Publications by authors named "A Mirchi"

Purpose Of Review: To highlight the clinical presentation, diagnostic approach, and management of acquired inflammatory demyelinating syndromes in children.

Recent Findings: The identification of myelin oligodendrocyte glycoprotein antibody-associated disease in 2017 and evolving evidence regarding best practices for management has had a significant impact on pediatric neuroimmunology, as has the shift in treatment of pediatric-onset multiple sclerosis, with the use of high-efficacy disease-modifying therapies early in the disease course.

Summary: With expanding awareness and growing interest in pediatric onset neuroinflammatory conditions, the number of children diagnosed with acquired demyelinating syndromes is rising.

View Article and Find Full Text PDF

Scarcity of stream salinity data poses a challenge to understanding salinity dynamics and its implications for water supply management in water-scarce salt-prone regions around the world. This paper introduces a framework for generating continuous daily stream salinity estimates using instance-based transfer learning (TL) and assessing the reliability of the synthetic salinity data through uncertainty quantification via prediction intervals (PIs). The framework was developed using two temporally distinct specific conductance (SC) datasets from the Upper Red River Basin (URRB) located in southwestern Oklahoma and Texas Panhandle, United States.

View Article and Find Full Text PDF

As global climate change poses a challenge to crop production, it is imperative to prioritize effective adaptation of agricultural systems based on a scientific understanding of likely impacts. In this study, we applied an integrated watershed modeling framework to examine the impacts of projected climate on runoff, soil moisture, and soil erosion under different management systems in Central Oklahoma. The proposed model uses measured climate data and three downscaled ensembles from the Coupled Model Intercomparison Project Phase 6 (CMIP6) at the water resources and erosion watershed to understand the impact of climate change and various climate conditions under three management systems: (1) continuous winter wheat (Triticum aestivum) under conventional tillage (WW-CT; baseline system), (2) continuous winter wheat under no-till (WW-NT), and (3) cool and warm season forage cover crop mixes under no-till (CC-NT).

View Article and Find Full Text PDF

Background: Biallelic pathogenic variants in SLC17A5 cause three forms of free sialic acid storage disease categorized based on severity from least to most severe: Salla disease, intermediate-severe Salla disease, and infantile free sialic acid storage disease. Intermediate-severe Salla disease is the most recently described form. Here, we report a longitudinal characterization of intermediate-severe Salla disease progression in two sisters carrying the following biallelic variants in SLC17A5: c.

View Article and Find Full Text PDF
Article Synopsis
  • RNA polymerase III-related or 4H leukodystrophy (POLR3-HLD) is a genetic disorder leading to neurological issues, dental problems, and hormonal deficiencies, caused by mutations in specific genes.
  • A study evaluated the craniofacial features of 31 POLR3-HLD patients, revealing common abnormalities like a flat midface, smooth philtrum, and pointed chin, with different features linked to specific gene mutations.
  • The findings highlight that craniofacial abnormalities are prevalent in POLR3-HLD, offering detailed insights into the dysmorphic traits associated with the various genetic variants involved.
View Article and Find Full Text PDF