Results 191 to 200 of about 336,544 (303)

Automating AI Discovery for Biomedicine Through Knowledge Graphs and Large Language Models Agents

Advanced Intelligent Discovery, EarlyView.
This work proposes a novel framework that automates biomedical discovery by integrating knowledge graphs with multiagent large language models. A biologically aligned graph exploration strategy identifies hidden pathways between biomedical entities, and specialized agents use this pathway to iteratively design AI predictors and wet‐lab validation ...
Naafey Aamer, Muhammad Nabeel Asim, Shan Munir, Andreas Dengel   +3 more
wiley   +1 more source

Vitamin C Deficiency in an Adolescent With Severe Anorexia Nervosa. [PDF]

Cureus
Cram B, Pohoreski K, Novak C, Vyver E.
europepmc   +1 more source

Clinical, Genetic, and Pathologic Variability in Myelodysplastic Syndromes and Precursor Conditions Across Race, Ethnicity, and Sex

American Journal of Hematology, EarlyView.
ABSTRACT The epidemiology of myelodysplastic syndromes/neoplasms (MDS) is challenging to define due to inconsistent reporting, complex diagnostic procedures, and evolving diagnostic criteria. Using the National MDS Natural History Study—a prospective cohort with centrally adjudicated histopathology and genetic variant review—we characterized the ...
Nancy Gillis, Christelle Colin‐Leitzinger, Yi‐Han Tang, Michael Otterstatter, Seth Sherman, Ling Zhang, Lynn C. Moscinski, Mary Ellen Walker, Jeffrey S. Painter, Gregory A. Abel, Tareq Al Baghdadi, H. Joachim Deeg, James M. Foran, Steven D. Gore, Alexandra M. Harrington, Steven H. Kroft, Jane Jijun Liu, Wael Saber, Shamsuddin Virani, Rafael Bejar, R. Coleman Lindsley, Eric Padron, Matthew J. Walter, Rami Komrokji, Amy E. DeZern, Mikkael A. Sekeres   +25 more
wiley   +1 more source

Vitamin C Deficiency in the Young Brain-Findings from Experimental Animal Models. [PDF]

Nutrients, 2021
Tveden-Nyborg P.
europepmc   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

Vitamin C Deficiency in a 24-Year-Old Male Resulting in Anemia From Hematuria and Impaired Erythropoiesis Requiring Multiple Transfusions. [PDF]

Cureus
Dao V, Kessler K, Abou-Elmagd T, Subedi A, Nazir T.   +4 more
europepmc   +1 more source

Vitamin C Deficiency May Delay Diet-Induced NASH Regression in the Guinea Pig. [PDF]

Antioxidants (Basel), 2021
Skat-Rørdam J, Pedersen K, Skovsted GF, Gregersen I, Vangsgaard S, Ipsen DH, Latta M, Lykkesfeldt J, Tveden-Nyborg P.   +8 more
europepmc   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira   +11 more
wiley   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source