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Emma Kristin Johansson, Anna Bergström, Inger Kull, Tomas Lind, Cilla Söderhäll, Erik Melén, Samina Asad, Maria Bradley, Agne Liedén, Natalia Ballardini, Carl-Fredrik Wahlgren
Information on factors of importance for remission of eczema is scarce. This study explored factors related to the remission and course of preschool eczema (PSE) (eczema at 1, 2 and/or 4 years of age) to 16 years of age (n = 889) in a Swedish cohort. Half of the children were in complete remission by school age (at age 8, 12, and 16 years). In multivariate prognostic models, persistent PSE (eczema at 1, 2 and 4 years of age) (odds ratio 0.27 (95% confidence interval 0.18-0.41)), PSE with sleep disturbance (due to itch at least once a week at 1, 2 and/or 4 years of age) (0...
March 2, 2018: Acta Dermato-venereologica
Ming-Ching Shen, Wan-Ju Wu, Po-Jen Cheng, Gwo-Chin Ma, Wen-Chu Li, Jui-Der Liou, Cheng-Shyong Chang, Wen-Hsiang Lin, Ming Chen
BACKGROUND: Heritable thrombophilias are assumed important etiologies for recurrent pregnancy loss. Unlike in the Caucasian populations, protein S and protein C deficiencies, instead of Factor V Lieden and Prothrombin mutations, are relatively common in the Han Chinese population. In this study we aimed to investigate the therapeutic effect of low molecular weight heparin upon women with recurrent pregnancy loss and documented protein S deficiency. METHODS: During 2011-2016, 68 women with recurrent pregnancy loss (RPL) and protein S deficiency (both the free antigen and function of protein S were reduced) were initially enrolled...
2016: Thrombosis Journal
Xavier Caubit, Paolo Gubellini, Joris Andrieux, Pierre L Roubertoux, Mehdi Metwaly, Bernard Jacq, Ahmed Fatmi, Laurence Had-Aissouni, Kenneth Y Kwan, Pascal Salin, Michèle Carlier, Agne Liedén, Eva Rudd, Marwan Shinawi, Catherine Vincent-Delorme, Jean-Marie Cuisset, Marie-Pierre Lemaitre, Fatimetou Abderrehamane, Bénédicte Duban, Jean-François Lemaitre, Adrian S Woolf, Detlef Bockenhauer, Dany Severac, Emeric Dubois, Ying Zhu, Nenad Sestan, Alistair N Garratt, Lydia Kerkerian-Le Goff, Laurent Fasano
TSHZ3, which encodes a zinc-finger transcription factor, was recently positioned as a hub gene in a module of the genes with the highest expression in the developing human neocortex, but its functions remained unknown. Here we identify TSHZ3 as the critical region for a syndrome associated with heterozygous deletions at 19q12-q13.11, which includes autism spectrum disorder (ASD). In Tshz3-null mice, differentially expressed genes include layer-specific markers of cerebral cortical projection neurons (CPNs), and the human orthologs of these genes are strongly associated with ASD...
November 2016: Nature Genetics
Marisa A P Baptista, Marton Keszei, Mariana Oliveira, Karen K S Sunahara, John Andersson, Carin I M Dahlberg, Austen J Worth, Agne Liedén, I-Chun Kuo, Robert P A Wallin, Scott B Snapper, Liv Eidsmo, Annika Scheynius, Mikael C I Karlsson, Gerben Bouma, Siobhan O Burns, Mattias N E Forsell, Adrian J Thrasher, Susanne Nylén, Lisa S Westerberg
Wiskott-Aldrich syndrome (WAS) is caused by loss-of-function mutations in the WASp gene. Decreased cellular responses in WASp-deficient cells have been interpreted to mean that WASp directly regulates these responses in WASp-sufficient cells. Here, we identify an exception to this concept and show that WASp-deficient dendritic cells have increased activation of Rac2 that support cross-presentation to CD8(+) T cells. Using two different skin pathology models, WASp-deficient mice show an accumulation of dendritic cells in the skin and increased expansion of IFNγ-producing CD8(+) T cells in the draining lymph node and spleen...
July 18, 2016: Nature Communications
T L Berents, K C Lødrup Carlsen, P Mowinckel, L Sandvik, H O Skjerven, L B Rolfsjord, B Kvenshagen, J O G Hunderi, M Bradley, A Lieden, K-H Carlsen, P M Thorsby, P Gjersvik
BACKGROUND: Epidemiological data and the effect of sun exposure on atopic eczema (AE) suggest that vitamin D (vitD) may be involved in the pathogenesis. OBJECTIVES: To investigate if vitD levels were associated with the presence or severity of AE in the first 2 years of life in children living in south-east Norway. METHODS: Infants, recruited to a clinical trial on acute bronchiolitis (n = 404) and from the general population (n = 240), were examined at 1-13 months (first visit) and at 2 years of age (second visit)...
July 2016: British Journal of Dermatology
Paul R Kasher, Katherine E Schertz, Megan Thomas, Adam Jackson, Silvia Annunziata, María J Ballesta-Martinez, Philippe M Campeau, Peter E Clayton, Jennifer L Eaton, Tiziana Granata, Encarna Guillén-Navarro, Cristina Hernando, Caroline E Laverriere, Agne Liedén, Olaya Villa-Marcos, Meriel McEntagart, Ann Nordgren, Chiara Pantaleoni, Céline Pebrel-Richard, Catherine Sarret, Francesca L Sciacca, Ronnie Wright, Bronwyn Kerr, Eric Glasgow, Siddharth Banka
Genetic studies of intellectual disability and identification of monogenic causes of obesity in humans have made immense contribution toward the understanding of the brain and control of body mass. The leptin > melanocortin > SIM1 pathway is dysregulated in multiple monogenic human obesity syndromes but its downstream targets are still unknown. In ten individuals from six families, with overlapping 6q16.1 deletions, we describe a disorder of variable developmental delay, intellectual disability, and susceptibility to obesity and hyperphagia...
February 4, 2016: American Journal of Human Genetics
Teresa Løvold Berents, Karin Cecilie Lødrup Carlsen, Petter Mowinckel, Håvard Ove Skjerven, Bente Kvenshagen, Leif Bjarte Rolfsjord, Maria Bradley, Agne Lieden, Kai-Håkon Carlsen, Peter Gaustad, Petter Gjersvik
Atopic eczema (AE) is associated with Staphylococcus aureus (S. aureus) colonization and skin barrier dysfunction, often measured by increased transepidermal water loss (TEWL). In the present study, the primary aim was to see whether S. aureus colonization in the vestibulum nasi and/or fauces was associated with increased TEWL in infants with healthy skin and infants with eczema. Secondarily, we aimed to investigate whether TEWL measurements on non-lesional skin on the lateral upper arm is equivalent to volar forearm in infants...
2015: PloS One
Fulya Taylan, Daniel Nilsson, Samina Asad, Agne Lieden, Carl-Fredrik Wahlgren, Mårten C G Winge, Kassahun Desalegn Bilcha, Magnus Nordenskjöld, Maria Bradley
No abstract text is available yet for this article.
August 2015: Journal of Allergy and Clinical Immunology
Mats Anders Eriksson, Agne Liedén, Joakim Westerlund, Anna Bremer, Josephine Wincent, Ellika Sahlin, Christopher Gillberg, Elisabeth Fernell, Britt-Marie Anderlid
AIM: Several studies have suggested that rare copy number variants (CNVs) are an important genetic contributor to autism spectrum disorders. The aims of the study were to use chromosomal microarray to investigate the presence of rare copy number variants in a population-based cohort of well-characterised young children with autism spectrum disorders and to relate the genetic results to neurodevelopmental profiles and medical conditions. METHODS: We performed chromosomal microarray on samples from 162 children who had been referred to the Stockholm Autism Centre for Young Children in Sweden after being diagnosed with autism spectrum disorder between 20 and 54 months of age...
June 2015: Acta Paediatrica
Johanna Winberg, Håkan Berggren, Torsten Malm, Sune Johansson, Jens Johansson Ramgren, Boris Nilsson, Agne Liedén, Agneta Nordenskjöld, Peter Gustavsson, Ann Nordgren
The aim of this study was to investigate if pathogenic copy number variations (CNVs) are present in mosaic form in patients with congenital heart malformations. We have collected cardiac tissue and blood samples from 23 patients with congenital heart malformations that underwent cardiac surgery and screened for mosaic gene dose alterations restricted to cardiac tissue using array comparative genomic hybridization (array CGH). We did not find evidence of CNVs in mosaic form after array CGH analysis. Pathogenic CNVs that were present in both cardiac tissue and blood were detected in 2/23 patients (9%), and in addition we found several constitutional CNVs of unclear clinical significance...
March 2015: European Journal of Medical Genetics
Agne Liedén, Malin Kvarnung, Daniel Nilssson, Ellika Sahlin, Elisabeth Syk Lundberg
Previous studies have shown that genetic aberrations involving the special AT-rich sequence-binding protein 2 (SATB2) gene result in a variable phenotype of syndromic intellectual disability. Although only a small number of patients have been described, there is already considerable variation in regard to the underlying molecular mechanism spanning from structural variation to point mutations. We here describe a male patient with intellectual disability, speech and language impairment, cleft palate, malformed teeth, and oligodontia...
December 2014: American Journal of Medical Genetics. Part A
Mei Ling Lim, Brandon Nick Sern Ooi, Philipp Jungebluth, Sebastian Sjöqvist, Isabell Hultman, Greg Lemon, Ylva Gustafsson, Jurate Asmundsson, Silvia Baiguera, Iyadh Douagi, Irina Gilevich, Alina Popova, Johannes Cornelius Haag, Antonio Beltrán Rodríguez, Jianri Lim, Agne Liedén, Magnus Nordenskjöld, Evren Alici, Duncan Baker, Christian Unger, Tom Luedde, Ivan Vassiliev, Jose Inzunza, Lars Ahrlund-Richter, Paolo Macchiarini
Stem cells contribute to regeneration of tissues and organs. Cells with stem cell-like properties have been identified in tumors from a variety of origins, but to our knowledge there are yet no reports on tumor-related stem cells in the human upper respiratory tract. In the present study, we show that a tracheal mucoepidermoid tumor biopsy obtained from a 6 year-old patient contained a subpopulation of cells with morphology, clonogenicity and surface markers that overlapped with bone marrow mesenchymal stromal cells (BM-MSCs)...
2014: PloS One
Ellika Sahlin, Peter Gustavsson, Agne Liedén, Nikos Papadogiannakis, Linus Bjäreborn, Karin Pettersson, Magnus Nordenskjöld, Erik Iwarsson
INTRODUCTION: The underlying causes of stillbirth are heterogeneous and in many cases unexplained. Our aim was to conclude clinical results from karyotype and quantitative fluorescence-polymerase chain reaction (QF-PCR) analysis of all stillbirths occurring in Stockholm County between 2008 and 2012. By screening a subset of cases, we aimed to study the possible benefits of chromosomal microarray (CMA) in the analysis of the etiology of stillbirth. METHODS: During 2008-2012, 481 stillbirths in Stockholm County were investigated according to a clinical protocol including karyotype or QF-PCR analysis...
2014: Fetal Diagnosis and Therapy
Stephan Weidinger, Saffron A G Willis-Owen, Yoichiro Kamatani, Hansjörg Baurecht, Nilesh Morar, Liming Liang, Pauline Edser, Teresa Street, Elke Rodriguez, Grainne M O'Regan, Paula Beattie, Regina Fölster-Holst, Andre Franke, Natalija Novak, Caoimhe M Fahy, Mårten C G Winge, Michael Kabesch, Thomas Illig, Simon Heath, Cilla Söderhäll, Erik Melén, Göran Pershagen, Juha Kere, Maria Bradley, Agne Lieden, Magnus Nordenskjold, John I Harper, W H Irwin McLean, Sara J Brown, William O C Cookson, G Mark Lathrop, Alan D Irvine, Miriam F Moffatt
Atopic dermatitis (AD) is the most common dermatological disease of childhood. Many children with AD have asthma and AD shares regions of genetic linkage with psoriasis, another chronic inflammatory skin disease. We present here a genome-wide association study (GWAS) of childhood-onset AD in 1563 European cases with known asthma status and 4054 European controls. Using Illumina genotyping followed by imputation, we generated 268 034 consensus genotypes and in excess of 2 million single nucleotide polymorphisms (SNPs) for analysis...
December 1, 2013: Human Molecular Genetics
Cecilia Bivik, Deepti Verma, Mårten C Winge, Agne Lieden, Maria Bradley, Inger Rosdahl, Peter Söderkvist
No abstract text is available yet for this article.
October 2013: Journal of Investigative Dermatology
Daniel Peters
No abstract text is available yet for this article.
August 2012: Journal of the Michigan Dental Association
Dora Lúcia Liedens Corrêa de Oliveira
The paper aimed at reflecting on the prevalence of self-care as a possible and desirable result of nursing education enterprises which focus on individual autonomy for one's own care. It can be argued that, in such a context, the teaching toward self-care has been directed according to technical orientations and biased definitions of "being healthy", of what it means to "be autonomous" and the meanings of "taking care of oneself". In this sense, taking into account the premises of health promotion, one questions the potential for self-care teaching to be liberating and to promote autonomy...
January 2011: Revista Brasileira de Enfermagem
Maria Kotka, Agne Lieden, Sven Pettersson, Vito Trinchieri, Alessandra Masci, Mauro D'Amato
Transporter proteins of the solute carriers (SLCs) family play a role in epithelial permeability and barrier function in the intestine, and polymorphisms in SLC genes are associated with inflammatory bowel disease. Many SLCs also mediate the bioavailability of pharmaceutical compounds, and the modulation of such transport systems to increase drug efficacy is, therefore, of great interest. We have undertaken a large-scale project to evaluate whether bacteria can modulate the expression of SLCs in the intestine...
September 2008: Journal of Clinical Gastroenterology
Duane F Bruley
Anti-coagulant proteins are essential to maintain blood hemostatis for the supply of oxygen and nutrients to tissue cells and for the removal of toxic by-products from metabolism. Hereditary or acquired deficiencies of Protein C, Protein S, or Antithrombin III can lead to disease states such as deep vein thrombosis (DVT) with the possibility of producing lung emboli. Phenomena named Factor V Lieden can produce a similar pathologic condition. Anti-coagulant deficiencies, including Factor V Lieden, are HIDDEN blood conditions that can allow blood clot development, especially with trauma to the tissue and circulatory system...
2007: Advances in Experimental Medicine and Biology
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