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https://www.readbyqxmd.com/read/27933664/left-ventricular-rotational-mechanics-in-infants-with-hypoxic-ischemic-encephalopathy-and-preterm-infants-at-36%C3%A2-weeks-postmenstrual-age-a-comparison-with-healthy-term-controls
#1
Colm R Breatnach, Eva Forman, Adrienne Foran, Cathy Monteith, Lisa McSweeney, Fergal Malone, Naomi McCallion, Orla Franklin, Afif El-Khuffash
BACKGROUND AND AIMS: There is a paucity of data on left ventricle (LV) rotational physiology in neonates. We aimed to assess rotational mechanics in infants with hypoxic ischemic encephalopathy (HIE) and premature infants (<32 weeks) at 36 weeks postmenstrual age (PMA) (preterm group) and compare them with healthy term controls (term controls). We also compared the parameters in preterm infants with and without chronic lung disease (CLD). METHODS: Echocardiography was performed within 48 hours of birth or at 36 weeks PMA...
December 9, 2016: Echocardiography
https://www.readbyqxmd.com/read/27932597/parent-experience-of-neonatal-encephalopathy-the-need-for-family-centered-outcomes
#2
Monica E Lemmon, Pamela K Donohue, Charlamaine Parkinson, Frances J Northington, Renee D Boss
We aimed to characterize the parent experience of caring for an infant with neonatal encephalopathy. In this mixed-methods study, we performed semistructured interviews with parents whose infants were enrolled in an existing longitudinal cohort study of therapeutic hypothermia between 2011 and 2014. Thematic saturation was achieved after 20 interviews. Parent experience of caring for a child with neonatal encephalopathy was characterized by 3 principal themes. Theme 1: Many families described cumulative loss and grief throughout the perinatal crisis, critical neonatal course, and subsequent missed developmental milestones...
December 8, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27932433/acute-hypertensive-encephalopathy-presenting-with-a-partial-third-nerve-palsy-image-findings
#3
James W Ryan, Christine McCarthy, Sean Murphy, Eoin Kavanagh
No abstract text is available yet for this article.
December 8, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27932130/acute-liver-failure-caused-by-primary-non-hodgkin-s-lymphoma-of-the-liver
#4
L Romacho López, F J León Díaz, B Sánchez Pérez, J A Pérez Daga, J L Fernández Aguilar, M C Montiel Casado, J M Aranda Narváez, M A Suárez Muñoz, J Santoyo Santoyo
INTRODUCTION: Acute liver failure (ALF) is a rare syndrome involving maximum liver dysfunction. This disease is characterized by a less than 26-week history of coagulopathy (INR ≥1.5) and hepatic encephalopathy and generally occurs in patients without any previously known disease. METHODS: We report the case of a healthy 25-year-old subject who presented with fulminant liver failure caused by a primary non-Hodgkin's lymphoma of the liver that required emergency liver transplantation...
November 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27931923/assessing-the-sensitivity-of-european-surveillance-for-detecting-bse-in-cattle-according-to-international-standards
#5
Amie Adkin, Robin Simons, Mark Arnold
European surveillance for Bovine Spongiform Encephalopathy (BSE), initiated in 2001, has shown a steady exponential decline in the number of infected cattle, demonstrating that control measures have been effective. In 2016 23 European countries out of 28 demonstrated negligible risk status for the disease. The international standard setting body, the World Organization for Animal Health (OIE), prescribes that for countries where there is a non-negligible BSE risk, surveillance should allow the detection of one case per 100,000 in the adult cattle population with 95% confidence (Type A surveillance)...
December 1, 2016: Preventive Veterinary Medicine
https://www.readbyqxmd.com/read/27931774/neonatal-venlafaxine-discontinuation-syndrome-a-mini-review
#6
REVIEW
Jonathon Holland, Richard Brown
During pregnancy, the developing fetal brain may be exposed to a range of psychotropic medications. The serotonin-noradrenergic reuptake inhibitor venlafaxine is one such drug, when used as a maternal antidepressant. Here we review the discontinuation phenomenon that may follow in exposed neonates following birth. Adults who abruptly stop taking venlafaxine can experience withdrawal symptoms. Venlafaxine and its metabolites cross the placenta and so the newborn can be exposed to this risk, as well as potential toxicity...
November 25, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27930518/combination-of-butylphthalide-with-umbilical-mesenchymal-stem-cells-for-the-treatment-of-delayed-encephalopathy-after-carbon-monoxide-poisoning
#7
Huanjun Wang, Yan Li, Qiang Wu, Chenglong Xu, Qingran Liu
Delayed encephalopathy after carbon monoxide (CO) poisoning (DEACMP) is still a clinical challenge. This study aimed to investigate the efficacy of combined therapy of mesenchymal stem cell (MSC) transplantation and butylphthalide in DEACMP patients.Forty-two DEACMP patients were treated with 1 of the 3 therapies: combined therapy of MSC transplantation and butylphthalide; MSC transplantation alone; or hyperbaric oxygen therapy. The MSCs were alternatively injected into the subarachnoid space and the carotid artery using a self-made high-pressure injector...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27929527/durations-of-second-stage-of-labor-and-pushing-and-adverse-neonatal-outcomes-a-population-based-cohort-study
#8
A Sandström, M Altman, S Cnattingius, S Johansson, M Ahlberg, O Stephansson
OBJECTIVE: The associations between duration of second stage of labor, pushing time and risk of adverse neonatal outcomes are not fully established. Therefore, we aimed to examine such relationships. STUDY DESIGN: A population-based cohort study including 42 539 nulliparous women with singleton infants born in cephalic presentation at ⩾37 gestational weeks, using the Stockholm-Gotland Obstetric Cohort, Sweden, and the Swedish Neonatal Quality Register, 2008 to 2013...
December 8, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27929079/from-function-to-phenotype-impaired-dna-binding-and-clustering-correlates-with-clinical-severity-in-males-with-missense-mutations-in-mecp2
#9
Taimoor I Sheikh, Juan Ausió, Hannah Faghfoury, Josh Silver, Jane B Lane, James H Eubanks, Patrick MacLeod, Alan K Percy, John B Vincent
Mutations in the MECP2 gene cause Rett syndrome (RTT). MeCP2 binds to chromocentric DNA through its methyl CpG-binding domain (MBD) to regulate gene expression. In heterozygous females the variable phenotypic severity is modulated by non-random X-inactivation, thus making genotype-phenotype comparisons unreliable. However, genotype-phenotype correlations in males with hemizygousMECP2 mutations can provide more accurate insights in to the true biological effect of specific mutations. Here, we compared chromatin organization and binding dynamics for twelve MeCP2 missense mutations (including two novel and the five most common MBD missense RTT mutations) and identifiedacorrelation with phenotype in hemizygous males...
December 8, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27928163/tbcd-may-be-a-causal-gene-in-progressive-neurodegenerative-encephalopathy-with-atypical-infantile-spinal-muscular-atrophy
#10
Toshio Ikeda, Akihiko Nakahara, Rie Nagano, Maiko Utoyama, Megumi Obara, Hiroshi Moritake, Tamayo Uechi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Naoya Kenmochi, Shinichi Morishita, Ichizo Nishino, Shoji Tsuji, Hiroyuki Nunoi
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder caused by survival motor neuron gene mutations. Variant forms of SMA accompanied by additional clinical presentations have been classified as atypical SMA and are thought to be caused by variants in as yet unidentified causative genes. Here, we presented the clinical findings of two siblings with an SMA variant followed by progressive cerebral atrophy, and the results of whole-exome sequencing analyses of the family quartet that was performed to identify potential causative variants...
December 8, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27927575/novel-mutation-in-a-patient-with-late-onset-glut1-deficiency-syndrome
#11
Sandra Juozapaite, Ruta Praninskiene, Birute Burnyte, Laima Ambrozaityte, Birute Skerliene
Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism caused by impaired glucose transport through blood brain barrier due to mutation in SLC2A1 gene, encoding transporter protein. Clinical spectrum includes various signs and symptoms, ranging from severe epileptic encephalopathy to movement disorders. The diagnosis of GLUT1-DS requires hypoglycorrhachia in the presence of normoglycaemia with a reduced cerebrospinal fluid (CSF):plasma glucose ratio. The absence of pathogenic mutation in SLC2A1 gene does not exclude the diagnosis...
December 5, 2016: Brain & Development
https://www.readbyqxmd.com/read/27926647/central-fetal-monitoring-with-and-without-computer-analysis-a-randomized-controlled-trial
#12
Inês Nunes, Diogo Ayres-de-Campos, Austin Ugwumadu, Pina Amin, Philip Banfield, Antony Nicoll, Simon Cunningham, Paulo Sousa, Cristina Costa-Santos, João Bernardes
OBJECTIVE: To evaluate whether intrapartum fetal monitoring with computer analysis and real-time alerts decreases the rate of newborn metabolic acidosis or obstetric intervention when compared with visual analysis. METHODS: A randomized clinical trial carried out in five hospitals in the United Kingdom evaluated women with singleton, vertex fetuses of 36 weeks of gestation or greater during labor. Continuous central fetal monitoring by computer analysis and online alerts (experimental arm) was compared with visual analysis (control arm)...
December 2, 2016: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27923694/neuropsychiatric-performance-in-patients-with-cirrhosis-who-is-normal
#13
REVIEW
Sara Montagnese, Michele De Rui, Paolo Angeli, Piero Amodio
Normal neuropsychiatric performance in cirrhosis has been traditionally defined by the absence of any degree of hepatic encephalopathy (HE) and/or the absence of psychometric or neurophysiological abnormalities, by comparison with reference data from the healthy population. It is our impression that as our understanding and management of end-stage liver disease continues to change, the concept of normal neuropsychiatric performance may also need updating. This review explores novel and possibly more pragmatic interpretations of neuropsychiatric "normality" by comparison with top personal performance, in terms of risk of overt HE/brain failure and in relation with events such as liver transplantation, decompensation, acute-on-chronic liver failure (ACLF) and Transjugular Intrahepatic Portal-systemic Shunt (TIPS) placement...
December 3, 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/27923529/total-corpus-callosotomy-for-epileptic-spasms-after-acute-encephalopathy-with-biphasic-seizures-and-late-reduced-diffusion-aesd-in-a-case-with-tuberous-sclerosis-complex
#14
Tohru Okanishi, Ayataka Fujimoto, Hirotaka Motoi, Sotaro Kanai, Mitsuyo Nishimura, Tomohiro Yamazoe, Atsushi Takagi, Takamichi Yamamoto, Hideo Enoki
Corpus callosotomy is a palliative therapy for refractory epilepsy, including West syndrome, without a resectable epileptic focus. The surgical outcome of corpus callosotomy is relatively favorable in cryptogenic (non-lesional) West syndrome. Tuberous sclerosis complex (TSC) is a disorder that frequently leads to the development of refractory seizures by multiple cortical tubers. The multiple cortical tubers cause multiple or wide epileptic networks in these cases. Most of West syndrome cases in TSC with multiple tubers need additional resective surgery after corpus callosotomy...
December 3, 2016: Brain & Development
https://www.readbyqxmd.com/read/27922496/metabolic-myopathies
#15
Mark A Tarnopolsky
PURPOSE OF REVIEW: Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycolysis/glycogenolysis (glycogen-storage disease), fatty acid transport and oxidation (fatty acid oxidation defects), and the mitochondrial respiratory chain (mitochondrial myopathies) represent the majority of known defects. The purpose of this review is to develop a diagnostic and treatment algorithm for the metabolic myopathies. RECENT FINDINGS: The metabolic myopathies can present in the neonatal and infant period as part of more systemic involvement with hypotonia, hypoglycemia, and encephalopathy; however, most cases present in childhood or in adulthood with exercise intolerance (often with rhabdomyolysis) and weakness...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27920985/the-first-case-of-recurrent-ultra-late-onset-group-b-streptococcal-sepsis-in-a-3-year-old-child
#16
Ai Hosoda, Ryohei Gatayama, Shiori Moriyama, Noriyuki Ishii, Kenichiro Yamada, Youhei Matsuzaki, Masayoshi Shinjoh
Group B streptococcus (GBS) is a commonly recognized cause of sepsis and meningitis in neonatal and young infants. Invasive GBS infection is classified into early onset GBS disease (EOD, day 0-6), late onset GBS disease (LOD, day 7-89) and ultra late onset GBS disease (ULOD, after 3 months of age). ULOD is uncommon and recurrence is especially rare. We present the first recurrent case of ULOD GBS sepsis in 3-year-old girl with a past medical history of hydrops fetalis and thoracic congenital lymphatic dysplasia...
2017: IDCases
https://www.readbyqxmd.com/read/27920543/intestinal-permeability-in-a-patient-with-liver-cirrhosis
#17
REVIEW
Jonathan Manuel Aguirre Valadez, Liliana Rivera-Espinosa, Osvely Méndez-Guerrero, Juan Luis Chávez-Pacheco, Ignacio García Juárez, Aldo Torre
Liver cirrhosis is a worldwide public health problem, and patients with this disease are at high risk of developing complications, bacterial translocation from the intestinal lumen to the mesenteric nodes, and systemic circulation, resulting in the development of severe complications related to high mortality rate. The intestinal barrier is a structure with a physical and biochemical activity to maintain balance between the external environment, including bacteria and their products, and the internal environment...
2016: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/27920148/epilepsy-associated-kcnq2-channels-regulate-multiple-intrinsic-properties-of-layer-2-3-pyramidal-neurons
#18
Zachary Niday, Virginia E Hawkins, Heun Soh, Daniel K Mulkey, Anastasios V Tzingounis
: KCNQ2 potassium channels are critical for normal brain function, as both loss- and gain-of-function KCNQ2 variants can lead to various forms of neonatal epilepsy. Despite recent progress, the full spectrum of consequences as a result of KCNQ2 dysfunction in neocortical pyramidal neurons is still unknown. Here, we report that conditional ablation of Kcnq2 from mouse neocortex leads to hyperexcitability of layer 2/3 (L2/3) pyramidal neurons, exhibiting an increased input resistance and action potential frequency, as well as a reduced medium afterhyperpolarization (mAHP), a conductance partly mediated by KCNQ2 channels...
December 5, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27919476/acute-disseminated-encephalomyelitis-complicating-dengue-infection-with-neuroimaging-mimicking-multiple-sclerosis-a-report-of-two-cases
#19
S Viswanathan, N Botross, B N Rusli, A Riad
Acute disseminated encephalomyelitis (ADEM) complicating dengue infection is still exceedingly rare even in endemic countries such as Malaysia. Here we report two such cases, the first in an elderly female patient and the second in a young man. Both presented with encephalopathy, brainstem involvement and worsening upper and lower limb weakness. Initial magnetic resonance imaging (MRI) of the brain was normal in the first case. Serum for dengue Ig M and NS-1 was positive in both cases. Cerebrospinal fluid (CSF) showed pleocytosis in both with Dengue IgM and NS-1 positive in the second case but not done in the first...
November 2016: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/27919270/delayed-hyperbaric-oxygen-therapy-for-air-emboli-after-open-heart-surgery-case-report-and-review-of-a-success-story
#20
Eva Niyibizi, Guillaume Elyes Kembi, Claude Lae, Rodrigue Pignel, Tornike Sologashvili
BACKGROUND: The current case describes a rare diagnosis of iatrogenic air emboli after elective cardiopulmonary bypass that was successfully treated with delayed hyperbaric oxygen therapy, with good clinical evolution in spite of rare complications. CASE PRESENTATION: A 35 years old male was admitted to the intensive care unit (ICU) for post-operative management after being placed on cardiopulmonary bypass (CPB) for an elective ventricular septal defect closure and aortic valvuloplasty...
December 5, 2016: Journal of Cardiothoracic Surgery
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