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Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis.
Clin Genet
December 2024
Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran.
Ataxia with Vitamin E Deficiency (AVED) is a rare autosomal recessive genetic disorder, that caused by pathogenic variants in the TTPA gene, which encodes the alpha-tocopherol transfer protein. This study investigates eight patients from three consanguineous Iranian families, using exome sequencing (ES) and Sanger sequencing to identify novel pathogenic variants in the TTPA gene. Two variants were identified: c.
View Article and Find Full Text PDFComparative efficacy and safety of therapeutic strategies for mirror aneurysms: A systematic review and meta-analysis.
Neurosurg Rev
December 2024
Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
Mirror aneurysms are rare and pose therapeutic challenges, with both endovascular and microsurgical options available. Single-stage and two-stage procedures are employed, but the optimal strategy remains unclear. This systematic review and meta-analysis evaluate the efficacy and safety of different therapeutic strategies for managing mirror aneurysms.
View Article and Find Full Text PDFTreatment Challenges in Hemifacial Spasm: The Role of Magnetic Resonance Imaging.
World J Plast Surg
January 2024
Department of Radiology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Hemifacial spasm (HFS) is an important condition for plastic surgeons to understand, as it significantly affects patients' quality of life and can complicate aesthetic and reconstructive procedures. Magnetic resonance imaging (MRI) has become vital in diagnosing HFS, assessing neurovascular relationships, and planning treatment. Transverse MRI scans often show an upward displacement of the inferior pons at the facial nerve attachment point, signaling neurovascular compression (NVC) in HFS.
View Article and Find Full Text PDFA Focus on Myasthenic Ptosis: The Interface of Medical and Surgical Treatment.
World J Plast Surg
January 2024
Department of Neurosurgery, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Article Synopsis
- Ocular ptosis is the drooping of the upper eyelid, and it can result from various causes, including both neurological and non-neurological issues.
- Commonly seen in the elderly, aponeurotic ptosis arises from age-related changes, while younger individuals may experience drooping from trauma or mechanical factors.
- Treatment choices vary by cause, with options ranging from medications to surgery, particularly for patients with myasthenia gravis, an autoimmune condition that can lead to significant lid drooping.
Prognostic role of quantitative pupillometry in traumatic brain injury: a scoping review.
Neurol Sci
December 2024
School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Background: Traumatic brain injury (TBI) is a major cause of global mortality and disability, leading to primary and secondary brain injuries that can result in severe neurological, cognitive, and psychological impairments. Accurate and early prognosis of TBI outcomes is critical, particularly in assessing the risk of neurological decline, intracranial pressure (ICP) changes, and mortality.
Objective: This systematic review aims to evaluate the prognostic value of quantitative pupillometry, particularly the Neurological Pupil Index (NPi), in predicting long-term outcomes in TBI patients.
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