Neurology Commons^™

Genetic Susceptibility To Cognitive Decline Following Craniospinal Irradiation For Pediatric Central Nervous System Tumors, Austin L Brown, Pagna Sok, Kimberly P Raghubar, Philip J Lupo, Melissa A Richard, Alanna C Morrison, Jun J Yang, Clinton F Stewart, Mehmet Fatih Okcu, Murali M Chintagumpala, Amar Gajjar, Lisa S Kahalley, Heather Conklin, Michael E Scheurer

Faculty, Staff and Student Publications

BACKGROUND: Survivors of pediatric central nervous system (CNS) tumors treated with craniospinal irradiation (CSI) exhibit long-term cognitive difficulties. Goals of this study were to evaluate longitudinal effects of candidate and novel genetic variants on cognitive decline following CSI.

METHODS: Intelligence quotient (IQ), working memory (WM), and processing speed (PS) were longitudinally collected from patients treated with CSI (n = 241). Genotype-by-time interactions were evaluated using mixed-effects linear regression to identify common variants (minor allele frequency > 1%) associated with cognitive performance change. Novel variants associated with cognitive decline (P < 5 × 10-5) in individuals of European ancestry (n = 163) were considered replicated if they demonstrated consistent genotype-by-time interactions (P < .05) in individuals of non-European ancestries (n = 78) and achieved genome-wide statistical significance (P < 5 × 10-8) in a meta-analysis across ancestry groups.

RESULTS: Participants were mostly males (65%) diagnosed with embryonal tumors (98%) at …

Objectivity, Practicality, And Significance Of Practice Guidelines For The Practicing Neurologists: What We Learnt From Consensus Criteria In Cidp, Myasthenia Gravis And Inflammatory Myopathies, Marinos C. Dalakas

Department of Neurology Faculty Papers

The value of practice guidelines in the three most common autoimmune neuromuscular disorders, namely Chronic Inflammatory Demyelinating Polyneuropathy (CIDP), Myasthenia Gravis (MG) and Autoimmune Inflammatory Myopathies (AIM), has been extensively debated regarding their usefulness in clinical practice, objectivity and universal value considering that guidelines are also established regionally in certain countries. This commentary highlights common concerns on how guidelines are presently generated, pointing out: (a) non-sufficient diversity among Task-Force members to identify and address not only routine clinical and electrophysiology issues but also immunology, imaging, pathology, biomarkers, epidemiology or treatment economics; (b) Task-Force being often comprised by the same or …

Psychiatric Comorbidity In People With Epilepsy, Bushra Khalid, Zaid Waqar, Zakir Jan, Soban Khan, Amina Saddiqa, Anum Irfan, Waleed Malik, Samer Naik, Naheed Afzal, Hira Abbasi

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective: People with epilepsy often experience psychiatric comorbidity. This study aims to investigate the relationship among seizure regulation, psychiatric comorbidity, and antiepileptic drug use in a group of individuals with epilepsy in Pakistan.

Methods: This is an observational study conducted at Pakistan Institute of Medical Sciences, over a period of six months (1st June – 31st Dec 2022). One-hundred-twenty people (sample size) with epilepsy above the age of 18 with confirmed diagnosis of epilepsy were included in the study who completed a questionnaire that assessed their seizure control, psychiatric comorbidity, and antiepileptic drug use. Data was analyzed using …

Factors Associated With Dropout From Outpatient Tertiary Mental Health Services, Nasir Mahmood, Uroosa Talib

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: There is a paucity of mental health hospital-based studies from Pakistan that have observed the contributing factors of dropout. This study aims to understand contributing factors to dropouts from mental health services.

Method: This telephonic survey was conducted as a cross-sectional study from dropout outpatients of Karwan-e-Hayat Institute for Mental Health Care, a tertiary mental care hospital in Karachi, Pakistan. Using a simple questionnaire to assess socio-demographic variables, psychosocial assessment, and patient perspectives on treatment termination. A total of 158 participants out of 200 patients provided insight into their dropout experiences.

Result: Results revealed that younger adults, …

Neuro-Palliative Medicine, Shazia Faiz

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Cyclic Alternating Pattern Of Encephalopathy (Cape) In Cns Infection: A Case Report, Zaid Waqar, Soban Khan, Maryam Khalil, Bushra Khalid, Zakir Jan, Muhammad Adil, Amina Saddiqa

Pakistan Journal of Neurological Sciences (PJNS)

Cyclic Alternating Pattern of Encephalopathy (CAPE) is rare EEG phenomenon first described in 1944 in a comatose patient. It is similar to sleep EEG pattern of cyclic alternating pattern (CAP) which is a periodic electroencephalogram activity of non-REM sleep. The cyclic alternating pattern (CAP) is defined by sequences of transient electrocortical events that are different from the tonic background and repeat at intervals of up to one minute. CAPE, however, is abnormal EEG pattern. In this pattern of EEG abnormality slow wave activity of 1-2Hz alternates with fast activity of 6-10 hertz. Here we present a case of patient with …

Anti-Caspr 2 Antibody Encephalitis: A Case Report, Maryam Khalil, Zaid Waqar, Hira Badar Abbasi, Amina Saddiqa, Bushra Khalid, Soban Khan

Pakistan Journal of Neurological Sciences (PJNS)

Encephalitis is a term denoted to Inflammation in the brain which can be due to infection, autoimmunity, or can be a part of a paraneoplastic phenomenon with malignancy. Anti-CASPR 2 antibody encephalitis is a rare form of encephalitis that can be associated with malignancy, paraneoplastic phenomenon or can be an autoimmune disease. We present a case of a young boy who presented with new onset seizures and altered sensorium and was diagnosed with anti-CASPR 2 antibody encephalitis. Anti-CASPR 2 Antibody Encephalitis is a rare form of encephalitis which due to its great diverse presentation should be kept in the differential …

A Recommended Preclinical Extracorporeal Cardiopulmonary Resuscitation Model For Neurological Outcomes: A Scoping Review, Jin Kook Kang, Andrew Kalra, Syed A. Ahmad, Arjun K. Menta, Hannah J. Rando, Ifeanyi Chinedozi, Marcus Spann, Steven P. Keller, Glenn J.R. Whitman, Sung-Min Cho

Rothman Institute Papers

Background: Despite the high prevalence of neurological complications and mortality associated with extracorporeal cardiopulmonary resuscitation (ECPR), neurologically-focused animal models are scarce. Our objective is to review current ECPR models investigating neurological outcomes and identify key elements for a recommended model.

Methods: We searched PubMed and four other engines for animal ECPR studies examining neurological outcomes. Inclusion criteria were: animals experiencing cardiac arrest, ECPR/ECMO interventions, comparisons of short versus long cardiac arrest times, and neurological outcomes.

Results: Among 20 identified ECPR animal studies (n = 442), 13 pigs, 4 dogs, and 3 rats were used. Only 10% (2/20) included both sexes. …

The Role Of Exercise In The Alleviation Of Neuropathic Pain Following Traumatic Spinal Cord Injuries: A Systematic Review And Meta-Analysis, Amirmohammad Toloui, Hamzah Adel Ramawad, Pantea Gharin, Alexander Vaccaro, Hamed Zarei, Mostafa Hosseini, Mahmoud Yousefifard, Vafa Rahimi-Movaghar

Rothman Institute Papers

OBJECTIVE: The objective of this systematic review and meta-analysis was to assess the efficacy of exercise in neuropathic pain following traumatic spinal cord injuries.

METHODS: The search was conducted in MEDLINE, Embase, Scopus, and Web of Science by the end of 2022. Two independent researchers included the articles based on the inclusion and exclusion criteria. A standardized mean difference was calculated for each data and they were pooled to calculate an overall effect size. To assess the heterogeneity between studies, I2 and chi-square tests were utilized. In the case of heterogeneity, meta-regression was performed to identify the potential source.

RESULTS: …

Prevalence Of Stress Among The Healthcare Providers In A Tertiary Care Hospital In Karachi, Saba Zaidi, Syeda Areeba Tabassum

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective: Healthcare workers are considered high risk for stress. This study aimed to study the prevalence of stress among the health care providers in a tertiary care hospital in Karachi.

Methods: A cross-sectional study was conducted at Liaquat National Hospital from July to December 2021. All healthcare workers in the vicinity of the hospital including doctors, nurses, allied health specialists, and other healthcare professionals who provide hands-on patient care were included in the study. Data was collected through a pre-designed questionnaire GHQ-12; related to stress symptoms and their impact on daily routine activities. It was in a Google …

A Comprehensive Electroencephalogram Audit In A Tertiary Care Center In Pakistan: Demographic Distribution, Referral Indications And Findings, Hina Imtiaz, Ayisha Farooq Khan, Dureshahwar Kanwar, Naima Javed, Sara Khan

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective: Electroencephalography (EEG) is a widely employed non-invasive technique for recording brain electrical activity, pivotal for diagnosing various neurological conditions. The study aims to provide insight into demographic distribution, referral indications, and EEG findings in a tertiary care hospital in Pakistan.

Methods: A retrospective cross-sectional analysis was conducted involving 2,924 patients who underwent routine EEG evaluations over a three-year period. Data was collected from the EEG records after approval from the ethical review committee. Demographic variables, referral reasons, and EEG findings were recorded and analyzed using descriptive statistics.

Results: The study revealed a gender distribution of 41.35 % …

Factors Influencing The Headaches And Their Impact On Daily Life Of Medical Students, Saba Zaidi, Ayesha Abdul Samad

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective:

Medical students are considered high risk for headaches due to various triggers in their daily routine. The objective of this study was to assess the factors influencing headaches and their impact on the daily life of medical students.

Methods: This cross-sectional study utilized a sample of 242 participants who were selected through a convenient method of sampling. Data was collected from medical students of Liaquat National Medical College for a period of six months (January to June 2021). Data was gathered using pre-designed questionnaires that assessed demographic information, lifestyle factors (such as consumption of tea, coffee, and …

Primary Angiitis Of The Central Nervous System Presenting As Sudden Vision Loss In A Young Patient, Ayisha Farooq Khan, Lubna Jafri, Saad Shafqat

Pakistan Journal of Neurological Sciences (PJNS)

Primary angiitis of the central nervous system is a rare disorder that primarily affects the cerebral vessels and can prove to be a diagnostic challenge to the clinicians. It can present with a variety of clinical manifestations and lacks the evidence of any systemic disease. Digital subtraction angiography is often necessary to confirm the diagnosis of cerebral vasculitis but in cases where it may fail to do so, brain biopsy is eventually required. Obliviousness to this condition may lead to false management strategies and hence it is imperative to make an accurate diagnosis to facilitate proper treatment that mainly includes …

Sex-Dependent Effects Of Intestinal Microbiome Manipulation In A Mouse Model Of Alzheimer’S Disease, Harpreet Kaur, Suba Nookala, Surjeet Singh, Santhosh Mukundan, Kumi Nagamoto-Combs, Colin K. Combs

Biomedical Sciences Faculty Publications

Mechanisms linking intestinal bacteria and neurodegenerative diseases such as Alzheimer’s disease (AD) are still unclear. We hypothesized that intestinal dysbiosis might potentiate AD, and manipulating the microbiome to promote intestinal eubiosis and immune homeostasis may improve AD-related brain changes. This study assessed sex differences in the effects of oral probiotic, antibiotics, and synbiotic treatments in the AppNL-G-F mouse model of AD. The fecal microbiome demonstrated significant correlations between bacterial genera in AppNL-G-F mice and Aβ plaque load, gliosis, and memory performance. Female and not male AppNL-G-F mice fed probiotic but not synbiotic exhibited a decrease in Aβ plaques, microgliosis, brain …

Ataxic Variant Of Guillain Barre Syndrome: A Case Report, Haris Majid Rajput, Malik Muhammad Adil, Maryam Khalil, Nayab Aslam, Zaid Waqar

Pakistan Journal of Neurological Sciences (PJNS)

A 17-year-old girl was admitted after acute onset of unsteady gait succeeding acute gastroenteritis. Neurological examination reported normal power in all four limbs, impaired finger-nose, heel-shin tests, areflexia and ataxic gait. We eliminated other diseases with cerebellar symptoms; for example, Wernicke encephalopathy, multiple sclerosis, cerebellar vascular disease , encephalitis in the brain stem and cerebellum. Blood serum collected from the patient during the acute phase showed no anti-ganglioside antibodies. As the patient presented with evident cerebellar ataxia without muscle weakness, ophthalmoplegia or proprioceptive sensory disruption a diagnosis of ataxic form of Guillain-Barré syndrome (GBS) after nerve conduction studies. Though ataxic …

Interictal Respiratory Variability Predicts Severity Of Hypoxemia After Generalized Convulsive Seizures, Rup K Sainju, Deidre N Dragon, Harold B Winnike, Laura Vilella, Xiaojin Li, Samden Lhatoo, Patrick Ten Eyck, Linder H Wendt, George B Richerson, Brian K Gehlbach

Faculty, Staff and Student Publications

Objective: Severe respiratory dysfunction induced by generalized convulsive seizures (GCS) is now thought to be a common mechanism for sudden unexpected death in epilepsy (SUDEP). In a mouse model of seizure-induced death, increased interictal respiratory variability was reported in mice that later died of respiratory arrest after GCS. We studied respiratory variability in epilepsy patients as a predictive tool for severity of postictal hypoxemia, a potential biomarker for SUDEP risk. We then explored the relationship between respiratory variability and central CO2 drive, measured by the hypercapnic ventilatory response (HCVR).

Methods: We reviewed clinical, video-electroencephalography, and respiratory (belts, airflow, pulse oximeter, …

Social Distancing And Extremely Preterm Births In The Initial Covid-19 Pandemic Period, Christopher M Orlando, Carlos A Pérez, Paunel Agyei, Marwah Elsehety, Sonia Kaur Singh, Joseph Thomas, Omar Alaina, John A Lincoln

Faculty, Staff and Student Publications

Background:

Black and Hispanic patients with multiple sclerosis (MS) have been shown to accumulate greater multiple sclerosis–associated disability (MSAD) than White patients. Disparities in social determinants of health (SDOH) among these groups have also been reported.

Objective:

To determine the extent to which associations of race and ethnicity with MSAD may be attributable to differences in SDOH.

Methods:

Retrospective chart analysis of patients at an academic MS center grouped by self-identified Black (n = 95), Hispanic (n = 93), and White (n = 98) race/ethnicity. Individual patient addresses were geocoded and matched with neighborhood-level area deprivation index …

Safety And Efficacy Of Long-Term Deutetrabenazine Use In Children And Adolescents With Tics Associated With Tourette Syndrome: An Open-Label Extension Study, Joseph Jankovic, Barbara Coffey, Daniel O Claassen, Joohi Jimenez-Shahed, Barry J Gertz, Elizabeth A Garofalo, David A Stamler, Maria Wieman, Juha-Matti Savola, Eran Harary, Jessica Alexander, Hadas Barkay, Mark Forrest Gordon

Faculty, Staff and Students Publications

BACKGROUND: Tourette syndrome (TS) is a neurodevelopmental disorder characterized by motor and phonic tics.

OBJECTIVE: To assess the safety and efficacy of deutetrabenazine (Teva Neuroscience, Inc, Parsippany, NJ), a vesicular monoamine transporter 2 inhibitor, in children and adolescents with TS.

METHODS: Alternatives for Reducing Tics in TS (ARTISTS) open-label extension (OLE) (NCT03567291) was a 54-week, global, phase 3, open-label extension study of deutetrabenazine (6-48 mg daily) conducted May 28, 2018 to April 3, 2020 with a 2-week randomized withdrawal period. Participants (6-16 years of age) had TS and active tics causing distress or impairment. Safety (primary outcome) was assessed by …

Distribution Of Hand Function By Age In Individuals With Rett Syndrome, Jeffrey L Neul, Tim A Benke, Eric D Marsh, Jane B Lane, David N Lieberman, Steven A Skinner, Daniel G Glaze, Bernhard Suter, Peter T Heydemann, Arthur A Beisang, Shannon M Standridge, Robin C C Ryther, Richard H Haas, Lloyd J Edwards, Amitha Ananth, Alan K Percy

Faculty, Staff and Students Publications

OBJECTIVE: To determine the longitudinal distribution of hand function skills in individuals with classic Rett Syndrome (RTT), an X-linked dominant neurodevelopmental disorder, and correlate with

METHOD: We conducted a longitudinal study of 946 girls and young women with typical RTT seen between 2006 and 2021 in the US Natural History Study (NHS) featuring a structured clinical evaluation to assess the level of hand function skills. The specific focus in this study was to assess longitudinal variation of hand skills from age 2 through age 18 years in relation to specific

RESULTS: Following the initial regression period, hand function continues to …

The Transcription Factor Chrebp Links Mitochondrial Lipidomes To Mitochondrial Morphology And Progression Of Diabetic Kidney Disease, Li Li, Jianyin Long, Koki Mise, Naravat Poungavrin, Philip L Lorenzi, Iqbal Mahmud, Lin Tan, Pradip K Saha, Yashpal S Kanwar, Benny H Chang, Farhad R Danesh

Faculty, Staff and Students Publications

A substantial body of evidence has established the contributions of both mitochondrial dynamics and lipid metabolism to the pathogenesis of diabetic kidney disease (DKD). However, the precise interplay between these two key metabolic regulators of DKD is not fully understood. Here, we uncover a link between mitochondrial dynamics and lipid metabolism by investigating the role of carbohydrate-response element-binding protein (ChREBP), a glucose-responsive transcription factor and a master regulator of lipogenesis, in kidney podocytes. We find that inducible podocyte-specific knockdown of ChREBP in diabetic db/db mice improves key biochemical and histological features of DKD in addition to significantly reducing mitochondrial fragmentation. …

Time To Reperfusion Is Not Associated With Functional Outcomes In First‐Pass Reperfusion: Analysis Of The Stratis Registry, Nathan W. Manning, Ameer E. Hassan, David S. Liebeskind, Nils H. Mueller‐Kronast, Ashutosh P. Jadhav, Raul G. Nogueira, Dileep R. Yavagal, Andrew Cheung, Jason Wenderoth

School of Medicine Publications

Background

Time is considered a fundamental driver of treatment success in ischemic stroke reperfusion therapy. First‐pass reperfusion (FPR) is associated with improved outcomes. We explored the association between time to reperfusion, FPR, and functional outcomes in an analysis of the STRATIS (Systematic Evaluation of Patients Treated With Neurothrombectomy Devices for Acute Ischemic Stroke) registry data.

Methods

Registry patients with anterior circulation stroke, treated with endovascular thrombectomy and achieving complete or near‐complete expanded Thrombolysis in Cerebral Infarction scale (eTICI) 2c/3 reperfusion per core laboratory assessment were included. FPR was considered eTICI 2c/3 reperfusion in a single device pass. Patients undergoing multipass …

Bidirectional Association Between Parkinson’S Disease And Obstructive Sleep Apnea: A Cohort Study, Seung-Ho Jeon, Yun Su Hwang, Sun-Young Oh, Byoung-Soo Shin, Min Gu Kang, Min Gyu Lee, Sang Woo Yeom, Jong Hwan Lee, Hyun Goo Kang, Jong Seung Kim

Faculty, Staff and Student Publications

STUDY OBJECTIVES: Chronic intermittent hypoxia due to obstructive sleep apnea (OSA) causes oxidative stress, which may contribute to the pathophysiology of Parkinson's disease (PD). However, the bidirectional relationship between PD and OSA has not been satisfactorily established. The objective of this study was to try to estimate whether there is a bidirectional relationship between PD and OSA through a retrospective cohort study in the South Korean population.

METHODS: This study used data from the Korean National Health Information Database of the National Health Insurance Service, which contains data from 3.5 million individuals evenly distributed. In study 1, patients with OSA …

Innate Immune Activation And White Matter Injury In A Rat Model Of Neonatal Intraventricular Hemorrhage Are Dependent On Developmental Stage, Miriam Zamorano, Scott D Olson, Candice Haase, Juan J Herrera, Shuning Huang, David J Sequeira, Charles S Cox, Brandon A Miller

Faculty, Staff and Student Publications

Background: Inflammation and white matter injury are consequences of neonatal intraventricular hemorrhage (IVH). Both white matter and the neuroimmune system are developing during the time which IVH occurs and its consequences develop. IVH has been studied in many different animal models; however, the effects of IVH occurring at different developmental time points in the same model have not been examined. Understanding how the timing of IVH affects outcome may provide important insights into both IVH pathophysiology and innate immune development.

Methods: We used intraventricular injection of lysed whole blood to model neonatal IVH in postnatal day (P)2 and P5 rats. …

Abnormal Motion Capture In Acute Stroke (Bionics): A Low-Cost Tele-Evaluation Tool For Automated Assessment Of Upper Extremity Function In Stroke Patients, Syed A Zamin, Kaichen Tang, Emily A Stevens, Melissa Howard, Dorothea M Parker, Allyson Seals, Xiaoqian Jiang, Sean Savitz, Shayan Shams

Faculty, Staff and Student Publications

BACKGROUND: The incidence of stroke and stroke-related hemiparesis has been steadily increasing and is projected to become a serious social, financial, and physical burden on the aging population. Limited access to outpatient rehabilitation for these stroke survivors further deepens the healthcare issue and estranges the stroke patient demographic in rural areas. However, new advances in motion detection deep learning enable the use of handheld smartphone cameras for body tracking, offering unparalleled levels of accessibility.

METHODS: In this study we want to develop an automated method for evaluation of a shortened variant of the Fugl-Meyer assessment, the standard stroke rehabilitation scale …

Sexually Dimorphic Extracellular Vesicle Responses After Chronic Spinal Cord Injury Are Associated With Neuroinflammation And Neurodegeneration In The Aged Brain, Yun Li, Niaz Khan, Rodney M Ritzel, Zhuofan Lei, Samantha Allen, Alan I Faden, Junfang Wu

Faculty, Staff and Student Publications

Background

Medical advances have made it increasingly possible for spinal cord injury (SCI) survivors to survive decades after the insult. But how SCI affects aging changes and aging impacts the injury process have received limited attention. Extracellular vesicles (EVs) are recognized as critical mediators of neuroinflammation after CNS injury, including at a distance from the lesion site. We have previously shown that SCI in young male mice leads to robust changes in plasma EV count and microRNA (miR) content. Here, our goal was to investigate the impact of biological sex and aging on EVs and brain after SCI.

Methods

Young …

Cerebellar Interneurons Control Fear Memory Consolidation Via Learning-Induced Hcn Plasticity, Kathryn Lynn Carzoli, Georgios Kogias, Jessica Fawcett-Patel, Si-Qiong J. Liu

School of Medicine Faculty Publications

While synaptic plasticity is considered the basis of learning and memory, modifications of the intrinsic excitability of neurons can amplify the output of neuronal circuits and consequently change behavior. However, the mechanisms that underlie learning-induced changes in intrinsic excitability during memory formation are poorly understood. In the cerebellum, we find that silencing molecular layer interneurons completely abolishes fear memory, revealing their critical role in memory consolidation. The fear conditioning paradigm produces a lasting reduction in hyperpolarization-activated cyclic nucleotide-gated (HCN) channels in these interneurons. This change increases intrinsic membrane excitability and enhances the response to synaptic stimuli. HCN loss is driven …

A Polygenic Risk Score For Alzheimer’S Disease Constructed Using Apoe-Region Variants Has Stronger Association Than Apoe Alleles With Mild Cognitive Impairment In Hispanic/Latino Adults In The Us, Tamar Sofer, Nuzulul Kurniansyah, Einat Granot-Hershkovitz, Matthew O Goodman, Wassim Tarraf, Iris Broce, Richard B Lipton, Martha Daviglus, Melissa Lamar, Sylvia Wassertheil-Smoller, Jianwen Cai, Charles S Decarli, Hector M Gonzalez, Myriam Fornage

Faculty, Staff and Student Publications

INTRODUCTION: Polygenic Risk Scores (PRSs) are summaries of genetic risk alleles for an outcome.

METHODS: We used summary statistics from five GWASs of AD to construct PRSs in 4,189 diverse Hispanics/Latinos (mean age 63 years) from the Study of Latinos-Investigation of Neurocognitive Aging (SOL-INCA). We assessed the PRS associations with MCI in the combined set of people and in diverse subgroups, and when including and excluding the APOE gene region. We also assessed PRS associations with MCI in an independent dataset from the Mass General Brigham Biobank.

RESULTS: A simple sum of 5 PRSs ("PRSsum"), each constructed based on a …

A Narrative Review On Treatment Strategies For Neonatal Hypoxic Ischemic Encephalopathy, Janelle M Korf, Louise D Mccullough, Viola Caretti

Faculty, Staff and Student Publications

Background and Objective

Hypoxic-ischemic encephalopathy (HIE) is a leading cause of death and disability worldwide. Therapeutic hypothermia (TH) represents a significant achievement in the translation of scientific research to clinical application, but it is currently the only neuroprotective treatment for HIE. This review aims to revisit the use of TH for HIE and its longitudinal impact on patient outcomes to readers new to the field of HIE. We discuss how emerging therapies address the broader pathophysiology of injury progression in the neonatal brain days to years after HIE.

Methods

We included full articles and book chapters published in English on …

A Polygenic Risk Score For Alzheimer’S Disease Constructed Using Apoe-Region Variants Has Stronger Association Than Apoe Alleles With Mild Cognitive Impairment In Hispanic/Latino Adults In The Us, Tamar Sofer, Nuzulul Kurniansyah, Einat Granot-Hershkovitz, Matthew O Goodman, Wassim Tarraf, Iris Broce, Richard B Lipton, Martha Daviglus, Melissa Lamar, Sylvia Wassertheil-Smoller, Jianwen Cai, Charles S Decarli, Hector M Gonzalez, Myriam Fornage

Faculty, Staff and Student Publications

INTRODUCTION: Polygenic Risk Scores (PRSs) are summaries of genetic risk alleles for an outcome.

METHODS: We used summary statistics from five GWASs of AD to construct PRSs in 4,189 diverse Hispanics/Latinos (mean age 63 years) from the Study of Latinos-Investigation of Neurocognitive Aging (SOL-INCA). We assessed the PRS associations with MCI in the combined set of people and in diverse subgroups, and when including and excluding the APOE gene region. We also assessed PRS associations with MCI in an independent dataset from the Mass General Brigham Biobank.

RESULTS: A simple sum of 5 PRSs ("PRSsum"), each constructed based on a …

Examining The Latent Structure And Correlates Of Sensory Reactivity In Autism: A Multi-Site Integrative Data Analysis By The Autism Sensory Research Consortium, Zachary J. Williams, Roseann Schaaf, Karla K. Ausderau, Grace T. Baranek, D. Jonah Barrett, Carissa J. Cascio, Rachel L. Dumont, Ekomobong E. Eyoh, Michelle D. Failla, Jacob I. Feldman, Jennifer H. Foss-Feig, Heather L. Green, Shulamite A. Green, Jason L. He, Elizabeth A. Kaplan-Kahn, Bahar Keçeli-Kaysılı, Keren Maclennan, Zoe Mailloux, Elysa J. Marco, Lisa E. Mash, Elizabeth P. Mckernan, Sophie Molholm, Stewart H. Mostofsky, Nicolaas A.J. Puts, Caroline E. Robertson, Natalie Russo, Nicole Shea, John Sideris, James S. Sutcliffe, Teresa Tavassoli, Mark T. Wallace, Ericka L. Wodka, Tiffany G. Woynaroski

Department of Occupational Therapy Faculty Papers

BACKGROUND: Differences in responding to sensory stimuli, including sensory hyperreactivity (HYPER), hyporeactivity (HYPO), and sensory seeking (SEEK) have been observed in autistic individuals across sensory modalities, but few studies have examined the structure of these "supra-modal" traits in the autistic population.

METHODS: Leveraging a combined sample of 3868 autistic youth drawn from 12 distinct data sources (ages 3-18 years and representing the full range of cognitive ability), the current study used modern psychometric and meta-analytic techniques to interrogate the latent structure and correlates of caregiver-reported HYPER, HYPO, and SEEK within and across sensory modalities. Bifactor statistical indices were used to …