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    Cleidocranial dysplasia in a mother and her two children
    (Elsevier France-Editions Scientifiques Medicales Elsevier, 2008) Pamuk, Oemer Nuri; Mundlos, Stefan; Cakir, Necati
    Cleidocranial dysplasia (CCD) is an autosomal dominant disease characterized by skeletal abnormalities which is secondary to haploinsufficiency of the transcription factor Runx2 that plays a role in osteoblast differentiation. In this report, we present a female patient who came to our Rheumatology outpatient clinic with widespread pain, who was diagnosed with fibromyalgia (FM), and who was investigated because of her phenotypic features together with her two children; and consequently, diagnosed with CCD. The diagnosis of CCD was confirmed with genetic analysis. The patient whose alkaline phosphatase was low had no osteoporosis oil DEXA. It is unclear whether CCD has or does not have a causal relationship with widespread pain. (C) 2008 Elsevier Masson SAS. All rights reserved.
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    Elevated platelet-monocyte complexes in patients with psoriatic arthritis
    (Taylor & Francis Ltd, 2009) Pamuk, Guelsuem Emel; Pamuk, Oemer Nuri; Orum, Hueseyin; Arican, Oezer; Turgut, Burhan; Demir, Muzaffer
    We evaluated platelet and endothelial activation parameters in psoriatic arthritis (PsA), a disease reported to be associated with the development of endothelial dysfunction and increased atherosclerotic complications. Twenty patients with PsA, eight psoriasis and 20 healthy controls were included into the study. The patients' clinical features and acute phase parameters were assessed. In all patients and controls, platelet-monocyte complexes (PMC), platelet-neutrophil complexes (PNC), and basal and ADP-stimulated P-selectin expression were determined with flow cytometry; soluble E-selectin (sE-selectin) and soluble CD40L (sCD40L) were determined with ELISA. Patterns of joint involvement and degrees of skin involvement in PsA patients were assessed. PMC in PsA patients were significantly higher than in the control group (p = 0.02). PNC were not significantly different among the three groups (p values > 0.05). sE-selectin levels in both PsA and psoriasis groups were significantly higher than in healthy controls (p values, respectively, <0.001 and 0.023). Basal and ADP-stimulated CD62P expression and sCD40L level were similar in all groups (p values > 0.05). Polyarticular PsA patients had significantly higher sCD40L than oligoarticular plus spondylitic PsA groups (p = 0.04). sCD40L level was higher in active PsA group than in inactive PsA group (p = 0.03). Groups with limited and extensive skin involvement did not differ significantly in the evaluated parameters. C-reactive protein (CRP) level in PsA patients correlated with sCD40L (r = 0.69, p = 0.012), basal CD62P expression (r = 0.89, p < 0.001) and ADP-stimulated CD62P expression (r = 0.73, p = 0.001). Endothelial activation might be have a role in the pathogenesis of both psoriasis and PsA. Among parameters of platelet activation, only PMC might play a role in the pathogenesis of PsA.
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    Frequency of gallstones after renal transplantation and factors that affect gallstone formation
    (John Wiley & Sons Inc, 2007) Celik, Aykut Ferhat; Altiparmak, Mehmet Riza; Pamuk, Guelsuem Emel; Pamuk, Oemer Nuri; Apaydin, Sueheyla
    BACKGROUND: We investigated the frequency of gallstones (GSs) in our renal transplant recipients and evaluated the effects of various factors on GS formation. METHODS: One hundred and eight-two patients who had undergone renal transplantation at our center in the last 12 years were included in the study. Of these, 163 patients were followed up regularly, of whom 118 were using cyclosporine A (CsA). Abdominal ultrasonography of all patients was performed, and biochemical parameters were also determined. RESULTS: Median duration of patient follow-up was 36 months. GSs were diagnosed in 5 patients (3.1%). Mean age and follow-up duration of the CsA group were lower than those of the non-CsA group (p < 0.05 and p < 0.001, respectively). The frequency of GSs was 3.4% in the CsA group and 2.2% in the non-CsA group (p > 0.05). Median time to detect GS formation in the post-transplantation period was 85 months. The CsA group had a significantly shorter GS-free follow-up period than the non-CsA group (p = 0.008). According to Cox multivariate regression analysis, the only factor that affected GS formation in the post-transplantation period was the use of CsA. CONCLUSION: The use of CsA showed a trend toward increasing the risk of developing a GS sooner in the post-transplant period, particularly for young men.
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    Increased platelet activation markers in rheumatoid arthritis
    (Taylor & Francis Inc, 2008) Pamuk, Guelsuem Emel; Vural, Oezden; Turgut, Burhan; Demir, Muzaffer; Pamuk, Oemer Nuri; Cakir, Necati
    Atherosclerotic cardiovascular mortality is increased in rheumatoid arthritis (RA) patients. We evaluated the association of inflammatory response with platelet, endothelial, coagulation activation parameters; and subclinical atherosclerosis in RA patients. We included 27 RA patients (21 female; six male) and 19 healthy subjects (14 female; five male). Disease activity score (DAS28) in RA patients was calculated; and patients were divided into two groups as active and inactive. Flow cytometry was used to determine platelet CD62P expression, platelet microparticles (PMP), platelet-monocyte (PMC) and platelet-neutrophil complexes (PNC). Plasma E-selectin, thrombin-antithrombin (TAT) complex, and serum sCD40L levels were determined by ELISA. The intima-media thickness (IMT) of carotid arteries was determined by B-mode ultrasonography. In RA patients, platelet CD62P expression (p< 0.001), PMC (p = 0.037) and sCD40L (p< 0.001) levels were increased when compared to the control group. PNC (p = 0.07) and TAT levels (p = 0.1) were non-significantly higher, and PMP level (p = 0.075) was nonsignificantly lower in RA patients. Soluble E-selectin level was significantly higher in the active RA group than in the inactive RA group (p = 0.009). There was no correlation between carotid IMT and activity markers, the evaluated parameters (p>0.05).The increase in markers of active platelets, CD62P and sCD40L, and PMC levels might be associated with the increased cardiovascular mortality in RA. Nevertheless, none of these parameters were associated with carotid IMT: this suggests that one cross-sectional value might not be a good marker for atherosclerosis.
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    An increased prevalence of fibromyalgia in iron deficiency anemia and thalassemia minor and associated factors
    (Springer London Ltd, 2008) Pamuk, Guelsuem Emel; Pamuk, Oemer Nuri; Set, Turan; Harmandar, Orbay; Yesil, Nesibe
    In this study, we evaluated the prevalence of fibromyalgia (FM) in iron deficiency anemia (IDA) and thalassemia minor (TM) patients and associated factors. In addition, we investigated the prevalence of IDA in outpatients with fibromyalgia, and its effect on clinical findings. The study included 205 IDA, 40 TM patients and 100 healthy controls. FM was diagnosed according to 1990 ACR criteria. Whole blood count, biochemical tests, and serum iron parameters were determined. Pain, fatigue, and FM Impact Questionnaire (FIQ) functional item scores were assessed in FM subjects. In addition, the prevalence of IDA in FM patients diagnosed at the Rheumatology Outpatient Clinic was determined. The prevalences of FM in IDA (17.6%) and TM (20%) groups were higher than in controls (6%; p values 0.006 and 0.025, respectively). When IDA patients with FM were compared to those without FM, it was seen that a higher percentage were females, married, and a higher percentage had history of pica (all p values < 0.05). Serum hemoglobin and iron parameters did not differ between IDA patients with and without FM. IDA was detected in 48 (24.5%) of 196 FM patients. FM patients without IDA had higher sleep disturbance scores (p = 0.012) and longer duration of FM (p = 0.045). FM was a common finding in patients with IDA and TM. FM was associated with female sex and history of pica in IDA patients, and not associated with serum hemoglobin and selected iron parameters. The presence of FM in TM had no association with any of the above-mentioned parameters.
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    Successful treatment with adefovir of one patient whose cryoglobulinemic vasculitis relapsed under lamivudine therapy and who was diagnosed to have HBV virologic breakthrough with YMDD mutations
    (Japan Soc Internal Medicine, 2006) Cakir, Necati; Pamuk, Oemer Nuri; Umit, Hasan; Midilli, Kenan
    We report a patient whose cryoglobulinemic vasculitis recurred due to reactivation of lamivudine-resistant HBV. Our patient with hepatitis B-related cryoglobulinemic vasculitis was administered lamivudine. Her vasculitis regressed, ALT normalized, HBV-DNA became negative. Under lamivudine therapy, her cryoglobulinemic cutaneous vasculitis recurred. ALT increased significantly; it was found that tyrosine-methionine-aspartate-aspartate (YMDD) motif in the DNA polymerase gene had been replaced by YIDD. Adefovir was added to lamivudine. During follow-up, her purpura disappeared, ALT normalized, HBV-DNA became negative. Our patient is the first whose cryoglobulinemic vasculitis recurred under lamivudine, who had a HBV virologic breakthrough with YMDD mutation, and was successfully treated with adefovir.