A5081802947- Neurogenetic and Muscular Disorders Research
- Epilepsy research and treatment
- Neonatal and fetal brain pathology
- Congenital Anomalies and Fetal Surgery
- Neuroscience and Neuropharmacology Research
- Tumors and Oncological Cases
- Traumatic Brain Injury and Neurovascular Disturbances
- Spinal Dysraphism and Malformations
- RNA modifications and cancer
- Infant Development and Preterm Care
- Autoimmune Neurological Disorders and Treatments
- Genetic Neurodegenerative Diseases
- Nuclear Structure and Function
- Cerebrospinal fluid and hydrocephalus
- Cardiomyopathy and Myosin Studies
- Mechanical Circulatory Support Devices
- EEG and Brain-Computer Interfaces
- Laser Applications in Dentistry and Medicine
- Genomics and Rare Diseases
- Immune responses and vaccinations
- Cell Adhesion Molecules Research
- Cleft Lip and Palate Research
- Pharmacological Effects and Toxicity Studies
- Fetal and Pediatric Neurological Disorders
- Attention Deficit Hyperactivity Disorder
Arkansas Children's Hospital
2018-2024
University of Arkansas for Medical Sciences
2018-2024
Cure Spinal Muscular Atrophy
2024
Lovely Professional University
2020-2022
Arya Vaidya Sala
2020
SUNY Downstate Health Sciences University
2016-2017
State University of New York
2016
Govind Ballabh Pant Hospital
2012
Spinal muscular atrophy is treated with onasemnogene abeparvovec, which replaces the missing survival motor neuron 1 gene via an adeno-associated virus vector. As of July 1, 2020, we had identified 3 infants who developed thrombotic microangiopathy following abeparvovec. Early recognition and treatment drug-induced may lessen mortality morbidity.
Spinal muscular atrophy (SMA) is an autosomal recessive progressive neurodegenerative primary motor neuron disorder caused by biallelic variants of the survival 1 (
Abstract Background Data on combining molecular therapies that increase survival motor neuron protein for spinal muscular atrophy type 1 (SMA1) is lacking. Methods This was a retrospective study describing our centers' experiences in treating SMA1 patients with combination therapy. Results Five children received nusinersen and onasemnogene abeparvovec‐xioi (onasemnogene). Four were receiving prior to onasemnogene. Nusinersen continued three. Marked liver enzyme elevations resulted prolonged...
Abstract Objective The US risdiplam expanded access program (EAP; NCT04256265) was opened to provide individuals with Type 1 or 2 spinal muscular atrophy (SMA) who had no satisfactory treatment options prior commercial availability. designed collect safety data during treatment. Methods Patients were enrolled from 23 non‐preselected sites across 17 states and treated orally once daily. Eligible patients a 5q autosomal recessive SMA diagnosis, aged ≥2 months at enrollment, ineligible for...
Spinal Muscular Atrophy is a neurodegenerative disease which can lead to muscle weakness, paralysis, and in some cases death. There are many factors that contribute the severity of symptoms those be used determine best course treatment for patients. We looked through published literature create set considerations patients with including age, type, SMN2 copies, any familial considerations. This serve as guide what consider SMA clinically.
To report a case of TMA in 6 month-old patient with SMA type 1 after Zolgensma administration.
Abstract Introduction/Aims While prompt identification and treatment of infants with spinal muscular atrophy (SMA) can ameliorate outcomes, variability persists. This study assessed management outcomes early‐treated SMA. Methods We analyzed retrospective data at 12 centers on SMA treated age ≤6 weeks from August 2018 to December 2023. Results Sixty‐six patients, 35 two SMN2 copies 31 ≥3 copies, were included. Twenty‐five (38%, 22 copies), had findings before initial which was onasemnogene...
Early-onset epileptic encephalopathies are among the most severe early-onset epilepsies, leading to progressive neurodegeneration. An increasing number of novel genetic causes continue be uncovered as primary etiology.We report a girl infant Semitic (Saudi Arabian) descent who presented with multifocal seizures and later developed intractable infantile spasms myoclonic seizures. Her clinical features electroencephalography were consistent encephalopathy. Whole exome sequence analysis showed...
The Mother and Child Protection (MCP) card is a widely used, user-friendly, community-based tool designed to support an integrated approach ensuring proper maternity child care. It promotes survival growth through family-centered, interventions. This study aims examine the utilization distribution of MCP in Uttar Pradesh, using data from fifth round National Family Health Survey (NFHS-5) 2019 2021. primary objective present understand factors influencing usage. To explore this, bivariate...
To determine the frequency, predictors, and outcomes of seizures in patients with myelomeningocele, we retrospectively analyzed data from myelomeningocele followed longitudinally at a single center 1975 to 2013. We identified total 122 (61% female). The mean follow-up duration was 11.1 years (minimum-maximum = 0-34.5 years, SD 8.8, median 9.1 years). A 108 (88.5%) had hydrocephalus, 98 (90.7%) those required ventriculoperitoneal shunt procedure. Twenty-four (19.7%) manifested seizures, 23...
Objective: Report of severe myopathy in two patients after use Moringa Background: Moringa, a plant originating Asia and Africa, is widely used as food source for its medicinal properties. lowers the cholesterol level by inhibition HMG-CoA reductase. Design/Methods: Case report Results: 1: A 53 year-old woman statin naive presented with subacute proximal weakness CK 19,210 U/L taking 2 weeks. Thyroid ultrasound, CT chest, abdomen pelvis, SPEP, AFP, CEA, CA-125, CA 19-9 were negative. ANA,...
Abstract There is increasing recognition of the role played by neuroinflammation both as a factor in development epilepsy well consequence seizures. Autoimmune encephalitis and epilepsies have emerged an important etiology drug-refractory epilepsies. The these entities vital for immunomodulation cornerstone its management. Immunotherapy treatment regimens conditions continue to be refined, there knowledge their use. This article attempts review experience with use different immunotherapies...
In Ayurveda the concept of Buddha covers a wide range.It actually considered as ultimate knowledge.At beginning, proper perception knowledge takes place by indriyas later it processed with mana, after manovyapara Buddhi was formed.In human intelligence is ability to acquire and apply skills.Language, memory speech all these are essential for knowledge, hence higher intellectual functions.In Ayurveda, till date there aren't enough studies available on Buddhi.Here detailed description its...
To report that dexamethasone may be an effective treatment of IS.