?-Globin gen kümesini ıçine alan büyük delesyonel mutasyonların Gap-PCR ile taranması türk tipi ınversiyon/delesyon (??)0 mutasyonunun antalya'da yüksek sıklıkta olduğunu gösterdi]

Objective: Although the calculated carrier frequency for point mutations of the beta-globin gene is around 10% for Antalya Province, nothing is known about the profile of large deletional mutations involving the beta-globin gene. In this study, we aimed to screen common deletional mutations in the beta-globin gene cluster in patients for whom direct DNA sequencing was not able to demonstrate the mutation(s) responsible for the disease phenotype. Materials and Methods: Thirty-one index cases selected with a series of selection events among 60 cases without detected beta-globin gene mutation from 580 thalassemia-related cases tested by direct sequencing over the last 4 years in our diagnostic center were screened for the most common 8 different large deletional mutations of the beta-globin gene cluster by gap-PCR. Results: We detected 1 homozygous and 9 heterozygous novel unrelated cases for the Turkish inversion/deletion (delta beta)(0) mutation in our series of 31 cases. Our study showed that the Turkish inversion/deletion (delta beta)(0) mutation per se accounts for 16.6% of the unidentified causative alleles and also accounts for 1.5% of all detected mutations over the last 4 years in our laboratory. Conclusion: Since molecular diagnosis of deletional mutations in the beta-globin gene cluster warrants different approaches, it deserves special attention in order to provide prenatal diagnosis and prevention opportunities to the families involved. We conclude that the Turkish inversion/deletion (delta beta)(0), as the most prevalent deletional mutation detected so far, has to be routinely tested for in Antalya, and the gap-PCR approach has valuable diagnostic potential in the patients at risk

Gap-PCR Screening for Common Large Deletional Mutations of β-Globin Gene Cluster Revealed a Higher Prevalence of the Turkish Inversion/Deletion (δβ)0 Mutation in Antalya

INTRODUCTION: Although the calculated carrier frequency for point mutations of the β-globin gene is around 10% for Antalya Province, nothing is known about the profile of large deletional mutations involving the β-globin gene. In this study, we aimed to screen common deletional mutations in the β-globin gene cluster in patients for whom direct DNA sequencing was not able to demonstrate the mutation(s) responsible for the disease phenotype. METHODS: Thirty-one index cases selected with a series of selection events among 60 cases without detected β-globin gene mutation from 580 thalassemia-related cases tested by direct sequencing over the last 4 years in our diagnostic center were screened for the most common 8 different large deletional mutations of the β-globin gene cluster by gap-PCR. RESULTS: We detected 1 homozygous and 9 heterozygous novel unrelated cases for the Turkish inversion/deletion (δβ)0 mutation in our series of 31 cases. Our study showed that the Turkish inversion/ deletion (δβ)0 mutation per se accounts for 16.6% of the unidentified causative alleles and also accounts for 1.5% of all detected mutations over the last 4 years in our laboratory. DISCUSSION AND CONCLUSION: Since molecular diagnosis of deletional mutations in the β-globin gene cluster warrants different approaches, it deserves special attention in order to provide prenatal diagnosis and prevention opportunities to the families involved. We conclude that the Turkish inversion/deletion (δβ)0, as the most prevalent deletional mutation detected so far, has to be routinely tested for in Antalya, and the gap- PCR approach has valuable diagnostic potential in the patients at risk

Gap-PCR Screening for Common Large Deletional Mutations of β-Globin Gene Cluster Revealed a Higher Prevalence of the Turkish Inversion/Deletion (δβ)0 Mutation in Antalya

Objective: Although the calculated carrier frequency for point mutations of the β-globin gene is around 10% for Antalya Province, nothing is known about the profile of large deletional mutations involving the β-globin gene. In this study, we aimed to screen common deletional mutations in the β-globin gene cluster in patients for whom direct DNA sequencing was not able to demonstrate the mutation(s) responsible for the disease phenotype. Materials and Methods: Thirty-one index cases selected with a series of selection events among 60 cases without detected β-globin gene mutation from 580 thalassemia-related cases tested by direct sequencing over the last 4 years in our diagnostic center were screened for the most common 8 different large deletional mutations of the β-globin gene cluster by gap-PCR. Results: We detected 1 homozygous and 9 heterozygous novel unrelated cases for the Turkish inversion/deletion (δβ)0 mutation in our series of 31 cases. Our study showed that the Turkish inversion/ deletion (δβ)0 mutation per se accounts for 16.6% of the unidentified causative alleles and also accounts for 1.5% of all detected mutations over the last 4 years in our laboratory. Conclusion: Since molecular diagnosis of deletional mutations in the β-globin gene cluster warrants different approaches, it deserves special attention in order to provide prenatal diagnosis and prevention opportunities to the families involved. We conclude that the Turkish inversion/deletion (δβ)0, as the most prevalent deletional mutation detected so far, has to be routinely tested for in Antalya, and the gapPCR approach has valuable diagnostic potential in the patients at risk

A lethal but treatable complication: free wall rupture after acute myocardial infarction

A 43-year-old male patient was admitted to coronary intensive care unit with the diagnosis of acute inferolateral myocardial infarction and with a picture of cardiogenic shock. In physical examination, systolic blood pressure was 50 mmHg and diastolic blood pressure could not be taken. The patient was diagnosed with cardiogenic shock and was started on saline, dopamine and dobutamine infusion. His blood pressure did not increase although the dosage of positive inotropic agents was increased. A cardiac tamponade revealed with urgent echocardiographic evaluation and pericardiocentesis was carried out. Blood pressure returned to normal range within hours after pericardiosentesis. Echocardiographic examination performed on the second day of AMI on the asymptomatic patient revealed thrombosed myocardial rupture. The patient was referred to emergency surgery with the diagnosis of three-vessel disease and myocardial rupture according to urgent angiography. In the operation, the ruptured region in the ventricle free wall was primarily repaired. By-pass surgery was performed with saphenous vein graft to the LAD and CV-OM1 coronary arteries

Atraumatic Osteonecrosis After Estrogen Replacement Therapy Associated with Low Protein S Level in a Patient with Turner Syndrome

Atraumatic osteonecrosis has been associated with a variety of clinical conditions including corticosteroid usage, alcoholism, infections, hyperbaric events, storage disorders, marrow-infiltrating diseases, coagulation defects, and some autoimmune diseases. Osteonecrosis due to thrombophilia is an extremely rare condition with only few cases reported previously in the literature. Hormone-replacement therapies cause increased risk of venous thrombosis, probably by causing a synergistic effect with inherited clotting defects. In this article, we report a young female with Turner syndrome, who developed avascular necrosis of the femoral head during treatment with oral estrogen, which was associated with low protein S levels.WoSScopu

Severe Arterial Thrombophilia Associated with a Homozygous Mthfr Gene Mutation (A1298C) in a Young Man with Klinefelter Syndrome

Klinefelter syndrome (KS) is the most common sex chromosome disorder in men. It may be associated with an increased risk for venous thrombosis and thromboembolism, which is partially explained by hypofibrinolysis due to androgen deficiency. Additional genetic or acquired thrombophilic states have been shown in KS patients complicated with venous thrombosis as isolated case reports. Arterial thrombotic events had not been previously reported in KS. In this study, a young man with KS who developed acute arterial thrombosis during testosterone replacement therapy is presented. He was homozygous for the A1298C mutation of the methylenetetrahydrofolate reductase (MTHFR) gene.WoSScopu

Is there a correlation between severity of trauma and serum trace element levels?

Amaç: Eser elementlerden çinko ve bakır, yara ve kırık iyileşmesinde etkilidir. Bu çalışmada, travma hastalarında MESS (mangled extremity severity score) ve MESI (mangled extremity syndrome index) ile serum çinko ve bakır düzeyleri arasındaki bağıntı ileriye dönük olarak araştırıldı. Çalışma planı: On yedi travma hastasının (11 kadın, 6 erkek; ort. yaş 41.6; dağılım 11-73) MESS ve MESI skorları hesaplandı. Travmanın yedinci gününde kan alınarak elde edilen serumlarda çinko ve bakır düzeyleri ölçüldü. Eser elementlerin ölçümünde atomik absorpsiyon spektrofotometresi kullanıldı. Sonuçlar: Serum çinko ve bakır düzeyleri ile MESS (sırasıyla r=-0.65 ve r=-0.76) ve MESI (sırasıyla r=-0.83 ve r=-0.77) skorları arasında anlamlı derecede negatif korelasyon bulundu (p<0.05). Çıkarımlar:Travmanın şiddeti arttıkça serum eser element düzeyi düşmektedir.Travma hastalarının tedavisinde eser element replasmanı yapılması tedavinin önemli bir bölümünü oluşturur.Objectives: Trace elements zinc and copper are effective in wound and fracture healing. In this prospective study, correlations between mangled extremity severity score (MESS) and mangled extremity syndrome index (MESI) and serum zinc and copper levels were investigated in trauma patients. Methods: Seventeen trauma patients (11 females, 6 males; mean age 41.6 years; range 11 to 73 years) were evaluated with respect to MESS and MESI scores. On the seventh day of trauma, serum samples were obtained to determine zinc and copper levels by atomic absorption spectrophotometry. Results: Serum levels of zinc and copper showed significant negative correlations with both MESS (r=-0.65 and r=-0.76, respectively) and MESI (r=-0.83 and r=-0.77, respectively) scores (p<0.05). Conclusion: The severity of trauma is associated with significant decreases in serum levels of trace elements. Thus, trace element supplementation may be an important aspect of treatment in trauma patients

Intravenous Thrombolytic Therapy in Acute Stroke: Problems and Solutions

Akut iskemik inme tedavisinin kritik elementlerinin başında gelen intravenöz doku plazminojen aktivatörü (tPA) kullanımının yirmi yılı aşkın süre içinde ülkemizde yeterince yaygınlaşamamasının başta gelen nedenlerinden biri, kullanımına dair birçok sorunun yanıtsız kalmasıdır. Ancak, son gelişmeler ile bu soruların pek çoğuna yeterli açıklamanın getirilebilmiş olması önemli bir anlayış değişikliğine yol açmaktadır. Bu makalede akut inmede tPA tedavisi ile ilgili uzmanlarımızın yönelttiği birincil olarak nörolojik sorulara ilişkin yanıt ve açıklamalar mevcut literatür ışığında etraflıca ele alınmış ve herbiri için net tavsiyelerde bulunulmuşturUse of intravenous tissue plasminogen activator (tPA) is one of the key elements of acute ischemic stroke management. Its use has not become widespread, and has faced significant problems in our country for more than a quarter of a century most probably due to many unanswered questions about issues related with daily practice. However, recent developments, which adequately focused and found solutions for most of these problems and questions, have led to a major change of point of view and understanding of the hyperacute management of stroke. This article, in the light of the relevant literature, discusses and provides clear recommendations for questions directed by neurologists practicing in Turkey mainly about typical neurologic issues faced in the setting of tPA use for acute strok

Indium rich InGaN solar cells grown by MOCVD

This study focuses on both epitaxial growths of InxGa1-xN epilayers with graded In content, and the performance of solar cells structures grown on sapphire substrate by using metal organic chemical vapor deposition. The high resolution X-ray and Hall Effect characterization were carried out after epitaxial InGaN solar cell structures growth. The In content of the graded InGaN layer was calculated from the X-ray reciprocal space mapping measurements. Indium contents of the graded InGaN epilayers change from 8.8 to 7.1 % in Sample A, 15.7-7.1 % in Sample B, and 26.6-15.1 % in Sample C. The current voltage measurements of the solar cell devices were carried out after a standard micro fabrication procedure. Sample B exhibits better performance with a short-circuit current density of 6 mA/cm(2), open-circuit voltage of 0.25 V, fill factor of 39.13 %, and the best efficiency measured under a standard solar simulator with one-sun air mass 1.5 global light sources (100 mW/cm(2)) at room temperature for finished devices was 0.66 %