No abstract available.
Primary Myelofibrosis*

No abstract available.
Peutz-Jeghers Syndrome*

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*

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*

We examined the effect of various levels of dietary protein on long term prognosis of Adriamycinnephropathy of S-D rat, fed with high protein (30%), intermediately low (10%), and strictly low (5%) protein diet for 15 weeks. 1) In rats fed with strictly low protein diets (5%), proteinuria and serum creatinine decreased and creatinine clearance and histological changes were relatively well preserved. But hypoproteinemia and weight loss were more marked and 2 rats died due to severe ascites and pleural effusion in cachexic state. 2) In rats fed with high protein diets (30%), general health condition and weight gain were relatively well preserved. But there were massive proteinuria, progressive increase in serum creatinine and progressive decrease in creatinine clearance. Focal glomerular sclerosis and severe tubulointerstitial change on histologic examination were marked. 3) With intermediately low protein diet (10%), renal function and pasma protein levels were relatively well preserved compared with high protein diet group. But weight gain did not increase normally. 4) We tentatively conclude that appropriately restricted dietary protein can prevent functional and histological renal damage. But too strict protein restriction aggravate nutitional state and general condition.
Animals ; Ascites ; Creatinine ; Diet ; Diet, Protein-Restricted ; Dietary Proteins* ; Hypoproteinemia ; Pleural Effusion ; Prognosis* ; Proteinuria ; Rats ; Renal Insufficiency ; Sclerosis ; Weight Gain ; Weight Loss

Three cases of synchronous carcinomas of endometrium-fallopian tube, endometrium-cervix and endometrium-ovary are reported. Case 1 is endometrial endometrioid adenocarcinoma with FIGO stageIb, Grade 2 and tubal serous adenocarcinoma with FIGO stage Ib, Grade 2. Case 2 is endometrial serous carcinoma with FIGO stage Ilb and squamous cell carcinoma with FIGO stage Ial. Case 3 is endometrial endometrioid adenocarcinoma with FIGO stage Ia, Grade 1 and ovarian mucinous adenocarcinoma with FIGO stage IIIa, Grade 2. There is much confroversy with respect to staging and management of such cases since these tumors may represent either two synchronously occuring primaries or single primary with metastases. It is suggested that when each tumor is different histological subtype the tumors may be considered as two separate primaries and treatment may be less aggressive. It may be a favorable prognosis. The authors present three cases of synchronous carcinomas with a review of literature.
Adenocarcinoma ; Adenocarcinoma, Mucinous ; Carcinoma, Endometrioid ; Carcinoma, Squamous Cell ; Neoplasm Metastasis ; Prognosis

OBJECTIVES: This study was performed to explore the association of tryptophan hydroxylase(TPH) gene with diagnosis of alcohol dependence and/or clinical characteristics such as age of onset, family history, and severity of symptoms in Korean alcoholics. METHODS: The genotype and allele frequencies of TPH in 100 male hospitalized patients who met DSM-IV criteria for alcohol dependence were investigated using polymerase chain reaction and restriction fragment length polymorphism and were compared with 100 agematched healthy male control subjects. And the associations between gene polymorphisms and clinical characteristics in alcoholic patients were explored. RESULTS: The distributions of TPH genotype and allele in alcohol dependent patients were not different from control subjects. However, the frequencies of TPH genotype in early-onset alcoholic patients, which were 0.57, 0.39, and 0.04(AA, AC and CC, respectively), were significantly different from those of late-onset alcoholics(0.34, 0.45, and 0.21, respectively). "A" allele was found more frequent in early-onset alcoholics. CONCLUSION: The result suggests that TPH gene polymorphism is associated with early-onset alcoholic patients possibly related with inherited abnormalities of serotonin system.
Age of Onset ; Alcoholics ; Alcoholism ; Alleles ; Diagnosis ; Diagnostic and Statistical Manual of Mental Disorders ; Gene Frequency ; Genotype ; Humans ; Male ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Serotonin ; Tryptophan Hydroxylase* ; Tryptophan*

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

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