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

Acute aortic dissection is a catastrophic event. Nowadays, the management of aortic dissection can be challenging with performing procedures such as aortic fenestration, stenting and endovascular treatment. While most cases of acute Stanford type A dissection are managed surgically, many cases of acute Stanford type B dissection are treated medically, although open surgery or stent-graft placement is sometimes performed. Patients with Stanford type B dissection may develop vascular complications such as mesenteric or peripheral ischemia, which cannot be managed medically. Fenestration is a procedure for decompressing the hypertensive false lumen by creating a hole in the distal part of the dissection flap and this allows outflow from the false lumen, it relieves branch vessel obstruction, it restores the flow to the ischemic organ and it reduces the risk of extension or rupture of the dissection. Urgent revascularization is required to correct mesenteric and renal ischemia and to restore distal perfusion if there is rest pain and ischemia signs at the lower extremity. We report here on a case of successful surgical fenestration of an acute aortic dissection for relief of lower limb ischemia, and we utilized a transfemoral artery to puncture the obstructed intimal flap.
Arteries ; Femoral Artery ; Glycosaminoglycans ; Humans ; Ischemia ; Lower Extremity ; Perfusion ; Punctures ; Rupture ; Stents

We recently treated two cases of chronic pancreatitis with obstructive jaundice due to compression of the common bile duct by pancreatic pseudocyst. The two cases were males admitted with the complaint of icteric skin color. The first, a 46-year-old male, admitted with the complaint of icteric skin color. He was treated by operative cystojejunostomy after percutaneous drainage of the pseudocyst and percutaneous transhepatic biliary drainage. The other case was a 58 year-old male who admitted with the complaint of icteric skin color. He had an infected pseudocyst in the pancreas and was endoscopically treated. Both of them were discharged with favorable clinical course and normal laboratory findings after the treatment. The former patient remained well 11 months after treatment, but the latter patient died from necrotizing pancreatitis and septic shock 6 months after treatment. Most cases of obstructive jaundice associated with pseudocysts appear to be due to fibrotic stricture of the intrapancreatic portion of the common bile duct rather than due to compression of the bile duct by the pseudocyst. In a patient with secondary pancreatic infection or obstructive jaundice following pancreatic disease, differentiating between these two conditions is an important aspect of accurate diagnosis and therapy. Herein we report two unusual cases of chronic pancreatitis with pseudocyst complicated by obstructive jaundice.
Case Report ; Cholestasis/therapy ; Cholestasis/etiology* ; Chronic Disease ; Human ; Male ; Middle Age ; Pancreatic Pseudocyst/complications* ; Pancreatitis/complications*

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