Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy

We carried out molecular deletion analysis on 142 patients with Duchenne/Becker muscular dystrophy which covered 25 exons of the dystrophin gene. We also evaluated the results by comparing with the clinical findings and examples in the literature. A deletion ratio of 63.7% was achieved. Exon 46 was the most frequently affected region. Interestingly we also observed four cases with muscle promoter (Mp) region deletions which have been rarely reported in the literature.     

A twelve week exercise program improves the psychological status, quality of life and work capacity in hemodialysis patients

BACKGROUND: Patients with chronic renal failure (CRF) are restricted in physical, emotional and social dimensions of life due to their treatment and their comorbid medical conditions. We aimed to evaluate the effects of a 12-week exercise program on the functional capacity, functional mobility, walking capacity, quality of life and depression in patients with renal failure on hemodialysis (HD). METHODS: Twenty patients with renal failure on HD were included and 14 of them completed the study. The patients went through a 12-week exercise program of 90 min/day, 3 days a week. Exercise and walking capacity, functional mobility, psychological status and quality of life were evaluated pre- and post-training. RESULTS: Following the exercise, peak oxygen consumption, exercise duration and peak workload improved significantly (respectively, p=0.006, p=0.002 and p=0.002). There were significant improvements in the sit-to-stand-to-sit test and the 6- min walk test (p<0.001 and p=0.002). There was a significant reduction in the depression score (p<0.001). Both physical component scale (PCS) and mental component scale (MCS) of the Kidney Disease Quality of Life Short-Form 36 (SF-36) questionnaire showed significant increases (respectively, p=0.002 and p=0.004). CONCLUSION: The application of an appropriate exercise program would improve psychological status and quality of life, as well as work capacity in long-term maintenance HD patients.     

Inhibin alpha and beta expression in ovarian stromal tumors and their histological equivalences

Inhibin is a heterodimeric protein hormone that appears to be a sensitive immunohistochemical marker of sex cord-stromal tumors. Although sex cord-stromal tumors can usually be distinguished from ovarian epithelial tumors or their metastases by morphology or by using antibodies against intermediate filaments, the diagnosis remains difficult in rare situations in such cases as sarcomatoid granulosa-theca cell tumors, ovarian small cell carcinomas, or soft-tissue sarcomas. The purposes of this study were to examine inhibin alpha and beta immunoreactivity in a wide range of gonadal stromal neoplasms and to assess its value in the differential diagnosis of problematic tumors. A total of 108 paraffin-embedded ovarian and extraovarian tumors were examined immunohistochemically by using anti-alpha inhibin and anti-beta inhibin. Inhibin alpha immunostaining was identified in 46 (81%) of 57 gonadal stromal tumors, one (14%) of seven endometrial stromal tumors, and one (50%) of two primary ovarian carcinoid tumors. Inhibin beta immunostaining was detected in 55 (96%) of 57 gonadal stromal tumors, two (29%) of seven endometrial stromal tumors, one (50%) of two dysgerminomas, and in all of two (100%) primary ovarian carcinoid tumors. Inhibin alpha expression was not detected in any ovarian surface epithelial tumor cells. Some surface epithelial tumors showed stromal inhibin alpha (15% of cases) and inhibin beta (48% of cases) positivity. Weak immunoreactivity for inhibin beta was found in most (83% of cases) ovarian surface epithelial tumors. Two ovarian Burkitt lymphomas were negative for inhibin alpha and beta. Inhibin alpha is a sensitive immunohistochemical marker of gonadal stromal tumors and is of value in the differential diagnosis of ovarian neoplasia. Inhibin beta is a nonspecific marker for ovarian neoplasms, showing expression on tumor and stromal cells of different epithelial or stromal tumors.     

Rapid eye movement sleep behavior disorder in parkinsonism with parkin mutations

Rapid eye movement sleep behavior disorder (RBD) in the setting of parkinsonism or dementia often reflects an underlying synucleinopathy. Lewy bodies, intraneuronal aggregates containing abnormal alpha-synuclein, are absent in most cases of parkinsonism with parkin mutations (Park2). We performed clinical history and video-polysomnography in 10 Park2 patients (seven men; age, 51.2 +/- 11.6 years; parkinsonism duration, 18.3 +/- 11.2 years) and found RBD in 6. In all instances, RBD followed the onset of motor symptoms by several years. Our study shows that RBD is frequent in Park2, suggesting that mechanisms other than synuclein deposition can cause RBD in neurodegenerative disorders.     

Gender-related differences among Turkish patients with obsessive-compulsive disorder

The purpose of the present study was to investigate gender-related sociodemographic and clinical differences among Turkish patients with obsessive-compulsive disorder (OCD). A total of 169 patients diagnosed with OCD by DSM-III-R or DSM-IV criteria were included in this study. Male (n = 73) and female (n = 96) OCD patients were compared with respect to the demographic variables and the scores obtained from the Hamilton Rating Scale for Anxiety (HRSA), the Hamilton Rating Scale for Depression (HRSD) and the Yale-Brown Obsessive Compulsive Scale (Y-BOCS). We found a significantly earlier age at onset in male patients. No significant difference in terms of HARS, HDRS, and Y-BOCS scores was detected between the two groups. We observed a significantly higher frequency of contamination obsessions in females, and that of aggression and sexual obsessions in males. There was no significant difference in terms of the frequency of compulsions between the two groups. We also found that compulsion severity on obsessions/compulsions was higher in females and comorbidity rates of social phobia and schizophrenia were higher in males. Considering our results in combination with those of other studies, similarities rather than differences in gender-related sociodemographic and clinical characteristics of OCD patients across different populations seem to be present.     

Conversion and somatization disorders; dissociative symptoms and other characteristics

OBJECTIVE: There is a difference in classification of conversion disorder in ICD-10 and DSM-IV. Conversion disorder is included in dissociative disorders in ICD-10. In view of this, we aimed to clarify this discrepancy in the classification of this diagnosis. METHODS: We assessed 87 patients with conversion disorder and 71 patients with somatization disorder for sociodemographic characteristics, suicide ideation, psychiatric symptoms and dissociative symptoms using the Patient Information Form, the Dissociative Experience Scale (DES), the Symptom Check List (SCL-90-R) and the Suicide Ideation Scale. RESULTS: The number of the high school graduates, singles and students with conversion disorders was higher than the number of patients with the same characteristics who have somatization disorder. In conversion disorder, the SCL-90-R total score and the score in paranoid ideation, psychoticism subgroups were higher than the scores in somatization disorders. There were no statistical differences in suicide ideation and the total score of dissociative symptoms between the two disorders. The number of patients whose total DES score of 30 and above was higher in conversion disorders. DISCUSSION: As a result of this present study, we concluded that to enlighten the concepts of conversion, further somatization and dissociation studies are necessary.     

In vitro activity of dimethylarsinic acid against human leukemia and multiple myeloma cell lines

PURPOSE: Arsenic trioxide (As(2)O(3)), an inorganic arsenic compound, has recently been approved for the treatment of relapsed or refractory acute promyelocytic leukemia. However, systemic toxicity associated with As(2)O(3) treatment remains a problem. Inorganic arsenic is detoxified in vivo by methylation reactions into organic arsenic compounds that are less toxic. METHODS AND RESULTS: We investigated the antiproliferative and cytotoxic activity of dimethylarsinic acid (DMAA), an organic arsenic derivative and major metabolic by-product of As(2)O(3), against a panel of eight leukemia and multiple myeloma cell lines. As(2)O(3) was tested in comparison. In clonogenic assay, the average concentration of DMAA that suppressed cell colony growth by 50% was 0.5-1 m M, while for As(2)O(3) it was on average 1-2 microM. At those concentrations DMAA and As(2)O(3) had significantly less effect on colony growth of normal progenitor cells. Cytotoxic doses of DMAA and As(2)O(3) in 3-day trypan blue dye exclusion assay experiments were similar to doses effective in clonogenic assay. Assessment of apoptosis by annexin V assay revealed a high rate of apoptosis in all cell lines treated with DMAA and As(2)O(3), but significantly less effect on normal progenitor cells. DMAA, unlike As(2)O(3), had no effect on the maturation of leukemic cells. CONCLUSIONS: DMAA exerts differential antiproliferative and cytotoxic activity against leukemia and multiple myeloma cells, with no significant effect on normal progenitor cells. However, concentrations of DMAA needed to achieve such efficacy are up to 1000 times those of As(2)O(3). Evaluation of novel organic arsenic that would combine the high efficacy of As(2)O(3) and the low toxicity of DMAA is warranted.