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Öğe Common variable immunodeficiency (CVID) presenting with malabsorption due to giardiasis(2005) Onbaşi K.; Günşar F.; Sin A.Z.; Ardeniz Ö.; Kokuludag A.; Sebik F.Common variable immunodeficiency is characterized with B-cell and T-cell dysfunction and hypogammaglobulinemia. Recurrent bacterial infections, such as otitis media, chronic sinusitis and recurrent pneumonia due to diminished immunoglobulin (Ig) levels and impaired antibody production are frequently observed in common variable immunodeficiency. Almost half of the patients with common variable immunodeficiency have problems related to the gastrointestinal system. A 39-year-old woman was referred to our department with the complaint of chronic diarrhea. She had experienced diarrhea without mucus or blood in the last year and had lost 30 kg. In her medical history, she had suffered from recurrent upper and lower respiratory infections like sinusitis, otitis media and pneumonia since childhood. Serum immunoglobulin levels were low. There were no parasites or ova in her stool examinations. Esophagogastroduodenoscopy detected widespread macroscopic nodular appearance on duodenum, and biopsies from the duodenum revealed giardiasis invading the tissue. She was diagnosed as common variable immunodeficiency. After metronidazole therapy and intravenous immunoglobulin infusion was started, her diarrhea attacks ceased and she regained her normal weight. Common gastrointestinal system problems in patients with common variable immunodeficiency are lactose intolerance, lymphoid hyperplasia / diffuse lymphoid infiltration, loss of villi and infection, especially with Giardia lamblia. Giardiasis may lead to severe mucosal flattening and sometimes to lymphoid hyperplasia at the lamina propria of the duodenum. Medical history should be evaluated carefully regarding recurrent respiratory infections. In such cases with chronic diarrhea, common variable immunodeficiency should be kept in mind as a possible cause.Öğe How familiar are internists with a potentially deadly orphan disease?: Hereditary angioedema [Ölümcül olabilen yetim bir hastalığa ıç hastalıkları uzmanları ne kadar Aşina?: Herediter anjiyoödem](Turkiye Klinikleri, 2015) Mete Gökmen N.; Gülbahar O.; Peker Koç Z.; Büyüköztürk S.; Sin A.Z.; Gelincik A.; Gürlek F.; Ardeniz Ö.; Kokuludağ A.Objective: Hereditary angioedema (HAE) is a rare genetic disorder characterized by episodes of swelling in the skin, gastrointestinal tract and larynx. Laryngeal attacks can be fatal, especially in mis-/undiagnosed cases. In Turkey, the mean diagnostic delay of HAE is as long as 26 years. This study was conducted to assess Turkish doctors’ awareness of HAE. Material and Methods: A 20- question questionnaire was completed by 155 internal medicine specialists from among the attendants of 14th National Congress of Internal Medicine in Turkey. The questionnaire included HAE-related questions as well as demographic items. Results: Most doctors (93.5%) reported that they had heard of HAE, and 41.9% had followed at least one patient with HAE, however, 22% of them understood the role of C1 inhibitor in HAE, but 38.7% had no idea about HAE pathogenesis. The only fatal symptom, laryngeal edema, was named by 18% of respondents. Five percent of the respondents knew C4 level was the screening test; 6% knew that C1-INH level/function analysis is necessary for diagnosis. Approximately 10.3% of respondents knew an effective treatment for acute attacks; 18.7% knew a long-term prophylactic therapy. Conclusion: We concluded that although most internists are aware of HAE, they are not knowledgeable enough to diagnose and manage the disease. © 2015 by Türkiye Klinikleri.Öğe Incidence of Parasitic Diarrhea in Patients with Common Variable Immune Deficiency(2016) Uysal S.; Tunalı V.; Akdur Öztürk E.; Ardeniz Ö.; Işıkgöz Taşbakan M.; Pullukçu H.; Özensoy Töz S.; Turgay N.; Arda B.OBJECTIVE: Parasites might cause atypical and severe infections in immunocompromised hosts. The prevalence of diarrhea among common variable immune deficiency (CVID) syndrome patients varies between 20% and 94%, which indicates that diarrhea and gastrointestinal system (GIS) complaints could be the second leading cause of morbidity in CVID patients after respiratory tract infections. This study aimed to assess the prevalence of intestinal parasites in CVID patients with GIS complaints and diarrhea.METHODS: In this study, all cases followed up in the Immunology and Allergy Clinic of Ege University School of Medicine from July 2008 to August 2015 with the diagnosis of CVID were reviewed retrospectively. The stool samples of patients with diarrhea were identified using direct microscopy of native (0.09% NaCl) and Lugol's iodine preparations followed by formol-ethyl acetate concentration to apply modified Kinyoun, trichrome, acid-fast trichrome, and modified trichrome stains for the presence of intestinal parasites.RESULTS: Overall, 26 of 37 CVID patients had diarrhea; white and red blood cells (WBCs and RBCs, respectively) were identified in 11 and 10 of these 26 samples, respectively. Intestinal parasites were found to be present in 7 of the 11 patients with WBCs and 3 of the 10 patients with RBCs. With the addition of patients who neither had WBCs nor RBCs in their stool, a parasitic agent was detected in 13 (50%) of the 26 patients with diarrhea. There was no significant difference between the diarrheic patients with or without intestinal parasites with respect to cramps, fever, nausea and vomiting, tenesmus, bloody feces, and presence of mucus in the stool. Only one patient had malabsorption, which was not associated with intestinal parasites. The most common parasites detected in this study were Cryptosporidium spp. (n=9; 69.2%), Giardia spp. (n=7; 53.8%), and Blastocystis spp. (n=3; 23.1%). We also identified that parasitic diarrhea in CVID patients tended to last longer (M (mean): 16.2 days) than other causes of infectious diarrhea; this is in accordance with previous studies.CONCLUSION: Cryptosporidium spp. was found be the major cause of parasitic intestinal infection in this patient population. It was concluded that parasitic infections may cause chronic diarrhea, which are major causes of morbidity in CVID patients. Therefore, special attention is necessary for the identification of intestinal parasites in CVID patients with diarrhea.Öğe T-lymphocyte subgroups and tuberculin skin test reactivity in patients with chronic renal failure [Kronik böbrek yetmezlikli olgularda tüberkülin cilt testi yaniti ve T-lenfosit alt gruplari](2006) Kaçmaz Başoglu Ö.; Atasever A.; Gündüz Telli C.; Özol D.; Aşçi G.; Ardeniz Ö.; Güzelant A.; Bacakoglu F.; Sayiner A.As anergy is common in patients with chronic renal failure (CRF), the use of tuberculin skin test (TST) is controversial. Therefore, determination of the factors that affect the TST reactivity would increase the diagnostic value of the test. The aim of the present study was to investigate the factors affecting TST reactivity and evaluate the relationship between T-lymphocyte subsets and TST reactivity. We thus examined 44 patients (mean age 46.6 ±J5.6 years, 25 males, duration of CRF 5.6 ± 5.2 years), performed TST (an induration with a diameter of 5 mm or more was considered as positive) and measured T-lymphocyte subsets and biochemical parameters. Twenty-three patients were on hemodialysis, six were on peritoneal dialysis, seven were transplant recipients, and eight were on medical treatment. Eleven patients (25%) had immunosuppressive treatment. Eleven patients (25%) had two, 29 patients (66%) had one, and four patients (9%) had no BCG scars. Five patients (11%) had low body mass index (BMI). T-lymphocyte subsets were as follows: CD4= 40.7 ± 7.6%, CD8= 32 ± 8.9%, CD4/CD8= 1.7 ± 2.5%, CD3= 71.4 ± 9.4%, CD19= 6.3 ± 5.1%, NK= 9.7 ± 5.9. Twenty-two patients had positive TST reactivity. No relation was found between TST reactivity and age, gender, co-morbidity, BCG vaccination, BMI, immunosuppressive therapy, duration and treatment of CRF. Similarly, TST reactivity was not related to the biochemical parameters and T-lymphocyte subsets. These data provide that tuberculin reactivity does not seem to be associated with T-lymphocyte dysfunction and clinical features in patients with chronic renal failure.Öğe Thymoma and immunodeficiency syndrome (Good's syndrome): Medical education [Timomaya eşlik eden i·mmün yetmezlik (Good's sendromu)](Turkiye Klinikleri, 2007) Ardeniz Ö.Thymomas are tumors originating from tyhmic epithelium that should be considered in the differential diagnosis of adult patients with hypogammaglobulinemia. Thymomas are usually detected in patients over 40 with myasthenia gravis or in asymptomatic patients with a mediastinal mass recognized during a routine check-up. Patients with thymoma who were referred to a chest surgery clinic for removal of the tumor should be evaluated in terms of an accompanying immune deficiency (Good's syndrome). Ignorance or a delay in the diagnosis may cause death due to severe infections associated with opportunistic pathogens. It should be noted that hypogammaglobulinemia might be detected many years after the removal of the thymoma and so it would be appropriate to follow such patients regularly in an immunology department. Copyright © 2007 by Türkiye Klinikleri.Öğe Vitamin D and the immune system: Medical education [Vitamin D ve i·mmün sistem](Turkiye Klinikleri, 2008) Ardeniz Ö.Vitamin D plays important role in calcium homeostasis and bone metabolism. However, the researches performed during the past twenty years revealed that it also has a significant immunomodulatory effect. D vitamin deficiency has been shown to be related to increased tendency for development of several autoimmune diseases such as type 1 diabetes and inflammatory bowel diseases. D vitamin deficiency has also been associated with increased risk of development of infections such as tuberculosis and malignancy. In experimental models, it has been found to be successful in reducing the risk of graft rejection. D vitamin has been found to have salutary effects on renal allograft function. The findings of the researches indicate that vitamin D might have a role as an alternative and safer treatment modality in many autoimmune diaseases and transplantation practice. Copyright © 2008 by Türkiye Klinikleri.Öğe ß2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system(Mosby Inc., 2015) Ardeniz Ö.; Unger S.; Onay H.; Ammann S.; Keck C.; Cianga C.; Gerçeker B.; Martin B.; Fuchs I.; Salzer U.; Ikincio?ullari A.; Gülo?lu D.; Dereli T.; Thimme R.; Ehl S.; Schwarz K.; Schmitt-Graeff A.; Cianga P.; Fisch P.; Warnatz K.Background Most patients with MHC class I (MHC-I) deficiency carry genetic defects in transporter associated with antigen processing 1 (TAP1) or TAP2. The clinical presentation can vary, and about half of the patients have severe skin disease. Previously, one report described ß2-microglobulin (ß2m) deficiency as another monogenetic cause of MHC-I deficiency, but no further immunologic evaluation was performed. Objective We sought to describe the molecular and immunologic features of ß2m deficiency in 2 Turkish siblings with new diagnoses. Methods Based on clinical and serologic findings, the genetic defect was detected by means of candidate gene analysis. The immunologic characterization comprises flow cytometry, ELISA, functional assays, and immunohistochemistry. Results Here we provide the first extensive clinical and immunologic description of ß2m deficiency in 2 siblings. The sister had recurrent respiratory tract infections and severe skin disease, whereas the brother was fairly asymptomatic but had bronchiectasis. Not only polymorphic MHC-I but also the related CD1a, CD1b, CD1c, and neonatal Fc receptor molecules were absent from the surfaces of ß2m-deficient cells. Absent neonatal Fc receptor surface expression led to low serum IgG and albumin levels in both siblings, whereas the heterozygous parents had normal results for all tested parameters except ß2m mRNA (B2M) expression. Similar to TAP deficiency in the absence of a regular CD8 T-cell compartment, CD8+ ?? T cells were strongly expanded. Natural killer cells were normal in number but not "licensed to kill." Conclusion The clinical presentation of patients with ß2m deficiency resembles that of patients with other forms of MHC-I deficiency, but because of the missing stabilizing effect of ß2m on other members of the MHC-I family, the immunologic defect is more extensive than in patients with TAP deficiency. © 2015 American Academy of Allergy, Asthma & Immunology.
