Publications by authors named "Tami Uster"
Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.
J Clin Endocrinol Metab
September 2021
Context: Idiopathic infantile hypercalcemia (IIH), an uncommon disorder characterized by elevated serum concentrations of 1,25 dihydroxyvitamin D (1,25(OH)2D) and low parathyroid hormone (PTH) levels, may present with mild to severe hypercalcemia during the first months of life. Biallelic variants in the CYP24A1 or SLC34A1 genes are associated with severe IIH. Little is known about milder forms.
View Article and Find Full Text PDFSonographic clues to the diagnosis of congenital myotonic dystrophy (CDM) are limited, particularly in the absence of family history of myotonic dystrophy (DM). We reviewed cases of CDM for unique prenatal findings. A single-center case series of fetuses with CMD with characteristic prenatal findings confirmed postnatally.
View Article and Find Full Text PDFArticle Synopsis
- The development of the cerebral cortex relies on the proper growth and differentiation of neural stem cells, and mistakes in these processes can lead to issues like periventricular neuronal heterotopia, where neurons are misplaced.
- Mutations in the genes DCHS1 and FAT4 have been identified as causing a genetic syndrome in humans that includes this mislocalization of neurons.
- In experiments with mice, reducing the expression of Dchs1 or Fat4 led to an increase in neural progenitor cells and a decrease in their conversion to neurons, resulting in similar brain structure abnormalities seen in humans, which could be reversed by reducing Yap activity, highlighting its role in neurogenesis regulation. *
Purpose: KCNQ2 mutations have been found in patients with benign familial neonatal seizures, myokymia, or early onset epileptic encephalopathy (EOEE). In this study, we aimed to delineate the clinical spectrum of EOEE associated with KCNQ2 mutation.
Methods: A total of 239 patients with EOEE, including 51 cases with Ohtahara syndrome and 104 cases with West syndrome, were analyzed by high-resolution melting (HRM) analysis or whole-exome sequencing.
Although biallelic mutations in non-collagen genes account for <10% of individuals with osteogenesis imperfecta, the characterization of these genes has identified new pathways and potential interventions that could benefit even those with mutations in type I collagen genes. We identified mutations in FKBP10, which encodes the 65 kDa prolyl cis-trans isomerase, FKBP65, in 38 members of 21 families with OI. These include 10 families from the Samoan Islands who share a founder mutation.
View Article and Find Full Text PDFObjective: To report the prenatal findings and postnatal outcome of fetal ventriculomegaly associated with isolated large choroid plexus cysts (CPCs).
Method: Cases of isolated fetal ventriculomegaly and large CPCs (>10 mm) were identified through a search of patient records from 2003 to 2006. Ultrasound (US) findings were reviewed: unilateral or bilateral ventriculomegaly, ventricular size, size of CPCs, and changes on serial scans.