients (F: 26, M: 5) with lung-only metastasis from DTC who had been treated with I-131 and underwent PET. Lung metastasis was categorized according to the size (macronodular ≥1.0 cm vs. micronodular <1.0 cm), FDG avidity (avid vs. non-avid), and I-131 avidity (avid vs. non-avid). Progression-free survival (PFS) was evaluated for each patient.RESULTS: Among 31 patients, seven (23%) had macronodular lung metastasis, 26 (84%) had FDG avid lung metastasis, and 16 (52%) had I-131 avid lung metastasis. During the median follow-up period of 9.4 y, median PFS was 6.1 y. Based on Kaplan-Meier analysis, macronodular lung metastasis (p = 0.017) and I-131 non-avid lung metastasis (p = 0.059) were significantly associated with worse outcomes, but FDG avid lung metastasis was not (p = 0.135). Patients with FDG non-avid lung metastasis did not experience disease progression during follow-up, while 11 of 26 patients (42%) experienced disease progression. Based on univariate analysis, the hazard ratio for a poor prognosis was 3.78 (p = 0.029) for macronodular lung metastasis and 3.29 (p = 0.079) for I-131 non-avid lung metastasis.CONCLUSIONS: Macronodular and I-131 non-avid lung metastasis were associated with a poor prognosis in lung-only metastasis from DTC. Although FDG avid lung metastasis may be associated with a poor prognosis, a larger-scale study is needed.

The Predictive Values of Lesion Size, F-18 FDG Avidity and I-131 Avidity for the Clinical Outcome of I-131 Treatment in Patients with Metastatic Differentiated Thyroid Carcinoma Only in the Lung / 대한핵의학회잡지

PURPOSE@#We aimed to evaluate the prognostic values of radiography, F-18 FDG PET, and I-131 whole body scans in patients with lung-only metastasis from differentiated thyroid carcinoma (DTC).@*METHODS@#Between 1998 and 2013, we included 31 patients (F: 26, M: 5) with lung-only metastasis from DTC who had been treated with I-131 and underwent PET. Lung metastasis was categorized according to the size (macronodular ≥1.0 cm vs. micronodular <1.0 cm), FDG avidity (avid vs. non-avid), and I-131 avidity (avid vs. non-avid). Progression-free survival (PFS) was evaluated for each patient.@*RESULTS@#Among 31 patients, seven (23%) had macronodular lung metastasis, 26 (84%) had FDG avid lung metastasis, and 16 (52%) had I-131 avid lung metastasis. During the median follow-up period of 9.4 y, median PFS was 6.1 y. Based on Kaplan-Meier analysis, macronodular lung metastasis (p = 0.017) and I-131 non-avid lung metastasis (p = 0.059) were significantly associated with worse outcomes, but FDG avid lung metastasis was not (p = 0.135). Patients with FDG non-avid lung metastasis did not experience disease progression during follow-up, while 11 of 26 patients (42%) experienced disease progression. Based on univariate analysis, the hazard ratio for a poor prognosis was 3.78 (p = 0.029) for macronodular lung metastasis and 3.29 (p = 0.079) for I-131 non-avid lung metastasis.@*CONCLUSIONS@#Macronodular and I-131 non-avid lung metastasis were associated with a poor prognosis in lung-only metastasis from DTC. Although FDG avid lung metastasis may be associated with a poor prognosis, a larger-scale study is needed.

Predicting Factor of Visual Outcome in Unilateral Idiopathic Cataract Surgery in Patients Aged 3 to 10 Years

PURPOSE: To report the surgical results of unilateral pediatric cataracts from uncertain causes in relatively older children and to identify factors related to better visual outcomes. METHODS: We retrospectively evaluated the medical records of 39 patients who underwent surgery between the ages of 3 and 10 years for unilateral pediatric cataracts of no known cause. All patients underwent primary intraocular lens implantation and postoperative amblyopia treatment. A postoperative final visual acuity better than 20 / 30 was considered to be a good visual outcome. RESULTS: The mean age of patients was 6.0 ± 1.8 years at the time of surgery. The mean preoperative visual acuity was 1.07 ± 0.71 logarithm of the minimum angle of resolution (range, 0.15 to 3.00), while the mean final postoperative visual acuity was 0.47 ± 0.54 logarithm of the minimum angle of resolution (range, 0.00 to 2.00). Of 39 patients, 18 (46.2%) achieved a good visual outcome. Only the preoperative visual acuity maintained a significant association with a good visual outcome according to our multivariate analysis (p = 0.040). A preoperative visual acuity of 20 / 100 or better was found to increase the chance of achieving a good visual outcome by 13.79-fold (95% confidence interval, 1.13 to 167.58). CONCLUSIONS: The visual outcome of unilateral pediatric cataract surgery for cataracts with no specific cause identified in patients after three years of age could be satisfactory, especially with a preoperative visual acuity of 20 / 100 or better.

Long-Term Outcome of Amyotrophic Lateral Sclerosis in Korean Subjects

OBJECTIVE: To report the latest long-term outcome of amyotrophic lateral sclerosis (ALS) and to analyze the predictors of prognosis. METHODS: Subjects who were diagnosed with ALS between January 2005 and December 2009 at a single institute were followed up until death or up to December 2014. Data regarding age, sex, date of onset, date of diagnosis, presence of bulbar symptoms on onset, date of initiation of non-invasive ventilation (NIV), and the date of tracheostomy were collected. Survival was assessed using Kaplan-Meier curves and multivariate analyses of the risk of death were performed using the Cox proportional hazards model. RESULTS: Among 212 suspicious subjects, definite ALS was diagnosed in 182 subjects. The survival rate at 3 and 5 years from onset was 61.5% and 40.1%, respectively, and the survival rate at 3 and 5 years post-diagnosis was 49.5% and 24.2%, respectively. Further, 134 patients (134/182, 73.6%) were initiated on NIV, and among them, 90 patients (90/182, 49.5%) underwent tracheostomy. Male gender and onset age of ≥65 years were independent predictors of adverse survival. CONCLUSION: The analysis of long term survival in ALS showed excellent outcomes considering the overall poor prognosis of this disease.

A De-identification Method for Bilingual Clinical Texts of Various Note Types

De-identification of personal health information is essential in order not to require written patient informed consent. Previous de-identification methods were proposed using natural language processing technology in order to remove the identifiers in clinical narrative text, although these methods only focused on narrative text written in English. In this study, we propose a regular expression-based de-identification method used to address bilingual clinical records written in Korean and English. To develop and validate regular expression rules, we obtained training and validation datasets composed of 6,039 clinical notes of 20 types and 5,000 notes of 33 types, respectively. Fifteen regular expression rules were constructed using the development dataset and those rules achieved 99.87% precision and 96.25% recall for the validation dataset. Our de-identification method successfully removed the identifiers in diverse types of bilingual clinical narrative texts. This method will thus assist physicians to more easily perform retrospective research.

Native valve endocarditis due to extended spectrum beta-lactamase producing Klebsiella pneumoniae

No abstract available.

Correction: Lessons Learned from Development of De-identification System for Biomedical Research in a Korean Tertiary Hospital / 대한의료정보학회지

We have noticed an inadvertent error in our article. In Figure 1, an abbreviation is misspelled.

Lessons Learned from Development of De-identification System for Biomedical Research in a Korean Tertiary Hospital / 대한의료정보학회지

OBJECTIVES: The Korean government has enacted two laws, namely, the Personal Information Protection Act and the Bioethics and Safety Act to prevent the unauthorized use of medical information. To protect patients' privacy by complying with governmental regulations and improve the convenience of research, Asan Medical Center has been developing a de-identification system for biomedical research. METHODS: We reviewed Korean regulations to define the scope of the de-identification methods and well-known previous biomedical research platforms to extract the functionalities of the systems. Based on these review results, we implemented necessary programs based on the Asan Medical Center Information System framework which was built using the Microsoft. NET Framework and C#. RESULTS: The developed de-identification system comprises three main components: a de-identification tool, a search tool, and a chart review tool. The de-identification tool can substitute a randomly assigned research ID for a hospital patient ID, remove the identifiers in the structured format, and mask them in the unstructured format, i.e., texts. This tool achieved 98.14% precision and 97.39% recall for 6,520 clinical notes. The search tool can find the number of patients which satisfies given search criteria. The chart review tool can provide de-identified patient's clinical data for review purposes. CONCLUSIONS: We found that a clinical data warehouse was essential for successful implementation of the de-identification system, and this system should be tightly linked to an electronic Institutional Review Board system for easy operation of honest brokers. Additionally, we found that a secure cloud environment could be adopted to protect patients' privacy more thoroughly.

Factors Affecting the Outcome of Silicone Intubation for Congenital Nasolacrimal Duct Obstruction

PURPOSE: To determine the factors affecting the outcome of silicone intubation for congenital nasolacrimal duct obstruction. METHODS: A total of 233 eyes of 200 children that received silicone intubation were enrolled in a retrospective study. RESULTS: The overall success of silicone intubation was 193 of 233 eyes (82.8%). There was no significant difference in success rate between age groups. Tube retention time did not affect the success rates. Immediate tube dislocation as early as within 2 weeks did not lower the success rates (81.5%). Success rates were significantly lowered by persistent epiphora at the point of tube removal (p < 0.001). CONCLUSIONS: The outcome of silicone intubation is determined by symptomatic improvement, which is not affected by tube retention time. Unplanned early tube dislocation may not affect the outcome of silicone intubation unless symptoms are persistent, and sufficient tube retention time does not ensure the success if symptoms are persistent.

Comparison of Electroretinogram Waveforms Acquired Using Monopolar ERG-Jet Electrode and Bipolar Burian-Allen Electrode

PURPOSE: To compare electroretinogram (ERG) waveforms acquired using an ERG-jet electrode and a Burian-Allen electrode. METHODS: ERGs were recorded with an ERG-jet electrode and a Burian-Allen electrode from both eyes of 29 volunteers. Three consecutive recordings were obtained with both electrodes from the left eye of another 6 volunteers. Peak-to-trough amplitudes and peak implicit times were compared between both eyes, and between the 2 types of electrodes. Interpersonal and intrapersonal variation were also compared. RESULTS: The differences in amplitude and implicit time between the right and left eyes were not influenced by the type of electrode. The amplitude of the ERG acquired using the Burian-Allen electrode, however, showed significant differences between both eyes, contrary to the amplitude acquired using the ERG-jet electrode. ERG recordings obtained using the ERG-jet electrode generally showed higher amplitude, shorter implicit time, and less interpersonal and intrapersonal variation than ERG recordings obtained using the Burian-Allen electrode. CONCLUSIONS: In this application, the ERG-jet ERG electrode appeared to be superior to the Burian-Allen electrode in terms of both usefulness and consistency.

Cytomegalovirus as a Cause of Recurrent Anterior Uveitis in Immunocompetent Patients

PURPOSE: This study aimed to identify various infectious causes in unilateral recurrent hypertensive anterior uveitis in immunocompetent individuals. METHODS: Twenty eyes of 20 patients diagnosed with recurrent hypertensive anterior uveitis, who had negative systemic uveitis lab results, were enrolled. Polymerase chain reaction (PCR) was performed in the aqueous humor and peripheral blood specimens to detect the following infectious agents: cytomegalovirus (CMV), herpes simplex virus-1 (HSV-1), varicella zoster virus (VZV), toxoplasma. RESULTS: The mean age of 20 patients was 41.8 +/- 15.9 year (19-77 year), and 14 (70%) patients were male. CMV was positive in 7 eyes (35%) and was detected only in aqueous humor. HSV-1 was positive in 5 (25%) eyes; only in aqueous humor in 2 eyes, only in blood in 1 eye, and in both specimens in 2 eyes. Only 1 (5%) eye was positive for toxoplasma in the aqueous humor. CONCLUSIONS: This study demonstrated that CMV might be another major infectious cause in recurrent hypertensive anterior uveitis in immunocompetent patients. If CMV is detected, it might be reasonable to add appropriate antiviral agents, rather than treating only with immunosuppresive and hypotensive drugs.