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.
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The occurrence of p53 loss of heterozygosity (LOH) is a common genetic event in malignancy. LOH occurs when a heterozygous locus loses one of its two parental alleles, becoming homozygous at that locus, by either copy number loss (CNL-LOH) or by becoming copy number neutral (CNN-LOH). A role for CNL-LOH (cnLOH) has been postulated in cancer aetiology. Loss of heterozygosity (LOH) results in irreversible genetic loss. ⋯ The results reported herein endorse the value of utilizing FFPE DNA in identifying LOH as a prognostic factor in LMS. The results have implications for tumour biobanking and precision medicine in patients with sarcomas.
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It is known that vertical transmission of various infections poses a potential risk to the fetus, especially in early pregnancy. Potential effects of SARS-CoV-2 infection on early pregnancy and placental formation and functions still remain unknown. ⋯ We did not find any evidence for unfavorable prenatal biochemical, ultrasound markers of fetal aneuploidy screening tests, and pregnancy loss rates in our study group.
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Abnormal lipid profile as one of reversible cardiovascular disease risk factors might be affected by poor sleep quality. ⋯ Our study illustrates that poor sleep quality is a risk factor for poorer lipid profile. Therefore, early behavioral or pharmacological interventions that improve sleep quality are necessary to modify lipid profile in elderly population.