Purpose: We present our experience with the national epilepsy surgery program in Armenia by tracing the development of epilepsy surgery in the largest pediatric neurology department at "Arabkir" Medical Center. This development was possible on the basis of a strong collaboration with the Epilepsy Surgery center at the University Hospital "Sofia St. Ivan Rilski," Sofia, Bulgaria.
Materials And Methods: Our material included 28 consecutive patients with lesional drug-resistant epilepsy evaluated. All patients underwent 3 T MRI and Video-EEG monitoring. Brain 18FDG-PET was done in 13 patients in St. Petersburg. Fifteen patients (53%) had preoperative neuropsychological examination before surgery. All operations were done by the same neurosurgical team on site in Arabkir Hospital.
Results: The majority of the patients in our cohort benefited from the epilepsy surgery as 25 (89%) are free of disabling seizures (Engel class I) and three patients (11%) did not improve substantially (Engel class IV). Eleven patients (39%) are already ASM-free after surgery, 4 (14%) are on monotherapy, 11(39%) get two drugs, and 2(7%) are on polytherapy, one of them still continues having seizures. In 12 patients (43%), we were able either to withdraw therapy or to decrease one of the ASM.
Conclusion: We believe that, although small, yet encompassing patients along the usual age spectrum and with the most frequent pathologies of drug-resistant epilepsies, our experience can serve as a model to develop epilepsy surgery in countries with limited resources.
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http://dx.doi.org/10.3389/fneur.2023.1152275 | DOI Listing |
Int J Mol Sci
January 2025
Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.
Epilepsy affects 50 million people worldwide and is drug-resistant in approximately one-third of cases. Even when a structural lesion is identified as the epileptogenic focus, understanding the underlying genetic causes is crucial to guide both counseling and treatment decisions. Both somatic and germline DNA variants may contribute to the lesion itself and/or influence the severity of symptoms.
View Article and Find Full Text PDFChildren (Basel)
January 2025
Genetics and Molecular Biology Research Unit, Department of Molecular Biology, Medical School of São José do Rio Preto (FAMERP), Av. Brigadeiro Faria Lima, 5416, Vila São Pedro, São José do Rio Preto 15090-000, SP, Brazil.
Introduction: Joint hypermobility (JH) is mobility beyond the normal range of motion. JH can be an isolated finding or a characteristic of a syndrome. Characteristics related to the sitting position with atypical body positions, such as sitting in splits (S), with the foot on the head (F), in W (W), in a concave shape (C), episodes of dislocations, and subluxations, suggest impacts on body mechanics since childhood, with damage to the conformation of the joints.
View Article and Find Full Text PDFBiomedicines
January 2025
Translational Research Institute, Academic Health System, Hamad Medical Corporation, Doha 3050, Qatar.
/: Arterial Tortuosity Syndrome (ATS) is a rare, autosomal recessive connective tissue disorder characterized by arterial twists, abnormal bulges, constriction, and tears. Patients have distinctive features and disease manifestations. The syndrome's full clinical spectrum and course remain incompletely understood.
View Article and Find Full Text PDFGen Thorac Cardiovasc Surg Cases
January 2025
Department of Cardiovascular Surgery, Japan Organization of Occupational Health and Safety, Osaka Rosai Hospital, Sakai, Osaka, 591-8025, Japan.
Background: Epileptic seizures following adult cardiovascular surgery occur in 0.9-3% of patients, with the condition in 3-12% of these patients progressing to status epilepticus (SE). SE is a severe condition that significantly impacts prognosis and necessitates early diagnosis and treatment.
View Article and Find Full Text PDFCell Rep Med
January 2025
Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19102, USA; Department of Neuroscience, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19102, USA; The Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19102, USA. Electronic address:
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a neurodevelopmental syndrome caused by mutations in the X-linked CDKL5 gene. The early onset of CDD suggests that CDKL5 is essential during development, but post-developmental re-expression rescues multiple CDD-related phenotypes in hemizygous male mice. Since most patients are heterozygous females, studies in clinically relevant female models are essential.
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