Results 51 to 60 of about 108,597 (268)

Engineering Human Donor Derived Germinal Center‐Like Organoids (GCLOs) for Studying Immune Response to Vaccination

open access: yesAdvanced Science, EarlyView.
We bioengineered a new approach methodology of generating Germinal Center Organoids that self‐organize from human blood‐derived immune cells. These immune organoids reproduce key features of humoral immunity, IgG production, and plasmablast emergence.
Bhumi Suthar   +4 more
wiley   +1 more source

Mapping Steroidogenic Perturbations Under Endocrine Disruptor Mixtures Across Demographic Subgroups: Structural and Metabolomic Insights

open access: yesAdvanced Science, EarlyView.
Population‐scale EDC–hormone association mapping among 4255 participants across demographic subgroups identifies phthalate metabolites as the most consistent signals associated with lower testosterone‐related markers in males. Integrative mechanistic validation prioritizes MCPP as a key phthalate metabolite linked to CYP17A1‐centered disruption of ...
Yanling Chen   +14 more
wiley   +1 more source

Retinal Vessel Segmentation: A Comprehensive Review From Classical Methods to Deep Learning Advances (1982–2025)

open access: yesAdvanced Intelligent Systems, EarlyView.
Four decades of retinal vessel segmentation research (1982–2025) are synthesized, spanning classical image processing, machine learning, and deep learning paradigms. A meta‐analysis of 428 studies establishes a unified taxonomy and highlights performance trends, generalization capabilities, and clinical relevance.
Avinash Bansal   +6 more
wiley   +1 more source

Progress in research on safety of vaccination in pregnancy: a review of the literature

open access: yesZhongguo gonggong weisheng
Pregnant women are a high-risk group for several infectious diseases. Vaccination is the most economical and effective way to prevent infectious diseases in the general population, but for pregnant women, vaccination can present both risks and benefits ...
Xinan NING   +3 more
doaj   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li   +25 more
wiley   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth   +7 more
wiley   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen   +5 more
wiley   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta   +9 more
wiley   +1 more source

The Study of Pulmonary Complication of Neonatal Mechanical Ventilation in NICU

open access: yesپزشکی بالینی ابن سینا, 2016
Introduction & Objective: The main indication of mechanical ventilation is in the treatment of neonates with respiratory failure. With the increased use of mechanical ventilation, its complications have increased too.
Mohammad Kazem Sabzeie   +4 more
doaj  

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta   +17 more
wiley   +1 more source

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