Results 171 to 180 of about 42,467 (260)

Umbilical Cord Blood Transplantation in Lesch-Nyhan Syndrome: A Case Report and Literature Review. [PDF]

Cureus
Weng TF, Li JP, Tin CH, Wu KH.
europepmc   +1 more source

Marx's Concept of Life

European Journal of Philosophy, EarlyView.
Abstract This essay aims to reveal the conceptual unity of an ensemble of concepts of organic, animal, and anthropological life articulated by the young Karl Marx between 1842 and 1844. To lay the groundwork for my analysis, I begin with Marx's general account of “life as activity.” I argue that Marx articulates a hylomorphic theory of organic form in ...
Christopher Shambaugh
wiley   +1 more source

A Machine Learning Approach to Differentiate Congenital and Transient Neonatal Hyperammonemia: A 10-Year Case Series. [PDF]

Cureus
Frankevich N, Tokareva A, Makieva M, Mikhailova O, Akhapkina E, Frankevich V.   +5 more
europepmc   +1 more source

Genetic complexity in pediatric onset epilepsy‐movement disorder syndromes: Insights from a cohort of 97 subjects

Epilepsia, EarlyView.
Abstract Objective Conditions presenting with both epilepsy and movement disorders (EPIMDs) range from relatively benign cases to severe developmental encephalopathies. However, the full clinical and genetic spectrum still needs to be better defined.
Davide Caputo, Roberta Solazzi, Barbara Castellotti, Celeste Panteghini, Francesca Luisa Sciacca, Elisa Visani, Elena Freri, Francesca Ragona, Laura Canafoglia, Federica Zibordi, Giovanna Zorzi, Shari Gandelli, Cinzia Gellera, Silvana Franceschetti, Nardo Nardocci, Tiziana Granata   +15 more
wiley   +1 more source

Dietary Inflammatory Index and Nutritional Status in Children with Inborn Errors of Metabolism on Protein-Restricted Diets. [PDF]

Nutrients
Aktaş E, Çiçek B, Okur I, İnci A, Tümer L.   +4 more
europepmc   +1 more source

EEG functional connectivity as a marker of evolution from infantile epileptic spasms syndrome to Lennox–Gastaut syndrome

Epilepsia, EarlyView.
Abstract Objective Timely diagnosis and effective treatment of Lennox–Gastaut syndrome (LGS) improve prognosis and lower health care costs, but the transition from infantile epileptic spasms syndrome (IESS) to LGS is highly variable and insidious. Objective biomarkers are needed to monitor this progression and guide clinical decision‐making. Methods We
Blanca Romero Milà, Virginia B. Liu, Rachel J. Smith, Derek K. Hu, Natalie A. Benneian, Shaun A. Hussain, Maija Steenari, Donald Phillips, David Adams, Clare Skora, Beth A. Lopour, Daniel W. Shrey   +11 more
wiley   +1 more source

A Review of "My Life in Science: The Story of Biotinidase Deficiency" by Dr. Barry Wolf. [PDF]

Int J Neonatal Screen
Levy HL.
europepmc   +1 more source

High levels of serum cholesterol increase the risk of developing vessel co‐opting tumors in colorectal cancer liver metastases

The FEBS Journal, EarlyView.
High serum cholesterol is linked to colorectal cancer liver metastases (CRCLM) subtypes with poor survival (replacement pattern). Levels of cholesterol under 4 mmol·L−1 correlated with better survival and a desmoplastic pattern subtype. Furthermore, in vivo PCSK9 inhibitor evolocumab, which lowers cholesterol, reduced liver metastases.
Amatzia Gantz, Audrey Kapelanski‐Lamoureux, Miran Rada, Lucyna Krzywon, Migmar Tsamchoe, Anastasia Tsatoumas, Stephanie K. Petrillo, Nabil G. Seidah, Anthoula Lazaris, Peter Metrakos   +9 more
wiley   +1 more source

Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management. [PDF]

Orphanet J Rare Dis
Harings T, Bertsche T, Thiele AG, Kiess W, Bertsche A, Beblo S, Neininger MP.   +6 more
europepmc   +1 more source

Contrasting Approaches in the Implementation of GRADE Methodology in Guidelines for Haemophilia and Von Willebrand Disease

Haemophilia, EarlyView.
ABSTRACT Introduction The 2024 ISTH clinical practice guideline (CPG) for treatment of congenital haemophilia, the NBDF‐McMaster Guideline on Care Models for Haemophilia Management, and ASH ISTH NBDF WFH guidelines on the diagnosis and management of VWD all utilised GRADE methodology.
Mark W. Skinner, Manuela Albisetti, Jesús Ardila, Jan Astermark, Jan Blatny, Manuel Carcao, Pratima Chowdary, Nathan T. Connell, Miguel Crato, Yesim Dargaud, Roseline d'Oiron, Amy L. Dunn, Miguel A. Escobar, Carmen Escuriola‐Ettingshausen, Emna Gouider, Annie Harroche, Cedric Hermans, Victor Jimenez‐Yuste, Radoslaw Kaczmarek, Gili Kenet, Liane Khoo, Robert Klamroth, Florian Langer, David Lillicrap, Johnny Mahlangu, Christoph Male, Tadashi Matsushita, Sandrine Meunier, Wolfgang Miesbach, Beatrice Nolan, Johannes Oldenburg, Brian O'Mahony, Margareth Ozelo, Glenn F. Pierce, Gloria Ramos, Michael Recht, Olivia Romero‐Lux, Dawn Rotellini, Rita C. Santoro, Tammuella C. Singleton, Alok Srivastava, Sophie Susen, Kate Talks, Huyen Tran, Leonard A. Valentino, Jerzy Windyga, Renchi Yang, Maria Elisa Mancuso, also on behalf of AICE, AHAD‐AP, AHCDC, ATHN, CLAHT, EHC, French CRH & MHEMO, HTCCNC, NBDF, PEDNET, UKHCDO, WFH   +59 more
wiley   +1 more source