Results of rhabdomyosarcoma treatment in a developing country.
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Fifty-one children (median age: 4.5 years; 4 months-16 years) diagnosed with rhabdomyosarcoma were treated in our center between 1980-1999. The primary sites were head and neck in 31.4%, the genito-urinary system in 21.6%, and extremities in 9.8% of the patients. The histopathologic subtypes were embryonal in 80.4%, alveolar in 9.8%, and undifferentiated in 9.8%. The majority of the patients were considered group III (47%) and group IV (25.5%) according the criteria of the Intergroup Rhabdomyosarcoma Study (IRS). Primary total tumour resection was performed in only 27.5% of the patients. The patients were treated with assigned regimens of IRS II and IRS III protocols. Radiotherapy was applied to 92.1% of the patients. Thirty-four patients (66.7%) were lost to follow up, and of the remaining 17 patients, 7 patients (41.2%) died, relapse occurred in 9 patients (52.9%) and 10 patients (58.8%) are alive. The percentage of cases lost to follow up during the first 10 years and the following 9 years of the study were 77.4% and 50%, respectively. In compliance with cancer treatment remains a major problem in developing countries. (+info)
Liability and validity of the Appropriateness Evaluation Protocol in Turkey.
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OBJECTIVE: To assess the inter-rater reliability between nurses and the convergent validity of the Appropriateness Evaluation Protocol (AEP) in the Turkish context. METHODS: Two nurses applied the original AEP concurrently to a random subsample of 335 patient-days in internal medicine, general surgery, and gynaecology departments at a university hospital and a government teaching hospital, as a part of a larger study. Inter-rater reliability was tested by calculating overall agreement and specific agreements between nurse reviewers' AEP assessments. Validity was tested by comparing the assessments of the nurses based on the AEP with the implicit judgements of five expert physicians on a random subsample of 818 patient-days. Sensitivity, specificity, positive and negative predictive values of the AEP were calculated. Reliability and validity were also evaluated by the K statistic. RESULTS: In the reliability test, there was a high level of agreement between the two independent raters applying the AEP in the three departments studied: overall agreement = 90.7-97.6%; specific inappropriate agreement = 69.1-92.3%; specific appropriate agreement = 88.3-96.6%. In validity testing, the AEP had a sensitivity of 0.83-0.97, specificity of 0.62-0.80, and positive and negative predictive values of 0.84-0.88 and 0.73-0.95 respectively. Kappa coefficients in internal medicine and gynaecology indicated almost perfect agreement in reliability testing and moderate agreement in validity testing. In general surgery, the K coefficients showed substantial agreement in both tests. CONCLUSION: These results indicate that the AEP is a reliable and valid instrument to assess appropriateness of patient-days in Turkey. (+info)
The prevalence of hereditary thrombophilia in the Trakya region of Turkey.
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The prevalences of deficiencies in antithrombin III (AT III), protein C (PC), protein S (PS) and in the activated protein C (APC) resistance in the thrombotic population of the Trakya region, Turkey were investigated. 37 patients with venous thrombosis (VT) and 17 patients with arterial thrombosis (ArT) were included in this study. The mean ages of the patients with VT and ArT were 46 years (range 20-70) and 38 years (range 32-40), respectively. The activity of AT III was measured by commercially available immuno-turbidimetric assay. The activities of PC and PS were determined by coagulometric assay. The APC resistance was measured using a modified APTT-based clotting assay. Among the VT patients, there were 2 cases (5.4%) with AT III, 5 (13.51%) with PC deficiency, 5 (13.51%) with PS deficiency and 2 (5.4%) with APC resistance. In the ArT patient group, there was 1 patient (5.88%) with AT III, 3 (17.64%) with PC deficiency, 1 (5.88%) with PS deficiency and no APC resistant patients, while there was one (2.08%) with PC deficiency and one (2.08%) with APC resistance in the control group (49 persons, mean age 41 years). The relative risk of thrombosis (odds ratio) was 1.7 in the deficiency of PC and 5.6 in the deficiency of PS. The data presented suggests that the prevalences of AT III, PC and PS deficiencies causing thrombophilia in the Trakya region of Turkey are higher than in other reported studies while the APC resistance is lower than in others. Further studies including more patients would be required to clarify these discrepancies. (+info)
Water-pipe smoking and pulmonary functions.
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Water-pipe smoking is a type of smoking habit, widely encountered in Turkey and Arabic and Middle East countries. However there is limited data about the effects of water-pipe smoking. The aim of this study is to investigate this habit with regard to the duration and amount of smoking and to analyse its characteristics and effects on pulmonary function by the correlation of the results with those of cigarette smokers and non-smokers. All cafes in Izmir city were visited for this purpose. A total of 397 males were studied in four groups: water-pipe smokers, water-pipe smokers who used to smoke cigarettes, active cigarette smokers and non-smokers. After recording a detailed history of smoking, pulmonary function tests on each person were performed. There were statistically significant differences between cigarette smokers and non-smokers within most of the parameters. The results of recent study have shown that the detrimental effects on pulmonary function of water-pipe smoking are not as great as cigarette smoking (FEV1, FEV1/FVC parameters were higher in water-pipe smokers), especially on the parameters for small airways (FEF50, MMEF parameters were higher in water-pipe smokers) (P < 0.05). It is difficult to explain the reasons exactly without estimating possible mechanisms in detail, but the most likely mechanisms arise from the smoking technique itself which involves a water filter and a long spout through which the smoke passes before reaching the lungs. (+info)
Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
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Fanconi anemia (FA) is an autosomal recessive chromosomal instability syndrome with at least seven different complementation groups. Four FA genes (FANCA, FANCC, FANCF, and FANCG) have been identified, and two other FA genes (FANCD and FANCE) have been mapped. Here we report the identification, by complementation cloning, of the gene mutated in FA complementation group E (FANCE). FANCE has 10 exons and encodes a novel 536-amino acid protein with two potential nuclear localization signals. (+info)
Familial Mediterranean fever and systemic amyloidosis in untreated Turkish patients.
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We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. No mutation frequency, including that of M694V, was different between the two groups. Family history of amyloidosis and parental consanguinity were noted to be higher in the amyloidosis group. The seven mutations do not appear to be sufficient to explain the development of amyloidosis in Turkish FMF patients. Other genetic factors may be important for this association. (+info)
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.
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3-phosphoglycerate dehydrogenase (PHGDH) deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures. To investigate the molecular basis for this disorder, the PHGDH mRNA sequence was characterized, and six patients from four families were analyzed for sequence variations. Five patients from three different families were homozygous for a single nucleotide substitution predicted to change valine at position 490 to methionine. The sixth patient was homozygous for a valine to methionine substitution at position 425; both mutations are located in the carboxyterminal part of PHGDH. In vitro expression of these mutant proteins resulted in significant reduction of PHGDH enzyme activities. RNA-blot analysis indicated abundant expression of PHGDH in adult and fetal brain tissue. Taken together with the severe neurological impairment in our patients, the data presented in this paper suggest an important role for PHGDH activity and L-serine biosynthesis in the metabolism, development, and function of the central nervous system. (+info)
Relationship between granular cytoplasm of oocytes and pregnancy outcome following intracytoplasmic sperm injection.
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Couples undergoing intracytoplasmic sperm injection (ICSI) for male infertility using oocytes with centrally located granular cytoplasm (CLCG) were evaluated for fertilization, embryo development, implantation and pregnancy rate. CLCG is a rare morphological feature of the oocyte, that is diagnosed as a larger, dark, spongy granular area in the cytoplasm. Severity is based on both the diameter of granular area and the depth of the lesion. Twenty-seven couples with 39 cycles presenting CLCG in >50% of retrieved oocytes were evaluated. A total of 489 oocytes was retrieved, out of which 392 were at MII. CLCG was observed in 258 of the MII oocytes (65. 8%); 66.7% of these oocytes had slight and 33.3% had severe CLCG. The overall fertilization rate was 72.2% and no statistical significant difference was found between normal and CLCG oocytes and between the oocytes representing slight and severe CLCG. The development and quality of embryos was the same in normal and CLCG oocytes. In nine cycles, preimplantation genetic diagnosis was executed to evaluate a possible accompanying chromosomal abnormality. Out of 44 blastomeres biopsied, 23 had chromosomal abnormality (52. 3%). Eleven pregnancies were achieved in 39 cycles (28.2%), six pregnancies resulted in abortion (54.5%). The implantation rate was found to be 4.2%. Only five ongoing pregnancies were achieved in 39 cycles (12.8%). Couples with CLCG oocytes should be informed about poor on-going pregnancy rates even if fertilization, embryo quality and total pregnancy rates are normal. Furthermore, a high aneuploidy rate may be linked to a high abortion rate. (+info)