Objective: Chronic myeloid leukemia (CML) is a clonal hematologic disorder characterized by t(9;2... more Objective: Chronic myeloid leukemia (CML) is a clonal hematologic disorder characterized by t(9;22) translocation, in which cytogenetic aberrations can occur in Ph(+) and (-) clones. These aberrations develop due to clonal evolution as well as treatment and they have prognostic significance. They are grouped as major and minor route anomalies in terms of their effects on prognostic parameters, such as treatment response, overall survival (OS), disease stage, complete cytogenetic response (CCyR), and major molecular response (MMR). It is stated that major route anomalies have unfavorable prognostic effects compared to minor route anomalies. We aimed to investigate the frequency and prognostic effects of cytogenetic anomalies detected in Ph(+) and (-) clones. Materials and Methods: In this study, we retrospectively analyzed the cytogenetic results of 450 patients diagnosed with CML between 2005 and 2020. Results: We detected cytogenetic aberrations in Ph-positive and negative clones in 41 of 450 patients. The most common anomalies were trisomy 8 (+8), additional Ph chromosome (+Ph), and loss of chromosome Y. Rarely, aneuploidy of the Y chromosome, dup (22), +11, and +6 were seen in CML patients. We observed that these identified aberrations negatively affected MMR and CCyR, and generally resulted in changing imatinib treatment for second-generation tyrosine kinase activity inhibitors. Our results are compatible with the literature. Amaç: Kronik myeloid lösemi (KML), t(9;22) ile karakterize olan, Ph(+) ve (-) klonlarda sitogenetik aberasyonların gelişebildiği bir lösemi tipi olarak bilinmektedir. Bu aberasyonlar klonal evolüsyon ve tedaviye bağlı gelişmekte olup, prognostik etkileri olduğu bilinmektedir. Literatürde; tedavi yanıtı, toplam sağkalım (OS), hastalık evresi, tam sitogenetik yanıt (TSY) ve majör moleküler yanıt (MMY) gibi prognostik parametreler üzerine olan etkileri açısından bu anomaliler majör ve minör yolak anomalileri olarak gruplandırılmaktadır. Majör yolak anomalilerinin minör yolak anomalilerine göre prognozu olumsuz yönde etkilediği belirtilmektedir. Biz de, Ph(+) ve (-) klonda saptanan sitogenetik anomalilerin sıklığını ve prognostik etkisini araştırmayı amaçladık. Gereç ve Yöntemler: Bu çalışmada, 2005-2020 yılları arasında KML tanısı almış 450 hastanın retrospektif olarak sitogenetik sonuçlarını inceledik. Bulgular: Bu hastaların 41/450' inde Ph(+) ve/veya (-) klonda sitogenetik aberasyonlar saptadık. En sık gözlenen anomaliler trizomi 8 (+8), ek Ph kromozomu (+Ph) ve Y kromozom kaybı idi. Ayrıca KML hastalarında nadir görülen dup (22), +11, +6 ve Y kromozom artışı; ve daha önce literatürde saptanmayan inv(1) anomalisini tespit ettik. Saptanan bu aberasyonların MMY ve TSY olumsuz etkilediğini ve tedavide de genellikle 2. nesil tirozin kinaz aktivite inhibitörlerin tercih edildiğini gözledik. Elde ettiğimiz sonuçlar, literatür verileri ile uyumluluk göstermektedir.
Deletion 13q [del(13q)] is a favorable prognostic marker if it is detected as a sole abnormality ... more Deletion 13q [del(13q)] is a favorable prognostic marker if it is detected as a sole abnormality in chronic lymphocytic leukemia (CLL). However the clinical courses of cases with isolated del(13q) are quite heterogeneous. In our study, we investigated copy number variations (CNVs), loss of heterozygosity (LOH), and the size of del(13q) in 30 CLL patients with isolated del(13q). We used CGH+SNP microarrays in order to understand the cause of this clinical heterogeneity. We detected del(13q) in 28/30 CLL cases. The size of the deletion varied from 0.34 to 28.81 Mb, and there was no clinical effect of the deletion size. We found new prognostic markers, especially the gain of 16p13.3. These markers have statistically significant associations with short time to first treatment and advanced disease stage. Detecting both CNVs and LOH at the same time is an advantageous feature of aCGH+SNP. However, it is very challenging for the array analysis to detect mosaic anomalies. Therefore, it is v...
This study was conducted to determine the levels of social media use disorder among the first, se... more This study was conducted to determine the levels of social media use disorder among the first, second and third grade students of the medical faculty and evaluate some variables that are thought to be related and to determine the levels of loneliness.The study is a cross-sectional study conducted on the first, second and third year students of Eskişehir Osmangazi University Faculty of Medicine in the 2018-2019 academic year. In this study, the minimum number of students to be reached was determined as at least 384 people, when the frequency of social media use was 50%, the margin of error was 5%, and the confidence level was 95%. The study group was formed by 422 internet users. A questionnaire including some sociodemographic characteristics of students, variables thought to be associated with social media use disorder, Social Media Use Disorder Scale and UCLA Loneliness Scale Short Form were used to collect data. Mann Whitney U test, Kruskal Wallis analysis, Spearman correlation analysis and multiple linear regression analysis were used for analysis.The mean age of the students participating in the study was 19.78±1.33 and 46.4% were female students. The scores of the students on the Social Media Use Disorder Scale range from 0 to 63, with a mean score of 12.19±10.36 (median: 9.0 points). The level of social media use disorder was found to be higher in the students whose mother's education level was high school or below and whose academic grade average was lower than 70. It was determined that there was a weak positive correlation between the scores obtained from the SMKBÖ and the UCLA Loneliness Scale Short Form. Mother's education level, academic grade point average, time spent on social media in a day and loneliness level were determined as factors affecting the level of social media use disorder. It was concluded that further studies are needed to examine the effects of such technology addictions on mental health among university students. Keywords: social media disorder, loneliness, students of faculty of medicine Özet: Çalışmada tıp fakültesi birinci, ikinci ve üçüncü sınıf öğrencileri arasında sosyal medya kullanım bozukluğunun saptanması ve ilişkili olduğu düşünülen bazı değişkenlerin değerlendirilmesi ile yalnızlık düzeylerinin belirlenmesi amaçlandı. Çalışma, 2018-2019 eğitim ve öğretim yılında Eskişehir Osmangazi Üniversitesi Tıp Fakültesi birinci, ikinci ve üçüncü sınıf öğrencileri üzerinde ğerçekleştirilen kesitsel tipte bir araştırmadır. Bu çalışmada ulaşılması gereken minimum öğrenci sayısı sosyal medya kullanım sıklığı %50, hata payı %5 ve ğüven düzeyi % 95 olarak önğörüldüğünde en az 384 kişi olarak belirlendi, 422 internet kullanıcısı öğrenci çalışma grubunu oluşturdu. Verilerin toplanmasında öğrencilerin bazı sosyodemografik özelliklerini, sosyal medya kullanım bozukluğu ile ilişkili olduğu düşünülen değişkenleri içeren anket formu, Sosyal Medya Kullanım Bozukluğu Ölçeği ve UCLA Yalnızlık Ölçeği Kısa Formu kullanılmıştır. Analizler için Mann Whitney U testi, Kruskal Wallis analizi, Spearman korelasyon analizi ve çoklu lineer regresyon analizi kullanıldı. Çalışmaya katılan öğrencilerin yaş ortalması 19.78±1.33 olup %46.4'ünü kadın öğrenciler oluşturmakta idi. Öğrencilerin Sosyal Medya Kullanım Bozukluğu Ölçeği'nden aldıkları puanlar 0-63 arasında değişmekte olup puan ortalması ortalama 12.19±10.36'dır (ortanca: 9.0 puan). Anne öğrenim düzeyi lise ve altı olan, akademik not ortalaması 70'ten düşük olan öğrencilerin sosyal medya kullanım bozukluğu düzeyi daha yüksek olarak saptandı. SMKBÖ ve UCLA Yalnızlık Ölçeği Kısa Formu'ndan alınan puanlar arasında pozitif yönde zayıf bir korelasyon olduğu saptandı. Anne öğrenim düzeyi, akademik not ortalaması, bir ğünde sosyal medyada ğeçirilen süre ve yalnızlık düzeyi sosyal medya kullanım bozukluğu düzeyini etkileyen faktörler olarak saptandı. Üniversite öğrencilerinde bu tür teknoloji bağımlılıklarının ruh sağlığı alanındaki etkilerini inceleyecek ileri çalışmalara ihtiyaç duyulduğu kanaatine varıldı.
Prosopagnosia, or face blindness, is a term designating the inability to recognize people by thei... more Prosopagnosia, or face blindness, is a term designating the inability to recognize people by their face only. Until 2001, the few cases reported in the literature were almost all of the acquired form and the inborn form, with less than 20 case reports, was thought to be even rarer. In 2006, we showed that hereditary (syn. congenital) prosopagnosia belongs to one of the most common cognitive dysfunctions with a prevalence rate of 2.49 % in the German Caucasian population. Following previous work, we extended the study to 17 populations from 13 countries on four continents. The observed overall prevalence rate of 0.93% (range 0.26% - 2.47%) of the populations studied worldwide is in the same order of magnitude. This is a minimal estimate, as only 41% of the subjects who were highly suspected of prosopagnosia allowed for a follow-up examination. Extrapolating this frequency to a complete coverage, the expected prevalence rate is 2.29%. Whenever we had access to family history, we found...
Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever,... more Familial 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.
Background: Tyrosine kinase inhibitors (TKIs) have been standard-ofcare for patients with chronic... more Background: Tyrosine kinase inhibitors (TKIs) have been standard-ofcare for patients with chronic myeloid leukemia (CML) and improvements with TKIs have been obtained in survival rates. In Turkey, imatinib is the only reimbursed TKI for first line treatment and second generation TKI's are reserved for later lines. Some concerns such as TKI tolerability, adverse event profile, patient comorbidities, and concomitant drug use may affect the choice of second generation TKIs. Aims: This study aimed to evaluate demographic and clinical features and treatment patterns of chronic phase CML (CP-CML) patients treated with TKIs in Turkey. Methods: This study was a national, multicenter, retrospective study conducted on CP-CML patients followed-up between 2005-2018. After approval of the Ethics Committee, demographic and clinical data, certain laboratory findings, BCR-ABL levels, applied treatments, response to treatment, comorbidities, and adverse events were recorded on the data collection form. It was predicted that 1000 patients would have been recruited and data collection would have ended in April 2019. Herein, the interim results of this study are presented. Results: Data of 487 patients with a median age of 55 years (17-88) who were followed-up median 57 months (3-168) were included in
Deletion 13q [del(13q)] is a favorable prognostic marker if it is detected as a sole abnormality ... more Deletion 13q [del(13q)] is a favorable prognostic marker if it is detected as a sole abnormality in chronic lymphocytic leukemia (CLL). However the clinical courses of cases with isolated del(13q) are quite heterogeneous. In our study, we investigated copy number variations (CNVs), loss of heterozygosity (LOH), and the size of del(13q) in 30 CLL patients with isolated del(13q). We used CGH+SNP microarrays in order to understand the cause of this clinical heterogeneity. We detected del(13q) in 28/30 CLL cases. The size of the deletion varied from 0.34 to 28.81 Mb, and there was no clinical effect of the deletion size. We found new prognostic markers, especially the gain of 16p13.3. These markers have statistically significant associations with short time to first treatment and advanced disease stage. Detecting both CNVs and LOH at the same time is an advantageous feature of aCGH+SNP. However, it is very challenging for the array analysis to detect mosaic anomalies. Therefore, it is v...
Backround: Breast cancer is the most common cancer in women. Histopathology plays an important pa... more Backround: Breast cancer is the most common cancer in women. Histopathology plays an important part in determining the treatment strategy for women with breast cancer. TWIST expression in breast tumors correlate with increased disease recurrence and metastasis and poor disease-free survival. Steroid receptor genes family members such as the RARβ2 and ESR1 genes are methylated and silenced in a fraction of breast cancer. Method: In this study the promoter methylation levels of TWIST, RARβ2 and ESR1 gene which are associated with breast cancer were investigated by technique of Methylation Sensitive High Resolution Melting Analysis (MS-HRM).We analysed primary tumor core biopsies from 80 high-risk primary breast cancer patients (tumors ≥2 cm and/or lenfatic metastase and/or distant metastases and/or under 40 years) and the patients histopathologic types were associated with the methlation levels. Results: In our study the promoter hypermethylation status were observed at different rate...
Backround: IDC and ILC are the most common invasive breast cancer tumor types. About 80% and 10% ... more Backround: IDC and ILC are the most common invasive breast cancer tumor types. About 80% and 10% of invasive breast cancers are infiltrating ductal and lobular carcinomas respectively. Method: In this study the promoter methylation levels of TWIST, RARβ2, ESR1, GSTP1 and CDH1 genes which are associated with breast cancer were investigated by Quantitative Methylation Sensitive High Resolution Melting Analysis (QMS-HRM). We analysed primary tumor core biopsies from 80 high-risk primary breast cancer patients (tumors ≥2 cm and/or lenfatic me¬tastase and/or distant metastases and/or under 40 years) and their histo¬pathologic types were associated with the methylation levels. Results: In our study the promoter hypermethylation status were obser¬ved at different rates; TWIST, RARβ2, ESR1, GSTP1 and CDH1 methylation frequencies were 25%, 88,75% 72,5%, 82% and 95% respectively. When comparing the promoter hypermethylation of tumor types of the breast, RARβ2, ESR1, GSTP1 and CDH1 genes found...
Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly,... more Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly, cutis marmorata, capillary malformations, toe syndactily, joint laxity and pre-natal overgrowth. Cerebral abnormalities might also be seen. We reported cerebral magnetic resonance imaging (MRI) findings of a case with M-CMTC, who had giant atrial septal aneurysm and atrial septal defect. Cerebral alterations determined by MRI were bilateral prominent lateral ventricles, bilateral cortical dysplasia, cavum septi pellucidum cyst and calvarial hemangioma. At 17th day of his life he suddenly developed cardiorespiratory arrest and died.
Turkiye Klinikleri Journal of Medical Sciences, 2010
ABSTRACT Objective: Invertion and balanced chromosome translocations are most frequently seen chr... more ABSTRACT Objective: Invertion and balanced chromosome translocations are most frequently seen chromosomal rearrangements in couples with recurrent reproductive failure. About 5% of the couples with recurrent losses have chromosomal structural rearrangements. Balanced cryptic chromosomal rearrangements that can be missed by conventional cytogenetic karyotyping could be responsible for recurrent abortions in couples with apparently normal karyotypes. The aim of this prospective study was to determine the frequency of balanced subtelomeric chromosomal rearrangements by chromosomal subtelomeric region screening in karyotypically normal couples with idiopathic recurrent spontaneous abortions. Material and Methods: The study was performed on 70 couples proven to be clinically normal who had three or more spontaneous abortions and whose karyotypes were found to be normal. Hybridization and analysis of the telomere regions of the all autosomal and gonosomal chromosomes were performed by fluorescence in situ hybridization technique with the usage of the specific probes of the subtelomeric regions. Results: No chromosomal rearrangements including subtelomeric translocations could be identified in 140 cases. Besides, no polymorphic increased and/or decreased signals were seen in the analysis of 1400 metaphases. Conclusion: Balanced cryptic chromosomal rearrangements can cause balanced reciprocal translocations in the couples with recurrent spontaneous abortions. Subtelomeric cryptic rearrangements of these couples were screened in this study and no relations were found between the subtelomeric rearrangements and the multiple miscarriages, concordant with the reports in the literature. However, having not only multiple miscarriages but also infants with mental and physical abnormalities may an important indication for subtelomeric region analysis.
Background: To determine whether observed relationship between the genotype distribution of Apoli... more Background: To determine whether observed relationship between the genotype distribution of Apolipoprotein E and number and reason of hospitalisations amongs demented patients. Methods: We collected data on the basis of data from 630 dementia patients admitting to Eskisehir Osmangazi University dementia outpatient clinic who consented to the genotyped until present from 2000.Results: Themost common part of our patients was consisted of Alzheimer disease (41.9%). Remaining part were subsequently vascular dementia (33.3%), Frontotemporal dementia (7.6%), other group (tumors, hydrocephalus, endocrine vs. 5.6%), Mild cognitive impairment (4.4%), Lewy body dementia (3.3%), Corticobasal disorder (2.4%) and Progressive supranuclear palsy (1.4%). APOE genotype frequencies were 0.6 percent for E2/E2, 0.8 percent for E2/E4, 5.1 percent for E4/E4, 9 percent for E2/E3, 21.7 percent for E3/E4, 62.7 percent for E3/E3. While, In Alzheimer dementia was seen more often E3/3, 3/4, 4/4 than other dementia, the frequency E3/3, 2/3 and 3/4 were higher detected in vascular dementia, respectively. In frontotemporale dementia patients were no seen E4/4, 2/4 and 2/2 alleles. Vascular dementia patients admitted the most times to hospital than other dementia (<0.001). In contrast, Alzheimer patients developed the most complication during their disease (<0.05). These complications were respectively urinary tract (48%) or chest infections (36%), trauma (9%), the prerenal azotemia (4%) and deficiency of feeding (3%). Neither admitting to hospital nor complication type and number were no found differences in APOE genotypes. The used drugs like antidepressant or neuroleptics did not effect to depend on extraordinary events in demented patients. The differences between initial and last MiniMental Status Examination in all dementia patients did not observed the relationship the type of dementia and genotypes distribution of APOE. Conclusions: In conclusion, the APOE genotypes, especially APOE3/4 and 4/4, are not a significant predictor of number and reason of hospitalizations and complication except the natural progression of disease. It is not socio demographic data and can be accepted pathological data.
In acute myeloid leukemia, t(8;21) detected with a frequency of 10% is associated with good progn... more In acute myeloid leukemia, t(8;21) detected with a frequency of 10% is associated with good prognosis. However, variant t(8;21) is observed in 4% of these cases, and although the prognostic effects of these variant translocations have not been clearly revealed, there are findings that they affect the prognosis poorly. Here, we report on a 39 years old man, detected 4-way varyant t(8;21) which include relocalization of RUNX1/RUNX1T1 fusion gene, and loss of Y chromosome. RT-PCR also confirmed RUNX1/RUNX1T1 fusion transcript. Additionally, D820G and N822K mutations on KIT gene and mut B on NMP1 gene were detected. A complete remission could not achieved after first chemotherapy treatment. Due to primary resistance and variant of t(8;21), stem cell transplantation was performed. The variant translocation we have reported is unique and also the case is the second case that was reported in the literature in terms of the relocation of the AML1/ETO fusion gene. Since c-KIT mutations and LOY were also observed, it is not possible to predict the prognosis. To highlight the importance of variant translocations and relocalization of fusion gene, more cytogenetic and molecular data are needed.
Just as its clinical heterogeneity, genetic basis of Frontotemporal dementia (FTD) is also divers... more Just as its clinical heterogeneity, genetic basis of Frontotemporal dementia (FTD) is also diverse and multiple molecular pathways are thought to be involved in disease pathogenesis. In the present study, FTD- related genes were evaluated in a Turkish cohort of 175 index FTD patients with a gene panel including GRN, MAPT, TARDBP, FUS, CHMP2B and VCP genes. Potential genetic associations were prospected in 16 patients (9.1%); five variants (p.(Gly35Glufs) and p.(Cys253Ter) in GRN; p.(Arg95Cys) in VCP; p.(Met405Val) in TARDBP and p.(Pro636Leu) in MAPT) were classified as pathogenic (P) or likely pathogenic (LP), in four familial and one sporadic patients. Three novel variants in MAPT, CHMP2B and FUS were also identified in familial cases. The most common pathogenic variants were observed in the GRN gene with a frequency of 1.14% (2/175) and this rate was 4.57% (8/175), including variants of uncertain significance (VUS). In this study with the largest cohort of Turkish FTD patients, GR...
Background: There is an increasing deal about the role of inflammation in Parkinson’s disease (PD... more Background: There is an increasing deal about the role of inflammation in Parkinson’s disease (PD) pathogenesis after the observation of clear evidence of immune responses close to the basal ganglia of PD patients. Although receptor of advanced glycation end-products (RAGE) has been implicated in several studies as an inflammation marker in PD; RAGE gene polymorphisms is infrequently examined. Thirty single-nucleotide polymorphisms (SNPs) including G82S (rs2070600) located in 3rd exon, -374T/A (rs1800624), -429T/C (rs1800625) and 63bp ins/del in the promoter region of the gene which may have marked effects on the expression or function of RAGE have been described to date. Objective: To evaluate the association of RAGE gene polymorphisms with PD in a Turkish cohort. Methods: Totally, 174 PD patients and 150 healthy-individuals were included into the study. Genotype analyses were performed using PCR-RFLP and ARMS methods. Results: 429T>C, 374T>A, and 82G>S polymorphisms showe...
Objective: Chronic myeloid leukemia (CML) is a clonal hematologic disorder characterized by t(9;2... more Objective: Chronic myeloid leukemia (CML) is a clonal hematologic disorder characterized by t(9;22) translocation, in which cytogenetic aberrations can occur in Ph(+) and (-) clones. These aberrations develop due to clonal evolution as well as treatment and they have prognostic significance. They are grouped as major and minor route anomalies in terms of their effects on prognostic parameters, such as treatment response, overall survival (OS), disease stage, complete cytogenetic response (CCyR), and major molecular response (MMR). It is stated that major route anomalies have unfavorable prognostic effects compared to minor route anomalies. We aimed to investigate the frequency and prognostic effects of cytogenetic anomalies detected in Ph(+) and (-) clones. Materials and Methods: In this study, we retrospectively analyzed the cytogenetic results of 450 patients diagnosed with CML between 2005 and 2020. Results: We detected cytogenetic aberrations in Ph-positive and negative clones in 41 of 450 patients. The most common anomalies were trisomy 8 (+8), additional Ph chromosome (+Ph), and loss of chromosome Y. Rarely, aneuploidy of the Y chromosome, dup (22), +11, and +6 were seen in CML patients. We observed that these identified aberrations negatively affected MMR and CCyR, and generally resulted in changing imatinib treatment for second-generation tyrosine kinase activity inhibitors. Our results are compatible with the literature. Amaç: Kronik myeloid lösemi (KML), t(9;22) ile karakterize olan, Ph(+) ve (-) klonlarda sitogenetik aberasyonların gelişebildiği bir lösemi tipi olarak bilinmektedir. Bu aberasyonlar klonal evolüsyon ve tedaviye bağlı gelişmekte olup, prognostik etkileri olduğu bilinmektedir. Literatürde; tedavi yanıtı, toplam sağkalım (OS), hastalık evresi, tam sitogenetik yanıt (TSY) ve majör moleküler yanıt (MMY) gibi prognostik parametreler üzerine olan etkileri açısından bu anomaliler majör ve minör yolak anomalileri olarak gruplandırılmaktadır. Majör yolak anomalilerinin minör yolak anomalilerine göre prognozu olumsuz yönde etkilediği belirtilmektedir. Biz de, Ph(+) ve (-) klonda saptanan sitogenetik anomalilerin sıklığını ve prognostik etkisini araştırmayı amaçladık. Gereç ve Yöntemler: Bu çalışmada, 2005-2020 yılları arasında KML tanısı almış 450 hastanın retrospektif olarak sitogenetik sonuçlarını inceledik. Bulgular: Bu hastaların 41/450' inde Ph(+) ve/veya (-) klonda sitogenetik aberasyonlar saptadık. En sık gözlenen anomaliler trizomi 8 (+8), ek Ph kromozomu (+Ph) ve Y kromozom kaybı idi. Ayrıca KML hastalarında nadir görülen dup (22), +11, +6 ve Y kromozom artışı; ve daha önce literatürde saptanmayan inv(1) anomalisini tespit ettik. Saptanan bu aberasyonların MMY ve TSY olumsuz etkilediğini ve tedavide de genellikle 2. nesil tirozin kinaz aktivite inhibitörlerin tercih edildiğini gözledik. Elde ettiğimiz sonuçlar, literatür verileri ile uyumluluk göstermektedir.
Deletion 13q [del(13q)] is a favorable prognostic marker if it is detected as a sole abnormality ... more Deletion 13q [del(13q)] is a favorable prognostic marker if it is detected as a sole abnormality in chronic lymphocytic leukemia (CLL). However the clinical courses of cases with isolated del(13q) are quite heterogeneous. In our study, we investigated copy number variations (CNVs), loss of heterozygosity (LOH), and the size of del(13q) in 30 CLL patients with isolated del(13q). We used CGH+SNP microarrays in order to understand the cause of this clinical heterogeneity. We detected del(13q) in 28/30 CLL cases. The size of the deletion varied from 0.34 to 28.81 Mb, and there was no clinical effect of the deletion size. We found new prognostic markers, especially the gain of 16p13.3. These markers have statistically significant associations with short time to first treatment and advanced disease stage. Detecting both CNVs and LOH at the same time is an advantageous feature of aCGH+SNP. However, it is very challenging for the array analysis to detect mosaic anomalies. Therefore, it is v...
This study was conducted to determine the levels of social media use disorder among the first, se... more This study was conducted to determine the levels of social media use disorder among the first, second and third grade students of the medical faculty and evaluate some variables that are thought to be related and to determine the levels of loneliness.The study is a cross-sectional study conducted on the first, second and third year students of Eskişehir Osmangazi University Faculty of Medicine in the 2018-2019 academic year. In this study, the minimum number of students to be reached was determined as at least 384 people, when the frequency of social media use was 50%, the margin of error was 5%, and the confidence level was 95%. The study group was formed by 422 internet users. A questionnaire including some sociodemographic characteristics of students, variables thought to be associated with social media use disorder, Social Media Use Disorder Scale and UCLA Loneliness Scale Short Form were used to collect data. Mann Whitney U test, Kruskal Wallis analysis, Spearman correlation analysis and multiple linear regression analysis were used for analysis.The mean age of the students participating in the study was 19.78±1.33 and 46.4% were female students. The scores of the students on the Social Media Use Disorder Scale range from 0 to 63, with a mean score of 12.19±10.36 (median: 9.0 points). The level of social media use disorder was found to be higher in the students whose mother's education level was high school or below and whose academic grade average was lower than 70. It was determined that there was a weak positive correlation between the scores obtained from the SMKBÖ and the UCLA Loneliness Scale Short Form. Mother's education level, academic grade point average, time spent on social media in a day and loneliness level were determined as factors affecting the level of social media use disorder. It was concluded that further studies are needed to examine the effects of such technology addictions on mental health among university students. Keywords: social media disorder, loneliness, students of faculty of medicine Özet: Çalışmada tıp fakültesi birinci, ikinci ve üçüncü sınıf öğrencileri arasında sosyal medya kullanım bozukluğunun saptanması ve ilişkili olduğu düşünülen bazı değişkenlerin değerlendirilmesi ile yalnızlık düzeylerinin belirlenmesi amaçlandı. Çalışma, 2018-2019 eğitim ve öğretim yılında Eskişehir Osmangazi Üniversitesi Tıp Fakültesi birinci, ikinci ve üçüncü sınıf öğrencileri üzerinde ğerçekleştirilen kesitsel tipte bir araştırmadır. Bu çalışmada ulaşılması gereken minimum öğrenci sayısı sosyal medya kullanım sıklığı %50, hata payı %5 ve ğüven düzeyi % 95 olarak önğörüldüğünde en az 384 kişi olarak belirlendi, 422 internet kullanıcısı öğrenci çalışma grubunu oluşturdu. Verilerin toplanmasında öğrencilerin bazı sosyodemografik özelliklerini, sosyal medya kullanım bozukluğu ile ilişkili olduğu düşünülen değişkenleri içeren anket formu, Sosyal Medya Kullanım Bozukluğu Ölçeği ve UCLA Yalnızlık Ölçeği Kısa Formu kullanılmıştır. Analizler için Mann Whitney U testi, Kruskal Wallis analizi, Spearman korelasyon analizi ve çoklu lineer regresyon analizi kullanıldı. Çalışmaya katılan öğrencilerin yaş ortalması 19.78±1.33 olup %46.4'ünü kadın öğrenciler oluşturmakta idi. Öğrencilerin Sosyal Medya Kullanım Bozukluğu Ölçeği'nden aldıkları puanlar 0-63 arasında değişmekte olup puan ortalması ortalama 12.19±10.36'dır (ortanca: 9.0 puan). Anne öğrenim düzeyi lise ve altı olan, akademik not ortalaması 70'ten düşük olan öğrencilerin sosyal medya kullanım bozukluğu düzeyi daha yüksek olarak saptandı. SMKBÖ ve UCLA Yalnızlık Ölçeği Kısa Formu'ndan alınan puanlar arasında pozitif yönde zayıf bir korelasyon olduğu saptandı. Anne öğrenim düzeyi, akademik not ortalaması, bir ğünde sosyal medyada ğeçirilen süre ve yalnızlık düzeyi sosyal medya kullanım bozukluğu düzeyini etkileyen faktörler olarak saptandı. Üniversite öğrencilerinde bu tür teknoloji bağımlılıklarının ruh sağlığı alanındaki etkilerini inceleyecek ileri çalışmalara ihtiyaç duyulduğu kanaatine varıldı.
Prosopagnosia, or face blindness, is a term designating the inability to recognize people by thei... more Prosopagnosia, or face blindness, is a term designating the inability to recognize people by their face only. Until 2001, the few cases reported in the literature were almost all of the acquired form and the inborn form, with less than 20 case reports, was thought to be even rarer. In 2006, we showed that hereditary (syn. congenital) prosopagnosia belongs to one of the most common cognitive dysfunctions with a prevalence rate of 2.49 % in the German Caucasian population. Following previous work, we extended the study to 17 populations from 13 countries on four continents. The observed overall prevalence rate of 0.93% (range 0.26% - 2.47%) of the populations studied worldwide is in the same order of magnitude. This is a minimal estimate, as only 41% of the subjects who were highly suspected of prosopagnosia allowed for a follow-up examination. Extrapolating this frequency to a complete coverage, the expected prevalence rate is 2.29%. Whenever we had access to family history, we found...
Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever,... more Familial 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.
Background: Tyrosine kinase inhibitors (TKIs) have been standard-ofcare for patients with chronic... more Background: Tyrosine kinase inhibitors (TKIs) have been standard-ofcare for patients with chronic myeloid leukemia (CML) and improvements with TKIs have been obtained in survival rates. In Turkey, imatinib is the only reimbursed TKI for first line treatment and second generation TKI's are reserved for later lines. Some concerns such as TKI tolerability, adverse event profile, patient comorbidities, and concomitant drug use may affect the choice of second generation TKIs. Aims: This study aimed to evaluate demographic and clinical features and treatment patterns of chronic phase CML (CP-CML) patients treated with TKIs in Turkey. Methods: This study was a national, multicenter, retrospective study conducted on CP-CML patients followed-up between 2005-2018. After approval of the Ethics Committee, demographic and clinical data, certain laboratory findings, BCR-ABL levels, applied treatments, response to treatment, comorbidities, and adverse events were recorded on the data collection form. It was predicted that 1000 patients would have been recruited and data collection would have ended in April 2019. Herein, the interim results of this study are presented. Results: Data of 487 patients with a median age of 55 years (17-88) who were followed-up median 57 months (3-168) were included in
Deletion 13q [del(13q)] is a favorable prognostic marker if it is detected as a sole abnormality ... more Deletion 13q [del(13q)] is a favorable prognostic marker if it is detected as a sole abnormality in chronic lymphocytic leukemia (CLL). However the clinical courses of cases with isolated del(13q) are quite heterogeneous. In our study, we investigated copy number variations (CNVs), loss of heterozygosity (LOH), and the size of del(13q) in 30 CLL patients with isolated del(13q). We used CGH+SNP microarrays in order to understand the cause of this clinical heterogeneity. We detected del(13q) in 28/30 CLL cases. The size of the deletion varied from 0.34 to 28.81 Mb, and there was no clinical effect of the deletion size. We found new prognostic markers, especially the gain of 16p13.3. These markers have statistically significant associations with short time to first treatment and advanced disease stage. Detecting both CNVs and LOH at the same time is an advantageous feature of aCGH+SNP. However, it is very challenging for the array analysis to detect mosaic anomalies. Therefore, it is v...
Backround: Breast cancer is the most common cancer in women. Histopathology plays an important pa... more Backround: Breast cancer is the most common cancer in women. Histopathology plays an important part in determining the treatment strategy for women with breast cancer. TWIST expression in breast tumors correlate with increased disease recurrence and metastasis and poor disease-free survival. Steroid receptor genes family members such as the RARβ2 and ESR1 genes are methylated and silenced in a fraction of breast cancer. Method: In this study the promoter methylation levels of TWIST, RARβ2 and ESR1 gene which are associated with breast cancer were investigated by technique of Methylation Sensitive High Resolution Melting Analysis (MS-HRM).We analysed primary tumor core biopsies from 80 high-risk primary breast cancer patients (tumors ≥2 cm and/or lenfatic metastase and/or distant metastases and/or under 40 years) and the patients histopathologic types were associated with the methlation levels. Results: In our study the promoter hypermethylation status were observed at different rate...
Backround: IDC and ILC are the most common invasive breast cancer tumor types. About 80% and 10% ... more Backround: IDC and ILC are the most common invasive breast cancer tumor types. About 80% and 10% of invasive breast cancers are infiltrating ductal and lobular carcinomas respectively. Method: In this study the promoter methylation levels of TWIST, RARβ2, ESR1, GSTP1 and CDH1 genes which are associated with breast cancer were investigated by Quantitative Methylation Sensitive High Resolution Melting Analysis (QMS-HRM). We analysed primary tumor core biopsies from 80 high-risk primary breast cancer patients (tumors ≥2 cm and/or lenfatic me¬tastase and/or distant metastases and/or under 40 years) and their histo¬pathologic types were associated with the methylation levels. Results: In our study the promoter hypermethylation status were obser¬ved at different rates; TWIST, RARβ2, ESR1, GSTP1 and CDH1 methylation frequencies were 25%, 88,75% 72,5%, 82% and 95% respectively. When comparing the promoter hypermethylation of tumor types of the breast, RARβ2, ESR1, GSTP1 and CDH1 genes found...
Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly,... more Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly, cutis marmorata, capillary malformations, toe syndactily, joint laxity and pre-natal overgrowth. Cerebral abnormalities might also be seen. We reported cerebral magnetic resonance imaging (MRI) findings of a case with M-CMTC, who had giant atrial septal aneurysm and atrial septal defect. Cerebral alterations determined by MRI were bilateral prominent lateral ventricles, bilateral cortical dysplasia, cavum septi pellucidum cyst and calvarial hemangioma. At 17th day of his life he suddenly developed cardiorespiratory arrest and died.
Turkiye Klinikleri Journal of Medical Sciences, 2010
ABSTRACT Objective: Invertion and balanced chromosome translocations are most frequently seen chr... more ABSTRACT Objective: Invertion and balanced chromosome translocations are most frequently seen chromosomal rearrangements in couples with recurrent reproductive failure. About 5% of the couples with recurrent losses have chromosomal structural rearrangements. Balanced cryptic chromosomal rearrangements that can be missed by conventional cytogenetic karyotyping could be responsible for recurrent abortions in couples with apparently normal karyotypes. The aim of this prospective study was to determine the frequency of balanced subtelomeric chromosomal rearrangements by chromosomal subtelomeric region screening in karyotypically normal couples with idiopathic recurrent spontaneous abortions. Material and Methods: The study was performed on 70 couples proven to be clinically normal who had three or more spontaneous abortions and whose karyotypes were found to be normal. Hybridization and analysis of the telomere regions of the all autosomal and gonosomal chromosomes were performed by fluorescence in situ hybridization technique with the usage of the specific probes of the subtelomeric regions. Results: No chromosomal rearrangements including subtelomeric translocations could be identified in 140 cases. Besides, no polymorphic increased and/or decreased signals were seen in the analysis of 1400 metaphases. Conclusion: Balanced cryptic chromosomal rearrangements can cause balanced reciprocal translocations in the couples with recurrent spontaneous abortions. Subtelomeric cryptic rearrangements of these couples were screened in this study and no relations were found between the subtelomeric rearrangements and the multiple miscarriages, concordant with the reports in the literature. However, having not only multiple miscarriages but also infants with mental and physical abnormalities may an important indication for subtelomeric region analysis.
Background: To determine whether observed relationship between the genotype distribution of Apoli... more Background: To determine whether observed relationship between the genotype distribution of Apolipoprotein E and number and reason of hospitalisations amongs demented patients. Methods: We collected data on the basis of data from 630 dementia patients admitting to Eskisehir Osmangazi University dementia outpatient clinic who consented to the genotyped until present from 2000.Results: Themost common part of our patients was consisted of Alzheimer disease (41.9%). Remaining part were subsequently vascular dementia (33.3%), Frontotemporal dementia (7.6%), other group (tumors, hydrocephalus, endocrine vs. 5.6%), Mild cognitive impairment (4.4%), Lewy body dementia (3.3%), Corticobasal disorder (2.4%) and Progressive supranuclear palsy (1.4%). APOE genotype frequencies were 0.6 percent for E2/E2, 0.8 percent for E2/E4, 5.1 percent for E4/E4, 9 percent for E2/E3, 21.7 percent for E3/E4, 62.7 percent for E3/E3. While, In Alzheimer dementia was seen more often E3/3, 3/4, 4/4 than other dementia, the frequency E3/3, 2/3 and 3/4 were higher detected in vascular dementia, respectively. In frontotemporale dementia patients were no seen E4/4, 2/4 and 2/2 alleles. Vascular dementia patients admitted the most times to hospital than other dementia (<0.001). In contrast, Alzheimer patients developed the most complication during their disease (<0.05). These complications were respectively urinary tract (48%) or chest infections (36%), trauma (9%), the prerenal azotemia (4%) and deficiency of feeding (3%). Neither admitting to hospital nor complication type and number were no found differences in APOE genotypes. The used drugs like antidepressant or neuroleptics did not effect to depend on extraordinary events in demented patients. The differences between initial and last MiniMental Status Examination in all dementia patients did not observed the relationship the type of dementia and genotypes distribution of APOE. Conclusions: In conclusion, the APOE genotypes, especially APOE3/4 and 4/4, are not a significant predictor of number and reason of hospitalizations and complication except the natural progression of disease. It is not socio demographic data and can be accepted pathological data.
In acute myeloid leukemia, t(8;21) detected with a frequency of 10% is associated with good progn... more In acute myeloid leukemia, t(8;21) detected with a frequency of 10% is associated with good prognosis. However, variant t(8;21) is observed in 4% of these cases, and although the prognostic effects of these variant translocations have not been clearly revealed, there are findings that they affect the prognosis poorly. Here, we report on a 39 years old man, detected 4-way varyant t(8;21) which include relocalization of RUNX1/RUNX1T1 fusion gene, and loss of Y chromosome. RT-PCR also confirmed RUNX1/RUNX1T1 fusion transcript. Additionally, D820G and N822K mutations on KIT gene and mut B on NMP1 gene were detected. A complete remission could not achieved after first chemotherapy treatment. Due to primary resistance and variant of t(8;21), stem cell transplantation was performed. The variant translocation we have reported is unique and also the case is the second case that was reported in the literature in terms of the relocation of the AML1/ETO fusion gene. Since c-KIT mutations and LOY were also observed, it is not possible to predict the prognosis. To highlight the importance of variant translocations and relocalization of fusion gene, more cytogenetic and molecular data are needed.
Just as its clinical heterogeneity, genetic basis of Frontotemporal dementia (FTD) is also divers... more Just as its clinical heterogeneity, genetic basis of Frontotemporal dementia (FTD) is also diverse and multiple molecular pathways are thought to be involved in disease pathogenesis. In the present study, FTD- related genes were evaluated in a Turkish cohort of 175 index FTD patients with a gene panel including GRN, MAPT, TARDBP, FUS, CHMP2B and VCP genes. Potential genetic associations were prospected in 16 patients (9.1%); five variants (p.(Gly35Glufs) and p.(Cys253Ter) in GRN; p.(Arg95Cys) in VCP; p.(Met405Val) in TARDBP and p.(Pro636Leu) in MAPT) were classified as pathogenic (P) or likely pathogenic (LP), in four familial and one sporadic patients. Three novel variants in MAPT, CHMP2B and FUS were also identified in familial cases. The most common pathogenic variants were observed in the GRN gene with a frequency of 1.14% (2/175) and this rate was 4.57% (8/175), including variants of uncertain significance (VUS). In this study with the largest cohort of Turkish FTD patients, GR...
Background: There is an increasing deal about the role of inflammation in Parkinson’s disease (PD... more Background: There is an increasing deal about the role of inflammation in Parkinson’s disease (PD) pathogenesis after the observation of clear evidence of immune responses close to the basal ganglia of PD patients. Although receptor of advanced glycation end-products (RAGE) has been implicated in several studies as an inflammation marker in PD; RAGE gene polymorphisms is infrequently examined. Thirty single-nucleotide polymorphisms (SNPs) including G82S (rs2070600) located in 3rd exon, -374T/A (rs1800624), -429T/C (rs1800625) and 63bp ins/del in the promoter region of the gene which may have marked effects on the expression or function of RAGE have been described to date. Objective: To evaluate the association of RAGE gene polymorphisms with PD in a Turkish cohort. Methods: Totally, 174 PD patients and 150 healthy-individuals were included into the study. Genotype analyses were performed using PCR-RFLP and ARMS methods. Results: 429T>C, 374T>A, and 82G>S polymorphisms showe...
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Papers by Beyhan Aras