0000000000459918
AUTHOR
Giusy Morgante
showing 2 related works from this author
Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of …
2022
Abstract Background Osteopathia Striata with Cranial Sclerosis (OS-CS), also known as Horan-Beighton Syndrome, is a rare genetic disease; about 90 cases have been reported to date. It is associated with mutations (heterozygous for female subjects and hemizygous for males) of the AMER1 gene, located at Xq11.2, and shows an X-linked pattern of transmission. Typical clinical manifestations include macrocephaly, characteristic facial features (frontal bossing, epicanthal folds, hypertelorism, depressed nasal bridge, orofacial cleft, prominent jaw), hearing loss and developmental delay. Males usually present a more severe phenotype than females and rarely survive. Diagnostic suspicion is based o…
Reverse remodeling and arrhythmic burden reduction in a patient with an implantable cardioverter defibrillator treated with sacubitril/valsartan: Cas…
2020
Abstract Sacubitril/valsartan has been shown to reduce cardiovascular mortality and hospitalizations in patients with HFrEF when compared to enalapril. There are also some evidences of its potential antiarrhythmic effects. We present a report where we found a relation between reverse ventricular remodeling and arrhythmic reduction in a patient treated with sacubitril/valsartan.