Results 151 to 160 of about 507,240 (308)

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

Hepatology, EarlyView., 2022
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Abstract Background and Aims Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real‐world data are lacking.
Shannon M. Vandriel, Li‐Ting Li, Huiyu She, Jian‐She Wang, Melissa A. Gilbert, Irena Jankowska, Piotr Czubkowski, Dorota Gliwicz‐Miedzińska, Emmanuel M. Gonzales, Emmanuel Jacquemin, Jérôme Bouligand, Nancy B. Spinner, Kathleen M. Loomes, David A. Piccoli, Lorenzo D'Antiga, Emanuele Nicastro, Étienne Sokal, Tanguy Demaret, Noelle H. Ebel, Jeffrey A. Feinstein, Rima Fawaz, Silvia Nastasio, Florence Lacaille, Dominique Debray, Henrik Arnell, Björn Fischler, Susan Siew, Michael Stormon, Saul J. Karpen, Rene Romero, Kyung Mo Kim, Woo Yim Baek, Winita Hardikar, Sahana Shankar, Amin J. Roberts, Helen M. Evans, M. Kyle Jensen, Marianne Kavan, Shikha S. Sundaram, Alexander Chaidez, Palaniswamy Karthikeyan, Maria Camila Sanchez, Maria Lorena Cavalieri, Henkjan J. Verkade, Way Seah Lee, James E. Squires, Christina Hajinicolaou, Chatmanee Lertudomphonwanit, Ryan T. Fischer, Catherine Larson‐Nath, Yael Mozer‐Glassberg, Cigdem Arikan, Henry C. Lin, Jesus Quintero Bernabeu, Seema Alam, Deirdre A. Kelly, Elisa Carvalho, Cristina Targa Ferreira, Giuseppe Indolfi, Ruben E. Quiros‐Tejeira, Pinar Bulut, Pier Luigi Calvo, Zerrin Önal, Pamela L. Valentino, Dev M. Desai, John Eshun, Maria Rogalidou, Antal Dezsőfi, Sabina Wiecek, Gabriella Nebbia, Raquel Borges Pinto, Victorien M. Wolters, María Legarda Tamara, Andréanne N. Zizzo, Jennifer Garcia, Kathleen Schwarz, Marisa Beretta, Thomas Damgaard Sandahl, Carolina Jimenez‐Rivera, Nanda Kerkar, Jernej Brecelj, Quais Mujawar, Nathalie Rock, Cristina Molera Busoms, Wikrom Karnsakul, Eberhard Lurz, Ermelinda Santos‐Silva, Niviann Blondet, Luis Bujanda, Uzma Shah, Richard J. Thompson, Bettina E. Hansen, Binita M. Kamath, The Global ALagille Alliance (GALA) Study Group   +93 more
wiley   +1 more source

Research progress on intervention on shoulder pain in patients after gynecological laparoscopic surgery

Huli yanjiu, 2016
It introduced the causes of shoulder pain in patients after gynecological laparoscopic surgery and summed up preoperative,intraoperative and postoperative intervention methods to reduce the postoperative shoulder pain.It put forward that the simple and ...
Fan Cuiping, ZHU Yu
doaj  

Refining OVCAR‐3 xenograft models of peritoneal carcinomatosis in nu/nu mice: Comparative intraperitoneal implantation strategies and the role of basement membrane matrix

Animal Models and Experimental Medicine, EarlyView.
A refined murine model of advanced ovarian cancer was established by comparing localized preperitoneal implantation and intraperitoneal injection of OVCAR‐3Luc cells. While localized implantation showed limited tumor persistence, intraperitoneal delivery with BME produced sustained diffuse dissemination confirmed by BLI and histology, providing a ...
M. Teresa Perelló‐Trias, Antonio Jose Serrano‐Muñoz, Juan J. Segura‐Sampedro, Adriana M. Quintero‐Duarte, Joana M. Ramis, Marta Monjo   +5 more
wiley   +1 more source

Biomimetic Nanofiber Scaffold Coated With Acellular Matrices for Uterine Myometrial Tissue Engineering

Advanced NanoBiomed Research, EarlyView.
Schematic representation of acellular matrix generation from human uterine fibroblast cells, coating on polycaprolactone electrospun nanofibers, and subsequent in vitro and in vivo characterization. A tissue‐engineered scaffold tailored for uterine myometrium‐specific regeneration is designed. The electrospinning technique was used to fabricate aligned
Srividya Hanuman, Shripad S. Hebbar, Rishikesh Balvalli, Manasa Nune   +3 more
wiley   +1 more source

Use of Clotrimazole in Finfish Aquaculture: Mechanistic Insights, Limitations, and Future Directions for Antifungal Therapy

Animal Research and One Health, EarlyView.
This review critically evaluates clotrimazole as a potential antifungal for finfish aquaculture, highlighting strong mechanistic and in vitro efficacy against aquatic mycoses alongside major gaps in in vivo evidence, toxicokinetics, residue safety, and environmental risk, outlining priorities for responsible therapeutic development and regulatory ...
Arya Sen, Debashri Mondal, Thangapalam Jawahar Abraham   +2 more
wiley   +1 more source

Efficacy and Safety of Benmelstobart Plus Anlotinib in Advanced Endometrial Cancer: Results of a Multi-Cohort, Phase II Study (ETER200). [PDF]

MedComm (2020)
Liang S, Chen X, Wang K, Wang D, An R, Hou J, Yang Y, Wang D, Qu P, Zhang B, Duan W, Li X, Zang A, Yu G, Lou H, Yao D, Wang S, Yan D, Li L, Liu X, Zhao W, Chen Z, Fei J, Li J, Wang J, Wang Z, Yao S, Ning F, Zhou H, Sun L, Pan L, Liu Q, Yang H, Wang L, Zhang M, Chen X, Yuan J, Zhang X, Zhang Y, Liao Q, Wu X.   +40 more
europepmc   +1 more source

Segregation by Payer in Obstetrics and Gynecology Residency Ambulatory Care Sites

Importance: Many teaching hospitals in the US segregate patients by insurance status, with resident clinics primarily composed of publicly insured or uninsured patients and faculty practices seeing privately insured patients. The prevalence of this model
Tucker Edmonds, Brownsyne, Reiser, Hannah, Banks, Erika, George, Karen, Vinekar, Kavita, Qasba, Neena, Arora, Kavita S.   +6 more
core   +1 more source

Noninvasive Diagnosis of Splenosis Using Tc‐99m Heat‐Denatured Red Blood Cell Scintigraphy

American Journal of Hematology, EarlyView.
Natacha Dewarrat, Katharina Auf der Springe, Francesco Grandoni, Rami Hajri, Mathilde Gavillet   +4 more
wiley   +1 more source