Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

Objective To perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state of Parana. Patients and methods Twenty-five CMS patients from 18 independent families were included in the study. Known CMS genes were sequenced and restriction digest for the mutation RAPSN p.N88K was performed in all patients. Results We identified recessive mutations of CHRNE in ten families, mutations in DOK7 in three families and mutations in COLQ, CHRNA1 and CHRNB1 in one family each. The mutation CHRNE c. 70insG was found in six families. We have repeatedly identified this mutation in patients from Spain and Portugal and haplotype studies indicate that CHRNE c. 70insG derives from a common ancestor. Conclusions Recessive mutations in CHRNE are the major cause of CMS in Southern Brazil with a common mutation introduced by Hispanic settlers. The second most common cause is mutations in DOK7. The minimum prevalence of CMS in Parana is 0.18/100 000

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

Objective To perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state of Parana. Patients and methods Twenty-five CMS patients from 18 independent families were included in the study. Known CMS genes were sequenced and restriction digest for the mutation RAPSN p.N88K was performed in all patients. Results We identified recessive mutations of CHRNE in ten families, mutations in DOK7 in three families and mutations in COLQ, CHRNA1 and CHRNB1 in one family each. The mutation CHRNE c. 70insG was found in six families. We have repeatedly identified this mutation in patients from Spain and Portugal and haplotype studies indicate that CHRNE c. 70insG derives from a common ancestor. Conclusions Recessive mutations in CHRNE are the major cause of CMS in Southern Brazil with a common mutation introduced by Hispanic settlers. The second most common cause is mutations in DOK7. The minimum prevalence of CMS in Parana is 0.18/100 000

Bayesian Analysis of Curves Shape Variation Through Registration and Regression

This manuscript reviews the use of Bayesian hierarchical curve registration in Biostatistics and Bioinformatics.Several models allowing for unit-specific random time scales are discussed and applied to longitudinal dataarising in biomedicine, pharmacokinetics and time-course genomics. We consider representations of random functionals based on P-spline priors. Under this framework, straightforward posterior simulation strategies are outlined for inference.Beyond curve registration, we discuss jointregression modeling of both random effects and population level functional quantities. Finally, the use of mixture priors is discussed in the setting of differential expression analysis

Formation of a new copper(II) dimer through heterocyclic ligand ring opening reaction: supramolecular features and magnetic properties

FINANCIADORA DE ESTUDOS E PROJETOS - FINEPCOORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPESTwo new compounds were synthesized and characterized in this work: the heterocycle (Z)-1-(4-(hydroxyimino)-3,5-dimethyl-1-(methylcarbamothioyl)-4,5-dihydro-1H-pyrazol-5-yl)-4- methylthiosemicarbazide and a copper(II) thiosemicarbazonato dimeric complex. Green prismatic single crystals of the dimer were obtained by the reaction of the heterocycle with copper(II) chloride dihydrate. Both compounds were essentially characterized by spectroscopic methods and X-ray diffraction crystallography. The crystal structures revealed molecules connected through supramolecular hydrogen bond interactions and copper(II) centers in a slightly distorted square-pyramidal environment. SQUID magnetometry performed for the dimer revealed both ferromagnetic and antiferromagnetic interactions in the studied complex, presenting a critical temperature of 19 K. (C) 2016 Elsevier B.V. All rights reserved.Two new compounds were synthesized and characterized in this work: the heterocycle (Z)-1-(4-(hydroxyimino)-3,5-dimethyl-1-(methylcarbamothioyl)-4,5-dihydro-1H-pyrazol-5-yl)-4- methylthiosemicarbazide and a copper(II) thiosemicarbazonato dimeric complex. Green prismatic single crystals of the dimer were obtained by the reaction of the heterocycle with copper(II) chloride dihydrate. Both compounds were essentially characterized by spectroscopic methods and X-ray diffraction crystallography. The crystal structures revealed molecules connected through supramolecular hydrogen bond interactions and copper(II) centers in a slightly distorted square-pyramidal environment. SQUID magnetometry performed for the dimer revealed both ferromagnetic and antiferromagnetic interactions in the studied complex, presenting a critical temperature of 19 K.1128410418FINANCIADORA DE ESTUDOS E PROJETOS - FINEPCOORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPESFINANCIADORA DE ESTUDOS E PROJETOS - FINEPCOORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPESSem informaçãoSem informaçãoWe acknowledge Prof. Dr. Henrique de Santana (UEL) for his very important contribution with Raman spectroscopyCentro de Microscopia Eletrônica do Sul (CEMEeSUL/FURG) for the powder X-ray diffraction and scanning electron microscopy analysesLaboratório de Cristalografia (UFSC)Financiadora de Estudos e Projetos (FINEP) and Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)