Publications by authors named "P Winckler"
Article Synopsis
- Epilepsy surgery is effective for patients with drug-resistant epilepsy, but many are not referred for necessary evaluation and monitoring.
- The CASES online tool was developed to assist physicians in making referrals for patients who might benefit from epilepsy surgery.
- In a study with 211 patients, CASES identified 59.6% as candidates for surgical assessment, highlighting factors like seizure frequency and medication trials as important for referral decisions.
Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil.
J Pediatr (Rio J)
January 2025
Objective: Spinal Muscular Atrophy linked to chromosome 5q (SMA) is an autosomal recessive neurodegenerative disease characterized by progressive proximal muscle atrophy and weakness. This study addresses the scarcity of research on novel disease-modifying therapies for SMA in Latin America by reporting a real-world experience in Southern Brazil.
Methodology: This is a single-center historical cohort that included all patients diagnosed with spinal muscular atrophy at a Regional Reference Service for rare diseases.
Limb-girdle muscular dystrophy type 2G/R7 (LGMD2G/R7) is an ultra-rare condition initially identified within the Brazilian population. We aimed to expand clinical and genetic information about this disease, including its worldwide distribution. A multicenter historical cohort study was performed at 13 centers in Brazil in which data from index cases and their affected relatives from consecutive families with LGMD2G/R7 were reviewed from July 2017 to August 2023.
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- Myotonic dystrophy type 1 (DM1) is a dominant neuromuscular disease with distal weakness, while limb-girdle muscular dystrophy type 2B (LGMD2B) is a recessive condition characterized by proximal weakness, which may coexist in patients with a family history of consanguinity.
- A reported case involves a 38-year-old woman diagnosed with both DM1 and LGMD2B, highlighting that genetic testing revealed the LGMD2B diagnosis due to her consanguineous parents and elevated creatine kinase levels.
- Identifying atypical disease presentations is crucial, as it may indicate the presence of a second genetic disorder, leading to improved genetic counseling and appropriate treatment options.