ABSTRACT
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). The three patients with milder myopathy were mosaic for their variants. In contrast, in the severely affected patient, the missense variant was present in a de novo, constitutional form. The grade of mosaicism in the three mosaic patients ranged between 20 % and 40 %. We speculate that the milder clinical and histological manifestations of the same ACTA1 variant in the patients with mosaicism reflect the lower abundance of mutant actin in their muscle tissue. Similarly, the asymmetry of body growth and muscle weakness may be a consequence of the affected cells being unevenly distributed. The partial improvement in muscle strength with age in patients with mosaicism might be due to an increased proportion over time of nuclei carrying and expressing two normal alleles.
Subject(s)
Muscular Diseases , Myopathies, Nemaline , Humans , Myopathies, Nemaline/genetics , Myopathies, Nemaline/pathology , Muscle, Skeletal/pathology , Actins/genetics , Mutation , Muscular Diseases/genetics , Amino Acids/genetics , Amino Acids/metabolismABSTRACT
OBJECTIVE: 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). Retrograde flow in the middle cerebral artery indicates already deteriorating circulatory conditions in the fetal brain with loss of autoregulatory mechanisms and critical damage to the vascular supply. Detection of this finding allows to improve the diagnosis of ICH and also affects the prognosis and management of pregnancy. We report the case of critical intracranial hypertension in fetal intracranial hemorrhage manifested by cerebral artery reverse flow.
Subject(s)
Fetal Diseases , Intracranial Hypertension , Pregnancy , Female , Humans , Intracranial Hemorrhages/complications , Intracranial Hemorrhages/diagnostic imaging , Prognosis , Intracranial Hypertension/diagnosis , Intracranial Hypertension/diagnostic imaging , Cerebral Arteries , Cerebral HemorrhageABSTRACT
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.
Subject(s)
Aortic Valve Stenosis/surgery , Dilatation, Pathologic/surgery , Pulmonary Valve Stenosis/surgery , Adult , Aortic Valve Stenosis/complications , Cardiovascular Surgical Procedures , Child , Dilatation, Pathologic/complications , Female , Humans , Male , Pulmonary Valve Stenosis/complications , Reoperation , Transplantation, Autologous , Young AdultABSTRACT
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. We tested the hypothesis that the protein concentration would increase less than that of other nutrients. Thirty breast milk samples were obtained from mothers of preterm infants (gestational age 28-36 weeks; birthweight 900-2,470 g). The concentrations of fat, carbohydrates, dry matter, protein and energy in the breast milk samples were analyzed and compared with the concentrations of these nutrients in the same samples of milk fortified with a standard amount of HMF FM 85. Dry matter and energy content increased the most after fortification. Although protein also increased, the magnitude of this increase was small relative to the increases in the other components. Lipid concentrations did not significantly change with fortification. Protein is needed for adequate growth in premature infants; however, fortification of breast milk from the mothers of preterm infants resulted in only a small increase in this essential nutrient. Based on these results, we conclude that fortification of human milk must be individually adjusted based on continuous analysis of breast milk composition. Customized fortification would provide more optimal nutrition to preterm infants to support better growth and development.
