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https://www.readbyqxmd.com/read/28435324/symptomatic-central-nervous-system-involvement-in-adult-patients-with-acute-myeloid-leukemia
#1
Nael Alakel, Friedrich Stölzel, Brigitte Mohr, Michael Kramer, Uta Oelschlägel, Christoph Röllig, Martin Bornhäuser, Gerhard Ehninger, Markus Schaich
INTRODUCTION: Acute myeloid leukemia (AML) rarely involves the central nervous system (CNS). Little is known about the clinical course in adult AML patients since most studies examined pediatric patients. Therefore, this study analyzed the data of patients treated in three prospective trials of the "Study Alliance Leukemia" (SAL) study group for CNS involvement. METHODS: In all, 3,261 AML patients included in the prospective AML96, AML2003, and AML60+ trials of the SAL study group were analyzed...
2017: Cancer Management and Research
https://www.readbyqxmd.com/read/28402605/biotin-thiamine-responsive-basal-ganglia-disease-identification-of-a-pyruvate-peak-on-brain-spectroscopy-novel-mutation-in-slc19a3-and-calculation-of-prevalence-based-on-allele-frequencies-from-aggregated-next-generation-sequencing-data
#2
Carlos R Ferreira, Matthew T Whitehead, Eyby Leon
Biotin-thiamine responsive basal ganglia disease is an inborn error of metabolism caused by mutations in SLC19A3, encoding a transporter of thiamine across the plasma membrane. We report a novel mutation identified in the homozygous state in a patient with typical brain MRI changes. In addition, this patient had markedly elevated CSF pyruvate, a low lactate-to-pyruvate molar ratio, and an abnormal pyruvate peak at 2.4 ppm on brain magnetic resonance spectroscopy. Using aggregated exome sequencing data, we calculate the carrier frequency of mutations in SLC19A3 as 1 in 232 individuals in the general population, for an estimated prevalence of the disease of approximately 1 in 215,000 individuals...
April 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28392319/diagnostic-accuracy-of-routine-blood-examinations-and-csf-lactate-level-for-post-neurosurgical-bacterial-meningitis
#3
Yang Zhang, Xiong Xiao, Junting Zhang, Zhixian Gao, Nan Ji, Liwei Zhang
OBJECTIVE: To evaluate the diagnostic accuracy of routine blood examinations and Cerebrospinal Fluid (CSF) lactate level for Post-neurosurgical Bacterial Meningitis (PBM) at a large sample-size post-neurosurgical patients. METHODS: The diagnostic accuracies of routine blood examinations and CSF lactate level to distinguish between PAM and PBM were evaluated with the values of the Area Under the Curve of the Receiver Operating Characteristic (AUC-ROC) by retrospectively analyzing the datasets of post-neurosurgical patients in the clinical information databases...
April 6, 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/28378140/management-of-non-hodgkin-lymphoma-icmr-consensus-document
#4
Nirav Thacker, Sameer Bakhshi, Girish Chinnaswamy, Tushar Vora, Maya Prasad, Deepak Bansal, Sandeep Agarwala, Gauri Kapoor, Venkatraman Radhakrishnan, Siddharth Laskar, Tanvir Kaur, G K Rath, Rupinder Singh Dhaliwal, Brijesh Arora
Hitherto poor outcomes, paucity of data and heterogeneity in International approach to Pediatric NHL (Non-Hodgkin Lymphoma) prompted the need for guidelines for Indian population with vast variability in access, affordability and infrastructure across the country. These guidelines are based on consensus among the experts and best available evidence applicable to Indian setting. Evaluation of NHL should consist of easily doable and rapid tissue diagnosis (biopsy or flow cytometry of peripheral blood/malignant effusions), St Jude/IPNHLSS (International Pediatric Non-Hodgkin Lymphoma Staging System) and risk grouping with CSF (Cerebro-spinal fluid), bone marrow, whole body imaging [CECT (Contrast enhanced computerized tomography) ± MRI (Magnetic resonance imaging)] and blood investigations for LDH (Lactate dehydrogenase), TLS (Tumor lysis syndrome) and organ functions...
April 5, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28370718/m2-like-macrophage-polarization-in-high-lactic-acid-producing-head-and-neck-cancer
#5
Toshimitsu Ohashi, Mitsuhiro Aoki, Hiroyuki Tomita, Takashi Akazawa, Katsuya Sato, Bunya Kuze, Keisuke Mizuta, Akira Hara, Hitoshi Nagaoka, Norimitsu Inoue, Yatsuji Ito
Reprogramming of glucose metabolism in tumor cells is referred to as the Warburg effect and results in increased lactic acid secretion into the tumor microenvironment. We have previously shown that lactic acid has important roles as a proinflammatory and immunosuppressive mediator and promotes tumor progression. In this study, we examined the relationship between the lactic acid concentration and expression of lactate dehydrogenase-A (LDHA) and glucose transporter-1 (GLUT1), which are related to the Warburg effect, in human head and neck squamous cell carcinoma (HNSCC)...
April 1, 2017: Cancer Science
https://www.readbyqxmd.com/read/28355722/-a-clinical-analysis-of-5-patients-with-infratentorial-primary-angiitis-of-central-nervous-system
#6
L J Peng, H R Qian, L L Mao, D Y Xia, X K Qi
Objective: To explore the clinical characteristics of infratentorial primary angiitis in central nervous system(PACNS). Methods: A total of 5 cases diagnosed as infratentorial PACNS in the neurology department of Navy General Hospital of PLA in 2015 were enrolled in the study. The clinical, imaging and pathological data were collected and analyzed. Results: All the 5 cases were male with the median onset age of thirty-four. Five cases presented with dizziness, two with headache, three with walking unstable, two with facial numbness and one with dysarthria...
April 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28351400/cerebrospinal-fluid-abnormalities-in-meningeosis-neoplastica-a-retrospective-12-year-analysis
#7
Marija Djukic, Ralf Trimmel, Ingelore Nagel, Annette Spreer, Peter Lange, Christine Stadelmann, Roland Nau
BACKGROUND: Meningeosis neoplastica is a diffuse metastatic spread of tumor cells in the subarachnoid space. Although first recognized in 1870, systematic investigations regarding cerebrospinal fluid (CSF) constituents in this condition are scarce. METHODS: Routine CSF samples analyzed from 2001 to 2012 at the Laboratory of Clinical Neurochemistry, University of Göttingen, were re-evaluated. Patients, whose CSF contained malignant cells were included in this study...
March 28, 2017: Fluids and Barriers of the CNS
https://www.readbyqxmd.com/read/28345119/metabolism-of-mannose-in-cultured-primary-rat-neurons
#8
Wiebke Rastedt, Eva-Maria Blumrich, Ralf Dringen
Glucose is the main peripheral substrate for energy production in the brain. However, as other hexoses are present in blood and cerebrospinal fluid, we have investigated whether neurons have the potential to metabolize, in addition to glucose, also the hexoses mannose, fructose or galactose. Incubation of primary cerebellar granule neurons in the absence of glucose caused severe cell toxicity within 24 h, which could not be prevented by application of galactose or fructose, while the cells remained viable during incubation in the presence of either mannose or glucose...
March 27, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28329084/obstructive-sleep-apnea-is-associated-with-early-but-possibly-modifiable-alzheimer-s-disease-changes
#9
Claudio Liguori, Nicola Biagio Mercuri, Francesca Izzi, Andrea Romigi, Alberto Cordella, Giuseppe Sancesario, Fabio Placidi
Study Objectives: Obstructive sleep apnea (OSA) is a common sleep disorder. Actually, literature lacks studies examining sleep, cognition, and Alzheimer's Disease (AD) cerebrospinal-fluid biomarkers in OSA patients. Therefore, we firstly studied cognitive performances, polysomnographic sleep, and CSF β-amyloid, tau proteins and lactate levels in patients affected by subjective cognitive impairment (SCI) divided in three groups: OSA patients (showing an Apnea-Hypopnea Index - AHI ≥15/h), controls (showing an AHI<15/h), and patients treating OSA by continuous positive airway pressure (CPAP)...
January 28, 2017: Sleep
https://www.readbyqxmd.com/read/28327992/cyst-fluid-from-cystic-malignant-brain-tumors-a-reservoir-of-nutrients-including-growth-factor-like-nutrients-for-tumor-cells
#10
Daniel Dahlberg, Eduard A Struys, Erwin E Jansen, Lars Mørkrid, Øivind Midttun, Bjørnar Hassel
BACKGROUND: Brain tumors may have cysts, whose content of nutrients could influence tumor cell microenvironment and growth. OBJECTIVE: To measure nutrients in cyst fluid from glioblastoma multiforme (GBM) and metastatic brain tumors. METHODS: Quantification of nutrients in cyst fluid from 12 to 18 GBMs and 4 to 10 metastatic brain tumors. RESULTS: GBM cysts contained glucose at 2.2 mmol/L (median value; range <0.8-3...
January 25, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28324109/sex-specific-life-course-changes-in-the-neuro-metabolic-phenotype-of-glut3-null-heterozygous-mice-ketogenic-diet-ameliorates-electroencephalographic-seizures-and-improves-sociability
#11
Yun Dai, Yuanzi Zhao, Masatoshi Tomi, Bo-Chul Shin, Shanthie Thamotharan, Andrey Mazarati, Raman Sankar, Elizabeth A Wang, Carlos Cepeda, Michael S Levine, Jingjing Zhang, Andrew Frew, Jeffry R Alger, Peter M Clark, Monica Sondhi, Sudatip Kositamongkol, Leah Leibovitch, Sherin U Devaskar
We tested the hypothesis that exposure of glut3+/- mice to a ketogenic diet ameliorates autism-like features, which include aberrant behavior and electrographic seizures. We first investigated the life course sex-specific changes in basal plasma-cerebrospinal fluid (CSF)-brain metabolic profile, brain glucose transport/uptake, glucose and monocarboxylate transporter proteins, and adenosine triphosphate (ATP) in the presence or absence of systemic insulin administration. Glut3+/- male but not female mice (5 months of age) displayed reduced CSF glucose/lactate concentrations with no change in brain Glut1, Mct2, glucose uptake or ATP...
April 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28298047/development-of-a-prediction-rule-for-diagnosing-postoperative-meningitis-a-cross-sectional-study
#12
Olga Helena Hernández Ortiz, Héctor Iván García García, Fabián Muñoz Ramírez, Juan Sebastián Cardona Flórez, Bladimir Alejandro Gil Valencia, Salvador Ernesto Medina Mantilla, María Juliana Moreno Ochoa, Jorge Eliécer Sará Ochoa, Fabián Jaimes
OBJECTIVE Diagnosing nosocomial meningitis (NM) in neurosurgical patients is difficult. The standard CSF test is not optimal and when it is obtained, CSF cultures are negative in as many as 70% of cases. The goal of this study was to develop a diagnostic prediction rule for postoperative meningitis using a combination of clinical, laboratory, and CSF variables, as well as risk factors (RFs) for CNS infection. METHODS A cross-sectional study was performed in 4 intensive care units in Medellín, Colombia. Patients with a history of neurosurgical procedures were selected at the onset of febrile symptoms and/or after an increase in acute-phase reactants...
March 10, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28253907/systemic-pro-inflammatory-cytokine-status-following-therapeutic-hypothermia-in-a-piglet-hypoxia-ischemia-model
#13
Eridan Rocha-Ferreira, Dorottya Kelen, Stuart Faulkner, Kevin D Broad, Manigandan Chandrasekaran, Áron Kerenyi, Takenori Kato, Alan Bainbridge, Xavier Golay, Mark Sullivan, Boris W Kramer, Nicola J Robertson
BACKGROUND: Inflammatory cytokines are implicated in the pathogenesis of perinatal hypoxia-ischemia (HI). The influence of hypothermia (HT) on cytokines after HI is unclear. Our aim was to assess in a piglet asphyxia model, under normothermic (NT) and HT conditions: (i) the evolution of serum cytokines over 48 h and (ii) cerebrospinal fluid (CSF) cytokine levels at 48 h; (iii) serum pro/anti-inflammatory cytokine profile over 48 h and (iv) relation between brain injury measured by magnetic resonance spectroscopy (MRS) and brain TUNEL positive cells with serum cytokines, serum pro/anti-inflammatory cytokines and CSF cytokines...
March 3, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28225808/epileptogenesis-in-organotypic-hippocampal-cultures-has-limited-dependence-on-culture-medium-composition
#14
Jing Liu, Yero Saponjian, Mark M Mahoney, Kevin J Staley, Yevgeny Berdichevsky
Rodent organotypic hippocampal cultures spontaneously develop epileptiform activity after approximately 2 weeks in vitro and are increasingly used as a model of chronic post-traumatic epilepsy. However, organotypic cultures are maintained in an artificial environment (culture medium), which contains electrolytes, glucose, amino acids and other components that are not present at the same concentrations in cerebrospinal fluid (CSF). Therefore, it is possible that epileptogenesis in organotypic cultures is driven by these components...
2017: PloS One
https://www.readbyqxmd.com/read/28202214/lethal-neonatal-case-and-review-of-primary-short-chain-enoyl-coa-hydratase-sceh-deficiency-associated-with-secondary-lymphocyte-pyruvate-dehydrogenase-complex-pdc-deficiency
#15
Jirair K Bedoyan, Samuel P Yang, Sacha Ferdinandusse, Rhona M Jack, Alexander Miron, George Grahame, Suzanne D DeBrosse, Charles L Hoppel, Douglas S Kerr, Ronald J A Wanders
Mutations in ECHS1 result in short-chain enoyl-CoA hydratase (SCEH) deficiency which mainly affects the catabolism of various amino acids, particularly valine. We describe a case compound heterozygous for ECHS1 mutations c.836T>C (novel) and c.8C>A identified by whole exome sequencing of proband and parents. SCEH deficiency was confirmed with very low SCEH activity in fibroblasts and nearly absent immunoreactivity of SCEH. The patient had a severe neonatal course with elevated blood and cerebrospinal fluid lactate and pyruvate concentrations, high plasma alanine and slightly low plasma cystine...
April 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28202118/-clinical-and-laboratory-features-of-macrophage-activation-syndrome
#16
Li Guo, Mei-Ping Lu, Gui-Juan Dong, Li-Ping Teng, Yi-Ping Xu, Li-Xia Zou, Qi Zheng
OBJECTIVE: To study the clinical and laboratory features of macrophage activation syndrome (MAS) at the early stage of diagnosis, and to explore a method for early identification of MAS. METHODS: A retrospective analysis was performed for the demographic data, clinical and laboratory features, and treatment outcomes of 21 MAS patients. RESULTS: Of the 21 MAS patients, 14 had systemic juvenile idiopathic arthritis, 5 had Kawasaki disease (KD), and 2 had connective tissue disease (CTD) as primary diseases...
February 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28150333/varicella-zoster-virus-meningitis-under-ustekinumab-because-of-plaque-psoriasis
#17
Claudia Stöllberger, Josef Finsterer
Ustekinumab, a monoclonal antibody that binds to the shared p40 subunit of interleukin (IL)-12 and IL-23, is approved in the USA and Europe for moderate to severe plaque psoriasis. There are concerns that biologic treatments like ustekinumab may lead to an increased rate of infections. We report a 77-year-old woman who developed varicella zoster virus meningitis 8 weeks after initiation of ustekinumab therapy because of plaque psoriasis. She presented clinically with sudden onset of fatigue, vertigo, nausea and epileptic seizures...
February 2, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28059631/acute-necrotizing-encephalopathy-causing-human-bocavirus
#18
Ayse Betul Ergul, Umit Altug, Kursad Aydin, Ahmet Sami Guven, Yasemin Altuner Torun
Acute necrotizing encephalopathy is characterized by multiple, symmetrical lesions involving the thalamus, brainstem, cerebellum, and white matter and develops secondarily to viral infections. Influenza viruses are the most common etiological agents. Here, we present the first case of acute necrotizing encephalopathy to develop secondarily to human bocavirus. A 3-year-old girl presented with fever and altered mental status. She had had a fever, cough, and rhinorrhea for five days. The patient was admitted to the intensive care unit with an initial diagnosis of encephalitis when vomiting, convulsions, and loss of consciousness developed...
April 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28025469/mr-spectroscopy-in-patients-with-hereditary-diffuse-leukoencephalopathy-with-spheroids-and-asymptomatic-carriers-of-colony-stimulating-factor-1-receptor-mutation
#19
Takashi Abe, Toshitaka Kawarai, Koji Fujita, Wataru Sako, Yuka Terasawa, Tsuyoshi Matsuda, Waka Sakai, Ai Tsukamoto-Miyashiro, Naoko Matsui, Yuishin Izumi, Ryuji Kaji, Masafumi Harada
PURPOSE: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare neurodegenerative disorder with various clinical presentations. Mutation of the colony-stimulating factor 1 receptor (CSF1R) gene is considered to be a cause of this autosomal dominant disorder. The purpose of this study was to report magnetic resonance spectroscopy (MRS) findings in patients with HDLS and asymptomatic carriers and to clarify the use of MRS in this disease. MATERIALS AND METHODS: In this retrospective, institutional review board-approved study, we included four consecutive patients, genetically diagnosed with HDLS, and two asymptomatic carriers after acquiring informed consent...
December 26, 2016: Magnetic Resonance in Medical Sciences: MRMS
https://www.readbyqxmd.com/read/28018440/glucose-transport-1-deficiency-presenting-as-infantile-spasms-with-a-mutation-identified-in-exon-9-of-slc2a1
#20
Hyun Hee Lee, Yun Jung Hur
Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures...
November 2016: Korean Journal of Pediatrics
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