A5012147425- Meningioma and schwannoma management
- Melanoma and MAPK Pathways
- Brain Metastases and Treatment
- Cutaneous Melanoma Detection and Management
- Vascular Malformations Diagnosis and Treatment
- Head and Neck Surgical Oncology
- Neurofibromatosis and Schwannoma Cases
- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Ubiquitin and proteasome pathways
- Mitochondrial Function and Pathology
- Intraocular Surgery and Lenses
- Atomic and Subatomic Physics Research
- Metabolism and Genetic Disorders
- Trigeminal Neuralgia and Treatments
Corporació Sanitària Parc Taulí
2023
Hospital Clínico Universitario Lozano Blesa
2021-2022
Ospedale San Filippo Neri
2022
ASL Roma
2022
Instituto de Investigación Sanitaria Aragón
2021
Universidad de Zaragoza
2020
Encephalomyopathic mtDNA depletion syndrome 13 (MTDPS13) is a rare genetic disorder caused by defects in F-box leucine-rich repeat protein 4 (FBXL4). Although FBXL4 essential for the bioenergetic homeostasis of cell, precise role remains unknown. In this study, we report two cases unrelated patients presenting neonatal period with hyperlactacidemia and generalized hypotonia. Severe was detected muscle biopsy both patients. Genetic analysis showed one patient as having compound heterozygosis...
Background: Cervical schwannoma is a rare neoplasm that usually occurs like nondolent lateral neck mass but when growing and symptomatic requires radical excision. Sodium fluorescein (SF) dye uptake by schwannomas, which makes it amenable for its use in the resection of difficult or recurrent cases. Methods: We describe case patient presenting with recurrence vagus nerve cervical region step-by-step technique complete microsurgical exeresis helped SF dye. Results: achieved exeresis, despite...
We performed a retrospective nonrandomized study to analyze the results of microsurgery intracranial meningiomas using 2-μm thulium flexible handheld laser fiber (Revolix jr).From February 2014 December 2021, 75 nonconsecutive patients suffering from meningiomas, admitted in our department, have been operated on with microsurgical technique assisted by laser. reviewed demographic and clinical data evaluate safety efficacy technique.There were no complications related use high percentage...