Giant cell ependymoma of the spinal cord and fourth ventricle coexisting with syringomyelia

This report presents a case of widespread intramedullary giant cell ependymoma arising from the central canal of the C4 segment of the spinal cord in a 28-year-old man admitted to hospital with tetraplegia and signs of increased intracranial pressure, eight months after surgical spinal cervical decompression without tetraplegia improvement. Magnetic resonance imaging and autopsy revealed a tumour extending from segment C3/C4 of the spinal cord to the lower half of the fourth ventricle with coexisting syringomyelia. This slow-growing ependymoma of low-grade malignancy exhibited unusual morphology as well as degenerative and ischaemic changes. All intramedullary and ventricular tumour segments featured coexistence of two forms of neoplastic cell, classic ependymomal and pleomorphic multinucleated giant cells. The morphological diagnostic criteria of unusual giant-cell variant of ependymoma and tumour-related syringomyelia in adults are discussed, based on the presented case and a review of the literature.     

Prediction of spontaneous conception based on semen parameters

Accurate prognosis of male fertility based on semen measurements is still not straightforward. This study was designed to identify the best predictors of fertility and to develop a multiple regression model predicting fertility using selected parameters of semen analysis. The predictive value of standard semen parameters and selected functional tests were studied in 113 fertile men and in 109 subfertile men whose spouses had a normal infertility workup. Individual semen parameters were evaluated using the receiver operating characteristic curve. Logistic regression based on linear functions of analysed sperm parameters was used to predict the chance of spontaneous conception. Logistic regression modelling revealed that the best prediction of spontaneous conception was obtained using 12 semen parameters: sperm concentration, total progressive motility (A + B), motility grade C or D, normal sperm morphology, defects of: head, acrosome, midpiece and tail, spontaneous acrosome reaction, hypo-osmotic swelling (HOS) test and acid aniline blue test. This mathematical model reached 90.3% accuracy in predicting in vivo conception and 90.8% for its lack. A satisfactory prediction of male fertility was also obtained using only four semen measurements: sperm concentration, total progressive motility (grade A + B), normal morphology, and HOS test; this model correctly identified as fertile 84.1% of those who conceived and identified as subfertile 88.1% of those who did not achieve pregnancy. In conclusion, basic semen analysis and selected functional tests of sperm provide important information regarding male fertility status.     

Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene

BACKGROUND AND PURPOSE: The aim of this study was to perform DNA analysis in patients with clinical diagnosis of Huntington's disease (HD) after molecular exclusion of HD and further molecular examinations for other neurodegenerative diseases such as Huntington's disease-like 2 (HDL-2; gene JPH3), dentatorubral pallidoluysian atrophy (DRPLA; gene ATN1) and spinocerebellar ataxia type 17 (SCA17; gene TBP). MATERIAL AND METHODS: The material comprised 224 DNA samples isolated from peripheral blood from patients suspected of HD and 100 DNA samples from unaffected controls. The control group was used to determine the normal range of the number of CAG/CTG repeats in genes JPH3, ATN1 and TBP in the Polish population. Molecular analysis was carried out by PCR reaction, embracing microsatellite repeats in genes JPH3, ATN1 and TBP with specific, fluorescently labelled primers. PCR products were separated in polyacrylamide gels. The normal ranges of the number of repeats established for the control group in genes JPH3, ATN1 and TBP were 7-19, 9-27 and 29-45, respectively. RESULTS: Molecular analysis of DNA from 224 individuals suspected of HD (117 women and 107 men) revealed one case of dynamic mutation - 55 CAG repeats - in the TBP locus (SCA17). No cases of DRPLA or HDL-2 were detected. The range of CAG/CTG repeats for the JPH3 gene in the patient group was 11-19, with the most common alleles containing 14 and 16 repeats. For the ATN1 gene in patients the range of 8-27 repeats was established and the most frequent allele with 16 triplets was present. CONCLUSIONS: The study on 244 patients referred with the clinical diagnosis of HD and without mutation of the IT15 gene revealed one case of SCA17 but did not disclose the presence of two other diseases with a similar clinical manifestation: DRPLA and HDL2.     

BDNF -270 C>T polymorphisms might be associated with stroke type and BDNF -196 G>A corresponds to early neurological deficit in hemorrhagic stroke

Genetic factors might be involved in stroke prognosis, however the role of brain-derived neurotrophic factor (BDNF) in stroke recovery is unknown. We have studied BDNF -196 G>A and -270 C>T polymorphisms in ischemic and hemorrhagic stroke and their impact on stroke prognosis. There was higher occurrence of BDNF -270 CC genotype in patients with hemorrhagic than ischemic stroke (96% versus 86%, p=0.0495). In hemorrhagic stroke BDNF -196 GG carriers scored better in NIHSS at admission (14.23 versus 21.00, p=0.0192) and after 7days (8.60 versus 15.00, p=0.0408) of onsets. None of the determined polymorphisms had any impact on 30-day early outcome in ischemic and hemorrhagic stroke.     

Polymorphism of the thymidylate synthase gene and risk of relapse in childhood ALL

Polymorphisms of genes encoding proteins involved in drug metabolism can influence the efficacy of leukemia treatment. In this population-wide study we aimed to evaluate selected, metabolically active genetic polymorphisms as prognostic markers of treatment efficacy in acute lymphoblastic leukemia (ALL). A total of 51 cases of leukemia relapse were diagnosed in a group of 354 patients with ALL. A strong association between promoter tandem repeat polymorphism of the thymidylate synthase gene and the relapse frequency was found. We believe that genotyping for this variant should be performed in patients treated for ALL to enable further optimizing of treatment protocols.     

Screening,Brief Intervention,and Referral to Treatment (SBIRT): 12‐Month Outcomes of a Randomized Controlled Clinical Trial in a Polish Emergency Department

Background: A randomized controlled trial of screening, brief intervention, and referral to treatment (SBIRT) among at‐risk (based on average number of drinks per week and drinks per drinking day) and dependent drinkers was conducted in an emergency department (ED) among 446 patients 18 and older in Sosnowiec, Poland. Methods: Patients were recruited over a 23‐week period (4:00 pm to 12:00 midnight) and randomized to 1 of 3 conditions: screened‐only (n = 147), assessed (n = 152), and intervention (n = 147). Patients in the assessed and intervention conditions were blindly reassessed via a telephone interview at 3 months, and all 3 groups were assessed at 12 months (screened‐only = 92, assessed = 99, and intervention = 87). Results: No difference was found across the 3 conditions in at‐risk drinking at 12 months, as the primary outcome variable, or in decrease in the number of drinks per drinking day, with all 3 groups showing a significant reduction in both. Significant declines between baseline and 12 months in secondary outcomes of the RAPS4, number of drinking days per week, and the maximum number of drinks on an occasion were seen only for the intervention condition, and in negative consequences for both the assessment and intervention conditions. Conclusions: Data suggest that improvements in drinking outcomes found in the assessment condition were not because of assessment reactivity, with both the screened and intervention conditions demonstrating greater (although nonsignificant) improvement than the assessed condition. Only those in the intervention condition showed significant improvement in all outcome variables from baseline to 12‐month follow‐up. Although group by time interaction effects were not found to be significant, these findings suggest that declines in drinking measures for those receiving a brief intervention can be maintained at long‐term follow‐up.     

Local calcitriol injections as a suppressive treatment of secondary hyperparathyroidism in chronic dialysis patients

AIM: A prospective study was made of the effectiveness of repeatable local calcitriol injections therapy to suppress secondary hyperparathyroidism resistant to conventional therapy in chronic dialysis patients. METHODS: Under ultrasonographic guidance, six injections at an interval of two days were performed in 14 chronic dialysis patients. The total amount of calcitriol to be injected each time was estimated as 100% of the calculated gland volume. Calcitriol was given in doses 1 mug of medicine per 1 cubic cm (as measured by USG) of parathyroid tissue. Parathormone concentration, total calcium, ionized calcium, phosphate, and alkaline phosphatase levels were assessed on the first and last day of the treatment period. RESULTS: Prior to therapy, the mean gland volumes were 0.62 (0.15-3.0) ml, and they increased to 0.85 (0.2-3.9) after 14 days (NS). Seven patients were found to have decreased their PTH levels to 909 +/- 387 pg/mL after 14 days of treatment when compared with the first day mean values of 1588 +/- 440 pg/mL (p < 0.05). After completion of the therapy, four patients were reported to be free from any clinical symptoms of ostalgia or arthralgia. Others reported an alleviation of pain. CONCLUSIONS: Parathyroid adenoma injection is an alternative method of treatment for some patients resistant to treatment by means of vitamin D3 pulses or intravenous administration of calcitriol. The success of treatment is to a great extent determined by proper selection of patients and the taking of decisions when the period of secondary hyperparathyroidism is not very advanced.     

A Systematic Review of Randomized Controlled Trials Testing the Efficacy of Psychosocial Interventions for Gastrointestinal Cancers

Introduction

Psychological morbidity in those diagnosed with cancer has been shown to result in poorer quality of life and increase the risk of mortality. As a result, researchers have designed and tested psychosocial interventions to improve quality of life and survival of patients diagnosed with cancer.

Methods

A systematic review of the literature was performed to describe the psychosocial interventions that have been tested in patients with gastrointestinal cancers. Databases such as MEDLINE, PsychINFO, PubMed, MedLine, and Cochrane Reviews were searched. The searches were inclusive of studies published in English between 1966 and October 2013. Raters conducted full-text review of the resulting articles for the following eligibility criteria: (1) participants were 18 years or older, (2) the majority of patients in the sample were diagnosed with a gastrointestinal cancer, (3) the trial was testing a psychosocial intervention, and (4) random assignment to one or more interventions versus a usual care, placebo, attention control, or waiting-list control condition.

Results

The interventions that were eligible for this review included psychosocial or behavioral intervention (e.g., cognitive behavioral therapy, problem solving, educational, and collaborative care), physical activity, and/or psychopharmacologic treatment (e.g., selective serotonin reuptake inhibitor). Interventions that included dietary changes were not included in the present review. Study quality was also assessed using the Physiotherapy Evidence Database (PEDro) system. The results of the review resulted in a finding of eight studies to have been conducted, testing psychosocial interventions, in patients with gastrointestinal cancers. Findings of these studies suggested that the interventions were effective in reducing psychological and physical symptoms associated with the cancer, improved quality of life, and reduced immune system dysregulation, and one study demonstrated an improvement in survival. Two studies reported no benefit from psychosocial intervention when compared with a control group. The quality of the studies varied greatly, but reporting of the details of the trials, and the methodological rigor, improved over time.

Conclusion

Further research is warranted to design and test interventions that may be effective in patients diagnosed with gastrointestinal cancers.     

Evaluation of enterochromaffin cells and melatonin secretion exponents in ulcerative colitis

AIM: To study an assessment of the number of enterochromaffin cells and expression of hydroxyindole-Omethyltransferase in colonic mucosa and urine excretion of 6-sulfatoxymelatonin in patients with ulcerative colitis. METHODS: The study included 30 healthy subjects (groupⅠ-C), 30 patients with ulcerative proctitis [group Ⅱ-ulcerative proctitis (UP)] and 30 patients with ulcerative colitis [group Ⅲ-ulcerative colitis (UC)] in acute phases of these diseases. The number of enterochromaffin cells (EC) was estimated in rectal and colonic mucosa. Bioptates were assembled from many different parts of the large intestine. Immunorective cells collected from various parts of the colon were counted according to the Eurovision DAKO (Dako A/S, Copenhagen, Denmark) System in the range of 10 fields in each bioptate at × 200 magnification. The level of mRNA expression of hydroxyindole-O-methyltransferase (HIOMT) in colonic mucosa was estimated with RT-PCR. Urine 6-sulfatoxymelatonin (6-HMS) excretion was determined immunoenzymatically using an IBL (IBL International GmbH, Hamburg, Germany) kit (RE 54031). RESULTS: The number of EC cells in healthy subjects (C) was 132.40 ± 31.26. In patients of group Ⅱ (UP) and group Ⅲ (UC) the number of these cells was higher 225.40 ± 37.35 (P < 0.001) and 225.24 ± 40.50 (P < 0.001) respectively. Similar differences were related to HIOMT expression, which was 1.04 ± 0.36 in group C, 1.56 ± 0.56 (P < 0.01) in group UP and 2.00 ± 0.35 (P < 0.001) in group UC. Twenty-four hour 6-HMS urinary excretion was as follows: C 16.32 ± 4.95 μg/24 h, UP 26.30 ± 7.29 μg/24 h (P < 0.01), UC 42.30 ± 12.56 μg/24h (P < 0.001). A correlation between number of EC cells and 6-HMS excretion was noted in all groups: r = 0.766 in patients with UP, r = 0.703 with UC and r = 0.8551 in the control group; the correlation between the results is statistically significant. CONCLUSION: In the acute phases of both UP and UC, proliferation of EC cells and high expression of HIOMT and uri