We report a mild variant of hypomelia-hypotrichosis-facial hemangioma syndrome in a 3 month-old female. The patient showed major features of the previously reported cases including flexion deformities of both upper extremities, sparse light colored hair, mid-facial hemangioma and a characteristic facial appearance. Roentgenogram showed radio-humeral synostosis at both elbow joints by which shortening of upper limbs could be anticipated. However, intra- and extrauterine growth retardation were not remarkable and the lower limbs were not affected.
Congenital Abnormalities ; Elbow Joint ; Female ; Hair ; Hemangioma* ; Humans ; Hypotrichosis ; Lower Extremity ; Synostosis ; Upper Extremity

No abstract available.
Melanoma* ; Spine*

OBJECTIVES: Stress management is related to public healthcare and quality of life; an accurate stress classification method is necessary for the design of stress monitoring systems. Therefore, the goal of this study was to design a novel stress classification model using a deep learning method. METHODS: In this paper, we present a stress classification model using the dataset from the sixth Korea National Health and Nutrition Examination Survey conducted from 2013 to 2015 (KNHANES VI) to analyze stress-related health data. Statistical analysis was performed to identify the nine features of stress detection, and we evaluated the performance of the proposed stress classification by comparison with several stress detection models. The proposed model was also evaluated using Deep Belief Networks (DBN). RESULTS: We designed profiles depending on the number of hidden layers, nodes, and hyper-parameters according to the loss function results. The experimental results showed that the proposed model achieved an accuracy and a specificity of 66.23% and 75.32%, respectively. The proposed DBN model performed better than other classification models, such as support vector machine, naive Bayesian classifier, and random forest. CONCLUSIONS: The proposed model in this study was demonstrated to be effective in classifying stress detection, and in particular, it is expected to be applicable for stress prediction in stress monitoring systems.
Classification* ; Dataset ; Delivery of Health Care ; Forests ; Korea ; Learning ; Machine Learning ; Methods ; Nutrition Surveys ; Quality of Life ; Sensitivity and Specificity ; Support Vector Machine

PURPOSE: The debate is still on-going as to whether a transthoracic esophagectomy (TTE) or a transhiatal esophagectomy (THE) is the proper treatment for patients with cardia and esophageal cancers. This study tries to demonstrate and assess the efficacy and the validity of both surgeries. MATERIALS AND METHODS: In a retrospective study, data from 52 cases of patients with esophageal and/or cardia cancer who received a surgical operation during the last decade were analyzed. RESULTS: A TTE was done in 20 cases and a THE in 32 cases. The average times for the operations were 558.0 min for a TTE and 451.7 min for a THE (P>0.05). The estimated blood loss was 1,825.0 ml in a TTE and 1459.4 ml in a THE (P>0.05). The amounts of transfusion during the operations were 3.9 units in a TTE and 2.6 units in a THE (P<0.05). Post-operative complications occurred in 15 cases of TTE and 23 cases of THE. The average length of stay in the hospital was 25.6 days for a TTE and 20.6 days for a THE. The 5-year survival rate was 10% for TTE patients and 28% for THE patients (P>0.05). CONCLUSION: For most factors, including morbidity and mortality, there was no statistically significant difference between a TTE and a THE. However, a THE is expected to be more convenient, leading to a shorter operative duration, a shorter post-operative hospitalization and lesser amounts of hemorrhage and transfusion. Hence, the THE may be a more valid or efficient surgical method for those patients with cardia and esophagus cancer who require a resection of the esophagus.
Cardia* ; Esophageal Neoplasms* ; Esophagectomy* ; Esophagus ; Hemorrhage ; Hospitalization ; Humans ; Length of Stay ; Mortality ; Retrospective Studies ; Survival Rate

A pair of 19-year-old female identical twins was referred to our hospital with progressive visual loss. They exhibited bilateral chorioretinal atrophy involving the midperiphery on fundoscopy and fluorescein angiography. Bilateral visual field constriction was noted on dynamic Goldmann perimetry, and a markedly impaired response was observed on both photopic and scotopic electroretinograms. Cystoid macular edema was identified in both eyes on optical coherence tomography. Plasma levels of ornithine were elevated. Based on these observations, the patients were diagnosed with gyrate atrophy of the choroid and retina. The clinical diagnosis was confirmed by mutation analysis of the ornithine-delta-aminotransferase (OAT) gene. Patients were treated with a pyridoxine supplement (300 mg/day) and an arginine-restricted diet to lower plasma levels of ornithine, which were successfully reduced without progression of chorioretinal atrophy for 15 months. Our report describes the first case of gyrate atrophy in the Korean population diagnosed by OAT gene analysis and treated with vitamin B6 dietary supplementation.
DNA/*analysis ; DNA Mutational Analysis ; Diagnosis, Differential ; Electroretinography ; Female ; Fluorescein Angiography ; Fundus Oculi ; Gyrate Atrophy/*diagnosis/enzymology/genetics ; Humans ; *Mutation ; Ornithine-Oxo-Acid Transaminase/*genetics/metabolism ; Tomography, Optical Coherence ; Visual Acuity ; Young Adult

PURPOSE: To establish a general guide line in the treatment of the patellar fracture MATERIALS AND METHODS: Twenty three patellar fractures followed for 2.2 years in average, treated with internal fixation were evaluated retrospectively. The primary fixations were the metal screw fixation in 7, the Dall-Miles' cable circumferential fixation in 14 and combination of both methods in 2 cases. The additional fixations were the tension band wiring in 9, the load sharing cable fixation in 3 and combination of both methods in 5 cases. The initial postoperative immobilazation of the knee joint in flexion, preferably 90degrees, for 7 days was effective to gain full range of motion RESULTS: Complete union without displacement was achieved in all cases. Full ROM was achieved in all cases except one. CONCLUSION: The choice of internal fixation need to be individualized according to the level of comminution, bone strength, fracture site and soft tissue damage. A strong internal fixation, initial immobilization in flexion followed by early ROM exercise were important factors to gain good result.
Immobilization ; Knee Joint ; Patella ; Range of Motion, Articular ; Rehabilitation ; Retrospective Studies

Purpose: To evaluate outcomes and complications after traumatic posterior hip fractures and dislocations classified according to the Thompson-Epstein system. Materials and Methods: Thirty-five cases were selected from among the patients we treated between January 2000 and December 2005. According to Thompson-Epstein classification, 5 cases were type I, 7 cases were type II, 5 cases were type III, 8 cases were type IV, and 10 cases were type V. The mean age at the time of injury was 41 years (range: 19~72 years). Twenty-six patients were men, and 9 patients were women. The mechanisms of injury included traffic accidents in 30 cases and falls in 5 cases. The mean follow-up period was 31 months (range: 13~86 months). Fracture reduction was achieved within 6 hours in 32 cases. Thirty-four patients underwent closed reduction, and 22 of these patients were treated using Allis'method. Results: All Thompson-Epstein type I fractures were managed with closed reduction. Two type II fractures were treated conservatively, and 4 were treated with open reduction and internal fixation. All 13 type III and IV fractures were treated using open reduction and internal fixation. Six type V fractures were treated conservatively, 4 were treated with open reduction and internal fixation, and 1 was treated using total hip arthroplasty. Posttraumatic arthritis was observed in 9 cases, 7 of which were Thompson-Epstein type IV. Avascular necrosis (AVN) of the femoral head and deep vein thrombosis were observed in 1 case. Sciatic nerve injury was seen in 5 cases. Conclusion: Complications often occur in Thompson-Epstein type IV fractures. We believe that early, appropriate anatomical reduction helps to improve outcomes.
Arthritis ; Arthroplasty ; Dislocations ; Female ; Follow-Up Studies ; Head ; Hip ; Hip Fractures ; Humans ; Male ; Necrosis ; Sciatic Nerve ; Venous Thrombosis

PURPOSE: The S100 gene family, which comprises over 20 members, including S100A1, S100A2, S100A8, S100A9, profilaggrin, and hornerin encodes low molecular weight calcium-binding proteins with physiological and pathological roles in keratinization. Recent studies have suggested a link between S100 proteins and human cancer progression. The purpose of the present study was to determine the expression levels of hornerin, S100A8, and S100A9 and evaluate their roles in the progression of invasive ductal carcinoma (IDC). METHODS: Seventy cases of ductal carcinoma in situ (DCIS), IDC, and metastatic carcinoma in lymph nodes (MCN) were included. Tissue microarrays were constructed from lesions of DCIS, IDC, and MCN from the same patients. Expression of hornerin, S100A8, and S100A9 was analyzed using immunohistochemistry. RESULTS: The expression of hornerin was associated with the estrogen receptor-negative (p=0.003) and the human epidermal growth factor receptor 2-positive (p=0.002) groups. The expression of S100A8 was associated with a higher pT stage (p=0.017). A significant (p<0.001) correlation between the expression of S100A9 and S100A8 was also found. The mean percentages of hornerin-positive tumor cells in DCIS, IDC, and MCN were 1.0%±3.3% (mean±standard deviation), 12.0%±24.0%, and 75.3%± 27.6%, respectively. The expression of hornerin significantly (p<0.001) increased with the progression of carcinoma. The mean levels of S100A8 and S100A9 in DCIS, IDC, and MCN were not significantly (p>0.050) different. The expression of hornerin increased in a stepwise manner (DCIS Breast Neoplasms* ; Breast* ; Calcium-Binding Proteins ; Carcinoma, Ductal ; Carcinoma, Intraductal, Noninfiltrating ; Estrogens ; Humans ; Immunohistochemistry ; Lymph Nodes ; Molecular Weight ; Receptor, Epidermal Growth Factor ; S100 Proteins

Purpose: To evaluate the clinical characteristics and courses of Best disease in Korean patients. Methods: We retrospectively reviewed the medical records of patients with Best disease followed-up for more than 12 months after diagnosis. The disease stage and best-corrected visual acuity (BCVA) at diagnosis, and stage progression during follow-up, were evaluated. The BCVA at diagnosis was compared to that at the final follow-up. The BCVA changes were compared between those evidencing stage progression and not. Results: A total of 16 patients (32 eyes) were enrolled. The mean follow-up period was 52.1 ± 31.8 months. At diagnosis, three eyes had stage 1, nine stage 2, seven stage 3, 11 stage 4, and two stage 5 disease. During follow-up, stage progression was observed in nine eyes (28.1%). The mean logarithm of the minimal angle of resolution (logMAR) BCVA significantly worsened from 0.19 ± 0.19 at baseline to 0.30 ± 0.27 at the final follow-up (p = 0.004). In six eyes (18.8%), a deterioration of logMAR 0.2 or greater was noted. The extent of deterioration was greater in the nine eyes (0.25 ± 0.26) exhibiting stage progression than in the 24 eyes (0.05 ± 0.08) lacking such progression (p = 0.001). Conclusions The visual acuity of Best disease patients was relatively good at diagnosis. However, stage progression and visual deterioration were noted in some patients. Stage progression was associated with a poor visual prognosis.