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Wei Peng, Xiu-Wei Ma, Xiao Yang, Wan-Qiao Zhang, Lei Yan, Yong-Xia Wang, Xin Liu, Yan Wang, Zhi-Chun Feng
BACKGROUND: L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria neurometabolic disease that is inherited as an autosomal recessive mode and have a variety of symptoms, such as psychomotor developmental retardation, epilepsy, cerebral symptoms as well as increased concentrations of 2-hydroxyglutarate (2-HG) in the plasma, urine and cerebrospinal fluid. The causative gene of L-2-HGA is L-2-hydroxyglutarate dehydrogenase gene (L2HGDH), which consists of 10 exons. CASE PRESENTATION: We presented a rare patient primary diagnosis of L-2-HGA based on the clinical symptoms, magnetic resonance imaging (MRI), and gas chromatography-mass spectrometry (GC-MS) results...
September 14, 2018: BMC Medical Genetics
Vilma Maria Junges, Vera Elizabeth Closs, Guilherme Marcos Nogueira, Maria Gabriela Valle Gottlieb
The role of diet and gut microbiota in the pathophysiology of neurodegenerative diseases, such as Alzheimer's, has recently come under intense investigation. Studies suggest that human gut microbiota may contribute to the modulation of several neurochemical and neurometabolic pathways, through complex systems that interact and interconnect with the central nervous system. The brain and intestine form a bidirectional communication axis, or vice versa, they form an axis through bi-directional communication between endocrine and complex immune systems, involving neurotransmitters and hormones...
September 4, 2018: Current Alzheimer Research
Kayla Ryan, Krzysztof Wawrzyn, Joseph S Gati, Blaine A Chronik, Dickson Wong, Neil Duggal, Robert Bartha
Transcranial direct current stimulation (tDCS) is a form of non-invasive brain stimulation that may modulate cortical excitability, metabolite concentration, and human behaviour. The supplementary motor area (SMA) has been largely ignored as a potential target for tDCS neurorehabilitation but is an important region in motor compensation after brain injury with strong efferent connections to the primary motor cortex (M1). The objective of this work was to measure tissue metabolite changes in the human motor cortex immediately following tDCS...
2018: PloS One
Sonia Gandhi, Sunil Koundal, Tanzeer Kaur, Subash Khushu, Ajay Kumar Singh
The publisher regrets that this article has been temporarily removed. A replacement will appear as soon as possible in which the reason for the removal of the article will be specified, or the article will be reinstated. The full Elsevier Policy on Article Withdrawal can be found at
August 25, 2018: Brain Research
Àlex Bayés
Neurotransmitter diseases are a well-defined group of metabolic conditions caused, in most instances, by genes specifically expressed in the presynaptic button. Better understanding of presynaptic molecular physiology, both in normal and pathological conditions, should help develop therapeutical strategies. The clinical relevance of the presynapse in inherited metabolic disorders is in glaring contrast with that of the postsynaptic component, which so far does not seem to play a relevant role in these disorders...
August 21, 2018: Journal of Inherited Metabolic Disease
Marcio Gerhardt Soeiro-de-Souza, Maria Concepcion Garcia Otaduy, Rodrigo Machado-Vieira, Ricardo Alberto Moreno, Fabiano G Nery, Claudia Leite, Beny Lafer
OBJECTIVE: In the treatment of Bipolar disorder (BD), achieving euthymia is highly complex and usually requires a combination of mood stabilizers. The mechanism of action in stabilizing mood has not been fully elucidated, but alterations in N-Acetylaspartate (NAA), Myo-Inositol (mI) and Choline (Cho) have been implicated. Proton magnetic resonance spectroscopy (1 H-MRS) is the gold standard technique for measuring brain NAA, Cho and mI in vivo. The objective of this study was to investigate the association of lithium use in BD type I and brain levels of NAA, mI and Cho in the (anterior cingulate cortex) ACC...
December 1, 2018: Journal of Affective Disorders
Gilian Guerreiro, Jéssica Faverzani, Carlos Eduardo Diaz Jacques, Desirèe P Marchetti, Angela Sitta, Daniella de Moura Coelho, Aline Kayser, Fernando Kok, Larissa Athayde, Vanusa Manfredini, Moacir Wajner, Carmen Regla Vargas
The deficiency of the enzyme glutaryl-CoA dehydrogenase, known as glutaric acidemia type I (GA-I), leads to the accumulation of glutaric acid (GA) and glutarilcarnitine (C5DC) in the tissues and body fluids, unleashing important neurotoxic effects. l-carnitine (l-car) is recommended for the treatment of GA-I, aiming to induce the excretion of toxic metabolites. l-car has also demonstrated an important role as antioxidant and anti-inflammatory in some neurometabolic diseases. This study evaluated GA-I patients at diagnosis moment and treated the oxidative damage to lipids, proteins, and the inflammatory profile, as well as in vivo and in vitro DNA damage, reactive nitrogen species (RNS), and antioxidant capacity, verifying if the actual treatment with l-car (100 mg kg-1  day-1 ) is able to protect the organism against these processes...
August 20, 2018: Journal of Cellular Biochemistry
Naila Ismayilova, Yael Hacohen, Andrew D MacKinnon, Frances Elmslie, Antonia Clarke
Glucose transporter type 1 (GLUT1) deficiency syndrome is a well recognised genetic neurometabolic disorder typically presenting with progressive encephalopathy, acquired microcephaly and drug-resistant epilepsy. Imaging is normal in the majority. Here we describe a 5-month-old boy who presented with motor delay, myoclonic jerks and tonic-clonic seizures. His MRI brain scan revealed confluent symmetrical T2 hyperintense signal abnormality in both anterior frontal lobes and delayed myelination. Neurometabolic screen revealed low CSF glucose and lactate levels...
February 9, 2018: European Journal of Paediatric Neurology: EJPN
Zeren Barış, Figen Özçay, Lale Olcay, Serdar Ceylaner, Taner Sezer
We present a patient with failure to thrive and severe hypotonia, who was initially suspected of having a neurometabolic disease but later diagnosed as Shwachman-Diamond syndrome (SDS), which was genetically confirmed. SDS is a multisystemic disease, which is characterized by exocrine pancreatic deficiency, bone marrow dysfunction with increased risk for malignant transformation, and skeletal abnormalities. It should be included in differential diagnosis of patients with failure to thrive and unexplained neurodevelopmental delay with neutropenia...
September 2018: Journal of Pediatric Genetics
Julia Becker-Kettern, Nicole Paczia, Jean-François Conrotte, Chenchen Zhu, Oliver Fiehn, Paul P Jung, Lars M Steinmetz, Carole L Linster
NADHX and NADPHX are hydrated and redox inactive forms of the NADH and NADPH cofactors, known to inhibit several dehydrogenases in vitro. A metabolite repair system that is conserved in all domains of life and that comprises the two enzymes NAD(P)HX dehydratase and NAD(P)HX epimerase, allows reconversion of both the S- and R-epimers of NADHX and NADPHX to the normal cofactors. An inherited deficiency in this system has recently been shown to cause severe neurometabolic disease in children. Although evidence for the presence of NAD(P)HX has been obtained in plant and human cells, little is known about the mechanism of formation of these derivatives in vivo and their potential effects on cell metabolism...
August 11, 2018: FEBS Journal
Tania Arguello, Caroline Köhrer, Uttham L RajBhandary, Carlos T Moraes
N-Formylation of the Met-tRNAMet by the nuclear-encoded mitochondrial methionyl-tRNA formyl transferase (MTFMT) has been found to be a key determinant of protein synthesis initiation in mitochondria. In humans, mutations in the MTFMT gene result in Leigh syndrome, a progressive and severe neurometabolic disorder. However, the absolute requirement of formylation of Met-tRNAMet for protein synthesis in mammalian mitochondria is still debated. Here, we generated a Mtfmt-KO mouse fibroblast cell line and demonstrated that N-formylation of the first methionine via fMet-tRNAMet by MTFMT is not an absolute requirement for initiation of protein synthesis...
August 7, 2018: Journal of Biological Chemistry
Kshitij Mankad, Giacomo Talenti, Ai Peng Tan, Fabrício Guimarães Gonçalves, Carlos Robles, Elaine Y L Kan, Ata Siddiqui
There is an extensive and diverse set of medical conditions affecting the neonatal brain within the spectrum of neurometabolic disorders. As such, their clinical presentations can be rather nonspecific, and can often mimic acquired entities such as hypoxic-ischemic encephalopathy and sepsis. Similarly, the radiological findings in these entities can also be frequently nonspecific, but a more detailed analysis of imaging findings (especially magnetic resonance imaging) alongside the relevant clinical details can be a rewarding experience, thus enabling a timely and targeted diagnosis...
August 2018: Topics in Magnetic Resonance Imaging: TMRI
Ali Reza Tavasoli, Nima Parvaneh, Mahmoud Reza Ashrafi, Zahra Rezaei, Johannes Zschocke, Parastoo Rostami
BACKGROUND: Infantile Sandhoff disease (ISD) is a GM2 gangliosidosis that is classified as a lysosomal storage disorder. The most common symptoms of affected individuals at presentation are neurologic involvement. Here we report clinical course and demographic features in a case series of infantile Sandhoff disease. Enzymatically and some genetically proven cases of ISD were extracted from the Iranian Neurometabolic Registry (INMR) in Children's Medical Center, Iran, Tehran from December 2010 to December 2016...
August 3, 2018: Orphanet Journal of Rare Diseases
Alessandra Rufa, Aasef G Shaikh
No abstract text is available yet for this article.
2018: Frontiers in Neurology
Vojislava Bugarski Ignjatovic, Jelena Mitrovic, Dusko Kozic, Jasmina Boban, Daniela Maric, Snezana Brkic
The set of complex cognitive processes, that are necessary for the cognitive control of behavior, known as executive functions (EF), are traditionally associated with the prefrontal cortex and commonly assessed with laboratory based tests and conventional neuroimaging. In an effort to produce a more complete and ecologically valid understanding of executive functioning, the rating scales have been developed in order to assess the behavioral aspects of EF within an everyday real-world context. The main objective of this study was to examine the relationship between behavioral aspects of EF measured by rating scale and neurometabolic profile in neurologically asymptomatic HIV-positive individuals under cART, measured using multi-voxel magnetic resonance spectroscopy (mvMRS)...
2018: Frontiers in Psychology
Isabelle Ripp, Alexandre Savio, Igor Yakushev
No abstract text is available yet for this article.
August 2, 2018: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
Cátia F Lourenço, Ana Ledo, Miguel Caetano, Rui M Barbosa, João Laranjinha
Neurovascular and neurometabolic coupling are critical and complex processes underlying brain function. Perturbations in the regulation of these processes are, likely, early dysfunctional alterations in pathological brain aging and age-related neurodegeneration. Evidences support the role of nitric oxide (•NO) as a key messenger both in neurovascular coupling, by signaling from neurons to blood vessels, and in neurometabolic coupling, by modulating O2 utilization by mitochondria. In the present study, we investigated the functionality of neurovascular and neurometabolic coupling in connection to •NO signaling and in association to cognitive performance during aging...
2018: Frontiers in Physiology
Lance H Rodan, Wanshu Qi, Gregory S Ducker, Didem Demirbas, Regina Laine, Edward Yang, Melissa A Walker, Florian Eichler, Joshua D Rabinowitz, Irina Anselm, Gerard T Berry
Folate metabolism in the brain is critically important and serves a number of vital roles in nucleotide synthesis, single carbon metabolism/methylation, amino acid metabolism, and mitochondrial translation. Genetic defects in almost every enzyme of folate metabolism have been reported to date, and most have neurological sequelae. We report 2 patients presenting with a neurometabolic disorder associated with biallelic variants in the MTHFS gene, encoding 5,10-methenyltetrahydrofolate synthetase. Both patients presented with microcephaly, short stature, severe global developmental delay, progressive spasticity, epilepsy, and cerebral hypomyelination...
June 15, 2018: Molecular Genetics and Metabolism
Elisenda Cortès-Saladelafont, Noa Lipstein, Àngels García-Cazorla
The aim of this report is to present a tentative clinical and pathophysiological approach to diseases affecting the neuronal presynaptic terminal, with a major focus on synaptic vesicles (SVs). Diseases are classified depending on which step of the neurobiology of the SV is predominantly affected: (1) biogenesis of vesicle precursors in the neuronal soma; (2) transport along the axon; (3) vesicle cycle at the presynaptic terminal (exocytosis-endocytosis cycle, with the main purpose of neurotransmitter release)...
July 18, 2018: Journal of Inherited Metabolic Disease
Àngels García-Cazorla, Jean-Marie Saudubray
It has become increasingly evident that inborn errors of metabolism (IEMs) are particularly prevalent as diseases of the nervous system and that a broader, more inclusive definition of IEM is necessary. In fact, as long as biochemistry is involved, any kind of monogenic disease can become an IEM. This new, extended definition includes new categories and mechanisms, and as a general trend will go beyond a single biochemical pathway and/or organelle, and will appear as a connection of multiple crossroads in a system biology approach...
July 16, 2018: Journal of Inherited Metabolic Disease
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