Mitochondrial tRNA Valine in Cardiomyopathies

Mitochondrial respiratory chain disorders are a heterogeneous group of diseases that clinically involve multiple tissues although they tend to mainly affect nervous system and skeletal muscle. The predominance of neurologic and neuromuscular manifestations in mitochondrial diseases has generally masked the presence of other, but not less important, clinical phenotypes, such as cardiac complications. Nowadays, mitochondrial defects are being increasingly recognized to play an important role in the pathogenesis of a subgroup of cardiomyopathies produced by defects in the energetic metabolism (mitochondrial cardiomyopathies). These diseases can result from mutations in either nuclear or mitochondrial encoded genes although mitochondrial DNA mutations are more frequent. In fact, cardiac conduction abnormalities have been associated with different mtDNA rearrangements. In a same way, sporadic or inherited mutations in mitochondrial DNA specifically in the mitochondrial transfer ribonucleic acid genes (mostly in the tRNALeu(UUR) and tRNAIle) have also been associated with hypertrophic and dilated cardiomyopathy. Mitochondrial diseases caused by mutations in the mitochondrial tRNAVal gene (MT-TV) are not very frequent. However, a relatively high percentage of mutations in this gene have been associated with mitochondrial cardiomyopathy. Besides, functional and molecular analyses suggest that the MT-TV gene should be routinely considered in the diagnosis when there is a high suspicion of mitochondrial cardiomyopathy. Finally, the increasingly importance of the role that this gene has begun to play in the pathophysiology of mitochondrial cardiomyopathies indicates that future studies about the molecular mechanisms that could explain why the cardiomyopathy phenotype appears must be carried ouThis work was supported by grants of the Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (grants PI 07/0167, PI 10/0703 to R.G. and PI06/0205, PS09/00941 to B.B.) and Comunidad de Madrid (grant number S2010/BMD-2402)

Lung diffusion in a 14-day swimming altitude training camp at 1850 meters

Swimming exercise at sea level causes a transient decrease in lung diffusing capacity for carbon monoxide (DLCO). The exposure to hypobaric hypoxia can affect lung gas exchange, and hypoxic pulmonary vasoconstriction may elicit pulmonary oedema. The purpose of this study is to evaluate whether there are changes in DLCO during a 14-day altitude training camp (1850 m) in elite swimmers and the acute effects of a combined training session of swimming in moderate hypoxia and 44-min cycling in acute normobaric severe hypoxia (3000 m). Participants were eight international level swimmers (5 females and 3 males; 17-24 years old; 173.5 ± 5.5 cm; 64.4 ± 5.3 kg) with a training volume of 80 km per week. The single-breath method was used to measure the changes in DLCO and functional gas exchange parameters. No changes in DLCO after a 14-day altitude training camp at 1850 m were detected but a decrease in alveolar volume (VA; 7.13 ± 1.61 vs. 6.50 ± 1.59 L; p = 0.005; d = 0.396) and an increase in the transfer coefficient of the lung for carbon monoxide (KCO; 6.23 ± 1.03 vs. 6.83 ± 1.31 mL·min−1·mmHg−1·L−1; p = 0.038; d = 0.509) after the altitude camp were observed. During the acute hypoxia combined session, there were no changes in DLCO after swimming training at 1850 m, but there was a decrease in DLCO after cycling at a simulated altitude of 3000 m (40.6 ± 10.8 vs. 36.8 ± 11.2 mL·min−1·mmHg−1; p = 0.044; d = 0.341). A training camp at moderate altitude did not alter pulmonary diffusing capacity in elite swimmers, although a cycling session at a higher simulated altitude caused a certain degree of impairment of the alveolar-capillary gas exchange

Adaptation and validation of the portuguese version of the provider attitudes towards planned home birth (PAPHB) Scale

Maternity health care professionals' attitudes on the option of home birth can influence the choices and decisions women and their partners make about place of birth. Midwives are particularly influential in this space. The study outlined in this paper aimed to translate and validate the Provider Attitudes towards Planned Home Birth (PAPHB) scale questionnaire for use in the Portuguese maternity context. Methods: A total of 118 Portuguese midwives were selected through intentional sampling. The procedure was divided into two phases. In the first phase, a triple translation from the original language into Portuguese and a cross-cultural adaptation of the Provider Attitudes towards Planned Home Birth (PAPHB) scale were carried out, obtaining three versions of the same questionnaire. The second phase consisted of the validation of the questionnaire, for which the Provider Attitudes towards Planned Home Birth (PAPHB) scale was submitted to a panel of 20 experts and to a piloinfo:eu-repo/semantics/publishedVersio

Generation of a human iPSC line from a patient with Leigh syndrome

Human iPSC line LND554SV.3 was generated from heteroplasmic fibroblasts of a patient with Leigh syndrome carrying a mutation in the MT-ND5 gene (m.13513G. >. A; p.D393N). Reprogramming factors Oct3/4, Sox2, Klf4, and cMyc were delivered using a non-integrative methodology that involves the use of Sendai virus.This work was supported by grants from the “Centro de Investigación Biomédica en Red en Enfermedades Raras” (CIBERER) (grant 13-717/132.05 to RG), the “Instituto de Salud Carlos III” [Fondo de Investigación Sanitaria and Regional Development Fund (ERDF/FEDER) funds PI10/0703 and PI13/00556 to RG and PI15/00484 to MEG], “Comunidad Autónoma de Madrid” (grant number S2010/BMD-2402 to RG); TG receives grant support from the Universidad Autónoma de Madrid (FPI-UAM) and FZD from the Ministerio de Educación, Cultura y Deporte (FPU13/00544). MEG is a staff scientist at the “Centro de Investigación Biomédica en Red en Enfermedades Raras” (CIBERER) at the “Centro de Investigación Biomédica en Red en Enfermedades Raras” (CIBERER)

Generation of a human control iPSC line with a European mitochondrial haplogroup U background

Human iPSC line N44SV.5 was generated from primary normal human dermal fibroblasts belonging to the European mitochondrial haplogroup U. For this purpose, reprogramming factors Oct3/4, Sox2, Klf4, and cMyc were delivered using a non-integrative methodology that involves the use of Sendai virus.This work was supported by grants from the “Centro de Investigación Biomédica en Red en enfermedades raras” (CIBERER) (grant 13-717/132.05 to RG), the “Instituto de Salud Carlos III” [Fondo de Investigación Sanitaria and Regional Development Fund (ERDF/FEDER) funds PI10/0703 and PI13/00556 to RG and PI15/00484 to MEG], “Comunidad Autónoma de Madrid” (grant number S2010/BMD-2402 to R.G); T.G. receives grant support from the Universidad Autónoma de Madrid, FPI-UAM and F.Z.D. from the Ministerio de Educación, Cultura y Deporte, grant number FPU13/00544. M.E.G. is staff scientist at the “Centro de Investigación Biomédica en Red en Enfermedades Raras” (CIBERER

CONHECIMENTO DOS MOTIVOS QUE LEVARAM A MULHER DE VARGEM GRANDE PAULISTA A REALIZAR O PAPANICOLAU - PARTE I

In this first approach the authors discusse the state of the Program for Integral Assistence por Woman's Health in São Paulo and emprasize the deficit of information on social epidemiology of womens's behavirs related to health practices. .They focus on the preventive Pap smear and associate the motives that yeld women of Vargem Grande Paulista to have it mad. .They analyse this knowledge from criterian proposed by KULBOK5 for posteriory apply it in practice.Nesta primeira abordagem as autoras discutem a situação do Programa de Assistência Integral à Saúde da Mulher no Estado de São Paulo e enfatizam o déficit de informação acerca da epidemiología social dos comportamentos das mulheres em relação a práticas de saúde. Focalizam o exame preventivo de Papanicolau e relacionam os motivos que levaram as mulheres de Vargem Grande Paulista a fazê-lo. Analisam este conhecimento à luz dos critérios propostos por KULBOK5 para, posteriormente, aplicá-los na prática (Parte II)

Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene

Human iPSC line GFM1SV.25 was generated from fibroblasts of a child with a severe mitochondrial encephalopathy associated with mutations in the GFM1 gene, encoding the mitochondrial translation elongation factor G1. Reprogramming factors OCT3/4, SOX2, CMYC and KLF4 were delivered using a non integrative methodology that involves the use of Sendai virus.This work was supported by grants from the “Centro de Investigación Biomédica en Red en enfermedades raras” (CIBERER) (Grant 13-717/132.05 to RG), the “Instituto de Salud Carlos III” [Fondo de Investigación Sanitaria and Regional development fund (ERDF/FEDER) funds PI10/0703 and PI13/00556 to RG and PI15/00484 to MEG], “Comunidad Autónoma de Madrid” (Grant number S2010/BMD-2402 to RG); TG receives grant support from the Universidad Autónoma de Madrid (FPI-UAM) and FZD from the Ministerio de Educación, Cultura y Deporte (Grant FPU13/00544). MEG is staff scientist at the “Centro de Investigación Biomédica en Red en Enfermedades Raras” (CIBERER

Generation of a human iPSC line from a patient with a defect of intergenomic communication

Human iPSC line PG64SV.2 was generated from fibroblasts of a patient with a defect of intergenomic communication. This patient harbored a homozygous mutation (c.2243G>C; p.Trp748Ser) in the gene encoding the catalytic subunit of the mitochondrial DNA polymerase gamma gene (POLG). Reprogramming factors Oct3/4, Sox2, Klf4, and cMyc were delivered using a non integrative methodology that involves the use of Sendai virus.This work was supported by grants from the “Centro de Investigación Biomédica en Red en enfermedades raras” (CIBERER) (Grant 13-717/132.05 to RG), the “Instituto de Salud Carlos III” [Fondo de Investigación Sanitaria and Regional development fund (ERDF/FEDER) funds PI10/0703 and PI13/00556 to RG and PI15/00484 to MEG], “Comunidad Autónoma de Madrid” (Grant number S2010/BMD-2402 to RG); TG receives grant support from the Universidad Autónoma de Madrid (FPI-UAM) and FZD from the Ministerio de Educación, Cultura y Deporte (Grant FPU13/00544). MEG is staff scientist at the “Centro de Investigación Biomédica en Red en Enfermedades Raras” (CIBERER