Disruptions in Tiopronin therapy: impacts on clinical outcomes of pediatric cystinuria patients during the COVID-19 pandemic.

Cystinuria, characterized by defective renal absorption of cystine causing recurrent nephrolithiasis, demands ongoing management. This study examines the effects of COVID-19-related disruptions in tiopronin availability on the clinical outcomes of pediatric cystinuria patients. This retrospective cohort study analyzed medical records of 11 pediatric patients with cystinuria, followed from 2001 to 2023.

Cortical and subcortical structural changes in pediatric patients with infratentorial tumors.

Purpose: This study aimed to detect supratentorial cortical and subcortical morphological changes in pediatric patients with infratentorial tumors.

Methods: The study included 24 patients aged 4-18 years who were diagnosed with primary infratentorial tumors and 41 age- and gender-matched healthy controls. Synthetic magnetization-prepared rapid gradient echo images of brain magnetic resonance imaging were generated using deep learning algorithms applied to T2-axial images.

Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: an unusual case and a literature review.

The syndrome of megalencephaly, mega corpus callosum (MEG-MegaCC) accompanied by complete lack of motor development is a rare condition with only few sporadic cases having been reported in the literature. In this paper, we describe a child from non-consanguineous parents presenting with MegaCC, psychomotor retardation, and language impairment linked to MEG-MegaCC syndrome. Genetic analysis, radiological findings, and detailed neurological phenotype of MEG-MegaCC syndrome with its overlapping syndromes would allow for a better classification of the disease spectrum.

Paediatric supratentorial tumours do not cause microstructural alterations in contralateral white matter: a preliminary study.

Background And Purpose: Intracranial tumours in children can exhibit different characteristics compared to those in adults. Understanding the microstructural changes in the contralateral normal-appearing white matter (NAWM) in children with primary intracranial masses is essential for optimizing treatment strategies. This study aimed to investigate the apparent diffusion coefficient (ADC) changes in contralateral NAWM using fully automated methods and deep learning algorithms.