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https://www.readbyqxmd.com/read/28742910/clinicopathological-evaluation-of-chronic-traumatic-encephalopathy-in-players-of-american-football
#1
Jesse Mez, Daniel H Daneshvar, Patrick T Kiernan, Bobak Abdolmohammadi, Victor E Alvarez, Bertrand R Huber, Michael L Alosco, Todd M Solomon, Christopher J Nowinski, Lisa McHale, Kerry A Cormier, Caroline A Kubilus, Brett M Martin, Lauren Murphy, Christine M Baugh, Phillip H Montenigro, Christine E Chaisson, Yorghos Tripodis, Neil W Kowall, Jennifer Weuve, Michael D McClean, Robert C Cantu, Lee E Goldstein, Douglas I Katz, Robert A Stern, Thor D Stein, Ann C McKee
Importance: Players of American football may be at increased risk of long-term neurological conditions, particularly chronic traumatic encephalopathy (CTE). Objective: To determine the neuropathological and clinical features of deceased football players with CTE. Design, Setting, and Participants: Case series of 202 football players whose brains were donated for research. Neuropathological evaluations and retrospective telephone clinical assessments (including head trauma history) with informants were performed blinded...
July 25, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28742507/severe-neurological-abnormalities-in-a-young-boy-with-impaired-thyroid-hormone-sensitivity-due-to-a-novel-mutation-in-the-mct8-gene
#2
Teresa Rego, Carmen Gomez Lado, Paloma Cabanas Rodríguez, Francisco Sousa Santos, Francisco Barros Angueira, Lidia Castro-Feijóo, Jesús Barreiro Conde, Manuel Castro-Gago
Monocarboxylate transporter 8 (MCT8) is an active and specific thyroid hormone transporter into neurons. MCT8 mutations cause an X-linked condition known as Allan-Herndon-Dudley syndrome and are characterized by impaired psychomotor development and typical abnormal thyroid function. We describe a 10-year-old boy with severe cognitive disability, axial hypotonia, spastic quadriplegia and sporadic dyskinetic episodes. He initially presented with thyroid dysfunction (high FT3, low rT3, low FT4 and normal TSH) and generalized retardation of the cerebral and cerebellar myelination in brain magnetic resonance imaging...
April 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28742397/morbidity-in-the-mountainous-province-of-kyrgyzstan-results-from-a-population-based-cross-sectional-study
#3
Nurlan Brimkulov, Louis Louton, Salima Sydykova, Denis Vinnikov, Farida Imanalieva
Brimkulov, Nurlan, Louis Louton, Salima Sydykova, Denis Vinnikov, and Farida Imanalieva. Morbidity in the mountainous Province of Kyrgyzstan: results from a population-based cross-sectional study. High Alt Med Biol 00:000-000, 2017.-The aim of this study was to identify the main causes of using primary care facilities in the mountainous Naryn Province of Kyrgyzstan to set resources allocation priorities. We collected data on all admissions to family doctors in three Family Medical Centers (FMCs) in Naryn Province: (1) the city of Naryn (2200 meters above sea level [MASL]); (2) the town of At-Bashy (3200 MASL); and the town of Kochkor (1800 MASL) by using an original questionnaire during one full week (5 days) in spring 2016...
July 25, 2017: High Altitude Medicine & Biology
https://www.readbyqxmd.com/read/28742192/significance-of-interleukin-and-matrix-metalloproteinase-in-patients-with-cognitive-dysfunction-after-single-valve-replacement
#4
H-Y Guo
OBJECTIVE: To investigate the changes in serum neurological function parameters, interleukin (IL) and matrix metalloproteinase (MMP) in patients with cognitive dysfunction after single valve replacement. PATIENTS AND METHODS: 51 cases of senile patients with cognitive dysfunction after general anesthesia were selected as the observation group, and 51 senile patients without cognitive dysfunction after general anesthesia were selected as the control group. Serum neurological function parameters and IL and MMP levels were examined and compared between the two groups...
July 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28742085/clinically-severe-cacna1a-alleles-affect-synaptic-function-and-neurodegeneration-differentially
#5
Xi Luo, Jill A Rosenfeld, Shinya Yamamoto, Tamar Harel, Zhongyuan Zuo, Melissa Hall, Klaas Wierenga, Matthew T Pastore, Dennis Bartholomew, Mauricio R Delgado, Joshua Rotenberg, Richard Alan Lewis, Lisa Emrick, Carlos A Bacino, Mohammad K Eldomery, Zeynep Coban Akdemir, Fan Xia, Yaping Yang, Seema R Lalani, Timothy Lotze, James R Lupski, Brendan Lee, Hugo J Bellen, Michael F Wangler
Dominant mutations in CACNA1A, encoding the α-1A subunit of the neuronal P/Q type voltage-dependent Ca2+ channel, can cause diverse neurological phenotypes. Rare cases of markedly severe early onset developmental delay and congenital ataxia can be due to de novo CACNA1A missense alleles, with variants affecting the S4 transmembrane segments of the channel, some of which are reported to be loss-of-function. Exome sequencing in five individuals with severe early onset ataxia identified one novel variant (p.R1673P), in a girl with global developmental delay and progressive cerebellar atrophy, and a recurrent, de novo p...
July 24, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28742013/first-canadian-experience-with-donation-after-cardiac-death-simultaneous-pancreas-and-kidney-transplants
#6
Patrick T Anderson, Shahid Aquil, Kelly McLean, Vivian C McAlister, Alp Sener, Patrick P Luke
BACKGROUND: Compared with neurologic determination of death (NDD) donor organs, donation after cardiac death (DCD) donor organs have traditionally been considered of inferior quality owing to warm ischemia experienced during procurement. We present, to our knowledge, the first analysis of simultaneous pancreas and kidney (SPK) transplants using DCD donor organs in Canada. METHODS: We carried out a retrospective cohort study of SPK transplants from 13 DCD and 68 NDD donors performed between October 2008 and July 2016...
August 1, 2017: Canadian Journal of Surgery. Journal Canadien de Chirurgie
https://www.readbyqxmd.com/read/28741323/-osteosynthesis-with-locking-plate-and-minimally-invasive-technique-for-proximal-humeral-fractures
#7
C Arroyo-Sánchez, C Abril-Gaona, D Rincón-Cardozo
OBJECTIVE: To report our experience in the treatment of 2-3 fragment proximal humeral fractures using a minimally invasive technique that involves an angular-stable locking implant and find out the factors affecting patients outcomes. MATERIAL AND METHODS: Descriptive, prospective study of the case series type. Twenty-two patients, 13 females and 9 males, were operated on between February 2010 and August 2012. Mean age was 50.8 years (24-82 years). Patients were placed in a beach-chair position...
January 2017: Acta Ortopédica Mexicana
https://www.readbyqxmd.com/read/28741148/simultaneous-navigated-cervico-thoracic-and-thoraco-lumbar-fixation
#8
Krunal Patel, Tamara Tajsic, Karol P Budohoski, Mathew R Guilfoyle, Rikin A Trivedi
STUDY DESIGN: Case report. OBJECTIVE: To investigate the feasibility of using two independent image guidance systems to simultaneously fix multiple segment spine fractures. Image guidance is increasingly used to aid spinal fixation. We describe the first use of multiple navigation systems during a single procedure allowing for multi-segment spinal fixations to be performed simultaneously and capitalizing the advantages of navigation. METHOD: Two Medtronic Stealth Station S7™ systems with O-arm image capture were used to guide fixation of C6 and T12, unstable, AO A4, three-column fractures, in a patient with ankylosing spondylitis...
July 24, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28741102/the-range-of-neurological-complications-in-chikungunya-fever
#9
T Cerny, M Schwarz, U Schwarz, J Lemant, P Gérardin, E Keller
BACKGROUND: Chikungunya fever is a globally spreading mosquito-borne disease that shows an unexpected neurovirulence. Even though the neurological complications have been a major cause of intensive care unit admission and death, to date, there is no systematic analysis of their spectrum available. OBJECTIVE: To review evidence of neurological manifestations in Chikungunya fever and map their epidemiology, clinical spectrum, pathomechanisms, diagnostics, therapies and outcomes...
May 25, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/28741029/subtrochanteric-femoral-shortening-osteotomy-combined-with-cementless-total-hip-replacement-for-crowe-type-iv-developmental-dysplasia-a-retrospective-study
#10
Giuseppe Rollo, Giuseppe Solarino, Giovanni Vicenti, Girolamo Picca, Massimiliano Carrozzo, Biagio Moretti
BACKGROUND: Total hip replacement for high dislocation of the hip presents some difficulties, considering patients' young ages, the abnormal hip anatomy and the high rate of complications. In this study, we present our experience in terms of clinical and radiological results in the treatment of Crowe type IV hips with subtrochanteric femoral shortening osteotomy and cementless total hip replacement. MATERIALS AND METHODS: We retrospectively reviewed 15 patients with Crowe type IV hip dysplasia (two bilateral cases for a total of 17 hips) treated with cementless total hip replacement associated with shortening subtrochanteric osteotomies (nine transversal and eight Z-shape osteotomies) between March 2000 to February 2006...
July 24, 2017: Journal of Orthopaedics and Traumatology: Official Journal of the Italian Society of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/28740841/migrainous-infarction-a-rare-and-often-overlooked-diagnosis
#11
REVIEW
Gabriel Afonso Dutra Kreling, Neuro Rodrigues de Almeida, Pedro José Dos Santos
Migraine is a neurological entity and a well-known independent risk factor for cerebral infarction, which mostly afflicts the young female population. Researching focal neurological signs in this subset of the population with the diagnosis of a neurological ischemic event should always take into account the migraine as the etiology or as an associated factor. The etiology of central nervous system (CNS) ischemia is considerable. Migraine, although rare, also may be included in this vast etiological range, which is called migrainous infarction...
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28740835/severe-pulmonary-hypertension-due-to-combined-pulmonary-fibrosis-and-emphysema-another-cause-of-death-among-smokers
#12
REVIEW
André Carramenha de Góes Hirano, Eduardo Pelegrineti Targueta, Fernando Peixoto Ferraz de Campos, João Augusto Dos Santos Martines, Dafne Andrade, Silvana Maria Lovisolo, Aloisio Felipe-Silva
In 2005, the combined pulmonary fibrosis and emphysema (CPFE) was first defined as a distinct entity, which comprised centrilobular or paraseptal emphysema in the upper pulmonary lobes, and fibrosis in the lower lobes accompanied by reduced diffused capacity of the lungs for carbon monoxide (DLCO). Recently, the fibrosis associated with the connective tissue disease was also included in the diagnosis of CPFE, although the exposure to tobacco, coal, welding, agrochemical compounds, and tire manufacturing are the most frequent causative agents...
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28740834/a-second-reported-malignancy-in-a-patient-with-morquio-syndrome
#13
REVIEW
Ameer Hamza, Sidrah Khawar, Ahmad Ibrahim, Jacob Edens, Crystal Lalonde, Robert D Danforth
Morquio syndrome is a rare lysosomal storage disease that affects multiple organ systems. However, it is rarely associated with malignancy. We present the case of a 30-year old man with Morquio syndrome associated with gastric adenocarcinoma. This case also demonstrates two other findings that have not been previously described in patients with Morquio syndrome - malrotation of brainstem and cerebellum, without clinical neurologic deficit, and persistence of fetal lobulation in the kidneys.
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28740483/a-case-with-spondyloenchondrodysplasia-treated-with-growth-hormone
#14
Takanori Utsumi, Satoshi Okada, Kazushi Izawa, Yoshitaka Honda, Gen Nishimura, Ryuta Nishikomori, Rika Okano, Masao Kobayashi
Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia caused by loss of function mutations in acid phosphatase 5, tartrate resistant (ACP5). Hypomorphic ACP5 mutations impair endochondral bone growth and create an interferon (INF) signature, which lead to distinctive spondylar and metaphyseal dysplasias, and extraskeletal morbidity, such as neurological involvement and immune dysregulation, respectively. We report an affected boy with novel ACP5 mutations, a splice-site mutation (736-2 A>C) and a nonsense mutation (R176X)...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28739569/normal-carboxyhaemoglobin-level-in-carbon-monoxide-poisoning-treated-with-hyperbaric-oxygen-therapy
#15
Scott A Helgeson, Michael E Wilson, Pramod K Guru
Throughout the world both intentional and inadvertent exposure to carbon monoxide (CO) remains an important public health issue. While CO poisoning can be lethal, the morbidity is predominantly due to nervous system injury. A previously healthy 22-year-old woman was found unconscious at home by her sister. Her parents were found dead in the house with a recent history of a dysfunctional furnace. She was presumed to have CO poisoning despite an initial carboxyhaemoglobin level of 2.5%. Patient had both clinical and radiological evidence of neurological damage...
July 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28739474/traumatic-subaxial-cervical-facet-subluxation-and-dislocation-epidemiology-radiographic-analyses-and-risk-factors-for-spinal-cord-injury
#16
Ryan D Quarrington, Claire F Jones, Petar Tcherveniakov, Jillian M Clark, Simon J I Sandler, Yu Chao Lee, Shabnam Torabiardakani, John J Costi, Brian J C Freeman
BACKGROUND CONTEXT: Distractive-flexion injuries (DFIs) of the subaxial cervical spine are major contributors to spinal cord injury (SCI). Prompt assessment and early intervention of DFIs associated with SCI is crucial to optimize patient outcome; however, neurological examination of patients with subaxial cervical injury is often difficult, as patients commonly present with reduced levels of consciousness. Therefore, it is important to establish potential associations between injury epidemiology and radiographic features, and neurological involvement...
July 21, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28738211/the-immunopathology-of-dengue-and-zika-virus-infections
#17
REVIEW
Abigail Culshaw, Juthathip Mongkolsapaya, Gavin R Screaton
A large proportion of the world's population live in areas with dengue virus (DENV) transmission resulting in tens of millions of symptomatic dengue cases each year. Serious complications following DENV infection occur more frequently in those suffering from a second or subsequent infection implicating virus-specific immunity as having a role in pathogenesis. In recent years outbreaks of the related Zika virus (ZIKV) have been associated with birth defects and neurological complications. As DENV and ZIKV share a viral vector sequential infections can occur...
July 21, 2017: Current Opinion in Immunology
https://www.readbyqxmd.com/read/28738127/early-onset-alzheimer-disease-and-candidate-risk-genes-involved-in-endolysosomal-transport
#18
Brian W Kunkle, Badri N Vardarajan, Adam C Naj, Patrice L Whitehead, Sophie Rolati, Susan Slifer, Regina M Carney, Michael L Cuccaro, Jeffery M Vance, John R Gilbert, Li-San Wang, Lindsay A Farrer, Christiane Reitz, Jonathan L Haines, Gary W Beecham, Eden R Martin, Gerard D Schellenberg, Richard P Mayeux, Margaret A Pericak-Vance
Importance: Mutations in APP, PSEN1, and PSEN2 lead to early-onset Alzheimer disease (EOAD) but account for only approximately 11% of EOAD overall, leaving most of the genetic risk for the most severe form of Alzheimer disease unexplained. This extreme phenotype likely harbors highly penetrant risk variants, making it primed for discovery of novel risk genes and pathways for AD. Objective: To search for rare variants contributing to the risk for EOAD. Design, Setting, and Participants: In this case-control study, whole-exome sequencing (WES) was performed in 51 non-Hispanic white (NHW) patients with EOAD (age at onset <65 years) and 19 Caribbean Hispanic families previously screened as negative for established APP, PSEN1, and PSEN2 causal variants...
July 24, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28737956/hypophonia-as-a-sign-of-thalamus-lesion-a-case-report
#19
Claudia Rodríguez-López, Blanca Ayuso García, Sara Moreno García
Hypophonia is a neurological sign usually seen after brainstem or peripheral damage, either at the recurrent laryngeal nerve or vocal cord level. However, it has been described as a sign of supratentorial strokes in a few studies, specifically when anterior and ventral thalamic involvement is reported. In addition, it is a prominent sign of other neurological disorders such as Parkinson Disease and other extrapiramidal conditions. We describe a case of hypophonia secondary to a left thalamic hemorrhage, after a careful search of other potential causes of this deficit, and we discuss the underlying neuroanatomical circuits...
July 24, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28737865/unusual-increase-of-cases-of-myelitis-in-a-pediatric-hospital-in-argentina
#20
Guadalupe Pérez, María T Rosanova, María C Freire, María I Paz, Silvina Ruvinsky, Carlos Rugilo, Víctor Ruggieri, Daniel Cisterna, Soledad Martiren, Cristina Lema, Andrea Savransky, Soledad González, Leila Martínez, Diana Viale, Rosa Bologna
INTRODUCTION: The association between enterovirus D68 and acute flaccid myelitis was first described in the United States in 2014. Since then, sporadic cases have been reported in Canada and Europe. This study describes a series of cases of acute flaccid myelitis at Hospital de Pediatría "Prof. Dr. Juan P. Garrahan," in Buenos Aires, Argentina, during 2016. METHODS: Descriptive, retrospective study. All patients with acute flaccid myelitis and lesions in the spinal cord involving the gray matter, as observed in the magnetic resonance imaging (MRI) scan, hospitalized from 04/01/2016 to 07/01/2016, were included in the study...
August 1, 2017: Archivos Argentinos de Pediatría
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