Bader Shirah
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View article: Communicating Neurological Bad News: An Essential Skill for Neurologists and a Fundamental Medical Education Core Competency
Communicating Neurological Bad News: An Essential Skill for Neurologists and a Fundamental Medical Education Core Competency Open
The effective communication of bad news in neurology is a critical and delicate process that profoundly influences patient experiences and outcomes. This comprehensive discussion emphasizes the importance of thorough preparation, appropria…
View article: Neuromyelitis Optica Spectrum Disorders Mimicking Wernicke’s Encephalopathy: A Difficult Differential Diagnosis
Neuromyelitis Optica Spectrum Disorders Mimicking Wernicke’s Encephalopathy: A Difficult Differential Diagnosis Open
Neuromyelitis optica spectrum disorders (NMOSD) encompass a spectrum of immunomediated diseases presenting with diverse syndromes. Conversely, Wernicke’s encephalopathy denotes an acute neurological condition stemming from severe thiamine …
View article: Multifocal disseminated necrotizing leukoencephalopathy as severe central nervous system toxicity from nivolumab therapy for Hodgkin lymphoma: a case report
Multifocal disseminated necrotizing leukoencephalopathy as severe central nervous system toxicity from nivolumab therapy for Hodgkin lymphoma: a case report Open
Nivolumab, a monoclonal antibody approved in 2014 as an immune checkpoint inhibitor, offers benefits in cancer treatment but can cause serious neurological complications, including multifocal disseminated necrotizing leukoencephalopathy. W…
View article: Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in the PMPCA Gene causing Autosomal Recessive Spinocerebellar Ataxia
Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in the PMPCA Gene causing Autosomal Recessive Spinocerebellar Ataxia Open
Background & Objective: Autosomal recessive cerebellar ataxias (ARCA) are rare heterogenous neurodegenerative disorders characterized by degeneration of the cerebellum and spinal cord with an early onset before the age of 20 years. PMPCA (…
View article: Perception of Neurologists on Intraoperative Neurophysiological Monitoring in Saudi Arabia
Perception of Neurologists on Intraoperative Neurophysiological Monitoring in Saudi Arabia Open
Objective: Intraoperative neurophysiological monitoring (IONM) has the advantage of minimizing intraoperative neurological injury and limiting serious postoperative complications. No previous studies have evaluated the importance of IONM, …
View article: Insights into adjunctive corticosteroid therapy in fulminant herpes simplex virus encephalitis: case analysis with contrasting outcomes
Insights into adjunctive corticosteroid therapy in fulminant herpes simplex virus encephalitis: case analysis with contrasting outcomes Open
Herpes simplex virus (HSV) encephalitis, predominantly caused by HSV-1, presents with significant morbidity and mortality challenges. This research investigates the particular role of adjunctive corticosteroid therapy in fulminant HSV ence…
View article: Laughter-Induced Seizures: A Rare Type of Reflex Epilepsy
Laughter-Induced Seizures: A Rare Type of Reflex Epilepsy Open
This research explores the rare occurrence of laughter-induced seizures, a form of reflex epilepsy documented in only one previous case in the literature. The patient, free from prior medical or neuropsychiatric history, exhibited seizures…
View article: A second space age spanning omics, platforms and medicine across orbits
A second space age spanning omics, platforms and medicine across orbits Open
View article: Secretome profiling reveals acute changes in oxidative stress, brain homeostasis, and coagulation following short-duration spaceflight
Secretome profiling reveals acute changes in oxidative stress, brain homeostasis, and coagulation following short-duration spaceflight Open
As spaceflight becomes more common with commercial crews, blood-based measures of crew health can guide both astronaut biomedicine and countermeasures. By profiling plasma proteins, metabolites, and extracellular vesicles/particles (EVPs) …
View article: Collection of biospecimens from the inspiration4 mission establishes the standards for the space omics and medical atlas (SOMA)
Collection of biospecimens from the inspiration4 mission establishes the standards for the space omics and medical atlas (SOMA) Open
View article: Whole exome sequencing of a novel homozygous missense variant in <i>PALB2</i> gene leading to Fanconi anaemia complementation group
Whole exome sequencing of a novel homozygous missense variant in <i>PALB2</i> gene leading to Fanconi anaemia complementation group Open
Partner and localiser of BRCA2 (PALB2), also known as FANCN, is a key tumour suppressor gene in maintaining genome integrity. Monoallelic mutations of PALB2 are associated with breast and overian cancers, while bi-alle…
View article: Primordial and Primary Prevention of Ischemic Stroke in Saudi Arabia: A Combination Approach and Evolving Concepts
Primordial and Primary Prevention of Ischemic Stroke in Saudi Arabia: A Combination Approach and Evolving Concepts Open
Ischemic stroke is a considerable public health hazard and a significant cause of disability and mortality in Saudi Arabia. Primary prevention strategies in the country are currently limited. With the health sector transformation program t…
View article: Clinical and Molecular Characteristics of A Novel Homozygous DNAJC3 Gene Variant in a Saudi family
Clinical and Molecular Characteristics of A Novel Homozygous DNAJC3 Gene Variant in a Saudi family Open
Combined cerebellar and peripheral ataxia with hearing loss and diabetes mellitus is an extremely rare neurodegenerative disorder affecting the central and peripheral nervous systems. The pathogenesis of widespread neurodegeneration in pre…
View article: Whole Exome Sequencing Reveals Two Novel Homozygous Variants in the TRAPPC9 and PLOD3 Genes Leading to Intellectual Disability and Bone Fragility with Contractures
Whole Exome Sequencing Reveals Two Novel Homozygous Variants in the TRAPPC9 and PLOD3 Genes Leading to Intellectual Disability and Bone Fragility with Contractures Open
Salt and Pepper’ syndrome is an autosomal recessive condition characterized by severe intellectual disability (ID), epilepsy, scoliosis, choreoathetosis, dysmorphic facial features, and altered dermal pigmentation. IDs are heterogeneous gr…
View article: Perception of the Accreditation of the National Commission for Academic Accreditation and Assessment at Different Health Colleges in Jeddah, Saudi Arabia
Perception of the Accreditation of the National Commission for Academic Accreditation and Assessment at Different Health Colleges in Jeddah, Saudi Arabia Open
View article: Cerebral Radiation-Induced Vasculopathy Mimicking Primary Central Nervous System Vasculitis
Cerebral Radiation-Induced Vasculopathy Mimicking Primary Central Nervous System Vasculitis Open
Cranial irradiation is one of the main treatment modalities for tumors of the CNS. However, it can lead to significant damage to the treated region. Among the late complications of radiation therapy to the brain is vasculopathy of the smal…
View article: Half-dose ocrelizumab in selected patients with relapsing–remitting multiple sclerosis
Half-dose ocrelizumab in selected patients with relapsing–remitting multiple sclerosis Open
View article: Benefits of Space Medicine Research for Healthcare on Earth
Benefits of Space Medicine Research for Healthcare on Earth Open
Space research has brought various discoveries and benefits in the fields of health, transportation, safety measures, industry, and many more. Additionally, space research has provided a large number of discoveries and inventions in the fi…
View article: Collection of Biospecimens from the Inspiration4 Mission Establishes the Standards for the Space Omics and Medical Atlas (SOMA)
Collection of Biospecimens from the Inspiration4 Mission Establishes the Standards for the Space Omics and Medical Atlas (SOMA) Open
The SpaceX Inspiration4 mission provided a unique opportunity to study the impact of spaceflight on the human body. Biospecimen samples were collected from the crew at different stages of the mission, including before (L-92, L-44, L-3 days…
View article: Collection of Biospecimens from the Inspiration4 Mission Establishes the Standards for the Space Omics and Medical Atlas (SOMA)
Collection of Biospecimens from the Inspiration4 Mission Establishes the Standards for the Space Omics and Medical Atlas (SOMA) Open
The SpaceX Inspiration4 mission provided a unique opportunity to study the impact of spaceflight on the human body. Biospecimen samples were collected from the crew at different stages of the mission, including before (L-92, L-44, L-3 days…
View article: Phenotypic Classification of Eye Colour and Developmental Validation of the Irisplex System on Population Living in Malakand Division, Pakistan
Phenotypic Classification of Eye Colour and Developmental Validation of the Irisplex System on Population Living in Malakand Division, Pakistan Open
The core objective of forensic DNA typing is developing DNA profiles from biological evidence for personal identification. The present study was designed to check the validation of the IrisPlex system and the Prevalence of eye colour in th…
View article: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Atypical clinical presentation with isolated frontotemporal dementia
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Atypical clinical presentation with isolated frontotemporal dementia Open
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary syndrome caused by heterozygous mutations in the NOTCH3 gene that manifests in adulthood and is characterized by recurrent…
View article: Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, ST3GAL5 Gene in a Saudi Family Causing Salt and Pepper Syndrome
Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, ST3GAL5 Gene in a Saudi Family Causing Salt and Pepper Syndrome Open
Salt and pepper developmental regression syndrome (SPDRS) is an autosomal recessive disorder characterized by epilepsy, profound intellectual disability, choreoathetosis, scoliosis, and dermal pigmentation along with dysmorphic facial feat…
View article: A Novel Homozygous Abnormal Splice Variant in the Myoferlin Gene Leading to Floppy Infant Syndrome in a Saudi Family
A Novel Homozygous Abnormal Splice Variant in the Myoferlin Gene Leading to Floppy Infant Syndrome in a Saudi Family Open
Myoferlin (MYOF) (OMIM#604603) is a type II membrane protein that belongs to the ferlin family, which is expressed in cardiac and skeletal muscles. This protein has seven C2 domains that mediate calcium-dependent membrane fusion events and…
View article: Cerebral venous sinus thrombosis in pregnancy and puerperium
Cerebral venous sinus thrombosis in pregnancy and puerperium Open
Cerebral venous sinus thrombosis (CVST) is a distinct neurological emergency caused by occlusion, either partial or complete, of the dural venous sinus and/or the cerebral veins. It occurs more frequently in women during pregnancy and puer…
View article: Adult-Onset Hereditary Spastic Paraplegia 15 in a Saudi Patient with A Compound Heterozygous Variant in the
Adult-Onset Hereditary Spastic Paraplegia 15 in a Saudi Patient with A Compound Heterozygous Variant in the Open
Hereditary spastic paraplegia (HSP) 15 is an autosomal recessive neurodegenerative disease caused by homozygous or heterozygous point mutations in the ZFYVE26 gene that encodes the spastizin protein, located on chromosome 14q22-q24.…
View article: Cerebral fat embolism syndrome: diagnostic challenges and catastrophic outcomes: a case series
Cerebral fat embolism syndrome: diagnostic challenges and catastrophic outcomes: a case series Open
Fat embolism syndrome is a rare but alarming, life-threatening clinical condition attributed to fat emboli entering the circulation. It usually occurs as a complication of long-bone fractures and joint reconstruction surgery. Neurological …
View article: Cycle Threshold Value as a Predictor of Severity and Intensive Care Unit Admission for Children Presenting to the Emergency Department With COVID-19: A Single-Center Experience From Saudi Arabia
Cycle Threshold Value as a Predictor of Severity and Intensive Care Unit Admission for Children Presenting to the Emergency Department With COVID-19: A Single-Center Experience From Saudi Arabia Open
View article: Epilepsy and Hearing Loss in a Patient with a Rare Heterozygous Variant in the CACNA1H Gene
Epilepsy and Hearing Loss in a Patient with a Rare Heterozygous Variant in the CACNA1H Gene Open
The calcium voltage-gated channel subunit alpha 1 H (CACNA1H) is a gene present in eukaryotic cells located on chromosome 16 that encodes the T-type calcium channels, which are important for calcium influx and depolarization of cells. Path…