Novel Βeta (β)-Thalassemia Mutation in Turkish Children

Beta (β)-thalassemia is the most frequently observed hereditary blood disorder in the world. It is characterized by deficiency of hemoglobin β-globin gene and is also a profoundly heterogeneous both at the molecular and clinical level. In the case of β-thalassemia, there is reduced (β⁺ type) or absent (β^o type) synthesis of the beta chains of hemoglobin. β-Thalassemia clinically occurs in three main forms: major, intermedia and minor according to requirement of transfusion. The objective of this study was to evaluate β-thalassemia mutations in 89 patients ranging from 2 months to 16 years of age, who enrolled to Medical School Research and Training Hospital, Gaziantep University. The direct DNA sequence analysis was performed for mutation scanning of β-globin gene. 89 children with β-Thalassemia including all types were analyzed, 16 different β-thalassemia mutations were detected. We have also identified a novel mutation (HBB.c.-80delT, rs397509430) in the promoter region (−30 TATA box) of β-globin gene, and clinical data of patient having novel mutation was given. The β-Thalassemia mutations were determined as β-Thalassemia major type in 42 patients (47.19 %), β-Thalassemia intermedia in 4 (4.49 %), β-Thalassemia minor in 43, (48.31 %) patients. The most frequent mutation was IVS I-110 G>A, followed by IVS I-1 G>A, IVS I-6 T>C, IVS II-1 G>A, respectively.     

A case of asymptomatic cardiopericardial hydatid cyst

Cases with cardiac hydatid cyst disease are uncommon, being approximately 0.2-2% of all cases. Most cardiac hydatid cysts are located in the interventricular septum or left ventricular wall. Pericardial location is very rare. We report a 42-year old Turkish man with pericardial hydatid cyst disease who was otherwise asymptomatic, having no cardiac symptomatology. The most appropriate therapeutical option for a hydatid cyst is surgical removal of the cyst mass. However, our patient refused surgical treatment and thus medical treatment with albendazole was initiated. Following the first month of the drug therapy, pericardial effusion disappeared. The cystic nature of the mass disappeared and was solidified at the 6th month of treatment. The patient has been followed-up by us asymptomatically.     

Bilateral lower extremity arterial thromboembolism mimicking conversion disorder

Thromboembolic causes of acute limb ischemia are not frequent; however, an immediate true therapy is needed to save the extremity. Here we presented a case with bilateral lower extremity arterial thromboembolism mimicking conversion disorder. Conversion disorder and acute arterial embolism can be confronted in different patterns. This case proved us that anamnesis can be misleading and manipulating to evaluate patients. Furthermore, our report may potentially highlight the inadequacies in the guidelines for diagnosis.     

Multidetector row CT of the liver

CT has always played a major role in the imaging of the liver despite continuous challenge by ultrasound and MR imaging. Introduction of multidetector row CT technology has helped CT to excel in its already established indications and has expanded its capabilities by adding new clinical indications, such as CT angiography or liver perfusion. This article discusses the advantages of multidetector row CT scanners in liver imaging, examines the guidelines to improve image quality by optimizing scanning protocols and contrast administration strategies, and reviews the current and potential clinical applications.     

Early onset of a decreased intracellular magnesium and phosphate concentration in smooth muscle cell of SHR.

A decrease in total magnesium content is not a direct proof of a decreased magnesium ion concentration. It could reflect a phosphate alteration or an ATP metabolism disorder. Plasma phosphate levels are lower in spontaneously hypertensive rats (SHRs) than in Wistar-Kyoto rats (WKYs), and defects in membrane regulation or mitochondrial ATP synthase occur. Only sparse data exist concerning cellular magnesium and phosphate concentrations in hypertensive cells. In aortic smooth muscle cells from 10 SHRs of the Münster strain and 10 age-matched normotensive WKY rats, the intracellular phosphate and magnesium content was measured by electron probe X-ray microanalysis (Camscan CS 24 apparatus, Cambridge, U.K.). The Mg++ content was 0.09 +/- 0.15 g/kg dry weight in SHRs versus 1.15 +/- 0.10 g/kg dry weight in WKY rats (p < 0.01). Vascular smooth muscle phosphate content was 23.6 +/- 0.79 g/kg dry weight in WKY rats versus 15.81 +/- 1.22 g/kg dry weight in SHRs (p < 0.01). In aortic smooth muscle cells of one month old SHRs intracellular magnesium was measured as 1.05 +/- 0.08 versus 1.09 +/- 0.09 g/kg dry weight in WKYs. Intracellular phosphate concentration in one month old SHRs was 18.71 +/- 2.41 versus 21.36 +/- 1.25 g/kg dry weight in WKYs (eight animals in each group). Aortic smooth muscle cells of SHRs are caracterized by markedly lowered intracellular phosphate and magnesium concentrations, resulting in an altered ATP-metabolism, as described earlier. Possibly a membrane defect or a magnesium deficiency or disturbed magnesium channels are responsible for the early onset in the pathogenesis of primary hypertension.