Publications by authors named "S Asilsoy"

We report a pediatric patient with prolidase deficiency, caused by a mutation in the PEPD gene, which encodes the enzyme prolidase D, with a lupus-like clinic and marked dysmorphic features along with pulmonary, neurological, skeletal, and immune system involvement. In addition to being the first known case in the literature where Friedrich's ataxia and prolidase deficiency were observed together, we aimed to highlight that this diagnosis should be considered in patients with autoimmunity and additional systemic findings such as treatment-resistant skin lesions, intellectual disability, and pulmonary manifestations. Furthermore, we sought to compare this case with others documented in the literature.

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Cutaneous adverse reactions (CARs) are one of the most important reasons for anti-seizure medication (ASM) discontinuation in epilepsy. However, such discontinuations can cause an increase in seizures. This study investigates the risk factors for ASM-related rash recurrence in children.

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Objective: Atopic dermatitis (AD) is a chronic inflammatory skin disease that can occur at any age. This study aimed to evaluate the impact of food allergy on disease severity as well as clinical/laboratory findings in children with AD.

Methods: Clinical and laboratory data of AD patients evaluated for food allergy between January 2021 and December 2022 were examined retrospectively.

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Background: Respiratory system involvement is common in congenital plasminogen deficiency. Although many treatment approaches have been tried, there is still no definitive treatment for respiratory system involvement.

Observations: We report 2 congenital plasminogen deficiency cases, who presented with severe respiratory symptoms, for whom a novel treatment modality was tried.

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