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

Stem cells can give rise to various cell types and are capable of regenerating themselves over multiple cell divisions. Pluripotency and self-renewal potential of stem cells have drawn vast interest from different disciplines, with studies on the molecular properties of stem cells being one example. Current investigations on the molecular basis of stem cells pluripotency and self-renewal entail traditional techniques from chemistry and molecular biology. In this mini review, we discuss progress in stem cell research that employs proteomics approaches. Specifically, we focus on studies on human stem cells from proteomics perspective. To our best knowledge, only the following types of human stem cells have been examined via proteomics analysis: human neuronal stem cells, human mesenchymal stem cells, and human embryonic stem cells. Protein expression serves as biomarkers of stem cells and identification and expression level of such biomarkers are usually determined using two-dimensional electrophoresis coupled mass spectrometry or non-gel based mass spectrometry.
*Electrophoresis, Gel, Two-Dimensional ; Genetic Techniques ; Humans ; Mass Spectrometry/*methods ; Neurons/*cytology/physiology ; Proteomics/*methods ; Stem Cells/*metabolism

Saccular aneurysm of the external jugular vein presenting as a neck mass is very rare. We report the surgical treatment of an external jugular venous aneurysm in a 48-year-old female patient due to the cosmetic problem of neck engorgement, concomitant with thyroidectomy for cancer.
Aneurysm* ; Female ; Humans ; Jugular Veins* ; Middle Aged ; Neck ; Thyroidectomy ; Vascular Diseases