Water exercises and quality of life during pregnancy

<p>Abstract</p> <p>Background</p> <p>In Brazil, concern with the quality of life of pregnant women is one of the points emphasized in the Program for the Humanization of Prenatal Care and Childbirth launched in 2000. However, there are few references in the literature on the role of either land or water-based physical exercise on women's quality of life during pregnancy. The purpose of this study was to evaluate the effects of a physical exercise program of water aerobics on the quality of life (QOL) of sedentary pregnant women.</p> <p>Methods</p> <p>A comparative observational study involving sedentary low-risk pregnant women bearing a single fetus with gestational age less than 20 weeks at the time of admission to the study, who were receiving antenatal care at a public health service. One group of 35 women was given routine antenatal care, while another group of 31 women, in addition to receiving the same routine care as the first group, also participated in three classes of water aerobics per week. QOL was evaluated by applying the WHOQOL-BREF questionnaire in both groups at the 20^th, 28^thand 36^thweeks of pregnancy. In the same occasions, women also answered another questionnaire about their experience with pregnancy and antenatal care.</p> <p>Results</p> <p>The great majority of the participants considered that the practice of water aerobics had benefitted them in some way. QOL scores were found to be high in both groups during follow-up. There was no association between the practice of water aerobics and QOL.</p> <p>Conclusions</p> <p>Further studies involving larger sample sizes should be conducted in different sociocultural contexts and/or using other instruments to adequately evaluate the QOL of women during pregnancy.</p

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Purpose: Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the genomic and transcriptomic variation in 1054 unsolved STGD and STGD-like probands. Methods: Sequencing of the complete 128-kb ABCA4 gene was performed using single-molecule molecular inversion probes (smMIPs), based on a semiautomated and cost-effective method. Structural variants (SVs) were identified using relative read coverage analyses and putative splice defects were studied using in vitro assays. Results: In 448 biallelic probands 14 known and 13 novel deep-intronic variants were found, resulting in pseudoexon (PE) insertions or exon elongations in 105 alleles. Intriguingly, intron 13 variants c.1938-621G>A and c.1938-514G>A resulted in dual PE insertions consisting of the same upstream, but different downstream PEs. The intron 44 variant c.6148-84A>T resulted in two PE insertions and flanking exon deletions. Eleven distinct large deletions were found, two of which contained small inverted segments. Uniparental isodisomy of chromosome 1 was identified in one proband. Conclusion: Deep sequencing of ABCA4 and midigene-based splice assays allowed the identification of SVs and causal deep-intronic variants in 25% of biallelic STGD1 cases, which represents a model study that can be applied to other inherited diseases.Fil: Khan, Mubeen. Radboud University Nijmegen Medical Centre; Países BajosFil: Cornelis, Stéphanie S.. Radboud University Nijmegen Medical Centre; Países BajosFil: Del Pozo Valero, Marta. Hospital Universitario Fundación Jiménez Díaz; España. Radboud University Nijmegen Medical Centre; Países BajosFil: Whelan, Laura. Trinity College; Estados UnidosFil: Runhart, Esmee H.. Radboud University Nijmegen Medical Centre; Países BajosFil: Mishra, Ketan. Radboud University Nijmegen Medical Centre; Países BajosFil: Bults, Femke. Radboud University Nijmegen Medical Centre; Países BajosFil: AlSwaiti, Yahya. St John of Jerusalem Eye Hospital Group; Palestina (ANP)Fil: AlTalbishi, Alaa. St John of Jerusalem Eye Hospital Group; Palestina (ANP)Fil: De Baere, Elfride. University of Ghent; BélgicaFil: Banfi, Sandro. Seconda Universita Degli Studi Di Napoli; ItaliaFil: Banin, Eyal. The Hebrew University of Jerusalem; IsraelFil: Bauwens, Miriam. University of Ghent; BélgicaFil: Ben Yosef, Tamar. The Ruth And Bruce Rappaport Faculty Of Medicine; IsraelFil: Boon, Camiel J. F.. Leiden University. Leiden University Medical Center; Países BajosFil: van den Born, L. Ingeborgh. Rotterdam Ophthalmic Institute; Países BajosFil: Defoort, Sabine. Universite Lille; FranciaFil: Devos, Aurore. Universite Lille; FranciaFil: Dockery, Adrian. Trinity College; Estados UnidosFil: Dudakova, Lubica. Charles University and General University Hospital; República ChecaFil: Fakin, Ana. Charles University and General University Hospital; República ChecaFil: Farrar, G. Jane. Trinity College; Estados UnidosFil: Ferraz Sallum, Juliana Maria. Universidade Federal de Sao Paulo; BrasilFil: Fujinami, Kaoru. UCL Institute of Ophthalmology; Reino UnidoFil: Gilissen, Christian. Radboud University Nijmegen Medical Centre; Países BajosFil: Glavac, Damjan. University of Ljubljana; EsloveniaFil: Gorin, Michael B.. University of California at Los Angeles. School of Medicine; Estados UnidosFil: Greenberg, Jacquie. University of Cape Town; SudáfricaFil: Hayashi, Takaaki. The Jikei University School of Medicine; JapónFil: Hettinga, Ymkje M.. Bartiméus Diagnostic Center for Complex Visual Disorders; Países BajosFil: Hoischen, Alexander. Radboud University Nijmegen Medical Centre; Países BajosFil: Hoyng, Carel B.. Radboud University Nijmegen Medical Centre; Países BajosFil: Hufendiek, Karsten. University Eye Hospital Hannover Medical School; AlemaniaFil: Jägle, Herbert. University Regensburg; AlemaniaFil: Kamakari, Smaragda. OMMA Ophthalmological Institute of Athens; GreciaFil: Karali, Marianthi. Seconda Universita Degli Studi Di Napoli; ItaliaFil: Kellner, Ulrich. No especifíca;Fil: Klaver, Caroline C. W.. Radboud University Nijmegen Medical Centre; Países BajosFil: Kousal, Bohdan. Charles University and General University Hospital; República ChecaFil: Lamey, Tina M.. University of Western Australia; AustraliaFil: MacDonald, Ian M.. University of Alberta; CanadáFil: Matynia, Anna. University of California at Los Angeles. School of Medicine; Estados UnidosFil: McLaren, Terri L.. University of Western Australia; AustraliaFil: Mena, Marcela D.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; ArgentinaFil: Meunier, Isabelle. Université Montpellier II; FranciaFil: Miller, Rianne. Radboud University Nijmegen Medical Centre; Países BajosFil: Newman, Hadas. Universitat Tel Aviv; IsraelFil: Ntozini, Buhle. University of Cape Town; SudáfricaFil: Oldak, Monika. No especifíca;Fil: Pieterse, Marc. Radboud University Nijmegen Medical Centre; Países BajosFil: Podhajcer, Osvaldo Luis. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; ArgentinaFil: Puech, Bernard. Universite Lille; FranciaFil: Ramesar, Raj. University of Cape Town; SudáfricaFil: Rüther, Klaus. No especifíca;Fil: Salameh, Manar. No especifíca;Fil: Salles, Mariana Vallim. Universidade de Sao Paulo; BrasilFil: Sharon, Dror. The Hebrew University of Jerusalem; IsraelFil: Simonelli, Francesca. Seconda Universita Degli Studi Di Napoli; ItaliaFil: Spital, Georg. No especifíca;Fil: Steehouwer, Marloes. Radboud University Nijmegen Medical Centre; Países BajosFil: Szaflik, Jacek P.. No especifíca;Fil: Thompson, Jennifer A.. No especifíca;Fil: Thuillier, Caroline. Universite Lille; FranciaFil: Tracewska, Anna M.. No especifíca;Fil: van Zweeden, Martine. Radboud University Nijmegen Medical Centre; Países BajosFil: Vincent, Andrea L.. University of Auckland; Nueva ZelandaFil: Zanlonghi, Xavier. No especifíca;Fil: Liskova, Petra. Charles University and General University Hospital; República ChecaFil: Stöhr, Heidi. Universitat Regensburg; AlemaniaFil: De Roach, John N.. University of Western Australia; AustraliaFil: Ayuso, Carmen. Hospital Universitario Fundación Jiménez Díaz; EspañaFil: Roberts, Lisa. University of Cape Town; SudáfricaFil: Weber, Bernhard H. F.. Universitat Regensburg; AlemaniaFil: Dhaenens, Claire Marie. Universite Lille; FranciaFil: Cremers, Frans P. M.. Radboud University Nijmegen Medical Centre; Países Bajo