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Öğe CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation(Elsevier Inc, 2017) Karti O.; Abali S.; Ayhan Z.; Gokmeydan E.; Nalcaci S.; Yaman A.; Saatci A.O.Purpose: CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal-recessive entity characterized by congenital sparse scalp hair and macular dystrophy, leading to severe central visual loss. We report a family with HJMD caused by a novel CDH3 gene mutation and review the mutation spectrum in HJMD. A detailed phenotypic assessment for patients whose molecular results were reported previously is also summarized. Observations: We present a 13-year-old Turkish girl who experienced gradual bilateral visual deterioration with marked hair loss. Hair-pull test results and scalp skin texture were normal. The eyebrows and eyelashes were normal, and no abnormality in the teeth, nails, or limbs was detected. Fundus examination revealed bilateral ring-shaped atrophy of the retinal pigment epithelium with patchy intraretinal pigment clumping at the posterior pole. DNA sequencing analysis detected a novel homozygous deletion (c.447_467del (p.149_156del)) in exon 5 of the CDH3 gene of the patient. Both healthy parents and an older brother were heterozygous for the mutation. Conclusions and importance: This case of HJMD was related to a novel homozygous mutation, termed c.447_467del (p.149_156del). These findings have significance for the future mutational analysis and genetic counseling of families with HJMD, particularly in our region. The presence of sparse hair in childhood, with or without limb anomalies, should alert clinicians to request an eye consultation. Pediatricians, dermatologists, and ophthalmologists should be aware of the rarely seen entity of juvenile macular dystrophy with hypotrichosis. © 2017 The AuthorsÖğe Characteristics of optic neuropathy in Behçet disease(Lippincott Williams and Wilkins, 2018) Akdal G.; Toydemir H.E.; Saatci A.O.; Uygunoglu U.; Altunrende B.; Saip S.; Yaman A.; Keskino P.; Yılmaz S.G.; Çelebisoy N.; Bajin M.S.; Siva A.; Akman-Demir G.Objective: We present the clinical profile, features, and neuroimaging findings of 25 patients with Behçet disease (BD), and optic neuropathy (ON), which has been rarely reported in BD. Methods: Data from 5 university hospitals were retrospectively reviewed, and patients with BD and ON were evaluated. There were 2 groups: (1) those already diagnosed with BD when ON developed (BD›ON group) and (2) those diagnosed with BD during the evaluation of ON (ON›BD group). Results: There were 25 BD patients with ON (13 males). Among these, 13 had ON›BD, and 12 had BD›ON. Seventeen patients had unilateral ON, and 7 patients had recurrent ON. BD›ON patients were older. Disc edema was seen more in ON›BD than in BD›ON patients (10 vs 3). Fourteen patients also had uveitis, 7 with BD›ON and 7 with ON›BD. There was other neurologic involvement in 8 patients; in the BD›ON group, 4/4 had MS-like disease, in the ON›BD group, 3 had typical parenchymal BD, and 1 had MS-like disease. Twenty of 21 patients received immunosuppressive medications, corticosteroids, or both. Prognosis was favorable in most: vision improved in 20 patients, more often in those receiving combined therapies. Conclusion: BD may be diagnosed earlier if it is considered and investigated during the assessment of ON, particularly in high-risk regions. Prognosis of ON related to BD seems to be favorable. Immunosuppressants should be given along with corticosteroids. MS-like presentations should also be kept in mind in patients with BD and ON. Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.Öğe Corrigendum to 'Genetic diversity and major spoligotype families of drug-resistant Mycobacterium tuberculosis clinical isolates from different regions of Turkey' [Inf. Gen. Evol. 7 (2007) 513-519] (DOI:10.1016/j.meegid.2007.03.003)(2008) Durmaz R.; Zozio T.; Gunal S.; Yaman A.; Cavusoglu C.; Guney C.; Sola C.; Rastogi N.[No abstract available]Öğe Health beliefs of nursing faculty students about breast cancer and self breast examination(Asian Pacific Organization for Cancer Prevention, 2015) Ardahan M.; Dinc H.; Yaman A.; Aykir E.; Aslan B.Background: Breast cancer usually shows a slow development rate and when it is recognized in early stages very successful treatment results can be achieved. This research was planned to research the health beliefs of nursing faculty students about breast cancer and breast self-examination (BSE). Materials and Methods: The first class students of nursing faculty formed the basis for this descriptive research (N=347). Sample selection was not made and all female students who wanted to participate voluntarily in the research during March-May of 2014 were included (n=331). Results: It was determined that 85.5% of students had knowledge about cancer, 79.5 % knew of breast cancer, and 65.3% were aware of how BSE is performed. According to the responses of students to the scale of the health belief model that is used to determine the health beliefs of students, item-point averages of trust and obstacle sub-dimensions were high. Conclusions: It is determined that more than half of students had knowledge about breast cancer and breast self-examination. Their health beliefs were affected by trust and obstacle perceptions, knowledge level about cancer, and awareness about how BSE is done. These factors should be considered in planning trainings that will be given to students. Social responsibility projects should have designed to create the awareness that cancer is a treatable disease.Öğe In vitro susceptibility of respiratory isolates of Streptococcus pneumoniae and Streptococcus pyogenes to telithromycin and 11 other antimicrobial agents: Turkish results of e-BASKETT-II surveillance study [Solunum yolu enfeksi·yonu etkenleri· Streptococcus pneumoniae ve Streptococcus pyogenes'i·n teli·tromi·si·n ve 11 anti·mi·krobi·k i·laca i·n vi·tro duyarliligi: E-BASKETT-II sürveyans çalişmasinin türki·ye sonuçlari](2007) Gür D.; Mülazimoglu L.; Ünal S.; Balik I.; Azap A.; Öztürk R.; Yilmaz M.; Yaman A.; Saltoglu N.; Ayaz C.; Çakir N.; Yüce A.; Özinel Ma.; Sümerkan B.; Arslan H.; Arman D.; Zarakolu P.; Ersoy Y.; Firat M.; Eraksoy H.; Çagatay A.; Köksal I.; Çaylan R.; Vahaboglu H.; Willke A.; Korten V.; Leblebicioglu H.; Günaydin M.; Usluer G.; Özgüneş I.; Gedikoglu S.; Özakin C.In respiratory tract infections, therapy is often empirical and there is a need for local data on the rate of resistance to available antimicrobials. In this multicentre study which is a part of the international e-BASKETT-II surveillance study, respiratory isolates of Streptococcus pneumoniae (n=260) and Streptococcus pyogenes (n=312) collected between September 2002 and June 2003 from 18 hospitals in Turkey were tested against penicillin G, amoxicillin, cefuroxime, ceftriaxone, erythromycin, clarithromycin, azithromycin, clindamycin, telithromycin, tetracycline, levofloxacin and vancomycin. Antibiotic susceptibilities were determined with disk diffusion method and confirmed with broth dilution method following the CLSI guidelines. Isolates which were resistant to erythromycin were genotyped by polymerase chain reaction. In S.pneumoniae 11.5% of the isolates were highly and 22.7% were intermediately resistant to penicillin. Rate of resistance to erythromycin, clarithromycin, azithromycin was 17.3%, and 21.5% of the isolates were resistant to tetracycline. Resistance to levofloxacin and vancomycin was not observed and only one isolate was found intermediately resistant (MIC=2µg/mL) to telithromycin. Genotypes in erythromycin-resistant isolates were ermB (77.8%), mefA (17.8%) and ermB+mefA (2.2%). S.pyogenes isolates were uniformly susceptible to beta-lactams and vancomycin, and only one isolate was intermediately resistant to levofloxacin. Macrolide resistance was observed in 1.3% of the isolates and three out of these harboured the mefA gene. One isolate with an MIC of 4µg/mL for telithromycin had ermB gene. Telithromycin has demonstrated a good in vitro activity against macrolide-resistant respiratory tract isolates. As a result, e-BASKETT-II surveillance study has been one of the most extensive in vitro studies comparing telithromycin to available antimicrobial agents for respiratory tract infections in Turkey.Öğe LIMPRINT study: The Turkish experience(Mary Ann Liebert Inc., 2019) Borman P.; Moffatt C.; Murray S.; Yaman A.; Denizli M.; Dalyan M.; Unsal-Delialioglu S.; Eyigör S.; Ayhan F.; Çaklt B.D.; Vural S.; Özdemir O.; Kurt E.; Çelik E.C.; Cerrahoglu L.; Kepekçi M.; Terzioglu F.; Donmez A.A.Background: Lymphedema and chronic edema is a major health care problem in both developed and nondeveloped countries The Lymphoedema Impact and Prevelance-International (LIMPRINT) study is an international health service-based study to determine the prevalence and functional impact in adult populations of member countries of the International Lymphoedema Framework (ILF). Methods and Results: A total of 1051 patients from eight centers in Turkey were recruited using the LIMPRINT study protocol. Data were collected using the core and module tools that assess the demographic and clinical properties as well as disability and quality of life (QoL). Most of the Turkish patients were recruited from specialist lymphedema services and were found to be women, housewives, and having secondary lymphedema because of cancer treatment. The duration of lymphedema was commonly <5 years and most of them had International Society of Lymphology (ISL) grade 2 lymphedema. Cellulitis, infection, and wounds were uncommon. The majority of patients did not get any treatment or advice before. Most of the patients had impaired QoL and decreased functionality, but psychological support was neglected. Although most had social health security access to lymphedema centers, nevertheless access seemed difficult because of distance and cost. Conclusion: The study has shown the current status and characteristics of lymphedema patients, treatment conditions, the unmet need for the diagnosis and treatment, as well as burden of the disease in both patients and families in Turkey. National health policies are needed for the prevention, diagnosis, and treatment in Turkey that utilize this informative data. © Pinar Borman et al. 2019; Published by Mary Ann Liebert, Inc. 2019.Öğe Pseudotumor cerebri syndrome without cerebral venous sinus thrombosis in Behçet's disease(Elsevier B.V., 2017) Akdal G.; Yaman A.; Men S.; Çelebisoy N.; Toydemir H.E.; Bajin M.S.; Akman-Demir G.[No abstract available]Öğe Serotype distribution of Streptococcus pneumoniae in children with invasive diseases in Turkey: 2008–2014(Taylor and Francis Inc., 2016) Ceyhan M.; Ozsurekci Y.; Gürler N.; Öksüz L.; Aydemir S.; Ozkan S.; Yuksekkaya S.; Keser Emiroglu M.; Gültekin M.; Yaman A.; Kiremitci A.; Yanık K.; Karli A.; Ozcinar H.; Aydin F.; Bayramoglu G.; Zer Y.; Gulay Z.; Gayyurhan E.D.; Gül M.; Özakın C.; Güdücüoğlu H.; Perçin D.; Akpolat N.; Ozturk C.; Camcıoğlu Y.; Karadağ Öncel E.; Çelik M.; Şanal L.; Uslu H.Successful vaccination policies for protection from invasive pneumococcal diseases (IPD) dependent on determination of the exact serotype distribution in each country. We aimed to identify serotypes of pneumococcal strains causing IPD in children in Turkey and emphasize the change in the serotypes before and after vaccination with 7-valent pneumococcal conjugate vaccine (PCV-7) was included and PCV-13 was newly changed in Turkish National Immunization Program. Streptococcus pneumoniae strains were isolated at 22 different hospitals of Turkey, which provide healthcare services to approximately 65% of the Turkish population. Of the 335 diagnosed cases with S. pneumoniae over the whole period of 2008–2014, the most common vaccine serotypes were 19F (15.8%), 6B (5.9%), 14 (5.9%), and 3 (5.9%). During the first 5 y of age, which is the target population for vaccination, the potential serotype coverage ranged from 57.5 % to 36.8%, from 65.0% to 44.7%, and from 77.4% to 60.5% for PCV-7, PCV-10, and PCV-13 in 2008–2014, respectively. The ratio of non-vaccine serotypes was 27.2% in 2008–2010 whereas was 37.6% in 2011–2014 (p=0.045). S. penumoniae serotypes was less non-susceptible to penicillin as compared to our previous results (33.7 vs 16.5 %, p=0.001). The reduction of those serotype coverage in years may be attributed to increasing vaccinated children in Turkey and the increasing non-vaccine serotype may be explained by serotype replacement. Our ongoing IPD surveillance is a significant source of information for the decision-making processes on pneumococcal vaccination. © 2016 Taylor & Francis Group, LLC.Öğe Serotypes of Streptococcus pneumoniae isolates from children with invasive pneumococcal disease in Turkey: Baseline evaluation of the introduction of the pneumococcal conjugate vaccine nationwide(2011) Ceyhan M.; Gurler N.; Yaman A.; Ozturk C.; Oksuz L.; Ozkan S.; Keser M.; Salman N.; Alhan E.; Esel D.; Gultekin M.; Camcioglu Y.; Gul M.; Sorguc Y.; Aydemir S.; Gunaydin M.; Yakupogullari Y.; Kizirgil A.Before use of the pneumococcal conjugate vaccine PCV7 became widespread in Turkey, 202 invasive pneumococcus isolates were analyzed. The most common serotypes were 19F and 6B. In children ?2 years of age, the potential coverage rate of PCV7 was 69.5%. The most frequent non-PCV7 serotypes were 19A, 3, 1, 6A, and 8. Copyright © 2011, American Society for Microbiology. All Rights Reserved.Öğe Susceptibility of bacterial isolates from Turkey - A report from the meropenem yearly susceptibility test information collection (MYSTIC) program(E.S.I.F.T. srl, 2007) Eraksoy H.; Basustaoglu A.; Korten V.; Kurt H.; Ozturk R.; Ulusoy S.; Yaman A.; Yuce A.; Zarakolu P.The study monitored the susceptibility of nosocomial pathogens to meropenem and comparator antimicrobial agents isolated as part of the Meropenem Yearly Susceptibility Test Information Collection (MYSTIC) Program from Turkish university hospitals. In terms of minimum inhibitory concentration 90% (MIC 90) values, meropenem was two- and eight-fold more active than imipenem against Escherichia coli and Klebsiella pneumoniae, respectively. 40.5% of K. pneumoniae, 23.1% of Klebsiella oxytoca and 15.3% of E. coli isolates were extended-spectrum ß-lactamase (ESBL) producers. Piperacillin/ tazobactam was the most active agent against isolates of Pseudomonas aeruginosa, followed by meropenem and imipenem. Against Acinetobacter baumannii isolates, meropenem and imipenem were the most active agents. Continued surveillance by the MYSTIC Program appears to be prudent to help focus on effective empiric treatment regimens. © E.S.I.F.T. srl.