Browsing by Author "Dimitrijevic, Sanja (57203016925)"

Introduction: Febrile seizures (FS) are the most common neurological disease in childhood. The etiology of FS is the subject of numerous studies including studies regarding genetic predisposition. Aim: The aim of the study was to analyze the association of TRPV1 rs222747 and KCC2 rs2297201 gene polymorphisms with the occurrence of FS. Materials and Methods: The study included 112 patients diagnosed with FS classified as simple febrile seizures (SFS) or complex febrile seizures (CFS). We analyzed selected polymorphisms of KCC2 and TRPV1 genes using the Real-time PCR method. Results: The CT and TT genotypes of the rs2297201 polymorphism of the KCC2 gene are significantly more common in the group of children with FS than the control group (p =.002) as well as the allele T of this polymorphism (p =.045). Additionally, genotypes CT and TT of the rs2297201 polymorphism of the KCC2 gene were more frequent in the group of children with CFS compared to the control group (p <.001). Different genotypes and alleles of the rs222747 TRPV1 gene polymorphism were not associated with the occurrence of febrile seizures or epilepsy, nor were associated with the occurrence of a particular type of febrile seizure (p =.252). Conclusion: These results indicate that the CT and TT genotypes, as well as the T allele of rs2297201 polymorphism of the KCC2 gene, could be a predisposing factor for the FS, as well as the occurrence of CFS. © The Author(s) 2022.

Introduction: Febrile seizures (FS) are the most common neurological disease in childhood. The etiology of FS is the subject of numerous studies including studies regarding genetic predisposition. Aim: The aim of the study was to analyze the association of TRPV1 rs222747 and KCC2 rs2297201 gene polymorphisms with the occurrence of FS. Materials and Methods: The study included 112 patients diagnosed with FS classified as simple febrile seizures (SFS) or complex febrile seizures (CFS). We analyzed selected polymorphisms of KCC2 and TRPV1 genes using the Real-time PCR method. Results: The CT and TT genotypes of the rs2297201 polymorphism of the KCC2 gene are significantly more common in the group of children with FS than the control group (p =.002) as well as the allele T of this polymorphism (p =.045). Additionally, genotypes CT and TT of the rs2297201 polymorphism of the KCC2 gene were more frequent in the group of children with CFS compared to the control group (p <.001). Different genotypes and alleles of the rs222747 TRPV1 gene polymorphism were not associated with the occurrence of febrile seizures or epilepsy, nor were associated with the occurrence of a particular type of febrile seizure (p =.252). Conclusion: These results indicate that the CT and TT genotypes, as well as the T allele of rs2297201 polymorphism of the KCC2 gene, could be a predisposing factor for the FS, as well as the occurrence of CFS. © The Author(s) 2022.

Purpose: Tunnel syndromes around the foot and ankle are underrecognized and frequently misdiagnosed nerve entrapments that can significantly impact patients' quality of life. This review aims to provide a comprehensive overview of the etiology, clinical presentation, diagnostic challenges, and management strategies for these syndromes, focusing on the sural nerve, deep peroneal nerve, tibial nerve, medial plantar nerve, and inferior calcaneal nerve. Methods: A thorough literature review was conducted, examining studies and case reports on nerve entrapments in the foot and ankle. The review covers the clinical assessment, differential diagnosis, and treatment options, including conservative and surgical interventions. Results: Tunnel syndromes of the foot and ankle can arise from various causes, including trauma, anatomical variations, repetitive strain, and systemic conditions. Clinical manifestations often include burning pain, tingling, and motor weakness, depending on the affected nerve. Accurate diagnosis relies on a detailed patient history, physical examination, and adjunctive tests such as electrodiagnostic and imaging. Conservative treatments, such as physical therapy, orthotics, and corticosteroid injections, are often effective, while surgical decompression is reserved for refractory cases. Conclusions: Recognizing and diagnosing tunnel syndromes in the foot and ankle is essential for effective management and preventing permanent nerve damage. A systematic approach that integrates clinical evaluation and appropriate imaging can improve patient outcomes. Timely intervention, whether conservative or surgical, is crucial for alleviating symptoms and restoring function. © The Author(s) 2025.