Mark Gorman
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View article: Epigenetic age and telomere length correlations in pediatric-onset multiple sclerosis
Epigenetic age and telomere length correlations in pediatric-onset multiple sclerosis Open
Background: Age is the strongest factor determining disease expression in multiple sclerosis (MS). We previously demonstrated biological age acceleration in pediatric-onset MS (POMS) compared to controls with both epigenetic clocks (DNAm) …
View article: Real‐World Effectiveness of Switching to Oral or Infusion Versus Injectable Disease‐Modifying Therapy in Pediatric Multiple Sclerosis
Real‐World Effectiveness of Switching to Oral or Infusion Versus Injectable Disease‐Modifying Therapy in Pediatric Multiple Sclerosis Open
Objective To assess real‐world effectiveness of switching disease‐modifying therapy (DMT) in pediatric multiple sclerosis (MS) and clinically isolated syndrome (CIS) initially treated with platform injectables on disease activity. Methods …
View article: Health Monitoring and Drift Detection of Bearing Using Direct Density Ratio Estimation
Health Monitoring and Drift Detection of Bearing Using Direct Density Ratio Estimation Open
Prognostics and health management (PHM) has been widely employed for condition monitoring, fault diagnosis and failure prediction in mechanical systems. However, the presence of uncertainty and transient fluctuations in condition monitorin…
View article: Allele-specific vitamin D receptor binding is associated with pediatric-onset multiple sclerosis
Allele-specific vitamin D receptor binding is associated with pediatric-onset multiple sclerosis Open
Background and Objectives The genetic basis of adult-onset multiple sclerosis (MS) is well-studied, but less is known about pediatric-onset MS (pedMS), comprising approximately 5% of all MS onsets. Mendelian randomization (MR) studies have…
View article: Association Between Sun Exposure and Risk of Relapse in Pediatric-Onset Multiple Sclerosis
Association Between Sun Exposure and Risk of Relapse in Pediatric-Onset Multiple Sclerosis Open
In this large cohort study of children with MS, greater early childhood and prenatal sun exposure time was associated with lower risk of relapse. Further investigation of sun exposure at other periods is needed to better characterize its i…
View article: Two-Step Framework for Predictive Maintenance of Cryogenic Pumps in Semiconductor Manufacturing
Two-Step Framework for Predictive Maintenance of Cryogenic Pumps in Semiconductor Manufacturing Open
Semiconductor manufacturing involves many critical steps, wherein maintaining an ultra-high vacuum is mandatory. To this end, cryogenic pumps are used to create a controlled ultra-low-pressure environment through the use of cryogenic cooli…
View article: Using Quality Improvement to Design and Evaluate an Outpatient Day Treatment Pathway for Pediatric Patients with Diabetes Mellitus Requiring Insulin Initiation
Using Quality Improvement to Design and Evaluate an Outpatient Day Treatment Pathway for Pediatric Patients with Diabetes Mellitus Requiring Insulin Initiation Open
Introduction: Education and management of children with new-onset or established diabetes mellitus (DM) requiring insulin initiation do not always require hospitalization. We developed a pathway for outpatient day treatment of select patie…
View article: Early Adversity and Socioeconomic Factors in Pediatric Multiple Sclerosis
Early Adversity and Socioeconomic Factors in Pediatric Multiple Sclerosis Open
Low socioeconomic status at the neighborhood level may increase the risk of POMS while high parental education may be protective against POMS. Although we did not find associations of other evaluated prenatal or postnatal adversities with …
View article: Association of nutritional intake with clinical and imaging activity in pediatric multiple sclerosis
Association of nutritional intake with clinical and imaging activity in pediatric multiple sclerosis Open
Background: Understanding nutrition’s role in multiple sclerosis (MS) can guide recommendations and intervention-based studies. Objective: Evaluate the association between nutrition and pediatric-onset MS outcomes. Methods: Prospective lon…
View article: Gene–environment interactions: Epstein–Barr virus infection and risk of pediatric-onset multiple sclerosis
Gene–environment interactions: Epstein–Barr virus infection and risk of pediatric-onset multiple sclerosis Open
Background and Objective: Prior Epstein–Barr virus (EBV) infection is associated with an increased risk of pediatric-onset multiple sclerosis (POMS) and adult-onset multiple sclerosis (MS). It has been challenging to elucidate the biologic…
View article: Multiomic Analysis of Neuroinflammation and Occult Infection in Sudden Infant Death Syndrome
Multiomic Analysis of Neuroinflammation and Occult Infection in Sudden Infant Death Syndrome Open
Importance Antemortem infection is a risk factor for sudden infant death syndrome (SIDS)—the leading postneonatal cause of infant mortality in the developed world. Manifestations of infection and inflammation are not always apparent in cli…
View article: Short‐chain fatty acid producers in the gut are associated with pediatric multiple sclerosis onset
Short‐chain fatty acid producers in the gut are associated with pediatric multiple sclerosis onset Open
Objective The relationship between multiple sclerosis and the gut microbiome has been supported by animal models in which commensal microbes are required for the development of experimental autoimmune encephalomyelitis. However, observatio…
View article: PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants Open
View article: Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy Open
Importance Genomic advances inform our understanding of epilepsy and can be translated to patients as precision diagnoses that influence clinical treatment, prognosis, and counseling. Objective To delineate the genetic landscape of pediatr…
View article: Characteristics of pediatric patients with multiple sclerosis and related disorders infected with SARS-CoV-2
Characteristics of pediatric patients with multiple sclerosis and related disorders infected with SARS-CoV-2 Open
Background: Pediatric patients with multiple sclerosis (POMS) and related disorders, clinically isolated syndrome (CIS), myelin oligodendrocyte glycoprotein antibody disorder (MOGAD), and neuromyelitis optica spectrum disorder (NMOSD), are…
View article: Demographic Factors at Onset Predict a Relapsing Course in Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease
Demographic Factors at Onset Predict a Relapsing Course in Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Open
View article: Therapeutic Response in Pediatric Neuromyelitis Optica Spectrum Disorder
Therapeutic Response in Pediatric Neuromyelitis Optica Spectrum Disorder Open
This study provides Class IV evidence that use of disease-modifying treatments is associated with a lowered annualized relapse rate in children with NMOSD AQP4+.
View article: <scp>MOG</scp>and<scp>AQP4</scp>Antibodies among Children with Multiple Sclerosis and Controls
<span>MOG</span>and<span>AQP4</span>Antibodies among Children with Multiple Sclerosis and Controls Open
Objective The purpose of this study was to determine the frequency of myelin oligodendrocyte glycoprotein (MOG)‐IgG and aquaporin‐4 (AQP4)‐IgG among patients with pediatric‐onset multiple sclerosis (POMS) and healthy controls, to determine…
View article: Reverse Flow Shunt Restricted Free Venous Flap for a Ring Avulsion Injury
Reverse Flow Shunt Restricted Free Venous Flap for a Ring Avulsion Injury Open
Summary: Arterialized venous flaps can be an excellent option for reconstruction of digital defects. Previously, they remained unpopular owing to the high rate of venous congestion. Different techniques of restriction of the arteriovenous …
View article: An Evidence-Based Guideline Improves Outcomes for Patients With Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome
An Evidence-Based Guideline Improves Outcomes for Patients With Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome Open
Objective To compare clinical outcomes in children with hemophagocytic lymphohistiocytosis (HLH) and macrophage activation syndrome (MAS) who were managed before and after implementation of an evidence-based guideline (EBG). Methods A mana…
View article: <scp>ZSCAN1</scp> Autoantibodies Are Associated with Pediatric Paraneoplastic <scp>ROHHAD</scp>
<span>ZSCAN1</span> Autoantibodies Are Associated with Pediatric Paraneoplastic <span>ROHHAD</span> Open
Objective Rapid‐onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD), is a severe pediatric disorder of uncertain etiology resulting in hypothalamic dysfunction and frequent sudden death. Freque…
View article: Novel <scp><i>CAPN1</i></scp> missense variants in complex hereditary spastic paraplegia with early‐onset psychosis
Novel <span><i>CAPN1</i></span> missense variants in complex hereditary spastic paraplegia with early‐onset psychosis Open
CAPN1 ‐associated hereditary spastic paraplegia (SPG76) is a rare and clinically heterogenous syndrome due to loss of calpain‐1 function. Here we illustrate a translational approach to the case of an 18‐year‐old patient who first presented…
View article: Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children
Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children Open
OMAS is a rare neurologic condition that can be associated with poor cognitive outcomes. This report proposes an approach to investigation and treatment of children presenting with OMAS, based on expert international opinion recognizing th…
View article: Gene–environment interactions increase the risk of pediatric-onset multiple sclerosis associated with ozone pollution
Gene–environment interactions increase the risk of pediatric-onset multiple sclerosis associated with ozone pollution Open
Background: We previously reported a relationship between air pollutants and increased risk of pediatric-onset multiple sclerosis (POMS). Ozone is an air pollutant that may play a role in multiple sclerosis (MS) pathoetiology. CD86 is the …
View article: Association Between Time Spent Outdoors and Risk of Multiple Sclerosis
Association Between Time Spent Outdoors and Risk of Multiple Sclerosis Open
If this is a causal association, spending more time in the sun during summer may be strongly protective against developing pediatric MS, as well as residing in a sunnier location.
View article: Author Correction: Pan-viral serology implicates enteroviruses in acute flaccid myelitis
Author Correction: Pan-viral serology implicates enteroviruses in acute flaccid myelitis Open
View article: Use and Safety of Immunotherapeutic Management of <i>N</i>-Methyl-<scp>d</scp>-Aspartate Receptor Antibody Encephalitis
Use and Safety of Immunotherapeutic Management of <i>N</i>-Methyl-<span>d</span>-Aspartate Receptor Antibody Encephalitis Open
Factors influencing functional outcomes and relapse are different and need to be considered independently in development of evidence-based optimal management guidelines of patients with NMDARE.
View article: Increased Prevalence of Familial Autoimmune Disease in Children With Opsoclonus-Myoclonus Syndrome
Increased Prevalence of Familial Autoimmune Disease in Children With Opsoclonus-Myoclonus Syndrome Open
In a cohort of pediatric patients with OMS, there were elevated rates of first-degree relative autoimmune disease, with no difference in rates observed between paraneoplastic and idiopathic etiologies, suggesting an autoimmune genetic cont…
View article: Gut microbiome is associated with multiple sclerosis activity in children
Gut microbiome is associated with multiple sclerosis activity in children Open
Objective To identify features of the gut microbiome associated with multiple sclerosis activity over time. Methods We used 16S ribosomal RNA sequencing from stool of 55 recently diagnosed pediatric‐onset multiple sclerosis patients. Micro…
View article: Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA Open