Publications by authors named "Edward J Cupler"

12 Publications

  • Page 1 of 1

Managing multiple sclerosis in the Covid19 era: a review of the literature and consensus report from a panel of experts in Saudi Arabia.

Mult Scler Relat Disord 2021 Mar 25;51:102925. Epub 2021 Mar 25.

Itkan Health Consulting, Riyadh, Saudi Arabia.

Disease-modifying therapies (DMT) for relapsing-remitting MS (RRMS) act on the immune system, suggesting a need for caution during the SARS-CoV2/Covid-19 pandemic. A group of experts in MS care from Saudi Arabia convened to consider the impact of Covid-19 on MS care in that country, and to develop consensus recommendations on the current application of DMT therapy. Covid-19 has led to disruption to the care of MS in Saudi Arabia as elsewhere. The Expert Panel considered a DMT's overall tolerability/safety profile to be the most important consideration on whether or not to prescribe at this time. Treatment can be started or continued with interferon beta, teriflunomide, dimethyl fumarate, or natalizumab, as these DMTs are not associated with increased risk of infection (there was no consensus on the initiation of other DMTs). A consensus also supported continuing treatment regimens with fingolimod (or siponimod) and cladribine tablets for a patient without active Covid-19. No DMT should be imitated in a patient with active Covid-19, and (only) interferon beta could be continued in the case of Covid-19 infection. Vaccination against Covid-19 is a therapeutic priority for people with MS. New treatment should be delayed for 2-4 weeks for vaccination. Where treatment is already ongoing, vaccination against Covid-19 should be administered immediately without disruption of treatment (first-line DMTs, natalizumab, fingolimod), when lymphocytes have recovered sufficiently (cladribine tablets, alemtuzumab) or 4 months after the last dose (ocrelizumab). These recommendations will need to be refined and updated as new clinical evidence in this area emerges.
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http://dx.doi.org/10.1016/j.msard.2021.102925DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7992311PMC
March 2021

Family Planning for People with Multiple Sclerosis in Saudi Arabia: an Expert Consensus.

Mult Scler Int 2021 15;2021:6667006. Epub 2021 Feb 15.

Clinical and Biological Sciences Department, University of Torino, Orbassano, Italy.

More than half of all patients with multiple sclerosis (MS) in the Kingdom of Saudi Arabia (KSA) are women of childbearing age. Raising a family is an important life goal for women in our region of the world. However, fears and misconceptions about the clinical course of relapsing-remitting MS (RRMS) and the effects of disease-modifying drugs (DMDs) on the foetus have led many women to reduce their expectations of raising a family, sometimes even to the point of avoiding pregnancy altogether. The increase in the number of DMDs available to manage RRMS and recent studies on their effects in pregnancy have broadened management options for these women. Interferon beta now has an indication in Europe for use during pregnancy (according to clinical need) and can be used during breastfeeding. Glatiramer acetate is a further possible option for women with lower levels of RRMS disease activity who are, or about to become, pregnant; natalizumab may be used up to 30 weeks in patients with higher levels of disease activity. Where possible, physicians need to support and encourage women to pursue their dream of a fulfilling family life, supported where necessary by active interventions for RRMS that are increasingly evidence based.
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http://dx.doi.org/10.1155/2021/6667006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7899766PMC
February 2021

Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.

Parkinsonism Relat Disord 2019 07 28;64:145-149. Epub 2019 Feb 28.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Department of Biomedical Research, King Fahad Specialist Hospital, Dammam, Saudi Arabia.

Introduction: ADCY5-related hyperkinesia encompasses a heterogeneous group of phenotypes, including paroxysmal chorea, myoclonus, and dystonia. The disease is attributed to mutations of ADCY5, which encodes an adenylate cyclase enzyme. The disease can occur in a sporadic or familial pattern. With exception of one study, all reports on familial ADCY5-related hyperkinesia were associated with an autosomal dominant inheritance. Herein, we describe a native Arabian Bedouin family with an autosomal recessive ADCY5-related disorder and expand the genotypic and phenotypic spectrum of this disorder.

Methods: The pedigree included 4 generations of a family with 6 affected individuals. The patients were examined clinically and radiologically. Homozygosity mapping and Whole Exome Sequencing (WES) were used to identify a variant, predicted to be pathogenic, which segregated with disease in this family.

Results: All patients presented with early-onset dystonia and myoclonus. The patients had delayed motor and language milestones, axial hypotonia, severe anxiety, social phobia, and isolation. One patient had dilated cardiomyopathy. WES of one affected individual revealed a novel homozygous missense mutation (c.1762G > A, p.D588N) of ADCY5, that segregated with disease in an autosomal recessive manner, and was absent in more than 1000 ethnically-matched chromosomes. The mutation replaces a highly conserved nucleotide and is predicted to be deleterious.

Conclusion: This study reports the second family with autosomal recessive childhood-onset ADCY5-related disorder and expands our understanding of phenotype/genotype correlations of this disorder.
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http://dx.doi.org/10.1016/j.parkreldis.2019.02.039DOI Listing
July 2019

Non-convulsive seizures and electroencephalography findings as predictors of clinical outcomes at a tertiary intensive care unit in Saudi Arabia.

Clin Neurol Neurosurg 2018 08 5;171:95-99. Epub 2018 Jun 5.

Division of Neurology, Department of Internal Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia. Electronic address:

Objective: Electroencephalography (EEG) in the intensive care unit (ICU) is often done to detect non-convulsive seizures (NCS). The outcome of ICU patients with NCS strongly depends on the underlying etiology. The implication of NCS and other EEG findings on clinical outcome independent from their etiology is not well understood and our aim to investigate it.

Patients And Methods: We retrospectively identified all adult patients in the ICU who underwent EEG monitoring between January 2008 and December 2011. The main goals were to define the rate of NCS or non-convulsive status epilepticus (NCSE) occurrence in our center among patients who underwent EEG monitoring and to examine if NCS/NCSE are associated with poor outcome [defined as death or dependence] with and without adjustment for underlying etiology. The rate of poor outcome among different EEG categories were also investigated.

Results: During the study period, 177 patients underwent EEG monitoring in our ICU. The overall outcome was poor in 62.7% of those undergoing EEG. The rate of occurrence of NCS/NCSE was 8.5% and was associated with poor outcome in 86.7% with an odds ratio (OR) of 5.1 (95% confidence interval [CI] 1.09-23.8). This association was maintained after adjusting for underlying etiologies with OR 5.6 (95% CI 1.05-29.6). The rate of poor outcome was high in the presence of periodic discharges and sharp and slow waves of 75% and 61.5%, respectively.

Conclusions: Our cohort of ICU patients undergoing EEGs had a poor outcome. Those who developed NCS/NCSE experienced an even worse outcome regardless of the underlying etiology.
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http://dx.doi.org/10.1016/j.clineuro.2018.06.002DOI Listing
August 2018

Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.

BMC Neurol 2015 Oct 15;15:205. Epub 2015 Oct 15.

Pediatric Neurology Research Center, Mofid Children Hospital, Shahid Beheshti Medical University (SBMU), Shariati Avenue, Tehran, 15468-155514, Iran.

Background: Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms.

Methods: An expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease for the MENA region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities.

Results: These guidelines set out practical recommendations and include algorithms for the diagnosis and treatment of late-onset Pompe disease. They detail the ideal diagnostic workup, indicate the patients in whom enzyme replacement therapy should be initiated, and provide guidance on appropriate patient monitoring.

Conclusions: These guidelines will serve to increase awareness of the condition, optimize patient diagnosis and treatment, reduce disease burden, and improve patient outcomes.
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http://dx.doi.org/10.1186/s12883-015-0412-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608291PMC
October 2015

Consensus treatment recommendations for late-onset Pompe disease.

Muscle Nerve 2012 Mar 15;45(3):319-33. Epub 2011 Dec 15.

Department of Neurology, Oregon Health & Science University, Portland, Oregon, USA.

Introduction: Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous clinical presentation that mimics other neuromuscular disorders.

Methods: Objective is to propose consensus-based treatment and management recommendations for late-onset Pompe disease.

Methods: A systematic review of the literature by a panel of specialists with expertise in Pompe disease was undertaken.

Conclusions: A multidisciplinary team should be involved to properly treat the pulmonary, neuromuscular, orthopedic, and gastrointestinal elements of late-onset Pompe disease. Presymptomatic patients with subtle objective signs of Pompe disease (and patients symptomatic at diagnosis) should begin treatment with enzyme replacement therapy (ERT) immediately; presymptomatic patients without symptoms or signs should be observed without use of ERT. After 1 year of ERT, patients' condition should be reevaluated to determine whether ERT should be continued.
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http://dx.doi.org/10.1002/mus.22329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3534745PMC
March 2012

Congenital absence of gluteal muscles, optic nerve hypoplasia, and central nervous system hamartomas.

Clin Dysmorphol 2012 Apr;21(2):106-8

Department of Neurology, Oregon Health and Science University, Portland, Oregon 97239, USA.

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http://dx.doi.org/10.1097/MCD.0b013e32834e7fb9DOI Listing
April 2012

Anterior interosseous nerve syndrome following peripheral catheterization: magnetic resonance imaging and electromyography correlation.

Muscle Nerve 2011 May;43(5):758-60

Department of Neurology, Oregon Health & Science University, 3181 SW Sam Jackson Park Road CR120, Portland, Oregon 97239, USA.

Anterior interosseous nerve syndrome (AINS) has not been widely recognized as a possible complication following peripheral catheterization. Herein we present a retrospective review of patients with AINS over the last 5 years. Six cases were identified, 4 associated with catheterization. AINS may be a rare complication of catheterization. Magnetic resonance imaging (MRI) may serve as an adjunct diagnostic modality to conventional electromyography (EMG) and nerve conduction studies, especially in patients who are intolerant of pain.
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http://dx.doi.org/10.1002/mus.22022DOI Listing
May 2011

Prolonged improvement after rituximab: two cases of resistant muscle-specific receptor tyrosine kinase + myasthenia gravis.

J Clin Neuromuscul Dis 2010 Dec;12(2):85-7

Department of Neurology, Oregon Health & Science University, Portland, OR 97239, USA.

Forty percent to 50% of acetylcholine receptor antibody-seronegative patients with myasthenia gravis have muscle-specific receptor tyrosine kinase antibodies. Many muscle-specific receptor tyrosine kinase + myasthenia gravis patients remain refractory with conventional therapies. Rituximab is an anti-CD20 monoclonal antibody used in refractory B-cell disorders. Currently there is no standard dosing schedule for rituximab. We present two muscle-specific receptor tyrosine kinase + myasthenia gravis patients clinically refractory to conventional therapy who, after a single course of rituximab, became asymptomatic and discontinued all medication.
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http://dx.doi.org/10.1097/CND.0b013e3181fcc109DOI Listing
December 2010

Nephrogenic systemic fibrosis presenting as myopathy: a case report with histopathologic correlation.

Neuromuscul Disord 2010 Jun 11;20(6):411-3. Epub 2010 May 11.

Department of Neurology, Oregon Health & Science University, Portland, OR, USA.

Nephrogenic systemic fibrosis is primarily a skin disorder associated with renal insufficiency and exposure to gadolinium-containing (GAD+) contrast. We present the case of a 64-year-old man who was exposed to gadolinium while in acute renal failure, and months later developed limb stiffness, proximal weakness, and woody muscle texture. Muscle biopsy demonstrated chronic non-inflammatory fibrosing myopathy. CD34+ fibroblasts have previously been reported to be specific for nephrogenic systemic fibrosis dermopathy, and we found these in fibrotic areas of muscle and fascia. Nephrogenic systemic fibrosis is an emerging disorder, and our case highlights that it may present as a progressive myopathy with minimal skin findings.
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http://dx.doi.org/10.1016/j.nmd.2010.04.001DOI Listing
June 2010

Macrophagic myofasciitis in children is a localized reaction to vaccination.

J Child Neurol 2008 Jun 15;23(6):614-9. Epub 2008 Feb 15.

Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Macrophagic myofasciitis is a novel, "inflammatory myopathy" described after a variety of vaccinations, almost exclusively in adults. We examined the relevance of histological findings of this myopathy to the clinical presentation in pediatric patients. Muscle biopsies from 8 children (7 months to 6 years old) with histological features of macrophagic myofasciitis were reviewed and correlated with the clinical manifestations. Patients underwent quadriceps muscle biopsy for suspected mitochondrial disease (4 patients), spinal muscular atrophy (2 patients), myoglobinuria (1 patient), and hypotonia with motor delay (1 patient). All biopsies showed identical granulomas composed of periodic acid-Schiff-positive and CD68-positive macrophages. Characteristic aluminum hydroxide crystals were identified by electron microscopy in 2 cases. The biopsy established diagnoses other than macrophagic myofasciitis in 5 patients: spinal muscular atrophy (2), Duchenne muscular dystrophy (1), phospho-glycerate kinase deficiency (1), and cytochrome c oxidase deficiency (1). Three children with manifestations and/or a family history of mitochondrial disease had otherwise morphologically normal muscle. All children had routine vaccinations between 2 months and 1 year before the biopsy, with up to 11 intramuscular injections, including the biopsy sites. There was no correlation between histological findings of macrophagic myofasciitis in biopsies and the clinical symptoms. We believe that macrophagic myofasciitis represents a localized histological hallmark of previous immunization with the aluminum hydroxide adjuvants contained in vaccines, rather than a primary or distinct inflammatory muscle disease.
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http://dx.doi.org/10.1177/0883073807312370DOI Listing
June 2008

Miliary tuberculomas of the brain: case report.

Clin Neurol Neurosurg 2006 Jun;108(4):411-4

Division of Neurosurgery, Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, MBC-76, P.O. Box 3354, Riyadh 11211, Saudi Arabia.

Tuberculosis (TB) of the central nervous system (CNS) is still prevalent in many developing countries. Tuberculoma is always considered in the differential diagnosis of enhancing intra-axial lesions of the brain. Brain tuberculomas can present in many different clinical and radiological patterns, disseminated or miliary brain tuberculomas are very rare. We describe the case of a 25-year-old immunocompetent female with miliary brain tuberculomas. She presented with a history of progressive headache and unsteady gait. Serial Magnetic resonance imaging (MRI) studies revealed growing, multiple small enhancing lesions in the brain, most lesions measured approximately 2mm in diameter, in both the supratentorial and infratentorial compartments. Her investigation failed to reveal any evidence of TB outside the CNS. Open biopsy revealed multiple caseating granulomas and mycobacterin tuberculosis was cultured. She improved clinically and radiologically after starting anti-tuberculous pharmacotherapy. The clinical course, radiological images and pathological studies of this patient are presented. In conclusion miliary brain tuberculomas are rare and unique clinical and radiological entity. It may affect immunocompetent individuals with no other signs of other systemic involvement.
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http://dx.doi.org/10.1016/j.clineuro.2005.01.003DOI Listing
June 2006