Thalassemia mutations in Gaziantep, Turkey

Ninety-eight postnatal and six prenatal cases of thalassemia were studied by the reverse dot-blot hybridization technique in the city of Gaziantep, Turkey. We found the following mutations: IVS 1.110 (G>A) in 29.1%, IVS 2.1 (G>A) in 12.3%, IVS 1.1 (G>A) in 7.7%, Codon 8 (-AA) in 5.6%, -30 (T>A) in 4.6%, IVS 1.6 (T>C) in 4.6%, Codon 39 (C>T) in 3.6%, Codon 44 (-C) in 3.1%, IVS 2.745 (C>G) in 1.5%, Codon 8/9 (+G) in 2.1%, Codon 36/37 (-T) in 2.1%, IVS 1.5 (G>C) in 2.1%, Codon 22 (7pb del) in 0.5%, Codon 5 (-CT) in 0.5% while 20.9% were undetermined. 54 of the thalassemia patients were homozygotes, 12 were compound heterozygous and 31 were heterozygotes. In one allele of 5 thalassemia patients, - thalassemia mutation (3.7 single gene deletions in 1 patient, anti-3.7 gene triplication in 4 patients) wasdetermined at the same time. Finally, this is the first comprehensive study in this region and percentage of and - globin genes mutation is 2.6 and 79.4%, respectively

Association of Gln27Glu polymorphism of the β-2- adrenergic receptor with preeclampsia

The aim of the study was to assess the role of the β-2-adrenoceptor (ADRB2) polymorphisms occurring at amino acid positions 16 (arginin to glycine) and 27 (glutamine to glutamic acid) in preeclampsia. A group of 66 patients with preeclampsia and 72 control subjects were analyzed for the Arg16Gly and Gln27Glu polymorphisms of the ADRB2 by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Comparisons of the ADRB2 genotypes or alleles between different groups were performed using chi-square test. We found a significant association (P = 0.01) between the Gln27Glu substitution and preeclampsia. The Glu27 allele and Glu/Glu and Gln/Glu genotypes were significantly more common in preeclampsia group when compared with control subjects (25 versus 39%, P = 0.02 and 14 versus 5%, 50 versus 39%, P = 0.01, respectively). Our results imply that the existence of Glu27 allele may confer susceptibility to preeclampsia in Turkish population.Key words: β-2-Adrenoceptor, preeclampsia, polymorphism

Pleurodese: técnica e indicações Pleurodesis: technique and indications

O derrame pleural recidivante é uma situação clínica comum que compromete a qualidade de vida dos pacientes, em especial dos portadores de doença oncológica em estágio avançado. A abordagem terapêutica do espaço pleural é variada, incluindo procedimentos agressivos como a pleurectomia. A pleurodese é a técnica mais freqüentemente utilizada, podendo ser induzida tanto através da inserção de cateteres pleurais, como por procedimentos cirúrgicos amplos (toracotomia). São vários os agentes esclerosantes indicados, incluindo o talco, que é o mais utilizado, o nitrato de prata e recentemente as citocinas proliferativas. Este artigo resume as principais abordagens do derrame pleural recidivante e particularmente da pleurodese, suas indicações, vantagens e desvantagens para a aplicação na prática diária do pneumologista.<br>Recurrent pleural effusion, which is commonly seen in clinical practice, compromises patient quality of life, especially in patients with advanced malignant disease. The therapeutic approach to the pleural space involves a wide range of techniques, including aggressive procedures such as pleurectomy. Among such techniques, pleurodesis is the most frequently used. Pleurodesis can be induced through the insertion of pleural catheters, as well as through major surgical procedures (such as thoracotomy). There are various recommended sclerosing agents, including talc (which is the most widely used), silver nitrate and, recently, proliferative cytokines. This article summarizes the principal approaches to the treatment of recurrent pleural effusion, pleurodesis in particular, addressing the indications for, as well as the advantages and disadvantages of, their application in daily pulmonology practice