Gastric glomus tumor is an uncommon benign, submucosal neoplasm and does not require radical surgical procedure. Because there are no specific clinical or radiologic features associated with the glomus tumor, it can be recognized only by its histologic characteristics. We report a 30-year-old woman who had 10 years history of epigastric hunger pain. Radiologically, a gastric submucosal tumor was discovered, which was suggestive of leiomyoma. Gastric antrectomy was performed. The tumor cells showed immunohistochemical and ultrastructural evidence of smooth muscle differentiation.
Female ; Humans

Rhizomelic chondrodysplasia punctata(RCDP) is a rare autosomal recessive disorder clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a typical dysmorphic face, cataracts, and itchyosis. Patients with RCDP can be subdivided into three subgroups based on biochemical analysis and complementation studies. RCDP type I results from mutations in the PEX7 gene encoding the peroxisomal targeting signal type II(PST2) receptors and presents with both a defect in plasmalogen biosynthesis and phytanic acid oxidation. RCDP type II is deficient in the activity of dihydroxyacetonephosphate acyltransferase(DHAP-AT). RCDP type III is deficient in alkyl-dihydroxyacetonephosphate synthase(alkyl-DHAP). We report a case of RCDP type I which was confirmed with biochemical study, fibroblast culture, and gene study.
Cataract ; Chondrodysplasia Punctata, Rhizomelic* ; Complement System Proteins ; Contracture ; Extremities ; Fibroblasts ; Humans ; Joints ; Phytanic Acid

Venous aneurysm of the superior vena cava(SVC) is a rare congenital lesion and can be classified morphologically as either fusiform or saccular. Although there is a controversy with regard to the need for either conservative or surgical treatment, surgery is recommended for the saccular type as major complications of the aneurysm may occur. We report a case of saccular aneurysm of the SVC, treated by means of an endoluminal stent-graft.
Aneurysm* ; Vena Cava, Superior*

Venous aneurysm of the superior vena cava(SVC) is a rare congenital lesion and can be classified morphologically as either fusiform or saccular. Although there is a controversy with regard to the need for either conservative or surgical treatment, surgery is recommended for the saccular type as major complications of the aneurysm may occur. We report a case of saccular aneurysm of the SVC, treated by means of an endoluminal stent-graft.
Aneurysm* ; Vena Cava, Superior*

Squamous cell carcinoma of the stomach is very rare with a reported incidence of 0.09% of all resected gastric malignancies. We report here two cases of squamous carcinomas and a brief review of literatures. A 74-year old female was admitted because of epigastric pain and vomiting. Abdominal CT, UGI and endoscopic findings revealed a Borrmann type III gastric cancer on the posterior wall of the antrum with pyrolic obstruction and multiple liver metastases. Palliative distal gastrectomy with gastrojejunostomy was performed. The histopathologic diagnosis was adenosquamous cell carcinoma. She died of malnutrition and multiple organ failure 5 months after the operation. The other case was a 53-year old male admitted because of indigestion. Abdominal CT, UGI and endoscopic findings revealed a Borrmann type III gastric cancer on the greater curvature of the antrum with multiple enlargements of the perigastric lymph nodes. Distal subtotal gastrectomy with gastrojejunistomy was performed. The histopathologic finding revealed squamous cell carcinoma. He was discharged after FEC(5-FU, etoposide, cispatin) chemotherapy uneventfully.
Aged ; Carcinoma, Squamous Cell* ; Diagnosis ; Drug Therapy ; Dyspepsia ; Etoposide ; Female ; Gastrectomy ; Gastric Bypass ; Humans ; Incidence ; Liver ; Lymph Nodes ; Male ; Malnutrition ; Middle Aged ; Multiple Organ Failure ; Neoplasm Metastasis ; Stomach Neoplasms ; Stomach* ; Tomography, X-Ray Computed ; Vomiting

PURPOSE: To evaluate the patterns of injuries and frequency of associated findings on MR imaging in patients with both anterior cruciate ligament (ACL) and posterior cruciate ligament (PCL) tears; to compare the associated findings, as seen on MR imaging, in cases with both ACL and PCL tears with those with ACL or PCL tears. MATERIALS AND METHODS: Ten patients with combined ACL and PCL tears, 16 with ACL tears and 18 with PCL tears, all confirmed by arthroscopy or open surgery, were involved in this study. To identify the associated knee injuries, MR images were retrospectively evaluated. RESULTS: In ten patients with combined ACL and PCL tears, open surgery led to the identification of six complete ACL tears (60%), four partial ACL tears (40%), eight complete PCL tears (80%) and two partial PCL tears (20%). Injuries associated with these combined tears, and revealed by MR imaging, comprised six medial collateral ligament injuries (60%), six lateral collateral ligament injuries (60%), five medial meniscal injuries (50%), three lateral meniscal injuries (30%), nine bony injuries (90%), two posterior capsular injuries (20%), and three popliteus muscle injuries (30%). The frequency of popliteus muscle injury was significantly different (p<0.05, Fisher's exact test) between the group with both ACL and PCL tears and that with ACL or PCL tears. CONCLUSION: Associated findings in patients with combined ACL and PCL tears are more frequentthan in those with ACL or PCL tears. In cases involving combined ACL and PCL tears, associated findings-as seen on MR images-should thus be carefully examined.
Anterior Cruciate Ligament ; Arthroscopy ; Collateral Ligaments ; Humans ; Knee Injuries ; Lateral Ligament, Ankle ; Magnetic Resonance Imaging* ; Posterior Cruciate Ligament* ; Retrospective Studies

Krabbe disease is a rare autosomal recessive disorder clinically characterized by retardation in motor development, prominent spasticity, seizures, and optic atrophy. Pathologically, there are many globoid cells in the white matter, in addition to the lack of myelin and the presence of severe gliosis. Hence Krabbe disease is known as globoid cell leukodystrophy. Biochemically, the primary enzymatic deficiency in Krabbe disease is galactocerebroside beta-galactosidase. Patients with Krabbe disease can be subdivided into the early-onset type and late-onset type, according to the onset of clinical manifestations. Most patients with early-onset type die before their second birthday. We describe a girl with Krabbe disease associated with uncontrolled seizures, which was confirmed with biochemical study and MRI. The clinical findings of this patient included hyperirritability, scissoring of the legs, flexion of arm, and clenching of the fists, and generalized tonic seizures. EEG showed hypsarrhythmia, and MRI demonstrated degenerative white matter changes in bilateral periventricular white matter, posterior rim of internal capsule, basal ganglia and brain stem on T2W1 and FLAIR image. The diagnosis was based on clinical features of progressive neurologic deterioration in conjunction with low galactocerebroside beta-galactosidase activity.
Infant ; Male ; Female ; Humans

We experienced a case of partial DiGeorge syndrome in a 35+5 week premature female infant presented with micrognathia, fish-shaped mouth, beaked nose, nasal regurgitation, obstructive sleep apnea, velopharyngeal insufficiency and late onset hypocalcemic seizures. The chromosome 22q11 microdeletion was found by the FISH method. The lab findings showed serum calcium level of 4.4 mg/dL, ionized calcium level of 0.49 mg/dL, phosphorous level of 7.5 mg/dL, magnesium level of 1.3 mg/dL and PTH-RIA level of <1 pq/mL. Initial treatment was done with 10% calcium gluconate infusion and magnesium sulfate followed by oral calcium gluconate and low phosphorous- formula milk feeding. The serum calcium level was normalized in 6 days. Nasal regurgitation, desaturation with obstructive sleep apnea continued. T-cell functions and numbers(CD 3, CD 4, CD 8)were decreased but Ig G/A/M levels were normal. No visible signs of thymus shadow were seen in either chest X-ray and chest MRI. Electrocardiography and echocardiography showed normal heart. Kidney ultrasonographby showed right side mild hydronephrosis. Neurosonography was normal but EEG showed electrical partial seizure. Hearing assessment by BERA showed mild to moderate hearing impairment. Velopharyngoplasty is scheduled for further treatment. A brief review of literature was made.
Animals ; Beak ; Calcium ; Calcium Gluconate ; DiGeorge Syndrome* ; Echocardiography ; Electrocardiography ; Electroencephalography ; Female ; Hearing ; Hearing Loss ; Heart ; Humans ; Hydronephrosis ; Infant ; Kidney ; Magnesium ; Magnesium Sulfate ; Magnetic Resonance Imaging ; Milk ; Mouth ; Nose ; Seizures ; Sleep Apnea, Obstructive ; T-Lymphocytes ; Thorax ; Thymus Gland ; Velopharyngeal Insufficiency

PURPOSE: The purpose of the study was to meta-analyze the relationships of major concepts, which were made by synthesizing similar explanatory variables into more comprehensive concepts, to hope. METHOD: The relevant researches from Jan 1980 to Dec 2003, performed in adults or adult patients, were collected. Using the SAS program, meta-analysis were done with the input data of the number of subjects, the correlation coefficients provided from most of the studies or a few transformed correlation coefficients from F value. In order to get the analysis to be done in homogeneous status of the data regarding each relationship of each major concept to hope(p>0.05), heterogeneous data were eliminated in repeating Q-test. RESULT: The major variable regarding relationship to self/transcendental being/life(spiritual wellbeing & self esteem) and social support(social support & family support) have very large positive effects on hope(D(_)=1.72, D(_)=1.27). The negative effect of the variable regarding captive state(uncertainty in illness, perceived unhealthiness status, & fatigue) and positive effect of coping(approach coping) on hope are in the level between moderate to large(D(_)=-0.61,D(_)=0.78). All the effects of the major concepts on hope were verified as significant statistically(p=.000). The Fail -Safe numbers showed the significant effects of the three major concepts except coping on hope were reliable. CONCLUSION: The results can be a guide to advance hope theory for nursing.
Attitude to Health ; *Emotions ; Humans ; Self Concept ; Social Support ; Spirituality

Recent developments in genome editing technology using meganucleases demonstrate an efficient method of producing gene edited pigs. In this study, we examined the effectiveness of the transcription activator-like effector nuclease (TALEN) system in generating specific mutations on the pig genome. Specific TALEN was designed to induce a double-strand break on exon 9 of the porcine α1,3-galactosyltransferase (GGTA1) gene as it is the main cause of hyperacute rejection after xenotransplantation. Human decay-accelerating factor (hDAF) gene, which can produce a complement inhibitor to protect cells from complement attack after xenotransplantation, was also integrated into the genome simultaneously. Plasmids coding for the TALEN pair and hDAF gene were transfected into porcine cells by electroporation to disrupt the porcine GGTA1 gene and express hDAF. The transfected cells were then sorted using a biotin-labeled IB4 lectin attached to magnetic beads to obtain GGTA1 deficient cells. As a result, we established GGTA1 knockout (KO) cell lines with biallelic modification (35.0%) and GGTA1 KO cell lines expressing hDAF (13.0%). When these cells were used for somatic cell nuclear transfer, we successfully obtained live GGTA1 KO pigs expressing hDAF. Our results demonstrate that TALEN-mediated genome editing is efficient and can be successfully used to generate gene edited pigs.
Animals ; Antigens, CD55/genetics ; Cell Line ; DNA Breaks, Double-Stranded ; Exons/genetics ; Galactosyltransferases/*genetics ; Gene Editing/*veterinary ; Gene Knockout Techniques ; Humans ; Nuclear Transfer Techniques ; Swine ; Transcription Activator-Like Effector Nucleases/*genetics/*metabolism