Neurofibromatosis type 1 (NF1; also known as von Recklinghausen's neurofibromatosis) is inherited in an autosomal dominant fashion, although it can also arise due to spontaneous mutation. Gastrointestinal involvement of NF1 is seen in 10% to 25% and causes symptoms in fewer than 5%. Histologically, the gastro intestinal (GI) manifestation of NF1 occurs in three forms: hyperplasia of the gut neural tissue, stromal tumors, and duodenal or periampullary endocrine tumors. A 31-year-old female, diagnosed with NF1, presented with poor oral intake and vomiting for 10 days prior to admission. Preoperative gastrofiberscopic finding was gastric outlet obstructing polypoid duodenal bulb lesion. The patient underwent hemigastrectomy with antecolic gastrojejunostomy due to gastric outlet obstruction. The final pathologic report was submucosal neurofibromatous proliferation with Brunner's gland hyperplasia located at the duodenal bulb in the NF1 patient. We report this case with a review of literatures.
Adult ; Female ; Gastric Bypass ; Gastric Outlet Obstruction ; Humans ; Hyperplasia ; Neurofibromatoses ; Neurofibromatosis 1 ; Vomiting

A 41-year-old female was admitted to our hospital for self-audible wheezing sound and dyspnea. On past history, she has been suffered from chest discomfort, and treated recurrently by other hospitals. But, there was no symptomatic improvement. A stridor and mixed wheezing sound was auscultated on whole lung field. PFT revealed fixed type or variable intra- & extra-thoracic air way obstructive pattern. By bronchoscopy & bronchogram, we found web-like structure on the distal trachea. A bronchoplasty was performed and the post-operative PFT showed slight improvement & she had no more complaints.
Adult ; Bronchoscopy ; Dyspnea ; Female ; Hemoptysis* ; Humans ; Lung ; Respiratory Sounds ; Thorax ; Trachea

BACKGROUND AND OBJECTIVES: Analyzing the association between multiple SNPs and the disease outcomes will provide new insight into the disease's etiology. However, this presents an analytic difficulty due to the large number of SNPs and the complex relationships among them. We proposed using the mixed model approach to identify the significant multi-locus genotypes and the high-order gene-to-gene interactions. SUBJECTS AND METHODS: We described the mixed effects model and applied this approach to real world data. For the purpose of these analyses, we examine the association of four types of SNPs (AGT5, APOB, CETP3 and ACE6) with the lipid profiles and the measures related with cardiovascular disease. We used data from 672 healthy individuals (283 males and 389 females) who were without cardiovascular diseases. RESULTS: The results of our analysis suggested that there were significant random genotype patterns and genotype groups according to the gender effect on the lipid profiles. In other words, there was significant variability across the genotype groups because of the effect of gender on the lipid profiles. CONCLUSION: The mixed model approach provided a flexible statistical framework for controlling potential confounding variables and for identifying a significant genetic contributions that may come about through the effects of multi-locus genotypes or through an interaction between the genotype and environmental variables (e.g. gender) with the variations in quantitative traits (e.g. lipid profiles). There were significant genetic contributions to the variability in the lipid profiles, and these were explained by the 4 SNPs described in our real data.
Apolipoproteins B ; Cardiovascular Diseases ; Confounding Factors (Epidemiology) ; Genotype ; Humans ; Male ; Polymorphism, Single Nucleotide

Gastric tuberculosis is a rare disease. It usually occurs secondarily to another lesions and mainly in the lungs. Only a few cases of primary gastric tuberculosis have been reported in the literature. Most commonly, gastric tuberculosis lesion locates in the lesser curvature side of the antrum. Therefore the clinical picture is similar to the peptic ulcer. A 24-year-old women visited to the Inha university hospital complaining of vomiting and epigastric discomfort. Gastrofiberscopy showed multiple polypoid mass around the pylorus with stenotic pyloric channel. Subtotal gastrectomy was performed and histologic examination revealed chronic granulomatous inflammation with caseation necrosis. That is compatible with tuberculosis. The patient was taken antituberculosis medication without complication. So we report the case of pyloric obstruction due to gastric tuberculosis with review of the literature.
Female ; Gastrectomy ; Humans ; Inflammation ; Lung ; Necrosis ; Peptic Ulcer ; Pyloric Stenosis ; Pylorus ; Rare Diseases ; Tuberculosis* ; Vomiting ; Young Adult

BACKGROUND AND OBJECTIVES: It is very important to distinguish between the primary and secondary genetic effects at different sites within a small genetic region. Therefore, we evaluated the relative effects of single nucleotide polymorphisms (SNPs) within a gene on the serum lipid profiles by using individual data. SUBJECTS AND METHODS: To evaluate the contributions of SNPs in a region to the serum lipid profiles (total cholesterol, triglyceride, low density lipoprotein, high density lipoprotein), we used data that consisted of 808 individuals (327 males and 481 females) who did not have cardiovascular disease. In this study, we used a stepwise regression procedure to analyze the relative effects of four single nucleotide polymorphisms (ACE6, ACE7, ACE8, ACE10) in a gene region on the development of the serum lipid profiles in each gender group. RESULTS: In the males, there were epistatic interaction effects between two loci (ACE6xACE7, ACE6xACE8, ACE6xACE10, ACE8xACE10 and ACE7xACE8) and among three loci (ACE6xACE7xACE8, ACE6xACE7xACE10 and ACE6xACE8xACE10). Also, there are interaction effects between two loci (ACE6xACE7, ACE6xACE8, ACE6xACE10, ACE7xACE10 and ACE8xACE10) and among three loci (ACE6xACE7xACE8, ACE6xACE7xACE10, ACE6xACE8xACE10 and ACE7xACE8xACE10) in the females. CONCLUSION: The results suggested that each of these loci is important in causing a relative change of the serum lipid profiles, even with simultaneously accounting for the effects at the other loci. In the results of the analysis, there existed the effects of individual loci and significant interaction between the loci on the serum lipid profiles in each gender group. It was confirmed that this stepwise regression method can be suitable for evaluating the relative effects of SNPs and it is easily performed.
Cardiovascular Diseases ; Cholesterol ; Female ; Genes, vif* ; Humans ; Linear Models* ; Lipoproteins ; Male ; Peptidyl-Dipeptidase A ; Polymorphism, Single Nucleotide* ; Triglycerides

Three-dimensional (3D) tissue/organ printing is a major aspect of recent innovation in the field of tissue engineering and regenerative medicine. 3D tissue/organ printing aims to create 3D living tissue/organ analogues, and have evolved along with advances in 3D printing techniques. A diverse range of computer-aided 3D printing techniques have been applied to dispose living cells together with biomaterials and supporting biochemical factors within pre-designed 3D tissue/organ analogues. Recent developments in printable biomaterials, such as decellularized extracellular matrix bio-inks have enabled improvements in the functionality of the resulting 3D tissue/organ analogues. Here, we provide an overview of the 3D printing techniques and biomaterials that have been used, including the development of 3D tissue/organ analogues. In addition, in vitro models are described, and future perspectives in 3D tissue/organ printing are identified.
Biocompatible Materials ; Extracellular Matrix ; In Vitro Techniques ; Printing, Three-Dimensional ; Regenerative Medicine ; Tissue Engineering

The purpose of the present study was to assess the clinical efficacy of radiofrequency (RF) cervical zygapophyseal joint neurotomy in patients with cervicogenic headache. A total of thirty consecutive patients suffering from chronic cervicogenic headaches for longer than 6 months and showing a pain relief by greater than 50% from diagnostic/prognostic blocks were included in the study. These patients were treated with RF neurotomy of the cervical zygapophyseal joints and were subsequently assessed at 1 week, 1 month, 6 months, and at 12 months following the treatment. The results of this study showed that RF neurotomy of the cervical zygapophyseal joints significantly reduced the headache severity in 22 patients (73.3%) at 12 months after the treatment. In conclusion, RF cervical zygapophyseal joint neurotomy has shown to provide substantial pain relief in patients with chronic cervicogenic headache when carefully selected.
Zygapophyseal Joint/*innervation/*surgery ; Treatment Outcome ; Spinal Nerves/*surgery ; Post-Traumatic Headache/diagnosis/*surgery ; Pain Measurement ; Middle Aged ; Male ; Humans ; Female ; Denervation/*methods ; Catheter Ablation/*methods

PURPOSE: To reduce beam hardening artifacts caused by the shoulder joint, we explored new and unique methods to improve the quality of images, such as varying the injection site and changing the position of patients (swimmers position). MATERIALS AND METHODS: Fifth-four patients underwent neck CT examinations performed in routine and swimmers position and with a 64-slice MDCT scanner in spiral scanning. To examine the difference due to the injection sites of contrast material, subjects were divided into right- and left-side groups. For the evaluation of images, we carried out a subjective and objective assessment based on radiologists' ratings and noise measurement. RESULTS: Images of the lower neck in the swimmers position exhibited less hardening and streak artifacts. The subjective and objective evaluations showed that the swimmers position received higher rating by radiologists and had lower noise level than that of routine position. The swimmers position was the most effective for the diagnosis of the cervico-thoracic junction area. As for the injection site, we obtained better images by an injection of contrast material in the right arm than in the left. CONCLUSION: CT examination of the lower neck in the swimmers position may improve the quality of image and the effectiveness of diagnosis. The injection of a contrast material to the right side rather than the left side reduced foreign body artifacts.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Middle Aged ; Neck/*radiography ; Radiography, Thoracic/*methods ; *Thorax ; Tomography, X-Ray Computed/*methods

Most cases of eosinophilic pneumonia reported previously have followed a chronic course. The case presented here was acute in onset, suggesting a acute eosinophilic pneumonia. A model of criteria for acute and chronic eosinophilic pneumonia was made by Umeki in 1992. A previously healthy young man presented with cough, sputum, fever, and multiple small nodules on the chest radiograph. We confirmed eosinophilic pneumonia with bronchoalveolar lavage analysis and transbronchial lung biopsy. This case examplifies the recently descrived acute eosinophilic pneumonia.
Biopsy ; Bronchoalveolar Lavage ; Cough ; Eosinophils* ; Fever ; Lung ; Pulmonary Eosinophilia* ; Radiography, Thoracic ; Sputum

PURPOSE: Deep vein thrombosis is usually managed conservatively or with radiologic intervention. Yet deep vein reconstruction is of value as one of the treatments for a small group of patients who present with significant chronic venous insufficiency due to hypoplastic, absent or occluded deep venous outflow such as occurs because of chronic ilio-femoral vein thrombosis. Therefore, we evaluate the improvement of symptoms and graft patency after a Palma-Dale operation as a treatment modality for chronic ilio-femoral vein thrombosis. METHODS: From January 2001 to August 2008, a retrospective study was performed on 15 patients with chronic ilio-femoral vein thrombosis that was treated with a Palma-Dale operation. RESULTS: The mean age of the patients was 51.1+/-15.9 years. The ratio of males to females was 8 to 7. All the patients had lower limb swelling. A Palma-Dale operation was performed on all the patients. Simultaneous thrombectomy was done for 1 patient and arteriovenous fistulas were used to improve graft patency in four patients. The mean follow-up period was 36.3+/-24.0 months. Postoperatively, there was improvement of symptoms in all the patients. However, there was recurrence of symptoms in three patients after two or three months. The rate of graft patency was 84.1% at one year after surgery. CONCLUSION: The Palma-Dale operation has the possibility of recurrence of deep vein thrombosis and postoperative complications. Yet in patients with significant chronic venous insufficiency due to chronic ilio-femoral vein thrombosis, this type of surgery is obviously of value with respect to improvement of symptoms and an acceptable graft patency rate.
Arteriovenous Fistula ; Female ; Follow-Up Studies ; Humans ; Lower Extremity ; Male ; Postoperative Complications ; Recurrence ; Retrospective Studies ; Thrombectomy ; Thrombosis ; Transplants ; Veins ; Venous Insufficiency ; Venous Thrombosis