Publications by authors named "P Jesina"
Article Synopsis
- The study investigates brain morphology in late-onset Tay-Sachs disease (LOTS), focusing on cerebellar atrophy and other morphological changes using advanced neuroimaging techniques.
- Fourteen LOTS patients showed significant cerebellar atrophy, particularly in lobules V and VI, along with atrophy in critical areas for motor control, including thalamic nuclei and motor cortex.
- Results indicate that cerebellar and motor region atrophy correlates with speech and motor function impairments, suggesting central motor circuit abnormalities in LOTS patients.
Background: Currently, it is not possible to predict whether patients with hyperuricemia (HUA) will develop gout and how this progression may be affected by urate-lowering treatment (ULT). Our study aimed to evaluate differences in plasma lipidome between patients with asymptomatic HUA detected ≤ 40 years (HUA ≤ 40) and > 40 years, gout patients with disease onset ≤ 40 years (Gout ≤ 40) and > 40 years, and normouricemic healthy controls (HC).
Methods: Plasma samples were collected from 94 asymptomatic HUA (77% HUA ≤ 40) subjects, 196 gout patients (59% Gout ≤ 40), and 53 HC.
Purpose: Zellweger spectrum disorders (ZSDs) are known as autosomal recessive disorders caused by defective peroxisome biogenesis due to bi-allelic pathogenic variants in any of at least 13 different PEX genes. Here, we report 2 unrelated patients who present with an autosomal dominant ZSD.
Methods: We performed biochemical and genetic studies in blood and skin fibroblasts of the patients and demonstrated the pathogenicity of the identified PEX14 variants by functional cell studies.
The present study aimed to elucidate the effect of sulforaphane (a natural isothiocyanate) on oxidative stress and mitochondrial dysfunction during and at selected periods following status epilepticus (SE) induced in immature 12-day-old rats by Li-pilocarpine. Dihydroethidium was employed for the detection of superoxide anions, immunoblot analyses for 3-nitrotyrosine (3-NT) and 4-hydroxynonenal (4-HNE) levels and respiratory chain complex I activity for evaluation of mitochondrial function. Sulforaphane was given i.
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- Regulation of hydrogen sulfide (HS) homeostasis in humans is not well understood, prompting a study of patients with rare enzyme deficiencies related to HS synthesis and catabolism.
- Analysis of sulfur compounds in these patients revealed unexpected results, such as increased bioavailable sulfide levels in those with cystathionine β-synthase (CBS) deficiency, suggesting compensatory mechanisms at play.
- The study highlights the complexity of HS regulation, showing that various genetic defects can lead to altered levels of sulfur compounds, underscoring the need for a thorough understanding of HS homeostasis in metabolic disorders.