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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. We report a case of severe central nervous system toxicity in a 13-year-old boy with Hodgkin lymphoma who was treated with nivolumab following an inadequate response to multiple lines of chemotherapy. After six cycles of nivolumab, the patient developed multifocal disseminated necrotizing leukoencephalopathy, presenting with altered mental status, seizures, and neurological deficits with magnetic resonance imaging (MRI) findings of extensive white matter involvement, rendering him completely disabled. This case highlights the potential for disabling neurological complications associated with immune checkpoint inhibitors, emphasizing the importance of early detection through regular neurological assessment and MRI surveillance. The case also underscores the need for careful patient selection and monitoring when using nivolumab to mitigate the risk of severe central nervous system toxicity.

Behcet's disease is a chronic polysymptomatic systemic vasculitis disorder of unknown etiology characterized by several clinical manifestations in multiple organ systems. Involvement of the nervous system occurs in ∼9% of patients with Behcet's disease (ranging from 3 to 30%). Neuro-Behcet's disease is a great masquerader of multiple sclerosis. Diagnosing this disorder might be challenging, especially in a patient who does not fulfill the criteria of Behcet's disease while having a neurological presentation. We report a case of neuro-Behcet's disease who was misdiagnosed as having multiple sclerosis for many years and started on unnecessary disease-modifying therapy for multiple sclerosis. A thorough history, physical examination, and systematic investigations are mandatory to differentiate between these two conditions. Our case presentation raises awareness of the importance of differentiating between these two conditions since the consequences of misdiagnosis are catastrophic. The main challenges differentiating between multiple sclerosis and neuro-Behcet's are clinical and paraclinical, including neuroimaging.

The recent acceleration of commercial, private and multi-national spaceflight has created an unprecedented level of activity in low Earth orbit, concomitant with the largest-ever number of crewed missions entering space and preparations for exploration-class (lasting longer than one year) missions. Such rapid advancement into space from many new companies, countries and space-related entities has enabled a 'second space age'. This era is also poised to leverage, for the first time, modern tools and methods of molecular biology and precision medicine, thus enabling precision aerospace medicine for the crews. The applications of these biomedical technologies and algorithms are diverse, and encompass multi-omic, single-cell and spatial biology tools to investigate human and microbial responses to spaceflight. Additionally, they extend to the development of new imaging techniques, real-time cognitive assessments, physiological monitoring and personalized risk profiles tailored for astronauts. Furthermore, these technologies enable advancements in pharmacogenomics, as well as the identification of novel spaceflight biomarkers and the development of corresponding countermeasures. In this Perspective, we highlight some of the recent biomedical research from the National Aeronautics and Space Administration, Japan Aerospace Exploration Agency, European Space Agency and other space agencies, and detail the entrance of the commercial spaceflight sector (including SpaceX, Blue Origin, Axiom and Sierra Space) into aerospace medicine and space biology, the first aerospace medicine biobank, and various upcoming missions that will utilize these tools to ensure a permanent human presence beyond low Earth orbit, venturing out to other planets and moons., (© 2024. Springer Nature Limited.)

Spaceflight induces molecular, cellular and physiological shifts in astronauts and poses myriad biomedical challenges to the human body, which are becoming increasingly relevant as more humans venture into space 1-6 . Yet current frameworks for aerospace medicine are nascent and lag far behind advancements in precision medicine on Earth, underscoring the need for rapid development of space medicine databases, tools and protocols. Here we present the Space Omics and Medical Atlas (SOMA), an integrated data and sample repository for clinical, cellular and multi-omic research profiles from a diverse range of missions, including the NASA Twins Study 7 , JAXA CFE study 8,9 , SpaceX Inspiration4 crew 10-12 , Axiom and Polaris. The SOMA resource represents a more than tenfold increase in publicly available human space omics data, with matched samples available from the Cornell Aerospace Medicine Biobank. The Atlas includes extensive molecular and physiological profiles encompassing genomics, epigenomics, transcriptomics, proteomics, metabolomics and microbiome datasets, which reveal some consistent features across missions, including cytokine shifts, telomere elongation and gene expression changes, as well as mission-specific molecular responses and links to orthologous, tissue-specific mouse datasets. Leveraging the datasets, tools and resources in SOMA can help to accelerate precision aerospace medicine, bringing needed health monitoring, risk mitigation and countermeasure data for upcoming lunar, Mars and exploration-class missions., (© 2024. The Author(s).)

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 encephalitis through in-depth analyses of two contrasting cases. Corticosteroids show potential benefits to improve an exaggerated immune response and limit viral dissemination within the brain. Daily assessments and frequent neuroimaging, particularly using magnetic resonance imaging, aid in the management of fulminant cases. Although existing evidence relies on limited case series and retrospective comparisons, the results of the present study emphasize the necessity for large-scale controlled trials to establish definitive guidelines. The discretion of the treating neurologist governs the decision to implement corticosteroids, emphasizing the imperative need for continued research and evidence-based strategies for this challenging neurological condition.

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 triggered solely by laughter. Electroencephalography and neuroimaging revealed normal results. Despite declining medical therapy, lifestyle modifications enabled seizure management. The study emphasizes the dearth of data on laughter-induced seizures, prompting the consideration of multimodal strategies for treatment. Further research is imperative to unveil the precise pathophysiology and establish standardized therapeutic approaches for this uncommon epileptic manifestation., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2024 Korean Epilepsy Society.)

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) from the SpaceX Inspiration4 crew, we generated "spaceflight secretome profiles," which showed significant differences in coagulation, oxidative stress, and brain-enriched proteins. While >93% of differentially abundant proteins (DAPs) in vesicles and metabolites recovered within six months, the majority (73%) of plasma DAPs were still perturbed post-flight. Moreover, these proteomic alterations correlated better with peripheral blood mononuclear cells than whole blood, suggesting that immune cells contribute more DAPs than erythrocytes. Finally, to discern possible mechanisms leading to brain-enriched protein detection and blood-brain barrier (BBB) disruption, we examined protein changes in dissected brains of spaceflight mice, which showed increases in PECAM-1, a marker of BBB integrity. These data highlight how even short-duration spaceflight can disrupt human and murine physiology and identify spaceflight biomarkers that can guide countermeasure development., (© 2024. The Author(s).)

The SpaceX Inspiration4 mission provided a unique opportunity to study the impact of spaceflight on the human body. Biospecimen samples were collected from four crew members longitudinally before (Launch: L-92, L-44, L-3 days), during (Flight Day: FD1, FD2, FD3), and after (Return: R + 1, R + 45, R + 82, R + 194 days) spaceflight, spanning a total of 289 days across 2021-2022. The collection process included venous whole blood, capillary dried blood spot cards, saliva, urine, stool, body swabs, capsule swabs, SpaceX Dragon capsule HEPA filter, and skin biopsies. Venous whole blood was further processed to obtain aliquots of serum, plasma, extracellular vesicles and particles, and peripheral blood mononuclear cells. In total, 2,911 sample aliquots were shipped to our central lab at Weill Cornell Medicine for downstream assays and biobanking. This paper provides an overview of the extensive biospecimen collection and highlights their processing procedures and long-term biobanking techniques, facilitating future molecular tests and evaluations.As such, this study details a robust framework for obtaining and preserving high-quality human, microbial, and environmental samples for aerospace medicine in the Space Omics and Medical Atlas (SOMA) initiative, which can aid future human spaceflight and space biology experiments., (© 2024. The Author(s).)

Vacuolar protein sorting 13 homolog D (VPS13D) gene encodes a protein involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. This study reports a novel homozygous mutation (c.12494T>C p.Ile4165Thr) in the VPS13D gene in a Saudi female diagnosed with autosomal recessive spinocerebellar ataxia type 4 (SCAR4). The patient's clinical presentation, including progressive weakness, ataxia, and numbness, aligns with SCAR4 characteristics. The comprehensive evaluation, comprising neurological examination, brain MRI, and genetic testing, revealed distinctive features consistent with autosomal recessive inheritance. The genetic mutation spectrum enrichment emphasizes the intricate interplay of genetic factors in SCAR4. Although no specific treatment exists, rehabilitation and supportive therapy remain central. The identified mutation contributes valuable insights for clinical management and genetic counseling, urging the ongoing collection of VPS13D gene mutation data to explore genotype-phenotype correlations in spinocerebellar ataxias. This study underscores the importance of multidisciplinary care and lays the foundation for future research directions in understanding and treating SCAR4., Competing Interests: Conflict of interest The authors declare that they have no conflicts of interest., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Adalimumab (Humira) is a human monoclonal antibody that belongs to the tumor necrosis factor (TNF) alpha antagonist class of medications. Central Nervous System (CNS) demyelination is a rare side effect of adalimumab, and only a few cases have been reported in the literature of patients who developed multiple sclerosis or other demyelinating patterns after using adalimumab. In this report, we present a case of CNS demyelination in a patient with rheumatoid arthritis that developed a few months after using adalimumab. Performing brain MRI for asymptomatic individuals prior to initiating anti-TNF alpha agents to exclude a pre-existing demyelinating disease may be worthwhile. Routine brain MRI for monitoring and surveillance may facilitate detecting cases early and avoid the development of permanent neurological disability. Further studies are needed to clarify the neurological safety of anti-TNF alpha agents., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

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 that depends on the principles of value-based care and applying the new model of care in disease prevention, aggressive and serious steps for primary stroke prevention are expected to be implemented. This article reviews primordial and primary prevention of ischemic stroke in Saudi Arabia and suggests a combination approach and framework for implementation. We provide a pragmatic solution to implement primordial and primary stroke prevention in Saudi Arabia and specify the roles of the government, health professionals, policymakers, and the entire population. Currently, there are several key priorities for primordial and primary stroke prevention in Saudi Arabia that should target people at different levels of risk. These include an emphasis on a comprehensive approach that includes both individual and population-based strategies and establishing partnerships across health-care providers to share responsibility for developing and implementing both strategies. This is an urgent call for action to initiate different strategies suggested by experts for primary stroke prevention in Saudi Arabia., Competing Interests: There are no conflicts of interest., (Copyright: © 2024 Saudi Journal of Medicine & Medical Sciences.)

Iron is an essential element for brain cells that is required for the transport of oxygen, energy generation, myelin synthesis, and production of neurotransmitters. Disturbances in the homeostatic mechanisms of iron metabolism may cause iron accumulation with subsequent oxidative stress and cellular damage. It is important to consider the possibility of both a genetic and acquired iron overload syndrome in patients with neurological symptoms and hyperferritinemia. In this article, we are reporting a unique case characterized by hyperferritinemia with widespread deposition of iron in more than one bodily organ, movement disorder, and hidden malignancy. We stress on the importance of early diagnosis using a systematic approach since early treatment with iron chelators is warranted to prevent the progression of neurological symptoms. Even those patients who have no neurological symptoms with high iron should be monitored closely and treated early to avoid the deposition of iron in the brain. Whether brain damage and MRI changes are reversible completely or partially is a subject for further research.

Introduction Following the guidelines for maintaining quality set forth by the National Commission for Academic Accreditation and Assessment (NCAAA) accreditation procedure, Saudi higher education institutions, including health sciences colleges, must adhere to these guidelines. This study aims to assess the perception of personnel involved in NCAAA accreditation processes about the purpose, process, motivation, and level of involvement in the NCAAA accreditation at King Saud bin Abdulaziz University for Health Sciences (KSAU-HS). Methods The study was conducted at KSAU-HS, Jeddah. The participants included 15 administrators and 32 faculties from the College of Medicine, College of Applied Medical Sciences, and College of Nursing with experience in the NCAAA process. A questionnaire was used to determine how motivated and involved people feel about the accreditation process. Data were examined statistically with SPSS (Version 23; IBM Corp., Armonk, NY, USA), and descriptive statistics were used. Results Forty-seven participants (23 men, 24 women, ages 36 to 55) took part in the study, of which 68% were faculty members and 32% were administrators with a variety of skill sets from the three colleges. Most participants displayed a positive attitude toward the NCAAA accreditation's motive and level of commitment. Conclusions Most of the participants in the current study contended with the NCAAA process and deemed it substantial long-term improvements., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Al-Shareef et al.)

COVID-19 vaccinations have been given worldwide to save the lives of millions. However, several complications following different types of COVID-19 vaccinations were reported previously in the literature. Previous articles have reported multiple ocular complications following different types of COVID-19 vaccinations. In this article, we report a unique case in which the diagnosis of neuromyelitis optica spectrum disorders (NMOSD) was unveiled following vaccination with BNT162b2 mRNA COVID-19 vaccine and manifesting as acute optic neuritis in a patient with systemic lupus erythematosus (SLE). The temporal association of acute optic neuritis after receiving the BNT162b2 mRNA COVID-19 vaccine along with the serological evidence of NMOSD support this theory. The risk of triggering an occult autoimmune disorder in patients with an overactive immune system such as this patient should be studied to calibrate the benefits and risks of vaccination against COVID-19. Screening for aquaporin-4 antibodies in patients with SLE prior to vaccination against COVID-19 may be considered to prevent potentially devastating neurological disability in patients with premorbid occult NMOSD.

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 field of medicine. Many of these inventions benefit humanity in multiple ways, especially with regard to well-being. Research objectives range from the early detection of illnesses to statistical studies that help in epidemiology. Furthermore, there are potential future opportunities that might help in the development of mankind in general and Earth medicine in particular. This review presents some of the significant inventions that were made through the journey to space and elaborate on how those inventions helped develop Earth medicine and other fields., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Shirah et al.)

Leber hereditary optic neuropathy (LHON) is a rare maternally inherited mitochondrial disorder that typically affects young male adults in their second and third decades of life. It usually manifests as painless, subacute, progressive, bilateral vision loss, with more than 90% of affected individuals losing their vision before age 50. Compared with other diseases that cause optic neuritis (multiple sclerosis or neuromyelitis optica spectrum disorders), LHON has worsening visual function in the first 6-12 months of disease progression, is predominantly male, the optic nerve is affected bilaterally from onset, there is no gadolinium enhancement on MRI, no response to disease-modifying therapy, and there is a family history of mutation in mitochondrial DNA. In this article, we describe an interesting and challenging case of LHON due to a homoplasmic variant in the MT -CO3 gene that was initially misdiagnosed as a monophasic demyelinating disorder (clinically isolated syndrome vs acute disseminated encephalomyelitis vs neuromyelitis optica spectrum disorders)., Competing Interests: The authors declare that they have no conflicts of interest., (© 2023 Biomedical Informatics.)

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 puerperium as compared to the general population. The clinical diagnosis is difficult in some cases due to its variable clinical presentation with numerous causes and risk factors. The diagnosis can be made at an early stage if clinical suspicion is high with the help of advanced neuroimaging techniques that were developed recently. Early therapeutic intervention using anticoagulants allows for preventing complications and improving outcomes. In this article, we review the topic of CVST in pregnancy and the postpartum period with an emphasis on its epidemiology, pathophysiology, clinical presentation, and treatment. We also elaborate on several practical points that are important to the treating team. This review will help obstetricians, neurologists, and emergency physicians diagnose affected pregnant women as early as possible to provide prompt treatment and avoid adverse outcomes., Competing Interests: There are no conflicts of interest., (Copyright: © 2022 Brain Circulation.)

Introduction: Progressive multifocal leukoencephalopathy (PML) is a rare infection of the central nervous system due to the reactivation of the John Cunningham polyomavirus. It is commonly a progressive fatal disease with worldwide distribution., Case Report: We describe a rare case of PML, which was misdiagnosed as neuropsychiatric systemic lupus erythematosus (SLE) with a catastrophic outcome due to delay in diagnosis with superadded cyclophosphamide therapy., Conclusion: There are several lessons taught from our case. Firstly, in patients with autoimmune disorders who are strongly immunosuppressed, the new onset of cognitive impairment and seizures should alert the treating physician to look carefully for PML. Secondly, in cases of SLE where the diagnosis of the cause of cognitive impairment and seizures is not clear, we suggest that immunosuppression should not be intensified until PML has clearly been ruled out. Lastly, multidisciplinary care in patients with suspected neuropsychiatric SLE including a neurologist, an infectious diseases consultant, a neuroradiologist, and a rheumatologist is needed., Competing Interests: The authors declare no conflict of interest., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Competing Interests: This research work was funded by Institutional Fund Project (IFPRC‐013‐247‐2020). We gratefully acknowledge technical and financial support from the Ministry of Education and King Abdulaziz University, Jeddah Saudi Arabia. The authors declare that they have no conflicts of interest.

Introduction: The alarming infection rates of COVID-19 and variability in disease severity and outcome created the need for a prognostic marker to predict disease severity, prioritize services, and assist in clinical decision-making. The cycle threshold (Ct) value was hypothesized to be inversely correlated with viral load and subsequently disease severity. Therefore, it gained clinical interest and was an important topic for research. In this study, we aimed to determine the accuracy of the Ct value as a predictor of clinical severity in children presenting to the emergency department with COVID-19. Specifically, we aimed to compare the relationship between clinical severity among patients with high vs. low Ct values as well as to assess the correlation between the mean Ct value with the mean number of symptoms., Methods: This is a single-center retrospective cohort study. Data were obtained from the electronic medical record software of King Abdulaziz Medical City in Jeddah, Saudi Arabia. The present study included randomly selected COVID-19 cases aged ≥1 months to 18 years who presented to the emergency department between March 2020 and May 2021. Collected clinical data were matched with laboratory data at the time of diagnosis to examine the association between Ct values and clinical factors., Results: A total of 191 COVID-19 PCR-positive children were included with an overall mean Ct value of 11.5, a median of 10, and a highest Ct value of 25. The mean age of the patients was 95 months. More than half (51.35%) of the patients were admitted to the hospital, while 2.09% were admitted to the intensive care unit and one patient (0.52%) died. There was no significant association between Ct values and demographics or clinical characteristics of the patients., Conclusion: We demonstrated a lack of association between SARS-CoV-2 Ct value detected in nasopharyngeal swabs with disease severity, number of symptoms, oxygen requirement, intensive care unit admission, or length of hospital stay in the pediatric population presenting to the emergency department with COVID-19. This finding does not support the routine reporting of Ct values to aid clinicians in making clinical and patient-management decisions for COVID-19 patients or guide infection control or public health decisions. Further studies confirming our observations are needed., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Al-Shareef et al.)

The rostral mesencephalon may influence ocular motility in the vertical, horizontal, and torsional trajectories through intricate supranuclear, internuclear, and infranuclear neural networks. Strategic unilateral midbrain lesions may result in contralateral horizontal gaze palsy with saccadic failure due to combined interruption of supranuclear corticofugal fibers from the frontal eye field and colliculofugal fibers from the superior colliculus. In this article, we report a patient who sustained combined vertical and horizontal gaze deficits after a single infarct involving the mesodiencephalic junction. The neural substrate for each deficit is briefly discussed in light of clinical findings. This case presented a triad of three distinct syndromes of horizontal gaze paresis, vertical one-and-a-half syndrome, and pseudoabducens palsy due to damage of nuclear and supranuclear projections within the rostral mesencephalon. This combination was due to a single embolic infarct in the territory of the posterior thalamosubthalamic artery (artery of Percheron) that arises at the basilar bifurcation. Coexistence of these phenomena exemplified how rostral midbrain lesions may affect ocular motility in the vertical, horizontal, and torsional planes, along with disruption of normal vergence control.

Intellectual disability and developmental encephalopathies are mostly linked with infant epilepsy. Epileptic encephalopathy is a term that is used to define association between developmental delay and epilepsy. Mutations in the STXBP1 (Syntaxin-binding protein 1) gene have been previously reported in association with multiple severe early epileptic encephalopathies along with many neurodevelopmental disorders. Among the disorders produced due to any mutations in the STXBP1 gene is developmental and epileptic encephalopathy 4 (OMIM: 612164), is an autosomal dominant neurologic disorder categorized by the onset of tonic seizures in early infancy (usually in the first months of life). In this article, we report two Saudi families one with de novo heterozygous stop-gain mutation c.364C > T and a novel missense c. 305C > A p.Ala102Glu in exon 5 of the STXBP1 gene (OMIM: 602926) lead to development of epileptic encephalopathy 4. The variants identified in the current study broadened the genetic spectrum of STXBP1 gene related with diseases, which will help to add in the literature and benefit to the studies addressing this disease in the future., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2022 The Author(s).)

Introduction Lifestyle-related factors including dietary intake can significantly increase the chances of developing migraine. Some components of food items are thought to induce the release of vasoactive substances leading to the dilation of blood vessels, which in turn results in migraine episodes. This research aimed to assess the prevalence of migraine and examine the relation of the headache to the dietary patterns of female students and employees of King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) - Jeddah experiencing migraine attacks as well as to assess the relationship between the migraine attacks and the available dietary items served at the food outlets within the campus. Methods Two questionnaires were developed for this study. The first questionnaire was a short survey asking about the characteristics of headaches. This survey aimed to estimate the prevalence of migraine among female students and employees in KSAU-HS. Of the participants who filled the first questionnaire, those who met the International Classification of Headache Disorders (ICDH-III) criteria for migraine were given a second questionnaire to further understand the characteristics of their migraine headaches and to assess lifestyle and diet-related aggravating factors. Results The final sample size for the calculated prevalence was 410; 352 were students and 58 were faculty members. It has been found that 165 (40.24%) participants of the KSAU-HS female population met the criteria for migraine. Two (2.2%) reported an association between chocolate consumption and headaches and seven (7.8%) reported a significant association between caffeine and headaches. No specific association was perceived by the respondents between migraine attacks and the following food items: citrus fruits, pickles, cheese, and dairy products. Conclusion Our study revealed that the widespread trends for excessive consumption of coffee and caffeinated beverages at food outlets within the educational institution are occult triggers for headache attacks in a significant portion of students with migraine. The recent shift in dietary habits in our community for excessive consumption of coffee and other tyramine-rich food items has negative consequences on productivity and the economy. Our results can be conceivably extrapolated to reflect the effect of dietary habits on other streams of society, including companies, firms, schools, and workplaces that are driven by the new dietary trends., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Aladdin et al.)

Hashimoto's encephalopathy is a rare immune-mediated disorder characterized by subacute encephalopathy with elevated thyroid antibodies. Hashimoto's encephalopathy is also known as steroid-responsive encephalopathy associated with autoimmune thyroiditis. We report a rare presentation of Hashimoto's encephalopathy presenting with acute neuropsychiatric disturbances, rapidly progressive dementia, seizures, and extrapyramidal failure. Neuroimaging revealed multifocal vasculitides of major cerebral vessels that support the autoimmune vasculitic theory as the underlying pathogenesis for Hashimoto's encephalopathy. Unfortunately, permanent irreversible cerebral damage has already ensued before her presentation to our center, which rendered steroid therapy ineffective. Serological testing for Hashimoto's thyroiditis must be in the investigation of all rapidly progressive dementias as early diagnosis and timely management of autoimmune thyroiditis may salvage sizable and eloquent cerebral tissues. The rarity of the condition should not preclude the investigation of Hashimoto's disease even in the presence of normal levels of thyroid hormones. Delayed diagnosis may result in irreversibly catastrophic encephalopathy in patients who once presented with potentially curable dementia., Competing Interests: Conflict of Interest None declared., (Association for Helping Neurosurgical Sick People. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ).)

Introduction: A limited number of research studies were published to delineate the clinical pattern of myasthenia gravis in Saudi Arabia. This paper is an attempt to describe some of the clinical aspects related to this disease in two large centers from two main cities in Saudi Arabia., Methods: A retrospective multi-center observational study of patients diagnosed with myasthenia gravis was conducted. The study setting was King Abdulaziz Medical City in Jeddah and Riyadh, Saudi Arabia. The study period was 12 years, starting from January 2007 to May 2019., Results:  A total of 144 patients were included in this study (60 males and 84 females). The most common symptoms at diagnosis were ocular symptoms in 118 patients (81.9%), diplopia in 84 patients (58.3%), and/or blurred vision in 30 patients (20.8%). The majority had positive anti-acetylcholine receptor antibodies (72.2%). Pyridostigmine was the most prescribed medication for 136 patients (94.4%). Immunosuppressive medications were prescribed for 114 patients (79.2%). Around 40% of patients had exacerbations, and approximately 20% were admitted to the ICU. Thymectomy was performed for 97 patients (67.4%)., Conclusion: The present study indicates that the clinical presentation and management of myasthenia gravis remained the same in the last few years despite the introduction of new modalities of diagnosis such as the anti-muscle-specific kinase (anti-MuSK) and other autoantibodies tests. Furthermore, we observed that the number of exacerbations and ICU admission were high, which may indicate inadequate therapy. We are stressing the need for establishing specialized neuromuscular clinics with neurologists trained in neurophysiology to improve the diagnostic accuracy and outcomes for patients with myasthenia gravis., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2021, Algahtani et al.)

There are no data from Saudi Arabia about the use of botulinum toxin for migraine prevention. In this article, we aim to study the clinical profile, safety, and response to treatment with botulinum toxin injection for migraine patients. In addition, we aim to share our experience with the use of botulinum toxin modified injection protocol (5/20/100 protocol) in the management of migraine in Saudi patients. A retrospective single-center observational study was conducted at King Abdulaziz Medical City in Jeddah, Saudi Arabia. The protocol for botulinum toxin injection for migraine in our hospital consisted of injecting five muscles with a total of 20 injection sites consuming 100 units of Onabotulinumtoxin A (BOTOX ® , Allergan, Inc., Irvine, CA). A total of 30 patients were included in our study. The mean frequency of migraine days showed a significant reduction from baseline at 15.61 ± 10.92 days per month to 6.14 ± 6.16 days (9.47 days reduction) after botulinum toxin injection (39.3% reduction; paired t test = 5.177; p = 0.0001). The frequency of using abortive medications was reduced in 19 patients (63.3%). Only four patients (13.3%) achieved a headache-free status. Only three patients (10%) had adverse events from botulinum toxin injection. In conclusion, botulinum toxin is an effective, safe, and well-tolerated treatment option for the prevention of chronic migraine. Our protocol (5/20/100 protocol) may improve the safety and cost and reduce the incidence of adverse events. Patients who do not respond to our protocol may switch to the standard protocol after the failure of the first treatment session., (© 2020. Belgian Neurological Society.)

Introduction In Saudi Arabia and countries around the world, clinical health practice has been transformed by the coronavirus 2019 (COVID-19) pandemic caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). During the early days of the pandemic, it was a major challenge to care for pregnant women with laboratory-confirmed COVID-19 and their newborn infants. In this article, we share our experience in the management of newborn infants delivered to mothers with laboratory-confirmed COVID-19. Methods A prospective single-center observational study was conducted at King Abdulaziz Medical City in Jeddah, National Guard Health Affairs, Saudi Arabia. Data collection started in March 2020 and was completed in October 2020. The inclusion criteria included mothers with laboratory-confirmed COVID-19 and their newborn infants. Results A total of 45 pregnant women with polymerase chain reaction (PCR)-confirmed COVID-19 were included in the study. Their mean age was 30.23±5.92 years. The mode of delivery was spontaneous vaginal delivery in 27 women (60%), cesarean section in 15 women (33.3%), and assisted vaginal delivery in three women (6.7%). Three mothers (6.7%) required intensive care unit admission. A total of 45 babies were born and 25 were females (55.6%), 20 males (44.4%). None of the babies had specific symptoms related to COVID-19. All babies were tested negative on the two COVID-19 nasopharyngeal swabs. Babies were initially admitted to the NICU and one baby required prolonged NICU stay due to extreme prematurity (23 weeks), one baby died due to hypoxic-ischemic encephalopathy and respiratory distress syndrome, and the remaining babies were discharged home in a stable condition. Conclusion Our experience suggests that maternal outcomes are generally favorable and no difference between vaginal and cesarean delivery in the risk of virus transmission. With strict implementation of infection prevention measures, mother-to-infant transmission is very unlikely. Early bathing of the newborn infant is preferred to reduce the risk of transmission of infection to newborn infants and the hospital staff. Breastfeeding is safe if performed under strict infection prevention measures., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2021, AlQurashi et al.)

Coronavirus is a novel human pathogen causing fulminant respiratory syndrome (COVID-19). Developing an effective and reliable vaccine was emergently pursued to control the dramatic spread of the global pandemic. The standard stages for vaccine development were unprecedentedly accelerated over a few months. We report a case of new-onset refractory status epilepticus (NORSE) after receiving the first dose of the ChAdOx1 nCoV-19 vaccine. We attribute the occurrence of NORSE to the vaccine due to the temporal relationship and the lack of risk factors for epilepsy in the patient. This report adds to the literature a possible rare side effect of a COVID-19 vaccine and contributes to the extremely limited literature on potential neurological side effects of viral vector vaccines. Healthcare providers should be aware of the possibility of post-vaccination epilepsy. The patient had recurrent seizures that were refractory to conventional antiepileptic drug therapy with a dramatic response to immunotherapy with pulse steroids and plasmapheresis. This likely reflects an underlying autoimmune mechanism in the genesis of post-vaccination generalized seizures without fever. Further research is needed to probe and study the exact mechanism at a more molecular level., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Objectives Gonadal vein thrombosis is an uncommon but serious condition that can be fatal if it goes unnoticed. Up to 80% of cases occur in patients after delivery, hysterectomy, or lymphadenectomy for gynecological neoplasms. The objective of this study was to determine the incidence of gonadal vein thrombosis using computed tomography (CT) imaging at our center and to describe associated risk factors. Methods A retrospective, single-center, observational study was conducted at King Abdulaziz Medical City in Jeddah, Saudi Arabia. Data were collected for all patients diagnosed with incidental gonadal-vein-thrombosis using contrast-enhanced computed tomography imaging of the abdomen and pelvis between January 2005 and December 2017. We included all patients with incidental findings of gonadal vein thrombosis and excluded those with incomplete data. Results In total, 58/68,268 (0.08%) patients were included. Fifty-seven patients were females, and only one was male. The mean age (years) of the patients was 50.0±15.0 (range 4-87). Thirty-four patients (59%) had right gonadal vein thrombosis, 20 (34%) had thrombosis on the left side, and four (7%) had bilateral thrombosis. Nineteen patients (33%) had undergone pelvic surgery previously. Forty-four patients (76%) had a malignancy at the time of diagnosis. Forty-two patients (72%) were treated with anticoagulants after the diagnosis. Conclusion Gonadal vein thrombosis is a rare clinical entity with vague clinical presentation. The incidence in the oncology population is similar to the reported incidence in the obstetric population. Initiation of anticoagulation therapy is important to treat this condition and limit complications., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2021, Alsharif et al.)

Mills' syndrome is an extremely rare, slowly progressive, unilateral ascending or descending clinical syndrome of upper motor neuron-predominant hemiparesis. In this article, we describe a case of a middle-aged woman (initial presentation and three years follow-up) who presented with progressive ascending hemiparesis with clinically isolated upper motor neuron signs and normal sensory examination. The patient received monthly intravenous immunoglobulin (IVIG) for three years with no progression of her weakness. To our best knowledge, the response of Mills' syndrome to such an IVIG program has not been reported in the literature so far. We aim to document the clinical response to IVIG in such rare syndrome., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Interprofessional education (IPE) is now regarded as an extremely important approach in the academic field for preparing healthcare students to provide patient care in a collaborative team environment. In this study, we examine the perceptions and attitudes toward IPE in a Saudi specialized health sciences university. This study is a cross-sectional survey at King Saud bin Abdulaziz University for Health Sciences and King Abdulaziz Medical City in Jeddah, Saudi Arabia. The instruments used in this study were pre-designed self-administered questionnaires identified from the literature (The Nebraska Interprofessional Education Attitudes Scale (NIPEAS) and The Student Perceptions of Interprofessional Clinical Education-Revised (SPICE-R). A total of 668 individuals participated in the study. The majority of the participants were between the ages of 18 and 25 (79.2%) and were students (77.1%) from medicine, nursing and applied medical science. The participants' responses were primarily positive for all items of the NIPEAS and most of the items of the SPICE-R. The results of this study indicate that students and healthcare professionals have positive perceptions and readiness toward IPE, and implementation of shared learning is highly encouraged. The integration of IPE in the curriculum is recommended to improve teamwork and patient care outcomes.

Introduction: Previously published studies demonstrated that mutations in CWF19L1 cause early-onset autosomal recessive cerebellar ataxia 17. In this article, we report a novel homozygous missense variant in CWF19L1 in two sisters who had late-onset cerebellar ataxia with epilepsy and describe their clinical and neuroradiological findings., Methods: We included two female patients with typical symptoms of cerebellar ataxia supported by the MRI findings. Whole exome sequencing (WES) data analysis was performed to identify the underlying genetic defect in the proband. Sanger sequencing was used to confirm the variant in other family members., Results: WES revealed a homozygous missense variant in CWF19-like protein 1; CWF19L1 gene c.395A>G; p.(Asp132Gly) (RefSeq NM_018294.4). This variant has not been described previously in the literature. Mutations in this gene are known to cause an autosomal recessive disorder, spinocerebellar ataxia, autosomal recessive 17 (OMIM #616127)., Conclusion: In conclusion, we report a novel variant in CWF19L1 as a candidate causal variant in two sisters with autosomal recessive cerebellar ataxia. This is the first report coming from Arab countries. Additional reports in patients with a progressive course and adult-onset are needed, but this could be the first report of this disease diagnosed in adulthood since it is a disease of children and adolescents. In addition, our patients had epileptic seizures, which were not previously documented in patients with CWF19L1 mutations. We postulate that mutations in this gene have widespread functional and structural changes in multiple levels of the neuraxis rather than being a pure cerebellar disorder.

Ataxia telangiectasia is a hereditary multisystem disorder with a wide range of symptoms and signs. It is inherited in an autosomal recessive manner due to a mutation in the ataxia telangiectasia mutated ( ATM ) gene, which encodes a protein kinase with a domain related to a phosphatidylinositol 3-kinase (PI-3 kinase) proteins that respond to DNA damage by phosphorylating key substrates involved in DNA repair and/or cell cycle control. The characteristics of the disease include progressive cerebellar ataxia beginning between ages one and four years, oculomotor apraxia, choreoathetosis, telangiectasias of the conjunctiva, immunodeficiency with frequent infections, and an increased risk for malignancy. In this article, we report a novel homozygous missense variant c.1516G > T, p.(Gly506Cys) in the ATM gene causing ataxia telangiectasia in a Saudi female. This variant led to the development of a later onset disease (at the age of 14 years) and the classical neurodegenerative process both clinically and on imaging. However, no immune system dysfunction or endocrine abnormalities were present. This is the second novel mutation in this gene so far reported from Saudi Arabia. The novel mutation described in the present study widened the genetic spectrum of ATM -associated diseases, which will benefit studies addressing this disease in the future.

Background: Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune astrocytopathy that affects several regions of the central nervous system (CNS) with a predilection for the optic nerves and spinal cord. Epidemiological studies of NMOSD are uncommon in the Middle East and up-to-date, there are no such data from Saudi Arabia. In this study, we aim to study the clinical pattern of NMOSD patients in Saudi Arabia., Methods: A retrospective multi-center observational study was conducted at King Abdulaziz Medical City in Jeddah and Riyadh, Saudi Arabia. The inclusion criteria consisted of all the patients with either neuromyelitis optica according to the 2006 criteria or NMOSD according to the 2015 criteria. The study period was 20 years., Results: A total of 23 patients were included in the study. Four were males (17.4%) and 19 were females (82.6%). The attack type was optic neuritis in 3 patients (13.0%), transverse myelitis in 15 patients (65.2%), and both in 5 patients (21.7%). All patients (100%) received pulse steroid therapy (intravenous methylprednisolone 1 g for 5 days) at the onset of the disease. Fifteen patients had plasma exchange therapy (65.2%). All patients received maintenance immunosuppressive treatment except 1 (4.3%)., Conclusion: NMOSD is a rare, broad-spectrum, polyphasic, rare disorder primarily affecting the optic pathway and the spinal cord either in isolation or simultaneously. Unfortunately, there are no adequate studies that assess NMOSD cohorts in Saudi Arabia despite the increased number of diagnosed cases. In addition, there is no registry for this disorder with only a few specialized centers dealing with its management. It is time to establish specialized demyelinating disease centers and build expertise in both common and rare diseases in this category., (Copyright © 2020. Published by Elsevier B.V.)

Objective: Congenital hypothyroidism (CH) is a common cause of preventable severe neurocognitive impairment in children. Previously conducted studies describing the natural history of CH in Saudi Arabia were either of shorter duration or a limited number of patients. In this study, we aim to assess our experience in the clinical course and therapeutic outcome of CH in two large tertiary centers in Saudi Arabia., Methods: This is a retrospective chart review of patients <18 years of age diagnosed with CH at King Abdulaziz Medical City in Jeddah and Riyadh, Saudi Arabia, between 2000 and 2018. Data were collected from the patients' medical records, including epidemiological, clinical, laboratory, and radiological features as well as a long-term outcome of CH. Statistical analysis was carried out using the JMP statistical software. This study was approved by the Institutional Review Board (IRB) at King Abdullah International Medical Research Center (KAIMRC)., Results: Out of the 71 cases, 53.5% were female, and 80.3% of these cases were diagnosed in the 1 st week of life. The estimated incidence of CH is 1:2470 in the two study centers. Ectopic thyroid (43%, n = 25/58), dyshormonogenesis (34.5%, n = 20/58), and thyroid agenesis and hypoplasia (22.4%, n = 13/58). Learning difficulty was significantly associated with delayed treatment onset ( P = 0.044) and lower compliance with treatment ( P = 0.001)., Conclusion: In our study, the incidence of dyshormonogenesis in CH is higher than international rates (34.5% vs. 20%), possibly because of consanguinity. Effective neonatal screening program facilitates early diagnosis that leads to prompt management of CH and avoidance of long-term outcome of neurocognitive impairment., (Copyright: © International Journal of Health Sciences.)