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Encephalopathy

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https://www.readbyqxmd.com/read/28822711/efficacy-of-passive-hypothermia-and-adverse-events-during-transport-of-asphyxiated-newborns-according-to-the-severity-of-hypoxic-ischemic-encephalopathy
#1
Nuria Carreras, Miguel Alsina, Ana Alarcon, Gemma Arca-Díaz, Thais Agut, Alfredo García-Alix
OBJECTIVE: To determine if the efficacy of passive hypothermia and adverse events during transport are related to the severity of neonatal hypoxic-ischemic encephalopathy (HIE). METHODS: This was a retrospective study of 67 infants with HIE, born between April 2009 and December 2013, who were transferred for therapeutic hypothermia and cooled during transport. RESULTS: Fifty-six newborns (84%) were transferred without external sources of heat and 11 (16%) needed an external heat source...
August 17, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28822432/-clinical-analysis-of-children-with-pertussis-and-significance-of-respiratory-virus-detection-in-the-combined-diagnosis
#2
H Huang, L Deng, F Xiao, J Fu, J Deng, F Wang, J Yang
Objective: To analyze the clinical data of children with pertussis and explore the necessity of respiratory virus detection in the combined diagnosis so as to improve the clinician's understanding and standardize the diagnosis and treatment of pertussis in children. Method: Clinical data and laboratory examination of 195 suspected pertussis children between Jan. 2015 and Dec. 2016 in Children's Hospital Affiliated to Capital Institute of Pediatric were analyzed retrospectively. Result: The nasopharyngeal secretions were collected from 195 suspected pertussis children, PCR was employed to detect the nucleic acid of Bordetella pertussis...
August 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28820136/protective-effect-of-val129-prp-against-bovine-spongiform-encephalopathy-but-not-variant-creutzfeldt-jakob-disease
#3
Natalia Fernández-Borges, Juan Carlos Espinosa, Alba Marín-Moreno, Patricia Aguilar-Calvo, Emmanuel A Asante, Tetsuyuki Kitamoto, Shirou Mohri, Olivier Andréoletti, Juan María Torres
Bovine spongiform encephalopathy (BSE) is the only known zoonotic prion that causes variant Creutzfeldt-Jakob disease (vCJD) in humans. The major risk determinant for this disease is the polymorphic codon 129 of the human prion protein (Hu-PrP), where either methionine (Met129) or valine (Val129) can be encoded. To date, all clinical and neuropathologically confirmed vCJD cases have been Met129 homozygous, with the exception of 1 recently reported Met/Val heterozygous case. Here, we found that transgenic mice homozygous for Val129 Hu-PrP show severely restricted propagation of the BSE prion strain, but this constraint can be partially overcome by adaptation of the BSE agent to the Met129 Hu-PrP...
September 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28818555/pyridoxine-5-phosphate-oxidase-pnpo-deficiency-clinical-and-biochemical-alterations-associated-with-the-c-347g-a-p-%C3%A2-arg116gln-mutation
#4
Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, Manuela Tolve, Alessandro Paiardini, Carla Carducci, Davide Mei, Martino Montomoli, Angela Tramonti, Renzo Guerrini, Roberto Contestabile, Vincenzo Leuzzi
BACKGROUND: Pyridoxal-5(')-phosphate oxidase (PNPO) deficiency presents as a severe neonatal encephalopathy responsive to pyridoxal-5(')-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected genetic variants on PNPO gene whose pathogenic role and clinical expression remain to be established. OBJECTIVE: This paper aims to characterize the functional effects of the c.347G>A (p.Arg116Gln) mutation in the PNPO gene in order to define its pathogenicity and describe the clinical features of new patients with epilepsy carrying this mutation...
August 12, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28818358/black-toenail-sign-in-melas-syndrome
#5
Matthew T Whitehead, Michael Wien, Bonmyong Lee, Nancy Bass, Andrea Gropman
BACKGROUND: Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a mitochondrial disorder often causing progressive brain injury that is not confined to large arterial territories. Severe insults ultimately lead to gyral necrosis affecting the cortex and juxtacortical white matter; the neuroimaging correlate is partial gyral signal suppression on T2/FLAIR sequences that resemble black toenails. We aimed to characterize the imaging features and the natural history of MELAS-related gyral necrosis...
July 12, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28817786/propofol-attenuates-bv2-microglia-inflammation-via-nmda-receptor-inhibition
#6
Qichao Wu, Yanjun Zhao, Xiangyuan Chen, Minmin Zhu, Changhong Miao
Activated microglia, involved in the occurrence and improvement of sepsis-associated encephalopathy, can induce the expression of pro-inflammatory cytokines and pro-inflammatory enzymes, resulting in inflammation-mediated neuronal cell death. It was reported that propofol could inhibit lipopolysaccharide (LPS)-induced pro-inflammatory cytokines and pro-inflammatory enzymes expression in BV2 and primary microglial cells. However, the underlying mechanism is not well known. In the present study, we investigated whether and how propofol inhibited LPS-induced the expression of pro-inflammatory cytokines and pro-inflammatory enzymes in BV2 cells...
August 17, 2017: Canadian Journal of Physiology and Pharmacology
https://www.readbyqxmd.com/read/28817111/prospective-cohort-study-for-identification-of-underlying-genetic-causes-in-neonatal-encephalopathy-using-whole-exome-sequencing
#7
Theodora U J Bruun, Caro-Lyne DesRoches, Diane Wilson, Vann Chau, Tadashi Nakagawa, Masahiro Yamasaki, Shinya Hasegawa, Toshiyuki Fukao, Christian Marshall, Saadet Mercimek-Andrews
PurposeNeonatal encephalopathy, which is characterized by a decreased level of consciousness, occurs in 1-7/1,000 live-term births. In more than half of term newborns, there is no identifiable etiological factor. To identify underlying genetic defects, we applied whole-exome sequencing (WES) in term newborns with neonatal encephalopathy as a prospective cohort study.MethodsTerm newborns with neonatal encephalopathy and no history of perinatal asphyxia were included. WES was performed using patient and both parents' DNA...
August 17, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28816832/reversible-splenial-lesion-syndrome-after-intravenous-immunoglobulin-treatment-for-guillain-barre-syndrome
#8
Elif Uygur Kucukseymen, Burcu Yuksel, Fatma Genc, Eylem Ozaydin Goksu, Sevim Yildiz, Yasemin Bicer Gomceli
Reversible corpus callosum splenial (CCS) lesions have been described in patients with varied etiologies. The most common causes of previously reported reversible focal lesions of the CCS are viral encephalitis, antiepileptic drug toxicity/withdrawal, and metabolic disorders. Intravenous immunoglobulin (IVIG) therapy is used for different immune-mediated diseases. It is generally safe, and serious adverse reactions are uncommon. We presented a rare case of disturbed consciousness with reversible CCS lesions after IVIG therapy for Guillain-Barre syndrome in an adult woman...
August 14, 2017: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/28816650/evidence-for-more-cost-effective-surveillance-options-for-bovine-spongiform-encephalopathy-bse-and-scrapie-in-great-britain
#9
Ben A Wall, Mark E Arnold, Devi Radia, Will Gilbert, Angel Ortiz-Pelaez, Katharina Dc Stärk, Ed Van Klink, Javier Guitian
Transmissible spongiform encephalopathies (TSEs) are an important public health concern. Since the emergence of bovine spongiform encephalopathy (BSE) during the 1980s and its link with human Creutzfeldt-Jakob disease, active surveillance has been a key element of the European Union's TSE control strategy. Success of this strategy means that now, very few cases are detected compared with the number of animals tested. Refining surveillance strategies would enable resources to be redirected towards other public health priorities...
August 10, 2017: Euro Surveillance: Bulletin Européen sur les Maladies Transmissibles, European Communicable Disease Bulletin
https://www.readbyqxmd.com/read/28815871/clinical-and-molecular-characterization-of-de-novo-loss-of-function-variants-in-hnrnpu
#10
Magalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, Magdalena Walkiewicz, Rui Xiao, Pilar Magoulas, Shujuan Pan, Joke Beuten, Weimin He, Jonathan A Bernstein, Christian P Schaaf, Fernando Scaglia, Christine M Eng, Yaping Yang
DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental disorders characterized by global developmental delay, intellectual disability, dysmorphic features, microcephaly, seizures, and agenesis of the corpus callosum. HNRNPU is located within the 1q43-q44 region and mutations in the gene have been reported in patients with early infantile epileptic encephalopathy. Here, we report on the clinical presentation of four patients with de novo heterozygous HNRNPU loss-of-function mutations detected by clinical whole exome sequencing: c...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815344/long-term-survival-after-hematopoietic-stem-cell-transplantation-for-complete-stat1-deficiency
#11
Samuele Naviglio, Elena Soncini, Donatella Vairo, Arnalda Lanfranchi, Raffaele Badolato, Fulvio Porta
PURPOSE: Complete signal transducer and activator of transcription 1 (STAT1) deficiency is a rare autosomal recessive condition characterized by impairment of intracellular signaling from both type I and type II interferons (IFN). Affected patients are prone to early severe mycobacterial and viral infections, which usually result in death before 18 months of age. We previously reported a patient affected by complete STAT1 deficiency who underwent hematopoietic stem cell transplantation (HSCT)...
August 16, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28814581/hyperammonaemic-encephalopathy-following-an-uncomplicated-surgery
#12
Stuart McIntosh, Karima Medjoub, Kevin Deans, Sara Sexton
A 59-year-old woman who underwent an uncomplicated exploratory laparotomy, adhesiolysis, small bowel resection and anterolateral thigh flap had a complicated postoperative period characterised by wound dehiscence and poor nutritional intake. 29 days postoperatively, a tremor developed in her upper limbs associated with weakness. Her Glasgow Coma Scale (GCS) fell to 4 and she was transferred to the intensive care unit. The patient was reviewed by multiple specialists and multiple differentials were considered and eliminated...
August 16, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28814249/the-neurological-sequelae-of-neonatal-hyperbilirubinemia-definitions-diagnosis-and-treatment-of-the-kernicterus-spectrum-disorders-ksds
#13
Steven Shapiro, Jean Baptiste Le Pichon, Sean M Riordan, Jon Watchkoe
Despite its lengthy history the study of benign jaundice, hyperbilirubinemia and kernicterus suffers from a lack of clarity and consistency in the key terms used to describe both the clinical and pathophysiological nature of these conditions. This has led to multiple terms being used to describe similar conditions (i.e. kernicterus and chronic bilirubin encephalopathy) or the same term being used to describe different concepts (i.e. BIND as a descriptor of the signs of bilirubin neurotoxicity, mild kernicterus, or as a scale to assess bilirubin toxicity)...
August 14, 2017: Current Pediatric Reviews
https://www.readbyqxmd.com/read/28814166/late-presentation-of-nmosd-as-rapidly-progressive-leukoencephalopathy-with-atypical-clinical-and-radiological-findings
#14
Elia Sechi, Alberto Addis, Lucia Batzu, Sara Mariotto, Sergio Ferrari, Maurizio Conti, GianPietro Sechi
Brain abnormalities in neuromyelitis optica spectrum disorder (NMOSD) are highly heterogeneous and often non-specific. Extensive white matter involvement has been described and frequently manifests with encephalopathy requiring prompt intervention. Rarely, this may represent the only manifestation at onset without concurrent suggestive features of the disease, thus making diagnosis challenging. NMOSD may potentially occur at any age, but it seems that this disorder has distinctive clinical features in the elderly...
August 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28813241/should-potential-risk-of-chronic-traumatic-encephalopathy-be-discussed-with-young-athletes
#15
Kimberly Hornbeck, Kevin Walter, Matthew Myrvik
As participation in youth sports has risen over the past two decades, so has the incidence of youth sports injuries. A common topic of concern is concussion, or mild traumatic brain injury, in young athletes and whether concussions sustained at a young age could lead to lifelong impairment such as chronic traumatic encephalopathy (CTE). While the pathway from a concussed young athlete to an adult with CTE remains unknown, current research is attempting to provide more clarity. This article discusses how health care professionals can help foster an informed, balanced decision-making process regarding participation in contact sports that involves the parents as well as the children...
July 1, 2017: AMA Journal of Ethics
https://www.readbyqxmd.com/read/28813200/brain-microstructural-abnormalities-in-patients-with-cirrhosis-without-overt-hepatic-encephalopathy-a-voxel-based-diffusion-kurtosis-imaging-study
#16
Hua-Jun Chen, Peng-Fei Liu, Qiu-Feng Chen, Hai-Bin Shi
OBJECTIVE: This study aimed to investigate whole-brain microstructural abnormalities and their correlation with cognitive impairment in patients with cirrhosis using diffusion kurtosis imaging (DKI). SUBJECTS AND METHODS: Eighteen patients with cirrhosis and 17 healthy control subjects underwent DKI. Cognition was measured using psychometric hepatic encephalopathy (HE) scores. Whole-brain voxel-based analyses were performed to investigate between-group differences in DKI-derived parameters, including mean kurtosis, axial kurtosis, and radial kurtosis...
August 16, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28811719/refractory-hepatic-encephalopathy-in-a-patient-with-hypothyroidism-another-element-in-ammonia-metabolism
#17
Fernando Díaz-Fontenla, Marta Castillo-Pradillo, Arantxa Díaz-Gómez, Luis Ibañez-Samaniego, Pilar Gancedo, Juan Adan Guzmán-de-Villoria, Pilar Fernández-García, Rafael Bañares-Cañizares, Rita García-Martínez
Hepatic encephalopathy (HE) remains a diagnosis of exclusion due to the lack of specific signs and symptoms. Refractory HE is an uncommon but serious condition that requires the search of hidden precipitating events (i.e., portosystemic shunt) and alternative diagnosis. Hypothyroidism shares clinical manifestations with HE and is usually considered within the differential diagnosis of HE. Here, we describe a patient with refractory HE who presented a large portosystemic shunt and post-ablative hypothyroidism...
July 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28810748/chronic-traumatic-encephalopathy-cte-a-brief-historical-overview-and-recent-focus-on-nfl-players
#18
Craig W Lindsley
No abstract text is available yet for this article.
August 16, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28808366/clinical-features-and-outcomes-of-patients-with-posterior-reversible-encephalopathy-syndrome
#19
M S Kalaiselvan, M K Renuka, A S Arunkumar
AIMS: The aim of this study was to study the clinical features and outcomes of patients with posterior reversible encephalopathy syndrome (PRES) admitted to the Intensive Care Unit (ICU). SUBJECTS AND METHODS: All adult patients admitted to our ICU with acute onset neurologic symptoms with focal vasogenic edema on magnetic resonance imaging (MRI) were included in the study. Data were collected on demography, coexisting illness, admission severity of illness, neurological symptoms, blood pressure, treatment initiated, and MRI findings...
July 2017: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/28807863/prenatal-diagnosis-of-complex-phenotype-in-a-13-week-old-fetus-with-an-interstitial-multigene-deletion-20q13-13-q13-2-by-chromosomal-microarray
#20
Feodora Stipoljev, Danka Miric-Tesanic, Tomislav Hafner, Maja Barbalic, Monika Logara, Ruzica Lasan-Trcic, Ana Vicic, Romana Gjergja-Juraski
We report the first trimester three-dimensional ultrasonographic findings in a 13-week-old fetus with complex phenotype and a de novo 4.7 Mb multigene deletion encompassing chromosome region 20q13.13-q13.2 detected by chromosomal microarray. Fetal sonography detected radial-ray anomalies in the form of bilateral absence of thumbs and the left club hand deformity. The presence of single atrioventricular canal instead of the atrial septal defect typical for Holt-Oram syndrome pointed us to rather suspect the SALL4 related diseases...
August 11, 2017: European Journal of Medical Genetics
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