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Full-Text Articles in Nervous System Diseases
What Do We Know So Far About Ofatumumab For Relapsing Multiple Sclerosis? A Meta-Analytical Study, Hafiza Munazza Taj, Maryam Talib, Sania Siddiqa, Azza Sarfraz, Zouina Sarfraz, Karla Robles-Velasco, Ivan Cherrez-Ojeda
What Do We Know So Far About Ofatumumab For Relapsing Multiple Sclerosis? A Meta-Analytical Study, Hafiza Munazza Taj, Maryam Talib, Sania Siddiqa, Azza Sarfraz, Zouina Sarfraz, Karla Robles-Velasco, Ivan Cherrez-Ojeda
Department of Paediatrics and Child Health
Ofatumumab is a monoclonal antibody that reduces the level of B cells that alter the progression of relapsing multiple sclerosis. Originally approved by the Food and Drug Administration (FDA) in August 2020, this meta-analysis determines the outcomes of four randomized controlled trials (RCTs) for endline outcomes of Gadolinium-enhancing T1 lesions on MRI scans reported as Cohen's d and relapse rate reported as risk ratio. All four RCTs reported favorable findings of gadolinium-enhancing T1 lesions (Cohen's d = -0.44, p < 0.00001). The relapse rate was reduced by 46% post ofatumumab administration (RR = 0.54, p < 0.00001). With 14 ongoing trials in this area, more data is required to consolidate our findings.
A Pathogenic Ufsp2 Variant In An Autosomal Recessive Form Of Pediatric Neurodevelopmental Anomalies And Epilepsy, Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L. Cantarel, Jimin Pei, Nick V. Grishin, Stacy Hewson
A Pathogenic Ufsp2 Variant In An Autosomal Recessive Form Of Pediatric Neurodevelopmental Anomalies And Epilepsy, Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L. Cantarel, Jimin Pei, Nick V. Grishin, Stacy Hewson
Department of Paediatrics and Child Health
Purpose: Neurodevelopmental disabilities are common and genetically heterogeneous. We identified a homozygous variant in the gene encoding UFM1-specific peptidase 2 (UFSP2), which participates in the UFMylation pathway of protein modification. UFSP2 variants are implicated in autosomal dominant skeletal dysplasias, but not neurodevelopmental disorders. Homozygosity for the variant occurred in eight children from four South Asian families with neurodevelopmental delay and epilepsy. We describe the clinical consequences of this variant and its effect on UFMylation.
Methods: Exome sequencing was used to detect potentially pathogenic variants and identify shared regions of homozygosity. Immunoblotting assessed protein expression and post-translational modifications in patient-derived fibroblasts. …
The Influence Of Coronavirus Disease-2019 (Covid-19) On Parkinson’S Disease: An Updated Systematic Review, Vikash Jaiswal, Danah Alquraish, Zouina Sarfraz, Azza Sarfraz, Shavy Nagpal, Prakriti Singh Shrestha, Dattatreya Mukherjee, Prathima Guntipalli, Diana F. Sánchez Velazco, Arushee Bhatnagar
The Influence Of Coronavirus Disease-2019 (Covid-19) On Parkinson’S Disease: An Updated Systematic Review, Vikash Jaiswal, Danah Alquraish, Zouina Sarfraz, Azza Sarfraz, Shavy Nagpal, Prakriti Singh Shrestha, Dattatreya Mukherjee, Prathima Guntipalli, Diana F. Sánchez Velazco, Arushee Bhatnagar
Department of Paediatrics and Child Health
Background: COVID-19 has affected global communities with multiple neurological complications in addition to other critical medical issues. COVID-19 binds to the host's angiotensin-converting enzyme 2 (ACE2) receptors, which are expressed in the neurons and glial cells, acting as an entry port to the central nervous system (CNS). ACE2 receptors are abundantly expressed on dopamine neurons, which may worsen the prognosis of motor symptoms in Parkinson's disease (PD). SARS-CoV-2 may lead to an indirect response via immune-mediated cytokine storms and propagate through the CNS leading to damage. In this systematic review, we aim to provide thorough analyses of associations between COVID-19 …
Management Practices For West Syndrome In South Asia: A Survey Study And Meta-Analysis, Priyanka Madaan, Prem Chand, Kyaw Linn, Jithangi Wanigasinghe, Mimi Lhamu Mynak, Prakash Poudel, Raili Riikonen, Amit Kumar, Pooja Dhir, Sandeep Negi, Jitendra Kumar Sahu
Management Practices For West Syndrome In South Asia: A Survey Study And Meta-Analysis, Priyanka Madaan, Prem Chand, Kyaw Linn, Jithangi Wanigasinghe, Mimi Lhamu Mynak, Prakash Poudel, Raili Riikonen, Amit Kumar, Pooja Dhir, Sandeep Negi, Jitendra Kumar Sahu
Department of Paediatrics and Child Health
Objectives: Considering the dearth of literature on West syndrome (WS) from South Asian countries, this study aimed to evaluate the management practices in South Asia by an online survey and meta-analysis.
Methods: An online questionnaire was sent to 223 pediatric neurologists/pediatricians in India, Pakistan, Myanmar, Sri Lanka, Bhutan, Nepal, and Bangladesh. Their responses were evaluated and supplemented by a meta-analysis.
Results: Of 125 responses received (response rate: 56%), around 60% of responders observed male preponderance and an approximate lead-time-to-treatment (LTTT) of 4-12 weeks. The commonest etiology observed was a static structural insult (88.6% of responders). Most commonly used first-line drug …