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Papers by nejat akar

Blood, 2007

The most important problem in the treatment of Multiple Myeloma (MM) is the multi drug resistance... more The most important problem in the treatment of Multiple Myeloma (MM) is the multi drug resistance (MDR) observed before and after the treatment. For this reason in MM cases an early resistance to treatment can be developed or the disease can relapsed in early period. Yet, there has been no improved drug resistance against proteazom inhibitor Bortezomib (Bor), which is used alone or with other chemotherapeutic agents in resistant or relapsed MM cases. In this study, bortezomib resistant human MM cell lines; RPMI-8226, secreting lambda light chain, and ARH-77, secreting IgG, were developed and responsible resistance mechanisms were investigated. For this purpose, by exposing to the cells to sequentially gradual doses of Bor in vitro conditions, resistant cell lines were acquired throughout one year. The IC50 values for Bor were determined after 48 hour incubation by MTT cytotoxicity assay (IC50:1,16nM for RPMI-8226 and IC80:0,6nM for ARH-77) against wild type cells. Throughout one yea...

SDÜ Tıp Fakültesi Dergisi, 2018

Amaç: Histon deasetilazların değişmiş ifadesi hematolojik maligniteler için kanser tedavisinde he... more Amaç: Histon deasetilazların değişmiş ifadesi hematolojik maligniteler için kanser tedavisinde hedef olabilecek niteliktedir. HDAC mutasyonları ve anormal ifade seviyeleri çeşitli kanser tiplerinde ve özellikle hematolojik malignitelerde sıklıkla görülmekte olduğu, çocukluk çağı lösemi örneklerinde HDAC2, HDAC3, HDAC6, HDAC7 ve HDAC8 gen ifadelerinin sağlıklı çocuk kemik iliği örneklerine göre önemli derece yüksek olduğu rapor edilmiştir. Gereç ve Yöntem: Çalışmamızda 6 HDAC geninin gen ifade profilini çocukluk çağı akut lösemisinde kantitatif Real Time PCR yöntemi kullanılması ile tedavinin farklı zamanlarında belirlenmesi gerçekleştirilmiştir. Bulgular: Çalışmamız sonucunda çocukluk çağı lösemi örneklerinde HDAC genleri ifade seviyelerinin birbirine göre farklılık gösterdiği gözlenmiştir. Çalışmamızda; tedavi öncesinde, kontrol örneklerinin ifadelenme seviyelerine göre; HDAC2 ve HDAC9 ifadelenme seviyelerinin düşük, HDAC 4 ve HDAC 8 eşit seviyede ve son olarak HDAC 5 ve HDAC7 yüks...

Journal of Pediatric Research, Mar 1, 2019

Diamond-Gardner syndrome (DGS) is an autoimmune disease characterized by painful ecchymoses that ... more Diamond-Gardner syndrome (DGS) is an autoimmune disease characterized by painful ecchymoses that develop following emotional stress or trauma. The lesions are observed mostly in the extremities and these lesions are the result of autosensitization to extravasated erythrocytes after trauma. The majority of the patients diagnosed with this disease are composed of young women. In this case report, a teenager who had complaints of recurring painful ecchymoses with no related personal or familial background and later-diagnosed with DGS is presented. Although it is seen less commonly, DGS should be considered in the differential diagnosis of cutaneous lesions and haemorrhages of the childhood period, especially in adolescence.

PubMed, Dec 5, 1999

There different RFLP's on the p53 gene were studied in a healthy Turkish population. These RFLP's... more There different RFLP's on the p53 gene were studied in a healthy Turkish population. These RFLP's were located on the exon 4 (CD 47), exon 6 (CD 213) and intron 6 (A-G). CD 47 (C-T) was not present. CD 213 (G) occurred very rarely with a frequency of 0.0114. The frequency of the Int 6 A/G a alteration was found to be 0.70 for "G". The heterozygosity rate was 32.72%.

Gene Reports, Sep 1, 2020

Çocuk Enfeksiyon Dergisi, Mar 25, 2022

Clinical Cardiology, Apr 1, 2001

Buckground: Elevated plasma homocysteine level is an independent risk factor for cardiovascular d... more Buckground: Elevated plasma homocysteine level is an independent risk factor for cardiovascular disease. A common mutation (nucleotid 677C-T) in the gene coding for methylenetetrahydrofolate reductase (MTHFR) has been reported to reduce the enzymatic activity of MTHFR and is associated with elevated plasma levels of homocysteine, especially in subjects with low folate intake. Hypothesis: Methylenetetrah ydrofolate reductase T/T genotype may be a risk factor for premature MI in Turkish population who are known to have low folate levels. Methodc?: The study group was comprised of 96 men (aged <45 years) with premature myocardial infarction (MI) and 100 age-and gender-matched controls who had no history or clinical evidence of coronary artery disease (CAD) and/or MI. DNA was extracted from peripheral blood and genotypes were determined by polymerase chain reaction, restriction mapping with Hinfl, and gel electrophoresis. Conventional risk factors for CAD were prospectively documented. Results: Allele and genotype frequencies among cases and control subjects were compatible with Hardy-Weinberg equilibrium. The frequencies of T/T, C/T, and C/C genotypes among patients with MI and control subjects were 15.6,40.6, and 43.8% and 5, 35, and 60%, respectively. Multivariate analyses identified smoking, MTHFR C/T polymorphism, diabetes mellitus, family history of CAD, and hypertension as the independent predictors of premature MI. Defining patients with non-T/T genotype (C/C and C/T combined) as reference, the relative risk of MI for subjects with T/T genotype was 5.94 (95% confidence interval: 1.96-18.02, p =0.0016).

Journal of Paediatrics and Child Health, Jun 29, 2021

We read the paper reviewing paediatric facial paralysis, which appeared in a recent issue of the ... more We read the paper reviewing paediatric facial paralysis, which appeared in a recent issue of the journal with great interest. 1 Although the authors mentioned several different known causes of acquired facial nerve palsy, it is important to keep influenza A virus in mind as another recognised cause of facial palsy. For example, in a paper from Finland, 3 of 46 children with facial palsy had serological evidence of recent influenza A virus infection. 2 A 4-year-old girl was admitted to our Department of Paediatrics with fever (37.5 C) and clear nasal discharge. She later developed mouth drooping (Figs 1,2). Influenza A (H1N1) virus antigen was positive on a nasopharyngeal swab, using a rapid immunochromatic test (QuickVue Influenza A+B Test; Quidel Co., San Diego, CA, USA). Her facial palsy recovered within a week without any complications after supportive therapy. This clinical situation reminded us that influenza should also be considered as a causative agent in facial paralysis affecting children.

Çocuk Enfeksiyon Dergisi, Mar 25, 2022

Türk biyokimya dergisi, Dec 1, 2021

Objectives: Glucose-6-phosphate dehydrogenase (G6PD) has role in the Embden Meyerhof road. Any lo... more Objectives: Glucose-6-phosphate dehydrogenase (G6PD) has role in the Embden Meyerhof road. Any loss of its function causes NADPH to cease, leaving erythrocytes susceptible to oxidative damage resulting in acute hemolytic anemia attacks secondary to drugs or infection and favism. Because of X-linked recessive inheritance males are mainly affected. Being heterozygous, females have less severe clinical presentation. Case presentation: G6PD deficiency was suspected in a six-year-old girl from an Iraqi family with a history of yellowing of skin and darkening of urine after eating broad beans. Besides the patient, G6PD levels were found low in the father and in two sisters who showed no symptoms. The father was found hemizygous and the three sisters were found heterozygous for NM_000402.4c.1093G>A (p.A365T)(6.Ala365Thr) mutation while the mother was normal. Conclusions: G6PD enzyme deficiency can be seen in both genders, and it may be presented with different clinical manifestations even within the people having the same mutation.

Turkish Journal of Medical Sciences, Oct 21, 2021

Blood, Nov 15, 2013

Introduction and Aim Glanzmann’s thrombasthenia (GT) is an inherited disorder of platelet aggrega... more Introduction and Aim Glanzmann’s thrombasthenia (GT) is an inherited disorder of platelet aggregation, resulting from defective glycoprotein IIb/IIIa on platelet surface. Bernard Soulier Syndrome (BSS) is also an inherited disorder of platelet adhesion and associated with defective glycoprotein Ib-V-IX on platelet surface. Both of these disorders usually present with mucocutaneous bleedings. We aimed to evaluate the clinical and genetic characteristics of the patients diagnosed as BSS and GT in department of pediatric hematology of Meram Faculty of Medicine, retrospectively. Method Seven patients diagnosed with BSS and 20 patients diagnosed with GT were enrolled to the study. Medical records of patients were reviewed retrospectively. Glycoprotein IIb gen rearrangement was investigated in genetic department of Ankara University Medical School, Turkey. Mutational analysis for BSS was performed in Medicina Interna ed Oncologia Medica, Italy. The correlation between clinical outcome and genotyping was investigated. Results Of 20 patients of GT, 8 were male and 12 were female. Of 7 patients of BSS, all of them were female. Glycoprotein IIB gene rearrangement was detected in 7 patient of GT. 5 of 7 were newly described mutations in published literature. Mutations in GpIBB and GpIBA gene were detected in 7 patients with BSS. No correlation was observed among the clinical and genotype characteristics of patients both with GT and BSS. The most common patterns of bleeding were epistaxis and gum bleeding. Life threatening bleeding was seen in 5 of GT patients (4 gastrointestinal bleeding, 1 mediastinal hematoma) and 2 of BSS patients (1 splenic rupture and 1 gastrointestinal bleeding). No patients had died due to major bleedings. One patient with GT experienced spontaneous duodenal intramural bleeding resulting duodenal obstruction. One patient with BSS experienced spontaneous mediastinal hematoma. Although the BSS, it is interesting that the patient was able to control of mediastinal hematoma. Further investigations revealed the patient has prothrombotic mutation (heterozygous FV Leiden). Conclusion The most common bleeding pattern in patients with thrombocyte dysfunction is mucocutaneous bleeding. Some patients may suffer from life-threatening bleedings. Our study contributes to the literature because of five newly described mutations in GT patients. It may be hypothesed that the presence of prothrombotic mutation in patients with thrombocyte dysfunction may reduce the severity of bleedings. Disclosures: No relevant conflicts of interest to declare.

Mersin Üniversitesi Tıp Fakültesi Lokman Hekim Tıp Tarihi ve Folklorik Tıp Dergisi

Amaç: Bu çalışmanın amacı, Dr. Nuriye Peker’in “Zavallı Çocuklar” başlıklı kitabının, sosyal pedi... more Amaç: Bu çalışmanın amacı, Dr. Nuriye Peker’in “Zavallı Çocuklar” başlıklı kitabının, sosyal pedi-atrinin ülkemizdeki gelişim sürecindeki yerini karşılaştırmalı olarak incelemektir. Yöntem: Öncelikle Dr. Peker’in tıp eğitimi ve onun sosyal pediatriye yönelmesinde etkili olan unsur ve kişiler incelenmiştir. Akabinde “Zavallı Çocuklar” kitabı, içerik, söylem ve metodolojik açıdan analiz edilmiş, daha sonra kitapta yer alan sosyal pediatriye ilişkin yaklaşımların dönemin ulusal ve uluslararası mevzuatında nasıl yer aldığı irdelenmiştir. Son olarak, “Zavallı Çocuklar” kitap içeriği, 1968 yılında ülkemiz basılmış olan ilk sosyal pediatri ders kitabının yazarı olan Dr. Sabiha Özgür’ün tanımladığı ‘gelişmekte olan ülkelerde sosyal pediatrinin dört ana hedefi’ kapsamında tartışılmıştır. Bulgular: “Zavallı Çocuklar” kitabının yazıldığı dönemde ülkemizde ve dünyada etkin olan ‘nature-nurture’ tartışmasında ‘nature’ kavramının ön planda olduğu göz önünde bulundurulursa, Dr. Peker’in çocuk ile ...

Behçet syndrome (BS) is a chronic, multisystemic inflammatory condition with unanswered questions... more Behçet syndrome (BS) is a chronic, multisystemic inflammatory condition with unanswered questions regarding its pathogenesis and rational therapeutics. A microarray-based comparative transcriptomic analysis was performed to elucidate the molecular mechanisms of BS and identify any potential therapeutic targets. Twenty-nine BS patients (B) and 15 age and sex-matched control subjects (C) were recruited. Patients were grouped as mucocutaneous (M), ocular (O), and vascular (V) according to their clinical phenotypes. GeneChip Human Genome U133 Plus 2.0 arrays were used for expression profiling on peripheral blood samples of the patients and the control subjects. Following documentation of the differentially expressed gene (DEG) sets, the data were further evaluated with bioinformatics analysis, visualization, and enrichment tools. Validation of the microarray data was performed using qRT-PCR. When P <0.05 and fold change >2.0 were chosen, the following numbers of DEGs were obtained; B vs. C: 28, M

Journal of Pediatric Genetics, 2022

B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a heterogeneous leukemia subgroup. It ... more B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a heterogeneous leukemia subgroup. It has multiple sub-types that are likely to be classified by prognostic factors. Following a systematic literature review, this study analyzed the genes correlated with BCP-ALL prognosis (IKZF1, PAX5, EBF1, CREBBP, CRLF2, JAK2, ERG, CXCR4, ZAP70, VLA4, NF1, NR3C1, RB1, TSLP, ZNRF1, and FOXO3A), specifically their nucleotide variations and expression profiles in pediatric BCP-ALL samples. The study included 45 pediatric BCP-ALL patients with no cytogenetic anomaly and a control group of 10 children. The selected genes' hot-spot regions were sequenced using next-generation sequencing, while Polymorphism Phenotyping v2 and Supplemental Nutrition Assistance Program were used to identify pathogenic mutations. The expression analysis was performed using quantitative real-time polymerase chain reaction. The mutation analysis detected 328 variants (28 insertions, 47 indels, 74 nucleotide varia...

Hematology, Transfusion and Cell Therapy, 2021

Acta Haematologica, 2020

Introduction: Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by ... more Introduction: Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen. Hypofibrinogenemia is characterized by fibrinogen levels <1.5 g/L. Objective: In this study, we analyzed fibrinogen beta chain gene mutations in Turkish afibrinogenemia and hypofibrinogenemia patients. Methods: We evaluated 20 afibrinogenemia and hypofibrinogenemia patients and 80 healthy controls. We have sequenced all exons of the FGB gene using the DNA isolated from the peripheral blood samples of patients and controls. Results and Conclusion: We found a nonsense mutation in exon 4 at nucleotide 630 that encoded serine amino acid, and in the same exon a missense mutation of T to C at nucleotide 647, resulting in a transition from leucine to proline (p.L198P) in a child with hypofibrinogenemia. These mutations have been shown for the first time in the same pati...

OALib, 2018

Human SIRT1 is an enzyme that deacetylates the p53 tumor suppressor protein. It has been suggeste... more Human SIRT1 is an enzyme that deacetylates the p53 tumor suppressor protein. It has been suggested to modulate p53-dependent functions including DNA damage-induced cell death. Sirtuins are nicotinamide adenine dinucleotide dependent class III histone deacetylase proteins that play a crucial role in several cellular processes, including DNA repair, apoptosis, and lifespan. In this study, we investigated the relationship between sirtinols and apoptosis mechanism at leukemic cells. For this, we applied sirtinol to K-562 (chronic myeloid leukemia) and Jurkat (acute T-cell leukemia) cell lines at different dilutions in cell culture conditions. And Cdna isolated patient RNA samples, after that Caspase3, Bax, Bcl2 expression performed with used qRT-PCR technique and cells were stained by Annexin V method. According to the results of research, we identified that Sirtinol dilutions were increased in both K-562 and Jurkat, while the number of living cells was decreasing, the number of dead cells increased at 50 μM dilution. Sirtinol, an HDAC inhibitor in the direction of these results, has been observed to be a drug that can be effective in the treatment of CML as well as TALL .

Turkish journal of haematology : official journal of Turkish Society of Haematology, Jan 5, 2007

Blood, 2007

The most important problem in the treatment of Multiple Myeloma (MM) is the multi drug resistance... more The most important problem in the treatment of Multiple Myeloma (MM) is the multi drug resistance (MDR) observed before and after the treatment. For this reason in MM cases an early resistance to treatment can be developed or the disease can relapsed in early period. Yet, there has been no improved drug resistance against proteazom inhibitor Bortezomib (Bor), which is used alone or with other chemotherapeutic agents in resistant or relapsed MM cases. In this study, bortezomib resistant human MM cell lines; RPMI-8226, secreting lambda light chain, and ARH-77, secreting IgG, were developed and responsible resistance mechanisms were investigated. For this purpose, by exposing to the cells to sequentially gradual doses of Bor in vitro conditions, resistant cell lines were acquired throughout one year. The IC50 values for Bor were determined after 48 hour incubation by MTT cytotoxicity assay (IC50:1,16nM for RPMI-8226 and IC80:0,6nM for ARH-77) against wild type cells. Throughout one yea...

SDÜ Tıp Fakültesi Dergisi, 2018

Amaç: Histon deasetilazların değişmiş ifadesi hematolojik maligniteler için kanser tedavisinde he... more Amaç: Histon deasetilazların değişmiş ifadesi hematolojik maligniteler için kanser tedavisinde hedef olabilecek niteliktedir. HDAC mutasyonları ve anormal ifade seviyeleri çeşitli kanser tiplerinde ve özellikle hematolojik malignitelerde sıklıkla görülmekte olduğu, çocukluk çağı lösemi örneklerinde HDAC2, HDAC3, HDAC6, HDAC7 ve HDAC8 gen ifadelerinin sağlıklı çocuk kemik iliği örneklerine göre önemli derece yüksek olduğu rapor edilmiştir. Gereç ve Yöntem: Çalışmamızda 6 HDAC geninin gen ifade profilini çocukluk çağı akut lösemisinde kantitatif Real Time PCR yöntemi kullanılması ile tedavinin farklı zamanlarında belirlenmesi gerçekleştirilmiştir. Bulgular: Çalışmamız sonucunda çocukluk çağı lösemi örneklerinde HDAC genleri ifade seviyelerinin birbirine göre farklılık gösterdiği gözlenmiştir. Çalışmamızda; tedavi öncesinde, kontrol örneklerinin ifadelenme seviyelerine göre; HDAC2 ve HDAC9 ifadelenme seviyelerinin düşük, HDAC 4 ve HDAC 8 eşit seviyede ve son olarak HDAC 5 ve HDAC7 yüks...

Journal of Pediatric Research, Mar 1, 2019

Diamond-Gardner syndrome (DGS) is an autoimmune disease characterized by painful ecchymoses that ... more Diamond-Gardner syndrome (DGS) is an autoimmune disease characterized by painful ecchymoses that develop following emotional stress or trauma. The lesions are observed mostly in the extremities and these lesions are the result of autosensitization to extravasated erythrocytes after trauma. The majority of the patients diagnosed with this disease are composed of young women. In this case report, a teenager who had complaints of recurring painful ecchymoses with no related personal or familial background and later-diagnosed with DGS is presented. Although it is seen less commonly, DGS should be considered in the differential diagnosis of cutaneous lesions and haemorrhages of the childhood period, especially in adolescence.

PubMed, Dec 5, 1999

There different RFLP's on the p53 gene were studied in a healthy Turkish population. These RFLP's... more There different RFLP's on the p53 gene were studied in a healthy Turkish population. These RFLP's were located on the exon 4 (CD 47), exon 6 (CD 213) and intron 6 (A-G). CD 47 (C-T) was not present. CD 213 (G) occurred very rarely with a frequency of 0.0114. The frequency of the Int 6 A/G a alteration was found to be 0.70 for "G". The heterozygosity rate was 32.72%.

Gene Reports, Sep 1, 2020

Çocuk Enfeksiyon Dergisi, Mar 25, 2022

Clinical Cardiology, Apr 1, 2001

Buckground: Elevated plasma homocysteine level is an independent risk factor for cardiovascular d... more Buckground: Elevated plasma homocysteine level is an independent risk factor for cardiovascular disease. A common mutation (nucleotid 677C-T) in the gene coding for methylenetetrahydrofolate reductase (MTHFR) has been reported to reduce the enzymatic activity of MTHFR and is associated with elevated plasma levels of homocysteine, especially in subjects with low folate intake. Hypothesis: Methylenetetrah ydrofolate reductase T/T genotype may be a risk factor for premature MI in Turkish population who are known to have low folate levels. Methodc?: The study group was comprised of 96 men (aged <45 years) with premature myocardial infarction (MI) and 100 age-and gender-matched controls who had no history or clinical evidence of coronary artery disease (CAD) and/or MI. DNA was extracted from peripheral blood and genotypes were determined by polymerase chain reaction, restriction mapping with Hinfl, and gel electrophoresis. Conventional risk factors for CAD were prospectively documented. Results: Allele and genotype frequencies among cases and control subjects were compatible with Hardy-Weinberg equilibrium. The frequencies of T/T, C/T, and C/C genotypes among patients with MI and control subjects were 15.6,40.6, and 43.8% and 5, 35, and 60%, respectively. Multivariate analyses identified smoking, MTHFR C/T polymorphism, diabetes mellitus, family history of CAD, and hypertension as the independent predictors of premature MI. Defining patients with non-T/T genotype (C/C and C/T combined) as reference, the relative risk of MI for subjects with T/T genotype was 5.94 (95% confidence interval: 1.96-18.02, p =0.0016).

Journal of Paediatrics and Child Health, Jun 29, 2021

We read the paper reviewing paediatric facial paralysis, which appeared in a recent issue of the ... more We read the paper reviewing paediatric facial paralysis, which appeared in a recent issue of the journal with great interest. 1 Although the authors mentioned several different known causes of acquired facial nerve palsy, it is important to keep influenza A virus in mind as another recognised cause of facial palsy. For example, in a paper from Finland, 3 of 46 children with facial palsy had serological evidence of recent influenza A virus infection. 2 A 4-year-old girl was admitted to our Department of Paediatrics with fever (37.5 C) and clear nasal discharge. She later developed mouth drooping (Figs 1,2). Influenza A (H1N1) virus antigen was positive on a nasopharyngeal swab, using a rapid immunochromatic test (QuickVue Influenza A+B Test; Quidel Co., San Diego, CA, USA). Her facial palsy recovered within a week without any complications after supportive therapy. This clinical situation reminded us that influenza should also be considered as a causative agent in facial paralysis affecting children.

Çocuk Enfeksiyon Dergisi, Mar 25, 2022

Türk biyokimya dergisi, Dec 1, 2021

Objectives: Glucose-6-phosphate dehydrogenase (G6PD) has role in the Embden Meyerhof road. Any lo... more Objectives: Glucose-6-phosphate dehydrogenase (G6PD) has role in the Embden Meyerhof road. Any loss of its function causes NADPH to cease, leaving erythrocytes susceptible to oxidative damage resulting in acute hemolytic anemia attacks secondary to drugs or infection and favism. Because of X-linked recessive inheritance males are mainly affected. Being heterozygous, females have less severe clinical presentation. Case presentation: G6PD deficiency was suspected in a six-year-old girl from an Iraqi family with a history of yellowing of skin and darkening of urine after eating broad beans. Besides the patient, G6PD levels were found low in the father and in two sisters who showed no symptoms. The father was found hemizygous and the three sisters were found heterozygous for NM_000402.4c.1093G>A (p.A365T)(6.Ala365Thr) mutation while the mother was normal. Conclusions: G6PD enzyme deficiency can be seen in both genders, and it may be presented with different clinical manifestations even within the people having the same mutation.

Turkish Journal of Medical Sciences, Oct 21, 2021

Blood, Nov 15, 2013

Introduction and Aim Glanzmann’s thrombasthenia (GT) is an inherited disorder of platelet aggrega... more Introduction and Aim Glanzmann’s thrombasthenia (GT) is an inherited disorder of platelet aggregation, resulting from defective glycoprotein IIb/IIIa on platelet surface. Bernard Soulier Syndrome (BSS) is also an inherited disorder of platelet adhesion and associated with defective glycoprotein Ib-V-IX on platelet surface. Both of these disorders usually present with mucocutaneous bleedings. We aimed to evaluate the clinical and genetic characteristics of the patients diagnosed as BSS and GT in department of pediatric hematology of Meram Faculty of Medicine, retrospectively. Method Seven patients diagnosed with BSS and 20 patients diagnosed with GT were enrolled to the study. Medical records of patients were reviewed retrospectively. Glycoprotein IIb gen rearrangement was investigated in genetic department of Ankara University Medical School, Turkey. Mutational analysis for BSS was performed in Medicina Interna ed Oncologia Medica, Italy. The correlation between clinical outcome and genotyping was investigated. Results Of 20 patients of GT, 8 were male and 12 were female. Of 7 patients of BSS, all of them were female. Glycoprotein IIB gene rearrangement was detected in 7 patient of GT. 5 of 7 were newly described mutations in published literature. Mutations in GpIBB and GpIBA gene were detected in 7 patients with BSS. No correlation was observed among the clinical and genotype characteristics of patients both with GT and BSS. The most common patterns of bleeding were epistaxis and gum bleeding. Life threatening bleeding was seen in 5 of GT patients (4 gastrointestinal bleeding, 1 mediastinal hematoma) and 2 of BSS patients (1 splenic rupture and 1 gastrointestinal bleeding). No patients had died due to major bleedings. One patient with GT experienced spontaneous duodenal intramural bleeding resulting duodenal obstruction. One patient with BSS experienced spontaneous mediastinal hematoma. Although the BSS, it is interesting that the patient was able to control of mediastinal hematoma. Further investigations revealed the patient has prothrombotic mutation (heterozygous FV Leiden). Conclusion The most common bleeding pattern in patients with thrombocyte dysfunction is mucocutaneous bleeding. Some patients may suffer from life-threatening bleedings. Our study contributes to the literature because of five newly described mutations in GT patients. It may be hypothesed that the presence of prothrombotic mutation in patients with thrombocyte dysfunction may reduce the severity of bleedings. Disclosures: No relevant conflicts of interest to declare.

Mersin Üniversitesi Tıp Fakültesi Lokman Hekim Tıp Tarihi ve Folklorik Tıp Dergisi

Amaç: Bu çalışmanın amacı, Dr. Nuriye Peker’in “Zavallı Çocuklar” başlıklı kitabının, sosyal pedi... more Amaç: Bu çalışmanın amacı, Dr. Nuriye Peker’in “Zavallı Çocuklar” başlıklı kitabının, sosyal pedi-atrinin ülkemizdeki gelişim sürecindeki yerini karşılaştırmalı olarak incelemektir. Yöntem: Öncelikle Dr. Peker’in tıp eğitimi ve onun sosyal pediatriye yönelmesinde etkili olan unsur ve kişiler incelenmiştir. Akabinde “Zavallı Çocuklar” kitabı, içerik, söylem ve metodolojik açıdan analiz edilmiş, daha sonra kitapta yer alan sosyal pediatriye ilişkin yaklaşımların dönemin ulusal ve uluslararası mevzuatında nasıl yer aldığı irdelenmiştir. Son olarak, “Zavallı Çocuklar” kitap içeriği, 1968 yılında ülkemiz basılmış olan ilk sosyal pediatri ders kitabının yazarı olan Dr. Sabiha Özgür’ün tanımladığı ‘gelişmekte olan ülkelerde sosyal pediatrinin dört ana hedefi’ kapsamında tartışılmıştır. Bulgular: “Zavallı Çocuklar” kitabının yazıldığı dönemde ülkemizde ve dünyada etkin olan ‘nature-nurture’ tartışmasında ‘nature’ kavramının ön planda olduğu göz önünde bulundurulursa, Dr. Peker’in çocuk ile ...

Behçet syndrome (BS) is a chronic, multisystemic inflammatory condition with unanswered questions... more Behçet syndrome (BS) is a chronic, multisystemic inflammatory condition with unanswered questions regarding its pathogenesis and rational therapeutics. A microarray-based comparative transcriptomic analysis was performed to elucidate the molecular mechanisms of BS and identify any potential therapeutic targets. Twenty-nine BS patients (B) and 15 age and sex-matched control subjects (C) were recruited. Patients were grouped as mucocutaneous (M), ocular (O), and vascular (V) according to their clinical phenotypes. GeneChip Human Genome U133 Plus 2.0 arrays were used for expression profiling on peripheral blood samples of the patients and the control subjects. Following documentation of the differentially expressed gene (DEG) sets, the data were further evaluated with bioinformatics analysis, visualization, and enrichment tools. Validation of the microarray data was performed using qRT-PCR. When P <0.05 and fold change >2.0 were chosen, the following numbers of DEGs were obtained; B vs. C: 28, M

Journal of Pediatric Genetics, 2022

B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a heterogeneous leukemia subgroup. It ... more B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a heterogeneous leukemia subgroup. It has multiple sub-types that are likely to be classified by prognostic factors. Following a systematic literature review, this study analyzed the genes correlated with BCP-ALL prognosis (IKZF1, PAX5, EBF1, CREBBP, CRLF2, JAK2, ERG, CXCR4, ZAP70, VLA4, NF1, NR3C1, RB1, TSLP, ZNRF1, and FOXO3A), specifically their nucleotide variations and expression profiles in pediatric BCP-ALL samples. The study included 45 pediatric BCP-ALL patients with no cytogenetic anomaly and a control group of 10 children. The selected genes' hot-spot regions were sequenced using next-generation sequencing, while Polymorphism Phenotyping v2 and Supplemental Nutrition Assistance Program were used to identify pathogenic mutations. The expression analysis was performed using quantitative real-time polymerase chain reaction. The mutation analysis detected 328 variants (28 insertions, 47 indels, 74 nucleotide varia...

Hematology, Transfusion and Cell Therapy, 2021

Acta Haematologica, 2020

Introduction: Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by ... more Introduction: Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen. Hypofibrinogenemia is characterized by fibrinogen levels <1.5 g/L. Objective: In this study, we analyzed fibrinogen beta chain gene mutations in Turkish afibrinogenemia and hypofibrinogenemia patients. Methods: We evaluated 20 afibrinogenemia and hypofibrinogenemia patients and 80 healthy controls. We have sequenced all exons of the FGB gene using the DNA isolated from the peripheral blood samples of patients and controls. Results and Conclusion: We found a nonsense mutation in exon 4 at nucleotide 630 that encoded serine amino acid, and in the same exon a missense mutation of T to C at nucleotide 647, resulting in a transition from leucine to proline (p.L198P) in a child with hypofibrinogenemia. These mutations have been shown for the first time in the same pati...

OALib, 2018

Human SIRT1 is an enzyme that deacetylates the p53 tumor suppressor protein. It has been suggeste... more Human SIRT1 is an enzyme that deacetylates the p53 tumor suppressor protein. It has been suggested to modulate p53-dependent functions including DNA damage-induced cell death. Sirtuins are nicotinamide adenine dinucleotide dependent class III histone deacetylase proteins that play a crucial role in several cellular processes, including DNA repair, apoptosis, and lifespan. In this study, we investigated the relationship between sirtinols and apoptosis mechanism at leukemic cells. For this, we applied sirtinol to K-562 (chronic myeloid leukemia) and Jurkat (acute T-cell leukemia) cell lines at different dilutions in cell culture conditions. And Cdna isolated patient RNA samples, after that Caspase3, Bax, Bcl2 expression performed with used qRT-PCR technique and cells were stained by Annexin V method. According to the results of research, we identified that Sirtinol dilutions were increased in both K-562 and Jurkat, while the number of living cells was decreasing, the number of dead cells increased at 50 μM dilution. Sirtinol, an HDAC inhibitor in the direction of these results, has been observed to be a drug that can be effective in the treatment of CML as well as TALL .

Turkish journal of haematology : official journal of Turkish Society of Haematology, Jan 5, 2007