Cystic degeneration of the fibrous dysplasia presenting with loss of vision.

Cystic degeneration of the fibrous dysplasia is a very rare clinical condition and may present with loss of vision when it involved the skull base. A 12-year-old female child presented with an enlargement of the skull. She was diagnosed as large skull base and skull vault tumor. She underwent partial removal of the tumor, and custom-made titanium implant was inserted. The diagnosis was fibrous dysplasia. Two years after the initial diagnosis, she presented with total loss of vision at her right eye. Radiological imaging confirmed the cystic degeneration within the tumor. She re-operated and the cyst fluid was evacuated in association with the removal of cyst wall. The diagnosis was the cystic degeneration of the fibrous dysplasia. Her vision was improved a few days after the surgery. Fibrous dysplasia of the skull base should be closely followed-up in order to prevent severe visual complications.

A New Clock is Running for Multiple Myeloma: Circadian Clock Protein-Period 3 (PER-3) Polymorphism.

Circadian Clock Protein PERIOD 3 (PER-3) is situated on chromosome 1p36.23 and has a polymorphic domain that expresses 4 or 5 copies of the 54-bp tandem repeat sequence. PER-3 gene polymorphisms play a role in the dysregulation of the immune system. This study intended to investigate the distributions and clinical effectiveness of the PER-3 gene polymorphism in multiple myeloma (MM) patients. One hundred fifty patients diagnosed between January 2007-2009 and 100 healthy individuals were included in this study. All patients were suitable for autologous stem cell transplantation (ASCT) at first evaluation, and after 4 courses of VCD at least partial remission, ASCT was carried out. Later, LD was used as maintenance. Genotypes of PER-3 gene of patients and healthy controls were statistically compared before treatment. In addition, these genotypes' effects on overall and progression free survival (OS and PFS) were investigated. Median PFS in the 5R/5R genotype was found to be significantly longer, albeit low, at 86% (p = 0.046). In the statistical analysis performed between the 4R/4R genotype and others, the PFS of patients with 4R/4R was found to be significantly shorter at 40.4 months (p = 0.026). Patients with the 4R/4R genotype would have a risk of 2.049 times of a shorter PFS (p=0.009). With this first study investigating the effect of a circadian gene in MM, the net effect of PER-3 gene polymorphism on PFS was revealed, and it will be a guide for future studies.

Real world results of venetoclax combined with hypomethylating agents in relapsed/refractory AML.

OBJECTIVE: Relapsed/refractory AML cases are much more resistant to chemotherapy. Venetoclax is a highly sensitive BCL-2 inhibitor. It was aimed to evaluate the effects of venetoclax therapy on real-world R/R AML survival outcomes, the effects of the cytogenetic characteristics of the patients and previous clinical applications on treatment response, and venetoclax treatment toxicity. PATIENTS AND METHODS: The study included patients who only received a venetoclax-based salvage on R/R AML patients from Turkey. The study included a total of 62 patients from 6 different centers in Turkey. Response to 2 cycles of venetoclax treatment was assessed by bone marrow blast rate. The demographic data, cytogenetic characteristics, AML type, MDS type, response rates and overall survival of the patients after venetoclax combination treatment were assessed. Median age of the patients was 65 (19-85). Mean number of prior treatments was 2.67 ±1.75. RESULTS: 13 patients (21%) had a history of allogenic stem cell transplantation. 58 (93.5%) had received HMA therapy before venetoclax. 36 patients (58.1%) had de-novo AML, and 25 (40.3%) previously had MDS. Treatment response was evaluated as complete remission (n = 21, 33.9%), partial response (n = 17, 27.4%), and treatment failure (n = 24, 38.7%). Patients in the TF group were significantly more likely to have poor cytogenetic and to have received allogeneic transplants. The mean estimated overall survival after the venetoclax treatment was 9.13 ± 0.75 months. CONCLUSIONS: The study population consisted of a group of patients who had relapsed or primary refractory disease with poor prognosis, despite numerous rounds of chemotherapy. It is our belief that the high response rates obtained with the combination of venetoclax/HMA, and having obtained positive results with poor risk patients, indicated a promising perspective for R/R AML patients.

[sFRP1 Expression Induces miRNAs That Modulate Wnt Signaling in Chronic Myeloid Leukemia Cells].

Chronic myeloid leukemia is a clonal hematopoietic stem cell disease characterized by myeloid expansion. The hallmark of the disease is the Philadelphia chromosome, which results in the formation of the BCR-ABL oncogene, a tyrosine kinase that is involved in many signaling pathways including Wnt signaling. The latter has a unique role in chronic myeloid leukemia progression; activated signaling leads to the establishment of an additional leukemic stem cell population derived from granulocyte-macrophage progenitors. sFRP1 is an inhibitor of Wnt signaling and its expression is important for differentiation and maintenance of hematopoietic stem cells. In this study, we aimed to investigate miRNAs that target Wnt signaling by being co-induced along with the expression of sFRP1 in K562 cells. We present a detailed analysis of hsa-mir-221 -3p, hsa-mir-222-3p, hsa-mir-106b-5p, hsa-let-7f-5p, hsa-mir-182-5p, hsa-mir-191-5p, and hsa-mir-183-5p and their target genes and their involvement in Wnt signaling.

Assessment of Interleukin 2 Cytokine Expression Levels After Renal Transplantation.

AIM: End-stage renal disease is a disease in which the kidney is not able to perform its functions. Kidney transplantation is the most effective treatment and cost-effective modality of renal replacement therapy for patients with end-stage renal disease. However, the most important problem in end-stage renal disease patients is the unpredictability of immunologic response after transplants. In this study, it was aimed to investigate the possible association between the interleukin 2 (IL-2) expression level and an organ rejection or rejection episode. MATERIALS AND METHODS: Lymphocytes were isolated from peripheral blood obtained from 21 end-stage renal disease-diagnosed patients prior to transplant and at the sixth month after transplant. CD4+ T cells were separated from lymphocytes by the magnetic cell-sorting method. The purity of these cells were controlled by a flow cytometer. After total RNA isolation from CD4+ T cells, IL-2 was examined by the real-time polymerase chain reaction (RT-PCR) method. RESULTS: Among nonrejection patients (n = 18), the IL-2 expression level decreased in 12 patients in post-transplant time, and 3 of these were statistically significant (P < .05). The level was the same in 1 of 18 patients; it increased in 5 patients, and 1 of them was significant (P < .05). The IL-2 expression level also increased in 3 patients who had a rejection episode, and the increase was statistically significant in 2 samples (P < .05). CONCLUSION: When the patients were evaluated individually, it was observed that there might be a relationship between IL-2 expression levels in CD4+ T cells and rejection episodes. The clinical data of the patients, the immunosuppressive therapies, and post-transplant evaluation of cytokines should be considered together.

Investigation of BK Virus by Real-Time Polymerase Chain Reaction in Patients With Allogeneic Bone Marrow Transplantation.

INTRODUCTION: BK virus (BKV) is a common human polyomavirus and causes latent infection. Especially in immunosuppressive patients, early diagnosis and treatment are very important in reducing the high mortality rate. In this study, we investigated BKV DNA in serum and plasma and urine specimens by real-time polymerase chain reaction (PCR) method in allogeneic hematopoietic stem cell transplantation patients. MATERIALS AND METHODS: BKV DNA was isolated in QIAsymphony SP/AS (Hilden, Germany) equipment using QIAsymphony DSP Virus/Pathogen Midi Kit, Version 1 (QIAGEN, Hilden, Germany) in urine and serum samples collected from 100 patients post-transplantation. Artus BKV QS-RGQ, V1 (Qiagen, Hilden, Germany) kit for BKV PCR was prepared according to the company recommendations and loaded on Qiagen Rotor Gene (Hilden, Germany). It was evaluated with PCR, and >27 copies/mL was considered as positive. RESULTS: BKV DNA was positive in 57% of the urine specimens obtained; only 25% of the patients were found to have a significant BKV burden in the urine according to the American Society of Transplantation, suggesting a risk of developing nephropathy. Serum samples of the same patients were negative for BKV DNA in 94 cases and they were positive for BKV DNA at interval between 44 and 319 copies/mL in 6 patients, and none of the patients had clinically significant BKV DNA in serum samples. CONCLUSIONS: Monitoring the viral load with urine samples were thought to be more convenient for the detection of BKV reactivation in our study.

eNOS and XRCC4 VNTR variants contribute to formation of nicotine dependence and/or schizophrenia.

BACKGROUND: This study aimed to evaluate whether VNTR variants in the Endothelial Nitric Oxide Synthase (eNOS) and the XRCC4 gene play any role in nicotine dependence (ND) and/or Schizophrenia+ND (Sch+ND) ethiopathogenesis. METHODS: Present study included 100 individuals with ND, 60 patients with Sch+ND, and 70 healthy controls. These variants were analyzed using PCR. RESULTS: The cases with ND had higher eNOS VNTR-BB genotype than the healthy control subjects (p = 0.001). eNOS-AA genotype was lower in cases with Sch+ND and ND groups compared to the controls (p = 0.001, p = 0.001, respectively). eNOS-B allele was found significantly more frequently in Sch+ND group compared to the controls (p = 0.001). eNOS-A allele was significantly lower in ND group than the controls (p = 0.001). XRCC4-ID genotype was more common in the ND group than the control group (p = 0.001) as heterozygosity disadvantage. XRCC4-DD genotype was more common in the Sch+ND group compared to the controls (p = 0.035). The frequency of XRCC4-I allele was lower in the Sch+ND group compared to the controls (p = 0.012). CONCLUSIONS: Our results showed that eNOS and XRCC4 VNTR variants might play a potential role in Sch+ND and/or ND pathophysiology (Tab. 2, Ref. 48).

The functional variants of endothelial nitric oxide synthase gene associated with rheumatoid arthritis in Turkish adults.

This study aimed to investigate whether functional variants of endothelial nitric oxide synthase (eNOS) gene play any role in rheumatoid arthritis (RA) ethiopathogenesis and treatment in the Turkish population. Because, eNOS variants are responsible for alteration of the NO level in plasma, by reducing/increasing the endothelial NO synthesis. In the study, two eNOS gene variants (G894T and intron 4 VNTR A/B) were examined at extracted DNAs from 65 peripheral blood cell of RA patients. For the control, blood samples obtained from 70 healthy persons were studied. Genotyping of molecular variants was performed by PCR-RFLP and/or PCR technique. The data obtained was compared in itself and response to therapy. We found that "TT genotypic frequency" for the G894T variant was significantly associated with RA with an overall risk of 8.3-fold (p 0.029). No association was identified between intron 4 VNTR A/B variant and RA. At the 6 months, the mean visual analog scale (VAS), health assessment questionnaire (HAQ), and disease activity score for 28 joints (DAS 28) improvement was not significant among groups. Improvement in DAS was significantly better in anti-TNF treatment than disease-modifying antirheumatic drugs (DMARD) treatment treated subgroup. We report for the first time that variants in the eNOS "TT" genotype might be contributed to the increased risk of RA in the Turkish population. These results imply that functional variants of eNOS gene might have an effect on RA patients and response to anti-TNF treatment. In addition, the results suggest that eNOS variants might be associated and affect host susceptibility and/or response to treatment in Turkish RA patients.

Effect of Cytokine Genes in the Pathogenesis and on the Clinical Parameters for the Treatment of Multiple Myeloma.

In this study, we aimed to explore the association among gene variants of five cytokines, tumor necrosis factor alpha (TNF-α), transforming growth factor beta-1 (TGF-ß1), interferon gamma (IFN-γ), interleukin-6 (IL-6), and interleukin-10 (IL-10), and clinical parameters and prognosis in patients with multiple myeloma (MM) treated with novel therapeutic drugs in Turkish population for the first time except TNF-α. We analyzed five cytokine genes in 113 cases with MM and 113 healthy controls. Cytokine genotyping was performed by the polymerase chain reaction-sequence-specific primer method (PCR-SSP). AG genotype associated with high expression in TNF-α gene (-308) variant was found to be significantly higher (p = 0.019), and GG genotype associated with low expression in TNF-α gene (-308) variant was significantly lower in MM group as compared with controls (p = 0.012). IFN-γ (+874) variant TT genotype was increased (p = 0.037), and AA genotype was decreased (p = 0.002) in MM group in contrast to controls. IFN-γ (+874) T allele was higher in MM patients compared with controls (OR = 1.985, p = 0.000), while A allele was significantly lower (OR = 0.5037, p = 0.0005). Multivariate analysis revealed that factors associated with 5-year overall survival (OS) were only IPI III (RR = 1.630, p = 0.018) and thrombocytopenia (RR = 2.207, Cox p = 0.021), while 5-year event-free survival (EFS) was associated with IPI III (RR = 1.524, p = 0.022), thrombocytopenia (RR = 2.902, p = 0.002), APSCT treatment (RR = 1.729, p = 0.035), and female gender (RR = 0.435, p = 0.002) with negative prognostic values. Our results suggested that TNF-α gene (-308) AG genotype and IFN-γ (+874) TT genotype and T allele may have a role on MM, while other cytokines were not associated with the risk of MM.

Effects of TNFα, NOS3, MDR1 Gene Polymorphisms on Clinical Parameters, Prognosis and Survival of Multiple Myeloma Cases.

It is not clear how gene polymorphisms affecting drugs can contributes totheir efficacy in multiple myeloma (MM). We here aimed to explore associations among gene polymorphisms of tumor necrosis factor alpha (TNFα), nitric oxide synthesis 3 (NOS3) and multi-drug resistance 1 (MDR1), clinical parameters, prognosis and survival in MM patients treated with VAD (vincristine-adriamycine-dexamethasone), MP (mephalane-prednisolone), autolougus stem cell transplantation (ASCT), BODEC (bortezomib-dexamethasone-cyclophosphamide) and TD (thalidomide-dexamethasone). We analyzed TNFα, NOS 3 and MDR1 in 77 patients with MM and 77 healthy controls. The genotyping was performed with PCR and/or PCR-RFLP. There was no clinically significant difference between MM and control groups when TNF α(-238) and (-857) and MDR1 gene polymorphisms were studied. However, the TNFαgene polymorphism (-308) GG genotype (p=0.012) and NOS3 (+894) TT genotype (p=0.008) were more common in the MM group compared to healthy controls. NOS3 (VNTR) AA (p=0.007) and NOS3 (+894) GG genotypes (p=0.004) were decreased in the MM group in contrast. In conclusion, the NOS3 (+894) TT and TNF α(-308) GG genotypes may have roles in myeloma pathogenesis.

Determination of the psychiatric symptoms and psychological resilience levels of hematopoietic stem cell transplant patients and their relatives.

This study was performed to evaluate psychiatric symptoms and resilience levels of the hematopoietic stem cell transplant patients and their relatives. The study enrolled 51 patients and 45 relatives undergoing bone marrow transplantation. Data were collected using Personal Information Form, Brief Symptom Inventory and Resilience Scale for Adults. Psychiatric symptoms of both patients and their relatives were negatively associated with resilience levels. Patients and their relatives with a higher degree of resilience showed a lower degree of psychiatric symptoms. The study results demonstrate that haematopoietic stem cell transplantation is a process that affects patients as well as their families. We suggest that patients and their family members be evaluated for psychiatric symptoms by nurses during this process and resilience level of patients be increased by helping them improve their coping and problem-solving skills for adaptation throughout the process.

Research on and clinical importance of duplications in various chromosomal regions in addition to Philadelphia chromosome in chronic myeloid leukemia.

PURPOSE: To investigate the chromosomal aberrations in chronic myelogenous leukemia (CML), particularly in chromosomal regions which carried 67 genes pertaining to oncogenes, transcription factors, signal transduction, tumor suppressors, apoptosis etc, in addition to Philadelphia (Ph+) chromosome by multiplex ligation-dependent probe amplification (MLPA) method and to compare them with clinical parameters. METHODS: The aberrations were investigated in 48 CML patients receiving imatinib therapy and a group of 15 healthy controls, by using the MLPA method between 2000 and 2009. The obtained results were compared both between patient and control groups and with clinical parameters. RESULTS: Duplication was detected in the fibroblast growth factor receptor 1 (FGFR1) gene of 2 patients, inosine 5' monophosphate dehydrogenase 1 (IMPDH1) gene of 4, postmeiotic segregation increased S. Cerevisiae 2 (PMS2) gene of 1, nuclear factor kappa beta (NFKB) of 5 and T-cell translocation 2 (LMO2) gene of 1 patient. Univariate analysis showed that splenomegaly, advanced age, Sokal risk score (SRS) and the duplications in IMPDH1 and FGFR1 genes significantly shortened 7-year event-free survival (EFS); multivariate analysis showed that only the duplications in IMPDH1 and FGFR1 genes were the factors that significantly affected EFS. No statistically significant correlations were detected between duplications and other clinical parameters. CONCLUSION: Duplications in 4 genes (FGFR1, IMPDH1, PMS2, LMO2) in addition to Ph+ chromosome in CML patients were detected for the first time. This study indicates that chromosomes 7 and 8 should be particularly investigated in more detail in addition to the Ph+ chromosome for better determination of disease prognosis and selection of alternative treatments.

Management of Chenopodium polyspermum toxicity with plasma exchange and hemodialysis.

A 45-year-old male patient was admitted to our emergency department complaining of fatigue, headache, mild confusion, nausea, and vomiting. He had had Type 2 diabetes mellitus for 10 years that was managed with insulin injections. Two days before the onset of symptoms, he had consumed the natural herb Chenopodium polyspermum to regulate his blood glucose levels. Upon examination, he was found to be experiencing tenderness in the upper left abdominal area, icteric sclera, and pallor conjunctivas. Laboratory tests revealed that he was anemic and had increased levels of indirect bilirubin, lactic dehydrogenase, and creatinine in blood. Direct and indirect Coombs tests were negative, and fragmented erythrocytes were observed in peripheral blood smears. The best supportive care was provided, and therapeutic plasma exchange (TPE) treatments were administered. TPE was performed five times and hemolytic findings improved. The patient then developed chronic renal failure and was transferred to the dialysis program and discharged. In this article, we present a case with hemolytic and renal toxicity induced by the ingestion of Chenopodium polyspermum that was managed with TPE and hemodialysis.

DNA repair genes polymorphisms in multiple myeloma: no association with XRCC1 (Arg399Gln) polymorphism, but the XRCC4 (VNTR in intron 3 and G-1394T) and XPD (Lys751Gln) polymorphisms is associated with the disease in Turkish patients.

OBJECTIVE: This study aims to investigate the association between the polymorphisms in DNA repair genes (XPD, XRCC1, and XRCC4) and clinical parameters in patients with multiple myeloma (MM), their effects on prognosis and their roles in susceptibility to MM. PATIENTS AND METHODS: Sixty patients, diagnosed with MM and 70 individuals as the healthy control group were included in the study. Gene polymorphisms were detected with the polymerase chain reaction and/or polymerase chain reaction-restriction fragment length polymorphism method. When the genotype frequencies of XPD (Llys751Gln) and XRCC1 (Arg399Gln) genes were examined in the patient and control groups, no significant difference was detected, while a significant association was found in XRCC4 (VNTR in intron 3 and G-1394T) polymorphisms. A significant association was found in the MM patients group for AA genotype and event-free survival (EFS) in terms of XPD (751) gene polymorphism (P = 0.047). When VNTR intron 3 polymorphism was compared for genotype frequency, DD genotype was found to be significantly low (P = 0.012) in the patient group, whereas GG and TT genotypes were found to be significantly lower in the patient group for the genotype frequency XRCC4 (G-1394T) polymorphism when compared to the control group (P = 0.015, P = 0.010, respectively). RESULTS: These data provide support for the hypothesis that a common variation in the genes encoding XRCC4 DNA repair proteins may contribute to susceptibility to myeloma. These findings require further validation in independent populations.

Lack of association between catalase gene polymorphism (T/C exon 9) and susceptibility to vitiligo in a Turkish population.

Accumulation of hydrogen peroxide (H(2)O(2)) and low catalase (CAT) activity have been demonstrated in the epidermis of vitiligo patients. We investigated a possible association between the CAT exon 9 (Asp-389) gene and vitiligo susceptibility in the Turkish population. Thirty-four patients with vitiligo and 49 gender, age and ethnic matched controls were enrolled in the study. Genotyping was done by PCR-RFLP. The CAT exon 9 (Asp-389) genotype and allele frequencies of vitiligo patients did not differ significantly from those of healthy controls. We found no association between CAT (Asp-389) gene polymorphism and vitiligo susceptibility in Turkish vitiligo patients.

The clinical and pathological features of patients with hematological neoplasms: a study of hospital-based Cancer Registry from western Turkey.

PURPOSE: To evaluate the frequency and the main features of patients with hematological neoplasms (HNs) who were diagnosed between 1992-2005 at the Izmir Ataturk Education and Research Hospital (IAEAH), affiliated with Izmir Cancer Registry (ICR) database. METHODS: A total of 2,424 HNs were recorded with reference to ICD-0-3 according to Surveillance, Epidemiology, and End Results (SEER) data among 20,895 recorded cancer patients from 1993 to 2005. The percentages of male and female patients were 58.5% and 41.5%, respectively. The age ranges were as follows: 15-44 years (37.3%), 45-64 (36%), and > 64 (26.6%). One thousand and nineteen (56%) patients had B cell and 108 (5.9%) patients had T/NK (natural killer) cell lymphoid neoplasms. One hundred and ninety-four (10.7%) patients had lymphoblastic leukemia, 267 (14.7%) had Hodgkin's lymphoma (HL), and 603 (24.9%) had myeloid leukemia. Three hundred and five (16.7%) patients had extranodal involvement (in 1821 regions). The major extranodal location was the stomach. CONCLUSION: It seems that our data make a contribution to the relevant literature, because the epidemiologic data of Turkey are inadequate, and hematopoietic neoplasms have different geographic distribution.

Investigation of TNF-alpha, TGF-beta 1, IL-10, IL-6, IFN-gamma, MBL, GPIA, and IL1A gene polymorphisms in patients with idiopathic thrombocytopenic purpura.

Immune thrombocytopenic purpura (ITP) is an autoimmune disease characterized by the presence of autoantibodies developing against thrombocyte membrane glycoproteins (GPs), such as GPIIa/IIIa and GPIb/IX. Single nucleotide polymorphisms (SNPs) of inflammatory cytokine genes were investigated in 71 patients with chronic ITP and 71 healthy controls, and they were compared with the clinical parameters. The polymorphisms in the SNPs were investigated with the polymerase chain reaction, polymerase chain reaction with sequence specific primer, and polymerase chain reaction-restriction fragment length polymorphism methods. It was found that the high expression of TNF-alpha (-308) AG phenotype significantly increased in cases with ITP (odds ratio, OR: 0.318, 95% confidence intervals, CI: 0.103-0.987, p < 0.05). TT genotype in TGF-beta 1 (codon 10) significantly decreased in ITP in comparison with the controls (OR: 0.342, 95% CI: 0.149-0.787, p = 0.016). IFN-gamma (+874) TT genotype was detected to be high in cases with ITP (OR: 3.301, 95% CI: 1.400-7.784, p < 0.05), whereas AA genotype was found to be significantly lower (OR: 4.993, 95% CI: 1.586-15.721, p < 0.05). MBL (codon 54) BB genotype (OR: 1.164, 95% CI: 1.059-1.279, p < 0.05) and IL1A A1/A2 genotype (OR: 0.249, 95% CI: 0.076-0.815, p < 0.05) were found to be significantly higher in cases with ITP than in healthy controls. TNF-alpha (-308) AG phenotype was detected to be significantly higher in steroid-refractory and splenectomized cases at the end of the first year than in the steroid-responsive (complete response (CR) and remission (R)) cases (OR: 4.137, 95% CI: 1.156-14.807, p < 0.05). When we compared the cases, from whom we obtained a CR at their first steroid response, with 12 cases, who entered R but from whom we could not obtain any CR, the frequencies of IFN-gamma (+874) AA genotype were found as 12 (20.3%) and 6 (50%) (OR: 0.082, 95% CI: 0.009-0.793, p < 0.05). MBL (codon 54) AB genotype was detected to be significantly higher in CR patients than in R cases (OR: 1.273, 95% CI: 1.110-1.459, p < 0.05). With these findings, it was found that TNF-alpha/AG, TGF-beta 1/TT, IFN-gamma/TT, MBL/BB, and IL-1RA A1/A2 genotypes were detected as the genes of susceptibility to ITP, while TNF-alpha/AG, IFN-gamma/AA, and MBL/AB genotypes might be important in response to steroid treatment.

The efficacy of external neuromyogenic stimulation on neuromuscular anorectal incontinence.

AIM: This study reports on the preliminary results of external neuromyogenic electrostimulation (ENS) for the treatment of anorectal continence problems. PATIENTS AND METHODS: A total of seventeen patients with anorectal malformations (n=11), Hirschsprung's disease (n=5) or pelvi-perineal trauma (n=1) were included in the study. All patients were evaluated using clinical, radiological, and manometric methods prior to ENS. The Holschneider Continence Scale and the Quality of Life (QOL) Score were used for clinical assessment. The ENS stimulator is a two-channel ambulatory device providing a pulse current. ENS was performed by parents in a home setting twice daily for 6 weeks using skin electrodes attached to the sides of the anus. Three of the 11 preset programs were used (lack of sensitivity, pelvic floor work out and building up endurance). Clinical and manometric variables were reevaluated following completion of the 6-week program. RESULTS: Mean age was 9.7 years (range 5-22 years). The Holschneider Continence Score increased from a mean value of 5.3+/-3.2 to 12.4+/-1.7 (p=0.002) and mean QOL scores increased from 5.6+/-2.3 to 11.6+/-1.8 (p=0.01) following ENS. Mean anal canal resting pressures prior to ENS were 20.3+/-6 cmH (2)O and increased to 28.7+/-14.1 cmH (2)O after 6 weeks (p>0.05). Maximum voluntary squeeze pressures before and after ENS were 56.1+/-16.7 cmH (2)O and 100.7+/-16.9 cmH (2)O respectively (p=0.001). CONCLUSION: Preliminary results for ENS have shown that patients achieved higher maximum voluntary squeeze pressures, and showed a marked improvement in their continence and QOL scores. Given the advantage of ambulatory use in a home setting, the ENS seems promising in terms of achieving improved anorectal continence in selected patients.

Association of macrophage migration inhibitory factor gene promoter polymorphisms with multiple sclerosis in Turkish patients.

Elevated levels of macrophage migration inhibitory factor (MIF) have been observed in the cerebrospinal fluid of patients with multiple sclerosis. This study was designed to determine if MIF gene polymorphisms are associated with multiple sclerosis and disease severity. In total, 120 relapsing-remitting patients with multiple sclerosis and 120 control subjects were enrolled in the study. There was a statistically significant increase in the MIF -173 CC genotype in patients with multiple sclerosis compared with the control subjects. The MIF -794 6/7 genotype had a significantly lower progression index compared with MIF -794 6/6. Patients with the MIF -173 CC genotype had a significantly lower age of disease onset compared with those with the MIF -173 CG and MIF -173 GG genotypes. Additionally, patients with the MIF -794 5/6 genotype had a significantly later age of disease onset. This study indicates that the MIF -173 CC genotype may cause susceptibility to multiple sclerosis in the white Turkish population and a younger age of disease onset is associated with this polymorphism.

TNF-alpha promoter polymorphisms in multiple sclerosis: no association with -308 and -238 alleles, but the -857 alleles in associated with the disease in Turkish patients.

Dysregulation in the expression of pro- and anti-inflammatory cytokines is one of the milestones in multiple sclerosis (MS) development and progression. Tumour necrosis factor (TNF-alpha), a proinflammatory cytokine is believed to play an important role in MS pathogenesis. The objective of this study is to investigate the association between TNF-alpha promoter region (TNF-alpha-238, -308 and -857) and susceptibility to MS and clinical course of the disease. Eighty-six relapsing remitting MS patients and 150 sex-, age- and ethnic-matched controls were enrolled in the study. Genotyping was performed by PCR-RFLP method. We observed a statistically significant increase in TNF-alpha 857 CC genotype in MS patients than controls (P < 0.001) while TNF-alpha 857 CT genotype showed a significant negative correlation with MS patients (P = 0.033). No differences in the distribution of the TNF-alpha-238 and -308 alleles were observed. None of the three polymorphisms (-238, -308 and -857) did not show relation with disease duration, Expanded Disability Status Scale or age of onset. On the other hand, significant difference of TNF -857 CC genotype was identified with the low disease index (P = 0.025). Although the study group is small, the results indicate that TNF-alpha 857 CC genotype may cause susceptibility to MS in the Turkish population.