Tıp Fakültesi / Faculty of Medicine
Permanent URI for this collectionhttps://hdl.handle.net/11727/1403
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Item Identifying future risk factors of uncontrolled asthma control: the TAAR study perspective(Başkent Üniversitesi Tıp Fakültesi, 2025) Erdogan, Tuba; 41305966Objective: Risk factors associated with asthma symptom control is crucial for disease management. This study aimed to determine the risk factors of patients with uncontrolled asthma and to examine the relationship with their geographical patterns. Methods: This cross-sectional study was conducted at 36 centers across Turkey. Future risk factors (FRFs) such as exposure to triggers/allergens and inadequate or poor inhalation technique, etc., were identified based on the Global Initiative for Asthma (GINA) guidelines. The associations between FRFs and demographic and clinical characteristics, geographical regions, and levels of asthma control were analyzed. Results: The study included 2,053 adult asthma patients. At least one FRF was identified in 1576(76.8%) patients. The most common FRFs were exposure to allergens/triggers (n: 664; 32.3%), impaired asthma symptom control (n: 540; 26.3%), and eosinophilia (n: 526; 25.6%). Regarding regional differences, the most prevalent FRFs in the Marmara region were exposure to allergens/triggers and frequent use of short-acting beta-2 agonists (>3 boxes/year). In contrast, eosinophilia was more common in the Southeastern region, while inadequate or poor inhalation technique, noncompliance with treatment, and psychosocial or socioeconomic problems were more frequently observed in the Eastern Anatolia region. Asthma control was achieved in 79.5% of patients without any FRFs; however, this rate decreased significantly to 25% among patients with more than four FRFs. Conclusions: This study demonstrates that FRFs in asthma vary according to demographic and disease characteristics, as well as geographical distribution. An increased number of FRFs was associated with asthma control. However, an individualized approach remains essential for achieving optimal asthma management.Item Efficacy of Abatacept Treatment in A Patient with Enteropathy Carrying A Variant of Unsignificance in CTLA4 Gene: A Case Report(2023) Musabak, Ugur; Erdogan, Tuba; Ceylaner, Serdar; Ozbek, Emre; Suna, Nuretdin; Ozdemir, Binnaz Handan; 37731560; KBC-3218-2024BACKGROUNDCytotoxic T Lymphocyte Antigen-4 (CTLA4) deficiency is a genetic defect that causes a common variable immunodeficiency (CVID) clinical phenotype. Several studies have reported an association between CTLA mutations or variants and various autoimmune diseases. Targeted therapy models, which have become increasingly popular in recent years, have been successful in treating CTLA4 deficiency. In this article, we discuss the clinical outcomes of abatacept treatment in a patient with CTLA4 and lipopolysaccharide-responsive beige-like anchor (LRBA) variants that was previously diagnosed with CVID.CASE SUMMARYA 25-year-old female patient, who was visibly cachectic, visited our clinic over the course of five years, complaining of diarrhea. The patient was diagnosed with ulcerative colitis in the centers she had visited previously, and various treatments were administered; however, clinical improvement could not be achieved. Severe hypokalemia was detected during an examination. Her serum immunoglobulin levels, CD19+ B-cell percentage, and CD4/CD8 ratio were low. An endoscopic examination revealed erosive gastritis, nodular duodenitis, and pancolitis. Histopathological findings supported the presence of immune mediated enteropathy. When the patient was examined carefully, she was diagnosed with CVID, and intravenous immunoglobulin treatment was initiated. Peroral and rectal therapeutic drugs including steroid therapy episodes were administered to treat the immune mediated enteropathy. Strict follow-ups and treatment were performed due to the hypokalemia. After conducting genetic analyses, the CTLA4 and LRBA variants were identified and abatacept treatment was initiated. With targeted therapy, the patient's clinical and laboratory findings rapidly regressed, and there was an increase in weight.CONCLUSIONThe heterozygous CTLA4 variant identified in the patient has been previously shown to be associated with various autoimmune diseases. The successful clinical outcome of abatacept treatment in this patient supports the idea that this variant plays a role in the immunopathogenesis of the disease. In the presence of severe disease, abatacept therapy should be considered until further testing can be conducted.Item Relationship Between Asthma and IL-17 Gene Polymorphism in A Turkish Population(2023) Yuce, Gulbahar Darilmaz; Erdogan, Tuba; Bozkurt, Bulent; Toprak, Ugur; Ceylan, Gulay Gulec; https://orcid.org/0000-0002-3143-2442; https://orcid.org/0000-0002-2949-9189; 35325374; JBS-4193-2023; ABH-5354-2020; AAL-3180-2021Background Asthma is a prevalent chronic obstructive disease of the airways. Aims The aim of our study was to investigate the relationship between asthma and IL-17F gene 74488 T > C, IL-17A gene -197G > A, and IL17A gene -737C > T polymorphisms in Turkish population. Methods In our study, peripheral blood samples collected from a total of 127 subjects, with 65 in the patient group and 62 in the control group, were analyzed for IL-17F gene 74488 T > C, IL-17A gene -197G > A, and IL17A gene -737C > T polymorphisms using next-generation sequencing. Results There was no statistically significant relationship between IL-17A gene -197G > A and IL-17A gene -737C > T polymorphisms and the risk of developing asthma. It was found that the risk of developing asthma was 2.9-fold higher in individuals with a C allele in the IL-17F gene 7488 T > C polymorphic site than the individuals with a T allele. It was shown that ATT and GCT haplotype carriers had a greater disease risk compared with the GTT haplotype carriers. Conclusions In conclusion, IL-17F gene 7488 T > C polymorphism was found to be associated with asthma in the Turkish population. The IL-17 gene should be further investigated as a potential candidate gene in predicting asthma susceptibility and in the treatment of asthma.Item A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features(2022) Musabak, Ugur; Ceylaner, Serdar; Erdogan, Tuba; Ayva, Ebru Sebnem; 0000-0003-1511-7634; 35833092; AAU-1810-2020Hypogammaglobulinemias, based on inborn errors of immunity, are primary immunodeficiencies (PIDs) that can also be diagnosed for the first time in adulthood. Common variable immunodeficiency (CVID) is a multifactorial disease often symptomatic due to antibody deficiency. In addition, some PIDs are classified into the category of immunodeficiencies with syndromic features due to their accompanying clinical findings unrelated to immunity. In this article, a patient with CVID who was diagnosed in adulthood and who was revealed to have a mutation specific to Rubinstein-Taybi syndrome and clinical features reminiscent of this syndrome only after molecular tests was presented.Item Pemphigus vulgaris in a patient with primary hypogammaglobulinemia: A case report(2022) Musabak, Ugur Haci; Erdogan, Tuba; Tunca, Mustafa; 0000-0002-3143-2442; ABH-5354-2020Pemphigus vulgaris (PV) is a rare autoimmune disorder characterized by blisters on the mucous membranes and skin. Autoimmunity is an important complication developing in predominantly antibody deficiencies, which is a subgroup of primary immunodeficiencies (PID). Herein, we present a patient with PV who had primary antibody deficiency and whose disease relapsed during the maintenance period of conventional immunosuppressive treatments but progressed to remission following high-dose intravenous immunoglobulin therapy. Thus, we aimed to create awareness for the study of primary immunodeficiencies in rare autoimmune bullous diseases.Item Clinical features and immunoglobulin replacement therapy outcomes of adults with common variable immunodeficiency: a single centre experience(2021) Musabak, Ugur; Erdogan, Tuba; 0000-0002-3143-2442; 34022776; ABH-5354-2020Background/aim: Common variable immunodeficiency (CVID) characterized by defective immunoglobulin production is the most prevalent form of symptomatic primary immunodeficiency (PID) in adults. We aimed to reveal the clinical features of adults with CVID and to evaluate the effects of immunoglobulin replacement treatment (IRT) on hemato-immunological findings. Materials and methods: This study included 26 adult patients receiving IRT. Two measurements of complete blood counts and major immunoglobulin levels obtained at the beginning-end of follow up period were used for comparisons. Lymphocyte subsets and B-cell subgroups were measured only at the time of presentation. Results: The most common complications were related to respiratory and digestive systems and organomegaly. Chronic diarrhoea and low body weight were positively correlated with the percentage of CD8(+) T cells (p = 0.019 and p = 0.003, respectively) but negatively correlated with the CD4/CD8 ratio and the percentage of CD19(+) B cells (p = 0.019 and p = 0.005 for both parameters, respectively). At the end of period, the distribution of haematological parameters significantly improved, and immunoglobulin M (IgM) level increased to detectable levels (p = 0.035). Conclusions: There are apparent relationships among chronic diarrhoea and low body weight, and deterioration of T and B cell immunity in adults with CVID. IRT improves the whole blood parameters and stimulates immunoglobulin M (IgM) production. The later effect supports the immunomodulatory feature of this therapy.