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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/28742085/clinically-severe-cacna1a-alleles-affect-synaptic-function-and-neurodegeneration-differentially
#2
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/28741323/-osteosynthesis-with-locking-plate-and-minimally-invasive-technique-for-proximal-humeral-fractures
#3
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
#4
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
#5
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/28740834/a-second-reported-malignancy-in-a-patient-with-morquio-syndrome
#6
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
#7
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/28738127/early-onset-alzheimer-disease-and-candidate-risk-genes-involved-in-endolysosomal-transport
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28737365/vim-thalamotomy-in-the-treatment-of-holmes-tremor-secondary-to-hiv-associated-midbrain-lesion-a-case-report
#11
José O Oliveira, Soraya A Jorge Cecilio, Matheus Fernandes Oliveira, Leonardo R Takahashi, Alexandro R Galassi, Vanessa M Holanda, José M Rotta
Holmes' tremor (rubral tremor, cerebellar outflow tremor) is characterized by rest, intention and postural tremor, often localized to one upper extremity, associated with ipsilateral dysmetria and dysdiadochokinesia. We describe a case of successful treatment of Holmes' tremor with unilateral nucleus ventralis intermedius (VIM) thalamotomy. The subject is a 43-year-old woman with unremarkable previous medical history. She presented with complete left hemiparesis in the context of human immunodeficiency syndrome and the magnetic resonance image disclosed a contrast-enhancing lesion in right brain peduncle, in topography of red nucleus...
October 2017: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/28737203/pain-insensitivity-in-a-child-with-a-de-novo-interstitial-deletion-of-the-long-arm-of-the-chromosome-4-case-report
#12
Marco Cascella, María Rosaria Muzio
Terminal and interstitial deletions of the distal segment of the long arm of chromosome 4 (Cr4q del) are not common genetic disorders. The severity of the phenotype is correlated with the size of the deletion because small deletions have little clinical impact, whereas large deletions are usually associated with multiple congenital anomalies, postnatal growth failure, and moderate to severe intellectual disability. Alteration in pain tolerance has not been included among these features, also in case of large deletions...
June 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28736353/sport-related-structural-brain-injury-three-cases-of-subdural-hemorrhage-in-american-high-school-football
#13
Aaron M Yengo-Kahn, Ryan M Gardner, Andrew W Kuhn, Gary S Solomon, Christopher M Bonfield, Scott L Zuckerman
BACKGROUND: The risk of sport-related concussion (SRC) has emerged as a major public health concern. In rare instances, sport-related head injuries can be even more severe, such as subdural hemorrhage, epidural hemorrhage, or malignant cerebral edema. Unlike SRCs, sport-related structural brain injury (SRSBI) is rare, may require neurosurgical intervention, and can lead to permanent neurologic deficit or death. Data characterizing SRSBI is limited and many have recognized the need to better understand these catastrophic brain injuries...
July 20, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28735126/multilevel-spinal-segmental-fixation-for-kyphotic-cervical-spinal-deformity-in-pediatric-age-group-report-of-management-in-2-cases
#14
Atul Goel, Amol Kaswa, Abhidha Shah, Arjun Dhar
OBJECTIVE: We discuss the role of instability of multiple segments of spine that includes atlantoaxial joint in pathogenesis of cervical kyphotic deformity. MATERIAL AND METHODS: Two male patients (5 and 17 year old) had severe cervical kyphosis and presented with symptoms related to myelopathy. The patients underwent multi-segmental spinal distraction and fixation that included atlantoaxial joint. No bone decompression was done. RESULTS: At a follow-up of more than 30 months, both patients had significant neurological recovery...
July 19, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28734809/-severe-poisoning-by-traditional-medication-in-the-newborn
#15
A Oulmaati, F Hmami, S Achour, A Bouharrou
The use of traditional products for therapeutic purposes in the newborn cause many cases of severe poisoning, especially in newborns. The aim of this study was to identify the main medicinal plants causing poisoning and emphasize the seriousness of poisonous plants. We report a series of eight newborns admitted for intake of poisonous medicinal plants admitted to the neonatal unit and neonatal intensive care unit at the Fez (Morocco) Hassan II University Hospital in 2014. The reasons for use were dominated by the infant's refusing to suckle...
July 19, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28734023/how-do-we-manage-blood-donors-and-recipients-after-a-positive-zika-screening-result
#16
Alexandra Jimenez, Beth H Shaz, Debra Kessler, Evan M Bloch
Zika virus (ZIKV) is a mosquito-borne flavivirus that is the focus of an ongoing pandemic. ZIKV is notable for its severe neurologic sequelae in babies born to infected mothers. High rates of subclinical infection, as evidenced by the finding of ZIKV RNA in asymptomatic donors, raise concerns of risk to the blood supply. To date, a total of four suspected cases of transfusion-transmitted ZIKV have been reported (all in Brazil), none of which were associated with clinical infection in the transfusion recipients...
July 21, 2017: Transfusion
https://www.readbyqxmd.com/read/28733751/evaluation-of-the-safety-and-efficacy-of-metoprolol-infusion-for-children-and-adolescents-with-hypertensive-crises-a-retrospective-case-series
#17
Rola Saqan, Hanan Thiabat
BACKGROUND: Acute severe hypertension occurs infrequently in pediatric patients and, consequently, data on the efficacy and safety of most antihypertensive agents, as well as the adverse events associated with these agents, are very limited in this population. In this case series, we evaluated the use of metoprolol infusion in children with hypertensive emergencies. METHODS: The study population comprised children younger than 18 years who had been admitted to the pediatric intensive care unit at King Abdullah University Hospital with blood pressure above the 99th percentile for age, height, and sex and who were symptomatic at the time of presentation...
July 21, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28733720/low-energy-chronic-traumatic-spondylolisthesis-of-the-axis
#18
Conor J Dunn, Samuel Mease, Kimona Issa, Kumar Sinha, Arash Emami
OBJECTIVE: The aim of this study is to present a unique case of a patient who presented to our Emergency Department with evidence of a chronic traumatic spondylolisthesis of the axis with severe displacement treated with anterior cervical discectomy and fusion (ACDF) of C2-C3 as well as and posterior cervical fusion (PCF) of C1-C3. METHODS: One patient with an untreated traumatic spondylolisthesis of the axis with Levine type II injury pattern and 1.2 cm of anterior subluxation underwent ACDF C2-C3 and PCF C1-C3...
July 21, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28733571/a-rare-case-of-methicillin-resistant-staphylococcus-aureus-mrsa-cerebral-abscess-secondary-to-conjunctivitis
#19
Y K Gan, A Z Azmi, S A Ghani, A Samsudin
This case report discusses the rare association of cerebral abscess related to conjunctivitis in an otherwise healthy child. A 6 year old boy presented with conjunctivitis was treated with topical antibiotics and resolved after a week. Conjunctival swab cultures grew MRSA. A month later he developed status epileptics and CT scans revealed a large cerebral abscess. He was treated with intravenous antibiotics which covered for MRSA, along with an incision and drainage for the cerebral abscess. Pus cultures grew MRSA...
June 2017: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/28732535/case-report-rare-skeletal-manifestations-in-a-child-with-primary-hyperparathyroidism
#20
Maulee Hiromi Arambewela, Kamani Danushka Liyanarachchi, Noel P Somasundaram, Aruna S Pallewatte, Gamini L Punchihewa
BACKGROUND: Primary hyperparathyroidism (PHPT) is uncommon among children with an incidence of 1:300,000. This diagnosis is often missed in children in contrast to adults where it is detected at a pre symptomatic stage due to routine blood investigations. Etiology of PHPT can be due to adenoma, hyperplasia or rarely carcinoma. CASE PRESENTATION: A 12 year old Sri Lankan girl presented with progressive difficulty in walking since 1 year. On examination she had bilateral genu valgum...
July 21, 2017: BMC Endocrine Disorders
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