Results 21 to 30 of about 9,112 (266)

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

OS BENS DO EXTINTO CONVENTO DE S. JOÃO DE DEUS EM LISBOA

Art is on, 2016
O Convento de S. João de Deus, em Lisboa, foi fundado, em 1629, pela Ordem Hospitaleira de S. João de Deus; ao longo de 200 anos, garantiu a assistência na saúde a religiosos, militares e civis.
Carmina Montezuma de Carvalho, Estela Rodrigues   +1 more
doaj   +3 more sources

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome

Annals of Neurology, EarlyView.
Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca, Adrià Vilaseca‐Capel, Judith Cantó‐Santos, Ester Tobías, Félix Andújar‐Sánchez, Laia Farré‐Tarrats, Frederic Tort, Carles Rentero, Carlos Enrich, Virginia López, Juan R. Tejedor, Anna Esteve‐Codina, Cristina Núñez de Arenas, Pedro J. Moreno‐Lozano, José C. Milisenda, Mar O'Callaghan, Teresa García‐Silva, Montserrat Morales‐Conejo, Mario F. Fraga, Rafael Artuch, Miguel Á. Martín, José M. Cuezva, Ana Matas, Glòria Garrabou, Mariona Guitart‐Mampel   +24 more
wiley   +1 more source

First Record of Tasmanian Devils in the Pilbara: Late Quaternary Subfossils From Juukan Gorge, Puutu Kunti Kurrama Country, and Insights Into Human—Faunal Relationships and Extinction

Archaeology in Oceania, EarlyView.
ABSTRACT This study presents the first unequivocal evidence for the presence of Tasmanian devils (Sarcophilus harrisii) in the Pilbara region of northwestern Australia, based on material recovered from archaeological excavations at Juukan Gorge on Puutu Kunti Kurrama and Pinikura country.
Timothy J. Churchill, Michael Slack, Elise Matheson, Liam Neill, Wanchese M. Saktura, Gavin Ashburton   +5 more
wiley   +1 more source

Late Holocene Occupation and Resource Use in the Sub‐Coastal Moreton Region: The Open‐Air Howard Creek Site, Southeast Queensland

Archaeology in Oceania, EarlyView.
ABSTRACT This paper reports archaeological investigations at the Howard Creek site, a Late Holocene open‐air site in the sub‐coastal Moreton region of southeast Queensland. The site adds to a regional record based largely on rockshelter excavations. Development‐led salvage investigations included excavation, radiocarbon dating, lithic analysis, and use‐
Irina A. Ponomareva, Cate Cunningham, Birgitta Stephenson   +2 more
wiley   +1 more source

Endovascular recanalization of occluded superior mesenteric artery using retrograde access through the inferior mesenteric artery

Journal of Vascular Surgery Cases and Innovative Techniques, 2017
Symptomatic occlusion of the superior mesenteric artery can be treated by open repair, hybrid procedure, or endovascular revascularization. In most cases, endovascular procedures are done by the antegrade approach. We report a case of a 67-year-old woman
Eduardo Keller Saadi, MD, Gustavo Oderich, MD, Eduardo Medronha, MD, Rodrigo Petersen Saadi, Marina Petersen Saadi, Cristiano Jaegger, MD   +5 more
doaj   +1 more source

AMETHYST: A Retrospective Cohort Study of Treatment Patterns and Outcomes in Patients With Glucocorticoid‐Refractory Macrophage Activation Syndrome Complicating Still's Disease

Arthritis &Rheumatology, EarlyView.
Objective Information is limited on the natural history and current treatment patterns in macrophage activation syndrome (MAS), a life‐threatening hyperinflammatory syndrome complicating Still's disease (systemic juvenile idiopathic arthritis [sJIA] and adult‐onset Still's disease [AOSD]).
Alexei Grom, Jordi Antón, Edward M. Behrens, Corey Best, Norbert Blank, Josefin Blomkvist, Scott W. Canna, Sonia Carriquí, Shanmuganathan Chandrakasan, Andrew Danquah, Ngoc‐Bao Duong, Brian D. Jamieson, Paivi Miettunen, Abiola Oladapo, Sampath Prahalad, Pierre Quartier, Grant Schulert, Anna Stoltenberg, Uwe Ullmann, Erika Van Nieuwenhove, Sebastiaan J. Vastert, Fabrizio De Benedetti   +21 more
wiley   +1 more source

Esophageal ulcers caused by reactivation of ganglionary tuberculosis: a case report

Brazilian Journal of Infectious Diseases
The involvement of the esophagus in tuberculosis (TB) is extremely rare. This is a case report of an immunocompetent male patient, who presented ganglionary TB reactivation, with the development of extensive esophageal ulcers.
Everton Hadlich, Bruno Galperim, Carlos Fernando Rizzon   +2 more
doaj   +1 more source

The development and validation of a new diagnostic sonographic enthesitis score for psoriatic arthritis: Diagnostic Ultrasound Enthesitis Tool (DUET)

Arthritis &Rheumatology, Accepted Article.
Objective The Diagnostic Ultrasound Enthesitis Tool (DUET) study aimed to develop and validate a new sonographic scoring system for enthesitis to aid PsA diagnosis. Methods We prospectively enrolled patients with early PsA, psoriasis without arthritis (PsO), and non‐inflammatory musculoskeletal symptoms as controls (CTL) from 17 centers. A standardized
Lihi Eder, Andre L. Ribeiro, Ricardo Acayaba de Toledo, Catherine Bakewell, Philippe Carron, Basant Elnady, Amir Haddad, Arthur Kavanaugh, Arnon Katz, Minna J. Kohler, Josefina Marin, Fahmeen Afgani, Nikolas Malliotis, Nam Nguyen, Adrien Nzeusseu, Ari Polachek, Ernesto Rodriguez, Marcos Rosemffet, Abha Singh, Maria S. Stoenoiu, Agnes Szentpetery, Ilaria Tinazzi, Janeth Yinh, Mu Yang, Dennis McGonagle, Richard Cook, Gurjit S. Kaeley, Sibel Z. Aydin   +27 more
wiley   +1 more source