Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay

ConclusionGermline variants inPIK3CA are associated to a mild phenotype characterized by overgrowth, severe macrocephaly, mild intellectual disability, and few dysmorphic features. Investigations of PI3K/AKT/mTOR pathway should be performed in patients with severe macrocephaly and unspecific physical overgrowth. Longitudinal studies to assess prognosis and cancer predisposition are recommended.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research

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In this study, AT1-AAs were detected in the sera of patients with peripheral arterial disease (PAD) and the positive rate was 44.44% vs. 17.46% in non-PAD volunteers. In addition, analysis showed that AT1-AAs level was positively correlated with PAD. To reveal the causal relationship between AT1-AAs and vascular aging, an AT1-AAs-positive rat model was established by active immunization. The carotid pulse wave velocity was higher, and the aortic endothelium-dependent vasodilatation was attenuated significantly in the immunized rats. Morphological staining showed thickening of the aortic wall. Histological examination showe...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
This article evaluates access to the Papanicolaou test in the Family Health Strategy (FHS) in municipalities in a health region. Cervical cancer control depends on a well-organized Family Health Strategy, so assessment of access to the Papanicolaou test reflects the quality of care at this level. This is a qualitative study with data produced in 10 focus groups, totaling 70 participants in four municipalities. We analyzed the organizational, symbolic, and technical dimensions of access to the Pap test, with cervical cancer control as the marker. The results indicate that living in rural areas was a barrier to access to the...
Source: Cadernos de Saude Publica - Category: International Medicine & Public Health Authors: Tags: Cad Saude Publica Source Type: research
Nagore Elu1, Nerea Osinalde2, Javier Beaskoetxea1, Juanma Ramirez1, Benoit Lectez1, Kerman Aloria3, Jose Antonio Rodriguez4, Jesus M. Arizmendi1 and Ugo Mayor1,5* 1Department of Biochemistry and Molecular Biology, Faculty of Science and Technology, University of the Basque Country (UPV/EHU), Leioa, Spain 2Department of Biochemistry and Molecular Biology, Faculty of Pharmacy, University of the Basque Country (UPV/EHU), Vitoria-Gasteiz, Spain 3Proteomics Core Facility-SGIKER, University of the Basque Country (UPV/EHU), Leioa, Spain 4Department of Genetics, Physical Anthropology and Animal Physiology, University of ...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
Author Affiliations open 1Epidemiology Branch, National Institute of Environmental Health Sciences (NIEHS), National Institutes of Health (NIH), Department of Health and Human Services (DHHS), Research Triangle Park, North Carolina, USA 2Social &Scientific Systems, Inc., Durham, North Carolina, USA 3Westat, Durham, North Carolina, USA 4Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway 5Biostatistics and Computational Biology Branch, NIEHS, NIH, DHHS, Research Triangle Park, North Carolina, USA PDF Version (548 KB) Abstract About This Article Supplemental Material Bac...
Source: EHP Research - Category: Environmental Health Authors: Tags: Research Source Type: research
Ladies and Gentlemen, this is the moment you have all been waiting for – the day that the winners of the Medgadget Medical Sci-Fi Competition are announced and their fantastic stories are published! First, we would like to thank Eko Devices, th...
Source: Medgadget - Category: Medical Devices Authors: Tags: Exclusive Source Type: blogs
Conclusions: Residential proximity to road traffic volumes and traffic density were associated with increased all-cause mortality in patients undergoing treatment for active tuberculosis even after adjusting for multiple demographic, socioeconomic, and clinical factors, suggesting that TB patients are susceptible to the adverse health effects of traffic-related air pollution. https://doi.org/10.1289/EHP1699 Received: 31 January 2017 Revised: 18 August 2017 Accepted: 23 August 2017 Published: 29 September 2017 Address correspondence to R.J. Blount, Divisions of Pulmonary and Critical Care Medicine and Pediatric Pulmon...
Source: EHP Research - Category: Environmental Health Authors: Tags: Research Source Type: research
Conclusions: Peroral arsenic has little effect on local airway immune responses to bacteria but compromises respiratory epithelial barrier integrity, increasing systemic translocation of inhaled pathogens and small molecules. https://doi.org/10.1289/EHP1878 Received: 09 March 2017 Revised: 14 August 2017 Accepted: 16 August 2017 Published: 28 September 2017 Address correspondence to M.B. Fessler, National Institute of Environmental Health Sciences, 111 T.W. Alexander Dr., P.O. Box 12233, Maildrop D2-01, Research Triangle Park, NC 27709 USA. Telephone: (919) 541-3701. Email: fesslerm@niehs.nih.gov *Current address: UN...
Source: EHP Research - Category: Environmental Health Authors: Tags: Research Source Type: research
Abstract PROBLEM: Chronic diseases and conditions (e.g., heart diseases, stroke, arthritis, and diabetes) are the leading causes of morbidity and mortality in the United States. These conditions are costly to the U.S. economy, yet they are often preventable or controllable. Behavioral risk factors (e.g., excessive alcohol consumption, tobacco use, poor diet, frequent mental distress, and insufficient sleep) are linked to the leading causes of morbidity and mortality. Adopting positive health behaviors (e.g., staying physically active, quitting tobacco use, obtaining routine physical checkups, and checking blood pr...
Source: MMWR Surveill Summ - Category: Epidemiology Authors: Tags: MMWR Surveill Summ Source Type: research
Conclusions: These new resources offer substantial advances to classical toxicity testing paradigms by including genetically sensitive individuals that may inform toxicity risks for sensitive subpopulations. Both in vivo and complementary in vitro resources provide platforms with which to reduce uncertainty by providing population-level data around biological variability. https://doi.org/10.1289/EHP1274 Received: 25 October 2016 Revised: 19 April 2017 Accepted: 27 April 2017 Published: 15 August 2017 Address correspondence to K.A. McAllister, Program Administrator, Genes, Environment, and Health Branch, Division of E...
Source: EHP Research - Category: Environmental Health Authors: Tags: Review Source Type: research
By Susan Blumenthal, M.D. and Alexandrea Adams The recent commemoration of National Women’s Health Week provided an important time to mark the progress that has been made in advancing women’s health over the past two decades and to highlight what more needs to be done to achieve women’s health equity in America. Historically, women have experienced discrimination in health care despite making 80 percent of health care decisions for their families, using more medical services than men, and suffering greater disability from chronic disease. Before the mid 1990’s, women were often excluded as subjects ...
Source: Healthy Living - The Huffington Post - Category: Consumer Health News Source Type: news
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