Results 191 to 200 of about 7,380,135 (306)

A preterm neonate with infantile liver failure syndrome 1 due to leucyl‐tRNA synthetase 1 gene (LARS1) mutations with a histopathologic phenotype of neonatal hemochromatosis

open access: yesJPGN Reports, EarlyView.
Abstract We report a case of a premature, growth‐restricted female infant with feeding intolerance and coagulopathy, treated initially for sepsis, who progressed to neonatal acute liver failure and end‐stage hepatic encephalopathy after a prolonged hospitalization with extensive diagnostic evaluation, and was found by autopsy to have histopathologic ...
Adrienne Bruder   +3 more
wiley   +1 more source

Nail Disorders in Systemic Conditions

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source

MEK Inhibitor Associated Airway Injury in an Infant With Noonan Syndrome: A Case Report

open access: yesThe Laryngoscope, EarlyView.
An infant with Noonan syndrome treated with trametinib developed extensive mucosal sloughing of the upper and lower airway, followed by severe supraglottic scarring. Clinicians should consider airway toxicity as a potential adverse effect of MEK inhibitor therapy.
Veronica Drozdowski‐Nuccio   +4 more
wiley   +1 more source

Strategies for preventing arrhythmic sudden death in adult congenital heart disease. [PDF]

open access: yesEur Heart J Suppl
Sarubbi B   +4 more
europepmc   +1 more source

Cervical Inlet Patches in R‐CPD: An Unrecognized Predictor of Treatment Failure

open access: yesThe Laryngoscope, EarlyView.
This retrospective cohort study identified cervical inlet patches (CIP) in 19.8% of patients undergoing cricopharyngeal botulinum toxin injection for R‐CPD. CIP presence and increasing age independently predicted failure to sustain a long‐term treatment response, suggesting that CIP may be an underrecognized factor in R‐CPD treatment durability ...
Andrew Geoffrey Tritter   +2 more
wiley   +1 more source

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