Results 41 to 50 of about 160,640 (261)

Measuring economic burden in families of individuals with Angelman Syndrome in Poland: a caregivers’ survey

Orphanet Journal of Rare Diseases
Background Angelman Syndrome (AS) is a rare neurogenetic disorder characterized by severe intellectual disability, seizures, and motor and speech impairments, requiring lifelong, intensive care.
Dariusz Walkowiak, Karolina Pospieszyńska-Martysiuk, Hanna Dianow, Joanna Węgrzyn, Jan Domaradzki   +4 more
doaj   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Creating the Poor Law Legacy: Institutional Care for Older People Before the Welfare State

, 2012
Why, despite the universalist aspiration of the British welfare state, was institutional care for poor older people so frequently condemned as inferior?
Gorsky, Martin
core   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Multiple cavernous malformations presenting in a patient with Poland syndrome: A case report

Journal of Medical Case Reports, 2011
Introduction Poland syndrome is a congenital disorder related to chest and hand anomalies on one side of the body. Its etiology remains unclear, with an ipsilateral vascular alteration (of unknown origin) to the subclavian artery in early embryogenesis ...
De Salles Antonio AF, Lizarraga Karlo J
doaj   +1 more source

Case report : Williams-Campbell syndrome [PDF]

, 2009
Background: Williams-Campbell syndrome is a rare type of bronchiectasis that is due to deficiency or absence of cartilage in the fourth- to sixth-order bronchi.
Bestry, Iwona, Błasińska-Przerwa, Katarzyna, Gawryluk, Dariusz, Wiatr, Elżbieta   +3 more
core  

Antoni Kępiński’s Philosophy of Medicine – an alternative reading [PDF]

, 2016
Antoni Kępiński remains an often read and quoted author even 40 years after his premature death. Usually he is read in the context of his times and his connections with contemporary philosophy.
Zawiła-Niedźwiecki, Jakub
core   +2 more sources

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel

Arthritis &Rheumatology, EarlyView.
Objective Vacuoles E1 enzyme X‐linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality.
Arsene Mekinian, Sophie Georgin‐Lavialle, Marcela A. Ferrada, Sinisa Savic, Matthew J. Koster, Olivier Kosmider, Thibault Comont, Mael Heilblig, Juan I. Arostegui, Annmarie Bosco, Rim Bourguiba, Katherine R. Calvo, Catherine Cargo, Chiara Cattaneo, François Chasset, Henrique Coelho, Corrado Campochiaro, Francesca Crisafulli, Stephanie Ducharme‐Benard, Raquel Faria, Franco Franceschini, Micol Frassi, Emma M. Groarke, Carmelo Gurnari, Yervand Hakobyan, Yvan Jamilloux, Ciprian Jurcut, Yohei Kirino, Austin Kulasekararaj, Hiroyoshi Kunimoto, Lauren M. Madigan, Heřman F. Mann, Chiara Marvisi, Marcin Milchert, Sara Morais, Katja Sockel, Francesco Muratore, Hideaki Nakajima, Mrinal M. Patnaik, Luísa Regadas, Marie Robin, Abraham Rutgers, Carlo Salvarani, Anthony M. Sammel, Joerg Seebach, Pierre Sujobert, Alessandro Tomelleri, Geoffrey Urbanski, Frédéric Vandergheynst, Romana Vieira, David S. Viswanatha, Ewa Więsik‐Szewczyk, Elisa Diral, Benjamin Terrier, Bhavisha A. Patel, Pierre Fenaux, Peter C. Grayson, David B. Beck, on behalf of the International VEXAS working group, and with endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases, Heřman Mann, Benjamin Terrier, François Chasset, Sophie Georgin Lavialle, Alessandro Tomelleri, Campochiaro Corrado, Carlo Salvarani, Francesca Crisafulli, Franco Franceschini, Micol Frassi, Yohei Kirino, Ewa Więsik‐Szewczyk, Marcin Milchert, Raquel Faria, Ciprian Jurcut, Joerg Seebach, Sinisa Savic, David Beck, Lauren Madigan, Matthew Koster, Patnaik Mrinal, Olivier Kosmider, Pierre Sujobert, Juan I. Arostegui, Catherine Cargo, David Viswanatha, Yervand Hagopian, Mael Heilblig, Pierre Fenaux, Thibault Comont, Bruno Alessandro, Chiara Cattaneo, Elisa Diral, Sara Morais, Austin Kulasekarara, Emma Groarke, Katherine Calvo, Patel Bhavisha, Anthony Sammel, Arsene Mekinian, Benjamin Terrier, Marie Robin, Sophie Georgin Lavialle, Katja Sockel, Yvan Jamilloux, Carmelo Gurnari, Henrique Coelho, Romana Vieira, Rim Bourguiba, Marcela Ferrada, Peter Grayson   +111 more
wiley   +1 more source

Estimation of the prevalence of respiratory diseases in pigs in north-eastern Poland: Survey of pulmonary lesions in pigs at a slaughterhouse

Veterinární Medicína, 2021
A total of 29 520 animals, from 164 batches of pigs belonging to an identical number of herds, were involved in the study. The considered population of pigs were limited to the region of north-eastern Poland involving six voivodeships.
P Przyborowska-Zhalniarovich, Y Zhalniarovich, K Wasowicz   +2 more
doaj   +1 more source

Efficacy and Safety of Subcutaneous Anifrolumab in Systemic Lupus Erythematosus: the Randomized, Phase 3, TULIP‐SC Study

Arthritis &Rheumatology, Accepted Article.
Objective The multinational, phase 3, double‐blind, placebo‐controlled TULIP‐SC trial evaluated the efficacy and safety of subcutaneous anifrolumab in adults who have moderate‐to‐severe SLE activity, despite receiving standard therapy. Methods Adults with SLE received subcutaneous anifrolumab 120 mg or placebo once weekly for 52 weeks (1:1 ...
Susan Manzi, Ian N. Bruce, Eric F. Morand, Richard Furie, Yoshiya Tanaka, Kenneth C. Kalunian, Anca Askanase, Patricia Puzio, Emon Khan, Jenny Wissmar, Michael Song, Catharina Lindholm, The TULIP‐SC investigators   +12 more
wiley   +1 more source