A5030393698- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- CRISPR and Genetic Engineering
- Cerebral Palsy and Movement Disorders
- Children's Physical and Motor Development
- Cardiomyopathy and Myosin Studies
- Glioma Diagnosis and Treatment
- Meningioma and schwannoma management
- Brain Metastases and Treatment
- Acute Ischemic Stroke Management
- Spine and Intervertebral Disc Pathology
- COVID-19 and healthcare impacts
- Pituitary Gland Disorders and Treatments
- Traumatic Brain Injury and Neurovascular Disturbances
- Muscle activation and electromyography studies
- Biotin and Related Studies
- Head and Neck Surgical Oncology
- Neurofibromatosis and Schwannoma Cases
- Intraoperative Neuromonitoring and Anesthetic Effects
- Lysosomal Storage Disorders Research
- Inflammatory Myopathies and Dermatomyositis
- Surgical Simulation and Training
- Vascular Procedures and Complications
- History of Medical Practice
University of Miami
2012-2024
Neurological Surgery
2019-2024
University of Miami Hospital
2023
University of Massachusetts Lowell
2022
Jackson Health System
2020
Barrow Brain and Spine
2019
Providence College
2019
Newcastle University
2019
Sylvester Comprehensive Cancer Center
2019
The Ohio State University
2014-2018
Spinal muscular atrophy type 1 (SMA1) is a progressive, monogenic motor neuron disease with an onset during infancy that results in failure to achieve milestones and death or the need for mechanical ventilation by 2 years of age. We studied functional replacement mutated gene encoding survival (SMN1) this disease.Fifteen patients SMA1 received single dose intravenous adeno-associated virus serotype 9 carrying SMN complementary DNA missing protein. Three low (6.7×1013 vg per kilogram body...
Objective To continue evaluation of the long‐term efficacy and safety eteplirsen, a phosphorodiamidate morpholino oligomer designed to skip DMD exon 51 in patients with Duchenne muscular dystrophy (DMD). Three‐year progression eteplirsen‐treated was compared matched historical controls (HC). Methods Ambulatory who were ≥7 years old amenable skipping randomized eteplirsen (30/50mg/kg) or placebo for 24 weeks. Thereafter, all received on an open‐label basis. The primary functional assessment...
Becker muscular dystrophy (BMD) is a variant of dystrophin deficiency resulting from DMD gene mutations. Phenotype variable with loss ambulation in late teenage or mid-life years. There currently no treatment for this condition. In BMD proof-of-principle clinical trial, potent myostatin antagonist, follistatin (FS), was used to inhibit the pathway. Extensive preclinical studies, using adeno-associated virus (AAV) deliver follistatin, demonstrated an increase strength. For we alternatively...
Abstract Background Spinal Muscular Atrophy type 1 (SMA1) is a rare genetic neuromuscular disease where 75% of SMA1 patients die/require permanent‐ventilation by 13.6 months. This study assessed the health outcomes infants treated with AVXS‐101 gene replacement therapy. Methods Twelve genetically confirmed homozygous deletions SMN1 and two SMN2 copies received one‐time intravenous proposed therapeutic dose in an open label conducted between December 2014 2017. Patients were followed for...
Sporadic inclusion body myositis, a variant of inflammatory myopathy, has features distinct from polymyositis/dermatomyositis. The disease affects men more than women, most commonly after age 50. Clinical include weakness the quadriceps, finger flexors, ankle dorsiflexors, and dysphagia. distribution is similar to Becker muscular dystrophy, where we previously reported improvement following intramuscular injection an isoform follistatin (FS344) by AAV1. For this clinical trial,...
• Surgical closure of the glottis is reserved for patients who have suffered progressive loss sphincteric and phonatory laryngeal function. In prevention life-threatening aspiration, a triplelayer performed with use superiorly based sternohyoid muscle flap. theoretically reversible should sufficient neuromuscular function return in any given patient. (<i>Arch Otolaryngol</i>106:422-423, 1980)
Background Many neurointerventionalists have transitioned to transradial access (TRA) as the preferred approach for neurointerventions studies continue demonstrate fewer site complications than transfemoral access. However, radial artery spasm (RAS) remains one of most commonly cited reasons conversions. We discuss benefits, techniques, and indications using long sheath in RAS present our experience after implementing a protocol routine use. Methods A retrospective review all patients...
To assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year.One hundred ninety-three patients with were recruited Jain Foundation's International Clinical Outcome Study for Dysferlinopathy. Baseline, 6-month, 1-year assessments included adapted North Star Ambulatory Assessment (a-NSAA), Motor Function Measure (MFM-20), timed function tests, 6-minute walk test (6MWT), Brooke scale, Jebsen test, manual muscle testing, hand-held...
OBJECTIVE Vascular injuries in anterior lumbar interbody fusion (ALIF) occur due to the vascular manipulation needed achieve optimal disc space exposure. In this study, authors aimed evaluate intraoperative patients undergoing single- and multilevel ALIF at a large tertiary academic center. METHODS Prospectively collected data specifically addressing postoperative complications who underwent by neurosurgery spine faculty working with specialized surgeon were retrospectively reviewed....
Spinal muscular atrophy (SMA) is the most common genetic cause of infant death with mutations survival motor neuron 1 gene (SMN1) on chromosome 5q13 affecting in 10,000 live births. SMA manifests as symmetrical weakness proximal extremity, axial, intercostal and bulbar muscles. Longitudinal studies type I 2 SMN2 copies show progressive a need for continuous non-invasive ventilation or by median age 10.5 months. The mean rate change over time CHOP INTEND (CI) score -1.27 points/year all...
Although studies continue to demonstrate lower complications in neurointerventions using transradial access (TRA) compared with transfemoral approaches, anatomic radial variants can be difficult navigate and remain one of the frequent causes site conversion.To evaluate predictors TRA failure neuroendovascular patients loops suggest a protocol for managing these anomalies.A prospective collection undergoing at participating institutions from July 2018 September 2020 was reviewed. Patients...
ABSTRACT Introduction Traditional upper extremity measures typically focus on distal abilities and do not quantify the unique progression of decline in dystrophinopathy. We designed ACTIVE‐seated to meet this need. Our objective was establish tool's validity reliability. Methods uses Microsoft Kinect gaming interface functional reaching ability while playing a custom‐designed game. A skeletal tracking algorithm used determine furthest arm excursion all planes 61 subjects with...
BACKGROUND AND OBJECTIVES: Bilateral/butterfly glioblastoma (bGBM) has a poor prognosis. Resection of these tumors is limited due to severe comorbidities that arise from surgical procedures. Laser interstitial thermal therapy (LITT) offers minimally invasive cytoreductive for deep-seated such as bGBM. The objective this study was evaluate the safety bilateral LITT in patients with METHODS: Medical records all consecutive diagnosed bGBM by single surgeon at institution January 2014 August...
During the coronavirus 19 (COVID-19) pandemic, physicians have begun adapting their daily practices to prevent transmissions. In this study we aimed provide surgical neuro-oncologists with practice guidelines during COVID-19 pandemic based on objective data from a high-volume brain tumor surgeon at current epicenter.All outpatient visits and surgeries performed by senior author were compared between initial quarantine (3/23/20-5/4/20), plateau period following (5/5/20-6/27/20), second peak...