Results 161 to 170 of about 2,020,313 (253)

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

open access: yesAdvanced 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   +3 more
wiley   +1 more source

Promoting Healthy Living in South Dakota: South Dakota State University's High Obesity Program [PDF]

open access: yes
CDC\u2019s High Obesity Program (HOP) promotes healthy eating and active living in counties that have more than 40% prevalence of adult obesity. CDC provides funds to land grant universities that work with communities \u2014mostly in rural areas ...

core  

Navigating Asparaginase Treatment for Patients With Acute Lymphoblastic Leukemia: US Consensus Panel Recommendations on the Role of Multidisciplinary Care

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Asparaginase is a critical treatment component for patients with acute lymphoblastic leukemia/lymphoblastic lymphoma (ALL/LBL). However, the successful delivery of asparaginase‐based therapy remains challenging across care settings due to its complex administration, distinct toxicity profile, prolonged treatment duration, and the need for ...
Amir Ali   +8 more
wiley   +1 more source

Cerebral Small Vessel Disease in Immune‐Mediated Thrombotic Thrombocytopenic Purpura Patients During the Acute Phase and Disease Remission

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Immune‐mediated thrombotic thrombocytopenic purpura (iTTP) is a life‐threatening thrombotic microangiopathy characterized by acute neurological manifestations and long‐term sequelae related to microvascular brain injury. Cerebral small vessel disease (cSVD), detectable on MRI through lacunes, microbleeds, white matter hyperintensities, and ...
Addolorata Truma   +13 more
wiley   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun   +7 more
wiley   +1 more source

Severe obesity in youth

open access: yes
Childhood obesity is one of the most pressing health challenges. In recent years, the number of youth with obesity, especially those with severe obesity, is only increasing. This dissertation focused on youth with the most severe grade of obesity, as they suffer from tremendous physical and psychological consequences, and are often overlooked in ...
openaire   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman   +11 more
wiley   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa   +4 more
wiley   +1 more source

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri   +6 more
wiley   +1 more source

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud   +6 more
wiley   +1 more source

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