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Öğe Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium(Springer Heidelberg, 2022) Dündar, Munis; Fahrioğlu, Umut; Yıldız, Saliha Handan; Güngör, Burcu Bakır; Temel, Sehime Gülsün; Akın, Haluk; Tekeş, Selahaddin; Üzel, Veysiye Hülya; Em, SerdaFamilial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.Öğe Clinical characteristics and outcomes of cancer cases among syrian refugees from Southern Turkey(NLM (Medline), 2023) Kutluk, Tezer; Şahin, Berksoy; Kirazlı, Meral; Ahmed, Fahad; Aydın, Sinem; Çınkır, Havva Yeşil; Ebinç, Senar; Işıkdoğan, Abdurrahman; Ayyıldız, Mehmet Orhan; Üzel, Veysiye HülyaImportance: Cancer was a common noncommunicable disease in Syria before the present conflict and is now a major disease burden among 3.6 million Syrian refugees in Turkey. Data to inform health care practice are needed. Objective: To explore sociodemographic characteristics, clinical characteristics, and treatment outcomes of Syrian patients with cancer residing in the southern border provinces of Turkey hosting more than 50% of refugees. Design, Setting, and Participants: This was a retrospective hospital-based cross-sectional study. The study sample consisted of all adult and children Syrian refugees diagnosed and/or treated for cancer between January 1, 2011, and December 31, 2020, in hematology-oncology departments of 8 university hospitals in the Southern province of Turkey. Data were analyzed from May 1, 2022, to September 30, 2022. Main Outcomes and Measures: Demographic characteristics (date of birth, sex, and residence), date of first cancer-related symptom, date and place of diagnosis, disease status at first presentation, treatment modalities, date and status at last hospital visit, and date of death. The International Statistical Classification of Diseases and Related Health Problems, Tenth Revision and International Classification of Childhood Cancers, Third Edition, were used for the classification of cancer. The Surveillance, Epidemiology, and End Results system was applied for staging. The diagnostic interval was defined as the number of days from first symptoms until the diagnosis. Treatment abandonment was documented if the patient did not attend the clinic within 4 weeks of a prescribed appointment throughout the treatment. Results: A total of 1114 Syrian adult and 421 Syrian children with cancer were included. The median age at diagnosis was 48.2 (IQR, 34.2-59.4) years for adults and 5.7 (IQR, 3.1-10.7) years for children. The median diagnostic interval was 66 (IQR, 26.5-114.3) days for adults and 28 (IQR, 14.0-69.0) days for children. Breast cancer (154 [13.8%]), leukemia and multiple myeloma (147 [13.2%]), and lymphoma (141 [12.7%]) were common among adults, and leukemias (180 [42.8%]), lymphomas (66 [15.7%]), and central nervous system neoplasms (40 [9.5%]) were common among children. The median follow-up time was 37.5 (IQR, 32.6-42.3) months for adults and 25.4 (IQR, 20.9-29.9) months for children. The 5-year survival rate was 17.5% in adults and 29.7% in children. Conclusions and Relevance: Despite universal health coverage and investment in the health care system, low survival rates were reported in this study for both adults and children with cancer. These findings suggest that cancer care in refugees requires novel planning within national cancer control programs with global cooperation.Öğe COVID-19 infection in children with cancer and stem cell transplant recipients in Turkey: A nationwide study(John Wiley and Sons Inc, 2021) Kebudi, Rejin; Kurucu, Nilgün; Tuǧcu, Deniz; Hacisalihoǧlu, Şadan; Fışgın, Tunç; Ocak, Süheyla; Tokuç, Gülnur; Üzel, Veysiye HülyaTo the Editor: Adults with cancer are reported to have a higher risk for coronavirus disease (COVID-19) infection and more severe disease and mortality than the general population.1,2 Although children seem to be at a lower risk for COVID-19 than adults,3–5 data specifically addressing children with cancer are limited.Öğe Evaluation of 36 patients with rare factor deficiency(Bursa Uludağ University, 2021) Üzel, Veysiye Hülya; Yılmaz, Kamil; Öncel, Kahraman; Tekin, Suat; Söker, MuratIntroduction: Rare factor deficiencies are predominantly autosomal recessively inherited disorders with a frequency of approximately 1: 500000 to 1: 2000000 in the general population. They account for 3-5% of all inherited coagulation disorders. In this study, we aimed to evaluate the demographic features and clinical findings of 36 patients who were followed up and treated with the diagnosis of rare factor deficiency. Materials and Methods: A total of 36 patients aged between 0-16 years diagnosed with rare coagulation deficiencies were evaluated in terms of demographic, physical examination, clinical follow-up, and laboratory findings at the Dicle University Pediatric Hematology Unit. Ethics committee approval was obtained from Dicle University for the study on 16.03.2018 with decision no 115. Results: Rare factor deficiencies were diagnosed in 36 (35 %) of 103 patients who were followed up with coagulation disorders. Hemophilia a, hemophilia b, and von Willebrand disease constituted 67 of our patients. Familial consanguinity was present in 75, 6 %, and positive family history was found at 16.6% of the patients. 11 (32.4%) of our patients were diagnosed under the age of one year. Most of our patients diagnosed with factor X deficiency (38.8%). The most common symptoms were mucocutaneous bleeding (50%). Intracranial hemorrhage was detected in 7 (%19,5) patients. Conclusions: Early diagnosis and treatment are very important in the case of rare factor deficiency since severe bleeding complications such as intracranial hemorrhage may develop. Rare factor deficiencies are seen more frequently in places where consanguineous marriage is more common than the general population. Families should be informed about this issue, and family screening should be done early.Öğe Evaluation of anemia in children with down syndrome(Edizioni Minerva Medica, 2024) Üzel, Veysiye HülyaBacKGroUNd: anemia is one of the most common and important health problems in childhood. in children with a high neurodevelopmental risk, such as in the case of down Syndrome (dS), the negative effects of anemia (especially iron deficiency) may have a higher incidence. The aim of this study was to evaluate the frequency of anemia in children with dS who applied to our hospital. MethodS: the study retrospectively examined the records of 85 children with dS who were admitted to a pediatric outpatient clinic between January 2018 and december 2020. children without co-morbidities between the ages of 6 months and 18 years were included in the study. complete blood counts of the patients were retrospectively examined, and the incidence of anemia was determined according to age and sex. hemoglobin concentration less than 2 Sd for the norm age was defined as anemia. reSUltS: the mean age of the children was 71.3±50.9 months (range: 10-207); furthermore, 48.2% (N.=41) were female and 51.8% (N.=44) were male. anemia was detected in 22.4% (N.=19) of the cases, while anemia was not detected in 77.6% (N.=66). the mean age of children with anemia was 51.5±42.7 years (10 months-144 months). there was no significant difference between those with and without anemia in terms of age and sex. Anemia was found to be more common in the 6-month-2 age group (36%). coNclUSioNS: in this study, it was seen that most children with anemia had dea. anemia must be promptly diagnosed, especially in 6-month/2-year-old children, in a period in which neuromotor development largely occurs. in conclusion, children with dS who are admitted to the hospital for any reason should be evaluated for anemia and treated early, especially if they have iron deficiency anemia, and all children under 1 year of age should be given iron prophylaxis. © 2023 edizioNi MiNerVa Medica.Öğe Evaluation of hematological parameters of children diagnosed with COVID-19: Single-center experience(Turkish Pediatric Association, 2021) Üzel, Veysiye Hülya; Yılmaz, Kamil; Şen, Velat; Aktar, Fesih; Karabel, Müsemma; Yolbaş, İlyas; Pirinççioğlu, Ayfer Gözü; Söker, MuratObjective: Although many pediatric studies on children infected with coronavirus disease 2019 (COVID-19) have been published, the diagnosis, clinical symptoms, laboratory findings, and treatment of COVID-19 in children are still unclear. Materials and Methods: This study was conducted with an aim to examine the hematological findings of symptomatic pediatric patients diagnosed with COVID-19 in May 2020 at the Pandemic Hospital in Dicle University. Patient records were evaluated retrospectively. This study involved 59 symptomatic pediatric patients with a definite diagnosis of COVID-19 who had positive SARS-CoV-2 RT-PCR test results on nasopharyngeal swab between March 15, 2020 and May 31, 2020. Results: The records of a total of 10 (16.9%) patients under the age of 1; 21 (35.6%) patients aged 1-10 years, and, 28 (47.5%) patients aged 10-18 years, who had been diagnosed with COVID-19 were evaluated. Based on severity, 35 (59.3%) patients were in the mild group (group 1) and 24 (40.7%) patients were in the moderate-severe group (group 2). The blood parameters of WBC, neutrophil, lymphocyte, monocyte, and thrombocyte counts, the hemoglobin (Hgb) level, and NLR, PLR, MPV, fibrinogen, ferritin, and D-dimer levels were compared between groups, the difference was not statistically significant (P > .05). LDH was higher in group 2 (P = .014). Conclusion: Since children infected with COVID-19 show mild clinical symptoms or are asymptomatic, fewer pediatric patients may be detected than adults. Therefore, it should be known that the laboratory findings typical for adults may not accompany the disease in pediatric cases. More studies are needed to determine the most appropriate COVID-19 treatment approach for children, as hospitalization history and testing rates are less reported among children.Öğe Evaluation of parafoveal and peripapillary vascular densities using optical coherence tomography angiography in children with thalassemia major(SAGE Publications Ltd., 2023) Dursun, Mehmet Emin; Hazar, Leyla; Karahan, Mine; Erdem, Seyfettin; Ava, Sedat; Üzel, Veysiye Hülya; Dursun, Birgül; Keklikçi, UğurBackground: Thalassemia major (TM) is an inherited anaemia caused by faulty haemoglobin synthesis. Reducing serum iron levels using iron chelating agents is an important step in the treatment of TM, and the effects on the eye of both the disease and these agents can be determined by regular eye examination. Objectives: We evaluated macular and optic nerve vascular densities in children with TM and compared the results with healthy controls using optical coherence tomography angiography (OCTA). Design: This is a prospective study. Methods: A total of 30 children with TM and 30 healthy controls were included in the study. The area of the foveal avascular zone (FAZ) and the vascular densities (VD) of the optic nerve head (ONH), radial peripapillary capillary (RPC) and deep and superficial retinal vascular networks were measured using OCTA. Results: A statistically significant decrease in VD was observed in the whole image and the parafovea, superior hemi, superior and inferior parts of the superficial capillary plexus and in the whole image and the superior regions of the deep capillary plexus in the TM patient group compared with the control group (p < 0.05). A significant decrease in VD was also observed in the whole image and the inside disc, peripapillary, nasal, inferonasal and temporal regions of the ONH and in the whole image and the inside disc, peripapillary and inferonasal regions of the RPC network in patients with TM (p < 0.05). A significant positive correlation was observed between both serum ferritin levels and deferasirox dosage, on one hand, and both the superficial (p = 0.023 and p = 0.002, respectively) and deep FAZs (p = 0.015 and p = 0.045, respectively), on the other hand. A negative correlation was also found between the deferasirox dosage and the VDs of the superficial (p = 0.010) and deep (p = 0.001) foveal plexuses. Conclusion: Retinal VD and FAZ are affected in patients with TM. OCTA, which can noninvasively measure retinal VD in patients with TM, may be a useful tool for the early detection of retinal microvascular changes that may occur during the course of the disease.Öğe Evaluation of retinal nerve fiber layer and choroidal thickness with spectral domain optical coherence tomography in children with sickle cell anemia(Turkish National Pediatric Society, 2021) Yılmaz, Kamil; Öncül, Hasan; Üzel, Veysiye Hülya; Söker, Murat; Öncel, Kahraman; Yılmaz, Engin DenizBackground. The aim of this study is to examine the thickness of choroidal, macular and peripapillary retinal nerve fiber layer by spectral-domain optical coherence tomography (SD-OCT) in pediatric patients with sickle cell anemia (SCA) without retinopathy. Methods. A total of 75 children (30 SCA patients (Group 1) and 45 healthy individuals (Group 2) were included in the study. Macular (central, superior, inferior, nasal, temporal), choroidal (subfoveal, at nasal distances from the central fovea of 1000 μm [N1], 2000 μm [N2], 3000 μm [N3], at temporal distances from the central fovea of 1000 μm [T1], 2000 μm [T2], 3000 μm [T3]) and RNFL (average, temporal, superotemporal, inferotemporal, nasal, inferonasal and superonasal) measurements were performed by SD-OCT. These parameters were compared with healthy children with similar demographic characteristics. Results. The mean age was 14.11±3.86 (11-18) in sickle cell anemia patients and 13.15± 2.69 (10-18) in the healthy control group. Of the patients, 56.6% (n=17) of Group 1 and 44.4% (n=20) of Group 2 were male. Choroidal measurements made in the subfoveal, N1, N2, N3, T1, T2 and T3 quadrants showed that the choroid was thinner in 6 quadrants in SCA patients compared to the healthy group (p = 0.003, p = 0.039, p = 0.035, p = 0.595, p = 0.006, p = 0.005, p = 0.047, respectively). In RNFL measurements, there was significant thinning in the temporal, inferotemporal, and nasal quadrants of SCA patients compared to the healthy group. Changes in other quadrants were not significant. Conclusions. SD-OCT is a useful imaging method in the diagnosis and screening in patients with SCA without retinopathy. Early diagnosis of retinopathy during subclinical disease will prevent visual loss in these patients.Öğe Steroid tedavisi alan lösemi hastasında kan şeker yüksekliği ile tanı alan MODY tip 2 olgusu(Çocuk Endokrinolojisi ve Diyabet Derneği, 2016) Yıldırım, Ruken; Ünal, Edip; Üzel, Veysiye Hülya; Haspolat, Yusuf KenanMaturity-Onset Diabetes of Young (MODY), otozomal dominant geçiş gösteren beta hücre defekti ve insülin salgısında bozuklukla giden bir hastalıktır ve tüm diyabetli olguların yaklaşık %1-2'sini oluşturmaktadır. MODY tip 2; klinik olarak osmotik semptomlar olmaksızın hafif açlık hiperglisemisi ile seyretmektedir. Tanı tesadüfen konur.Öğe Thrombocytopenia developing after centipede bite(Çocuk Acil Tıp ve Yoğun Bakım Derneği, 2022) Üzel, Veysiye Hülya; Bilici, Meki; Doğan, Rıdvan; Yılmaz, Kamil; Orhan, ÖzhanCentipede bites have been reported rarely in humans. The mechanism of centipede toxin is not fully understood. Skin reactions develop more in centipede bites. In this text, we will present a case that developed thrombocytopenia after a centipede bite. An 18-month old female infant was bitten on the back of the right hand and the right side of the forehead. She applied to the emergency department with the complaint of redness and swelling that started in the morning hours after the bite. The vital signs of the patient were stable. The patient had no systemic complaints. The patient's laboratory tests, PLT was 28,000 K/UL were determined. During follow-up of the patient, bleeding symptoms developed associated with thrombocytopenia. The follow-up examination 10 days later, thrombocyte count was determined as 302,000 in the full blood count. Centipede bites are not greatly reported and the actual incidence is undoubtedly higher than assumed. Although the majority spontaneously recover with only simple local reactions that have formed, they can lead to serious complications such as acute myocardial infarcts, acute coronary ischemia, acute renal damage, anaphylaxis, or thrombocytopenia. Therefore, following a centipede bite, patients must be evaluated carefully and attention must be paid in respect of complications.
