Results 131 to 140 of about 673,439 (269)

Sensitivity of Administrative Coding for Heart Disease in Pregnancy. [PDF]

open access: yesClin Epidemiol
Amarasinghe GS   +6 more
europepmc   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir   +6 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Lumbo-Costovertebral Syndrome with Congenital Inferior Lumbar Hernia in a Female Infant. [PDF]

open access: yesInt Med Case Rep J
Barakat A   +5 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

IRF‐1 modulates hepatic ferroptosis and aggravates liver ischemia/reperfusion injury via DYRK1α

open access: yesAnimal Models and Experimental Medicine, EarlyView.
IRF‐1 modulates hepatic ferroptosis and aggravates liver ischemia/reperfusion injury via DYRK1α. Abstract Background The purpose is to define the contribution of the interferon regulatory factor‐1–dual‐specificity tyrosine phosphorylation‐regulated kinase 1α (IRF‐1–DYRK1α) axis to hepatocellular ferroptosis during liver ischemia/reperfusion injury ...
Jinping Zhang   +6 more
wiley   +1 more source

Age‐associated immune dysregulation links to disease severity in macrolide‐resistant Mycoplasma pneumoniae pneumonia: Insights from a comparative juvenile–adult mouse model

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Macrolide‐resistant Mycoplasma pneumoniae (MRMP) infected both juvenile and adult mice, with results compared to normal juvenile mice. The findings revealed comparable bacterial loads between juvenile and adult mice, yet juvenile mice exhibited more severe lung damage and elevated levels of inflammatory cytokines.
Xuejun Li   +12 more
wiley   +1 more source

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