Results 171 to 180 of about 168,010 (302)

Pathways to the Quintuple Aim: The Role of Advanced Practice Clinicians in Valvular Heart Disease. [PDF]

JACC Adv
Cantey C, Dellise N, Beavers CJ, Brandwein R, Katinic J, Guibone KA, Wyman JF, Perpetua EM.   +7 more
europepmc   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

pyGeo: A geometry package for multidisciplinary design optimization

Journal of Open Source Software, 2023
Hannah M. Hajdik, Anil Yildirim, Neil Wu, Benjamin J. Brelje, Sabet Seraj, Marco Mangano, Joshua L. Anibal, Eirikur Jonsson, Eytan J. Adler, Charles A. Mader, Gaetan K. W. Kenway, Joaquim R. R. A. Martins   +11 more
openaire   +1 more source

A novel multi-thickness topology optimization method for balancing structural performance and manufacturability. [PDF]

Struct Multidiscipl Optim
Stankiewicz G, Dev C, Steinmann P.
europepmc   +1 more source

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source

Mitochondria‐Targeting Moieties Based on N‐Tethered Pyridinium Cations

Angewandte Chemie, EarlyView.
Pyridinium cations were benchmarked as mitochondria‐targeting moieties in a panel of N‐tethered fluorescent‐, bioactive‐, and inert‐cargo conjugates. 3,5‐Diphenylpyridinium (DPPy+) is a competent triphenylphosphonium (TPP+) surrogate, combining high mitochondria‐targeting efficiency with lower intrinsic effects on mitochondrial function.
Ivan Džajić, Natalija Trunkelj, Jernej Repas, Maša Kandušer, Lara Smrdel, Stane Pajk, Lovro Žiberna, Irena Mlinarič‐Raščan, Bostjan Markelc, Tim Bozic, Masa Omerzel, Tanja Jesenko, Maja Cemazar, Katja Kološa, Bojana Žegura, Miha Virant, Matic Lozinšek, Hai M. Nguyen, Joshua A. Nasburg, Heike Wulff, Maxime Gueguinou, Valerije Vrček, Veronica Carpanese, Ildiko Szabo, Luis A. Pardo, Tihomir Tomašič, Lucija Peterlin Mašič, Andrej Emanuel Cotman   +27 more
wiley   +2 more sources

Are We Missing the Obvious? Lessons From Aortic Root Thrombosis After LVAD Implantation. [PDF]

JACC Case Rep
Divya A, Dalal N.
europepmc   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Multidisciplinary Approach to Complex Lower Extremity Limb Salvage in Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome: A Case Report. [PDF]

Microsurgery
Talanker MM, Basta AV, Do T, Tung R, Allen A, Martin M, Ruygrok BL, Kellam PJ, Trost JG, Bhadkamkar MA.   +9 more
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source