No abstract available.
Primary Myelofibrosis*

OBJECTIVES: The previous genome-wide association studies have revealed several candidate genes for restless legs syndrome (RLS). The PTPRD (protein tyrosine phosphatase receptor type delta) gene is one of the candidate genes for RLS. The occurrence of antipsychotic-related RLS could also be attributable to differences in genetic susceptibility. This study aimed to investigate whether PTPRD polymorphism is associated with antipsychotic-related RLS in schizophrenia. METHODS: We assessed symptoms of antipsychotic-induced RLS in 190 Korean schizophrenic patients and divided the subjects into two groups according to the International Restless Legs Syndrome Study Group diagnostic criteria : (i) subjects that met all of the criteria (n=44) and (ii) the remaining subjects who were not considered to be RLS patients (n=146). PTPRD rs462664 was genotyped by PCR in 190 individuals. The chi2-test was performed to compare differences between two groups. RESULTS: The frequencies of genotype (chi2=1.31, p=0.519) of the PTPRD rs462664 did not differ significantly between schizophrenic patients with and without RLS. The difference of allele frequencies (chi2=1.30, p=0.25) of the PTPRD rs462664 between the schizophrenic patients with and without RLS were not significant. CONCLUSION: These results suggest that PTPRD gene polymorphism does not play a major role in susceptibility to antipsychotic-related RLS in schizophrenia. This finding suggests that antipsychotic-induced RLS may have a different pathogenesis compared to primary RLS.
Gene Frequency ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Polymerase Chain Reaction ; Restless Legs Syndrome* ; Schizophrenia* ; Tyrosine*

No abstract available.
Peutz-Jeghers Syndrome*

BACKGROUND AND OBJECTIVES: The Herpes Simplex type 2 Defective Infectious Single Cycle virus (DISC virus) is an attenuated virus originally produced as a viral vaccine, but it also serves as an efficient gene transfer vehicle. The main goals of this study were to examine determinants of gene transfer using DISC vectors for squamous cell carcinoma and to evaluate the efficacy of vaccination with the DISC virus carrying a combination of immunomodulatory genes (IL-2, GM-CSF) as cancer therapy in a model of squamous cell cancer in the C3H/HeJ mice. MATERIALS AND METHODS: We determinated the gene and protein expression of DISC-IL-2 and DISC-GM-CSF transfected SCCVII cells by RT-PCR and ELISA method. Also, we evaluated the ex vivo vaccination effects of DISC-IL-2 and DISC-GMCSF on preventing the development of SCCVII tumor. RESULTS: SCCVII cells transduced by the DISC virus vector (MOI=10) carrying the IL-2, or the GM-CSF gene, produced nanogram quantities of IL-2 or GM-CSF per 10(6) cells. Of particular interest was the observation that cells irradiated at different doses (5,000 cGy, 10,000 cGy) secreted levels of GM-CSF or IL-2 that were comparable to non-irradiated cells. In vivo vaccination using tumor cells transduced ex vivo with DISC-IL-2 or DISC-GMCSF resulted in protection against subsequent tumor challenge (p<0.01). Among the multiple immunomodulatory transgenes vaccination groups, the DISC-GMCSF transfected vaccine showed the greatest suppression of tumor development and growth (p<0.001). CONCLUSION: These data demonstrate that: 1) The DISC virus vector is capable of efficient gene transfer to SCCVII cells, 2) The GM-CSF secreting, genetically modified tumor vaccine (SCCVII/GMCSF) efficiently protected against tumor cell challenge and suppressed tumor growth in our tumor model. The DISC virus-mediated, cytokine gene transfer may prove to be useful in clinical therapy for head and neck cancers.
Animals ; Carcinoma, Squamous Cell ; Enzyme-Linked Immunosorbent Assay ; Genetic Therapy* ; Granulocyte-Macrophage Colony-Stimulating Factor* ; Growth and Development ; Head* ; Herpes Simplex ; Interleukin-2* ; Mice ; Neck* ; Neoplasms, Squamous Cell* ; Transgenes ; Vaccination

OBJECTIVES: The previous studies have suggested genetic vulnerability to restless legs syndrome (RLS) development. The occurrence of antipsychotic-related RLS could also be attributable to differences in genetic susceptibility. This study aimed to investigate whether Retinoid-related orphan receptor A (RORA) gene polymorphism is associated with antipsychotic-related RLS in schizophrenia. METHODS: We assessed symptoms of antipsychotic-induced RLS in 190 Korean schizophrenic patients and divided the subjects into two groups according to the International Restless Legs Syndrome Study Group diagnostic criteria : 1) subjects that met all of the criteria (n=44) and 2) the remaining subjects who were not considered to be RLS patients (n=146). Single-nucleotide polymorphism in the RORA gene was genotyped by PCR in 190 individuals. The chi2-test was conducted to compare differences between two groups. RESULTS: The frequencies of genotype (chi2=0.066, p=0.968) of the RORA gene (rs11071547) did not differ significantly between schizophrenic patients with and without RLS. The difference of allele frequencies (chi2=0.008, p=0.927) of the RORA gene (rs 11071547) between the schizophrenic patients with and without RLS were not significant. CONCLUSION: These results suggest that RORA gene polymorphism does not play a major role in susceptibility to antipsychotic-related RLS in schizophrenia.
Child ; Child, Orphaned ; Circadian Rhythm ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Restless Legs Syndrome* ; Schizophrenia*

No abstract available.
DNA* ; Heart* ; Humans*

Carcinoid tumors are well-differentiated epithelial neoplasms that usually can be diagnosed without difficulty based on their distinctive histologic patterns. These tumors are composed of variable numbers of calls that contain endocrine secretory granules in their cytoplasm, which can be identified by histochemistry, immunohistochemistry, and electron microscopy, Carcinoid tumors of the duodenum are relatively rare, the reported incidence being 2.0-8.9% of all gastrointestinal carcinoid tumors dianosed in Western countries. The rate of occurrence among all duodenal tumors is 3-5.5%. We experienced a case of carcinoid tumor of the duodenum in a 53 year-old male patient. He was admitted to our hospital because of epigastric pain. On the gastrofiberscopic examination, 0.7 cm sized Yamada type II polyp with central ulceration was noticed on the duodenal bulb. The biopsy specimen revealed carcinoid tumor. He was treated with polypectomy.
Biopsy ; Carcinoid Tumor* ; Cytoplasm ; Duodenum ; Humans ; Immunohistochemistry ; Incidence ; Male ; Microscopy, Electron ; Middle Aged ; Neoplasms, Glandular and Epithelial ; Polyps ; Secretory Vesicles ; Ulcer

We report two cases or squamous cell carcinoma with transitional cell carcinoma synchronouely developed in renal pelvis at a 51 years old male and a 69 years old female who had large renal calculi. Excretory urograms showed non-visualization of diseased kidneys with staghorn calculi and these patients were underwent nephrectomy. On operation, in both cases, each kidney severely adhered to adjacent fat tissue. Postoperative pathologic result was shown to squamous cell carcinoma with high grade transitional cell carcinoma in each cases. These patients were expired within 6 months.
Aged ; Calculi* ; Carcinoma, Squamous Cell* ; Carcinoma, Transitional Cell ; Female ; Humans ; Kidney ; Kidney Calculi ; Kidney Pelvis ; Male ; Middle Aged ; Nephrectomy

Testicular tumors were reported sporadically in Korea. Seminomatous germ cell tumor is the most frequent tumor in the testis and it is treated highly effectively with irradiation and/or chemotherapy according to stage. Herein we report a relatively rare case of seminoma developed in abdominal cryptorchid testis of 28 years old male. which was treated with PVB chemotherapy after cytoreductive surgery. Histopathological examination revealed seminoma of stage II B(T3N2MO) by M.D. Anderson hospital classification Postoperative PVB chemotherapy was performed and the tumor was completely remitted at follow up study for 4 years.
Adult ; Classification ; Cryptorchidism ; Drug Therapy ; Follow-Up Studies ; Humans ; Korea ; Male ; Neoplasms, Germ Cell and Embryonal ; Seminoma* ; Testicular Neoplasms ; Testis*

PURPOSE: The most important factor discrediting the reliability of MRAs is the overestimation of the degree of stenosis in the internal carotid artery(ICA). The purpose of this study is to evaluate the second aryhemodynamics and the cause(s) for the overestimation of the degree of variable stenotic phantoms of the carotidartery using steady-state flow on MRAs. MATERIALS AND METHODS: Using scrylic materials, normal and variable stenotic phantoms of the bifurcated carotid artery were constructed (40% and 65%). Flow patterns were evaluated with axial and coronal imaging of MRAs (2D-TOF and 3D-TOF) and DSAs of phantoms constructed from an automated closed-type circulatory system filled with 10% glucose solution. These findings were then compared with those obtained from CFD. RESULTS: 3D-TOF axial MRA of asymmetrically 40 percent stenotic phantom revealed 40 percent stenosis identical to the stenotic region of phantoms with continued poststenotic signal loss, whereas 3D-TOFzsial MRA of symmetrically 65 percent stenotic phantom showed markedly decreased signal intensity at the poststenotic segment resembling occlusion. Source image of 2D-TOF coronal MRA showed redistribution (from theinternal to external carotid artery side) of the central axis of inflow depending upon the degree of stenosis ofthe ICA ; this redistribution can be a cause of the decreased signal at the poststenotic segment, due to a reduced volume of flow through the stenotic segment. The general hemodynamics of the variable stenotic phantoms on MRA were identical to the hemodynamics on DSA and CFD. CONCLUSION: Although dephasing from turbulent flow and character of maximum intensity projection (MIP) were suggested as the main cause of the decreased poststenotic signal, our study indicated that a hemodynamically redistributed central axis of inflow and reduced flow volume through stenotic channel is one of the basic factors of the decreased signal intensity ot the poststenotic segmenton MRA.
Axis, Cervical Vertebra ; Carotid Arteries ; Carotid Artery, External ; Constriction, Pathologic* ; Glucose ; Hemodynamics*