This article describes a case of intra-abdominal desmoplastic small round cell tumor(DSRCT) experienced by the authors. The patient was 36ear old male, and admitted because of the mass of right inguinal area, back pain, weakness of low extremities. Imaging studies, right inguinal mass biopsy finding, immunohistochemical stains were compatible with DSRCT. Aggressive treatment with chemotherapy resulted in remarkable response temporarily in terms of tumor size and pulmonary metastasis. But as other author`s reports, multiple metastases to brain, spine, lung were progressed in our case. The patient died 13months after diagnosis.
Back Pain ; Biopsy ; Brain ; Coloring Agents ; Diagnosis ; Drug Therapy ; Extremities ; Humans ; Lung ; Male ; Neoplasm Metastasis ; Spine

BACKGROUND/AIMS: Telomerase activity and telomerase reverse transcriptase (TERT) expression have been proposed as a marker for malignancy. However, little is known about those markers in intestinal metaplasia (IM). This study was performed to evaluate the usefulness of telomerase activity in gastric washing fluid and TERT expression in tissue as a marker for early diagnosis of stomach cancer. METHODS: Gastric washing fluid and biopsies were taken endoscopically. We examined the telomerase activity by telomeric repeat amplification protocol (TRAP) and the TERT expression by semiquantitative reverse transcription-polymerase chain reaction in 26, 21 and 15 cases of cancer, IM, and normal mucosa respectively. RESULTS: The telomerase activity was positive in 65% of cancer, 44% of incomplete IM, and 33% of complete IM. The TERT was expressed in 89% of cancer, 81% of IM, but not in normal mucosa. The TERT expression level was higher in cancer and incomplete IM than in complete IM and normal mucosa (p<0.05). CONCLUSIONS: Telomerase activity in gastric washing fluid and TERT expression in tissue may have limited usefulness as a marker for the early diagnosis of stomach cancer. However, the increased levels of TERT expression in IM and cancer suggest that TERT expression may be associated with carcinogenesis in stomach cancer.
DNA-Binding Proteins ; Gastric Lavage ; Gastric Mucosa/enzymology ; Humans ; Metaplasia ; Precancerous Conditions/diagnosis ; Stomach/enzymology ; Stomach Neoplasms/*diagnosis/enzymology ; Telomerase/*analysis ; Tumor Markers, Biological/*analysis

BACKGROUND/AIMS: ALADIN gene has been known to cause achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. A considerable proportion of achalasia patients has been known to show alacrima (decreased secretion of tear). However, the genetic mechanism between achalasia and alacrima has not been defined yet. We postulated that ALADIN gene may be involved in the occurrence of early-onset achalasia; thus, we investigated the correlation of ALADIN gene in early-onset achalasia patients. METHODS: From 1989 to 2007, patients who were diagnosed as primary achalasia before age 35 were enrolled. All of the enrolled patients were asked for (1) blood sampling for DNA, (2) Shirmer test and (3) dysphagia questionnaires. RESULTS: The ALADIN gene in exon 1, 2, 10, 11 and 12 from 19 patients was investigated (M:F = 12:7). The mean age of patients at diagnosis was 27 +/- 5 (15-35) years old. Eight out of 19 (42%) showed alacrima by the positive Shirmer test. In spite of thorough exam in the genetic study, there was no definite abnormal genetic finding in this study. CONCLUSIONS: A considerable number of achalasia patients showed alacrima. Due to the limitation of this study, it is difficult to conclude that early-onset achalasia may have significant correlations with the ALADIN gene.
Deglutition Disorders ; DNA ; Esophageal Achalasia ; Exons ; Eye Diseases, Hereditary ; Humans ; Lacrimal Apparatus Diseases

OBJECTIVES: The aim of the present study was to investigate gender difference in empathic ability and recognition of facial emotion expression in schizophrenic patients. METHODS: Twenty-two schizophrenic outpatients (11 men and 11 women) and controls (10 men and 12 women) performed both the scale of Empathic Quotient (EQ) and facial emotion recognition test. We compared the scores of EQ and the facial emotion recognition test among each group according to diagnosis and gender. RESULTS: We found a significant sex difference in the scores of EQ and the facial emotion recognition test in the schizophrenic patients. And there were significantly negative correlation between the score of the facial emotion recognition test and the scores of Positive and Negative Symptom Scale (PANSS) in female schizophrenic patients. However, in male schizophrenic patients, there were no significant correlations between the score of each test and the scores of PANSS. CONCLUSIONS: This study suggests that the sex difference in empathic ability and facial emotion recognition would be very important in chronic schizophrenic patients. Investigation of sex effects in empathic ability and facial emotion recognition in chronic schizophrenic patients would present an important solution for constructing optimal rehabilitation program.
Diagnosis ; Empathy ; Female ; Humans ; Male ; Outpatients ; Rehabilitation ; Schizophrenia ; Sex Characteristics