A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.

We describe three patients with asymmetric congenital myopathy without definite nemaline bodies and one patient with severe nemaline myopathy. In all four patients, the phenotype had been caused by pathogenic missense variants in ACTA1 leading to the same amino acid change, p.(Gly247Arg).

Cerebral artery reverse flow as an indicator of critical intracranial hypertension in fetal intracranial hemorrhage: Case report.

Intracranial hemorrhage (ICH) is a rare serious fetal event. It manifests via non-specific sonographic findings such as: ventriculomegaly, increased periventricular echogenity, hyperechogenic ependyma and presence of avascular intracranial masses. Severe ICH causes an increase in fetal intracranial pressure, which can be quantified in utero by the presence of reverse flow in the middle cerebral artery (MCA-REDF).

Follow-up after the Ross procedure, how significant it is, case reports of three patients.

Background: Dilatation of the pulmonary autograft is a major drawback of the Ross procedure and it is the leading cause for reoperation in these patients.

Case Presentation: In this report we describe 3 cases reports, each one with a different outcome, of patients that underwent the Ross procedure.

Conclusions: In order to prevent any lethal or non-lethal complications of the pulmonary autograft these patients need a close and life- long systematic follow-up.

Analysis of Human Milk Composition After Preterm Delivery With and Without Fortification.

Human milk is often assumed to have a consistent composition, and when fortification is needed, fortifiers are added at fixed doses. However, if the milk contains less than the assumed quantities of nutrients, then the infant drinking that milk may receive inadequate nutrition. In this study, we compared changes in the concentrations of the main constituents of human breast milk before and after fortification.