Publications by authors named "P Krcho"
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).
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- A newborn presented with congenital testicular torsion just 10 hours after birth.
- During the evaluation, doctors discovered other malformations besides the torsion.
- The case discusses important diagnostic and treatment options for managing these conditions.
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).
View Article and Find Full Text PDFObjective: We tested the accuracy of transcutaneous bilirubin (TcB) measure in newborns undergoing phototherapy.
Study Design: In a prospective study of 150 term Caucasian neonates, 255 measurements of total serum bilirubin (TSB) and TcB concentration were obtained 2 h after discontinuing phototherapy. TcB measurements obtained on the forehead, sternum, abdomen and covered lower abdomen were statistically compared with the corresponding TSB.
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.