Medical Specialties Commons^™

Use Of The 0.3-Tesla Mri Machine In Pakistan For Neurological Disorders In The Current Era: A Necessary Compromise Or A Counterproductive Exercise?, Wajid Jawaid

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Beyond The Mosquito Sting: Guillain-Barre Syndrome Following Malarial Seasonal Surge, Sana Ghous, Alam Ibrahim Siddiqui, Abdul Rahman Soomro, Abu Bakar Shaikh, Sajjad Hussain Jalbani, Abdul Ghafoor Magsi

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and objective:

Malaria, a prevalent disease most commonly caused by Plasmodium vivax and falciparum, frequently leads to intricate neurological complications. The objective of this study was to study Guillain-Barre syndrome as a prevalent neurological manifestation of malaria.

Methods:

A cross-sectional observational study was undertaken at Neurology Department of Chandka Medical College Hospital in Larkana, from April 2023 to September 2023 during the seasonal peak of malaria. The study included 20 patients who met the specified criteria. SPSS version 23.0 was used for data analysis.

Results:

Among the 20 patients who developed Guillain-Barre Syndrome following malaria infection, 18 exhibited …

Timing Of Decompressive Surgery In Patients With Acute Spinal Cord Injury: Systematic Review Update, Michael G Fehlings, Laureen D Hachem, Lindsay A Tetreault, Andrea C Skelly, Joseph R Dettori, Erika D Brodt, Shay Stabler-Morris, Britt J Redick, Nathan Evaniew, Allan R Martin, Benjamin Davies, Farzin Farahbakhsh, James D Guest, Daniel Graves, Radha Korupolu, Stephen L Mckenna, Brian K Kwon

Faculty, Staff and Student Publications

STUDY DESIGN: Systematic review and meta-analysis.

OBJECTIVE: Surgical decompression is a cornerstone in the management of patients with traumatic spinal cord injury (SCI); however, the influence of the timing of surgery on neurological recovery after acute SCI remains controversial. This systematic review aims to summarize current evidence on the effectiveness, safety, and cost-effectiveness of early (≤24 hours) or late (>24 hours) surgery in patients with acute traumatic SCI for all levels of the spine. Furthermore, this systematic review aims to evaluate the evidence with respect to the impact of ultra-early surgery (earlier than 24 hours from injury) on these …

Wilson’S Disease Presenting As Status Epilepticus: A Case Report, Iqra Athar, Neelma Naz Khattak, Hania Batool, Tehreem Farah, Tashfain Shifa, Zukhruf Zayian

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Wilson’s disease (WD) is a rare disorder of copper metabolism, caused by a mutation in the ATPB7 gene, resulting in a defect in copper elimination leading to its accumulation in various organs, with the liver being the most common. Here, we describe a case of a 19-year-old boy who presented with a history of hallucinations and status epilepticus. Initial investigations were normal, but due to a rising trend in alanine transaminase (ALT), a slit lamp examination was performed, revealing Kayser-Fleischer (KF) rings in the eyes. The patient was diagnosed with WD due to the presence of these KF rings …

Atypical Facio-Scapulo-Humeral Dystrophy With Facial Sparing: A Case Report, Umer Younas, Asma Aamir, Farooq Azam Rathore

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Facio-Scapulo-Humeral Dystrophy (FSHD) is an autosomal dominant and third most common inherited muscular dystrophy. Typical phenotype of FSHD initially affects the muscles of the face and upper arm. Atypical FSHD refers to genetically confirmed FSHD with phenotypic variations. Scapulo-Humeral Dystrophy (SHD) is the most common atypical form of FSDH characterized by no facial muscle weakness on clinical examination, while other signs remain consistent with FSHD. We report a 31-year-old male who presented with foot drop and had an unexpected presentation as SHD. Provisional diagnosis of SHD was based on careful medical history, physical examination findings, modest rise in muscle …

Role Of Minimal F-Wave Latency In The Electrodiagnosis Of Polyneuropathy, Areeba Qaiser, Safia Bano, Muhammad Imran Khan, Ahsan Numan

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and Objective:

Polyneuropathy is a debilitating condition that causes damage to more than two peripheral nerves in the body. The objective of this research was to detect the role of minimal F-wave latency as compared with other nerve conduction parameters for the electro-diagnosis of polyneuropathies.

Methods:

In this descriptive, prospective cross-sectional study, 80 consecutive patients with clinical diagnosis of polyneuropathy (both acute and chronic) between July and December 2023, presenting to the Neurology Department at King Edward Medical University were enrolled. Patients with clinical diagnosis of cervical/lumbar radiculopathies, plexopathies, compressive myelopathy , neuromuscular junction diseases, motor neuron disorders, …

Analyzing The Impact Of Pulse Steroid Therapy On Relapse Rates And Disease Progression In Relapsing-Remitting Multiple Sclerosis: A Comprehensive Retrospective Study, Sana Ghous, Anjlee Shankar, Abdul Rahman Soomro, Abdul Qadir Baloch, Asif Ali, Alam Ibrahim Siddiqui

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and Objective:

Relapsing remitting MS (RRMS) is characterized by recurrent relapses with remissions. Over an extended time-frame, high-dose steroid administration has primarily centered on the treatment of acute relapses, rather than relapse prevention. The objective of this retrospective study is to assess the long-term impact of administering three monthly pulse steroid therapy for three days on relapse rates and the Expanded Disability Status Scale (EDSS) scores in patients with RRMS.

Methods:

This study was conducted at Neurology ward of Chandka Medical College Hospital in Larkana from January 2021 to January 2023. A retrospective analysis of historical patient data, …

Functional Movement Disorders: Understanding, Approach And Diagnosis, Hudaibiya Ayub, Talbiya Ayub, Rasheed Azhar

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

This commentary offers a comprehensive examination of Functional Movement Disorders (FMD) and explores recent advancements in our understanding and treatment of these intricate syndromes. FMDs challenge clinicians due to their variable nature and diverse clinical presentations, often intertwined with psychological factors. Impairments in motor intention and agency must be considered when providing care. Recognizing that non-motor symptoms can have a major impact on a patient's quality of life is equally important. Recognizing FMDs as multi-faceted conditions requiring multidisciplinary care allows consideration of cognitive, social, and demographic aspects.

Hypertonic Saline For Ischemic Stroke: A Review, Rameen Ata Bajwa, Angelina Jessani, Hanan Farzand Raja, Bisma Aziz

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and objective:

Elevated intracranial pressure (ICP) is a critical complication of ischemic stroke. This review article summarizes existing literature pertaining to the role of hypertonic saline (HTS) in lowering ICP in ischemic stroke patients.

Methods:

Studies were selected using a comprehensive search of several research databases. Studies conducted in adult (aged 18 and older) human patients receiving HTS osmotherapy for elevated ICP were included, encompassing a wide range of neurological conditions and various administration methods, durations, and concentrations of HTS.

Results:

We found HTS to reduce ICP in ischemic stroke patients, on par effectively, and in some studies, …

Of Hearth And Home: Professional Wellness After Hours, Timothy J. Ainger, Meriem Bensalem-Owen, Joanna Fong-Isariyawongse, Matthew William Luedke

Neurology Faculty Publications

Burnout is a prevalent problem in the contemporary practice of medicine. Defined by the Agency for Healthcare Research and Quality as, “a long-term stress reaction marked by emotional exhaustion, depersonalization, and a lack of sense of personal accomplishment,” this multifactorial condition has significant implications for the clinicians who suffer it, their patients, and families. Neurologists suffer some of the highest rates of burnout. Burnout research on interventions often focus on the work environment. In this article, we will focus on burnout’s effects on home life and features of home life that can impact resiliency, specifically sleep hygiene.

Mnemonic Utilization In Stroke Education: Fast And Befast Adoption By Certified Comprehensive Stroke Centers, Christopher Hogge, Larry B. Goldstein, Sushanth R. Aroor

Neurology Faculty Publications

Introduction: Symptom recognition and timely access to treatment are critical components of acute stroke care systems. Two mnemonics widely used in public educational campaigns for recognizing stroke symptoms include FAST (Face-Arm-Speech-Time) and BEFAST (Balance-Eyes-Face-Arm Speech-Time). The FAST mnemonic can miss up to 14% of strokes. BEFAST includes common posterior circulation stroke symptoms and has been implemented by several Comprehensive Stroke Centers (CSCs).

Methods: We sought to analyze the pattern of public educational materials available on the websites of US CSCs. The Joint Commission (JC) quality check website compiles a list containing the names and locations of the country’s 217 JC-certified …

National Trends Of Vascular Risk Factor Control Among Stroke Survivors: From The National Health And Nutrition Examination Survey 2009 To 2020, Hend Mansoor, Daniel Manion, Kara Jo Swafford, Gregory A. Jicha, Daniela Claudia Moga

Neurology Faculty Publications

BACKGROUND: Contemporary data describing the national trends on vascular risk factor control among stroke survivors are limited.

METHODS AND RESULTS: This is a cross-sectional analysis of the National Health and Nutrition Examination Survey cycles 2009 to 2010 to 2017 to March 2020. Adults (≥18 years of age) with a self-reported diagnosis of stroke were identified. Age- adjusted trends in hypertension, diabetes, and hyperlipidemia control were examined. Sex and racial differences in vascular risk factor control were also investigated. Among 32 497 adult individuals who participated in the National Health and Nutrition Examination Survey, 1354 participants (4.2%) self-reported a prior diagnosis …

Severe Stiff-Person Syndrome After Covid: The First Video-Documented Covid Exacerbation And Viral Implications, Marinos C. Dalakas

Department of Neurology Faculty Papers

OBJECTIVES: To describe a patient with mild GAD-positive stiff-leg syndrome (SLS) who developed severely disabling stiff-person syndrome (SPS) 1 week after mild COVID-19 and discuss the impact of viral implications.

METHODS: Video-documented serial clinical observations at baseline, after acute COVID-19, and after IVIG treatments.

RESULTS: A 39-year-old man with left-SLS was stable during a 2-year follow-up with low-dose antispasmodics, working fully and functioning normally, even able to run. One week after mild COVID-19, he started to experience generalized SPS symptomatology that steadily worsened the following 2-3 weeks, becoming unable to walk, requiring a walker, with significant thoracolumbar and bilateral leg …

Demographics And Paindetect As Predictors Of 24-Month Outcomes For 10 Khz Scs In Nonsurgical Refractory Back Pain, Leonardo Kapural, Chengyuan Wu, Aaron Calodney, Julie Pilitsis, Markus Bendel, Erika Petersen, Dawood Sayed, Colleen Kelly, Rose Province-Azalde, Naresh P. Patel

Department of Neurosurgery Faculty Papers

BACKGROUND: Nonsurgical refractory back pain (NSRBP) is broadly defined as chronic refractory back pain in patients who have not had previous spine surgery and, because they are deemed inappropriate candidates for surgery, are reliant on conventional medical management (CMM), which often provides poor long-term outcomes. High-frequency spinal cord stimulation (10kHz SCS) has demonstrated high rates of pain relief and improvements in functioning in patients with NSRBP. However, despite the use of temporary trial stimulation to select patients who will respond to therapy, some patients fail to achieve long-term therapy response with permanent implants. Prediction analysis founded on patients' baseline characteristics …

Lenalidomide In The Treatment Of Anti-Myelin-Associated Glycoprotein Neuropathy: A Phase 1 Study To Identify The Maximum Tolerated Dose., Amro M Stino, Naresh Bumma, Rachel Smith, Long Davalos, Jeff Allen, Jing Christine Ye, Matthew Pianko, Erica Campagnaro, Cassandra Fierro, Abdelrahman Awad, Ben Murdock, Maciej Pietrzak, Gerard Loszanski, David M Kline, Yvonne Efebera, Bakri Elsheikh

Neuroscience Articles

BACKGROUND: Anti-myelin-associated glycoprotein (MAG) neuropathy is a debilitating demyelinating polyneuropathy with no approved therapies. Our primary objective was to ascertain lenalidomide safety and maximum tolerated dose (MTD) in anti-MAG neuropathy.

METHODS: This phase 1b, open-label, single-arm, dose-finding trial was conducted from 2019 through 2022. The original design included a dose-escalation/extension phase followed by a dose-expansion phase. Three doses of lenalidomide were evaluated: 10, 15, and 25 mg. The main outcome was the MTD.

RESULTS: Eleven patients enrolled (10 men), with a mean age of 67.6 years (SD = 6.18, range 58-77 years) and mean disease duration of 8.5 years (SD …

The Use Of Optical Coherence Tomography (Oct) And Oct Angiography In Borderline Personality Disorder Compared To Health Control Subjects, Bei Xu, Fangling Li, Zhejia Zhang, Qian Xiao

Faculty, Staff and Student Publications

BACKGROUND: Optical coherence tomography (OCT) or OCT angiography (OCTA) has been investigated in few research studies of psychiatric disorders. No research has been done using OCT or OCTA in patients with borderline personality disorder (BPD).

METHODS: OCTA measured foveal avascular zone (FAZ), macular vessel density (MVD), and peripapillary vessel density (PVD). OCT measured the peripapillary retinal fiber layer (RNFL) and central retinal thickness (CRT). The study utilized the Ottawa Self-Injury Inventory, Hamilton Anxiety Rating Scale (HAMA), and Global Assessment of Functioning (GAF) to assess the symptom characteristics of individuals with BPD.

RESULTS: Fifty-nine eyes of BPD patients and 58 eyes …

Risk Of Alzheimer's Disease And Related Dementias In Persons With Glaucoma: A National Cohort Study, Casey Crump, Jan Sundquist, Weiva Sieh, Kristina Sundquist

Faculty, Staff and Student Publications

PURPOSE: Glaucoma is a heterogeneous group of optic neuropathies that potentially may be associated with other cerebral neurodegenerative processes leading to dementia. However, prior studies have been inconsistent. We examined dementia risks after glaucoma diagnosis in a large population-based cohort.

DESIGN: National matched cohort study.

PARTICIPANTS: A total of 324 730 persons diagnosed with glaucoma during 1995-2017 in Sweden and 3 247 300 age- and sex-matched population-based controls without prior dementia.

METHODS: Cox regression was used to compute hazard ratios (HRs) for Alzheimer's disease (AD), vascular dementia (VaD), and all-cause dementia in persons with glaucoma compared with controls, adjusting for …

Emotional, Behavioral, And Cognitive Symptom Associations With Community Participation In Chronic Traumatic Brain Injury, Shannon B Juengst, Brittany Wright, Leia Vos, Robert Perna, Michael Williams, Emily Dudek, Annalyn Demello, Zinat Taiwo, Luis Leon Novelo

Faculty, Staff and Student Publications

OBJECTIVES: To determine the association between self-reported emotional and cognitive symptoms and participation outcomes in chronic traumatic brain injury (TBI) and to explore the relative contribution of self-reported versus performance-based cognition to participation outcomes.

SETTING: Community.

PARTICIPANTS: Community-dwelling adults ( n = 135) with a lifetime history of mild to severe TBI.

DESIGN: Secondary analysis of a cross-sectional study on neurobehavioral symptoms in chronic TBI.

MAIN MEASURES: Behavioral Assessment Screening Tool (BAST) (Negative Affect, Fatigue, Executive Dysfunction, Impulsivity, Substance Abuse subscales) measured self-reported neurobehavioral symptoms; Participation Assessment with Recombined Tools (Productivity, Social Relations, and Out and About) measured self-reported participation …

The Relationship Of Health Literacy To Health Outcomes Among Individuals With Traumatic Brain Injury: A Traumatic Brain Injury Model Systems Study, Monique R Pappadis, Angelle M Sander, Shannon B Juengst, Luis Leon-Novelo, Esther Ngan, Kathleen R Bell, John D Corrigan, Simon Driver, Laura E Dreer, Anthony H Lequerica

Faculty, Staff and Student Publications

OBJECTIVE: To examine the associations between health literacy and health outcomes among individuals with traumatic brain injury (TBI) at least a year post-injury.

SETTING: Community following discharge from inpatient rehabilitation.

PARTICIPANTS: A total of 205 individuals with complicated mild to severe TBI who completed a TBI Model Systems National Database follow-up interview and a web-based health literacy measure.

DESIGN: A multicenter, cross-sectional, observational study.

MAIN MEASURES: The Health Literacy Assessment Using Talking Touchscreen Technology (Health LiTT), number of comorbid conditions (Medical and Mental Health Comorbidities Interview [MMHCI]), perceived physical and mental health (PROMIS Global Physical and Mental Health subscales), Patient …

Association Of Timely Comprehensive Genomic Profiling With Precision Oncology Treatment Use And Patient Outcomes In Advanced Non-Small-Cell Lung Cancer, Jeff Yorio, Katherine T Lofgren, Jessica K Lee, Khaled Tolba, Geoffrey R Oxnard, Alexa B Schrock, Richard S P Huang, Lorraine Brisbin

Faculty, Staff and Student Publications

PURPOSE: Timely biomarker testing remains out of reach for many patients with advanced non-small-cell lung cancer (aNSCLC). Here, we studied the quality-of-care implications of closing the gap in timely receipt of comprehensive genomic profiling (CGP) to inform first-line (1L) decisions.

METHODS: Using a real-world clinicogenomic database, we studied testing and 1L treatment patterns in aNSCLC after the approval of pembrolizumab in combination with pemetrexed and carboplatin (May 10, 2017). To estimate the association of timely CGP results with therapy selection and patient outcomes, we identified patients with no previous genomic testing beyond PD-L1 immunohistochemistry and dichotomized patients by whether CGP …

A Clinical Practice Guideline For The Management Of Patients With Acute Spinal Cord Injury: Recommendations On Hemodynamic Management, Brian K Kwon, Lindsay A Tetreault, Allan R Martin, Paul M Arnold, Rex A W Marco, Virginia F J Newcombe, Carl M Zipser, Stephen L Mckenna, Radha Korupolu, Chris J Neal, Rajiv Saigal, Nina E Glass, Sam Douglas, Mario Ganau, Vafa Rahimi-Movaghar, James S Harrop, Bizhan Aarabi, Jefferson R Wilson, Nathan Evaniew, Andrea C Skelly, Michael G Fehlings

Faculty, Staff and Student Publications

STUDY DESIGN: Clinical practice guideline development following the GRADE process.

OBJECTIVES: Hemodynamic management is one of the only available treatment options that likely improves neurologic outcomes in patients with acute traumatic spinal cord injury (SCI). Augmenting mean arterial pressure (MAP) aims to improve blood perfusion and oxygen delivery to the injured spinal cord in order to minimize secondary ischemic damage to neural tissue. The objective of this guideline was to update the 2013 AANS/CNS recommendations on the hemodynamic management of patients with acute traumatic SCI, acknowledging that much has been published in this area since its publication. Specifically, we sought …

First Pass Effect As An Independent Predictor Of Functional Outcomes In Medium Vessel Occlusions: An Analysis Of An International Multicenter Study, Răzvan Alexandru Radu, Vincent Costalat, Robert Fahed, Sherief Ghozy, James E Siegler, Hamza Shaikh, Jane Khalife, Mohamad Abdalkader, Piers Klein, Thanh N Nguyen, Jeremy J Heit, Ahmad Sweid, Kareem El Naamani, Robert W Regenhardt, Jose Danilo Bengzon Diestro, Nicole M Cancelliere, Abdelaziz Amllay, Lukas Meyer, Anne Dusart, Flavio Bellante, Géraud Forestier, Aymeric Rouchaud, Suzana Saleme, Charbel Mounayer, Jens Fiehler, Anna Luisa Kühn, Ajit S Puri, Christian Dyzmann, Peter T Kan, Marco Colasurdo, Gaultier Marnat, Jérôme Berge, Xavier Barreau, Igor Sibon, Simona Nedelcu, Nils Henninger, Maéva Kyheng, Thomas R Marotta, Christopher J Stapleton, James D Rabinov, Takahiro Ota, Shogo Dofuku, Leonard Ll Yeo, Benjamin Yq Tan, Juan Carlos Martinez-Gutierrez, Sergio Salazar-Marioni, Sunil Sheth, Leonardo Renieri, Carolina Capirossi, Ashkan Mowla, Stavropoula I Tjoumakaris, Pascal Jabbour, Priyank Khandelwal, Arundhati Biswas, Frédéric Clarençon, Mahmoud Elhorany, Kevin Premat, Iacopo Valente, Alessandro Pedicelli, João Pedro Filipe, Ricardo Varela, Miguel Quintero-Consuegra, Nestor R Gonzalez, Markus A Möhlenbruch, Jessica Jesser, Illario Tancredi, Adrien Ter Schiphorst, Vivek Yedavalli, Pablo Harker, Lina M Chervak, Yasmin Aziz, Benjamin Gory, Christian Paul Stracke, Constantin Hecker, Monika Killer-Oberpfalzer, Christoph J Griessenauer, Ajith J Thomas, Cheng-Yang Hsieh, David S Liebeskind, Andrea M Alexandre, Tobias D Faizy, Charlotte Weyland, Aman B Patel, Vitor Mendes Pereira, Boris Lubicz, Adam A Dmytriw, Adrien Guenego

Faculty, Staff and Student Publications

Introduction: First pass effect (FPE), achievement of complete recanalization (mTICI 2c/3) with a single pass, is a significant predictor of favorable outcomes for endovascular treatment (EVT) in large vessel occlusion stroke (LVO). However, data concerning the impact on functional outcomes and predictors of FPE in medium vessel occlusions (MeVO) are scarce.

Patients and methods: We conducted an international retrospective study on MeVO cases. Multivariable logistic modeling was used to establish independent predictors of FPE. Clinical and safety outcomes were compared between the two study groups (FPE vs non-FPE) using logistic regression models. Good outcome was defined as modified Rankin Scale …

Education Research: Epilepsy Monitoring Unit Staff Education Using A High-Fidelity Manikin: A Pre-Post Intervention Study, John R Mclaren, Fábio A Nascimento, Joshua Chakranarayan, Marcia Olandoski, Poornachand Veerapaneni, Jay R Gavvala

Faculty, Staff and Student Publications

Background and objectives: Given the inherent risks of seizure provocation in the epilepsy monitoring unit (EMU), both miscommunication and incomplete training about the importance of when and why certain measures are taken can cause critical gaps in care for patients in an especially vulnerable state. To provide a framework that would help minimize these potential pitfalls, our objectives were 2-fold: (1) identify deficits in EMU safety and assessment using a checklist of predetermined items, including key measures essential to the care of EMU patients and (2) develop a simulation training program to address these deficits with education for staff on …

Imaging Predictors Of 4q12 Amplified And Rb1 Mutated Glioblastoma Idh-Wildtype, Antonio Dono, Jose Torres, Luis Nunez, Octavio Arevalo, Juan Carlos Rodriguez-Quinteros, Roy F Riascos, Arash Kamali, Nitin Tandon, Leomar Y Ballester, Yoshua Esquenazi

Faculty, Staff and Student Publications

Introduction: Recent studies have identified that glioblastoma IDH-wildtype consists of different molecular subgroups with distinct prognoses. In order to accurately describe and classify gliomas, the Visually AcceSAble Rembrandt Images (VASARI) system was developed. The goal of this study was to evaluate the VASARI characteristics in molecular subgroups of IDH-wildtype glioblastoma.

Methods: A retrospective analysis of glioblastoma IDH- wildtype with comprehensive next-generation sequencing and pre-operative and post-operative MRI was performed. VASARI characteristics and 205 genes were evaluated. Multiple comparison adjustment by the Bejamin-Hochberg false discovery rate (BH-FDR) was performed. A 1:3 propensity score match (PSM) with a Caliper of 0.2 was …

Interventions To Optimize Spinal Cord Perfusion In Patients With Acute Traumatic Spinal Cord Injury: An Updated Systematic Review, Nathan Evaniew, Benjamin Davies, Farzin Farahbakhsh, Michael G Fehlings, Mario Ganau, Daniel Graves, James D Guest, Radha Korupolu, Allan R Martin, Stephen L Mckenna, Lindsay A Tetreault, Aditya Vedantam, Erika D Brodt, Andrea C Skelly, Brian K Kwon

Faculty, Staff and Student Publications

STUDY DESIGN: Systematic review update.

OBJECTIVES: Interventions that aim to optimize spinal cord perfusion are thought to play an important role in minimizing secondary ischemic damage and improving outcomes in patients with acute traumatic spinal cord injuries (SCIs). However, exactly how to optimize spinal cord perfusion and enhance neurologic recovery remains controversial. We performed an update of a recent systematic review (Evaniew et al, J. Neurotrauma 2020) to evaluate the effects of Mean Arterial Pressure (MAP) support or Spinal Cord Perfusion Pressure (SCPP) support on neurological recovery and rates of adverse events among patients with acute traumatic SCI.

METHODS: We …

Techniques In Medicine: Ipsilateral Transforaminal Epidural Steroid Injection In Bertolotti’S Syndrome, Peter D Vu, Christopher L Robinson, Omar Viswanath, Ivan Urits, Jamal Hasoon

Faculty, Staff and Student Publications

Bertolotti's syndrome, also known as lumbosacral transitional vertebrae, is a relatively rare spinal condition characterized by an anatomical variation in the lower spine. Conservative approaches such as physical therapy, anti-inflammatory medications and lifestyle modifications may be recommended for mild cases. In more severe cases or when conservative measures fail to provide relief, injections such as may be considered to alleviate pain. This case is unique in that we document a challenging technique of ipsilateral transforaminal epidural steroid injection in a patient with Bertolotti's syndrome.

Heterozygous Map3k20 Variants Cause Ectodermal Dysplasia, Craniosynostosis, Sensorineural Hearing Loss, And Limb Anomalies, Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa Osei-Owusu, Heidi L Rehm, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio F Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, Undiagnosed Diseases Network, Seema Lalani, Jill A Rosenfeld, Lindsay C Burrage

Faculty, Staff and Students Publications

Biallelic pathogenic variants in MAP3K20, which encodes a mitogen-activated protein kinase, are a rare cause of split-hand foot malformation (SHFM), hearing loss, and nail abnormalities or congenital myopathy. However, heterozygous variants in this gene have not been definitively associated with a phenotype. Here, we describe the phenotypic spectrum associated with heterozygous de novo variants in the linker region between the kinase domain and leucine zipper domain of MAP3K20. We report five individuals with diverse clinical features, including craniosynostosis, limb anomalies, sensorineural hearing loss, and ectodermal dysplasia-like phenotypes who have heterozygous de novo variants in this specific region of the gene. …

Bi-Allelic Variants In Celsr3 Are Implicated In Central Nervous System And Urinary Tract Anomalies, Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim Mcbride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, Tudp Consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J Olson, Eric W Klee, Brendan C Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L Cohen, Kacie Riley, Victoria Klee, Laurence E Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon Van Slegtenhorst, Tahsin Stefan Barakat, Maureen S Mulhern, Tristan T Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S Woolf, Jennifer E Posey, James R Lupski, Benjamin Odermatt, Alina C Hilger

Faculty, Staff and Students Publications

CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12). Computational simulation of the 3D protein structure suggests the position of the identified variants to be implicated in penetrance and phenotype expression. CELSR3 immunolocalization in human embryonic urinary tract and transient suppression and rescue experiments of Celsr3 in fluorescent zebrafish reporter lines further support an …

Novel Avenues Of Tau Research, Claire E Sexton, Gal Bitan, Kathryn R Bowles, Miroslaw Brys, Luc Buée, Mahmoud Bukar Maina, Claire D Clelland, Ann D Cohen, John F Crary, Jeffrey L Dage, Kristophe Diaz, Bess Frost, Li Gan, Alison M Goate, Lawrence I Golbe, Oskar Hansson, Celeste M Karch, Hartmuth C Kolb, Renaud La Joie, Suzee E Lee, Diana Matallana, Bruce L Miller, Chiadi U Onyike, Yakeel T Quiroz, Jessica E Rexach, Jonathan D Rohrer, Amy Rommel, Ghazaleh Sadri-Vakili, Suzanne E Schindler, Julie A Schneider, Reisa A Sperling, Charlotte E Teunissen, Stacie C Weninger, Susan L Worley, Hui Zheng, Maria C Carrillo

Faculty, Staff and Students Publications

INTRODUCTION: The pace of innovation has accelerated in virtually every area of tau research in just the past few years.

METHODS: In February 2022, leading international tau experts convened to share selected highlights of this work during Tau 2022, the second international tau conference co-organized and co-sponsored by the Alzheimer's Association, CurePSP, and the Rainwater Charitable Foundation.

RESULTS: Representing academia, industry, and the philanthropic sector, presenters joined more than 1700 registered attendees from 59 countries, spanning six continents, to share recent advances and exciting new directions in tau research.

DISCUSSION: The virtual meeting provided an opportunity to foster cross-sector collaboration …

Quantification And Visualization Of Cis-Regulatory Dynamics In Single-Cell Multi-Omics Data With Treasmo, Chaozhong Liu, Linhua Wang, Zhandong Liu

Faculty, Staff and Students Publications

Recent advances in single-cell multi-omics technologies have provided unprecedented insights into regulatory processes. We introduce TREASMO, a versatile Python package designed to quantify and visualize transcriptional regulatory dynamics in single-cell multi-omics datasets. TREASMO has four modules, spanning data preparation, correlation quantification, downstream analysis and visualization, enabling comprehensive dataset exploration. By introducing a novel single-cell gene-peak correlation strength index, TREASMO facilitates accurate identification of regulatory changes at single-cell resolution. Validation on a hematopoietic stem and progenitor cell dataset showcases TREASMO's capacity in quantifying the gene-peak correlation strength at the single-cell level, identifying regulatory markers and discovering temporal regulatory patterns along the …