Hematopoietic Stem Cell Transplantation in Primary Immunodeficiencies in Brazil-a Survey of the Working Group on Paediatric Transplantation of the Brazilian Society of Bone Marrow Transplantation

Inst Crianca HCFMUSP, Sao Paulo, BrazilHosp Israelita Albert Einstein, Sao Paulo, BrazilInst Oncol Pediat, Sao Paulo, BrazilHosp Clin Porto Alegre, Porto Alegre, RS, BrazilUniv Fed Parana, Bone Marrow Transplantat Unit, BR-80060000 Curitiba, Parana, BrazilCtr Oncol & Hematol, Jau, BrazilUSP Ribeirao Preto, Hosp Clin, Ribeirao Preto, BrazilUniv Fed Minas Gerais, Belo Horizonte, MG, BrazilUniv Fed Rio de Janeiro, Rio De Janeiro, BrazilCtr Nacl Transplate Medula Ossea CEMO, Inst Nacl Canc, Rio De Janeiro, BrazilUniv Fed Parana, Paediat Intens Care Unit, BR-80060000 Curitiba, Parana, BrazilNatl Inst Canc INCA, Rio De Janeiro, BrazilHosp Israelita Albert Einstein, Hematol & Bone Marrow Transplantat Dept, Sao Paulo, BrazilWeb of Scienc

Biochemical and genetic analysis of butyrylcholinesterase (BChE) in a family, due to prolonged neuromuscular blockade after the use of succinylcholine

Butyrylcholinesterase (BChE) is a plasma enzyme that catalyzes the hydrolysis of choline esters, including the muscle-relaxant succinylcholine and mivacurium. Patients who present sustained neuromuscular blockade after using succinylcholine usually carry BChE variants with reduced enzyme activity or an acquired BChE deficiency. We report here the molecular basis of the BCHE gene underlying the slow catabolism of succinylcholine in a patient who underwent endoscopic nasal surgery. We measured the enzyme activity of BChE and extracted genomic DNA in order to study the promoter region and all exons of the BCHE gene of the patient, her parents and siblings. PCR products were sequenced and compared with reference sequences from GenBank. We detected that the patient and one of her brothers have two homozygous mutations: nt1615 GCA > ACA (Ala539Thr), responsible for the K variant, and nt209 GAT > GGT (Asp70Gly), which produces the atypical variant A. Her parents and two of her brothers were found to be heterozygous for the AK allele, and another brother is homozygous for the normal allele. Sequence analysis of exon 1 including 5′UTR showed that the proband and her brother are homozygous for –116GG. The AK/AK genotype is considered the most frequent in hereditary hypocholinesterasemia (44%). This work demonstrates the importance of defining the phenotype and genotype of the BCHE gene in patients who are subjected to neuromuscular block by succinylcholine, because of the risk of prolonged neuromuscular paralysis

Towards a Pathogenic Escherichia coli Detection Platform Using Multiplex SYBR®Green Real-Time PCR Methods and High Resolution Melting Analysis

Escherichia coli is a group of bacteria which has raised a lot of safety concerns in recent years. Five major intestinal pathogenic groups have been recognized amongst which the verocytotoxin or shiga-toxin (stx1 and/or stx2) producing E. coli (VTEC or STEC respectively) have received a lot of attention recently. Indeed, due to the high number of outbreaks related to VTEC strains, the European Food Safety Authority (EFSA) has requested the monitoring of the “top-five” serogroups (O26, O103, O111, O145 and O157) most often encountered in food borne diseases and addressed the need for validated VTEC detection methods. Here we report the development of a set of intercalating dye Real-time PCR methods capable of rapidly detecting the presence of the toxin genes together with intimin (eae) in the case of VTEC, or aggregative protein (aggR), in the case of the O104:H4 strain responsible for the outbreak in Germany in 2011. All reactions were optimized to perform at the same annealing temperature permitting the multiplex application in order to minimize the need of material and to allow for high-throughput analysis. In addition, High Resolution Melting (HRM) analysis allowing the discrimination among strains possessing similar virulence traits was established. The development, application to food samples and the flexibility in use of the methods are thoroughly discussed. Together, these Real-time PCR methods facilitate the detection of VTEC in a new highly efficient way and could represent the basis for developing a simple pathogenic E. coli platform

Protocolli e Linee Guida attivi presso il Dipartimento di Scienze Mediche, Oncologiche e Radiologiche

Monografia contenete informazioni sul trattamento delle principali neoplasi

Protocolli e Linee Guida attivi presso il Dipartimento di Scienze Mediche, Oncologiche e Radiologiche.

Monografia contenente informazioni sul trattamento delle principali neoplasi

Protocolli sperimentali e orientamenti terapeutici per il trattamento delle pi\uf9 freqenti neoplasie.

Monografia contenete informazioni sul trattamento delle principali neoplasi

Innovation potential and impact of ancient varieties. Promotion strategies for the durum wheat variety Senatore Cappeli

The article investigates a recent trend in the food market (based on cereals), driven by a feeling of "nostalgia", which is often opposed to the concept of "innovation", and is justified by the mistrust in the undesirable effects of technological change: a sort of nostalgic "retromania". However, this trend can also be framed within a more complex phenomenon, which is halfway between past and future: we can call it "innovative nostalgia". To this end, a survey was conducted on a sample of consumers of cereal products. The results of the survey suggest that it is possible to build a strategy for the valorisation of ancient varieties of durum wheat, which are able to mitigate the negative aspects of industrial technological change. The survey shows the usefulness of focusing on elements such as health and organic farming