Neurology Commons^™

Linkage, Whole Genome Sequence, And Biological Data Implicate Variants In Rab10 In Alzheimer's Disease Resilience., Perry G Ridge, Celeste M Karch, Simon Hsu, Ivan Arano, Craig C Teerlink, Mark T W Ebbert, Josue D Gonzalez Murcia, James M Farnham, Anna R Damato, Mariet Allen, Xue Wang, Oscar Harari, Victoria M Fernandez, Rita Guerreiro, Jose Bras, John Hardy, Ronald Munger, Maria Norton, Celeste Sassi, Andrew Singleton, Steven G Younkin, Dennis W Dickson, Todd E Golde, Nathan D Price, Nilüfer Ertekin-Taner, Carlos Cruchaga, Alison M Goate, Christopher Corcoran, Joann Tschanz, Lisa A Cannon-Albright, John S K Kauwe

Articles, Abstracts, and Reports

BACKGROUND: While age and the APOE ε4 allele are major risk factors for Alzheimer's disease (AD), a small percentage of individuals with these risk factors exhibit AD resilience by living well beyond 75 years of age without any clinical symptoms of cognitive decline.

METHODS: We used over 200 "AD resilient" individuals and an innovative, pedigree-based approach to identify genetic variants that segregate with AD resilience. First, we performed linkage analyses in pedigrees with resilient individuals and a statistical excess of AD deaths. Second, we used whole genome sequences to identify candidate SNPs in significant linkage regions. Third, we replicated SNPs …

Advancing Stroke Genomic Research In The Age Of Trans-Omics Big Data Science: Emerging Priorities And Opportunities, Mayowa Owolabi, Emmanuel Peprah, Huichun Xu, Rufus Akinyemi, Hemant K. Tiwari, Marguerite R. Irvin, Kolawole Wasiu Wahab, Donna K. Arnett, Bruce Ovbiagele

Epidemiology and Environmental Health Faculty Publications

Background—We systematically reviewed the genetic variants associated with stroke in genome-wide association studies (GWAS) and examined the emerging priorities and opportunities for rapidly advancing stroke research in the era of Trans-Omics science.

Methods—Using the PRISMA guideline, we searched PubMed and NHGRI- EBI GWAS catalog for stroke studies from 2007 till May 2017.

Results—We included 31 studies. The major challenge is that the few validated variants could not account for the full genetic risk of stroke and have not been translated for clinical use. None of the studies included continental Africans. Genomic study of stroke among Africans presents …

Niemann-Pick Type C Disease, Sameh Morkous Md, Faan

Department of Pediatrics

No abstract provided.

Cortical Contribution To Linear, Non-Linear And Frequency Components Of Motor Variability Control During Standing, Niklas König Ignasiak

Physical Therapy Faculty Articles and Research

Motor variability is an inherent feature of all human movements and reflects the quality of functional task performance. Depending on the requirements of the motor task, the human sensory-motor system is thought to be able to flexibly govern the appropriate level of variability. However, it remains unclear which neurophysiological structures are responsible for the control of motor variability. In this study, we tested the contribution of cortical cognitive resources on the control of motor variability (in this case postural sway) using a dual-task paradigm and furthermore observed potential changes in control strategy by evaluating Ia-afferent integration (H-reflex). Twenty healthy subjects …

Volition And Action In The Human Brain: Processes, Pathologies, And Reasons, Itzhak Fried, Patrick Haggard, Biyu J. He, Aaron Schurger

Psychology Faculty Articles and Research

Humans seem to decide for themselves what to do, and when to do it. This distinctive capacity may emerge from an ability, shared with other animals, to make decisions for action that are related to future goals, or at least free from the constraints of immediate environmental inputs. Studying such volitional acts proves a major challenge for neuroscience. This review highlights key mechanisms in the generation of voluntary, as opposed to stimulus-driven actions, and highlights three issues. The first part focuses on the apparent spontaneity of voluntary action. The second part focuses on one of the most distinctive, but elusive, …

Piercing Of The Lumbocostal Ligament By The Subcostal Nerve: A Previously Unreported Case., Marc Vetter, Joe Iwanaga, Rod J Oskouian, R Shane Tubbs

Articles, Abstracts, and Reports

As lateral approaches gain popularity in lumbar spine surgery, detailed discussions regarding anatomical variations in the innervation of the thoracolumbar region are of increasing importance. Damage to intercostal or subcostal nerves can lead to post-operative complications including regional loss of sensitivity, motor function, or abdominal wall hernias. More specifically, the subcostal nerve has been identified in the literature as one of the more vulnerable structures during such procedures. A clear understanding of the position of the subcostal nerve relative to nearby anatomical structures is therefore important for medical professionals. We herein report a rare anatomical variation in which the subcostal …

Generation Of A Patient-Derived Brain Metastasis Breast Cancer Cell Line Via Novel Orthotopic Injection Placement And Serial Mouse Transplantation To Develop Pdx Mouse Model, Amber L. Lacrosse, Denise M. Coley, Paul J. Mintz, Santhi D. Konduri, Richard A. Rovin, Amin B. Kassam

Journal of Patient-Centered Research and Reviews

Background: The incidence of brain metastasis appears to be increasing, potentially due to advanced technology that aids early diagnosis. Patient-derived xenografts (PDX) have high translational value, as these models retain key functional characteristics of the patient tumor. PDX models are useful to understand the molecular basis of tumorigenesis and to identify new treatment targets. However, generating a first-line PDX model is challenging as engraftment failure is high. Serial transplanting tumor tissue via mouse-to-mouse propagation increases engraftment rates and decreases PDX development time. Herein we report methods to generate a PDX cell line from patient-derived tumor tissue that includes the cerebral …

Brain Imaging In Older Patients With Delirium, Laila M. Hasan, Ariba Khan, Maharaj Singh, Michael L. Malone

Journal of Patient-Centered Research and Reviews

Background: Delirium is a common, serious and costly condition in older patients admitted to the hospital. This study describes the prevalence and results of brain imaging among a cohort of older hospitalized patients with and without delirium.

Purpose: Investigate the frequency and results of brain imaging in older patients with delirium as compared to those without delirium.

Methods: This was a cross-sectional study. Data were collected on hospitalized patients age 65 years or older who were admitted to 3 hospitals in Milwaukee, Wisconsin, during a 1-month period in the fall of 2013. Subjects were tested for delirium via the “Confusion …

Reading Between The Joints-Using Spinal Magnetic Resonance Imaging For Evaluation Of Instability, Komal Naeem, S. Ather Enam

Section of Neurosurgery

No abstract provided.

Comparison Between Endoscopic And Microscopic Approaches For Surgery Of Pituitary Tumours, Inamullah Khan, Muhammad Shahzad Shamim

Section of Neurosurgery

Surgical techniques for resection of pituitary tumours have come a long way since it was first introduced in late 18th century. Nowadays, most pituitary surgeries are performed through trans-nasal trans-sphenoidal approach either using a microscope, or an endoscope. Herein the authors review the literature and compare these two instruments with regards to their outcomes when used for resection of pituitary tumours. .

Targeting Mitoneet With Pioglitazone For Therapeutic Neuroprotection After Spinal Cord Injury, Alexander G. Rabchevsky, Samir P. Patel, Patrick G. Sullivan

Spinal Cord and Brain Injury Research Center Faculty Publications

No abstract provided.

Chronic Traumatic Encephalopathy-Integration Of Canonical Traumatic Brain Injury Secondary Injury Mechanisms With Tau Pathology, Jacqueline R. Kulbe, Edward D. Hall

Spinal Cord and Brain Injury Research Center Faculty Publications

In recent years, a new neurodegenerative tauopathy labeled Chronic Traumatic Encephalopathy (CTE), has been identified that is believed to be primarily a sequela of repeated mild traumatic brain injury (TBI), often referred to as concussion, that occurs in athletes participating in contact sports (e.g. boxing, football, football, rugby, soccer, ice hockey) or in military combatants, especially after blast-induced injuries. Since the identification of CTE, and its neuropathological finding of deposits of hyperphosphorylated tau protein, mechanistic attention has been on lumping the disorder together with various other non-traumatic neurodegenerative tauopathies. Indeed, brains from suspected CTE cases that have come to autopsy …

Linking Tuberous Sclerosis Complex, Excessive Mtor Signaling, And Age-Related Neurodegeneration: A New Association Between Tsc1 Mutation And Frontotemporal Dementia, Nicholas T. Olney, Carolina Alquezar, Eliana Marisa Ramos, Alissa L. Nana, Jamie C. Fong, Anna M. Karydas, Joanne B Taylor, Melanie L. Stephens, Andrea R. Argouarch, Victoria A. Van Berlo, Deepika R. Dokuru, Elliott H. Sherr, Gregory A. Jicha, William P. Dillon, Rahul S. Desikan, Mary De May, William W. Seeley, Giovanni Coppola, Bruce L. Miller, Aimee W. Kao

Neurology Faculty Publications

No abstract provided.

Bimodal Coupling Of Ripples And Slower Oscillations During Sleep In Patients With Focal Epilepsy., Inkyung Song, Iren Orosz, Inna Chervoneva, Zachary J. Waldman, Itzhak Fried, Chengyuan Wu, Ashwini Sharan, Noriko Salamon, Richard Gorniak, Sandra Dewar, Anatol Bragin, Jerome Engel, Michael R. Sperling, Richard Staba, Shennan A. Weiss

Department of Neurology Faculty Papers

OBJECTIVE: Differentiating pathologic and physiologic high-frequency oscillations (HFOs) is challenging. In patients with focal epilepsy, HFOs occur during the transitional periods between the up and down state of slow waves. The preferred phase angles of this form of phase-event amplitude coupling are bimodally distributed, and the ripples (80-150 Hz) that occur during the up-down transition more often occur in the seizure-onset zone (SOZ). We investigated if bimodal ripple coupling was also evident for faster sleep oscillations, and could identify the SOZ.

METHODS: Using an automated ripple detector, we identified ripple events in 40-60 min intracranial electroencephalography (iEEG) recordings from 23 …

Pattern Of Neurological Diseases In Adult Outpatient Neurology Clinics In Tertiary Care Hospital, Safia Awan, Saad Shafqat, Ayeesha Kamran Kamal, Aziz Sonawalla, Sarwar Jamil Siddiqui, Fowzia Siddiqui, Mohammad Wasay

Section of Neurology

Objectives: The burden of neurological diseases in developing countries is rising although little is known about the epidemiology and clinical pattern of neurological disorders. The objective of this study was to understand the burden of disease faced by neurologists a in tertiary care setting.

Results: A prospective observational study was conducted of all presentations to neurology clinics at Aga Khan University Hospital Karachi over a period of 2 years. A total of 16,371 out-patients with neurological diseases were seen during the study period. The mean age of the study participants were 46.2 ± 18.3 years and 8508 (52%) were male. …

Ischaemic Pituitary Tumour Apoplexy And Concurrent Meningitis: A Diagnostic Dilemma, Haris Hakeem, Shayan Sirat Maheen Anwar,, Sarwar Jamil Siddiqui

Section of Neurology

Pituitary tumour apoplexy is a rare but potentially life threatening clinical syndrome that mostly results from haemorrhage in the pre-existent tumour. Pure ischaemic subtype of apoplexy is even rarer. The presentation can be hard to differentiate clinically from bacterial meningitis. Moreover, the presence of one does not necessarily exclude the other and early diagnosis of both conditions is imperative for timely management. We report a case of ischaemic pituitary tumour apoplexy that may have precipitated in the setting of bacterial meningitis.

Hidden Blood Loss Between Pccp And Pfna In Elderly Femoral Intertrochanteric Fracture, Tao Ding, Huilin Yang, James Harrop, Xiaofeng Gu, Dehong Feng, Yafeng Zhang, Fan Zhan Zhang, Yuntao Xue

Department of Neurosurgery Faculty Papers

To compare perioperative hidden blood loss in the treatment of femoral intertrochanteric fractures with percutaneous compression plate (PCCP) and proximal femoral nail anti-rotation (PFNA) in elderly patients, and analyse its influencing factors in order to provide the necessary data support for clinical perioperative treatment, and choice of appropriate internal fixation method. Retrospective analyses was carried out on data obtained from 158 patients with intertrochanteric fracture treated with PCCP or PFNA from January 2010 to May 2017. Data were obtained from variables such as age, gender, height, weight, operative bleeding and postoperative drainage, operation time, etc. Upon blood routine examination before …

Spectrophotometric Analysis Of Thrombolytic Activity: Sata Assay, Masumeh Zamanlu, Morteza Eskandani, Reza Mohammadian, Nazila Entekhabi, Mohammad Rafi, Mehdi Farhoudi

Department of Neurology Faculty Papers

Introduction: Measurement of thrombolytic activity i.e. clot lysis is crucial for research and development of novel thrombolytics. It is also a key factor in assessment of the effectiveness of conventionally used thrombolytic agents in the clinic, which are the choice effective therapies for myocardial infarction and ischemic stroke. Previous methods used for the assessment of thrombolytic activity are often associated with some drawbacks such as being costly, time-consuming, complication and low accuracy. Here, we introduce a simple, economic, relatively accurate and fast method of spectrophotometric analysis of thrombolytic activity (SATA) assay, standardized by tissue plasminogen activator (tPA), which can quantitatively …

Absence Of The Lumbosacral Trunk., Cameron K Schmidt, Joe Iwanaga, Emre Yilmaz, Charlotte Wilson, Rod J Oskouian, R Shane Tubbs

Articles, Abstracts, and Reports

The lumbosacral trunk, typically comprised of part of the fourth lumbar ventral rami and the entirety of the fifth lumbar ventral rami, serves as a connection between the lumbar and sacral plexuses. Developmental differences underlie the variable relative contributions of L4 and L5 to the lumbosacral trunk. Herein, we report a rare case in which dissection of an adult male cadaver revealed no L4 contribution to the lumbosacral plexus. We discuss the surgical and clinical implications of such an anatomic variation.

An Adult With Polyneuropathy And Hypogonadism Due To Poems Syndrome, Saba Zaidi, Sidra Sattar, Bhojo A Khealani

Section of Neurology

POEMS (acronym for polyneuropathy, organomegaly, endocrinopathy, M protein myeloma and skin changes), is a rare disease which occurs in the setting of plasma cell dyscrasias. We describe a case of an adult lady who presented with gradual onset weakness of all four limbs and multisystem involvement characterized by pedal edema, ascites, hyperpigmentation and hypogonadism. Nerve conduction study showed severe sensorimotor polyneuropathy. Serum immunofixation showed lambda light chain restricted monoclonal gammopathy. Bone marrow biopsy consistent with plasma cell dyscrasia. Hormonal assay showed decreased FSH, LH and estradiol levels which led us to diagnosis of hypogonadotrophic hypogonadism. The patient responded well to …