Irish journal of medical science
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Review Case Reports
Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature.
Aminoacylase-1 deficiency (ACY1D) is an autosomal recessive rare inborn error of metabolism, which is caused by disease-causing variants in the ACY1. This disorder is characterized by increased urinary excretion of specific N-acetyl amino acids. Affected individuals demonstrate heterogeneous clinical manifestations which are primarily neurologic problems. In neuroimaging, corpus callosum hypoplasia, cerebellar vermis atrophy, and delayed myelination of cerebral white matter have been reported. ⋯ Our findings expanded the phenotype spectrum of ACY1-related neurodegeneration by demonstrating persistent basal ganglia involvement and moderate to severe generalized dystonia.
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Overweight and obesity epidemic is still expanding, and it is affecting women of childbearing age. Multiple studies have shown unmatched results concerning the effect of body mass index (BMI) besides gestational weight gain (GWG) on pregnancy and neonatal outcomes. This study aims to determine the effect of each of the two anthropometric indicators: pre-gestational BMI and gestational weight gain on the course of pregnancy, and neonatal outcomes. ⋯ Both extremes of BMI and GWG are linked to adverse neonatal outcomes. This highlights the importance of weight monitoring even during pregnancy to prevent its negative impact on neonates.