PURPOSE: Myotonic dystrophy, also known as dystrophia myotonica (DM), is an autosomal dominant disorder with 2 genetically distinct forms. DM type 1 (DM1) is the more common form and is caused by abnormal expansion of cytosine/thymine/guanine (CTG) repeats in the DM protein kinase (DMPK) gene. Our study aimed to determine whether the age of onset is correlated with CTG repeat length in a population of pediatric patients with DM1. METHODS: We retrospectively identified 30 pediatric patients with DM1 that underwent DMPK testing, of which the clinical data of 17 was sufficient. The cohort was divided into 2 subgroups based on the clinical phenotype (congenital-onset vs. late-onset) and number of CTG repeats ( < 1,000 vs. ≥1,000). RESULTS: We found no significant difference between the age of onset and CTG repeat length in our pediatric patient population. Based on clinical subgrouping, we found that the congenital-onset subgroup was statistically different with respect to several variables, including prematurity, rate of admission to neonatal intensive care unit, need for respiratory support at birth, hypotonia, dysphagia, ventilator dependence, and functional status on last visit, compared to the late-onset subgroup. Based on genetic subgrouping, we found a single variable (poor feeding in neonate) that was significantly different in the large CTG subgroup than that in the small CTG subgroup. CONCLUSION: Clinical variables exhibiting statistically significant differences between the subgroups should be focused on prognosis and designing tailored management approaches for the patients; our findings will contribute to achieve this important goal for treating patients with DM1.
Age of Onset ; Cohort Studies ; Deglutition Disorders ; Genetic Association Studies ; Genotype ; Humans ; Infant, Newborn ; Intensive Care, Neonatal ; Muscle Hypotonia ; Myotonic Dystrophy ; Myotonin-Protein Kinase ; Parturition ; Phenotype ; Prognosis ; Retrospective Studies ; Ventilators, Mechanical

BACKGROUND AND OBJECTIVES: The agreement between pure-tone average (PTA) and speech recognition threshold (SRT) has become more important with the increasing demands for medical certification. The purpose of this study was to explore the relationships between the SRT and several variations of PTA, and to determine which PTA formula would provide the best agreement with SRT for different audiometric configurations. SUBJECTS AND METHOD: Audiological data on 783 ears were retrospectively collected. The air-conduction PTAs were calculated using five different formulas: three-frequency average (3FA), weighted three-frequency average (W3FA), four-frequency average (4FA), weighted four-frequency average (W4FA), and six-frequency average (6FA). The audiometric configuration was classified into five categories. The PTA-SRT relationships were analyzed using correlation and simple linear regression for each audiometric configuration. RESULTS: Highest correlation was observed between the SRT and W3FA for all audiometric configurations with the correlation coefficient of 0.964 as a whole. The SRT and 3FA were best-matched in the linear regression models for overall/flat/high frequency gently sloping/low frequency ascending; the SRT and W3FA were best-matched for high frequency steeply sloping (HFSS); the SRT and 4FA were best-matched for miscellaneous audiograms. CONCLUSION: The most stable PTA variations that make the best-matched pairs with SRT for any audiogram are the conventional 3FA and W3FA doubling 1 kHz threshold. The addition of frequencies higher than 2 kHz to a PTA formula seems to have impeded the PTA-SRT agreement, especially for HFSS audiograms. W3FA should be the method of choice in predicting SRT from PTA for HFSS audiograms.
Certification ; Ear ; Hearing Loss, Functional ; Linear Models ; Methods ; Retrospective Studies

OBJECTIVES: The purpose of this study was to make empirical evidence for a community based case management program for the first episode of psychosis. METHODS: We provided a case management program for first episode psychosis patients and assessed their symptoms, function, insight, and satisfaction using Positive and Negative Syndrome Scale (PANSS), the Health of Nation Outcomes Scales (HoNOS), Scale to assess Unawareness of Mental Disorder (SUMD), Global Assessment of Functioning Scales (GAF), and Quality of Life scales (QOL) at baseline and after the program. We also evaluated the treatment maintenance rate and the changes of their developmental task achievement. RESULTS: Significant improvement was observed in all sub-domains of PANSS and significant changes were also observed in the areas of symptoms and function of HoNOS. Significant improvement was observed in awareness of mental illness itself and its outcomes. The treatment maintenance rate was 87.5%, including three patients who stopped their medication with the doctor's order. The rate of participation in meaningful social activities, such as school or job showed an increase, from 25% at baseline to 81% after the program. CONCLUSION: Results of this study demonstrate the possibility of community programs for prevention of relapse, improvement of symptoms and function, and facilitation of return to meaningful social activities of first episode psychosis patients.
Case Management ; Humans ; Mental Disorders ; Psychotic Disorders ; Quality of Life ; Recurrence ; Weights and Measures

BACKGROUND: Atopic dermatitis (AD) is a chronic or chronically relapsing, inflammatory, pruritic skin disease. Because tacrolimus ointment does not induce skin atrophy, it is especially indicated in delicate areas such as the face, intertriginous areas and anogenital region. OBJECTIVE: With the aim of investigating the differences between the established clinical guidelines and actual treatment response, an open-label, non-comparative, multicenter clinical observational study was undertaken. METHODS: One hundred and fifty-three patients with AD in the head and neck area were treated with topical tacrolimus 0.1% twice daily. Clinical evaluations were conducted at baseline, week 4 and week 8. Efficacy was assessed through the investigator's evaluation of the patients' individual signs (erythema, edema, oozing, excoriation, scaling, lichenification and fissuring) and symptoms (burning, pruritus and telangiectasia) using a 4-point grading system. The physician's and patient's global assessments and quality of sleep were also evaluated. RESULTS: Among 153 enrolled patients, 25 (16.3%) were lost to follow-up, and 6 (3.9%) dropped out due to adverse events, leaving 79.7% of the population who completed the trial. Head and neck dermatitis was improved or cleared in 93.6% (week 4) and 94.4% (week 8) by physicians and in 92.1% (week 4) and 90.8% (week 8) by patients. Tacrolimus treatment improved the quality of sleep in head and neck dermatitis patients. Eighty-seven percent of the subjects were compliant, applying it at least 3 days per week. Burning sensation was the most frequently reported adverse event, followed by pruritus and aggravation of the lesion. CONCLUSION: Tacrolimus ointment 0.1% is a safe and effective treatment option for atopic dermatitis of head and neck including eyelids.
Atrophy ; Burns ; Dermatitis ; Dermatitis, Atopic* ; Edema ; Eyelids ; Head* ; Humans ; Lost to Follow-Up ; Neck* ; Pruritus ; Sensation ; Skin ; Skin Diseases ; Tacrolimus*

PURPOSE: To evaluate the diagnostic accuracy of real-time neck computed tomography (CT)-guided ultrasonography (US) in detecting cervical neck lymph node metastasis (LNM) in patients with papillary thyroid cancer (PTC). METHODS: We retrospectively reviewed data from 176 patients (mean age, 43 years; range, 23 to 74 years) with surgically confirmed PTC who underwent preoperative US, neck CT, and neck CT-guided US. We then compared the sensitivities and diagnostic accuracies of each of the three above modalities in detecting cervical LNM. RESULTS: Preoperative US showed 17.3% sensitivity and 58.5% diagnostic accuracy in detecting central LNM compared with 64.3% sensitivity and 89.2% diagnostic accuracy in detecting lateral neck LNM. Neck CT showed 23.5% sensitivity and 55.7% diagnostic accuracy in detecting central LNM and 71.4% sensitivity with 90.9% diagnostic accuracy in detecting lateral neck LNM. CT-guided US exhibited 37.0% sensitivity and 63.1% diagnostic accuracy in detecting central LNM compared with 92.9% sensitivity and 96.0% diagnostic accuracy in detecting lateral LNM. CT-guided US showed higher diagnostic accuracy with superior sensitivity in detecting central and lateral LNM than did US (P<0.001, P=0.011) and CT (P=0.026, P=0.063). CONCLUSION: Neck CT-guided US is a more accurate technique with higher sensitivity for detecting cervical LNM than either US or CT alone. Therefore, our data indicate that neck CT-guided US is an especially useful technique in preoperative examinations.
Humans ; Lymph Nodes* ; Multidetector Computed Tomography ; Neck ; Neoplasm Metastasis* ; Retrospective Studies ; Thyroid Neoplasms* ; Ultrasonography*

Background: Previous studies reported that waist circumference can be a more important risk factor of chronic diseases than body mass index.Abdominal obesity is known to be associated with physical activity and lifestyle. Recent studies have found a high prevalence of abdominal obesity and low physical activity levels in Korean women. The purpose of this study was to investigate the effects of physical activity and lifestyle on abdominal obesity in Korean middle-aged women. Methods: We collected data from the 7th Korea National Health and Nutrition Examination Surveys in 2016 and 2017, and 2,274 women aged 45–65 years were evaluated. Logistic regression analysis was used to examine the association between abdominal obesity and many factors after adjusting for confounding variables with significant correlations. Results: The results showed that the mean waist circumference was 80.20±9.05 cm and the prevalence of abdominal obesity was 28.8% in the population. The low physical activity group had the largest population (48.5%). Abdominal obesity was associated with moderate and high physical activity levels (odds ratio [OR], 0.791; 95% confidence interval [CI], 0.651–0.962; P=0.019), sedentary time (≥5 h; OR, 1.495; 95% CI, 1.173–1.906;P=0.001), and weekend sleep duration (<7 h/d; OR, 1.406; 95% CI, 1.127; P=0.003). Conclusion In the Korean middle-aged women, a statistically significant correlation was found between physical activity and abdominal obesity.

BACKGROUND/AIMS: Colonoscopic polypectomy should be performed on the five to seven hour of clock (standard position). However, outcomes of polypectomy at non-standard positions have not yet been investigated. This study was to compare the clinical outcomes of colonoscopic polypectomy including procedure time, status of resection margin and complications between standard and non-standard position. METHODS: Patients who underwent screening colonoscopy were prospectively recruited from Oct 2011 to Feb 2012 at Dongguk University Ilsan Hosptial, Goyang, Korea. Standard position was defined as polyps which were located from 5 to 7 hour of clock on colonoscopic view. RESULTS: A total of 168 adenomatous polyps of 114 patients were investigated. Mean size of polyp was 7.1+/-3.2 mm. The most common shape of polyps was sessile in 77 cases (45.8%). Mean overall procedure time per patient was 25.5+/-12.3 min. 130 adenomatous polyps were resected in standard position (77.4%) and 38 polyps were in non-standard position (22.6%). Overall complete resection rate was 63.7% and immediate bleeding rate was 9.8%. There was no significant difference in overall polypectomy time per polyp (2.9+/-1.3 min vs. 3.0+/-1.8 min, P=0.32). Complete resection rates and complication were not statistically different. CONCLUSIONS: There was no difference according to procedure time, status of resection margin and complications between standard position and non-standard position. Colonoscopic polypectomy is thus safe and feasible on any position.
Adenomatous Polyps ; Colonic Polyps ; Colonoscopy ; Hemorrhage ; Humans ; Korea ; Mass Screening ; Polyps ; Prospective Studies

A family of calcium-dependent protein kinases (CDPKs) is a unique enzyme which plays crucial roles in intracellular calcium signaling in plants, algae, and protozoa. CDPKs of malaria parasites are known to be key regulators for stage-specific cellular responses to calcium, a widespread secondary messenger that controls the progression of the parasite. In our study, we identified a gene encoding Plasmodium vivax CDPK4 (PvCDPK4) and characterized its molecular property and cellular localization. PvCDPK4 was a typical CDPK which had well-conserved N-terminal kinase domain and C-terminal calmodulin-like structure with 4 EF hand motifs for calcium-binding. The recombinant protein of EF hand domain of PvCDPK4 was expressed in E. coli and a 34 kDa product was obtained. Immunofluorescence assay by confocal laser microscopy revealed that the protein was expressed at the mature schizont of P. vivax. The expression of PvCDPK4-EF in schizont suggests that it may participate in the proliferation or egress process in the life cycle of this parasite.
Amino Acid Sequence ; Cloning, Molecular ; Conserved Sequence ; Escherichia coli/genetics ; Gene Expression ; Gene Expression Profiling ; Microscopy, Confocal ; Microscopy, Fluorescence ; Molecular Sequence Data ; Molecular Weight ; Plasmodium vivax/chemistry/*genetics ; Protein Kinases/analysis/chemistry/*genetics ; Protein Structure, Tertiary ; Protozoan Proteins/analysis/chemistry/*genetics ; Sequence Alignment

Mesenteric vein thrombosis is a rare disease that can be fatal, as it can cause ischemia or infarction of bowels. The mortality rate is 13~50%. The predisposing factors of mesenteric vein thrombosis are numerous, and one of them is diverticulitis. Diverticulitis is a rare disease and mesenteric vein thrombosis caused by diverticulitis has not been reported in Korea. We report a patient with superior mesenteric vein thrombosis associated with diverticulitis of ascending colon, and it was diagnosed by computed tomography and barium enema. After antibiotic therapy, the thrombosis was resolved and the patient was completely recovered.
Barium ; Causality ; Colon, Ascending ; Diverticulitis* ; Enema ; Humans ; Infarction ; Ischemia ; Korea ; Mesenteric Veins* ; Mortality ; Rare Diseases ; Thrombosis*

Advancements in the field of proteomics have provided great opportunities for the development of diagnostic and therapeutic tools against human diseases. In this study, we analyzed haptoglobin and amyloid A protein levels of vivax malaria patients with combinations of depletion of the abundant plasma proteins, 2-dimensional gel electrophoresis (2-DE), image analysis, and mass spectrometry in the plasma between normal healthy donors and vivax malaria patients. The results showed that the expression level of haptoglobin had become significantly lower or undetectable in the plasma of vivax malaria patients due to proteolytic cleavage when compared to healthy donors on 2-DE gels. Meanwhile, serum amyloid A protein was significantly increased in vivax malaria patient's plasma with high statistical values. These 2 proteins are common acute phase reactants and further large scale evaluation with a larger number of patient's will be necessary to establish the possible clinical meaning of the existential changes of these proteins in vivax malaria patients. However, our proteomic analysis suggests the feasible values of some plasma proteins, such as haptoglobin and serum amyloid A, as associating factor candidates for vivax malaria.
Blood Proteins/analysis/diagnostic use ; Electrophoresis, Gel, Two-Dimensional ; Haptoglobins/analysis/diagnostic use/*metabolism ; Humans ; Malaria, Vivax/diagnosis/*metabolism/parasitology ; Plasmodium vivax/physiology ; Proteomics/*methods ; Serum Amyloid A Protein/analysis/diagnostic use/*metabolism