Familial amyloid polyneuropathy associated with TTRSer50Arg mutation in two Iberian families presenting a novel single base change in the mutant gene

Amyloid. 2007 Jun;14(2):147-52. Familial amyloid polyneuropathy associated with TTRSer50Arg mutation in two Iberian families presenting a novel single base change in the mutant gene. Munar-Qués M, Masjuan J, Coelho T, Moreira P, Viader-Farré C, Saraiva MJ. Grupo de Estudio de la PAF, Plaza Olivar 5, 07002 Palma de Mallorca, Majorca, Spain. [email protected] Abstract We present two families, from Spain and Portugal, with familial amyloid polyneuropathy (FAP) associated with the mutation TTRSer50Arg. This mutation was first described in two Japanese patients from independent families and later in a French-Italian patient and a Vietnamese family. The two families presented here, are the first to be diagnosed with this mutation in the Iberian Peninsula. In the patients of both families, FAP was very aggressive as they rapidly developed multiple symptoms with progressive deterioration; we emphasize the presence of severe orthostatic hypotension in the Spanish proband which confined him to a wheelchair. This proband was the first patient with this mutation to have undergone liver transplantation and results were encouraging. The mutation was detected in four patients and one disease-free relative by DNA sequencing of exon 3 and induced mutation restriction analysis. The most outstanding feature was the single base transversion A to C in codon 50 (CGT instead of AGT), whereas in both Japanese patients and the French-Italian patient it was T to G (AGG instead of AGT). To our knowledge only six FAP mutations with more than one single nucleotide mutation for the same codon have been reported to date. PMID: 17577688 [PubMed - indexed for MEDLINE

A study of multiple deliveries in Portugal: indications of an Iberian Peninsula Pattern

"First published online 13 August 2013"Information on multiple deliveries with regard to Portugal is scarce. Based on data provided by the Portuguese Institute of Statistics (INE), the rates for double and triple deliveries were calculated since 1930. The results obtained show for twins a uniform temporal pattern up to the 1970s. At this time rates decreased, but later they gradually recovered, reaching their maximum level in 2010. For triplets, the highest rates occurred between 1999 and 2002. For the period 1988-2011, the rates of multiple deliveries were related to a set of variables recorded in the INE database on live births. Significant differences (p < .001) between simple and multiple deliveries were obtained for maternal age, parity and marital status. Considering the year when the delivery occurred, significant differences (p < .001) persisted for maternal age regardless of the year. For the type of mating, significance was consistently found since the year 2002 (either by using the marital or the cohabitation criteria), and for parity since 2003. With regard to territorial variation, throughout seven periods between 1930 and 2011, the rates among the 20 administrative Portuguese territories, including the two insular districts of Açores and Madeira, were mostly stable for twinning rates, with a minimum level in 1970-1989. Regarding triplets, the greatest inter-district variation was found after 1980. The results of the Portuguese study on multiple deliveries are interpreted in the context of the Iberian Peninsula based on findings reported for Spain.The authors thank the Institute for Statistics of Portugal for the facilities given in order to obtain the data on which this article is based. This study has been partly supported by the project 'Urban Spaces: Demographic and Socialdynamics (XVII-XX centuries)', reference code PTDC/HIS-HIS/099228/2008, co-financed by the program COMPETE - Operational Program for Factors of Competitiveness, funded by FEDER, and by Portugal's state financed Foundation for Science and Technology as well by Project CGL2008-03737 (Spain). The authors also thank Erik Lundin for revising the article